Tooth developmental anomalies are a group of disorders caused by unfavorable factors affecting the tooth development process,resulting in abnormalities in tooth number,structure,and morphology.These anomalies typicall...Tooth developmental anomalies are a group of disorders caused by unfavorable factors affecting the tooth development process,resulting in abnormalities in tooth number,structure,and morphology.These anomalies typically manifest during childhood,impairing dental function,maxillofacial development,and facial aesthetics,while also potentially impacting overall physical and mental health.The complex etiology and diverse clinical phenotypes of these anomalies pose significant challenges for prevention,early diagnosis,and treatment.As they usually emerge early in life,long-term management and multidisciplinary collaboration in dental care are essential.However,there is currently a lack of systematic clinical guidelines for the diagnosis and treatment of these conditions,adding to the difficulties in clinical practice.In response to this need,this expert consensus summarizes the classifications,etiology,typical clinical manifestations,and diagnostic criteria of tooth developmental anomalies based on current clinical evidence.It also provides prevention strategies and stage-specific clinical management recommendations to guide clinicians in diagnosis and treatment,promoting early intervention and standardized care for these anomalies.展开更多
Primary hepatic leiomyosarcoma is a very rare disease,accounting for less than 1%of all primary hepatic malignancies[1].As a malignant tumor of the smooth muscle,it originates in the hepatic blood vessels,bile ducts o...Primary hepatic leiomyosarcoma is a very rare disease,accounting for less than 1%of all primary hepatic malignancies[1].As a malignant tumor of the smooth muscle,it originates in the hepatic blood vessels,bile ducts or round ligaments of the liver[2,3].The clinical manifestations are nonspecific,and tumors are usually asymptomatic until they are relatively large in size.Primary hepatic leiomyosarcoma is characterized by a relatively poor prognosis and aggressive metastatic potential[3].The specific etiology and pathogenesis of primary hepatic leiomyosarcoma are still unclear.Several studies indicated that primary hepatic leiomyosarcoma might be related to acquired immune deficiency syndrome[4],Epstein-Barr virus[5],immunosuppression after organ transplantation[6],hepatitis virus[7,8],Hodgkin’s lymphoma[9]and other medical histories.Here,we present a case of primary hepatic leiomyosarcoma.展开更多
GNAO1-associated disorder is a rare disease and an example of developmental and epileptic encephalopathies.Caused by ca.150 different dominant missense mutations in the gene encoding the major neuronal G protein Gao,i...GNAO1-associated disorder is a rare disease and an example of developmental and epileptic encephalopathies.Caused by ca.150 different dominant missense mutations in the gene encoding the major neuronal G protein Gao,it spans a wide range of neurological clinical manifestations,that may include epileptic seizures,motor dysfunctions,developmental and intellectual delay,and other symptoms(Sáez González et al.,2023).展开更多
Dear Editor,Dorsal pontine lesions may cause a variety of complex neuro-ophthalmic deficits,including horizontal gaze palsy(HGP),internuclear ophthalmoplegia,one-and-ahalf syndrome,abducens nerve palsy,skew deviation,...Dear Editor,Dorsal pontine lesions may cause a variety of complex neuro-ophthalmic deficits,including horizontal gaze palsy(HGP),internuclear ophthalmoplegia,one-and-ahalf syndrome,abducens nerve palsy,skew deviation,or any combination of these.Here we present a rare case of an adult patient who developed multiple complicated clinical manifestations after surgical removal of a pontine cavernous hemangioma(PCH).Our case highlights a single pontine lesion may involve complicated neural pathways and result in complicated symptoms and signs,in which abducens nerve palsy or skew deviation is easily missed when combined with HGP.展开更多
Dear Editor,Posterior reverse encephalopathy syndrome(PRES),manifests as a confusional state/delirium,convulsion,or acute blindness which illustrates in magnetic resonance imaging(MRI)typical bilateral white matter le...Dear Editor,Posterior reverse encephalopathy syndrome(PRES),manifests as a confusional state/delirium,convulsion,or acute blindness which illustrates in magnetic resonance imaging(MRI)typical bilateral white matter lesions.These clinical and radiological changes are reversible in two to three weeks,usually generated by acute hypertension,preeclampsia,eclampsia,immunosuppression,septicemia,and end-stage renal disease.PRES is commonly diagnosed in patients in their thirties.展开更多
BACKGROUND Bullous pemphigoid(BP)is an autoimmune blistering skin disorder.It is associated with other autoimmune disorders and the use of certain drugs.We describe a case of BP in a patient with ulcerative colitis(UC...BACKGROUND Bullous pemphigoid(BP)is an autoimmune blistering skin disorder.It is associated with other autoimmune disorders and the use of certain drugs.We describe a case of BP in a patient with ulcerative colitis(UC)treated with mesalamine.CASE SUMMARY A 38-year-old male patient with UC and a history of multiple flares was maintained on mesalamine with good clinical response.One year after starting mesalamine,he sought medical care following the onset of a severe itchy rash of several weeks’duration with a recent appearance of skin bullae.A biopsy of the skin revealed subepidermal blistering dermatitis with focal eosinophilic spongiosis.Direct immunofluorescence studies revealed linear IgG and C3 immune reactant deposits at the dermoepidermal junction,consistent with the diagnosis of BP.Prednisone therapy alleviated his symptoms.However,tapering prednisone led to re-eruption of the bullae.CONCLUSION BP should be considered when patients with UC develop skin manifestations.Although BP is not one of the extraintestinal manifestations of UC,there may be an association between these two conditions.Whether treatment with mesalamine or other therapeutic agents plays a role in the development of BP remains unclear.展开更多
Autoimmune diseases frequently present with ophthalmological manifestations,posing significant diagnostic and therapeutic challenges.This review delved into the complex interplay between autoimmunity and ocular health...Autoimmune diseases frequently present with ophthalmological manifestations,posing significant diagnostic and therapeutic challenges.This review delved into the complex interplay between autoimmunity and ocular health,highlighting common manifestations such as uveitis,keratitis,and optic neuritis.We explored advanced diagnostic tools and techniques to improve early detection and accurate diagnosis.Additionally,the review addressed current therapeutic strategies,emphasizing the need for tailored treatments to manage ocular symptoms effectively while minimizing systemic side effects.By overcoming these challenges we aimed to enhance patient outcomes and quality of life for those affected by autoimmune-related eye diseases.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 Hepatitis B virus(HBV)primarily causes hepatic inflammation and has various clinical manifestations.However,extrahepatic reactions,ranging from localized or systemic inflammation,may occur in some cases.Her...BACKGROUND Hepatitis B virus(HBV)primarily causes hepatic inflammation and has various clinical manifestations.However,extrahepatic reactions,ranging from localized or systemic inflammation,may occur in some cases.Here,we report a case of an acute exacerbation of chronic HBV infection with atypical extrahepatic mani-festation confined to the skin and mucosa despite nucleotide analog treatment,which was fully recovered on systemic steroid treatment.CASE SUMMARY A 53-year-old woman visited a clinic due to worsening skin rash and mucosal inflammation.She was receiving antiviral therapy due to a recent acute exacer-bation of chronic HBV infection.While liver function was improving with anti-viral treatment,skin rash and mucosal inflammatory lesions gradually worsened.Thus,blood tests and skin biopsy were performed to determine the cause.Despite a thorough review of serum markers and skin biopsy results,a concrete diagnosis revealing other etiology apart from the acute phase of HBV infection could not be established.The cutaneous lesions were considered a rare immunologic extrahe-patic manifestation of HBV,warranting systemic steroid treatment.Afterward,both skin and mucosal lesions rapidly improved,and the patient was discharged without any sequelae.CONCLUSION Clinicians should recognize mucocutaneous manifestations of chronic HBV,as systemic steroids may yield favorable outcomes.展开更多
At the beginning of the 20^(th)century,German scientist Richard Semon introduced the term'engram'to describe the neural substrate implicated in the processes of memory formation and retrieval[1].The trace of t...At the beginning of the 20^(th)century,German scientist Richard Semon introduced the term'engram'to describe the neural substrate implicated in the processes of memory formation and retrieval[1].The trace of the corresponding biophysical and biochemical changes in the brain responding to an external stimulus is called an engram,and understanding the physical manifestations of memory formation and recall remains a fundamental yet unresolved question[2].展开更多
BACKGROUND Celiac disease(CD)is an autoimmune disease triggered by the ingestion of gluten in genetically predisposed individuals.It is more commonly diagnosed in children presenting typical clinical signs and symptom...BACKGROUND Celiac disease(CD)is an autoimmune disease triggered by the ingestion of gluten in genetically predisposed individuals.It is more commonly diagnosed in children presenting typical clinical signs and symptoms but most of the CD patients diagnosed in the developed world are silent cases with no prominent gastrointestinal features.Thus,there are silent forms of the disease in which oral manifestations are the first sign.In the pediatric population oral health can affect growth and self-esteem and have a negative impact in their life quality.AIM To assess the prevalence and types of oral manifestations in pediatric patients with CD.METHODS We performed a comprehensive literature search in PubMed,Scielo,Cochrane Library and Lilacs databases from 2014-2024.Three independent researchers screened and extracted the information,applying the eligibility criteria and bias was assessed using Joanna Briggs Institute tools.RESULTS Of the initial 241 articles,14 studies fulfilled the proposed objectives and were included in the review.The main oral manifestations found were recurrent aphthous stomatitis and enamel defects.Additionally,delayed tooth eruption,angular cheilitis,glossodynia and xerostomia were also reported.CONCLUSION Assessing oral manifestations is crucial,especially in underdiagnosed cases of children with CD.Recognizing these signs helps pediatricians or general practitioners identify them during routine exams,enabling early diagnosis and treatment to prevent negative impacts on the child’s and family’s quality of life.展开更多
BACKGROUND Gastrointestinal(GI)manifestations are prevalent in genetic myopathies,posing significant diagnostic and management challenges.AIM To synthesize evidence on the diagnostic approaches,management strategies,p...BACKGROUND Gastrointestinal(GI)manifestations are prevalent in genetic myopathies,posing significant diagnostic and management challenges.AIM To synthesize evidence on the diagnostic approaches,management strategies,patient perspectives,and future research directions regarding GI symptoms in genetic myopathies.METHODS A systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 guidelines.We searched PubMed,Scopus,EMBASE,and Web of Science from inception to December 2024.Eligible studies reported GI manifestations in genetic myopathies,including clinical evaluations,imaging,physiological tests,histopathology,and genetic analyses.Inclusion criteria encompassed original research studies,review articles,case reports,and clinical guidelines published in peer-reviewed journals.Exclusion criteria included conference abstracts without full-text availability and non-peer-reviewed sources.Two independent reviewers screened studies and extracted data.They assessed methodological quality using the Newcastle-Ottawa Scale for observational studies,A MeaSurement Tool to Assess Systematic Reviews for systematic reviews,and the Joanna Briggs Institute checklist for case reports.A systematic narrative synthesis was employed to summarize the findings.RESULTS A total of 234 studies met the inclusion criteria.GI manifestations varied widely,with dysphagia,gastroesophageal reflux,abdominal pain,constipation,diarrhea,and fecal incontinence being the most frequently reported symptoms.The included studies highlighted a multidisciplinary diagnostic approach incorporating clinical assessment,imaging,physiological testing,histopathology,and genetic testing.Management strategies ranged from dietary interventions and rehabilitative therapies to pharmacological treatments and surgical procedures.Patient perspectives underscored the significant impact of GI symptoms on quality of life,social interactions,and emotional well-being.The main limitations of the included studies were high heterogeneity in study design,small sample sizes,and the potential risk of bias due to limited methodological rigor in some reports.CONCLUSION This review underscores the complexity of GI manifestations in genetic myopathies and the need for a comprehensive,multidisciplinary management approach.Future research should focus on elucidating molecular mechanisms,identifying biomarkers,and developing targeted therapies to improve patient outcomes.The findings have implications for both clinical practice and public health,emphasizing the necessity of early diagnosis and personalized management strategies.展开更多
Attention deficit hyperactivity disorder(ADHD)turns into a common neuro progressional disorder.Although gender identity has obtained increasing attention in ADHD researches,its role in ADHD presentation and treatment ...Attention deficit hyperactivity disorder(ADHD)turns into a common neuro progressional disorder.Although gender identity has obtained increasing attention in ADHD researches,its role in ADHD presentation and treatment response remains underexplored.Our review seeks to mainly delve into the effect of gender identity on ADHD,exploring the unique needs of individuals with various gender identities in the context of ADHD symptoms,diagnostic assessment,and treatment,with the goal of supplying theoretical support and practical recommendations for future research and clinical practice.The primary content includes,specifically:(1)Symptom expression differences:Gender identity significantly affects ADHD symptoms;male-identified individuals commonly perform worse in task orientation and attention stability,while female-identified individuals may demonstrate more variability in attention control and executive functions;(2)Diagnosis and treatment:Clinical practice generally neglects the impact of gender identity on ADHD management,with personalized needs of gender-identified individuals frequently not adequately addressed,potentially,affecting treatment outcomes;and(3)Future research directions:Future studies should further assess how gender identity affects the specific mechanisms of ADHD,conduct researches in multicultural contexts,and engage in long-term follow-up studies to evaluate the long-term impact of gender identity on ADHD progression.Besides,enhanced funding and public education on the relationship between gender identity and ADHD are needed to advance the field.展开更多
BACKGROUND Colorectal cancer has high global incidence and mortality rates.Colorectal polyps are relatively common,with adenomatous polyps having a higher risk of malignant transformation.Non-alcoholic fatty liver dis...BACKGROUND Colorectal cancer has high global incidence and mortality rates.Colorectal polyps are relatively common,with adenomatous polyps having a higher risk of malignant transformation.Non-alcoholic fatty liver disease(NAFLD)has been identified as a risk factor for the development of colorectal adenomas.Here,inpatients with NAFLD from the Second People's Hospital of Xining,in Qinghai Province,and the Second People's Hospital of Tianjin were investigated,comparing the biochemical indicators,colonoscopy findings,and pathological results of polyps between patients from low-altitude(Tianjin)and high-altitude(Qinghai Province)areas.Risk factors associated with the occurrence of adenomatous polyps in NAFLD patients from high-altitude areas were also explored.AIM To investigate the clinical characteristics of colorectal polyps in NAFLD patients from high-altitude areas.METHODS A total of 848 patients with NAFLD were enrolled.Of these,118 underwent colonoscopy between January 2021 and January 2024 at the Second People's Hospital of Tianjin(low-altitude),while the remaining 730 patients were assessed during the same period at the Second People's Hospital of Xining,Qinghai(high-altitude).All enrolled patients met the diagnostic criteria for NAFLD,and the excised colorectal polyps were analyzed pathologically.RESULTS Colorectal polyps were found in 585 cases(80.1%)in the Qinghai cohort and 91 patients(77.1%)in the Tianjin group,indicating a slightly higher incidence in the Qinghai group,although the difference was non-significant(P=0.449,P>0.05).The two groups showed no significant difference in sex(P=0.153,P>0.05)but differed significantly in the proportion of younger patients(P<0.01),although no differences were seen in terms of middleaged and elderly patients(P>0.05).No differences in polyp numbers were observed between the two regions(P>0.05),while significant differences were found between the≤0.5 cm and>1 cm and≤2 cm proportions in both regions(P<0.05),with no differences in other size categories(P>0.05).Polyp locations(proximal colon,distal colon)also differed significantly(P<0.05).Patients in Qinghai were more prone to adenomatous polyps,accounting for 89.2%of polyps,compared to those from Tianjin(P<0.05).Patients in Qinghai had a higher incidence of tubular adenomas with low-grade dysplasia,while tubular adenomas with high-grade dysplasia predominated in patients from Tianjin(P<0.05).Patients in Tianjin had a significantly higher proportion of mixed hyperplastic-adenomatous polyps(P<0.05),as well as greater proportions of mixed hyperplastic-adenomas with low-grade dysplasia(P<0.05).The incidence of hyperplastic polyps was markedly higher in Tianjin,accounting for 58.4%(P<0.05).Multivariate logistic regression indicated that sex[OR=1.693,95%confidence interval(CI):1.131-2.536],smoking(OR=0.604,95%CI:0.406-0.897),hypertension(OR=0.683,95%CI:0.471-0.991),and white blood cell counts(WBC)(OR=1.091,95%CI:1.015-1.173)were risk factors for the occurrence of adenomatous polyps in patients with NAFLD in high-altitude areas(Qinghai Province).CONCLUSION Patients with NAFLD from high-altitude regions have a higher incidence of colorectal polyps,with a significantly higher incidence of adenomatous polyps compared to other polyp types.Sex,smoking,hypertension,and WBC are risk factors for adenomatous polyps in NAFLD patients in high-altitude regions.展开更多
Bone marrow edema syndrome (BMES), is a rare and self-limiting condition characterized by localized bone pain and transient marrow edema visible on MRI. BMES has been increasingly associated with specific cutaneous ma...Bone marrow edema syndrome (BMES), is a rare and self-limiting condition characterized by localized bone pain and transient marrow edema visible on MRI. BMES has been increasingly associated with specific cutaneous manifestations that may hold diagnostic and prognostic significance. Patients with BMES have reported localized erythema, dermal thickening, and induration overlying the affected joints, which are hypothesized to reflect microvascular compromise and inflammatory processes within the bone and adjacent soft tissues. Dermatologic signs are likely linked to regional hyperemia, venous stasis, and cytokine-mediated inflammation, paralleling the pathophysiological mechanisms underlying intraosseous edema. Elevated intraosseous pressure in BMES may disrupt local perfusion, resulting in ischemia-reperfusion injury and subsequent vascular leakage, which manifests in visible cutaneous changes. Pro-inflammatory mediators, such as interleukin-1β and vascular endothelial growth factor (VEGF), central to BMES pathogenesis, may exacerbate endothelial activation, and dermal involvement. Histopathologic studies of affected skin have revealed perivascular lymphocytic infiltration and increased dermal vascularity, further supporting the theory of a shared ischemic and inflammatory pathway between bone and skin. Although MRI remains the gold standard for BMES diagnosis, recognition of these cutaneous manifestations could expedite orthopedic referral and intervention, especially in cases where imaging is delayed or symptoms are ambiguous. Current treatment options, including bisphosphonates, prostacyclin analogs, and offloading of weight bearing, may benefit from integration with dermatologic strategies to alleviate localized cutaneous symptoms and improve patient comfort. Evaluating the molecular and vascular links between BMES and its cutaneous manifestations provides an opportunity to refine diagnostic protocols and therapeutic approaches, offering a comprehensive understanding of the systemic interplay between dermal and skeletal pathophysiology, and optimizing clinical outcomes for patients affected by BMES.展开更多
Addressing the issues of significant entry settlement and severe mining pressure manifestations in the conventional 121 approach,an innovative N00 approach is proposed.By comparing the mining process and entry formati...Addressing the issues of significant entry settlement and severe mining pressure manifestations in the conventional 121 approach,an innovative N00 approach is proposed.By comparing the mining process and entry formation process of different approaches,the characteristics of entry roof settlement evolution under different approaches are obtained.The N00 approach,which incorporates roof cutting and NPR cable support,optimizes the mining and entry formation process to reduce the settlement phase of entry roof,decreases the settlement of entry roof,and enhances the steadiness of entry roof.The N00 approach modifies the entry roof structure through roof cutting and establishes a hydraulic support load mechanics model for the mining panel to derive the theoretical load pressure formula for the N00 approach’s hydraulic support.Compared with the conventional 121 approach,the pressure on the N00 approach’s hydraulic support is reduced.Empirical data obtained through field monitoring demonstrate that the N00 approach has reduced the roof settlement of the entry and weakened the mining pressure manifestation at the mining panel,achieving the goal of protecting the entry and mining panel.展开更多
Rationale:Dengue fever is a mosquito-borne viral infection,which commonly presents as an acute febrile illness.As the number of cases increases,rare manifestations including neurological manifestations are occasionall...Rationale:Dengue fever is a mosquito-borne viral infection,which commonly presents as an acute febrile illness.As the number of cases increases,rare manifestations including neurological manifestations are occasionally encountered.Patient concerns:A 20-year-old female presented with fever for 3 days with slurring of speech and unsteady gait,which were developed from the third day of illness.On examination,she had bilateral cerebellar signs.Dengue non-structural protein 1 antigen and dengue IgM in serum were positive.Her cerebrospinal fluid analysis and magnetic resonance image brain were normal.Diagnosis:Dengue cerebellitis.Intervention:Supportive management with fluids including oral rehydration solutions and intravenous fluids and paracetamol.Outcome:Cerebellar symptoms and signs completely resolved by the 20th day of illness.Lesson:Dengue cerebellitis is an unusual neurological manifestation of dengue infection.展开更多
BACKGROUND Common variable immunodeficiency(CVID)is a primary antibody immunodeficiency disorder characterized by diminished IgG levels.Despite ongoing research,the precise pathogenesis of CVID remains unclear.Genetic...BACKGROUND Common variable immunodeficiency(CVID)is a primary antibody immunodeficiency disorder characterized by diminished IgG levels.Despite ongoing research,the precise pathogenesis of CVID remains unclear.Genetic factors account for only 10%-20%of cases,with an estimated incidence of 1 in 10000 to 1 in 100000,affecting individuals across all age groups.CASE SUMMARY We report the case of a 32-year-old man with CVID who presented with a chief complaint of“recurrent diarrhea and significant weight loss over the past 2 years”.Laboratory tests on admission showed fat droplets in stool,while other parameters were within normal ranges.Gastroscopy revealed a smooth gastric mucosa without bile retention or signs of Helicobacter pylori infection;however,the mucosa of the descending segment of the duodenum appeared rough.Further evaluation of the small intestine using computed tomography indicated no abnormalities.Finally,the whole-small bowel double-balloon enteroscopy(DBE)was performed,which revealed various phenotypic changes in the small intestinal mucosa.The patient was diagnosed with CVID,which improved after immunoglobulin therapy,with favorable follow-up outcomes.CONCLUSION Non-infectious enteropathy in CVID is rare.Therefore,DBE is essential for diagnosing small intestinal involvement in such cases.展开更多
Adult Still's Disease(ASD)is a systemic inflammatory disorder of unknown etiology,thought to be triggered by infectious agents in genetically susceptible individuals,resulting in aberrant cytokine production inclu...Adult Still's Disease(ASD)is a systemic inflammatory disorder of unknown etiology,thought to be triggered by infectious agents in genetically susceptible individuals,resulting in aberrant cytokine production including interleukin(IL)−1,IL-6,AND IL-18.The disease severity varies and may include macrophage activation syndrome(mas),a potentially life-threatening complication.It is associated with seronegative chronic polyarthritis,predominantly affecting young individuals.It is a rare condition with a complex diagnosis due to its overlapping clinical features with more common diseases.展开更多
Objective The clinical features,disease course and visual outcomes of toxoplasmosis are less commonly reported in China than in other countries.To reduce misdiagnosis and improve visual function,the clinical character...Objective The clinical features,disease course and visual outcomes of toxoplasmosis are less commonly reported in China than in other countries.To reduce misdiagnosis and improve visual function,the clinical characteristics,management and visual outcomes of 13 cases of ocular toxoplasmosis(OT)were described.Methods This retrospective study included 14 eyes of 13 patients who were diagnosed with OT in Hubei,China.The clinical characteristics,course of treatment and outcomes are presented.There were 7 males and 6 females.Results The main form of OT was retinochoroiditis with vitritis or anterior uveitis.Next-generation sequencing was applied to 3 eyes,and positive results were found in those eyes.Thirteen patients were positive for Toxoplasma gondii IgG antibodies,and 3 of them were also positive for IgM T.gondii antibodies.One patient with acquired immune deficiency syndrome was diagnosed with coinfection with OT and cytomegalovirus,as evidenced by an aqueous humor etiological test.Three patients were misdiagnosed with noninfectious uveitis.Recurrence occurred in 3 eyes during the follow-up periods.One patient who received vitreous implantation of Ozurdex therapy at another hospital before referral relapsed.One patient who received sulfadiazine,azithromycin and glucocorticoid therapy relapsed.One patient who received sulfadiazine therapy experienced relapse.Patients who received clindamycin and sulfadiazine or who received clindamycin only did not experience recurrence during the follow-up period.The best corrected visual acuity was improved in 6 eyes after inflammation resolved.Conclusions Primary active retinochoroiditis is the main form of OT in Hubei,China.Timely correct diagnosis on the basis of ocular characteristics and aetiological test results and effective treatment should be adopted to prevent poor visual outcomes and recurrence.展开更多
基金supported by the grants No.82370912 from the National Natural Science Foundation of ChinaNo.2022020801010499 from the Bureau of Science and Technology of Wuhan,ChinaNo.2042023kf0231 from the Fundamental Research Funds for the Central Universities,China。
文摘Tooth developmental anomalies are a group of disorders caused by unfavorable factors affecting the tooth development process,resulting in abnormalities in tooth number,structure,and morphology.These anomalies typically manifest during childhood,impairing dental function,maxillofacial development,and facial aesthetics,while also potentially impacting overall physical and mental health.The complex etiology and diverse clinical phenotypes of these anomalies pose significant challenges for prevention,early diagnosis,and treatment.As they usually emerge early in life,long-term management and multidisciplinary collaboration in dental care are essential.However,there is currently a lack of systematic clinical guidelines for the diagnosis and treatment of these conditions,adding to the difficulties in clinical practice.In response to this need,this expert consensus summarizes the classifications,etiology,typical clinical manifestations,and diagnostic criteria of tooth developmental anomalies based on current clinical evidence.It also provides prevention strategies and stage-specific clinical management recommendations to guide clinicians in diagnosis and treatment,promoting early intervention and standardized care for these anomalies.
文摘Primary hepatic leiomyosarcoma is a very rare disease,accounting for less than 1%of all primary hepatic malignancies[1].As a malignant tumor of the smooth muscle,it originates in the hepatic blood vessels,bile ducts or round ligaments of the liver[2,3].The clinical manifestations are nonspecific,and tumors are usually asymptomatic until they are relatively large in size.Primary hepatic leiomyosarcoma is characterized by a relatively poor prognosis and aggressive metastatic potential[3].The specific etiology and pathogenesis of primary hepatic leiomyosarcoma are still unclear.Several studies indicated that primary hepatic leiomyosarcoma might be related to acquired immune deficiency syndrome[4],Epstein-Barr virus[5],immunosuppression after organ transplantation[6],hepatitis virus[7,8],Hodgkin’s lymphoma[9]and other medical histories.Here,we present a case of primary hepatic leiomyosarcoma.
文摘GNAO1-associated disorder is a rare disease and an example of developmental and epileptic encephalopathies.Caused by ca.150 different dominant missense mutations in the gene encoding the major neuronal G protein Gao,it spans a wide range of neurological clinical manifestations,that may include epileptic seizures,motor dysfunctions,developmental and intellectual delay,and other symptoms(Sáez González et al.,2023).
文摘Dear Editor,Dorsal pontine lesions may cause a variety of complex neuro-ophthalmic deficits,including horizontal gaze palsy(HGP),internuclear ophthalmoplegia,one-and-ahalf syndrome,abducens nerve palsy,skew deviation,or any combination of these.Here we present a rare case of an adult patient who developed multiple complicated clinical manifestations after surgical removal of a pontine cavernous hemangioma(PCH).Our case highlights a single pontine lesion may involve complicated neural pathways and result in complicated symptoms and signs,in which abducens nerve palsy or skew deviation is easily missed when combined with HGP.
文摘Dear Editor,Posterior reverse encephalopathy syndrome(PRES),manifests as a confusional state/delirium,convulsion,or acute blindness which illustrates in magnetic resonance imaging(MRI)typical bilateral white matter lesions.These clinical and radiological changes are reversible in two to three weeks,usually generated by acute hypertension,preeclampsia,eclampsia,immunosuppression,septicemia,and end-stage renal disease.PRES is commonly diagnosed in patients in their thirties.
文摘BACKGROUND Bullous pemphigoid(BP)is an autoimmune blistering skin disorder.It is associated with other autoimmune disorders and the use of certain drugs.We describe a case of BP in a patient with ulcerative colitis(UC)treated with mesalamine.CASE SUMMARY A 38-year-old male patient with UC and a history of multiple flares was maintained on mesalamine with good clinical response.One year after starting mesalamine,he sought medical care following the onset of a severe itchy rash of several weeks’duration with a recent appearance of skin bullae.A biopsy of the skin revealed subepidermal blistering dermatitis with focal eosinophilic spongiosis.Direct immunofluorescence studies revealed linear IgG and C3 immune reactant deposits at the dermoepidermal junction,consistent with the diagnosis of BP.Prednisone therapy alleviated his symptoms.However,tapering prednisone led to re-eruption of the bullae.CONCLUSION BP should be considered when patients with UC develop skin manifestations.Although BP is not one of the extraintestinal manifestations of UC,there may be an association between these two conditions.Whether treatment with mesalamine or other therapeutic agents plays a role in the development of BP remains unclear.
文摘Autoimmune diseases frequently present with ophthalmological manifestations,posing significant diagnostic and therapeutic challenges.This review delved into the complex interplay between autoimmunity and ocular health,highlighting common manifestations such as uveitis,keratitis,and optic neuritis.We explored advanced diagnostic tools and techniques to improve early detection and accurate diagnosis.Additionally,the review addressed current therapeutic strategies,emphasizing the need for tailored treatments to manage ocular symptoms effectively while minimizing systemic side effects.By overcoming these challenges we aimed to enhance patient outcomes and quality of life for those affected by autoimmune-related eye diseases.
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.
基金Supported by Chonnam National University Hospital Biomedical Research Institute,No.BCRE23215.
文摘BACKGROUND Hepatitis B virus(HBV)primarily causes hepatic inflammation and has various clinical manifestations.However,extrahepatic reactions,ranging from localized or systemic inflammation,may occur in some cases.Here,we report a case of an acute exacerbation of chronic HBV infection with atypical extrahepatic mani-festation confined to the skin and mucosa despite nucleotide analog treatment,which was fully recovered on systemic steroid treatment.CASE SUMMARY A 53-year-old woman visited a clinic due to worsening skin rash and mucosal inflammation.She was receiving antiviral therapy due to a recent acute exacer-bation of chronic HBV infection.While liver function was improving with anti-viral treatment,skin rash and mucosal inflammatory lesions gradually worsened.Thus,blood tests and skin biopsy were performed to determine the cause.Despite a thorough review of serum markers and skin biopsy results,a concrete diagnosis revealing other etiology apart from the acute phase of HBV infection could not be established.The cutaneous lesions were considered a rare immunologic extrahe-patic manifestation of HBV,warranting systemic steroid treatment.Afterward,both skin and mucosal lesions rapidly improved,and the patient was discharged without any sequelae.CONCLUSION Clinicians should recognize mucocutaneous manifestations of chronic HBV,as systemic steroids may yield favorable outcomes.
文摘At the beginning of the 20^(th)century,German scientist Richard Semon introduced the term'engram'to describe the neural substrate implicated in the processes of memory formation and retrieval[1].The trace of the corresponding biophysical and biochemical changes in the brain responding to an external stimulus is called an engram,and understanding the physical manifestations of memory formation and recall remains a fundamental yet unresolved question[2].
文摘BACKGROUND Celiac disease(CD)is an autoimmune disease triggered by the ingestion of gluten in genetically predisposed individuals.It is more commonly diagnosed in children presenting typical clinical signs and symptoms but most of the CD patients diagnosed in the developed world are silent cases with no prominent gastrointestinal features.Thus,there are silent forms of the disease in which oral manifestations are the first sign.In the pediatric population oral health can affect growth and self-esteem and have a negative impact in their life quality.AIM To assess the prevalence and types of oral manifestations in pediatric patients with CD.METHODS We performed a comprehensive literature search in PubMed,Scielo,Cochrane Library and Lilacs databases from 2014-2024.Three independent researchers screened and extracted the information,applying the eligibility criteria and bias was assessed using Joanna Briggs Institute tools.RESULTS Of the initial 241 articles,14 studies fulfilled the proposed objectives and were included in the review.The main oral manifestations found were recurrent aphthous stomatitis and enamel defects.Additionally,delayed tooth eruption,angular cheilitis,glossodynia and xerostomia were also reported.CONCLUSION Assessing oral manifestations is crucial,especially in underdiagnosed cases of children with CD.Recognizing these signs helps pediatricians or general practitioners identify them during routine exams,enabling early diagnosis and treatment to prevent negative impacts on the child’s and family’s quality of life.
文摘BACKGROUND Gastrointestinal(GI)manifestations are prevalent in genetic myopathies,posing significant diagnostic and management challenges.AIM To synthesize evidence on the diagnostic approaches,management strategies,patient perspectives,and future research directions regarding GI symptoms in genetic myopathies.METHODS A systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 guidelines.We searched PubMed,Scopus,EMBASE,and Web of Science from inception to December 2024.Eligible studies reported GI manifestations in genetic myopathies,including clinical evaluations,imaging,physiological tests,histopathology,and genetic analyses.Inclusion criteria encompassed original research studies,review articles,case reports,and clinical guidelines published in peer-reviewed journals.Exclusion criteria included conference abstracts without full-text availability and non-peer-reviewed sources.Two independent reviewers screened studies and extracted data.They assessed methodological quality using the Newcastle-Ottawa Scale for observational studies,A MeaSurement Tool to Assess Systematic Reviews for systematic reviews,and the Joanna Briggs Institute checklist for case reports.A systematic narrative synthesis was employed to summarize the findings.RESULTS A total of 234 studies met the inclusion criteria.GI manifestations varied widely,with dysphagia,gastroesophageal reflux,abdominal pain,constipation,diarrhea,and fecal incontinence being the most frequently reported symptoms.The included studies highlighted a multidisciplinary diagnostic approach incorporating clinical assessment,imaging,physiological testing,histopathology,and genetic testing.Management strategies ranged from dietary interventions and rehabilitative therapies to pharmacological treatments and surgical procedures.Patient perspectives underscored the significant impact of GI symptoms on quality of life,social interactions,and emotional well-being.The main limitations of the included studies were high heterogeneity in study design,small sample sizes,and the potential risk of bias due to limited methodological rigor in some reports.CONCLUSION This review underscores the complexity of GI manifestations in genetic myopathies and the need for a comprehensive,multidisciplinary management approach.Future research should focus on elucidating molecular mechanisms,identifying biomarkers,and developing targeted therapies to improve patient outcomes.The findings have implications for both clinical practice and public health,emphasizing the necessity of early diagnosis and personalized management strategies.
基金Supported by the Central Guiding Local Science and Technology Development Fund Project,No.YDZX2022091。
文摘Attention deficit hyperactivity disorder(ADHD)turns into a common neuro progressional disorder.Although gender identity has obtained increasing attention in ADHD researches,its role in ADHD presentation and treatment response remains underexplored.Our review seeks to mainly delve into the effect of gender identity on ADHD,exploring the unique needs of individuals with various gender identities in the context of ADHD symptoms,diagnostic assessment,and treatment,with the goal of supplying theoretical support and practical recommendations for future research and clinical practice.The primary content includes,specifically:(1)Symptom expression differences:Gender identity significantly affects ADHD symptoms;male-identified individuals commonly perform worse in task orientation and attention stability,while female-identified individuals may demonstrate more variability in attention control and executive functions;(2)Diagnosis and treatment:Clinical practice generally neglects the impact of gender identity on ADHD management,with personalized needs of gender-identified individuals frequently not adequately addressed,potentially,affecting treatment outcomes;and(3)Future research directions:Future studies should further assess how gender identity affects the specific mechanisms of ADHD,conduct researches in multicultural contexts,and engage in long-term follow-up studies to evaluate the long-term impact of gender identity on ADHD progression.Besides,enhanced funding and public education on the relationship between gender identity and ADHD are needed to advance the field.
基金Supported by Tianjin Key Medical Discipline Construction Project,No.TJYXZDXK-3-019B.
文摘BACKGROUND Colorectal cancer has high global incidence and mortality rates.Colorectal polyps are relatively common,with adenomatous polyps having a higher risk of malignant transformation.Non-alcoholic fatty liver disease(NAFLD)has been identified as a risk factor for the development of colorectal adenomas.Here,inpatients with NAFLD from the Second People's Hospital of Xining,in Qinghai Province,and the Second People's Hospital of Tianjin were investigated,comparing the biochemical indicators,colonoscopy findings,and pathological results of polyps between patients from low-altitude(Tianjin)and high-altitude(Qinghai Province)areas.Risk factors associated with the occurrence of adenomatous polyps in NAFLD patients from high-altitude areas were also explored.AIM To investigate the clinical characteristics of colorectal polyps in NAFLD patients from high-altitude areas.METHODS A total of 848 patients with NAFLD were enrolled.Of these,118 underwent colonoscopy between January 2021 and January 2024 at the Second People's Hospital of Tianjin(low-altitude),while the remaining 730 patients were assessed during the same period at the Second People's Hospital of Xining,Qinghai(high-altitude).All enrolled patients met the diagnostic criteria for NAFLD,and the excised colorectal polyps were analyzed pathologically.RESULTS Colorectal polyps were found in 585 cases(80.1%)in the Qinghai cohort and 91 patients(77.1%)in the Tianjin group,indicating a slightly higher incidence in the Qinghai group,although the difference was non-significant(P=0.449,P>0.05).The two groups showed no significant difference in sex(P=0.153,P>0.05)but differed significantly in the proportion of younger patients(P<0.01),although no differences were seen in terms of middleaged and elderly patients(P>0.05).No differences in polyp numbers were observed between the two regions(P>0.05),while significant differences were found between the≤0.5 cm and>1 cm and≤2 cm proportions in both regions(P<0.05),with no differences in other size categories(P>0.05).Polyp locations(proximal colon,distal colon)also differed significantly(P<0.05).Patients in Qinghai were more prone to adenomatous polyps,accounting for 89.2%of polyps,compared to those from Tianjin(P<0.05).Patients in Qinghai had a higher incidence of tubular adenomas with low-grade dysplasia,while tubular adenomas with high-grade dysplasia predominated in patients from Tianjin(P<0.05).Patients in Tianjin had a significantly higher proportion of mixed hyperplastic-adenomatous polyps(P<0.05),as well as greater proportions of mixed hyperplastic-adenomas with low-grade dysplasia(P<0.05).The incidence of hyperplastic polyps was markedly higher in Tianjin,accounting for 58.4%(P<0.05).Multivariate logistic regression indicated that sex[OR=1.693,95%confidence interval(CI):1.131-2.536],smoking(OR=0.604,95%CI:0.406-0.897),hypertension(OR=0.683,95%CI:0.471-0.991),and white blood cell counts(WBC)(OR=1.091,95%CI:1.015-1.173)were risk factors for the occurrence of adenomatous polyps in patients with NAFLD in high-altitude areas(Qinghai Province).CONCLUSION Patients with NAFLD from high-altitude regions have a higher incidence of colorectal polyps,with a significantly higher incidence of adenomatous polyps compared to other polyp types.Sex,smoking,hypertension,and WBC are risk factors for adenomatous polyps in NAFLD patients in high-altitude regions.
文摘Bone marrow edema syndrome (BMES), is a rare and self-limiting condition characterized by localized bone pain and transient marrow edema visible on MRI. BMES has been increasingly associated with specific cutaneous manifestations that may hold diagnostic and prognostic significance. Patients with BMES have reported localized erythema, dermal thickening, and induration overlying the affected joints, which are hypothesized to reflect microvascular compromise and inflammatory processes within the bone and adjacent soft tissues. Dermatologic signs are likely linked to regional hyperemia, venous stasis, and cytokine-mediated inflammation, paralleling the pathophysiological mechanisms underlying intraosseous edema. Elevated intraosseous pressure in BMES may disrupt local perfusion, resulting in ischemia-reperfusion injury and subsequent vascular leakage, which manifests in visible cutaneous changes. Pro-inflammatory mediators, such as interleukin-1β and vascular endothelial growth factor (VEGF), central to BMES pathogenesis, may exacerbate endothelial activation, and dermal involvement. Histopathologic studies of affected skin have revealed perivascular lymphocytic infiltration and increased dermal vascularity, further supporting the theory of a shared ischemic and inflammatory pathway between bone and skin. Although MRI remains the gold standard for BMES diagnosis, recognition of these cutaneous manifestations could expedite orthopedic referral and intervention, especially in cases where imaging is delayed or symptoms are ambiguous. Current treatment options, including bisphosphonates, prostacyclin analogs, and offloading of weight bearing, may benefit from integration with dermatologic strategies to alleviate localized cutaneous symptoms and improve patient comfort. Evaluating the molecular and vascular links between BMES and its cutaneous manifestations provides an opportunity to refine diagnostic protocols and therapeutic approaches, offering a comprehensive understanding of the systemic interplay between dermal and skeletal pathophysiology, and optimizing clinical outcomes for patients affected by BMES.
基金Project(2022XDHZ12)supported by the Lvliang Technology Project,ChinaProjects(8232056,2232080)supported by the Beijing Natural Science Foundation,ChinaProject([2020]3008)supported by the Science and Technology Projects in Guizhou Province,China。
文摘Addressing the issues of significant entry settlement and severe mining pressure manifestations in the conventional 121 approach,an innovative N00 approach is proposed.By comparing the mining process and entry formation process of different approaches,the characteristics of entry roof settlement evolution under different approaches are obtained.The N00 approach,which incorporates roof cutting and NPR cable support,optimizes the mining and entry formation process to reduce the settlement phase of entry roof,decreases the settlement of entry roof,and enhances the steadiness of entry roof.The N00 approach modifies the entry roof structure through roof cutting and establishes a hydraulic support load mechanics model for the mining panel to derive the theoretical load pressure formula for the N00 approach’s hydraulic support.Compared with the conventional 121 approach,the pressure on the N00 approach’s hydraulic support is reduced.Empirical data obtained through field monitoring demonstrate that the N00 approach has reduced the roof settlement of the entry and weakened the mining pressure manifestation at the mining panel,achieving the goal of protecting the entry and mining panel.
文摘Rationale:Dengue fever is a mosquito-borne viral infection,which commonly presents as an acute febrile illness.As the number of cases increases,rare manifestations including neurological manifestations are occasionally encountered.Patient concerns:A 20-year-old female presented with fever for 3 days with slurring of speech and unsteady gait,which were developed from the third day of illness.On examination,she had bilateral cerebellar signs.Dengue non-structural protein 1 antigen and dengue IgM in serum were positive.Her cerebrospinal fluid analysis and magnetic resonance image brain were normal.Diagnosis:Dengue cerebellitis.Intervention:Supportive management with fluids including oral rehydration solutions and intravenous fluids and paracetamol.Outcome:Cerebellar symptoms and signs completely resolved by the 20th day of illness.Lesson:Dengue cerebellitis is an unusual neurological manifestation of dengue infection.
基金Supported by National Natural Science Foundation of China,No.82360120Ten Thousand Doctor Plan in Yunnan Province,No.YNWRMY-2018-020Yunnan Provincial Key Laboratory of Clinical Virology,No.202205AG070053-07.
文摘BACKGROUND Common variable immunodeficiency(CVID)is a primary antibody immunodeficiency disorder characterized by diminished IgG levels.Despite ongoing research,the precise pathogenesis of CVID remains unclear.Genetic factors account for only 10%-20%of cases,with an estimated incidence of 1 in 10000 to 1 in 100000,affecting individuals across all age groups.CASE SUMMARY We report the case of a 32-year-old man with CVID who presented with a chief complaint of“recurrent diarrhea and significant weight loss over the past 2 years”.Laboratory tests on admission showed fat droplets in stool,while other parameters were within normal ranges.Gastroscopy revealed a smooth gastric mucosa without bile retention or signs of Helicobacter pylori infection;however,the mucosa of the descending segment of the duodenum appeared rough.Further evaluation of the small intestine using computed tomography indicated no abnormalities.Finally,the whole-small bowel double-balloon enteroscopy(DBE)was performed,which revealed various phenotypic changes in the small intestinal mucosa.The patient was diagnosed with CVID,which improved after immunoglobulin therapy,with favorable follow-up outcomes.CONCLUSION Non-infectious enteropathy in CVID is rare.Therefore,DBE is essential for diagnosing small intestinal involvement in such cases.
文摘Adult Still's Disease(ASD)is a systemic inflammatory disorder of unknown etiology,thought to be triggered by infectious agents in genetically susceptible individuals,resulting in aberrant cytokine production including interleukin(IL)−1,IL-6,AND IL-18.The disease severity varies and may include macrophage activation syndrome(mas),a potentially life-threatening complication.It is associated with seronegative chronic polyarthritis,predominantly affecting young individuals.It is a rare condition with a complex diagnosis due to its overlapping clinical features with more common diseases.
基金Hubei Natural Science Foundation of China(No.2022CFB296).
文摘Objective The clinical features,disease course and visual outcomes of toxoplasmosis are less commonly reported in China than in other countries.To reduce misdiagnosis and improve visual function,the clinical characteristics,management and visual outcomes of 13 cases of ocular toxoplasmosis(OT)were described.Methods This retrospective study included 14 eyes of 13 patients who were diagnosed with OT in Hubei,China.The clinical characteristics,course of treatment and outcomes are presented.There were 7 males and 6 females.Results The main form of OT was retinochoroiditis with vitritis or anterior uveitis.Next-generation sequencing was applied to 3 eyes,and positive results were found in those eyes.Thirteen patients were positive for Toxoplasma gondii IgG antibodies,and 3 of them were also positive for IgM T.gondii antibodies.One patient with acquired immune deficiency syndrome was diagnosed with coinfection with OT and cytomegalovirus,as evidenced by an aqueous humor etiological test.Three patients were misdiagnosed with noninfectious uveitis.Recurrence occurred in 3 eyes during the follow-up periods.One patient who received vitreous implantation of Ozurdex therapy at another hospital before referral relapsed.One patient who received sulfadiazine,azithromycin and glucocorticoid therapy relapsed.One patient who received sulfadiazine therapy experienced relapse.Patients who received clindamycin and sulfadiazine or who received clindamycin only did not experience recurrence during the follow-up period.The best corrected visual acuity was improved in 6 eyes after inflammation resolved.Conclusions Primary active retinochoroiditis is the main form of OT in Hubei,China.Timely correct diagnosis on the basis of ocular characteristics and aetiological test results and effective treatment should be adopted to prevent poor visual outcomes and recurrence.
