BACKGROUND Atypical optic neuritis,consisting of neuromyelitis optica spectrum disorders(NMOSD)or myelin oligodendrocyte glycoprotein antibody disease(MOGAD),has a very similar presentation but different prognostic im...BACKGROUND Atypical optic neuritis,consisting of neuromyelitis optica spectrum disorders(NMOSD)or myelin oligodendrocyte glycoprotein antibody disease(MOGAD),has a very similar presentation but different prognostic implications and longterm management strategies.Vascular and metabolic factors are being thought to play a role in such autoimmune neuro-inflammatory disorders,apart from the obvious immune mediated damage.With the advent of optical coherence tomography angiography(OCTA),it is easy to pick up on these subclinical macular microvascular and structural changes.AIM To study the macular microvascular and structural changes on OCTA in atypical optic neuritis.METHODS This observational cross-sectional study involved 8 NMOSD and 17 MOGAD patients,diagnosed serologically,as well as 10 healthy controls.Macular vascular density(MVD)and ganglion cell+inner plexiform layer thickness(GCIPL)were studied using OCTA.RESULTS There was a significant reduction in MVD in NMOSD and MOGAD affected as well as unaffected eyes when compared with healthy controls.NMOSD and MOGAD affected eyes had significant GCIPL thinning compared with healthy controls.NMOSD unaffected eyes did not show significant GCIPL thinning compared to healthy controls in contrast to MOGAD unaffected eyes.On comparing NMOSD with MOGAD,there was no significant difference in terms of MVD or GCIPL in the affected or unaffected eyes.CONCLUSION Although significant microvascular and structural changes are present on OCTA between atypical optic neuritis and normal patients,they could not help in differentiating between NMOSD and MOGAD cases.展开更多
Hydatid disease,caused by the Echinococcus granulosus parasite,is traditionally associated with liver and lung involvement.However,recent years have seen an increase in cases with atypical localizations,such as the ki...Hydatid disease,caused by the Echinococcus granulosus parasite,is traditionally associated with liver and lung involvement.However,recent years have seen an increase in cases with atypical localizations,such as the kidneys,thyroid,soft tissues,and bones.The study by Celik et al presents a series of five clinical cases where hydatid cysts were found in these rare anatomical regions,challenging conventional diagnostic and therapeutic approaches.The paper emphasizes the importance of differential diagnosis,as these cases can mimic other conditions,such as cancer,abscesses,or cysts.Advanced imaging techniques,such as com-puted tomography,magnetic resonance imaging,and ultrasound,play a crucial role in accurate diagnosis and help avoid misdiagnosis.The study demonstrates that early diagnosis and appropriate treatment of echinococosis in atypical localiz-ations are critical for preventing complications like cyst rupture and secondary infections.The use of albendazole and surgical intervention,especially in combi-nation with modern imaging techniques,yields good outcomes in these patients.However,several unanswered questions remain:What are the precise criteria for selecting the optimal treatment method in each case?What is the long-term effect-iveness of different approaches?Do patients with hydatid cysts in atypical lo-cations require additional monitoring and preventive treatment to avoid recu-rrence?Addressing these questions requires further research,and a multidisci-plinary approach involving radiologists,surgeons,and infectious disease spe-cialists is essential to optimize diagnosis and treatment.Early and accurate diagnostic methods based on differential diagnosis play a key role in improving treatment outcomes and reducing morbidity.展开更多
Introduction: Crohn’s Disease (CD) is a chronic inflammatory disorder with a heterogeneous presentation. While diarrhea, abdominal pain, and weight loss are hallmarks, atypical manifestations can obscure the diagnosi...Introduction: Crohn’s Disease (CD) is a chronic inflammatory disorder with a heterogeneous presentation. While diarrhea, abdominal pain, and weight loss are hallmarks, atypical manifestations can obscure the diagnosis. This report highlights an unusual presentation of CD to emphasize the need for comprehensive diagnostic strategies. Case Report: A 25-year-old male presented with peripheral edema, anorexia, and abdominal distension but lacked classic gastrointestinal (GI) symptoms. Laboratory findings included microcytic anemia and hypoalbuminemia, while imaging revealed ascites and bowel wall thickening. Elevated fecal calprotectin and positive Anti-Saccharomyces cerevisiae antibodies (ASCA) supported the diagnosis. Endoscopy confirmed ileocolic Crohn’s Disease (L3 + L4). Infliximab therapy resulted in marked clinical improvement. Discussion: This case underscores the complexity of atypical CD presentations. Early use of serological markers, imaging, and endoscopy guided the diagnosis. Recognition of CD’s diverse manifestations is critical for timely intervention. Conclusion: Atypical CD presentations require heightened clinical suspicion and a multidisciplinary approach to reduce diagnostic delays and improve patient outcomes.展开更多
Hepatitis A virus(HAV)infection remains a significant public health concern in many developing countries.The annual incidence of HAV infection is 1.5 million,though this figure may be underestimated owing to the infec...Hepatitis A virus(HAV)infection remains a significant public health concern in many developing countries.The annual incidence of HAV infection is 1.5 million,though this figure may be underestimated owing to the infection’s asymptomatic nature and the presence of milder disease variants.The clinical spectrum of HAV infection now ranges from asymptomatic infection to fulminant hepatitis.Despite the availability of safe and highly effective vaccines,HAV infections remain a major contributor to acute viral hepatitis worldwide.展开更多
BACKGROUND Hydatid cyst disease,caused by Echinococcus granulosus,primarily affects the liver and lungs,but it can also develop in rare locations such as the kidneys,thyroid,subcutaneous tissues,bones,and the mediasti...BACKGROUND Hydatid cyst disease,caused by Echinococcus granulosus,primarily affects the liver and lungs,but it can also develop in rare locations such as the kidneys,thyroid,subcutaneous tissues,bones,and the mediastinum.These atypical presentations often pose diagnostic challenges,as they can mimic benign and malignant pathologies,leading to potential misdiagnoses and inappropriate treatments.Early and accurate detection of hydatid cysts in uncommon sites is crucial for optimal patient management.CASE SUMMARY This case report series presents five patients with hydatid cysts located in atypical anatomical regions:The kidney,lumbar subcutaneous tissue,gluteal soft tissue,posterior mediastinum,and thyroid gland.The patients exhibited diverse clinical symptoms,including hematuria,palpable masses,localized pain,and chronic cough.Diagnosis was confirmed through a combination of imaging techniquesultrasound,computed tomography,and magnetic resonance imaging-along with serological testing.All cases were managed with antiparasitic therapy(albendazole),and in selected cases,surgical excision was performed to prevent complications such as cyst rupture or secondary infections.Post-treatment follow-up demonstrated complete resolution or stable cystic lesions,with no signs of recurrence.CONCLUSION Recognizing hydatid cysts in atypical locations is essential to avoid misdiagnosis and ensure appropriate treatment strategies.Radiological imaging plays a key role in distinguishing hydatid cysts from other cystic and neoplastic conditions,while serological tests can aid in confirmation,particularly in endemic regions.A multidisciplinary approach,integrating radiology,clinical evaluation,and surgical expertise,is critical for effective diagnosis and management.This report highlights the need for increased awareness of extrapulmonary and extravisceral hydatid disease,emphasizing its significance in differential diagnosis and clinical practice.展开更多
The predominance of pituitary adenoma in the etiology of sellar masses often leads to the diagnostic fallacy of“availability bias”so that pituitary adenoma is almost always considered the most likely diagnosis of al...The predominance of pituitary adenoma in the etiology of sellar masses often leads to the diagnostic fallacy of“availability bias”so that pituitary adenoma is almost always considered the most likely diagnosis of all sellar masses,even when clinical evidence suggests otherwise.Primary sellar atypical teratoid/rhabdoid tumor(AT/RT)is the most aggressive sellar tumor.Most patients with sellar AT/RT are initially misdiagnosed with pituitary macroadenoma.Early diagnosis of sellar AT/RT is of paramount importance to counsel patients and family on the grave prognosis and to avoid futile surgical procedures.Since there are no discerning imaging features to differentiate AT/RT from other sellar tumors,the acuity of sellar compression symptoms characteristic of AT/RT is the only evidence indicative of the AT/RT diagnosis.Based on the biological and anatomical properties of the sella turcica and its surrounding structures,the nature,order of manifestation,and acuity of the sellar compression symptoms in response to sellar content expansion are mostly predictable.It is concluded that rapidly progressive headache and subsequent similarly rapidly progressive visual symptoms in a female with a large sellar mass are pathognomonic of sellar AT/RT(the“Yu rule”).展开更多
BACKGROUND Atypical depression is an important indicator of a high risk of bipolar disorder and a genetic predisposition to immunometabolic traits.AIM To analyze common depression assessment scales for their inclusion...BACKGROUND Atypical depression is an important indicator of a high risk of bipolar disorder and a genetic predisposition to immunometabolic traits.AIM To analyze common depression assessment scales for their inclusion of items related to atypical symptoms such as mood reactivity,hypersomnia,increased appetite(or weight gain),leaden paralysis,and interpersonal sensitivity.METHODS A search for English-language articles was conducted without time restrictions in the MEDLINE and Russian Science Citation Index databases using the following keywords:“depression”OR“bipolar depression”AND“scales”OR“questionnaires”.The analytical method used in this review involved a descriptive analysis of the included studies.RESULTS After reviewing studies on the validation of depression assessment scales,we found that only a small number include items addressing both increases and decreases in appetite or weight,as well as variations in sleep duration.Moreover,only a few studies have evaluated mood reactivity,leaden paralysis,and interpersonal sensitivity.The most well-developed scale that considers all aspects of atypical and non-atypical depressions is the Inventory of Depressive Symptomatology.CONCLUSION Ignoring atypical symptoms in common scales can lead to underestimation of depression severity and inaccuracies in evaluating therapy effectiveness in clinical trials, as well as hinder fundamental research aimed at finding biomarkers.展开更多
Primary sellar atypical teratoid/rhabdoid tumor(AT/RT)is the most aggressive sellar mass.Although rare,sellar AT/RT exhibits a very relentless clinical course and usually results in death within months to a few years ...Primary sellar atypical teratoid/rhabdoid tumor(AT/RT)is the most aggressive sellar mass.Although rare,sellar AT/RT exhibits a very relentless clinical course and usually results in death within months to a few years after diagnosis.The best clinical evidence suggests that surgical debulking and timely adjuvant chemoradiation are most effective in prolonging survival.A preoperative radiological diagnosis of sellar AT/RT thus is crucial in informing patients and physicians about this devastating disease.This minireview summaries the imaging features of sellar AT/RT.magnetic resonance imaging features of sellar AT/RT and the much more common sellar mass,pituitary macroadenoma,are similar in most aspects:They are both isointense to brain gray matter on T1 and T2 imaging and enhance upon gadolinium administration.Suprasellar extension and cavernous sinus invasion are present in practically all cases of sellar AT/RT,but are also present in 50%-75%of pituitary macroadenomas,especially in large ones,suggesting that suprasellar extension and cavernous sinus invasion disproportionate to the tumor size may favor sellar AT/RT diagnosis.Since sellar AT/RT grows very rapidly and does not allow significant remodeling of perisellar structures,the imaging features of perisellar structures such as optic chiasm and cavernous sinus may be key for imaging diagnosis of sellar AT/RT although they have not been well described in sellar AT/RT.In limited cases of sellar AT/RT,optic chiasm degeneration and thinning,which are very common in pituitary macroadenoma,are not present,giving hope for using features of perisellar structures to diagnose sellar AT/RT by imaging.展开更多
BACKGROUND Rett syndrome is a monogenic X-linked dominant condition that affects 1/(10000-15000)girls due to de novo mutations in the methyl-CpG binding protein 2(MECP2)gene mapped to chromosome Xq28.The disease-causi...BACKGROUND Rett syndrome is a monogenic X-linked dominant condition that affects 1/(10000-15000)girls due to de novo mutations in the methyl-CpG binding protein 2(MECP2)gene mapped to chromosome Xq28.The disease-causing gene was identified as a mutation in the MECP2 gene,which is found in approximately 80%of patients diagnosed with Rett syndrome.Although chromosomal changes resulting in del(15)(q11q13)are usually associated with Angelman and Prader-Willi syndrome,very few cases,if any,of Rett syndrome with terminal 15q22-qter deletion have been published in English literature.CASE SUMMARY In this study,we report an unusual and rare clinical presentation of Rett syndrome in a 12-year-old Sudanese girl.The patient was brought in by her parents,complaining of gradual onset of abnormal walking,abnormal hand movement,loss of speech,and mental retardation for ten years.There was no reported history of convulsions or loss of consciousness.Clinical examination revealed microcephaly with no other apparent dysmorphic features,intact cranial nerves,and abnormal gait.She showed repetitive and stereotyped behaviors,including hand flapping,stimming,and chest pounding,which were concomitant with autism spectrum disorder.Magnetic resonance imaging and electroencephalography investigations were normal,and cytogenetic analysis showed 46,XX,del(15)(q22qter).Further molecular analysis using whole sequencing of MECP2 revealed an alteration cytosine>thymine at nucleotide 401,leading to phenylalanine replacing a serine at amino acid position 134.CONCLUSION This case,the first reported instance of Rett syndrome in Sudan,is of significant interest.The patient carries both the MECP2 gene mutation and the chromosome 15q22-qter deletion,which may explain the autistic behavior with atypical presentation of Rett syndrome.This report expands the genetic diversity of Rett syndrome,demonstrating how co-occurring 15q22-qter deletions can reshape MECP2-associated phenotypes in Rett syndrome.展开更多
Bisphosphonates are a class of drugs used as the mainstay of treatment for osteoporosis.Bisphosphonates function by binding to hydroxyapatite,and subsequently targeting osteoclasts by altering their ability to resorb ...Bisphosphonates are a class of drugs used as the mainstay of treatment for osteoporosis.Bisphosphonates function by binding to hydroxyapatite,and subsequently targeting osteoclasts by altering their ability to resorb and remodel bone.Whilst aiming to reduce the risk of fragility fractures,bisphosphonates have been associated with atypical insufficiency fractures,specifically in the femur.Atypical femoral fractures occur distal to the lesser trochanter,until the supracondylar flare.There are a number of the differing clinical and radiological features between atypical femoral fractures and osteoporotic femoral fractures,indicating that there is a distinct difference in the respective underlying pathophysiology.At the point of presentation of an atypical femoral fracture,bisphosphonate should be discontinued.This is due to the proposed inhibition of osteoclasts and apoptosis,resulting in impaired callus healing.Conservative management consists primarily of cessation of bisphosphonate therapy and partial weightbearing activity.Nutritional deficiencies should be investigated and appro-priately corrected,most notably dietary calcium and vitamin D.Currently there is no established treatment guidelines for either complete or incomplete fractures.There is agreement in the literature that nonoperative management of bisphosphonate-associated femoral fractures conveys poor outcomes.Currently,the favoured methods of surgical fixation are cephalomedullary nailing and plate fixation.Newer techniques advocate the use of both modalities as it gives the plate advantage of best reducing the fracture and compressing the lateral cortex,with the support of the intramedullary nail to stabilise an atypical fracture with increased ability to load-share,and a reduced bending moment across the fracture site.The evidence suggests that cephalomedullary nailing of the fracture has lower revision rates.However,it is important to appreciate that the anatomical location and patient factors may not always allow for this.Although causation between bisphosphonates and atypical fractures is yet to be demonstrated,there is a growing evidence base to suggest a higher incidence to atypical femoral fractures in patients who take bisphosphonates.As we encounter a growing comorbid elderly population,the prevalence of this fracture-type will likely increase.Therefore,it is imperative clinicians continue to be attentive of atypical femoral fractures and treat them effectively.展开更多
Atypical polypoid adenomyoma(APA)is an uncommon type of polypoid characterized by fibroid stroma and endometrial glands.It occurs mostly in premenopausal women and rarely in postmenopausal women with irregular vaginal...Atypical polypoid adenomyoma(APA)is an uncommon type of polypoid characterized by fibroid stroma and endometrial glands.It occurs mostly in premenopausal women and rarely in postmenopausal women with irregular vaginal bleeding.In our current case,a 76-year-old woman presented with irregular vaginal bleeding.The final pathological diagnosis of the mass was APA.APA is not easy to diagnose before surgery.On the one hand,there was no obvious particularity in imaging features and clinical features,especially for uncomfortably identifying endometrial cancer.On the other hand,APA has a pedicle,attaching to any part of the uterine cavity,which can cause pseudocoel between the mass with the uterine cavity wall.So,when it comes to getting the pathological tissue in the absence of hysteroscopy,it is easy to access to the pseudocoel and obtain endometrial tissue rather than the pathological tissue of the mass.Therefore,preoperative imaging examination is of great significance diagnosis way of thinking to clinicians for APA.In the meantime,pathological tissue of APA can be obtained by hysteroscopy in visual conditions.展开更多
Background Atypical antipsychotics as first-line drugs have been used in patients with schizophrenia in China and abroad.However,its safety still needs to be evaluated in a large population,especially in Chinese patie...Background Atypical antipsychotics as first-line drugs have been used in patients with schizophrenia in China and abroad.However,its safety still needs to be evaluated in a large population,especially in Chinese patients.Objective The main objective of this study is to evaluate the safety and related factors of long-term atypical antipsychotic use in patients with schizophrenia in China.The secondary objective includes the long-term efficacy of atypical antipsychotics in these patients,as well as pharmacoeconomic evaluation,population pharmacokinetic studies and pharmacogenomics studies.Methods This study has an observational design.The atypical antipsychotics include quetiapine,olanzapine,risperidone,aripiprazole,ziprasidone,paliperidone,amisulpride,perospirone and clozapine.Visits occur at 0,4,8,13,26,52,78,104,130 and 156 weeks.The efficacy evaluations include symptoms,social function,recurrence rate and hospitalisation.The safety measures include physical examination,vital signs,abdominal circumference,laboratory tests(such as blood cell analysis,blood biochemical tests and serum prolactin/thyroxine levels),12-lead ECG,extrapyramidal syndrome assessment,sexual function evaluation,medication and other adverse events.The secondary measures include the Positive and Negative Syndrome Scale,Clinical Global Impression-Severity of Illness Scale,Calgary Depression Scale for Schizophrenia,Personal and Social Performance Scale,relapse rate,drug consolidation,medical-related expenses,income,drug plasma concentration and genetic information.Results This is a large sample,non-interventional and long-term prospective clinical study designed to truly reflect the specific details of clinical practice,fully respect patients’needs,and understand patients’treatment intentions and actual treatment details.Conclusions This research method details the aims,methods,study design,strengths and limitations of the study.展开更多
The current literature does not support the usefulness of clinical markers on predicting which patients with atypical small acinar proliferation （ASAP） are more likely to progress to prostate cancer （PCa）. Androge...The current literature does not support the usefulness of clinical markers on predicting which patients with atypical small acinar proliferation （ASAP） are more likely to progress to prostate cancer （PCa）. Androgens have long been considered to be the potential risk factors for PCa. However, the role of testosterone is controversial. The present study aims to analyze the relationship between serum testosterone （TS） levels and the diagnosis of PCa after a first prostate biopsy in patients affected by ASAP. This retrospective study included 143 patients diagnosed with ASAP in an initial transrectal ultrasound-guided prostate biopsy for suspicious PCa according to the European Association of Urology guidelines. Their TS levels, age, PSA, prostate volume, digital rectal examination, and prostate biopsy Gleason score （GS） were collected retrospectively for statistical analysis. All patients included in the study had a second biopsy and were suitable for further analysis. Re-biopsy was carried out 3-6 months after the first diagnosis of ASAP. Low and normal TS groups were composed of 29 （20.3%） and 114 （79.7%） patients, respectively. The diagnosis of the second biopsy was ASAP in 25.2% and PCa in 36.4% of patients. The comparison between patients with PCa and those with negative or an ASAP result in the second biopsy reported that men with cancer had significantly higher levels of TS （P 〈 0.001）. However, there was no statistically significant association between GS postbiopsy and TS （P = 0.324）. Our experience demonstrated that eugonadal patients may be a clinical risk factor for the diagnosis of PCa on re-biopsy after ASAP diagnosis than hypogonadal.展开更多
·AIM: To investigate the clinical features and genetic defects in four generations of a Chinese family affected with atypical granular corneal dystrophy type I (GCD type I). · METHODS: Family history and cli...·AIM: To investigate the clinical features and genetic defects in four generations of a Chinese family affected with atypical granular corneal dystrophy type I (GCD type I). · METHODS: Family history and clinical data were recorded. Genomic DNA samples were obtained from peripheral blood leukocytes of all participated. Exons of the transforming growth factor-β-induced (TGFBI) gene were directly sequenced after being amplified by polymerase chain reaction (PCR), and multi-point linkage analysis using microsatellite makers flanking the gene was applied to identify the disease-causing mutation. · RESULTS: Clinical features were quite variable in patients, some patients only had opacities in the epithelium, and others revealed multiple bilateral circular, discrete, crumb -like opacities mainly in the epithelium, with several in different depths of corneal stroma, and the performance was different bilaterally, even in the same patient. Directly nucleotide sequencing revealed a heterozygous p.R555W mutation in the coding sequence of the TGFBI gene in all affected individuals of the family, but was not found in all unaffected. The maximum logarithm of odds (LOD) score obtained by multi -point analysis was detected at marker locus D5S393 (LOD = 2.740; α=1.000). ·CONCLUSION: Our case presented with clinical futures and the pathogenic mutations in TGFBI gene, the phenotype of the pedigree was quite different from typical GCD type I, so we suggested that this phenotype was a variant of GCD type I. These findings expand the knowledge about GCD type I, and demonstrate that molecular genetic analysis is important to make an accurate diagnosis of patients with variable corneal dystrophies in clinic.展开更多
Accumulating evidence suggests that a disruption of early brain development,in which insulin-like growth factor-2(IGF-2)has a crucial role,may underlie the pathophysiology of schizophrenia.Our previous study has shown...Accumulating evidence suggests that a disruption of early brain development,in which insulin-like growth factor-2(IGF-2)has a crucial role,may underlie the pathophysiology of schizophrenia.Our previous study has shown that decreased serum IGF-2 was correlated with the severity of psychopathology in patients with schizophrenia.Here we conducted a prospective observation trial to investigate the effects of atypical antipsychotics on serum IGF-2 level and its relationship with clinical improvements in schizophrenia patients.Thirty-one schizophrenia patients with acute exacerbation and 30 healthy individuals were recruited in this study.Psychiatric symptoms were assessed using the Positive and Negative Syndrome Scale(PANSS)and serum IGF-2 levels were determined using ELISA.We found that schizophrenia patients with acute exacerbation had lower serum IGF-2 levels than control individuals at baseline(P<0.05).After 2 months of atypical antipsychotic treatment,a significant improvement in each PANSS subscore and total score was observed in patients(all P<0.01),and the serum IGF-2 levels of patients were significantly increased compared with those at baseline(203.13±64.62 vs.426.99±124.26 ng/mL;t=−5.044,P<0.001).Correlation analysis revealed that the changes of serum IGF-2 levels in patients were significantly correlated with the improvements of negative symptoms(r=−0.522,P=0.006).Collectively,our findings demonstrated changes of serum IGF-2 response to improvements of negative symptoms in schizophrenia patients treated with atypical antipsychotics,suggesting that serum IGF-2 might be a treatment biomarker for schizophrenia.展开更多
Background The association between inflammation and major depressive disorder(MDD)remains poorly understood,given the heterogeneity of patients with MDD.Aims We investigated inflammatory markers,such as interleukin(IL...Background The association between inflammation and major depressive disorder(MDD)remains poorly understood,given the heterogeneity of patients with MDD.Aims We investigated inflammatory markers,such as interleukin(IL)-6,high-sensitivity C reactive protein(hsCRP)and tumour necrosis factor-α.(TNF-α)in melancholic,atypical and anxious depression and explored whether baseline inflammatory protein levels could indicate prognosis.Methods The sample consisted of participants(aged 18-55 years)from a previously reported multicentre randomised controlled trial with a parallel-group design registered with ClinicalTrials.gov,including melancholic(n=44),atypical(n=37)and anxious(n=44)patients with depression and healthy controls(HCs)(n=33).Subtypes of MDD were classified according to the 30-item Inventory of Depressive Symptomatology,Self-Rated Version and the.17-item Hamilton Depression Rating Scale.Blood levels.of TNF-α,IL-6 and hsCRP were assessed using antibody array analysis.Results Patients with MDD,classified according to melancholic,atypical and anxious depression subtypes,and HCs did not differ significantly in baseline TNF-α,IL-6 and hsCRP levels after adjustment.In patients with anxious depression,hsCRP levels increased significantly if they experienced no pain(adjusted(adj.)p=0.010)or mild to moderate pain(adj.p=0.038)compared with those with severe pain.However,the patients with anxious depression and severe pain showed a lower trend in hsCRP levels than patients with atypical depression who experienced severe pain(p=0.022;adj.p=0.155).Baseline TNF-α(adj.p=0.038)and IL-6(adj.p=0.006)levels in patients in remission were significantly lower than those in patients with no remission among the participants with the atypical depression subtype at the eighth-week follow-up.Conclusions This study provides evidence of differences in inflammatory proteins in patients with varied symptoms among melancholic,atypical and anxious depression subtypes.Further studies on the immunoinflammatory mechanism underlying different subtypes of depression are expected for improved individualised therapy.展开更多
In patients with diabetes mellitus, cardiovascular disease is the principal cause of mortality and chest pain is the most frequent symptom in patients with stable and acute coronary artery disease. However, there is l...In patients with diabetes mellitus, cardiovascular disease is the principal cause of mortality and chest pain is the most frequent symptom in patients with stable and acute coronary artery disease. However, there is little knowledge concerning the pervasiveness of uncommon presentations in diabetics. The symptomatology of acute coronary syndrome, which comprises both pain and non-pain symptoms, may be affected by traditional risk factors such as age, gender, smoking, hypertension, diabetes, and dyslipidemia. Such atypical symptoms may range from silent myocardial ischemia to a wide spectrum of non-chest pain symptoms. Worldwide, few studies have highlighted this under-investigated subject, and this aspect of ischemic heart disease has also been under-evaluated in the major clinical trials. The results of these studies are highly diverse which makes definitive conclusions regarding the spectrum of atypical presentation of acute and even stable chronic coronay artery disease difficult to confirm. This may have a significant impact on the morbidity and mortality of coronary artery disease in diabetics. In this up-to-date review we will try to analyze the most recent studies on the atypical presentations in both acute and chronic ischemic heart disease which may give some emphasis to this under-investigated topic.展开更多
BACKGROUND Wernicke's encephalopathy is a disease caused by thiamine deficiency.The lesions usually involve the periphery of the aqueduct,midbrain,tectum,third ventricle,papillary body,and thalamus.It is very rare...BACKGROUND Wernicke's encephalopathy is a disease caused by thiamine deficiency.The lesions usually involve the periphery of the aqueduct,midbrain,tectum,third ventricle,papillary body,and thalamus.It is very rare to affect the vermis and cerebellar hemispheres.CASE SUMMARY We report a 77-year-old female patient admitted to the emergency department of our hospital for 2 d of unconsciousness.Brain magnetic resonance imaging showed increased diffusion weighted imaging signals in the bilateral thalamus,periventricular regions of the third ventricle,corpora quadrigemina,vermis,and cerebellar hemispheres.Wernicke's encephalopathy was considered.She was given thiamine therapy and became conscious after the treatment.CONCLUSION Wernicke's encephalopathy may have various imaging manifestations.Clinicians should keep in mind that Wernicke’s encephalopathy may occur in patients who experience prolonged periods of malnutrition.展开更多
Objective To investigate the expression of survivin gene among human normal endometrium,atypical hyperplasia of endometrium,and endometrial carcinoma.Methods Tissue samples of human normal endometrium during prolifera...Objective To investigate the expression of survivin gene among human normal endometrium,atypical hyperplasia of endometrium,and endometrial carcinoma.Methods Tissue samples of human normal endometrium during proliferative phase （NE,n=20）,atypical hyperplasia of endometrium （AHE,n=11）,and endometrial carcinoma （EC,n=9） were collected.Besides,Paraffin embedded sections of NE （n=20）,AHE （n=20）,and EC （n=20） were used.The expression of survivin gene was determined by immunohistochemistry and the real-time reverse transcription polymerase chain reaction.Results Survivin immunostaining appeared in the cytoplasm of endometrial epithelial cells.Both survivin staining and mRNA had higher levels in AHE or EC than those in NE （P〈0.01）.No difference was found on survivin staining and mRNA between AHE and EC （P〉0.05）.Conclusion High expression of survivin gene in human endometrium is associated with the risk of atypical hyperplasia progressing to endometrial carcinoma.The high level of survivin expression is useful as a predictive indicator for endometrial carcinoma.展开更多
Focal Nodular Hyperplasia (FNH) is the second most hepatic tumor next to hemangioma predominantly affecting women. It is a benign regenerative nodule having an unencapsulated well-defined mass with fibrovascular septa...Focal Nodular Hyperplasia (FNH) is the second most hepatic tumor next to hemangioma predominantly affecting women. It is a benign regenerative nodule having an unencapsulated well-defined mass with fibrovascular septae and proliferating bile ductules. Gadoxetic acid is a hepatocyte specific MR contrast agent which is known to be specific for the identifying FNH. Congenital vascular malformation and enlargement due to hormone stimulation is being considered as the main cause of FNH. The central stellate fibrovascular scar is a typical diagnostic imaging feature of FNH and the atypical pathological findings of FNH include large lesions multiple in number, internal necrosis, haemorrhagic foci and fatty infiltration. The atypical imaging features include non-enhancement of the central scar, calcification of the lesion, nonvisualized central scar and pseudocapsular enhancement on delayed imaging. For the accurate diagnosis of FNH, study of atypical radiologic features of FNH in correlation with pathological findings is the most essential. The macroscopic and the microscopic pathognomic changes should be taken as helpful points in the diagnosis of FNH. The main objective of this study is to recognize and understand the typical and atypical imaging patterns observed in CT and MR imaging of FNH with pathological correlation which avoids the necessity of biopsy and further investigations.展开更多
文摘BACKGROUND Atypical optic neuritis,consisting of neuromyelitis optica spectrum disorders(NMOSD)or myelin oligodendrocyte glycoprotein antibody disease(MOGAD),has a very similar presentation but different prognostic implications and longterm management strategies.Vascular and metabolic factors are being thought to play a role in such autoimmune neuro-inflammatory disorders,apart from the obvious immune mediated damage.With the advent of optical coherence tomography angiography(OCTA),it is easy to pick up on these subclinical macular microvascular and structural changes.AIM To study the macular microvascular and structural changes on OCTA in atypical optic neuritis.METHODS This observational cross-sectional study involved 8 NMOSD and 17 MOGAD patients,diagnosed serologically,as well as 10 healthy controls.Macular vascular density(MVD)and ganglion cell+inner plexiform layer thickness(GCIPL)were studied using OCTA.RESULTS There was a significant reduction in MVD in NMOSD and MOGAD affected as well as unaffected eyes when compared with healthy controls.NMOSD and MOGAD affected eyes had significant GCIPL thinning compared with healthy controls.NMOSD unaffected eyes did not show significant GCIPL thinning compared to healthy controls in contrast to MOGAD unaffected eyes.On comparing NMOSD with MOGAD,there was no significant difference in terms of MVD or GCIPL in the affected or unaffected eyes.CONCLUSION Although significant microvascular and structural changes are present on OCTA between atypical optic neuritis and normal patients,they could not help in differentiating between NMOSD and MOGAD cases.
文摘Hydatid disease,caused by the Echinococcus granulosus parasite,is traditionally associated with liver and lung involvement.However,recent years have seen an increase in cases with atypical localizations,such as the kidneys,thyroid,soft tissues,and bones.The study by Celik et al presents a series of five clinical cases where hydatid cysts were found in these rare anatomical regions,challenging conventional diagnostic and therapeutic approaches.The paper emphasizes the importance of differential diagnosis,as these cases can mimic other conditions,such as cancer,abscesses,or cysts.Advanced imaging techniques,such as com-puted tomography,magnetic resonance imaging,and ultrasound,play a crucial role in accurate diagnosis and help avoid misdiagnosis.The study demonstrates that early diagnosis and appropriate treatment of echinococosis in atypical localiz-ations are critical for preventing complications like cyst rupture and secondary infections.The use of albendazole and surgical intervention,especially in combi-nation with modern imaging techniques,yields good outcomes in these patients.However,several unanswered questions remain:What are the precise criteria for selecting the optimal treatment method in each case?What is the long-term effect-iveness of different approaches?Do patients with hydatid cysts in atypical lo-cations require additional monitoring and preventive treatment to avoid recu-rrence?Addressing these questions requires further research,and a multidisci-plinary approach involving radiologists,surgeons,and infectious disease spe-cialists is essential to optimize diagnosis and treatment.Early and accurate diagnostic methods based on differential diagnosis play a key role in improving treatment outcomes and reducing morbidity.
文摘Introduction: Crohn’s Disease (CD) is a chronic inflammatory disorder with a heterogeneous presentation. While diarrhea, abdominal pain, and weight loss are hallmarks, atypical manifestations can obscure the diagnosis. This report highlights an unusual presentation of CD to emphasize the need for comprehensive diagnostic strategies. Case Report: A 25-year-old male presented with peripheral edema, anorexia, and abdominal distension but lacked classic gastrointestinal (GI) symptoms. Laboratory findings included microcytic anemia and hypoalbuminemia, while imaging revealed ascites and bowel wall thickening. Elevated fecal calprotectin and positive Anti-Saccharomyces cerevisiae antibodies (ASCA) supported the diagnosis. Endoscopy confirmed ileocolic Crohn’s Disease (L3 + L4). Infliximab therapy resulted in marked clinical improvement. Discussion: This case underscores the complexity of atypical CD presentations. Early use of serological markers, imaging, and endoscopy guided the diagnosis. Recognition of CD’s diverse manifestations is critical for timely intervention. Conclusion: Atypical CD presentations require heightened clinical suspicion and a multidisciplinary approach to reduce diagnostic delays and improve patient outcomes.
文摘Hepatitis A virus(HAV)infection remains a significant public health concern in many developing countries.The annual incidence of HAV infection is 1.5 million,though this figure may be underestimated owing to the infection’s asymptomatic nature and the presence of milder disease variants.The clinical spectrum of HAV infection now ranges from asymptomatic infection to fulminant hepatitis.Despite the availability of safe and highly effective vaccines,HAV infections remain a major contributor to acute viral hepatitis worldwide.
文摘BACKGROUND Hydatid cyst disease,caused by Echinococcus granulosus,primarily affects the liver and lungs,but it can also develop in rare locations such as the kidneys,thyroid,subcutaneous tissues,bones,and the mediastinum.These atypical presentations often pose diagnostic challenges,as they can mimic benign and malignant pathologies,leading to potential misdiagnoses and inappropriate treatments.Early and accurate detection of hydatid cysts in uncommon sites is crucial for optimal patient management.CASE SUMMARY This case report series presents five patients with hydatid cysts located in atypical anatomical regions:The kidney,lumbar subcutaneous tissue,gluteal soft tissue,posterior mediastinum,and thyroid gland.The patients exhibited diverse clinical symptoms,including hematuria,palpable masses,localized pain,and chronic cough.Diagnosis was confirmed through a combination of imaging techniquesultrasound,computed tomography,and magnetic resonance imaging-along with serological testing.All cases were managed with antiparasitic therapy(albendazole),and in selected cases,surgical excision was performed to prevent complications such as cyst rupture or secondary infections.Post-treatment follow-up demonstrated complete resolution or stable cystic lesions,with no signs of recurrence.CONCLUSION Recognizing hydatid cysts in atypical locations is essential to avoid misdiagnosis and ensure appropriate treatment strategies.Radiological imaging plays a key role in distinguishing hydatid cysts from other cystic and neoplastic conditions,while serological tests can aid in confirmation,particularly in endemic regions.A multidisciplinary approach,integrating radiology,clinical evaluation,and surgical expertise,is critical for effective diagnosis and management.This report highlights the need for increased awareness of extrapulmonary and extravisceral hydatid disease,emphasizing its significance in differential diagnosis and clinical practice.
文摘The predominance of pituitary adenoma in the etiology of sellar masses often leads to the diagnostic fallacy of“availability bias”so that pituitary adenoma is almost always considered the most likely diagnosis of all sellar masses,even when clinical evidence suggests otherwise.Primary sellar atypical teratoid/rhabdoid tumor(AT/RT)is the most aggressive sellar tumor.Most patients with sellar AT/RT are initially misdiagnosed with pituitary macroadenoma.Early diagnosis of sellar AT/RT is of paramount importance to counsel patients and family on the grave prognosis and to avoid futile surgical procedures.Since there are no discerning imaging features to differentiate AT/RT from other sellar tumors,the acuity of sellar compression symptoms characteristic of AT/RT is the only evidence indicative of the AT/RT diagnosis.Based on the biological and anatomical properties of the sella turcica and its surrounding structures,the nature,order of manifestation,and acuity of the sellar compression symptoms in response to sellar content expansion are mostly predictable.It is concluded that rapidly progressive headache and subsequent similarly rapidly progressive visual symptoms in a female with a large sellar mass are pathognomonic of sellar AT/RT(the“Yu rule”).
文摘BACKGROUND Atypical depression is an important indicator of a high risk of bipolar disorder and a genetic predisposition to immunometabolic traits.AIM To analyze common depression assessment scales for their inclusion of items related to atypical symptoms such as mood reactivity,hypersomnia,increased appetite(or weight gain),leaden paralysis,and interpersonal sensitivity.METHODS A search for English-language articles was conducted without time restrictions in the MEDLINE and Russian Science Citation Index databases using the following keywords:“depression”OR“bipolar depression”AND“scales”OR“questionnaires”.The analytical method used in this review involved a descriptive analysis of the included studies.RESULTS After reviewing studies on the validation of depression assessment scales,we found that only a small number include items addressing both increases and decreases in appetite or weight,as well as variations in sleep duration.Moreover,only a few studies have evaluated mood reactivity,leaden paralysis,and interpersonal sensitivity.The most well-developed scale that considers all aspects of atypical and non-atypical depressions is the Inventory of Depressive Symptomatology.CONCLUSION Ignoring atypical symptoms in common scales can lead to underestimation of depression severity and inaccuracies in evaluating therapy effectiveness in clinical trials, as well as hinder fundamental research aimed at finding biomarkers.
文摘Primary sellar atypical teratoid/rhabdoid tumor(AT/RT)is the most aggressive sellar mass.Although rare,sellar AT/RT exhibits a very relentless clinical course and usually results in death within months to a few years after diagnosis.The best clinical evidence suggests that surgical debulking and timely adjuvant chemoradiation are most effective in prolonging survival.A preoperative radiological diagnosis of sellar AT/RT thus is crucial in informing patients and physicians about this devastating disease.This minireview summaries the imaging features of sellar AT/RT.magnetic resonance imaging features of sellar AT/RT and the much more common sellar mass,pituitary macroadenoma,are similar in most aspects:They are both isointense to brain gray matter on T1 and T2 imaging and enhance upon gadolinium administration.Suprasellar extension and cavernous sinus invasion are present in practically all cases of sellar AT/RT,but are also present in 50%-75%of pituitary macroadenomas,especially in large ones,suggesting that suprasellar extension and cavernous sinus invasion disproportionate to the tumor size may favor sellar AT/RT diagnosis.Since sellar AT/RT grows very rapidly and does not allow significant remodeling of perisellar structures,the imaging features of perisellar structures such as optic chiasm and cavernous sinus may be key for imaging diagnosis of sellar AT/RT although they have not been well described in sellar AT/RT.In limited cases of sellar AT/RT,optic chiasm degeneration and thinning,which are very common in pituitary macroadenoma,are not present,giving hope for using features of perisellar structures to diagnose sellar AT/RT by imaging.
文摘BACKGROUND Rett syndrome is a monogenic X-linked dominant condition that affects 1/(10000-15000)girls due to de novo mutations in the methyl-CpG binding protein 2(MECP2)gene mapped to chromosome Xq28.The disease-causing gene was identified as a mutation in the MECP2 gene,which is found in approximately 80%of patients diagnosed with Rett syndrome.Although chromosomal changes resulting in del(15)(q11q13)are usually associated with Angelman and Prader-Willi syndrome,very few cases,if any,of Rett syndrome with terminal 15q22-qter deletion have been published in English literature.CASE SUMMARY In this study,we report an unusual and rare clinical presentation of Rett syndrome in a 12-year-old Sudanese girl.The patient was brought in by her parents,complaining of gradual onset of abnormal walking,abnormal hand movement,loss of speech,and mental retardation for ten years.There was no reported history of convulsions or loss of consciousness.Clinical examination revealed microcephaly with no other apparent dysmorphic features,intact cranial nerves,and abnormal gait.She showed repetitive and stereotyped behaviors,including hand flapping,stimming,and chest pounding,which were concomitant with autism spectrum disorder.Magnetic resonance imaging and electroencephalography investigations were normal,and cytogenetic analysis showed 46,XX,del(15)(q22qter).Further molecular analysis using whole sequencing of MECP2 revealed an alteration cytosine>thymine at nucleotide 401,leading to phenylalanine replacing a serine at amino acid position 134.CONCLUSION This case,the first reported instance of Rett syndrome in Sudan,is of significant interest.The patient carries both the MECP2 gene mutation and the chromosome 15q22-qter deletion,which may explain the autistic behavior with atypical presentation of Rett syndrome.This report expands the genetic diversity of Rett syndrome,demonstrating how co-occurring 15q22-qter deletions can reshape MECP2-associated phenotypes in Rett syndrome.
文摘Bisphosphonates are a class of drugs used as the mainstay of treatment for osteoporosis.Bisphosphonates function by binding to hydroxyapatite,and subsequently targeting osteoclasts by altering their ability to resorb and remodel bone.Whilst aiming to reduce the risk of fragility fractures,bisphosphonates have been associated with atypical insufficiency fractures,specifically in the femur.Atypical femoral fractures occur distal to the lesser trochanter,until the supracondylar flare.There are a number of the differing clinical and radiological features between atypical femoral fractures and osteoporotic femoral fractures,indicating that there is a distinct difference in the respective underlying pathophysiology.At the point of presentation of an atypical femoral fracture,bisphosphonate should be discontinued.This is due to the proposed inhibition of osteoclasts and apoptosis,resulting in impaired callus healing.Conservative management consists primarily of cessation of bisphosphonate therapy and partial weightbearing activity.Nutritional deficiencies should be investigated and appro-priately corrected,most notably dietary calcium and vitamin D.Currently there is no established treatment guidelines for either complete or incomplete fractures.There is agreement in the literature that nonoperative management of bisphosphonate-associated femoral fractures conveys poor outcomes.Currently,the favoured methods of surgical fixation are cephalomedullary nailing and plate fixation.Newer techniques advocate the use of both modalities as it gives the plate advantage of best reducing the fracture and compressing the lateral cortex,with the support of the intramedullary nail to stabilise an atypical fracture with increased ability to load-share,and a reduced bending moment across the fracture site.The evidence suggests that cephalomedullary nailing of the fracture has lower revision rates.However,it is important to appreciate that the anatomical location and patient factors may not always allow for this.Although causation between bisphosphonates and atypical fractures is yet to be demonstrated,there is a growing evidence base to suggest a higher incidence to atypical femoral fractures in patients who take bisphosphonates.As we encounter a growing comorbid elderly population,the prevalence of this fracture-type will likely increase.Therefore,it is imperative clinicians continue to be attentive of atypical femoral fractures and treat them effectively.
文摘Atypical polypoid adenomyoma(APA)is an uncommon type of polypoid characterized by fibroid stroma and endometrial glands.It occurs mostly in premenopausal women and rarely in postmenopausal women with irregular vaginal bleeding.In our current case,a 76-year-old woman presented with irregular vaginal bleeding.The final pathological diagnosis of the mass was APA.APA is not easy to diagnose before surgery.On the one hand,there was no obvious particularity in imaging features and clinical features,especially for uncomfortably identifying endometrial cancer.On the other hand,APA has a pedicle,attaching to any part of the uterine cavity,which can cause pseudocoel between the mass with the uterine cavity wall.So,when it comes to getting the pathological tissue in the absence of hysteroscopy,it is easy to access to the pseudocoel and obtain endometrial tissue rather than the pathological tissue of the mass.Therefore,preoperative imaging examination is of great significance diagnosis way of thinking to clinicians for APA.In the meantime,pathological tissue of APA can be obtained by hysteroscopy in visual conditions.
基金This study was supported by the Clinical Research Center,Shanghai Jiao Tong University School of Medicine(DLY201620)National Science and Technology Major Project for IND(2018ZX09734-005)+1 种基金Shanghai Clinical Research Center for Mental Health(19MC1911100)Medical Engineering Cross Project of Shanghai Jiao Tong University(YG2017MS42).
文摘Background Atypical antipsychotics as first-line drugs have been used in patients with schizophrenia in China and abroad.However,its safety still needs to be evaluated in a large population,especially in Chinese patients.Objective The main objective of this study is to evaluate the safety and related factors of long-term atypical antipsychotic use in patients with schizophrenia in China.The secondary objective includes the long-term efficacy of atypical antipsychotics in these patients,as well as pharmacoeconomic evaluation,population pharmacokinetic studies and pharmacogenomics studies.Methods This study has an observational design.The atypical antipsychotics include quetiapine,olanzapine,risperidone,aripiprazole,ziprasidone,paliperidone,amisulpride,perospirone and clozapine.Visits occur at 0,4,8,13,26,52,78,104,130 and 156 weeks.The efficacy evaluations include symptoms,social function,recurrence rate and hospitalisation.The safety measures include physical examination,vital signs,abdominal circumference,laboratory tests(such as blood cell analysis,blood biochemical tests and serum prolactin/thyroxine levels),12-lead ECG,extrapyramidal syndrome assessment,sexual function evaluation,medication and other adverse events.The secondary measures include the Positive and Negative Syndrome Scale,Clinical Global Impression-Severity of Illness Scale,Calgary Depression Scale for Schizophrenia,Personal and Social Performance Scale,relapse rate,drug consolidation,medical-related expenses,income,drug plasma concentration and genetic information.Results This is a large sample,non-interventional and long-term prospective clinical study designed to truly reflect the specific details of clinical practice,fully respect patients’needs,and understand patients’treatment intentions and actual treatment details.Conclusions This research method details the aims,methods,study design,strengths and limitations of the study.
文摘The current literature does not support the usefulness of clinical markers on predicting which patients with atypical small acinar proliferation （ASAP） are more likely to progress to prostate cancer （PCa）. Androgens have long been considered to be the potential risk factors for PCa. However, the role of testosterone is controversial. The present study aims to analyze the relationship between serum testosterone （TS） levels and the diagnosis of PCa after a first prostate biopsy in patients affected by ASAP. This retrospective study included 143 patients diagnosed with ASAP in an initial transrectal ultrasound-guided prostate biopsy for suspicious PCa according to the European Association of Urology guidelines. Their TS levels, age, PSA, prostate volume, digital rectal examination, and prostate biopsy Gleason score （GS） were collected retrospectively for statistical analysis. All patients included in the study had a second biopsy and were suitable for further analysis. Re-biopsy was carried out 3-6 months after the first diagnosis of ASAP. Low and normal TS groups were composed of 29 （20.3%） and 114 （79.7%） patients, respectively. The diagnosis of the second biopsy was ASAP in 25.2% and PCa in 36.4% of patients. The comparison between patients with PCa and those with negative or an ASAP result in the second biopsy reported that men with cancer had significantly higher levels of TS （P 〈 0.001）. However, there was no statistically significant association between GS postbiopsy and TS （P = 0.324）. Our experience demonstrated that eugonadal patients may be a clinical risk factor for the diagnosis of PCa on re-biopsy after ASAP diagnosis than hypogonadal.
基金Zhejiang Key Innovation Team Project of China (No.2009R50039)Zhejiang Key Laboratory Found of China (No.2011E10006)+1 种基金Medical Science and Technology Project of Zhejiang Province,China (No.2010QNA012)Science and Technology Program of Zhejiang University (No.2011FZA7013)
文摘·AIM: To investigate the clinical features and genetic defects in four generations of a Chinese family affected with atypical granular corneal dystrophy type I (GCD type I). · METHODS: Family history and clinical data were recorded. Genomic DNA samples were obtained from peripheral blood leukocytes of all participated. Exons of the transforming growth factor-β-induced (TGFBI) gene were directly sequenced after being amplified by polymerase chain reaction (PCR), and multi-point linkage analysis using microsatellite makers flanking the gene was applied to identify the disease-causing mutation. · RESULTS: Clinical features were quite variable in patients, some patients only had opacities in the epithelium, and others revealed multiple bilateral circular, discrete, crumb -like opacities mainly in the epithelium, with several in different depths of corneal stroma, and the performance was different bilaterally, even in the same patient. Directly nucleotide sequencing revealed a heterozygous p.R555W mutation in the coding sequence of the TGFBI gene in all affected individuals of the family, but was not found in all unaffected. The maximum logarithm of odds (LOD) score obtained by multi -point analysis was detected at marker locus D5S393 (LOD = 2.740; α=1.000). ·CONCLUSION: Our case presented with clinical futures and the pathogenic mutations in TGFBI gene, the phenotype of the pedigree was quite different from typical GCD type I, so we suggested that this phenotype was a variant of GCD type I. These findings expand the knowledge about GCD type I, and demonstrate that molecular genetic analysis is important to make an accurate diagnosis of patients with variable corneal dystrophies in clinic.
基金This work was supported by grants from the National Natural Science Foundation of China(No.81760254)the Natural Science Foundation of Fujian Province of China(No.2019J01164)the Scientific Foundation of Quanzhou City for High Level Talents(No.2019C075R).
文摘Accumulating evidence suggests that a disruption of early brain development,in which insulin-like growth factor-2(IGF-2)has a crucial role,may underlie the pathophysiology of schizophrenia.Our previous study has shown that decreased serum IGF-2 was correlated with the severity of psychopathology in patients with schizophrenia.Here we conducted a prospective observation trial to investigate the effects of atypical antipsychotics on serum IGF-2 level and its relationship with clinical improvements in schizophrenia patients.Thirty-one schizophrenia patients with acute exacerbation and 30 healthy individuals were recruited in this study.Psychiatric symptoms were assessed using the Positive and Negative Syndrome Scale(PANSS)and serum IGF-2 levels were determined using ELISA.We found that schizophrenia patients with acute exacerbation had lower serum IGF-2 levels than control individuals at baseline(P<0.05).After 2 months of atypical antipsychotic treatment,a significant improvement in each PANSS subscore and total score was observed in patients(all P<0.01),and the serum IGF-2 levels of patients were significantly increased compared with those at baseline(203.13±64.62 vs.426.99±124.26 ng/mL;t=−5.044,P<0.001).Correlation analysis revealed that the changes of serum IGF-2 levels in patients were significantly correlated with the improvements of negative symptoms(r=−0.522,P=0.006).Collectively,our findings demonstrated changes of serum IGF-2 response to improvements of negative symptoms in schizophrenia patients treated with atypical antipsychotics,suggesting that serum IGF-2 might be a treatment biomarker for schizophrenia.
基金Key Projects of Clinical Research Center of Shanghai Mental Health Center(grant number CRC2018ZD02)key supporting projects of Clinical Research Center of Shanghai Mental Health Center(grant number SHDC 2020CR6023)+2 种基金Research and DevelopmentProgramof China(grant number 2016YFC1307100)Shanghai Key Project of Science and Technology(grant number 2018SHZDZX05)Natural Science Foundation of China(grant number 81771465,81801338 and 81930033).
文摘Background The association between inflammation and major depressive disorder(MDD)remains poorly understood,given the heterogeneity of patients with MDD.Aims We investigated inflammatory markers,such as interleukin(IL)-6,high-sensitivity C reactive protein(hsCRP)and tumour necrosis factor-α.(TNF-α)in melancholic,atypical and anxious depression and explored whether baseline inflammatory protein levels could indicate prognosis.Methods The sample consisted of participants(aged 18-55 years)from a previously reported multicentre randomised controlled trial with a parallel-group design registered with ClinicalTrials.gov,including melancholic(n=44),atypical(n=37)and anxious(n=44)patients with depression and healthy controls(HCs)(n=33).Subtypes of MDD were classified according to the 30-item Inventory of Depressive Symptomatology,Self-Rated Version and the.17-item Hamilton Depression Rating Scale.Blood levels.of TNF-α,IL-6 and hsCRP were assessed using antibody array analysis.Results Patients with MDD,classified according to melancholic,atypical and anxious depression subtypes,and HCs did not differ significantly in baseline TNF-α,IL-6 and hsCRP levels after adjustment.In patients with anxious depression,hsCRP levels increased significantly if they experienced no pain(adjusted(adj.)p=0.010)or mild to moderate pain(adj.p=0.038)compared with those with severe pain.However,the patients with anxious depression and severe pain showed a lower trend in hsCRP levels than patients with atypical depression who experienced severe pain(p=0.022;adj.p=0.155).Baseline TNF-α(adj.p=0.038)and IL-6(adj.p=0.006)levels in patients in remission were significantly lower than those in patients with no remission among the participants with the atypical depression subtype at the eighth-week follow-up.Conclusions This study provides evidence of differences in inflammatory proteins in patients with varied symptoms among melancholic,atypical and anxious depression subtypes.Further studies on the immunoinflammatory mechanism underlying different subtypes of depression are expected for improved individualised therapy.
文摘In patients with diabetes mellitus, cardiovascular disease is the principal cause of mortality and chest pain is the most frequent symptom in patients with stable and acute coronary artery disease. However, there is little knowledge concerning the pervasiveness of uncommon presentations in diabetics. The symptomatology of acute coronary syndrome, which comprises both pain and non-pain symptoms, may be affected by traditional risk factors such as age, gender, smoking, hypertension, diabetes, and dyslipidemia. Such atypical symptoms may range from silent myocardial ischemia to a wide spectrum of non-chest pain symptoms. Worldwide, few studies have highlighted this under-investigated subject, and this aspect of ischemic heart disease has also been under-evaluated in the major clinical trials. The results of these studies are highly diverse which makes definitive conclusions regarding the spectrum of atypical presentation of acute and even stable chronic coronay artery disease difficult to confirm. This may have a significant impact on the morbidity and mortality of coronary artery disease in diabetics. In this up-to-date review we will try to analyze the most recent studies on the atypical presentations in both acute and chronic ischemic heart disease which may give some emphasis to this under-investigated topic.
基金the Hangzhou Science and Technology Bureau,No.20191203B84.
文摘BACKGROUND Wernicke's encephalopathy is a disease caused by thiamine deficiency.The lesions usually involve the periphery of the aqueduct,midbrain,tectum,third ventricle,papillary body,and thalamus.It is very rare to affect the vermis and cerebellar hemispheres.CASE SUMMARY We report a 77-year-old female patient admitted to the emergency department of our hospital for 2 d of unconsciousness.Brain magnetic resonance imaging showed increased diffusion weighted imaging signals in the bilateral thalamus,periventricular regions of the third ventricle,corpora quadrigemina,vermis,and cerebellar hemispheres.Wernicke's encephalopathy was considered.She was given thiamine therapy and became conscious after the treatment.CONCLUSION Wernicke's encephalopathy may have various imaging manifestations.Clinicians should keep in mind that Wernicke’s encephalopathy may occur in patients who experience prolonged periods of malnutrition.
文摘Objective To investigate the expression of survivin gene among human normal endometrium,atypical hyperplasia of endometrium,and endometrial carcinoma.Methods Tissue samples of human normal endometrium during proliferative phase （NE,n=20）,atypical hyperplasia of endometrium （AHE,n=11）,and endometrial carcinoma （EC,n=9） were collected.Besides,Paraffin embedded sections of NE （n=20）,AHE （n=20）,and EC （n=20） were used.The expression of survivin gene was determined by immunohistochemistry and the real-time reverse transcription polymerase chain reaction.Results Survivin immunostaining appeared in the cytoplasm of endometrial epithelial cells.Both survivin staining and mRNA had higher levels in AHE or EC than those in NE （P〈0.01）.No difference was found on survivin staining and mRNA between AHE and EC （P〉0.05）.Conclusion High expression of survivin gene in human endometrium is associated with the risk of atypical hyperplasia progressing to endometrial carcinoma.The high level of survivin expression is useful as a predictive indicator for endometrial carcinoma.
文摘Focal Nodular Hyperplasia (FNH) is the second most hepatic tumor next to hemangioma predominantly affecting women. It is a benign regenerative nodule having an unencapsulated well-defined mass with fibrovascular septae and proliferating bile ductules. Gadoxetic acid is a hepatocyte specific MR contrast agent which is known to be specific for the identifying FNH. Congenital vascular malformation and enlargement due to hormone stimulation is being considered as the main cause of FNH. The central stellate fibrovascular scar is a typical diagnostic imaging feature of FNH and the atypical pathological findings of FNH include large lesions multiple in number, internal necrosis, haemorrhagic foci and fatty infiltration. The atypical imaging features include non-enhancement of the central scar, calcification of the lesion, nonvisualized central scar and pseudocapsular enhancement on delayed imaging. For the accurate diagnosis of FNH, study of atypical radiologic features of FNH in correlation with pathological findings is the most essential. The macroscopic and the microscopic pathognomic changes should be taken as helpful points in the diagnosis of FNH. The main objective of this study is to recognize and understand the typical and atypical imaging patterns observed in CT and MR imaging of FNH with pathological correlation which avoids the necessity of biopsy and further investigations.
