ABSTRACT
OBJECTIVE@#To analyze variant of LDLR gene in a patient with familial hypercholesterolemia (FH) in order to provide a basis for the clinical diagnosis and genetic counseling.@*METHODS@#A patient who had visited the Reproductive Medicine Center of the First Affiliated Hospital of Anhui Medical University in June 2020 was selected as the study subject. Clinical data of the patient was collected. Whole exome sequencing (WES) was applied to the patient. Candidate variant was verified by Sanger sequencing. Conservation of the variant site was analyzed by searching the UCSC database.@*RESULTS@#The total cholesterol level of the patient was increased, especially low density lipoprotein cholesterol. A heterozygous c.2344A>T (p.Lys782*) variant was detected in the LDLR gene. Sanger sequencing confirmed that the variant was inherited from the father.@*CONCLUSION@#The heterozygous c.2344A>T (p.Lys782*) variant of the LDLR gene probably underlay the FH in this patient. Above finding has provided a basis for genetic counseling and prenatal diagnosis for this family.
Subject(s)
Humans , Cholesterol, LDL/genetics , Heterozygote , Hyperlipoproteinemia Type II/genetics , Mutation , Pedigree , Phenotype , Receptors, LDL/geneticsABSTRACT
Objective:To investigate the clinical features and genetic mutations of microvillus inclusion disease (MVID).Methods:Clinical features and gene sequencing results of a neonate with MVID in Children's Hospital of Chongqing Medical University in August 2019 were retrospectively analyzed. Literature was retrieved up to October 2021, with the terms of microvillus inclusion disease, congenital microvilli atrophy, MVID, MYO5B, STX3, and STXBP2 in China National Knowledge Infrastructure, Wanfang Database, VIP database, and PubMed. Clinical features, diagnosis, and treatment of the reported MVID cases were reviewed. Results:(1) Case report: A male infant presented with jaundice two days after birth and was admitted to our hospital. Clinical features included intractable diarrhea, intermittent abdominal distension, uncorrectable dehydration, and weight loss. Laboratory test results indicated metabolic acidosis, electrolyte disorder, and cholestasis. Whole exome sequencing confirmed the diagnosis of MVID in this baby boy with compound heterozygous mutations of c.1021C>T(p.Q341*) and c.1125G>A(p.W375*) in the MYO5B gene, which were inherited from the father and the mother, respectively. (2) Literature review: Except for the present case, 31 patients from 20 articles were reviewed, and the typical clinical manifestations were intractable diarrhea, accompanied by dehydration, metabolic acidosis, electrolyte disorder, etc. Some patients also developed extra-gastrointestinal symptoms, including feeding difficulties and malnutrition (8/18), respiratory distress syndrome (4/18) and jaundice/cholestasis (4/18) in patients with MYO5B mutations; feeding difficulties and malnutrition (2/5), respiratory distress syndrome (1/5), and sepsis (1/5) in patients with STX3 mutations; feeding difficulties (2/9), respiratory distress syndrome (1/9), jaundice/cholestasis (1/9), sepsis (1/9), and hypoglycemia (1/9) in patients with STXBP2 mutations. In terms of the demographic data and prenatal examination, preterm birth (8/18), fetal bowel dilatation (5/18), polyhydramnios (5/18), parental consanguinity (2/18), and meconium-stained amniotic fluid (2/18) occurred among patients with MYO5B mutations. In those with STX3 mutations, parental consanguinity (3/5), fetal bowel dilatation (1/5), polyhydramnios (1/5), and meconium-stained amniotic fluid (1/5) occurred. Of nine patients with STXBP2 mutations, parental consanguinity (3/9), preterm birth (2/9), and polyhydramnios (2/9) occurred. Conclusions:MVID has atypical clinical features and a high mortality, resulting in difficulty in the diagnosis and treatment. The possibility of MVID should be considered when an infant presents with intractable diarrhea, dehydration, metabolic acidosis, and electrolyte disorder accompanied by multiple extra-gastrointestinal symptoms. Early identification of MYO5B, STX3, and STXBP2 mutations will benefit prompt intervention, prognosis evaluation, and genetic counseling.
ABSTRACT
Renal cell carcinoma is one of the ten multiple cancers, and its incidence rate and mortality rate have been increasing in more than 20 years. Clear cell renal cell carcinoma (ccRCC) is the most common histopathological subtype. Cyclic ribonucleic acids (circRNAs) are noncoding ribonucleic acids, which are widely distributed with diverse cellular functions and have organ- and tissue-specific expression patterns. Recent studies have shown that circRNAs are abnormally expressed in ccRCC and play an important role in the occurrence and development of ccRCC. However, there are few researches and related mechanisms of circRNAs regulating the biological behavior of ccRCC. Therefore, the paper mainly describes the research progress of circRNAs regulating the biological behavior of ccRCC and discusses its potential as a biomarker for early diagnosis and prognosis of ccRCC and targeted therapy.
ABSTRACT
Betel quid dependence(BQD)is a chronic recurrent brain disease characterized by loss of self-control and compulsive repeated use of drugs, which conforms to the characterics of addictive behavior classified by the World Health Organization.Long term chewing Betel nut can increase the risk of a variety of cancers such as oral cancer.The BQD research lacks the ideal animal model whereas the mechanism of BQD is still not clear, and there is no effective treatment and prevention. Notably, neuroimaging technology has provided a non-invasive, quantitative assessment method for the neural mechanism of BQD. The author summarized the neural mechanism and imaging studies progress of BQD, and these findings provided preliminary objective evidence for the brain changes of BQD, which was helpful for the deep understanding of the neuropathic mechanism of BQD, and provided theoretical basis for the early intervention and treatment.
ABSTRACT
Betel quid dependence(BQD)is a chronic recurrent brain disease characterized by loss of self-control and compulsive repeated use of drugs,which conforms to the characterics of addictive behavior classified by the World Health Organization. Long term chewing Betel nut can increase the risk of a variety of cancers such as oral cancer. The BQD research lacks the ideal animal model whereas the mechanism of BQD is still not clear,and there is no effective treatment and prevention. Notably,neuroimaging technology has provided a non-invasive,quantitative assessment method for the neural mechanism of BQD. The author sum-marized the neural mechanism and imaging studies progress of BQD,and these findings provided preliminary objective evidence for the brain changes of BQD,which was helpful for the deep understanding of the neuro-pathic mechanism of BQD,and provided theoretical basis for the early intervention and treatment.
ABSTRACT
Objective To deeply investigate the psychosocial factors affecting Chinese nurse occupational burnout.Methods An online literature search was carried out in China National Knowledge Infrastructure,VIP Database for Chinese Technical Periodicals and Wanfang database to collect relevant articles.CMA2.0 was used to analyze the fifty literatures which satisfied the uniform inclusion and exclusion criteria.Results (1)On emotional exhaustion and depersonalization,passive coping styles had moderate positive effect,neuroticism had high positive effect,work stress had low positive effect; active coping styles,self-efficiency,social support and extroversion had low negative effect.Psychotics and lying had positive or negative moderate effect on depersonalization respectively.(2)On personal accomplishment,self-efficiency had high positive effect,active coping styles,lying and subjective support had moderate positive effect,neuroticism,psychotics and work stress had small negative effect,passive coping styles had no effect.(3)Self-esteem had no significant relationship with occupational burnout.Conclusions Nurse's occupational burnout resulted from psychosocial factors,including coping style,self-efficiency,personality,social support and work stress.