Publications by authors named "Fuhui Ma"
Objective: To evaluate the performance of MDM-score system in screening for mitochondrial diabetes mellitus (MDM) with m.3243A>G mutation in newly diagnosed diabetes.
Methods: From 2015 to 2017, we recruited 5130 newly diagnosed diabetes patients distributed in 46 hospitals in China.
Article Synopsis
- Selecting the right individuals for genetic testing is crucial for optimal treatment of maturity-onset diabetes of the young (MODY), but screening methods remain unclear in China.
- In a study of 1911 type 2 diabetes patients aged 15-35, researchers analyzed 14 MODY genes to evaluate the effectiveness of traditional MODY criteria and a MODY probability calculator (MPC) as screening strategies.
- The MPC outperformed traditional criteria in sensitivity (54.8% vs. 19.0%) and positive predictive value (PPV) (6.1% vs. 1.6%), leading to a recommendation for routine genetic testing for young type 2 diabetes patients with an MPC value over
CYP11B1 encodes an 11β-hydroxylase that is involved in the catalysis of adrenal glucocorticoids and the production of cortisol. Mutations in CYP11B1 can result in congenital adrenal hyperplasia. We discovered a proband with a CYP11B1 gene mutation.
View Article and Find Full Text PDF[Analysis of a patient with Kallmann syndrome and a 45,X/46,XY karyotype].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
November 2022
Objective: To explore the etiology of a patient with Kallmann syndrome (congenital hypogonadism and anosmia) and a 45,X/46,XY karyotype.
Methods: Peripheral venous blood samples were collected from the proband and his parents and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.
Background: The interrelation between obesity and autoimmune thyroid diseases is complex and has not been confirmed. The aim of the present study was to observe the relationship between thyroid autoimmunity and obesity, especially abdominal obesity, in a large population.
Methods: A total of 2253 residents who had lived in Xinjiang for more than 3 years were enrolled.
[Changes of thyroid function, thyroid antibodies and urinary iodine among permanent residents of Urumqi in Xinjiang].
Zhonghua Liu Xing Bing Xue Za Zhi
August 2015
Objective: To understand the rates of diagnosis on thyroid disease and the differences in the distribution of age groups among those permanent residents, to analyze the relationships among thyroid function, thyroid antibodies and urinary iodine.
Methods: A cross-sectional survey was performed in 1 995 permanent residents in Urumqi, Xinjiang in May, 2013, Among them, 1 906 were healthy adults aged 18-84 age, with mean age as (46.3 ± 14.