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A case report of atypical optic neuritis 认领 引用
1
作者 XI Lei LI Juan +1 位作者 CHEN Xiaojun FEI Wenlei 《中南大学学报（医学版）》 CAS CSCD 北大核心 2026年第2期350-358,共9页
Optic neuritis is a severe blinding ocular disease,and identifying its etiology is crucial for selecting appropriate treatment strategies and evaluating patient prognosis.This paper reports the clinical data of a pati... Optic neuritis is a severe blinding ocular disease,and identifying its etiology is crucial for selecting appropriate treatment strategies and evaluating patient prognosis.This paper reports the clinical data of a patient initially presenting with unilateral visual decline who was ultimately diagnosed with bilateral atypical optic neuritis.The patient was a 40-yearold male who presented with decreased vision in the left eye for 2 weeks.Fundus examination at admission revealed bilateral optic disc edema,leading to a diagnosis of bilateral atypical optic neuritis.Systemic examination showed a positive Treponema pallidum particle agglutination test.After a series of serological and cerebrospinal fluid examinations for syphilis,syphilitic optic neuritis was excluded.The patient showed a poor response to conventional treatment for optic neuritis.Further comprehensive brain and ocular examinations were performed.After excluding multiple possible causes of optic neuritis,mitochondrial gene testing ultimately confirmed the diagnosis of Leber hereditary optic neuropathy(LHON).For young male patients presenting with acute vision loss,bilateral involvement,and typical fundus findings,etiological investigation should be emphasized,particularly the application of genetic testing,to achieve early diagnosis and timely treatment. 展开更多
关键词 optic neuritis,atypical optic disc edema syphilis Leber hereditary optic neuropathy
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On the Characterization of Data Guarantee:New Atypical Guarantee 认领 引用
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作者 Peng Chengxin Gong Sihan 《Contemporary Social Sciences》 2026年第2期120-138,共19页
Data guarantee is a new atypical guarantee that has arisen in digital society.Its atypicality is manifested in that,absent an agreement to the contrary between the parties,and based on a reasonable presumption regardi... Data guarantee is a new atypical guarantee that has arisen in digital society.Its atypicality is manifested in that,absent an agreement to the contrary between the parties,and based on a reasonable presumption regarding the parties’agreement and transaction expectations,the scope of validity of a data guarantee covers the data and the income generated by it,and the guarantor may,within the scope of a general authorization granted by the secured party,make limited use of the data and its income.In the digital society,the core connotation of value rights has shifted from exchange value to income value,and the income generated by data forms the foundation of guarantee value.The operational model of a data guarantee is as follows:the guarantor creates security based on its data property rights and may continue to use the data and derive income from it;the secured party exercises control over data use permissions and the flow of income.The secured party’s ability to realize its rights is predicated on full technical control over the collateral.In the events specified by law or agreed upon by the parties-such as the debtor’s failure to perform due obligations or other events agreed upon by the parties that jeopardize the security right-the secured party can,through technical control,cut off the guarantor’s continued access to the data and have priority to be satisfied from the data and the income it generates during the security period. 展开更多
关键词 data guarantee data property rights new atypical guarantee income value technical control
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Atypical NLR pairs in wheat:Sensor–helper NLRs conferring disease resistance 认领 引用
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作者 Yanbin Guan Xuening Zhang +4 位作者 Zabta Khan Shinwari Jian Chen Guang Qi Fengquan Liu Huan Chen 《Journal of Integrative Plant Biology》 SCIE CAS CSCD 2026年第7期1941-1943,共3页
The discovery and deployment of nucleotide‐binding leucine-rich repeat receptors(NLRs)from wild relatives are critical strategies to broaden the disease resistance of wheat.Six papers have reported the discovery of s... The discovery and deployment of nucleotide‐binding leucine-rich repeat receptors(NLRs)from wild relatives are critical strategies to broaden the disease resistance of wheat.Six papers have reported the discovery of several atypical NLR pairs from wild emmer wheat(WEW),demonstrating a sensor–helper mechanism. 展开更多
关键词 atypical nlr pairs sensor helper mechanism broaden disease resistance wild emmer wheat wew demonstrating wild relatives sensor helper nlrs disease resistance nucleotide binding leucine rich repeat receptors
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An HK1 pathogenic variant associated with an atypical retinal dystrophy phenotype:a case report and insights from literature 认领 引用
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作者 Yong-Yue Su Kai-Rui Qiu +1 位作者 Feng Wen Xiao-Lai Zhou 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2026年第8期1647-1651,共5页
Dear Editor,Hexokinase 1(HK1)catalyzes the phosphorylation of glucose to glucose-6-phosphate,the first rate-limiting step in glucose metabolism[1-2].HK1 exhibits strong expression in various retinal layers,including t... Dear Editor,Hexokinase 1(HK1)catalyzes the phosphorylation of glucose to glucose-6-phosphate,the first rate-limiting step in glucose metabolism[1-2].HK1 exhibits strong expression in various retinal layers,including the photoreceptor inner segment,inner and outer plexiform layers,inner nuclear layer,and ganglion cell layer[3-4].Pathogenic variants in the HK1 gene have been implicated in inherited retinal dystrophies,most commonly autosomal dominant retinitis pigmentosa(RP)[5-9]. 展开更多
关键词 retinal layersincluding photoreceptor inner segmentinner glucose metabolism hk ganglion cell layer pathogenic variants case report hexokinase atypical retinal dystrophy phenotype pathogenic variant
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Fluorescence Light-Up Detection and Imaging of Atypical Nucleic Acid Structures 认领 引用
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作者 Chen Bingyan Sun Jie +1 位作者 Xiong Linghong He Xuewen 《有机化学》 SCIE CAS CSCD 北大核心 2025年第11期4082-4107,共26页
Compared to the single-stranded and double-stranded types of classical nucleic acid structures,atypical nucleic acid structures(such as G4s,i-motif,Triplex,and cyclic nucleic acids)are gradually becoming hotspots in b... Compared to the single-stranded and double-stranded types of classical nucleic acid structures,atypical nucleic acid structures(such as G4s,i-motif,Triplex,and cyclic nucleic acids)are gradually becoming hotspots in biomedical research due to their important biological functions and the close correlation between their abnormal dynamics equilibrium in physiological environments and a variety of hard-tackle diseases.The traditional gel electrophoresis,nuclear magnetic resonance,and circular dichroism detection techniques have shortcomings such as low spatial resolution,high destructiveness,and lack of real-time dynamic monitoring capability.In recent years,fluorescence imaging has gradually become a cutting-edge tool for non-classical nucleic acid structure detection due to their high sensitivity,fast response and dynamic real-time observation performance.In this contribution,we review the fluorescence materials for lighting-up imaging of non-classical nucleic acid structures,including traditional fluorescent small molecules and aggregation-induced emission luminogens(AIEgens).The design principles,detection mechanisms and application scenarios are detailed.Current fluorescence probes have already improved qualities in recognition targetability and signal-to-noise ratio by tuning and optimizing molecular structure-property relationships,but still face challenges such as insufficient selectivity and poor penetration capability in vivo.In the future,it is necessary to integrate multimodal imaging,artificial intelligence-assisted design and targeted delivery system to build a highly sensitive and multi-channel responsive platform to thoroughly disclose the association between the dynamic conformation of nucleic acid and disease,and to promote the development of precise and novel therapeutic strategies. 展开更多
关键词 atypical nucleic acid structure G-quadruplexes(G4s) fluorescence probe selective recognition high sensitivity aggregation-induced emission(AIE) precise medicine
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Atypical case of Rett syndrome with concurrent MECP2 gene mutation and del(15)(q22qter)karyotype:A case report and review of literature 认领 引用
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作者 Imad Fadl-Elmula Sara Y Abdel-Raheem Rayan Khalid 《World Journal of Clinical Pediatrics》 2025年第4期516-522,共7页
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
关键词 Rett syndrome Autism spectrum disorder Methyl-CpG-binding protein two gene mutation,Chromosome 15 deletion Atypical presentation Chromosomal analysis Case report
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Echinococcus granulosus in atypical localizations:Five case reports 认领 引用 被引量：1
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作者 Ayse Sena Celik Hacer Yosunkaya +2 位作者 Aysel Yayilkan Ozyilmaz Kemal Bugra Memis Sonay Aydin 《World Journal of Nephrology》 2025年第2期158-167,共10页
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
关键词 Hydatid disease Atypical localization Renal hydatid disease Extrapulmonary hydatid disease Case report
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Macular microvascular and structural changes on optical coherence tomography angiography in atypical optic neuritis 认领 引用 被引量：1
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作者 Chinmay Mahatme Madhurima Kaushik +2 位作者 Veerappan Rathinasabapathy Saravanan Karthik Kumar Virna M Shah 《World Journal of Methodology》 2025年第1期88-94,共7页
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
关键词 Optical coherence tomography angiography Atypical optic neuritis Macular microvascular changes Neuromyelitis optica spectrum disorders Myelin oligodendrocyte glycoprotein antibody disorder
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Diagnostic challenges and treatment approaches for hydatid cysts in atypical localizations 认领 引用
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作者 Konstantin Semash Mikhail Voskanov 《World Journal of Nephrology》 2025年第3期13-19,共7页
Hydatid disease,caused by the Echinococcus granulosus parasite,is traditionally associated with liver and lung involvement.However,recent years have seen an increase in cases with atypical localizations,such as the ki... Hydatid disease,caused by the Echinococcus granulosus parasite,is traditionally associated with liver and lung involvement.However,recent years have seen an increase in cases with atypical localizations,such as the kidneys,thyroid,soft tissues,and bones.The study by Celik et al presents a series of five clinical cases where hydatid cysts were found in these rare anatomical regions,challenging conventional diagnostic and therapeutic approaches.The paper emphasizes the importance of differential diagnosis,as these cases can mimic other conditions,such as cancer,abscesses,or cysts.Advanced imaging techniques,such as com-puted tomography,magnetic resonance imaging,and ultrasound,play a crucial role in accurate diagnosis and help avoid misdiagnosis.The study demonstrates that early diagnosis and appropriate treatment of echinococosis in atypical localiz-ations are critical for preventing complications like cyst rupture and secondary infections.The use of albendazole and surgical intervention,especially in combi-nation with modern imaging techniques,yields good outcomes in these patients.However,several unanswered questions remain:What are the precise criteria for selecting the optimal treatment method in each case?What is the long-term effect-iveness of different approaches?Do patients with hydatid cysts in atypical lo-cations require additional monitoring and preventive treatment to avoid recu-rrence?Addressing these questions requires further research,and a multidisci-plinary approach involving radiologists,surgeons,and infectious disease spe-cialists is essential to optimize diagnosis and treatment.Early and accurate diagnostic methods based on differential diagnosis play a key role in improving treatment outcomes and reducing morbidity. 展开更多
关键词 Echinococcosis Echinococcosis granulosus Hydatid disease Atypical localization Diagnosis Surgery Imaging Multidisciplinary management
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Importance of symptoms acuity for clinical diagnosis of primary sellar atypical teratoid/rhabdoid tumor 认领 引用
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作者 Run Yu 《World Journal of Clinical Oncology》 2025年第5期51-60,共10页
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 teratoidhabdoid 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
关键词 Sellar atypical teratoidhabdoid tumor Sellar compression symptoms Headache Visual symptoms Symptom acuity Clinical diagnosis
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Specific imaging features of sellar atypical teratoid/rhabdoid tumor or the lack of thereof 认领 引用
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作者 Run Yu 《World Journal of Radiology》 2025年第5期17-24,共8页
Primary sellar atypical teratoidhabdoid 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 af... Primary sellar atypical teratoidhabdoid 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
关键词 Primary sellar atypical teratoidhabdoid tumor Sellar imaging Sellar mass Pituitary macroadenoma Optic chiasm Cavernous sinus
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Ignoring atypical symptoms of depression in common scales 认领 引用
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作者 Evgeny D Kasyanov Yana V Yakovleva +1 位作者 Egor S Shchepkin Galina E Mazo 《World Journal of Psychiatry》 SCIE 2025年第11期367-375,共9页
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
关键词 Atypical depression Bipolar disorder Mood reactivity Depression assessment scales Inventory of Depressive Symptomatology
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Atypical Presentation of Crohn’s Disease: Diagnostic Challenges in a Clinical Case 认领 引用
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作者 Catarina Pinto Silva Rita Sevivas +5 位作者 Flávia Ramos Dany Cruz Cristina Marques Beatriz Rosa Márcia Ribeiro Carlos S. Oliveira 《Case Reports in Clinical Medicine》 2025年第1期10-14,共5页
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
关键词 Crohn’s Disease Atypical Presentation Diagnostic Challenges Inflammatory Markers Infliximab Imaging
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Atypical presentation of pediatric acute hepatitis A: Is the situation alarming? 认领 引用
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作者 Rubaiyat Alam 《World Journal of Virology》 2025年第4期67-74,共8页
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
关键词 Acute hepatitis A Acute viral hepatitis Atypical manifestation Children Prolonged cholestasis
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Current concepts in the management of bisphosphonate associated atypical femoral fractures 认领 引用 被引量：4
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作者 Branavan Rudran Jonathan Super +4 位作者 Rajan Jandoo Victor Babu Soosai Nathan Edward Ibrahim Anatole Vilhelm Wiik 《World Journal of Orthopedics》 2021年第9期660-671,共12页
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
关键词 Bisphosphonates Atypical fracture Surgical fixation Atypical femoral fracture Osteoporosis
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Safety and related factors of treatment with long-term atypical antipsychotic in Chinese patients with schizophrenia:observational study 认领 引用 被引量：10
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作者 Wenjuan Yu Jingjing Huang +3 位作者 Sidi He Lei Zhang Yifeng Shen Huafang Li 《General Psychiatry》 CSCD 2021年第1期37-43,共7页
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 prolactinhyroxine 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
关键词 patients atypical treatment
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TNF-α,IL-6 and hs CRP in patients with melancholic,atypical and anxious depression:an antibodyyarrayanalysis related to somatic symptoms 认领 引用 被引量：8
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作者 Hongmei Liu Xiaohui Wu +13 位作者 Yun Wang Xiaohua Liu Daihui Peng Yan Wu Jun Chen Yun-Ai Su Jia Xu Xiancang Ma Yi Li Jianfei Shi Xiaodong Yang Han Rong Marta Di Forti Yiru Fang 《General Psychiatry》 CSCD 2022年第5期354-365,共12页
Background The association between inflammation and major depressive disorder(MDD)remains poorly understood,given the heterogeneity of patients with MDD.Aims We investigated inflammatory markers,such as interleukin(IL... Background The association between inflammation and major depressive disorder(MDD)remains poorly understood,given the heterogeneity of patients with MDD.Aims We investigated inflammatory markers,such as interleukin(IL)-6,high-sensitivity C reactive protein(hsCRP)and tumour necrosis factor-α.(TNF-α)in melancholic,atypical and anxious depression and explored whether baseline inflammatory protein levels could indicate prognosis.Methods The sample consisted of participants(aged 18-55 years)from a previously reported multicentre randomised controlled trial with a parallel-group design registered with ClinicalTrials.gov,including melancholic(n=44),atypical(n=37)and anxious(n=44)patients with depression and healthy controls(HCs)(n=33).Subtypes of MDD were classified according to the 30-item Inventory of Depressive Symptomatology,Self-Rated Version and the.17-item Hamilton Depression Rating Scale.Blood levels.of TNF-α,IL-6 and hsCRP were assessed using antibody array analysis.Results Patients with MDD,classified according to melancholic,atypical and anxious depression subtypes,and HCs did not differ significantly in baseline TNF-α,IL-6 and hsCRP levels after adjustment.In patients with anxious depression,hsCRP levels increased significantly if they experienced no pain(adjusted(adj.)p=0.010)or mild to moderate pain(adj.p=0.038)compared with those with severe pain.However,the patients with anxious depression and severe pain showed a lower trend in hsCRP levels than patients with atypical depression who experienced severe pain(p=0.022;adj.p=0.155).Baseline TNF-α(adj.p=0.038)and IL-6(adj.p=0.006)levels in patients in remission were significantly lower than those in patients with no remission among the participants with the atypical depression subtype at the eighth-week follow-up.Conclusions This study provides evidence of differences in inflammatory proteins in patients with varied symptoms among melancholic,atypical and anxious depression subtypes.Further studies on the immunoinflammatory mechanism underlying different subtypes of depression are expected for improved individualised therapy. 展开更多
关键词 patients atypical Blood
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Changes of Serum Insulin-like Growth Factor-2 Response to Negative Symptom Improvements in Schizophrenia Patients Treated with Atypical Antipsychotics 认领 引用 被引量：5
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作者 Xue-lin CHAO Shu-zhen JIANG +4 位作者 Jian-wen XIONG Jin-qiong ZHAN Bo WEI Chun-nuan CHEN Yuan-jian YANG 《Current Medical Science》 SCIE CAS 2020年第3期563-569,共7页
Accumulating evidence suggests that a disruption of early brain development,in which insulin-like growth factor-2(IGF-2)has a crucial role,may underlie the pathophysiology of schizophrenia.Our previous study has shown... Accumulating evidence suggests that a disruption of early brain development,in which insulin-like growth factor-2(IGF-2)has a crucial role,may underlie the pathophysiology of schizophrenia.Our previous study has shown that decreased serum IGF-2 was correlated with the severity of psychopathology in patients with schizophrenia.Here we conducted a prospective observation trial to investigate the effects of atypical antipsychotics on serum IGF-2 level and its relationship with clinical improvements in schizophrenia patients.Thirty-one schizophrenia patients with acute exacerbation and 30 healthy individuals were recruited in this study.Psychiatric symptoms were assessed using the Positive and Negative Syndrome Scale(PANSS)and serum IGF-2 levels were determined using ELISA.We found that schizophrenia patients with acute exacerbation had lower serum IGF-2 levels than control individuals at baseline(P<0.05).After 2 months of atypical antipsychotic treatment,a significant improvement in each PANSS subscore and total score was observed in patients(all P<0.01),and the serum IGF-2 levels of patients were significantly increased compared with those at baseline(203.13±64.62 vs.426.99±124.26 ng/mL;t=−5.044,P<0.001).Correlation analysis revealed that the changes of serum IGF-2 levels in patients were significantly correlated with the improvements of negative symptoms(r=−0.522,P=0.006).Collectively,our findings demonstrated changes of serum IGF-2 response to improvements of negative symptoms in schizophrenia patients treated with atypical antipsychotics,suggesting that serum IGF-2 might be a treatment biomarker for schizophrenia. 展开更多
关键词 schizophrenia atypical antipsychotic insulin-like growth factor-2 negative symptoms
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Chinese family with atypical granular corneal dystrophy type I caused by the typical R555W mutation in TGFBI 认领 引用 被引量：4
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作者 Su-Juan Zhao Ya-Nan Zhu +1 位作者 Xing-Chao Shentu Qi Miao 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2013年第4期458-462,共5页
·AIM: To investigate the clinical features and genetic defects in four generations of a Chinese family affected with atypical granular corneal dystrophy type I (GCD type I). · METHODS: Family history and cli... ·AIM: To investigate the clinical features and genetic defects in four generations of a Chinese family affected with atypical granular corneal dystrophy type I (GCD type I). · METHODS: Family history and clinical data were recorded. Genomic DNA samples were obtained from peripheral blood leukocytes of all participated. Exons of the transforming growth factor-β-induced (TGFBI) gene were directly sequenced after being amplified by polymerase chain reaction (PCR), and multi-point linkage analysis using microsatellite makers flanking the gene was applied to identify the disease-causing mutation. · RESULTS: Clinical features were quite variable in patients, some patients only had opacities in the epithelium, and others revealed multiple bilateral circular, discrete, crumb -like opacities mainly in the epithelium, with several in different depths of corneal stroma, and the performance was different bilaterally, even in the same patient. Directly nucleotide sequencing revealed a heterozygous p.R555W mutation in the coding sequence of the TGFBI gene in all affected individuals of the family, but was not found in all unaffected. The maximum logarithm of odds (LOD) score obtained by multi -point analysis was detected at marker locus D5S393 (LOD = 2.740; α=1.000). ·CONCLUSION: Our case presented with clinical futures and the pathogenic mutations in TGFBI gene, the phenotype of the pedigree was quite different from typical GCD type I, so we suggested that this phenotype was a variant of GCD type I. These findings expand the knowledge about GCD type I, and demonstrate that molecular genetic analysis is important to make an accurate diagnosis of patients with variable corneal dystrophies in clinic. 展开更多
关键词 atypical granular corneal dystrophy TGFBI gene mutation
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Mammary-type myofibroblastoma with infarction and atypical mitosis-a potential diagnostic pitfall:A case report 认领 引用 被引量：3
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作者 Yuan-Feng Zeng Yan-Zhi Dai Min Chen 《World Journal of Clinical Cases》 SCIE 2022年第16期5343-5351,共9页
BACKGROUND Mammary-type myofibroblastoma(MTMF)is a rare benign extramammary soft tissue tumor with myofibroblastic differentiation.Although 160 cases of MTMF have been reported in the literature since 2001,no cases of... BACKGROUND Mammary-type myofibroblastoma(MTMF)is a rare benign extramammary soft tissue tumor with myofibroblastic differentiation.Although 160 cases of MTMF have been reported in the literature since 2001,no cases of infarction or atypical mitosis have been reported so far.Herein,we report an unusual case of MTMF in the pelvic cavity,which mimicked some malignant features,including infarction,atypical mitosis,infiltrative growth,and prominent cytologic atypia,making it difficult to ascertain whether the tumor was benign.CASE SUMMARY A 49-year-old man complained of pain and discomfort in the right buttock for more than 4 mo and did not receive any treatment.Nuclear magnetic resonance imaging(MRI)showed a 13-cm-sized mass in his right pelvic cavity.Histologically significant differences were atypical mitosis figures and multiple necrotic foci in the tumor.In addition,smooth muscle and skeletal muscle were invaded within and at the edge of the tumor.These morphologic features are often reminiscent of malignant tumors and therefore pose a diagnostic challenge to pathologists.The tumor cells were strongly positive for both cluster of differentiation 34 and desmin,and the loss of retinoblastoma 1 shown by immunohistochemical and fluorescence in situ hybridization results confirmed the pathological diagnosis of MTMF.Currently,the patient is alive and in good condition without tumor recurrence or metastasis after 2.5 years of follow-up by telephone and MRI.CONCLUSION The two pseudo-malignant characteristics of infarction and atypical mitosis broaden the morphological lineage of MTMF,a rare mesenchymal tumor. 展开更多
关键词 Mammary-type myofibroblastoma Infarction Atypical mitosis Infiltrative growth Cytologic atypia Case report
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