Adult ; Aged ; Chromosomes, Human, Pair 7 ; genetics ; Female ; Humans ; Male ; Middle Aged ; Pedigree ; Polydactyly ; genetics

Adult ; Child ; Female ; Humans ; Keratoderma, Palmoplantar ; genetics ; pathology ; Male ; Pedigree

Adolescent ; Adult ; Aged, 80 and over ; Arthrogryposis ; genetics ; Child ; Female ; Humans ; Male ; Middle Aged ; Pedigree

Adult ; Brachydactyly ; genetics ; Chromosome Aberrations ; Female ; Fingers ; abnormalities ; Humans ; Male ; Pedigree

Adult ; Humans ; Male ; Pedigree ; Polydactyly ; genetics

Objective:To identify the pathogenic characteristics of a suspected gonadal mosaicism Becker muscular dystrophy (BMD) family, and provide provide basis for pregnancy selection of similar families.Methods:A BMD family admitted to Hunan Jiahui Genetics Hospital from June 2012 to September 2019 was systematically reviewed. The medical history and family history of the proband were checked, and multiplex ligation-dependent probe amplification was used to detect the deletion/duplication of 79 exons of the Duchenne muscular dystrophy (DMD) gene in the proband, fetuses, and parents. Moreover, potential variants were verified by combining PCR amplification, short tandom repeat polymorphic linkage analysis, and real-time fluorescence quantitative PCR. High-quality embryos are screened for transplantation after preimplantation genetic testing for monogenic (PGT-M). And amniotic fluid was collected in the second trimester for prenatal diagnostic verification.Results:According to the phenotype analysis of the proband, the initial clinical diagnosis was BMD, and the exon 45-50 deletion in DMD gene was detected. The mutation was not detected in the mother′s peripheral blood, but when she was pregnant again, the prenatal diagnosis showed that the fetus had the same deletion mutation as the proband. Neither of two vitro embryos tested by PGT-M has the deletion mutation, then single embryo transfer was performed nor was pregnancy successful. After confirmation of prenatal diagnosis during pregnancy, a normal baby girl was born by full-term cesarean section.Conclusions:This BMD family was a family with two consecutive BMD homodeletion mutations, and the mutation of the DMD gene was not detected in the peripheral blood of the proband′s mother and two embryonic cells, suggesting that the mother may be a gonad chimeric carrier of this deletion mutation. The combined application of prenatal diagnosis and PGT-M provides a reference approach to effectively avoid the birth of similar children.

Objective: A model was built by neural network analysis to study the relationship between different degrees of vitamin B12 and folic acid deficiency and malnutrition-induced stomatitis. Methods: Data from 30 healthy volunteers and 30 patients with malnutrition-induced stomatitis were collected. The distribution of lesions, the number of affected sites and clinical manifestations were recorded, and the severity was scored. The levels of vitamin B12 and folic acid in the peripheral blood of the two groups were simultaneously measured. The SPSS software was used to analyze the correlation between vitamin B12 and folic acid levels in the peripheral blood of patients with malnutrition-induced stomatitis and healthy volunteers, and the MATLAB software package was used to analyze the data via a neural network. Results: The levels of vitamin B12 and folic acid significantly correlated with the grade of malnutrition-induced stomatitis. Simultaneous B12 and folic acid deficiency linearly correlated with the occurrence and severity of malnutrition-induced stomatitis. Based on this correlation, a thermogram model of malnutrition-induced stomatitis was constructed. Conclusion Malnutrition-induced stomatitis is closely related to vitamin B12 and folic acid deficiency. Their synergistic effect may promote the occurrence and development of malnutrition-induced stomatitis. The construction of the malnutrition-induced stomatitis model aids the targeted etiological treatment of patients with moderate and severe deficiency to prevent malnutrition-induced stomatitis.

Objective: To investigate the incidence and prognosis of cognitive impairment and to find out the risk factors associated with the outcome for better understanding and preventing cognitive impairment in maintenance hemodialysis (MHD) patients. Methods: The patients who met the criteria as below: MHD patients (≥3 months) in Renji Hospital, Shanghai Jiao Tong University School of Medicine from January 2000 to July 2014, ≥18 years old were enrolled and could carry on the montreal cognitive assessment (MoCA) of voluntary cooperation. According to the score of MoCA, all enrolled patients were divided into two groups: cognitive impairment (MoCA<26) group and non-cognitive impairment (MoCA≥26) group. The follow-up period was 3 years. There were 130 males, and the incidence, demography data, medical history, hemodialysis data, laboratory examination and prognosis of cognitive impairment in hemodialysis patients were prospectively compared and analyzed. Logistic regression analysis was used to investigate the risk factors of cognitive impairment. Kaplan-Meier survival curve and Cox regression model were used for prognostic analysis. Results: A total of 219 MHD patients were enrolled. The incidence of cognitive impairment in MHD patients was 51.6%. There were 130 males, and the ratio of male to female was 1.46∶1. Age was (60.07±12.44) years old and dialysis vintage was (100.79±70.23) months. Compared with non-cognitive impairment group (n=106), patients in cognitive impairment group (n=113) were older, and had higher proportion of education status<12 years, history of diabetes and anuria (all P<0.05); however, the post-dialysis systolic pressure, pre-dialysis diastolic pressure, post-dialysis diastolic pressure, platelet and spKt/V were lower (all P<0.05). Multivariate logistic regression analysis showed that education status<12 years (OR=3.428, 95%CI 1.919-6.125, P<0.001), post-dialysis diastolic pressure<73 mmHg (OR=2.234, 95%CI 1.253-3.984, P=0.006) and spKt/V<1.72(OR=1.982, 95%CI 1.102-3.564, P=0.022) were the independent risk factors for cognitive impairment in MHD patients. The Kaplan-Meier survival curve analysis showed that the survival rate of patients with cognitive impairment was lower than that of non-cognitive impairment group in MHD patients during 3 years follow-up (χ²=3.977, P=0.046). Multivariate Cox regression analysis showed that cognitive impairment was an independent risk factor for death in MHD patients (RR=2.661, 95%CI 0.967-7.321, P=0.058). Conclusions Cognitive impairment is one of the common complications and an independent risk factor for death in MHD patients. The mortality is high in patients who suffer cognitive impairment. Education status<12 years, post-dialysis diastolic pressure<73 mmHg and spKt/V<1.72 are the independent risk factors for cognitive impairment in MHD patients.