Ritscher Schinzel syndrome or cranio-cerebello-cardiac syndrome is characterized by cardiac defects, cerebellar hypoplasia and cranial defects. It is usually inherited as autosomal recessive pattern involving chromosome 8q24. the overall prognosis vary widely and it correlates with the cardiac disease present.
Neonatal late onset hypocalcemia is the one which occurs after 72 hours of life. 1,25 (OH)2- vitamin D and Parathormone (PTH) play crucial role in regulation of calcium and phosphorus homeostasis in the body. Vitamin D helps in the absorption of calcium and phosphorus from the gut. PTH promotes absorption of calcium from thick ascending loop of henle and distal tubule whereas it increases excretion of phosphorus. During hypocalcemia, parathormone level shoot up in the body to maintain normal calcium levels. In a patient with poor resources of vitamin D, there is disturbance of Calcium, phosphorus homeostasis leading on to clinical manifestations. Exclusively breast-fed infants without vitamin D supplementation and infants born to mothers with Vitamin D deficiency are at risk to develop Hypovitaminosis D and manifest symptoms of hypocalcemia.
: IBS and IBD are two abdomen ailments commonly seen in children. IBD is a life-long disorder that includes two major forms of chronic illness UC and CD, IBS may occur when the bowel is sensitive to specific foods or other triggers like stress. The aims of the study is to investigate clinical usefulness of FC as early predictor for screening and differentiating IBD and IBS and to monitor the treatment for relapse and remission in pediatric Indian population. This was hospital based observational cohort study, conducted over a period of twelve months from January 2019 to December 2019 Total 325 patients attending OPD were included in the study, in children between 1-18years in which FC was measured using commercially available CLIA kit. HB, ESR, Hscrp were also assessed, these patients were followed up. Patients were grouped asGroup I: IBS: 115(50:65M/F), Group II: 185 IBD, had Subgroup I:116 CD(48:68M/F);Group A: 62.7% presented with relapse Group B: 37.3% had disease in remission Subgroup II: 69 patients had UC(31:38 M/F); Group A: 60.9% had relapse and Group B: 39.1% in remission after follow up. Subgroup III: Others were 25(7.7%). In Study I: Levels of FC were significantly lower in patients with group I when compared to group II. In Subgroup I & Subgroup II Group A had higher FC levels when compared to group B. In Study II: A significant difference (P<0.001) and lower values of the FC, ESR, Hs-crp, frequency of stools in IBS than in CD and UC patients were observed. In Study III: FC in IBD has positive correlation (p<0.01), with the activity of the inflammatory disorder, HB, ESR, Hs-CRP and with increased frequency of diarrhea. In Study IV Fecal calprotectin value of ≥100 ug/g was diagnostic of IBD with sensitivity of 94.1%, specificity of 82.2%, PPV of 86.32%, NPV of 80.39%. The present study showed that the determination of FC assists to differentiate between IBD and IBS also useful in monitoring of remission and in early prediction of relapse in pediatric IBD.
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