Genetic analysis of a Chinese pedigree affected with Mucopolysaccharidosis type ⅢA / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical and genetic characteristics of a patient with hypertrophic cardiomyopathy as the initial manifestation of Mucopolysaccharidosis type Ⅲ A (MPS Ⅲ A).@*METHODS@#A female patient with MPS Ⅲ A who was admitted to the Affiliated Hospital of Jining Medical University in January 2022 and her family members (seven individuals from three generations) were selected as the study subjects. Clinical data of the proband were collected. Peripheral blood samples of the proband was collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. Heparan-N-sulfatase activity was determined for the disease associated with the variant site.@*RESULTS@#The proband was a 49-year-old woman, for whom cardiac MRI has revealed significant thickening (up to 20 mm) of left ventricular wall and delayed gadolinium enhancement at the apical myocardium. Genetic testing revealed that she has harbored compound heterozygous variants in exon 17 of the SGSH gene, namely c.545G>A (p.Arg182His) and c.703G>A (p.Asp235Asn). Based on guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be pathogenic (PM2_Supporting +PM3+PP1Strong+PP3+PP4; PS3+PM1+PM2_Supporting +PM3+PP3+PP4). Sanger sequencing confirmed that her mother was heterozygous for the c.545G>A (p.Arg182His) variant, whilst her father, sisters and her son were heterozygous for the c.703G>A (p.Asp235Asn) variant. Determination of blood leukocyte heparan-N-sulfatase activity suggested that the patient had a low level of 1.6 nmol/(g·h), whilst that of her father, elder and younger sisters and son were all in the normal range.@*CONCLUSION@#The compound heterozygous variants of the SGSH gene probably underlay the MPS ⅢA in this patient, for which hypertrophic cardiomyopathy is an associated phenotype.

Clinical observation of esomeprazole combined with trimebutine on treatment of non-erosive reflux disease / 中国综合临床

Objective To investigate the effect and recurrence of the esomeprazole combined with trimebutine on treatment for non-erosive reflux disease(NERD).Methods One hundred and twenty-five cases of patients with NERD were randomly divided into the treatment group (n =62) and the control group (n =63).Patients in treatment group were received the esomeprazole 20 mg,twice a day and trimebutine 0.2 g,3 times a day,in control group were received the esomeprazole 20 mg,twice a day and mosapride 5 mg,3 times a day.After 8 weeks treatment,6 months follow-up was conducted and the effects and recurrence were evaluated.Results The clinical curative rates at 4th and 8th weeks treatment in treatment group were 75.8％ (47/62) and 95.2％ (59/62),higher than that of control group (57.1％ (36/63),x2 =4.879,P =0.027 ; 84.1％ (53/63),x2 =4.083,P =0.043).The GERDQ curative rates at 4th and 8th weeks treatment in treatment group were 72.6％ (45/62),93.5％ (58/62) respectively,significantly higher than that of the control group (52.4％ (33/ 63),x2 =5.434,P =0.020 ; 79.4％ (50/63),x2 =5.350,P =0.021).The recurrence rates of 6 months followup were 77.4％ (48/62) in the treatment group and 81.0％ (51/63) in the control group,there was no significant difference between the two groups (P =0.627).Conclusion Esomeprazole combined with trimebutine is safe and effective treatment on non-erosive reflux disease,and the recurrence rates was lower than that in the control group.