Mutation analysis of SCN4A gene in a family with hypokalemic periodic paralysis / 中国医师杂志

Objective:To analyze the clinical features and SCN4A gentic background of a family with hypokalemic periodic paralysis.Methods:Peripheral blood samples and clinical data were collected from the proband, his brother and parents, and genomic DNA was extracted from these blood samples. Genome-wide exome sequencing was conducted to determine the mutation site in the proband and then allele-specific oligonucleotide primers were designed based on the mutation site. Polymerase chain reaction (PCR) was performed to detect the mutation site to further identify the causative gene in the family.Results:The patient was a 19-years-old male, Han nationality. The patient presented with periodic paralysis while hypokalemia at the same time. His father and grandpa have a similar medical history in the family. A hybrid missense variation (p.R672H) was identified in exon 12 of SCN4A gene in the proband. The same mutation was also detect in the proband's father.Conclusions:The heterozygous missense variation of SCN4A gene (p.R672H) found in this study resulted in familial hypokalemic periodic paralysis. Our research provided reference for the future genetic counseling of this patient and enriched the research data on the relationship between genotype and clinical manifestations.

The Positive Association between Subclinical Hypothyroidism and Newly-Diagnosed Hypertension Is More Explicit in Female Individuals Younger than 65

Background@#Subclinical hypothyroidism (SCH) is the most common thyroid dysfunction, and its relationship with blood pressure (BP) has been controversial. The aim of the study was to analyze the association between SCH and newly-diagnosed hypertension. @*Methods@#Based on data from the Thyroid disease, Iodine nutrition and Diabetes Epidemiology (TIDE) study, 49,433 euthyroid individuals and 7,719 SCH patients aged ≥18 years were enrolled. Patients with a history of hypertension or thyroid disease were excluded. SCH was determined by manufacturer reference range. Overall hypertension and stage 1 and 2 hypertension were diagnosed according to the guidelines issued by the American College of Cardiology/American Heart Association in 2017. @*Results@#The prevalence of overall hypertension (48.7%), including stage 1 (28.9%) and 2 (19.8%) hypertension, increased significantly in SCH patients compared with euthyroid subjects. With elevated serum thyroid stimulating hormone (TSH) level, the hypertension prevalence also increased significantly from the euthyroid to different SCH subgroups, which was more profound in females or subjects aged <65 years. The age- and sex-specific regression analysis further demonstrated the same trends in the general population and in the 1:1 propensity matched population. Similarly, several BP components (i.e., systolic, diastolic, and mean arterial BP) were positively associated with TSH elevation, and regression analysis also confirmed that all BP components were closely related with SCH in female subjects aged <65 years. @*Conclusion@#The prevalence of hypertension increases for patients with SCH. SCH tends to be associated with hypertension and BP components in females younger than 65 years.

Series interpretation to Chinese Expert Consensus on the Diagnosis and Treatment of Acromegaly(2020)(Part 5): Assessment, management, and follow-up of acromegaly complications / 中华内分泌代谢杂志

Acromegaly causes many complications such as bone and joint diseases, sleep apnea syndrome, glucose and lipid metabolism disorders, cardiovascular diseases, and tumors. Delays in clinical diagnosis and treatment have significantly increased the incidence of complications. According to " Chinese Expert Consensus on the Diagnosis and Treatment of Acromegaly(2020)" , we interpret the assessment, management, and follow-up of acromegaly comorbidities in order to guide and standardize the management of acromegaly comorbidities and improve the prognosis of patients.

The Positive Association between Subclinical Hypothyroidism and Newly-Diagnosed Hypertension Is More Explicit in Female Individuals Younger than 65

Background@#Subclinical hypothyroidism (SCH) is the most common thyroid dysfunction, and its relationship with blood pressure (BP) has been controversial. The aim of the study was to analyze the association between SCH and newly-diagnosed hypertension. @*Methods@#Based on data from the Thyroid disease, Iodine nutrition and Diabetes Epidemiology (TIDE) study, 49,433 euthyroid individuals and 7,719 SCH patients aged ≥18 years were enrolled. Patients with a history of hypertension or thyroid disease were excluded. SCH was determined by manufacturer reference range. Overall hypertension and stage 1 and 2 hypertension were diagnosed according to the guidelines issued by the American College of Cardiology/American Heart Association in 2017. @*Results@#The prevalence of overall hypertension (48.7%), including stage 1 (28.9%) and 2 (19.8%) hypertension, increased significantly in SCH patients compared with euthyroid subjects. With elevated serum thyroid stimulating hormone (TSH) level, the hypertension prevalence also increased significantly from the euthyroid to different SCH subgroups, which was more profound in females or subjects aged <65 years. The age- and sex-specific regression analysis further demonstrated the same trends in the general population and in the 1:1 propensity matched population. Similarly, several BP components (i.e., systolic, diastolic, and mean arterial BP) were positively associated with TSH elevation, and regression analysis also confirmed that all BP components were closely related with SCH in female subjects aged <65 years. @*Conclusion@#The prevalence of hypertension increases for patients with SCH. SCH tends to be associated with hypertension and BP components in females younger than 65 years.

Complete androgen insensitivity syndrome in identical twins / 中华内分泌代谢杂志

Androgen insensitivity syndrome (AIS) is a recessive single gene disease of X chromosome, which is rare clinically and has a very low incidence in newborn boys. This is mainly due to the abnormal pathway in which androgens play a role, resulting in sexual differentiation disorder in patients. A pair of identical twins were admitted to our hospital, and a new pathogenic mutation site of the androgen receptor gene was found, resulting in an androgen insensitivity phenotype.

Clinical investigation on diabetes mellitus in very elderly patients / 中华老年医学杂志

Objective To study the clinical characteristics of very elderly patients aged 80 years and over with diabetes mellitus (DM).Methods Clinical data of 95 very elderly patients with diabetes mellitus were retrospectively analyzed.Results Among 95 patients,patients with type 2 diabetes mellitus accounted for 98.9％ (94/95),patients with asymptomatic onset accounted for 35.8％ (34/95).The incidence of acute complications of diabetes mellitus was 11.6 ％ (11/95).Chronic complications of peripheral neuropathy and diabetic nephropathy were more common,and their incidences were 83.2％ (79/95) and 45.3％ (43/95),respectively.The percentage of patients with multiple chronic complications was up to 45.3％ (43/95).The percentage of DM patients combined with hypertension,coronary heart disease,cerebral infarction,hyperlipidemia or cardiac valve calcification was 80.0％ (76/95),48.4％ (46/95),77.9％ (74/95),42.1％ (40/95)and 33.7％ (32/ 95),respectively.There were 29 patients (30.5％) with the simultaneous presence of DM,hypertension,cerebral infarction,coronary heart disease,and hyperlipidemia in a same patient.The proportion of DM patients with low serum albumin was 47.4％ (45/95),and the rate achieving the target low density lipoprotein level was only 35.8％ (34/95).In the treatment,67.4％ (64/95) of patients were treated with oral hypoglycemic agents combined with insulin injection.The incidence of hypoglycemia was 24.2％ (23/95),and 69.6％ (16/23) of them had no self-conscious hypoglycemic symptoms.Conclusions Chronic complications are common in elderly diabetes mellitus patients.The elderly DM patients are prone to have many complications at the same time,with a higher incidence of hypoglycemic value under 3.9 mmol/L and lower rate of hypoglycemic symptoms.