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Cai C.,Tianjin Childrens Hospital | Cai C.,Tianjin Medical University | Shi O.,Tianjin Medical University | Li W.-D.,Tianjin Medical University
Parkinsonism and Related Disorders | Year: 2013

Paroxysmal kinesigenic dyskinesia is an autosomal dominant dystonia induced by sudden voluntary movements. Recently, proline-rich transmembrane protein 2 (PRRT2) gene mutations, especially frameshift mutations, were described for PKD. In our study, we have collected a three-generation paroxysmal kinesigenic dyskinesia-infantile convulsions pedigree in Tianjin, North China. The symptoms of six patients varied; age of onset decreased in each generation. Mutations in the PRRT2 gene in nine PKD family members were screened by PCR sequencing of genomic DNA samples. Missense mutations of the PRRT2 gene were found in all four PKD patients and two children with infantile convulsions. All six individuals carried heterozygous codon 138 (Pro/Ala) and codon 306 (Ala/Asp) mutations. Missense mutations of the PRRT2 gene other than truncate and frameshift mutations were account for PKD and/or infantile convulsions. Age of onset and symptoms were not necessarily associated with PRRT2 mutations. © 2012 Elsevier Ltd. Source


Cai C.,Tianjin Childrens Hospital | Shi O.,Tianjin Medical University
Frontiers of Medicine in China | Year: 2014

Neural tube defects (NTDs) are a group of birth anomalies having a profound physical, emotional, and financial effects on families and communities. Their etiology is complex, involving environmental and genetic factors that interact to modulate the incidence and severity of the developing phenotype. The planar cell polarity (PCP) pathway controls the process of convergent extension (CE) during gastrulation and neural tube closure and has been implicated in the pathogenesis of NTDs in animal models and human cohorts. This review summarizes the cumulative results of recent studies on PCP signaling pathway and human NTDs. These results demonstrate that PCP gene alterations contribute to the etiology of human NTDs. © 2014 Higher Education Press and Springer-Verlag Berlin Heidelberg. Source


Chen Y.,Tianjin Medical University | Zhan J.,Tianjin Childrens Hospital
Journal of Pediatric Surgery Case Reports | Year: 2016

A case of monozygotic twins, one of whom suffered from biliary atresia and the other one was apparently healthy, is described herein. Children with biliary atresia appear to be vulnerable to developmental lags in the physical and cognitive performance, due to malnutrition and deteriorated liver function. In our case where the child with biliary atresia, who underwent a successful kasai operation, has achieved comparable growth development and cognitive performance in comparision with her sister, which suggest that the early diagnosis and timly kasai operation could allow children with biliary artesia to grow well in the short-term following time. © 2016 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND. Source


Li C.W.,Tianjin Childrens Hospital
Zhonghua er ke za zhi. Chinese journal of pediatrics | Year: 2010

To study the clinical features of Reiter's syndrome (RS) in children. Twenty-two patients with RS were referred to our department between August 2002 and September 2008. Their clinical features were analyzed retrospectively. Of the 22 patients, 19 were male, only 3 were female. Age ranged from 4 to 14 years, and the average was 10.7 years, most patients (20/22) were older than eight. Among their relatives, 2 had ankylosing spondylitis, 4 had undifferentiated spondyloarthropathy or presented with a history of inflammatory low back pain, and 2 had psoriasis. The season of onset of all patients was summer months from June to September every year. Ten had a history of diarrhea within 1 month preceding the symptoms of arthritis. Twenty-one had fever at the onset. Conjunctivitis occurred in 20 patients, only one was complicated with uveitis. Urethral symptoms occurred in 12 patients, and another 3 patients had abnormal results of urine analysis only. Synovitis occurred in all cases, most of whom had oligoarthritis, predominantly affecting large joints of the lower limbs in an asymmetric pattern with enthesitis occurred in 9. Balanitis circinata was common in male patients (10/19). Elevated inflammatory indicators such as white blood cell, neutrophil, platelet, erythrocyte sedimentation rate, C-reactive protein, immunoglobulins and serum complement C3 were common during the acute illness. All of the 22 cases were negative for rheumatoid factor and 16 (72.7%) were HLA-B27 positive. Nonsteroidal anti-inflammatory drugs and sulfasalazine were the mainstay of treatment. Cyclophosphamide was used in 14 patients (total doses 0.6 - 2.0 g), in 4 cases methotrexate was added. Corticosteroids were added in 4 patients and cyclosporine was given to the patient complicated with uveitis. Most patients achieved full remission within 6 months. RS is common in children with clinical features different from those in adults and a relatively good prognosis. Source


Dang C.-J.,Tangshan Municipal Workers Hospital | Li Y.-J.,Tianjin Medical University | Zhan F.-H.,Tianjin Childrens Hospital | Shang X.-M.,Tangshan Municipal Workers Hospital
Clinical Nuclear Medicine | Year: 2012

Pulmonary mucormycosis is a life-threatening opportunistic mycosis that is difficult to diagnose early. We report the case of a 56-year-old woman who complained of intermittent fever in the afternoon and productive cough and pain on the right side of the chest. Her clinical condition deteriorated despite antibiotherapy. FDG PET/CT showed a heterogeneous soft tissue mass at the lower part of the right lung with obvious FDG uptake in the peripheral part of the mass. Mucormycosis was proven by histopathology and fungal culture from the transbronchial lung biopsy materials. © 2012 Lippincott Williams & Wilkins, Inc. Source

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