Purpose: The purpose of this study was to determine the pattern of human leukocyte antigen (HLA)-DQ genotype in children diagnosed with celiac disease (CD) (biopsy proven), and to compare this with a control group; and secondarily, to correlate HLA genotypes with clinical profiles of CD. Methods: This cross-sectional comparative observational study included 26 controls and 52 patients diagnosed with CD who presented at Sir Padampat Mother and Child Health Institute, Jaipur, from May, 2017 to October, 2018. HLA DQ genotype was assessed for each patients and correlated with clinical profiles. Results: HLA DQ2/DQ8 genotypes were significantly more common in CD (present in 100.0% cases) than in controls (23.1%) in Northern India (Rajasthan). When HLA DQ2.5 and DQ8 were present together, individuals had significantly more atypical presentations and severe findings on duodenal biopsy. Similarly, patients with the HLA DQ 2.5 genotype were also predisposed to more severe endoscopic findings, while HLA DQ2.2 predisposed them to less severe biopsy findings. HLA DQ8 was significantly associated with later age at diagnosis (>5 years) and shorter stature. The highest HLA DQ relative risk (RR) for CD development was associated with HLA DQ2.5 and DQ2.2 in combination, followed by HLA DQ2.5 and DQ8 in combination, while HLA DQx.5 and HLA DQ2.2 together had the lowest risk. Conclusion HLA DQ2/DQ8 genotypes are strongly associated with pediatric CD patients in northern India. These genotypes and their combinations may be associated with different clinical presentations of CD, and may help predict severity of CD.

AIMTo determine if Yq microdeletion frequency and loci of deletion are similar in two tissues (blood and sperm) of different embryological origin.

METHODSThe present study included 52 infertile oligozoospermic cases. In each case, DNA was isolated from blood and sperms and polymerase chain reaction (PCR) microdeletion analysis was done from genomic DNA isolated from both the tissues. The PCR products were analyzed on a 1.8% agarose gel. PCR amplifications found to be negative were repeated at least three times to confirm the deletion of a given marker.

RESULTSOnly 1 case harbored microdeletion in blood DNA, whereas 4 cases harbored microdeletion in sperm DNA.

CONCLUSIONThe frequency of Yq microdeletions is higher in germ cells as compared to blood. As the majority of infertile couples opt for assisted reproduction procreation techniques (ART), Yq microdeletion screening from germ cells is important to understand the genetic basis of infertility, to provide comprehensive counseling and most adapted therapeutics to the infertile couple.

Chromosomes, Human, Y ; genetics ; DNA ; blood ; genetics ; isolation & purification ; Humans ; Male ; Repetitive Sequences, Nucleic Acid ; Sequence Deletion ; Spermatozoa ; physiology

PURPOSE: Celiac disease is a common non-communicable disease with varied presentations. Purpose of this study was to find the duodeno-endoscopic features in celiac disease and to compare duodeno-endoscopic and histological findings between typical and atypical celiac disease in children. METHODS: Hospital based observational study was conducted at Sir Padampat Mother and Child Health Institute, Jaipur from June 2015 to May 2016. Patients were selected and divided in two groups- typical and atypical celiac disease based upon the presenting symptoms. Upper gastrointestinal endoscopy and duodenal biopsy was performed for serology positive patients. Results were analysed using appropriate statistical test of significance. RESULTS: Out of 101 enrolled patients, 47.5% were male. Age ranged from 1 to 18 years. Study showed that 54.5% were typical and 45.5% were atypical. Patients presenting with atypical symptoms were predominantly of older age group. On endoscopy, scalloping, mosaic pattern, reduced fold height and absent fold height; and in histology, advanced Marsh stage were significantly higher in the typical group. CONCLUSION: Awareness of atypical presentations as well as duodeno-endoscopic features may have considerable practical importance for the diagnosis of celiac disease in children. Scalloping, mosaic pattern, reduced fold height and nodularity are main endoscopic markers of celiac disease in children. Endoscopic markers of duodenal mucosa may be important in early diagnosis of celiac disease, in children subjected to endoscopy for atypical presentations or indication other than suspected celiac disease.
Biopsy ; Celiac Disease* ; Child Health ; Child* ; Diagnosis ; Early Diagnosis ; Endoscopy ; Endoscopy, Gastrointestinal ; Humans ; Male ; Mothers ; Mucous Membrane ; Observational Study ; Pectinidae ; Wetlands

PURPOSE: Urinary calcium creatinine ratio (UCaCrR) is a reliable indicator for monitoring hypercalciuria following vitamin D supplementation. However, the reference range varies from region to region. Previous studies did not take vitamin D and parathyroid hormone status into account while evaluating UCaCrR. Hence, we undertook this study to establish the 95th percentile of UCaCrR as an indicator of hypercalciuria in North Indian children and adolescents. METHODS: Four hundred seventy-three participants (boys 62.2%, girls 37.8%) with adequate dietary calcium intake, normal serum levels of 25-hydroxy-vitamin D (>20 ng/mL), and without secondary hyperparathyroidism following supplementation were selected for evaluation of UCaCrR. RESULTS: The mean age and body mass index of subjects were 11.2±2.6 years and 18.0±3.6 kg/m2, respectively. The 95th percentile of UCaCrR in the study population was 0.126. The mean, median, and 95th percentile of UCaCrR was significantly higher in prepubertal children (age ≤10 years) (0.0586±0.0374, median=0.0548, 95th percentile=0.136) compared to those >10 years old (0.0503±0.0363, median=0.0407, 95th percentile=0.123, P=0.02). No significant difference in UCaCrR was observed between genders and different weight categories. CONCLUSIONS: UCaCrR of 0.13 defines the cutoff value for hypercalciuria in North Indian children and adolescents with adequate dietary intake of calcium and sufficient serum vitamin D levels.
Adolescent ; Body Mass Index ; Calcium ; Calcium, Dietary ; Child ; Creatinine ; Female ; Humans ; Hypercalciuria ; Hyperparathyroidism, Secondary ; Parathyroid Hormone ; Reference Values ; Vitamin D