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Gaucher disease, the most prevalent lysosomal storage disease and transmitted as an autosomal recessive trait results from an inherited deficiency in the enzyme glucocerebrosidase. The enzyme substrate glucocerebroside accumulate in the patient's spleen, liver and bone marrow. The resultant accumulation in several tissues and organs leads to numerous manifestations like anemia, hepatosplenomegaly, thrombocytopenia, growth retardation and skeletal disease. Three clinical forms of Gaucher disease have been described: Type 1 non-neuronopathic, Type 2 acute neuronopathic, and Type 3 subacute neuronopathic. The gene responsible for glucocerebrosidase is GBA, located on chromosome lq21. There are 11 exon and 10 introns are present in the gene. The exon 9 and 10 is the hot spot exon of said disease in Asia and also reported in worldwide. The current study was about on exon 10 because its most common exon. In current study, 7 families were involved for sequencing and molecular analysis. For sequencing, genomic DNA extraction was done by the phenol-chloroform method and PCR reaction were done. Sequencing of 7 patients revealed 12 different variants including 5 polymorphisms (Homo/hetero). 3 variants out of these 5 were nonsynonymous. The other 7 variants were predicted to be disease causing mutation by mutation taster. 4 out of 7 mutations were non-synonymous, while 3 were synonymous. 6 novel mutations were found, 02 of them were homozygous and 04 are heterozygous mutations, and one already reported mutation c.1152G>A with rs12747811. While we found 4 novel polymorphisms, 02 heterozygous and 02 homozygous polymorphisms and one of them was already reported polymorphism that is chr1:155205170A>G having rs143255568. This shows comprehensive picture of molecular properties of GBA gene and related phenotypic variations in the patients. We need further evaluation of remaining exons in order to determine the carrier ratio of Gaucher disease in our population or whether we should screen our neonates for such lysosomal disorders. [ABSTRACT FROM AUTHOR]

OBJECTIVE: To evaluate self-reported oral health status, investigate the factors responsible for lack of pregnant women utilization of dental services and assess their vulnerability todevelop of oral diseases. METHODOLOGY: In this cross-sectional study, 183 pregnant women were recruited by systemic sampling technique from four maternity centers ofKarachi. The study participants filled out structured questionnaires, followed by oral examination. For data analysischi-square and binary logistic regression were used with the help of SPSS version 21. Results: The age and monthly income of pregnant women showed statistically significant relationship with self-reported oral health status (p<0.05), whereas level of education showed statistically significant relationship with dental service utilization (p<0.05).Most common symptoms were dentine hyper-sensitivity (38.2%), dental caries (12.5%), halitosis (31.1%) and pain (20.7%). CONCLUSION: Financial barriers and training were found to be the primary factors for lack of utilization of dental services. [ABSTRACT FROM AUTHOR]

Background: Knowledge about multisystem inflammatory syndrome in children (MIS-C) is evolving, and evidence-based standardised diagnostic and management protocols are lacking. Our review aims to summarise the clinical and diagnostic features, management strategies and outcomes of MIS-C and evaluate the variances in disease parameters and outcomes between high-income countries (HIC) and middle-income countries (MIC)., Methods: We searched four databases from December 2019 to March 2023. Observational studies with a sample size of 10 or more patients were included. Mean and prevalence ratios for various variables were pooled by random effects model using R. A mixed generalised linear model was employed to account for the heterogeneity, and publication bias was assessed via funnel and Doi plots. The primary outcome was pooled mean mortality among patients with MIS-C. Subgroup analysis was conducted based on the income status of the country of study., Results: A total of 120 studies (20 881 cases) were included in the review. The most common clinical presentations were fever (99%; 95% CI 99.6% to 100%), gastrointestinal symptoms (76.7%; 95% CI 73.1% to 79.9%) and dermatological symptoms (63.3%; 95% CI 58.7% to 67.7%). Laboratory investigations suggested raised inflammatory, coagulation and cardiac markers. The most common management strategies were intravenous immunoglobulins (87.5%; 95% CI 82.9% to 91%) and steroids (74.7%; 95% CI 68.7% to 79.9%). Around 53.1% (95% CI 47.3% to 58.9%) required paediatric intensive care unit admissions, and overall mortality was 3.9% (95% CI 2.7% to 5.6%). Patients in MIC were younger, had a higher frequency of respiratory distress and evidence of cardiac dysfunction, with a longer hospital and intensive care unit stay and had a higher mortality rate than patients in HIC., Conclusion: MIS-C is a severe multisystem disease with better mortality outcomes in HIC as compared with MIC. The findings emphasise the need for standardised protocols and further research to optimise patient care and address disparities between HIC and MIC., Prospero Registration Number: CRD42020195823., Competing Interests: Competing interests: No, there are no competing interests., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)