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-p271 | Diabetes P2 | ESPE2016

Abnormal Glucose Level in Patients with Thalassemia Major

Lao Wenqin , Liang Liyang , Ou Hui , Meng Zhe , Zhang Lina

Background: Abnormalities in glucose homeostasis are fairly common complications in thalassemia major (TM) patients. This study aimed at determining the incidence of diabetes mellitus (DM) and studying the potential factors responsible for secondary DM of TM patients.Objective and hypotheses: A total of 54 (33 male) transfusion-dependent TM patients were in the ‘TM group ’; 25 age- and gender-matched healthy children were recruited as the &#145...

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...

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 ...

hrp0092p1-183 | Diabetes and Insulin (1) | ESPE2019

Study on the Mechanism of Metformin in Improving PGRN-Induced Insulin Resistance of 3T3-L1 Cell

Huang Siqi , Liang Liyang , Meng Zhe , Zhang Lina , Hou Lele , Liu Zulin , Chen Hongshan

To investigate the effect of metformin on the PERK-eIF2a pathway in PGRN - induced insulin - resistant cell model. METHODS: The 3T3-L1 Insulin-resistance cell model was constructed by dexamethasone and PGRN. Metformin was used to act on the cell model to screen out the optimal concentration group for reducing PGRN,The experiment was divided into the normal control group, dexamethasone group, and PGRN group. 4-PBA and metformin were used to act respectively.Western Blot was use...

hrp0092p1-232 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

Two Chinese Children with FBN1-Related Acromelic Dysplasia

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

Background and Aims: Geleophysic dysplasia (GD) and acromicric dysplasia (AD) are rare skeletal dysplasia belonging to the group of acromelic dysplasia and are both characterized by severe short stature, short hands and feet, stiff joints, facial anomalies and some radiological manifestations, including delayed bone age, shortened long tubular bones and ovoid vertebral bodies. Patients with GD clinically present the characteristic "happy" facial featur...