ABSTRACT
To characterize the clinical and molecular features of a patient with maturity-onset diabetes of the young 11(MODY11) and literature review. The patient was a 30-year-old female with hyperglycemia for 2 years. Failure to thrivea, primary amenorrhea, intellectual impairment, and severe hyperlipidemia were present at the same time. A novel mutations of the B lymphocyte kinase gene(BLK) c. 1025C>T(p.A342V) was found in the patient. Literature review revealed that there were more than ten mutation sites in BLK-MODY11. Some of them had hyperglycemia, over weight or systemic lupus erythematosus. To date, the clinical characteristics of the patient, such as growth retardation, primary amenorrhea, and intellectual impairment have not been reported in MODY11. Our clinical report further expands the clinical presentations and variabilities of MODY11.
ABSTRACT
A case of late-onset methylmalonic aciduria combined with hyperhomocysteinemia (cblC type) is reported. The main manifestations were the reduction of intelligence,the instability of walking,and the inability to take care of oneself,with secondary cerebral hemorrhage. The effect of treatment was good. MMACHC gene mutation detection showed exon1 deletion, indicating that delExon1 is one of the causes of late onset methylmalonic aciduria, cblC type.
ABSTRACT
Diabetes mellitus is a worldwide public health problem,which is a serious threat to human health.WHO released the global diabetes report shows Chinese incidence of type 2 diabetes was explosive growth in the past few decades,but public awareness of diabetes is generally inadequate,especially at the grassroots level.Therefore,it is imperative to regulate the basic level of diabetes diagnosis and treatment.As one of the basic measures of diabetes treatment in our country,education and management of diabetes' foundation is weak,mainly for the lack of national basic medical and health institutions,dull form of education and lack of target,shortages of specialized diabetes staff.So in order to safeguards the success of primary diabetes education and management and improve the prevention of primary diabetes,it is necessary to establish a sound mechanism of reward system,make full use of various payment platform,strengthen the basic management of diabetes monitoring information construction and carry out the Internet education measures.This article reviews the current situation of education and management of primary diabetes.
ABSTRACT
Objective\ To explore the risk factors of dementia induced by stroke.Methods\ 258 elder patients with stroke had been followed up for three months,including clinical neuropathy and neuropsychological tests.Multivariate noncondition stepwise Logistic model analysis was made after single variable analysis.Results\ There were 83 patients with dementia induced by stroke,175 patients without dementia after stroke.The morbidity was 32.2%.The following eight factors were associated with dementia i.e.,age,multiple lesions,left lesion,large area of cerebral hemorrhage or cerebral infarction,cerebral atrophy,hypertension,the history of stroke,and bilateral lesions.Conclusions\ Dementia induced by stroke is caused by multiple factors.It is closely correlated to numbers of cerebral lesions,the location of cerebral lesions and the size of brain tissue necrosis.The primary conditions of patients'cerebral function are also closely associated with the occurence of dementia.