hrp0095p2-80 | Diabetes and Insulin | ESPE2022

A MODY2 pedigree with GCK gene mutation and literatures review

Huang Siqi , Hou Lele , Meng Zhe , Liang Liyang

Objective: To report a family with MODY2 associated with GCK gene mutation and improve clinicians' understanding of this gene mutation.Methods: The clinical manifestations, laboratory examinations and genetic test results of a MODY2 family diagnosed and treated in our hospital were analyzed retrospectively, and the related literatures were reviewed.Results: The patient is a 6-...

hrp0095p2-108 | Fat, Metabolism and Obesity | ESPE2022

A Noval De Novo PHIP Variant Contributing to Chung-Jansen Syndrome: a case report and review

Huang Feiyan , Liang Liyang , Hou Lele , Zhang Lina , Meng Zhe

Objectives: To present Chung-Jansen Syndrome or CHUJANS by a de novo variant in the pleckstrin homology domain-interacting protein (PHIP) gene and compare the clinical phenotype with previous case reports; ②To provide a novel genetic detection methods with whole-exome sequencing(WES) and whole genome sequencing(WGS) and Sanger sequencing for rare genetic diseases.Patients and methods: Following collecting clinical...

hrp0095p2-174 | Growth and Syndromes | ESPE2022

Lysine urinary protein intolerance with lupus kidney, lupus brain and extremely short stature: a case report and literatures review

Huang Siqi , Hou Lele , Meng Zhe , Liang Liyang

Objective: To report the clinical and gene mutation characteristics of a patient with lysine urinary protein intolerance (LPI) characterized by lupus nephritis, lupus encephalitis and extreme short stature, so as to improve understanding of the clinical characteristics of LPI caused by SLC7A7 gene mutation.Methods: The clinical manifestation, laboratory examination and gene test results of a child with LPI diagnosed and ...

hrp0089p1-p062 | Diabetes & Insulin P1 | ESPE2018

Establishment of Iron Overload Insulin Cell Model and the Effect Induced by Iron Overload on Oxidative Stress

Zhang Lina , Liang Liyang , Meng Zhe , Hou Lele , Liu Zulin

Objective: To establish INS-1 cell iron overload model, and study the effect on proliferation, insulin-secretion and oxidative stress change.Methods: INS-1 cells were cultured in either normal or high glucose medium. Both groups were treated with different concentrations of (5, 10, 20, 40, 80 μmol/l respectively) of ferric ammonium citrate (FAC). Number and state of the cells were detected by trypan blue staining. Labile iron pool (LIP) were calcula...

hrp0086p1-p230 | Diabetes P1 | ESPE2016

Growth and Glucose Metabolism after Allogenic Bone Marrow Transplantation for Thalassemia Major

Lao Wenqin , Liang Liyang , Meng Zhe , Ou Hui , Hou Lele

Background: Growth failure and abnormal plasma glucose level are common in patients with thalassemia major (TM), which are usually due to iron overload after repeated blood transfusion. Patients after successful bone marrow transplantation (BMT) will be free from further blood transfusion and thus spared from complications of iron overload. This study aimed at determining the incidence of abnormal glucose level in TM patients and studying the height difference between the TM p...

hrp0086p2-p797 | Pituitary and Neuroendocrinology P2 | ESPE2016

Report Two Cases of Dopa-Responsive Dystonia

Zhuannan Jiang , Liyang Liang , Zhe Meng , Lina Zhang , Lele Hou

Background: Dopa-responsive dystonia is a genetic disease that rarely reported in domestic and foreign. Its clinical characteristics is so complex and diverse that it is easy to lead to misdiagnosis and delayed treatment. However, early diagnosis and timely and appropriate treatment can completely improve symptoms. Fortunately, now we can take advantage of gene sequencing to diagnose this rare disease.Objective and hypotheses: Understand the research pro...

hrp0082p3-d2-642 | Adrenals & HP Axis (1) | ESPE2014

X-Linked Adrenoleukodystrophy in eight Patients

Meng Zhe , Liang Liyang , Zhang Lina , Hou LeLe , Liu Zulin

Background: Adrenoleukodystrophy (ALD) is a genetic disease associated with demyelination of the CNS, adrenal insufficiency, and accumulation of very long-chain fatty acids in tissue and body fluids.Objective: To research the clinical features, laboratory tests, imaging examinations and treatment on children who suffer from X-linked ALD. Also aim at revealing the correlation between the severity of disease and level of very long chain fatty acids (VLCFAs...

hrp0095p1-421 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Novel ACAN Variants in Eight Chinese Families with Short Stature and Literature Review

Deng Shuyun , Hou Lele , Xia Dan , Li Xiaojuan , Ouyang Nengtai , Liang Liyang

Context: ACAN gene is located at 15q26.1 and encodes aggrecan, which is a critical proteoglycan component of cartilage extracellular matrix. Heterozygous variants in ACAN are associated with short stature, premature growth cessation, and impaired bone maturation. A comprehensive understanding of the genetic and clinical characteristics of patients with ACAN mutations helps to improve the overall management of an individual.<p cla...

hrp0095p1-245 | Diabetes and Insulin | ESPE2022

Analysis of peripheral nerve conduction function and its influencing factors in children and adolescents with type 1 diabetes mellitus

Zhang Lina , Liang Liyang , Song Qingfang , Meng Zhe , Liu Zulin , Hou Lele , He Zhanwen , Huang Siqi

Objective: To explore the status and the main influencing factors of peripheral nerve conduction dysfunction in Chinese children and adolescents with type 1 diabetes mellitus (T1DM).Methods: Nerve electrophysiological indicators including amplitude, latency and conduction velocity of median nerve, ulnar nerve, superficial peroneal nerve, sural nerve, common peroneal nerve and tibial nerve were collected, and the results ...

hrp0095p1-124 | Growth and Syndromes | ESPE2022

Analysis of Clinical Features and Causative Genes in 48 Children with Short Stature of Unknown Etiology

Hou Lele , Lin Shaofen , Liu Zulin , Ou Hui , Zhang Lina , Huang Siqi , Meng Zhe , Liang Liyang

Objective: To analyze the clinical features and causative genes in children with undiagnosed short stature and study the causative genes in our hospital. Methods Clinical manifestations, laboratory test and whole exome sequencing (WES) results of children with undiagnosed short stature who visited pediatric endocrinology department of our hospital from January 2018 to August 2019 were analyzed retrospectively. Causative genes were classified and analyzed accor...