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.

Diagnosis and treatment for one case of elderly diabetes complicated with Still's disease / 中南大学学报(医学版)

Adult onset Still's disease (AOSD) is a clinical syndrome with multiple organ failure.The patients normally show intermittent high fever for a long time,a transient rash,arthritis or joint pain as the main performance,accompanied by an increase in granulocytes and enlargement in liver,spleen and lymph node.A 71-years-old female patient with type 2 diabetes admitted hospital because of high fever,skin rash,joint pain and increased granulocyte.After review of the iron protein,she was diagnosed as AOSD.We found that clinicians need to improve the understanding for this disease in order to make the early diagnosis,especially in elderly patients with diabetes mellitus.In such patients,ferritin may not be high at early time.However,when the symptoms and signs are consistent with clinical manifestations,and anti-infection treatment effect is poor,we should pay attention to the disease,and repeated review of ferritin is necessary to assist the early diagnosis.

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.

The effect of low glycemic index diet and exercise on plasma glucose and lipid metabolism in patients with newly diagnosed type 2 diabetes / 中国基层医药

ObjectiveTo evaluate the effect of low glycemic index(LGI)diet and exercise on plasma glucose and lipid profiles in newly diagnosed type 2 diabetic patients. MethodsSeventeen newly diagnosed type 2 diabetic patients with FPG ≤ 10mml/L treated by LGI diet and exercise only for two months.Fasting plasma glucose (FPG),2 hours postprandial glucose(2hPG),glycosylated hemoglobin A1 C(GHbA1C),and lipid profiles were measured.The results of FPG,2hPG,GHbA1C,and lipid profiles were compared. ResultsTwo months after treatment,the level of fasting glucose(6.19 ± 0.60)mmol/L,postprandial 2h plasma glucose(8.59 ± 0.90)mmol/L,TG(1.15 ± 0.45)mmol/L,TC(4.98 ± 0.77)mmol/L,LDL(3.20 ± 0.71)mmol/L were significantly lower than (7.84 ± 1.19)mmol/L,(13.97 ± 3.35)mmol/L,TG(1.79 ± 0.75)mmol/L,TC(5.46 ± 0.27)mmol/L,LDL (3.57 ± 0.28)mmol/L,HDL(1.59 ± 0.30)mmol/L was significantly higher than(1.42 ± 0.26)mmol/L,the differences were statistically significant(all P＜0.05);HbA1c(6.49 ± 0.57)% was slightly lower than(7.29 ±0.77)%,but the difference was not significant(P＞0.05);No hypoglycemia was observed during the treatment. ConclusionThe exellent glycemic control and improvement of lipid profile could be achieved by low glycemic index diet and exercise only.Furthermore,no hypoglycemia occurred during the treatment.