ABSTRACT
The clinical data, diagnose and treatment of a child with familial glucocorticoid deficiency (FGD) caused by the NNT gene mutation who was treated in the Department of Endocrinology, Children′s Hospital Affiliated to Nanjing Medical University in November 2014 were retrospectively analyzed.The female child with 1 year and 5 months old presented with 6 months of skin pigmentation.Laboratory examinations showed decreased cortisol and increased adrenocorticotropic hormone.During the follow-up period, she developed convulsions and precocious puberty.Whole exome sequencing revealed that the patient carried a homozygous mutation c. 1054G > A (p.G352R) in exon 8 of the NNT gene, which was a newly reported gene mutation.Domestic cases of FGD caused by the NNT gene mutation has never been reported yet.Through literature review of a total of 40 reported children with FGD caused by the NNT gene mutation, typical manifestations included skin pigmentation, hypoglycemia and seizures, alongside mineralocorticoid deficiency, precious puberty, abnormal male gonadal development, thyroid diseases and heart diseases.
ABSTRACT
Graves disease(GD) is the most common cause of hyperthyroidism in children.GD is an autoimmune thyroid disease which is based on genetic susceptibility and exacerbated by environmental factors including infection, toxin, drugs and stress.Antithyroid drugs(ATD) are the first-line treatment for GD in children.However, many children relapsed after discontinuing ATD, and the relapse rate between different children varied.Till now, exact cause has not been clarified.Previous studies prove that sex, age, micro-element, goiter size, thyroid hormone level, TRAb level, duration of ATD treatment and genetics may affect prognosis of pediatric GD.Yet predictors precious studies identified were variable.
ABSTRACT
The clinical data of a child with SHORT syndrome caused by PIK3R1 gene mutation in Children′s Hospital of Nanjing Medical University was retrospectively analyzed.The patient was a 11 years old and 5 months Chinese girl initially hospitalized due to polyuria, polyphagia and polydipsia in the past 2 months.Physical examination showed decreased subcutaneous fat on the face, a triangular-shaped face, ocular depression, a wide nose bridge, hypoplastic nasal alae, columnar depression in the low part of the nose, downturned lips, hyperpigmentation of the skin of the neck, axillae, cubital and popliteal fossae and groins (acanthosis nigricans). Besides, slight cubitus valgus and hyperextension were observed.Laboratory tests showed diabetes mellitus with insulin resistance.Whole exome sequencing identified a de novo heterozygous PIK3R1 mutation (c.1945C>T, p.Arg649Trp), SHORT syndrome is a rare autosomal dominant disorder, characterized by special facial appearance, lipodystrophy and insulin resistance.Molecular analysis of the PIK3R1 gene permits confirmation of the diagnosis.The patients with SHORT syndrome require multidisciplinary management, and early diagnosis can prevent complications and reduce the burden on the family.
ABSTRACT
The clinical data of a patient with maturity-onset diabetes of the young 11 (MODY11) caused by B lymphocyte kinase( BLK) gene mutations in Children′s Hospital Affiliated to Nanjing Medical University in August 2018 were retrospectively analyzed.The diabetes mellitus epidemiologic investigation was carried out on the patient′s family.The 13-year-old boy was diagnosed with type 1 diabetes at the local hospital 6 months ago.Physical examination showed that he was 65.5 kg in weight, 169.2 cm in height and 22.9 kg/m 2 in the body mass index.He was overweight without acanthosis nigricans.Laboratory measurements revealed fasting blood glucose 11.79 mmol/L, fasting insulin 18.05 mmol/L, and fasting C-peptide 1.12 mmol/L.The glycosylated hemoglobin was 12.0%, while the islet antibodies were all negative.Among 4 consecutive generations of this family, 11 members presented with diabetes, 8 cases of who were treated with insulin and 3 cases with oral hypoglycemic drugs.The whole exome sequencing identified a heterozygous mutation in exon 9 of BLK (c.809C>T) in this patient and his mother.This mutation caused the amino acid change p. T270M (threonine>methionine). Many cases of MODY are misdiagnosed as either type 1 diabetes or type 2 diabetes.MODY11 is rare, mostly characterized by overweight or obesity, insufficient serum insulin secretion and commonly insulin dependence.
ABSTRACT
Abstract A method for determination of trace mercury in water was established. The trace mercury in water was adsorbed quantitatively by activated carbon, and then determined by electrical pyrolysis atomic absorption spectrometry. In comparison with the detection methods of total mercury in water at present, the method avoids the steps of digestion, reduces the mercury pollution and the loss of the mercury, and is simple in operation. The effects of particle size of activated carbon, acid treatment method, acid medium and enrichment time on the enrichment efficiency were investigated. The effect of the pyrolysis temperature and the interfering ions on the determination results was investigated. Three standard addition procedures including activated carbon blank addition, solution blank addition and environmental water samples addition were studied. Regression correlation coefficients of three standard curves drawn by the three methods reached 0 . 9999 . The slope of the three standard curves had no difference by statistical test, indicating that the determination of mercury in environmental water samples under the experiment conditions was not interfered by the coexistent elements, which showed that the activated carbon blank addition method could be directly used for preparing standard curve of the method. The water samples containing 5 ng/L and 50 ng/L mercury were determined by the method, and the relative standard deviation were 7. 2% and 4. 2% (n=11), respectively, with a detection limit of 1. 2 ng/L. The recovery experiment was carried out after adding 10 ng/L mercury to the surface water and tap water samples, and the recoveries were between 92. 0% and 103. 0%. Analysis results were compared with ICP-MS as control and the deviation of the two methods were between 2 . 9% and 3 . 4%, indicating that the method was accurate and reliable, and had good precision.
ABSTRACT
Objective To explore the relationship of zearalenone (ZEA) and precocious puberty in girls.Methods The peripheral serums from 71 cases of precocious puberty girls and 50 cases of healthy girls were collected respectively and concentrations of ZEA were detected by high performance liquid chromatography.Bone age,body mass index (BMI),volume of uterus and ovaries,concentrations of estradiol (E2),luteinizing hormone (LH) and folliclestimulating hormone (FSH) were detected,and the residence of each subject was recorded as well.Results (1) In 71 patients,52 patients were diagnosed as idiopathic central precocious puberty,others were diagnosed as premature thelarche.(2) In 71 patients,serum ZEA was detected from 51 patients,and undetected in 20 patients.(3)Concentration of ZEA in precocious puberty girls [(318 ±34) ng/L]was significantly increased than that in healthy girls [(143 ± 35) ng/L,P =0.002],but no distinct difference existed between ICPP group and PT group(P =0.326).(4)Compared with uterus volume of ZEA in the undetected patients (1.975 ±0.150) cm3,the uterus volume of ZEA detected patients (2.972 ±0.180) cm3,which was significantly enlarged,there was significant difference (P =0.01) ; Percentage of overweight girls in ZEA detected patients (31.4％,16/51 cases) was lower than which in ZEA undetected patients (65.0％,13/20 cases,P =0.01) ; Although there was no statistical differences in the breast diameter,bone age,value of E2,LH and FSH between ZEA detected patients and undetected patients (all P ＞ 0.05),but the increased tendency in ZEA detected patients existed.(5) ZEA in serum was detected in 53.3％ (16/30 cases) patients living in the cities,and the rate was obviously lower than 82.9％ of the patients (34/41 cases) living in the countryside,there was significant difference (P =0.007).Conclusions ZEA is correlated with precocious puberty in girls.ZEA pollution might be one of reasons for precocious puberty occurrence.