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Liver transplantation and the management of progressive familial intrahepatic cholestasis in children

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World Journal of Transplantation 2016年第2期6卷 278-290页

作者： Ashley Mehl Humberto Bohorquez Maria-Stella Serrano Gretchen Galliano Trevor W Reichman University of Queensland-Ochsner Clinical School of Medicine Multi-Organ Transplant Institute Ochsner Medical Center Section of Pediatric Gastroenterology Hepatologyand NutritionDepartment of PediatricsOchsner Medical Center Department of Pathology Ochsner Medical Center

Progressive familial intrahepatic cholestasis(PFIC) is a constellation of inherited disorders that result in the impairment of bile flow through the liver that predominantly affects children. The accumulation of bile results in progressive liver damage, and if left untreated leads to end stage liver disease and death. Patients often present with worsening jaundice and pruritis within the first few years of life. Many of these patients will progress to end stage liver disease and require liver transplantation. The role and timing of liver transplantation still remains debated especially in the management of PFIC1. In those patients who are appropriately selected, liver transplantation offers an excellent survival benefit. Appropriate timing and selection of patients for liver transplantation will be discussed, and the short and long term management of patients post liver transplantation will also be described.

关键词： Pediatric liver transplant Progressive familial intrahepatic cholestasis familial intrahepatic cholestasis protein 1 Cholestasis Multidrug resistance protein 3 Pediatric jaundice Bile salt excretion protein

Pleomorphic cutaneous xanthomas disclosing homozygous familial hypercholesterolemia

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World Journal of Dermatology 2017年第4期6卷 59-65页

作者： Antonio Mastrolorenzo Antonietta D'Errico Piera Pierotti Margherita Vannucchi Stefano Giannini Fiammetta Fossi Department of Surgery and Translational Medicine Section of Dermatology University of Florence Public Hospital Piero Palagi Azienda Sanitaria di Firenze Department of Infectious Diseases Ospedale SM Annunziata Histopathology and Molecular Diagnostics Institute Careggi University Hospital Diabetes and Metabolic Disease Agency Careggi University Hospital SODc of Transfusion Medicine and Cell Therapy Careggi University Hospital

Homoxygous familial Hypercholesterolemia is characterized by a presence of several types of cutaneous xanthomas with an abnormal lipid profile. Some of these could be pathognomonic. Although these could be initially interpreted as isolated and localized benign disorders and offered surgical treatment, it has become increasingly clear that they could be a part of a systemic pathology. Here we describe a case of this rare disorder in a 19 years old non-obese young man who presented multiple, intertriginous, tuberous and tendinous xanthomas and had an associated abnormal lipid profile with elevated lowdensity lipoprotein cholesterol levels. A detailed history with clinical assessment in the differential diagnosis and laboratory investigations led to a precise diagnosis.

关键词： Intertriginous xanthomas Homoxygous familial Hypercholesterolemia familial hypercholesterolemia Dyslipidemia Xanthomas

Comparison of clinical characteristics and survival on patients with idiopathic pulmonary arterial hypertension and familial pulmonary arterial hypertension during conventional therapy era and targeted therapy era

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China Medical Abstracts(Internal Medicine) 2014年第3期31卷 161-161页

作者：徐希奇 Throm-bosis & Vascular Med Center Fuwai Hosp & Nat Cardiovas Dis Center

Objective To compare the clinical characteristics and survival on Chinese patients with idiopathic pulmonary arterial hypertension(IPAH)and familiar pulmonary arterial hypertension(FPAH)during conventional therapy era and targeted therapy *** IPAH and FPAH patients who were referred between Jan 1999and Oct 2004 in Fuwai Hospital were defined as conventional therapy era group(before 2005 no PAH-specific drug was available in China).All patients in this

关键词： targeted familiar familial referred pulmo predominant enrolled median women

Genetic analysis of COL4A4 gene in familial hematuria

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China Medical Abstracts(Internal Medicine) 2021年第2期38卷 112-112页

作者：苏晴 Renal Div Peking Univ 1st HospBeijing 100034

Objective To define more information for familial hematuria by genetic screening in a pedigree with familial *** This was a 4 generation pedigree including 20 family *** clinical data andlaboratory manifestations of t... 详细信息

关键词： familial clinical analysis

Eviendep~ reduces number and size of duodenal polyps in familial adenomatous polyposis patients with ileal pouchanal anastomosis

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World Journal of Gastroenterology 2013年第34期19卷 5671-5677页

作者： Carlo Calabrese Chiara Praticò Andrea Calafiore Maurizio Coscia Lorenzo Gentilini Gilberto Poggioli Paolo Gionchetti Massimo Campieri Fernando Rizzello Dipartimento di Scienze Mediche e Chirurgiche (DIMEC) University of Bologna

AIM:To evaluate if 3 mo oral supplementation with Eviendep was able to reduce the number of duodenal polyps in familial adenomatous polyposis(FAP)patients with ileal pouch-anal anastomosis(IPAA).METHODS:Eleven FAP patients with IPAA and duodenal polyps were *** underwent upper gastrointestinal(GI)endoscopy at the baseline and after 3 mo of *** patient received 5 mg Eviendep twice a day,at breakfast and dinner time,for3 *** endoscopists evaluated in a blinded manner the number and size of duodenal *** GI endoscopies with biopsies were performed at the baseline(T0)with the assessment of the Spigelman ***>10 mm were removed during endoscopy and at the end of the procedure a new Spigelman score was determined(T1).The procedure was repeated 3 mo after the baseline(T2).Four photograms were examined for each patient,at T1 and *** examined area was divided into 3 segments:duodenal bulb,second and third portion *** specimens were taken from all polyps>10 mm and from all suspicious ones,defined by the presence of a central depression,irregular surface,or irregular vascular *** was classified according to the updated Vienna ***:At baseline the mean number of duodenal detected polyps was 27.7 and mean sizes were 15.8mm;the mean Spigelman score was *** polypectomy the mean number of duodenal detected polyps was 25.7 and mean sizes were 7.6 mm;the mean Spigelman score was *** 3 mo of Eviendep bid,all patients showed a reduction of number and size of duodenal *** mean number of duodenal polyps was 8(P=0.021)and mean size was 4.4 mm;the mean Spigelman score was *** agreement was ***>1 cm found a very good degree of concordance(kappa 0.851)and a good concordance was as well encountered for smaller lesions(kappa 0.641).CONCLUSION:Our study demonstrated that shortterm(90 d)supplementation with Eviendep in FAP patients with IPAA and with recurrent adenomas in t

关键词： familial adenomatous polyposis Ileal pouch-anal anastomosis Duodenal polyps Eviendep

Clinical and biological features of familial nonmedullary thyroid carcinoma

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China Medical Abstracts(Internal Medicine) 2014年第2期31卷 87-87页

作者：高健 Dept Thyroid & Neck Tumors Tianjing Med Univ

Objective To analyze the clinical and biological features of familial nonmedullary thyroid carcinoma(FNMTC).Methods Clinical data of 66 FNMTC cases of 32pedigrees was retrospectively analyzed,compared with that of 182... 详细信息

关键词： thyroid familial papillary sporadic bilateral recurrence aggressive metastasis offspring grees

Chemically oligomerizable TDP-43:a novel chemogenetic tool for studying the pathophysiology of amyotrophic lateral sclerosis

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Neural Regeneration Research 2022年第11期17卷 2434-2436页

作者： Kohsuke Kanekura Yoshiaki Yamanaka Tamami Miyagi Masahiko Kuroda Department of Molecular Pathology Tokyo Medical University

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by the progressive loss of both upper and lower motor *** ALS cases are sporadic,but approximately 5-10%of patients have a f... 详细信息

关键词： sclerosis familial

Identification of 1q21.1 microduplication in a family:A case report

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World Journal of Clinical Cases 2023年第4期11卷 874-882页

作者： Ting-Ting Huang Hai-Feng Xu Shang-Yu Wang Wen-Xin Lin Yie-Hen Tung Kaleem Ullah Khan Hui-HuiZhang Hu Guo Guo Zheng Gang Zhang Department of Neurology Children’s Hospital of Nanjing Medical UniversityNanjing 210000Jiangsu ProvinceChina Nanjing Medical University Nanjing 210000Jiangsu ProvinceChina Nanjing Xiaozhuang University Experimental Primary School Nanjing 210000Jiangsu ProvinceChina

BACKGROUND Copy number variation(CNV)has become widely recognized in recent years due to the extensive use of gene screening in developmental disorders and epilepsy research.1q21.1 microduplication syndrome is a rare CNV disease that can manifest as multiple congenital developmental disorders,autism spectrum disorders,congenital malformations,and congenital heart defects with genetic *** SUMMARY We reported a pediatric patient with 1q21.1 microduplication syndrome,and carried out a literature review to determine the correlation between 1q21.1microduplication and its *** summarized the patient’s medical history and clinical symptoms,and extracted genomic DNA from the patient,her parents,elder brother,and *** patient was an 8-mo-old girl who was hospitalized for recurrent convulsions over a 2-mo *** exon sequencing and whole genome low-depth sequencing(CNV-seq)were then *** exon sequencing detected a 1.58-Mb duplication in the CHR1:145883867-147465312 region,which was located in the 1q21.1 *** analysis showed that the pathogenetic duplication fragment,which was also detected in her elder brother’s DNA originated from the *** Whole exon sequencing combined with quantitative polymerase chain reaction can provide an accurate molecular diagnosis in children with 1q21.1 microduplication syndrome,which is of great significance for genetic counseling and early intervention.

关键词： 1q21.1 microduplication syndrome Epilepsy Copy number variation familial Whole exon sequencing Congenital developmental disorders Case report

Microsatellite instability,MMR gene expression and proliferation kinetics in colorectal cancer with famillial predisposition

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World Journal of Gastroenterology 2000年第6期6卷 902-905页

作者： Bao Ping Wu Ya Li Zhang Dian Yuan Zhou Chun Fang Gao Zhuo Sheng Lai Institute for Digestive Medicine Nanfang HospitalGuangzhou 510515Guangdong ProvinceChina Department of Surgery of Colon and Rectum 150 Central HospitalLuoyang 471031Henan ProvinceChina

INTRODUCTIONGenetic instability is a conunon property of manyhuman cancers,including those of HNPCC.A novel form of genetic instability involving somaticalterations,such as deletions and insertions insimple repeated s... 详细信息

关键词： colorectal neoplasms microsatellite instability gene expression familial predisposition proliferation kinetics immunohistochemistry polymerase chain reaction flow cytometry