A5066441199- Sexual Differentiation and Disorders
- Pancreatic function and diabetes
- Hormonal Regulation and Hypertension
- Diabetes Treatment and Management
- Metabolism, Diabetes, and Cancer
- Adrenal Hormones and Disorders
- Diabetes and associated disorders
- Thyroid and Parathyroid Surgery
- Genital Health and Disease
- Growth Hormone and Insulin-like Growth Factors
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Diabetes Management and Research
- Airway Management and Intubation Techniques
- Cancer, Hypoxia, and Metabolism
- Neuroendocrine Tumor Research Advances
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- interferon and immune responses
- Voice and Speech Disorders
- Tracheal and airway disorders
- Connective tissue disorders research
- Testicular diseases and treatments
Zhengzhou Children's Hospital
2015-2024
Zhengzhou University
2020-2024
Huashan Hospital
2018
Fudan University
2018
Abstract Context Aggrecan, encoded by the ACAN gene, is main proteoglycan component in extracellular cartilage matrix. Heterozygous mutations have been reported to cause idiopathic short stature. However, prevalence of pathogenic variants Chinese stature patients and clinical phenotypes remain be evaluated. Objective We sought determine among children characterize phenotypic spectrum their responses growth hormone therapies. Patients Methods Over 1000 unrelated ascertained across China were...
Transient neonatal diabetes mellitus (TNDM) is a rare form of that usually presents within the first 6 mo life. Patients often enter remission several months, although relapse can occur later in Mutations
Objective To analyze the clinical and molecular genetic characterizations of X-linked adrenal dysplasia congenita(AHC) onset in infant. Methods Seven children (from 7 families) with AHC who were admitted to Department Endocrinology, Genetics Metabolism, Children′s Hospital Affiliated Zhengzhou University, from July 2012 June 2017 selected.All patients screened for dosage-sensitive-sex reversal-adrenal hypoplasia congenital critical region on X chromosome gene1 (DAX1/NR0B1)...
Congenital hyperinsulinism (CHI) is the most common cause of severe, persistent hypoglycemia in neonates and infants. If patient does not respond to medical treatment currently available subtotal pancreatectomy, but some patients still experience severe after surgery. Sirolimus, a mammalian target rapamycin inhibitor has recently been reported be effective insulinoma CHI patients. Here we report with who had prolonged pancreatectomy. The heterozygous mutation ABCC8 was unresponsive an...
Objective: Exploration for chronic obstructive pulmonary disease with branched air lumen hamartoma by bronchoscoptic treatment. Material and Method: An old man was referred to our hospital shortness of breath many years. Clinical evidence emphysema on respiratory examination, lung function chest X-ray gave rise concern. He diagnosed as COPD treated ICS + LABA. But the is still existed. Initial assessment CT suggested a left lower lobe collapse. Then bronchoscope identified solid abnormality...
To analyze the clinical characteristics and genetic variants in a two-month-and-one-day male infant with aldosterone synthase deficiency.Clinical data of child was collected. Whole exome sequencing carried out by next generation sequencing(NGS). Candidate were verified Sanger sequencing.The had measured 54 cm (-2.1 SD) length 3.9 kg (-2.8 weight, featured recurrent vomiting, poor feeding, apathetic appearance failure to thrive. Blood electrolyte testing showed low sodium increased potassium....