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
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
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 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
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
●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven fa...●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven family members with and without atypical aniridia were recruited.All family members underwent comprehensive ophthalmic examinations.A combination of whole exome sequencing(WES)and direct Sanger sequencing were performed to uncover the causative mutation.●RESULTS:Among the 11 family members,8 were clinically diagnosed with congenital aniridia(atypical aniridia phenotype).A rare heterozygous mutation c.622C>T(p.Arg208Trp)in exon 8 of PAX6 was identified in all affected family members but not in the unaffected members or in healthy control subjects.●CONCLUSION:A rare missense mutation in the PAX6 gene is found in members of a three-generation Chinese family with congenital atypical aniridia.This result contributes to an increase in the phenotypic spectrum caused by PAX6 missense heterozygous variants and provides useful information for the clinical diagnosis of atypical aniridia,which may also contribute to genetic counselling and family planning.展开更多
BACKGROUND Extensive research revealed the absence of reports documenting hypertensive emergencies precipitated by changes in the cervical spine posture.CASE SUMMARY We here present a 57-year-old woman diagnosed as ha...BACKGROUND Extensive research revealed the absence of reports documenting hypertensive emergencies precipitated by changes in the cervical spine posture.CASE SUMMARY We here present a 57-year-old woman diagnosed as having cervical spondylotic radiculopathy(CSR)who was scheduled for anterior cervical decompression and fusion.During post-anesthetic positioning,a sudden hypertensive surge was observed when the patient was in a supine position with the neck being slightly extended.This surge was promptly reversed through cervical flexion and head elevation.This event however required an alternate surgical approach for recovery—posterior laminoplasty and endoscopy-assisted nucleus pulposus removal.Following the 6-month outpatient follow-up period,cervical flexion and extension activities substantially improved in the patient without any episodes of increase in acute blood pressure.CONCLUSION Maintaining a safe hypotensive posture and performing rapid,thorough deco-mpression surgery may serve as effective interventions for patients presenting symptoms similar to those of CSR accompanied by hypertensive emergencies(HE).This would mitigate the underlying causes of these HEs.展开更多
Objective To evaluate the efficacy of medroxyprogesterone acetate(MA)plus metformin as the primary fertility-sparing treatment for atypical endometrial hyperplasia(AEH)and early-stage grade 1 endometrial adenocarcinom...Objective To evaluate the efficacy of medroxyprogesterone acetate(MA)plus metformin as the primary fertility-sparing treatment for atypical endometrial hyperplasia(AEH)and early-stage grade 1 endometrial adenocarcinoma(G1 EAC)and the recurrence rate after treatment.Methods Sixty patients(aged 20-42 years)with AEH and/or grade 1 EAC limited to the endometrium were enrolled prospectively and randomized into two groups(n=30)to receive oral MA treatment at the daily dose of 160 mg(control)or MA plus oral metformin(850 mg,twice a day)for at least 6 months.The treatment could extend to 12 months until a complete response(CR)was achieved,and follow-up hysteroscopy and curettage were performed every 3 months.For all the patients who achieved CR,endometrial expressions of IGFBP-rP1,p-Akt and p-AMPK were detected immunohistochemically.Results A total of 58 patients completed the treatment.After 9 months of treatment,23(76.7%)patients in the combined treatment group and 20(71.4%)in the control group achieved CR;two patients in the control group achieved CR after converting to the combined treatment.The recurrence rate did not differ significantly between the control group and combined treatment group(30.0%vs 22.7%,P>0.05).Ten(35.7%)patients in the control group experienced significant weight gain of 5.7±6.1 kg,while none of the patients receiving the combined treatment exhibited significant body weight changes.Compared with the control group,the patients receiving the combined treatment showed enhanced endometrial expressions of IGFBP-rP1 and p-AMPK with lowered p-Akt expression.Conclusion Metformin combined with MA may provide an effective option for fertility-sparing treatment of AEH and grade 1 stage IA EAC,and the clinical benefits of metformin for controlling MA-induced weight gain and promoting endometrial expressions of IGFBP-rP1 and p-AMPK while inhibiting p-Akt expression warrants further study.展开更多
With the advent of endoscopic retrograde cholangiopancreatography(ERCP)in the early 1970s,anatomic anomalies of the Vaterian system were described endoscopically[1].Although the occurrence is rare,the common bile duct...With the advent of endoscopic retrograde cholangiopancreatography(ERCP)in the early 1970s,anatomic anomalies of the Vaterian system were described endoscopically[1].Although the occurrence is rare,the common bile duct(CBD)and the pancreatic duct may fail to coalesce during embryologic development.This leads to double major papilla because both ducts open into the duodenum separately[1].In this way the cranial duct communicates with the CBD,while the caudal orifice communicates with the pancreatic duct[2].展开更多
●AIM:To assess the necessity of neuroimaging in patients with neurological or atypical findings of normal tension glaucoma(NTG)who do not exhibit typical glaucoma manifestations.●METHODS:A retrospective analysis was...●AIM:To assess the necessity of neuroimaging in patients with neurological or atypical findings of normal tension glaucoma(NTG)who do not exhibit typical glaucoma manifestations.●METHODS:A retrospective analysis was conducted on 90 atypical NTG patients who underwent cranial magnetic resonance imaging(MRI)due to atypical symptoms.The demographic characteristics,clinical parameters,and radiological findings were recorded.●RESULTS:Among the patients,66.7%had abnormal radiology results,with the most common findings being gliosis(34.4%),sequelae of cerebrovascular events and vascular malformations(14.4%),and benign intracranial mass lesions(11%).Non-glaucomatous visual field defects were more frequently observed in patients with abnormal neuroimaging results.However,there were no significant differences in intraocular pressure,optic disc parameters,retinal nerve fiber layer thickness,and visual field indices between patients with normal and abnormal radiological results.The mean age of the patients was 58.74y.Interestingly,there was a significant age difference,with the abnormal radiology group having a higher median age(P=0.021).●CONCLUSION:The study highlights the importance of cranial imaging in older NTG patients to detect underlying pathologies and prevent misdiagnosis.It suggests that neuroimaging may be warranted in NTG patients with atypical visual field defects incompatible with glaucoma.However,routine neuroimaging in all NTG patients without classic neurological signs may not be necessary.展开更多
BACKGROUND Gout and seronegative rheumatoid arthritis(SNRA)are two distinct inflammatory joint diseases whose co-occurrence is relatively infrequently reported.Limited information is available regarding the clinical m...BACKGROUND Gout and seronegative rheumatoid arthritis(SNRA)are two distinct inflammatory joint diseases whose co-occurrence is relatively infrequently reported.Limited information is available regarding the clinical management and prognosis of these combined diseases.CASE SUMMARY A 57-year-old woman with a 20-year history of joint swelling,tenderness,and morning stiffness who was negative for rheumatoid factor and had a normal uric acid level was diagnosed with SNRA.The initial regimen of methotrexate,leflunomide,and celecoxib alleviated her symptoms,except for those associated with the knee.After symptom recurrence after medication cessation,her regimen was updated to include iguratimod,methotrexate,methylprednisolone,and folic acid,but her knee issues persisted.Minimally invasive needle-knife scope therapy revealed proliferating pannus and needle-shaped crystals in the knee,indicating coexistent SNRA and atypical knee gout.After postarthroscopic surgery to remove the synovium and urate crystals,and following a tailored regimen of methotrexate,leflunomide,celecoxib,benzbromarone,and allopurinol,her knee symptoms were significantly alleviated with no recurrence observed over a period of more than one year,indicating successful management of both conditions.CONCLUSION This study reports the case of a patient concurrently afflicted with atypical gout of the knee and SNRA and underscores the significance of minimally invasive joint techniques as effective diagnostic and therapeutic tools in the field of rheumatology and immunology.展开更多
Several cardiac outcomes have been reported with West Nile-encephalitis;however, the underlying pathophysiology remains complex. We present a 42-year-old female, with multiple sclerosis, whose neurological symptoms an...Several cardiac outcomes have been reported with West Nile-encephalitis;however, the underlying pathophysiology remains complex. We present a 42-year-old female, with multiple sclerosis, whose neurological symptoms and respiratory decline were finally explained by the diagnosis of West Nile-encephalitis. During her admission, the isolated peaked T-waves indicated the underlying stress-induced cardiomyopathy. The absence of all other causes of hyperacute T-waves, their subsequent resolution with the resolution of infection and improvement in wall motion abnormalities, further supported the association. This case highlights the importance of considering hyperacute T-waves in an approach towards the diagnosis of WNV-encephalitis related atypical variant of stress-induced cardiomyopathy.展开更多
Purpose: Neonatal pneumonia is a major newborn disease with a high morbidity rate. We aimed to evaluate whether atypical prelabor rupture of membranes (PROM) is a high-risk factor for causing neonatal pneumonia in a p...Purpose: Neonatal pneumonia is a major newborn disease with a high morbidity rate. We aimed to evaluate whether atypical prelabor rupture of membranes (PROM) is a high-risk factor for causing neonatal pneumonia in a prospective real-world study. Patients and Methods: A total of 250 pregnant women at pregnancy week 39 were non-selectively recruited. All were examined by PROM and neonatal pneumonia related clinical, bedside and lab tests, including body temperature, blood pressure, increased vagina discharge, posterior vault pooling, abdominal tenderness, WBC count, nitrazine test, amniotic fluid index, Leakection (a sICAM-1 based lateral flow immunoassay) and vagina streptococcus examinations. Increased vagina discharge with a Leakection positivity was adopted as a working criterium for identifying atypical PROM. Neonatal pneumonia was diagnosed based on the clinical presentation and lab tests. Results: Twenty cases of neonatal pneumonia (8.0%) were diagnosed after the deliveries of the 250 pregnant women. In these neonatal pneumonia cases, 12 (16.7%) occurred in 72 deliveries with atypical PROM, 2 (16.7%) in 12 deliveries with typical PROM, and 6 (3.6%) in 166 deliveries with non-PROM. Conclusion: In this real-world study, we find that a systematic screening at pregnancy week 39 was very meaningful in revealing atypical PROM. Moreover, atypical PROM is a major risk factor for neonatal pneumonia. Therefore, an early diagnosis and intervention on atypical PROM could potentially reduce the occurrence of neonatal pneumonia.展开更多
Clozapine is widely recognized as an effective antipsychotic medication for treatment-resistant schizophrenia, but it is typically associated with significant weight gain. This case report presents two unusual cases o...Clozapine is widely recognized as an effective antipsychotic medication for treatment-resistant schizophrenia, but it is typically associated with significant weight gain. This case report presents two unusual cases of patients with schizophrenia who experienced substantial weight loss while on long-term clozapine therapy. The first case involves a 35-year-old male who lost 21.3% of his initial body weight, and the second case describes a 54-year-old female who lost 30.2% of her initial weight, despite having comorbid hypothyroidism. Both patients showed improvement in psychiatric symptoms concurrent with the weight loss. Comprehensive investigations did not reveal other clear etiologies for the weight reduction. These cases challenge the conventional understanding of clozapine’s metabolic effects and highlight the potential for atypical responses in some individuals. The report discusses possible mechanisms for this unusual phenomenon, including genetic factors and altered pharmacokinetics. It also emphasizes the need for individualized monitoring and management strategies in clozapine therapy. These findings contribute to the growing body of evidence suggesting that metabolic responses to clozapine may be more complex and varied than previously thought, underscoring the importance of personalized approaches in schizophrenia treatment.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
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
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
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 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●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven family members with and without atypical aniridia were recruited.All family members underwent comprehensive ophthalmic examinations.A combination of whole exome sequencing(WES)and direct Sanger sequencing were performed to uncover the causative mutation.●RESULTS:Among the 11 family members,8 were clinically diagnosed with congenital aniridia(atypical aniridia phenotype).A rare heterozygous mutation c.622C>T(p.Arg208Trp)in exon 8 of PAX6 was identified in all affected family members but not in the unaffected members or in healthy control subjects.●CONCLUSION:A rare missense mutation in the PAX6 gene is found in members of a three-generation Chinese family with congenital atypical aniridia.This result contributes to an increase in the phenotypic spectrum caused by PAX6 missense heterozygous variants and provides useful information for the clinical diagnosis of atypical aniridia,which may also contribute to genetic counselling and family planning.
文摘BACKGROUND Extensive research revealed the absence of reports documenting hypertensive emergencies precipitated by changes in the cervical spine posture.CASE SUMMARY We here present a 57-year-old woman diagnosed as having cervical spondylotic radiculopathy(CSR)who was scheduled for anterior cervical decompression and fusion.During post-anesthetic positioning,a sudden hypertensive surge was observed when the patient was in a supine position with the neck being slightly extended.This surge was promptly reversed through cervical flexion and head elevation.This event however required an alternate surgical approach for recovery—posterior laminoplasty and endoscopy-assisted nucleus pulposus removal.Following the 6-month outpatient follow-up period,cervical flexion and extension activities substantially improved in the patient without any episodes of increase in acute blood pressure.CONCLUSION Maintaining a safe hypotensive posture and performing rapid,thorough deco-mpression surgery may serve as effective interventions for patients presenting symptoms similar to those of CSR accompanied by hypertensive emergencies(HE).This would mitigate the underlying causes of these HEs.
文摘Objective To evaluate the efficacy of medroxyprogesterone acetate(MA)plus metformin as the primary fertility-sparing treatment for atypical endometrial hyperplasia(AEH)and early-stage grade 1 endometrial adenocarcinoma(G1 EAC)and the recurrence rate after treatment.Methods Sixty patients(aged 20-42 years)with AEH and/or grade 1 EAC limited to the endometrium were enrolled prospectively and randomized into two groups(n=30)to receive oral MA treatment at the daily dose of 160 mg(control)or MA plus oral metformin(850 mg,twice a day)for at least 6 months.The treatment could extend to 12 months until a complete response(CR)was achieved,and follow-up hysteroscopy and curettage were performed every 3 months.For all the patients who achieved CR,endometrial expressions of IGFBP-rP1,p-Akt and p-AMPK were detected immunohistochemically.Results A total of 58 patients completed the treatment.After 9 months of treatment,23(76.7%)patients in the combined treatment group and 20(71.4%)in the control group achieved CR;two patients in the control group achieved CR after converting to the combined treatment.The recurrence rate did not differ significantly between the control group and combined treatment group(30.0%vs 22.7%,P>0.05).Ten(35.7%)patients in the control group experienced significant weight gain of 5.7±6.1 kg,while none of the patients receiving the combined treatment exhibited significant body weight changes.Compared with the control group,the patients receiving the combined treatment showed enhanced endometrial expressions of IGFBP-rP1 and p-AMPK with lowered p-Akt expression.Conclusion Metformin combined with MA may provide an effective option for fertility-sparing treatment of AEH and grade 1 stage IA EAC,and the clinical benefits of metformin for controlling MA-induced weight gain and promoting endometrial expressions of IGFBP-rP1 and p-AMPK while inhibiting p-Akt expression warrants further study.
文摘With the advent of endoscopic retrograde cholangiopancreatography(ERCP)in the early 1970s,anatomic anomalies of the Vaterian system were described endoscopically[1].Although the occurrence is rare,the common bile duct(CBD)and the pancreatic duct may fail to coalesce during embryologic development.This leads to double major papilla because both ducts open into the duodenum separately[1].In this way the cranial duct communicates with the CBD,while the caudal orifice communicates with the pancreatic duct[2].
文摘●AIM:To assess the necessity of neuroimaging in patients with neurological or atypical findings of normal tension glaucoma(NTG)who do not exhibit typical glaucoma manifestations.●METHODS:A retrospective analysis was conducted on 90 atypical NTG patients who underwent cranial magnetic resonance imaging(MRI)due to atypical symptoms.The demographic characteristics,clinical parameters,and radiological findings were recorded.●RESULTS:Among the patients,66.7%had abnormal radiology results,with the most common findings being gliosis(34.4%),sequelae of cerebrovascular events and vascular malformations(14.4%),and benign intracranial mass lesions(11%).Non-glaucomatous visual field defects were more frequently observed in patients with abnormal neuroimaging results.However,there were no significant differences in intraocular pressure,optic disc parameters,retinal nerve fiber layer thickness,and visual field indices between patients with normal and abnormal radiological results.The mean age of the patients was 58.74y.Interestingly,there was a significant age difference,with the abnormal radiology group having a higher median age(P=0.021).●CONCLUSION:The study highlights the importance of cranial imaging in older NTG patients to detect underlying pathologies and prevent misdiagnosis.It suggests that neuroimaging may be warranted in NTG patients with atypical visual field defects incompatible with glaucoma.However,routine neuroimaging in all NTG patients without classic neurological signs may not be necessary.
基金Supported by Natural Science Foundation of Guangdong Province,No.2023A1515011213。
文摘BACKGROUND Gout and seronegative rheumatoid arthritis(SNRA)are two distinct inflammatory joint diseases whose co-occurrence is relatively infrequently reported.Limited information is available regarding the clinical management and prognosis of these combined diseases.CASE SUMMARY A 57-year-old woman with a 20-year history of joint swelling,tenderness,and morning stiffness who was negative for rheumatoid factor and had a normal uric acid level was diagnosed with SNRA.The initial regimen of methotrexate,leflunomide,and celecoxib alleviated her symptoms,except for those associated with the knee.After symptom recurrence after medication cessation,her regimen was updated to include iguratimod,methotrexate,methylprednisolone,and folic acid,but her knee issues persisted.Minimally invasive needle-knife scope therapy revealed proliferating pannus and needle-shaped crystals in the knee,indicating coexistent SNRA and atypical knee gout.After postarthroscopic surgery to remove the synovium and urate crystals,and following a tailored regimen of methotrexate,leflunomide,celecoxib,benzbromarone,and allopurinol,her knee symptoms were significantly alleviated with no recurrence observed over a period of more than one year,indicating successful management of both conditions.CONCLUSION This study reports the case of a patient concurrently afflicted with atypical gout of the knee and SNRA and underscores the significance of minimally invasive joint techniques as effective diagnostic and therapeutic tools in the field of rheumatology and immunology.
文摘Several cardiac outcomes have been reported with West Nile-encephalitis;however, the underlying pathophysiology remains complex. We present a 42-year-old female, with multiple sclerosis, whose neurological symptoms and respiratory decline were finally explained by the diagnosis of West Nile-encephalitis. During her admission, the isolated peaked T-waves indicated the underlying stress-induced cardiomyopathy. The absence of all other causes of hyperacute T-waves, their subsequent resolution with the resolution of infection and improvement in wall motion abnormalities, further supported the association. This case highlights the importance of considering hyperacute T-waves in an approach towards the diagnosis of WNV-encephalitis related atypical variant of stress-induced cardiomyopathy.
文摘Purpose: Neonatal pneumonia is a major newborn disease with a high morbidity rate. We aimed to evaluate whether atypical prelabor rupture of membranes (PROM) is a high-risk factor for causing neonatal pneumonia in a prospective real-world study. Patients and Methods: A total of 250 pregnant women at pregnancy week 39 were non-selectively recruited. All were examined by PROM and neonatal pneumonia related clinical, bedside and lab tests, including body temperature, blood pressure, increased vagina discharge, posterior vault pooling, abdominal tenderness, WBC count, nitrazine test, amniotic fluid index, Leakection (a sICAM-1 based lateral flow immunoassay) and vagina streptococcus examinations. Increased vagina discharge with a Leakection positivity was adopted as a working criterium for identifying atypical PROM. Neonatal pneumonia was diagnosed based on the clinical presentation and lab tests. Results: Twenty cases of neonatal pneumonia (8.0%) were diagnosed after the deliveries of the 250 pregnant women. In these neonatal pneumonia cases, 12 (16.7%) occurred in 72 deliveries with atypical PROM, 2 (16.7%) in 12 deliveries with typical PROM, and 6 (3.6%) in 166 deliveries with non-PROM. Conclusion: In this real-world study, we find that a systematic screening at pregnancy week 39 was very meaningful in revealing atypical PROM. Moreover, atypical PROM is a major risk factor for neonatal pneumonia. Therefore, an early diagnosis and intervention on atypical PROM could potentially reduce the occurrence of neonatal pneumonia.
文摘Clozapine is widely recognized as an effective antipsychotic medication for treatment-resistant schizophrenia, but it is typically associated with significant weight gain. This case report presents two unusual cases of patients with schizophrenia who experienced substantial weight loss while on long-term clozapine therapy. The first case involves a 35-year-old male who lost 21.3% of his initial body weight, and the second case describes a 54-year-old female who lost 30.2% of her initial weight, despite having comorbid hypothyroidism. Both patients showed improvement in psychiatric symptoms concurrent with the weight loss. Comprehensive investigations did not reveal other clear etiologies for the weight reduction. These cases challenge the conventional understanding of clozapine’s metabolic effects and highlight the potential for atypical responses in some individuals. The report discusses possible mechanisms for this unusual phenomenon, including genetic factors and altered pharmacokinetics. It also emphasizes the need for individualized monitoring and management strategies in clozapine therapy. These findings contribute to the growing body of evidence suggesting that metabolic responses to clozapine may be more complex and varied than previously thought, underscoring the importance of personalized approaches in schizophrenia treatment.
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.
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.
