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-...

hrp0095p2-174 | 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 ...

hrp0092p1-61 | Fat, Metabolism and Obesity | ESPE2019

Association Among PGRN, HMGB1, and Obesity Related Markers in Young Rat Model of High Fat Diet-Induced Obesity

Chen Hongshan , Li Dan , Zhang Yuanyuan , Huang Siqi , He Xiaohua

Objective: We aim to investigate the association among progranulin (PGRN), high-mobility group box 1 (HMGB1), and obesity related markers in young rat model of high fat diet-induced obesity.Materials and Methods: 20 Male Sprague-Dawley (SD) rats at the age of 21 days were divided into two groups randomly. The rats were fed with normal diet (NC group) or high-fat diet (OB group). The NC group and OB group were sacrificed ...

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...

hrp0095p1-363 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Medium-and long-term follow-up observation of the efficacy and safety of GnRHa in the treatment of five cases of central precocious puberty caused by hypothalamic hamartoma

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

Background: Hypothalamic hamartoma (HH) is the most common cause of organic central precocious puberty (CPP). Gonadotropin-releasing hormone analogue (GnRHa) is widely used in the treatment of HH combined with CPP, but there is no report on the medium-and long-term efficacy and safety of HH in China.Objective: To investigate the medium-and long-term efficacy and safety of GnRHa in the treatment of children with CPP cause...

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...

hrp0092p2-197 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Extending the Phenotype and Genotype of Okur–Chung Neurodevelopmental Syndrome

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

Background: okur-chung neurodevelopmental syndrome was confirmed to be associated with developmental disorders attributed to germline CSNK2A1 pathogenic missense variants. Only 26 cases and 22 kinds of genotype have been reported in the world so far. All reports highlighted the recognizable facial features of the syndrome as well as frequently occurring clinical features including neurodevelopmental delay, short stature, gastrointestinal, musculoskeletal and i...

hrp0092p3-89 | Diabetes and Insulin | ESPE2019

A Mitophagic Response to iron Overload-Induced Oxidative Damage Associated with the PINK1/Parkin Pathway in Pancreatic Beta Cells

ZHANG Lina , LIANG Liyang , LIU Zulin , HOU Lele , OU Hui , HUANG Siqi

An increased iron overload led to a disorder in glucose metabolism. However, the mechanism through which iron overload induces beta cell death remains unknown. The present study revealed that ferric ammonium citrate treatment inhibited cell viability in vitro, induced a decline in mitochondrial membrane potential, increased oxidative stress and activated mitophagy. These effects could be alleviated by a reactive oxygen species scavenger. In summary, we demonstrated th...

hrp0089p2-p136 | Fat, Metabolism and Obesity P2 | ESPE2018

Dyslipidemia and Its Related Factors in Chinese Children and Adolescents with Turner Syndrome

Huang Siqi , Chen Hongshan , Du Minlian , Li Yanhong , Ma Huamei , Chen Qiuli , Zhang Jun , Guo Song

Turner syndrome is associated with insulin resistance, increased incidence of type II diabetes, and hypertension, all of which are cardiovascular risk factors. The purpose of this study was to evaluate the lipid profile of Chinese girls with untreated Turner syndrome, (aged 2 to 15 years; 50.9% 45,XO) and age-matched, normal girls. A total of 108 girls with Turner syndrome and 99 normal girls had lipid profile measurements, including cholesterol, triglycerides,high-density lip...