检索结果-南通市图书馆

Siblings with Autism, Mental Retardation, and Convulsions in Tuberous Sclerosis: A Case Report

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

World Journal of Neuroscience 2016年第3期6卷 220-226页

作者： Farihan Farouk Helmy Adnan Amin Alsulaimani Amal Abdulrahman Hunjur Shahad Sati Alheraiti pediatric Department College of Medicine Taif University Taif Saudi Arabia College of Medicine Taif University Taif Saudi Arabia

A 3-year-old female patient born of consanguineous parents presented to the (development and behavioral clinic) in Taif children hospital, Western Saudai Arabia, her mother complained that her daughter had speech delay, no eye to eye contact, and was performing stereotyped behaviors (hand flapping). The girl developed convulsions at the age of 3 months and was on anticonvulsant medication since that age;her convulsions were controlled on anti-epileptic treatment. Family history revealed that the girl had a 6-year-old male sibling who developed convulsions at the age of 4 months and is on antiepileptic medications;the boy suffered also from speech delay, absent social interaction, and repetitive behaviors. On examination the girl had characteristic features of angio-fibromas, hypo-pigmented macules on the trunk and legs, and moreover the boy had similar skin features plus hypo-pigmented tufts of hair. Both cases were diagnosed as Autistic spectrum disorder, tuberous sclerosis, and mental retardation. The family needed genetic counseling, while both cases needed as soon as possible behavioral and educational strategies.

关键词： Autism Menatl Retardation Tuberous Sclerosis Children

Liver cirrhosis in a child associated with Castleman's disease: A case report

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

World Journal of clinical Cases 2020年第9期8卷 1656-1665页

作者： Soya Kobayashi Ayano Inui Tomoyuki Tsunoda Syuichiro Umetsu Tsuyoshi Sogo Masaaki Mori Masato Shinkai Tomoo Fujisawa Department of pediatric Hepatology and Gastroenterology Saiseikai Yokohama City Tobu HospitalYokohama 230-8765Japan Department of Lifetime clinical Immunology Graduate School of Medical and Dental SciencesTokyo Medical and Dental UniversityTokyo 113-8519Japan Department of Surgery Kanagawa Children’s Medical CenterYokohama 232-8555Japan

BACKGROUND Castleman's disease(CD)is a lymphoproliferative *** syndrome is classified as a variant of CD based on its key clinical manifestations of thrombocytopenia,anasarca(generalized edema and pleural effusion),fever(pyrexia),reticulin fibrosis in the bone marrow and the proliferation of megakaryocytes,and organomegaly(such as hepatosplenomegaly and multiple lymphadenopathies);TAFRO syndrome is mainly reported in Japanese *** our knowledge,this is the first pediatric case report detailing a CD-associated disorder progressing to *** SUMMARY A 10-year old male patient presented with fever and *** months before hospitalization,he had remarkable abdominal ***,he visited a clinic for a fever that lasted 5 *** physical findings were marked hepatosplenomegaly and cervical lymphadenopathy.A blood test revealed leukocytosis,microcytic anemia,aspartate aminotransferase-dominant transaminase elevation,high levels of C-reactive protein,polyclonal hypergammaglobulinemia,and high levels of interleukin-6 and vascular endothelial growth *** contrast computed tomography and magnetic resonance imaging suggested cirrhosis,which was confirmed by liver *** findings in the enlarged hepatic lymph nodes revealed both hyperplasia and atrophy of lymphoid follicles with some vascular hyperplasia and moderate plasmacytosis between the lymphoid follicles,which is compatible with lymph node histology in TAFRO *** was not effective in reducing the patient’s symptoms;therefore,the patient was prescribed *** date,the patient remains free of fever and continues to receive *** We described the clinicopathological features of TAFRO syndrome to highlight the clinical presentation of this rare disease in a pediatric case.

关键词： Castleman disease Case report Multi-centric Castleman’s disease Liver cirrhosis Tocilizumab Child

Endoscopic balloon dilation for management of stricturing Crohn’s disease in children

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

World Journal of Gastrointestinal Endoscopy 2021年第9期13卷 382-390页

作者： Brianna McSorley Robert A Cina Candi Jump Johanna Palmadottir J Antonio Quiros Department of pediatrics Medical University of South CarolinaCharlestonSC 29425United States Department of Surgery Medical University of South CarolinaCharlestonSC 29425United States Department of pediatric Gastroenterology Medical University of South CarolinaCharlestonSC 29425United States Department of pediatric Gastroenterology MUSC Children's HospitalCharlestonSC 29425United States Department of pediatric Gastroenterology and Nutrition Mount Sinai Kravis Children's HospitalNew YorkNY 10029United States

BACKGROUND Crohn’s disease(CD)has a multitude of complications including intestinal strictures from fibrostenotic *** disease has been reported in 10%-17%of children at presentation and leads to surgery in 20%-50%of cases within ten years of *** symptoms develop from these strictures,the treatment in children has primarily been surgical *** balloon dilation(EBD)has been shown to be a safe and efficacious alternative to surgery in adults,but evidence is poor in the literature regarding its safety and efficacy in *** To evaluate the outcomes of children with fibrostenosing CD who underwent EBD vs surgery as a *** In a single-center retrospective study,we looked at pediatric patients(ages 0-18)who carry the diagnosis of CD,who were diagnosed after opening a dedicated Inflammatory Bowel Disease clinic on July 1,2012 through May 1,*** used diagnostic codes through our electronic medical record to identify patients with CD with a stricturing *** type of intervention for patients’strictures was then identified through procedural and surgical billing *** evaluated their demographics,clinical variables,whether they underwent EBD vs surgery or both,and their clinical *** Of the 139 patients with CD,25(18%)developed *** initial intervention for a stricture was surgical resection in 12 patients(48%)and EBD in 13 patients(52%).However,4(33%)patients whom initially had surgical resection required follow up EBD,and thus 17 total patients(68%)underwent EBD at some point in their treatment *** those 8 patients who underwent successful surgical resection alone,4 of these patients(50%)had a fistula present near the stricture site and 4(50%)had strictures greater than 5 cm in *** patients who underwent EBD had no procedural complications,such as a ***-two(88%)of the treated strictures were successfully managed by EBD and did not require any furth

关键词： Crohn’s disease Intestinal strictures Endoscopic dilation pediatrics Endoscopic balloon dilation

Evaluating the management of anaphylaxis in US emergency departments:Guidelines ***

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

World Journal of Emergency Medicine 2013年第2期4卷 98-106页

作者： W.Scott Russell Judith Rosen Farrar Richard Nowak Daniel P.Hays Natalie Schmitz Joseph Wood Judi Miller pediatric Emergency Department Medical University of South CarolinaCharlestonSC 29425USA Life Sciences Press CanandaiguaNYUSA Department of Emergency Medicine Henry Ford Health SystemDetroitMIUSA University of Arizona Medical Center TucsonAZUSA DeKalb Medical Center AtlantaGAUSA Mayo clinic Arizona ScottsdaleAZUSA SRxA WashingtonDCUSA

BACKGROUND:Anaphylaxis is characterized by acute episodes of potentially life-threatening symptoms that are often treated in the emergency *** guidelines recommend:1) quick diagnosis using standard criteria;2) first-line treatment with epinephrine;and 3) discharge with a prescription for an epinephrine auto-injector,written instructions regarding long-term management,and a referral(preferably,allergy) for ***,studies suggest low concordance with guideline recommendations by emergency medicine(EM) *** study aimed to evaluate how emergency departments(EDs) in the United States(US) manage anaphylaxis in relation to guideline ***:This was an online anonymous survey of a random sample of EM health providers in US ***:Data analysis included 207 EM *** respondent EDs,approximately 9%reported using agreed-upon clinical criteria to diagnose anaphylaxis;42%reported administering epinephrine in the ED for most anaphylaxis episodes;and clinician was ***:This is the first cross-sectional survey to provide "real-world" data showing that practice in US EDs is discordant with current guideline recommendations for the diagnosis,treatment,and follow-up of patients with *** primary gaps are low(or no) utilization of standard criteria for defining anaphylaxis and inconsistent use of *** research is recommended.

关键词： Anaphylaxis Guidelines Epinephrine(adrenaline) Allergic reaction Lifethreatening reaction Emergency department Epinephrine autoinjector Self-injectable epinephrine

Thyroid autoimmunity at the onset of type 1 diabetes mellitus in children

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Open Journal of Immunology 2013年第1期3卷 37-40页

作者： Siamak Shiva Farzad Ilkhchooyi Azim Rezamand pediatric Health Research Center Tabriz University of Medical Sciences Tabriz Iran Tabriz University of Medical Sciences Tabriz Iran

Introduction: Studies that have investigated autoimmune thyroid disease in newly diagnosed type 1 diabetic children are few and reported prevalence rate ranges between 4.5 - 29.4 percent. Considering the effect of age, ethnic origin, and disease duration on the prevalence of autoimmune thyroid disease in diabetic subjects, we decided to investigate the thyroid autoimmunity in newly diagnosed type 1 diabetic children in our area of residence (North-WestIran). Methods: This cross-sectional study was carried out between 2008 and 2010. All of the children with newly diagnosed type 1 diabetes mellitus (T1DM) presenting to the outpatient pediatric- endocrinology clinic of Tabriz University of Medical Sciences (the only university-affiliated clinic for pediatric-endocrinology in North-west Iran), were investigated for serum levels of anti- TPO, anti-Tg and TSH. Results: The study group included 99 children [mean age 7.75 ± 3.21 years (range 1.2 - 14), 45 boys (45.5%) and 54 girls (54.5%)]. About 9% of patients were seropositive for anti thyroid antibodies and females were affected more than males. The mean TSH level of subjects above 12 years of age (3.5 ± 2) was significantly (p = 0.037) higher than those below this age. Conclusion: Autoimmune thyroid disease and even hypothyroidism may accompany T1DM at its presenting time in children. This finding is more common in girls especially those above 12 years of age.

关键词： Newly Diagnosed Diabetes Autoimmune Thyroid Disease Children

非酒精性脂肪性肝病和非酒精性脂肪性肝炎的无创性诊断

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

胃肠病学 2011年第3期16卷 135-138页

作者： Leon A ADAMS Ariel E FELDSTEIN 张海燕钱本余马雄 School of Medicine and Pharmacology University of Western Australia Sir Charles Gairdner Hospital Unit Nedlands Western Australia Australia Department of Cell Biology and pediatric Gastroenterology Cleveland Clinic Cleveland Ohio USA

非酒精性脂肪性肝病(NAFLD)在美国和世界上许多其他地区都是最常见的慢性肝病,其患病率持续上升,目前美国约1/4的成人和10%的儿童患NAFLD。NAFLD包括多种疾病状态,从通常呈良性、非进展性临床过程的单纯性脂肪肝直至更为严重的、可进展... 详细信息

非酒精性脂肪性肝病(NAFLD)在美国和世界上许多其他地区都是最常见的慢性肝病,其患病率持续上升,目前美国约1/4的成人和10%的儿童患NAFLD。NAFLD包括多种疾病状态,从通常呈良性、非进展性临床过程的单纯性脂肪肝直至更为严重的、可进展为肝硬化和终末期肝病的非酒精性脂肪性肝炎(NASH)。目前,NASH的诊断依赖于创伤性肝活检,而肝活检存在取样和读片误差的缺陷。NASH的临床危险因素包括糖尿病和代谢综合征,但这些因素本身不足以预测NASH。常规肝酶水平预测可靠性低,新型血浆肝细胞死亡标记物单独或与临床危险因素联合今后可能成为无创性诊断工具。本文对无创性诊断工具在鉴别单纯性脂肪肝与NASH以及确定肝纤维化的存在及其范围中的作用作一概述。

关键词：生物学标记非酒精性脂肪性肝病非酒精性脂肪性肝炎无创性诊断

Histological evaluation in ulcerative colitis

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Gastroenterology Report 2014年第3期2卷 178-192页

作者： Tom C.DeRoche Shu-Yuan Xiao Xiuli Liu Department of Pathology Wake Forest Baptist Medical CenterWinston-SalemNorth CarolinaUSA Department of Pathology University of ChicagoChicagoIllinoisUSA Department of Anatomic Pathology Cleveland ClinicClevelandOhioUSA

This review summarizes diagnostic problems,challenges and advances in ulcerative colitis(UC).It emphasizes that,although histopathological examination plays a major role in the diagnosis and management of UC,it should always be interpreted in the context of clinical,endoscopic,and radiological *** diagnosis requires knowledge of the classic morphological features of UC,as well as a number of atypical pathological presentations that may cause mis-classification of the disease process,either in resection or biopsy *** atypical pathological presentations include rectal sparing and patchiness of disease at initial presentation of UC in pediatric patients or in the setting of medically treated UC,cecal or ascending colon inflammation in left-sided UC,and backwash ileitis in patients with severe ulcerative *** formed microgranulomas,with pale foamy histiocytes adjacent to a damaged crypt or eroded surface,should not be interpreted as evidence of Crohn’s *** colitis should only be used in colectomy specimens as a provisional pathological *** with UC are at risk for the development of dysplasia and carcinoma;optimal outcomes in UC surveillance programs require familiarity with the diagnostic criteria and challenges relating to UC-associated dysplasia and *** biopsy from UC patients should always be evaluated for dysplasia based on cytological and architectural *** interpretation and classification of dysplasia in colon biopsy from UC patients as sporadic adenoma or UC-related dysplasia[flat,adenoma-like,or dysplasia-associated lesion or mass(DALM)]requires clinical and endoscopic *** polypoid dysplastic lesions are considered to be sporadic adenoma if occurring outside areas of histologically proven colitis,or adenoma-like dysplasia if occurring in the diseased *** data suggest that such lesions may be treated adequately by polypectomy in the

关键词： ulcerative colitis histological evaluation dysplasia differential diagnosis

HLA-DQB1~* alleles and genetic susceptibility to type 1 diabetes mellitus

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

World Journal of Diabetes 2012年第8期3卷 149-155页

作者： Youssef M Mosaad Fatma A Auf Shereen S Metwally Ashraf A Elsharkawy Amany K El-Hawary Rasha H Hassan Ziyad E Tawhid Farha A El-Chennawi Unit of clinical Immunology Department of Clinical Pathology Mansoura Faculty of Medi-cine Mansoura 35111 Egypt Unit of pediatric Endocrinology and Diabetes Mansoura Faculty of Medicine Children’s Hospital Mansoura 35111 Egypt Unit of pediatric Infectious Disease and Mal-nutrition Mansoura Faculty of Medicine Children’s Hospital Mansoura 35111 Egypt

AIM: To determine human leukocyte antigen (HLA)-DQB1 allele association with susceptibility to type 1 diabetes (T1D) and to clinical and laboratory findings. METHODS: This study was conducted on 85 unrelated Egyptian children with T1D recruited consecutively from the pediatric Diabetes Endocrinology outpatients clinic; Mansoura University Children’s Hospital, Egypt. Patient mean follow up period was 2.5 years. Patients were subdivided according to level of HbA1c (optimal/suboptimal control < 8.5% and poor control ≥ 8.5%). The control group consisted of 113 unrelated age- and sex-matched healthy subjects without T1D or other autoimmune diseases. Genomic DNA extraction was done for all subjects using a DNA isolation kit. HLA-Class II-DQB1 allele typing was carried out with a polymerase chain reaction-sequence-specific oligonucleotide probe using a INNO-LiPA HLA-DQB1 update kit. RESULTS: Significant differences were detected between Egyptian patients with T1D and control groups in the frequencies of DQB1*02 [44.4% vs 18.6%, corrected P value (Pc) < 0.001] and DQB1*03 (41.2% vs 24.4%, Pc < 0.001). Significant differences were also observed between control groups and T1D patients in the frequencies of DQB1*05 (14.6% vs 7.2%, P = 0.029) and DQB1*06 (34.1% vs 7.2%, P < 0.001). However, after correction for multiple comparisons, the significance was retained for HLA-DQB1*06 (Pc < 0.001) but lost for HLA-DQB1*05. HLA-DQB1*0201, *0202, *030201 were positively associated with T1D (Pc = 0.014, Pc < 0.001, and Pc < 0.001 respectively), while HLA-DQB1*060101 was negatively associated (Pc < 0.001) with the condition. Although the HLA-DQB1 alleles 030101 and 050101 were significantly higher in controls (P = 0.016, P = 0.025 respectively), both of them lost statistical significance after correction of P value. The frequency of the HLA-DQB1 genotypes 02/02, 02/03, and 03/03 was higher in T1D patients, and the frequency of the genotypes 03/06, 05/06, and 06/06 was higher in controls,

关键词： HLA-DQB1 Type 1 diabetes Egyptian Genetic susceptibility Children, Complication

Melnick Needles Syndrome: Computed Imaging and Management Difficulties

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Open Journal of Radiology 2023年第3期13卷 146-154页

作者： Soré Moussa Zanga Dominique Bicaba Kisito Nagalo Sounkalo Guibou Konané Aïscha Madina Napon Zakari Nikiéma Ousséini Diallo Léonie Claudine Sorgho/Lougué Rabiou Cissé Radiology Department Charles de Gaulle Pediatric Teaching Hospital Ouagadougou Burkina Faso Radiology Department Souro Sanou Teaching Hospital Bobo Dioulasso Burkina Faso Neonatology Department Charles De Gaulle Pediatric Teaching Hospital Ouagadougou Burkina Faso Radiology Department Yalgado Ouedraogo Teaching Hospital Ouagadougou Burkina Faso

Melnick-Needles syndrome is an osteo-dysplasia caused by a mutation of a gene, FLNA, coding for filamine A. It is at the origin of a set of complex congenital malformations, mainly of interest to the members, but also to the cranio-facial region. Melnick-Needles syndrome was first described in 1966 by two Americans John Melnick, a radiologist, and Carl F Needles, a pediatrician. They described cases of families of several generations who had a characteristic severe congenital bone disorder. They thought that human-to-human transmission had occurred in one case. We report a case of Melnick-Needles syndrome which is a pathology with very high mortality especially in a male subject. This was an observational study of a case received in consultation with the pediatric service of the Souro Sanou University Hospital Center in Bobo Dioulasso in Burkina Faso. It was a 3-year-old boy born in a low-term pregnancy without any prenatal consultation, imaging test and prenatal biology performed. The exact pathogenesis of this condition is not established but is linked to a mutation of the Filamine A gene linked to sexual chromosomes X. Pathology is rare, around a hundred cases have been reported worldwide. Its incidence, according to the literature is around 1/100,000. The sex ratio is at 7. The malformations of this acquired embryo-fetopathy are multiple, polymorphic and asymmetrical. The diagnosis of this pathology is suspected by the clinic and established by molecular biology by sequencing the genes responsible for the mutation. However, imagery, in particular the scanner has a major role by its protocol with multi-planar reconstructions and its analysis in double windowing which allow a better description of the malformations of this syndrome. Its management is complex, and multidisciplinary, and the unfortunate prognosis in our context is because of the precarious technical platform. In our case despite the obvious malformations presented by the patient, the parents consult

关键词： Melnick-Needles Syndrome Polymaformation TDM Burkina Faso