Novel ABCB4 mutations in an infertile female with progressive familial intrahepatic cholestasis type 3:A case report

BACKGROUND Mutations that occur in the ABCB4 gene,which encodes multidrug-resistant protein 3,underlie the occurrence of progressive familial intrahepatic cholestasis type 3(PFIC3).Clinical signs of intrahepatic cholestasis due to gene mutations typically first appear during infancy or childhood.Reports of PFIC3 occurring in adults are rare.CASE SUMMARY This is a case study of a 32-year-old infertile female Chinese patient with a 15-year history of recurrent abnormal liver function.Her primary clinical signs were elevated levels of alkaline phosphatase andγ-glutamyl transpeptidase.Other possible reasons for liver dysfunction were eliminated in this patient,resulting in a diagnosis of PFIC3.The diagnosis was confirmed using gene detection and histological analyses.Assessments using genetic sequencing analysis indicated the presence of two novel heterozygous mutations in the ABCB4 gene,namely,a 2950C>T;p.A984V mutation(exon 24)and a 667A>G;p.I223V mutation(exon 7).After receiving ursodeoxycholic acid(UDCA)treatment,the patient's liver function indices improved,and she successfully became pregnant by in vitro fertilization.However,the patient developed intrahepatic cholestasis of pregnancy in the first trimester.Fortunately,treatment with UDCA was safe and effective.CONCLUSION These novel ABCB4 heterozygous mutations have a variety of clinical phenotypes.Continued follow-up is essential for a comprehensive understanding of PFIC3.

“Quito municipal schools” cohort study: Baseline results

The lack of population-level data on growth and development of children and adolescents in Ecuador, and the existence of previous data suggesting an alarming increase in the numbers of children presenting overweight or obesity justifies the present cohort study which includes all pupils of municipal schools of Quito aged 9 to 17 years. Follow-up will continue for a minimum of 7 years. This will allow determining the evolution of prevalence of these phenomena and their trends as well as other indices, both physiological and family-related customs, in order to plan appropriate preventive interventions. The present cross-sectional study includes 21 municipal schools, grouped into four health zones, each of which depends on a health centre, also municipal, and which are responsible for the health of pupils in these schools. Of the 6964 pupils studied, 18.7% suffer overweight and 7.9% obesity: 19.3% and 9.7% respectively in boys, compared to 18.2% and 5.4% in girls. The study also assesses family characteristics, degree of sedentarism and nutritional habits: 62.3% declared living in a nuclear family, and 60.5% declared their families to be in the “adolescent” life-cycle stage;91.9% of pupils were sedentary while 5.4% (CI95% 4.87 - 5.94) reported not eating breakfast every day.

Correlation Analysis of Personality Characteristics of Children with TIC Disorder with Family Factors

Objective To explore the personality characteristics of children with tic disorders and their relationship with family factors. Methods Sixty cases of children with tic disorders diagnosed in our hospital were selected as the case group and 65 cases of normal children were selected as the control group. The children of two groups were assessed using Eysenck Personality Questionnaire(EPQ), Family Environment Scale(FES-CV) and general situation questionnaire of family(GSQ), respectively. The scores of EPQ personality characteristics, FES-CV and GSQ scores were compared for the children in the two groups. The Person correlation analysis method was used to analyze the correlation between personality scores of children in case group and family environment factors. Results The general situation questionnaire results showed that there was significant statistically difference in parenting style, parental education level and family types of the children between case group and control group(P<0.05); EPQ results showed that the neuroticism and psychoticism scores of children in the case group were significantly higher than those in the control group(P<0.05) and the lying degree scores in the control group were significantly higher than those in the case group(P<0.05); FES-CV results showed that the family cohesion scores of the case group were significantly lower than those of the control group(P<0.05), and the family conflict scores in the case group were significantly higher than those in the control group(P<0.05). The Person correlation analysis results indicated that the psychoticism score was negatively correlated with the score of family cohesion(P<0.05), and positively correlated with family conflict(P<0.05), while the neuroticism score was positively correlated with family conflict score(P<0.05). Conclusion The children with tic disorders have significant personality deviation compared to the normal children, and the personality deviation degree is correlated to family contradiction, and family cohesion.