Polysomnography-guided mandibular distraction osteogenesis in Pierre Robin sequence patients.

STUDY OBJECTIVES: Craniofacial malformations with micrognathia cause high grades of obstructive sleep apnea (OSA) measured by polysomnography (PSG). Mandibular distraction osteogenesis is a novel procedure for upper airway obstruction relief. Our primary objective was to describe the utilization of PSGs to improve obstruction in patients undergoing mandibular distraction. METHODS: This is a retrospective study. Patients with micrognathia and severe upper airway obstruction, presenting with severe OSA diagnosed by PSG, were included from a single tertiary care center between 2015 and 2019. PSGs were done (1) prior to surgery, (2) once the cosmetic goal was achieved (Post-Op 1), and (3) if residual moderate-to-severe OSA was seen, every 2 nights until mild or no OSA was achieved (Post-Op 2). RESULTS: Thirteen patients were included. The median age at surgery was 1.1 months (10 days-3 months). All 13 patients had baseline severe OSA, with a median obstructive apnea-hypopnea index of 33 events/h and a median O2 nadir of 73%. Post-Op 1 PSG was done at a median of 6 days after surgery. Median first postoperative obstructive apnea-hypopnea index in all 13 patients was 6.8 events/h, with a median O2 nadir of 87%. A median additional distraction of 3 mm was needed beyond the traditionally recommended advancement. Long-term follow-up studies at or after 1 year were done in 5 patients, all showing persistent nonsevere OSA. CONCLUSIONS: This is the first case series utilizing PSGs as a guide for mandibular distraction osteogenesis in patients with micrognathia showing the need for jaw overcorrection to achieve resolution of OSA. CITATION: Kochhar R, Modi V, de Silva N, et al. Polysomnography-guided mandibular distraction osteogenesis in Pierre Robin sequence patients. J Clin Sleep Med. 2022;18(7):1749-1755.

Comparative study of clinical features of patients with celiac disease & those with concurrent celiac disease & type 1 diabetes mellitus.

BACKGROUND & OBJECTIVES: Celiac disease (CD) and type 1 diabetes mellitus (T1DM) share a common genetic locus and clinical manifestations. The present study was planned to compare clinical, biochemical and hormonal profiles of patients with CD and CD with T1DM. METHODS: Records of CD patients with age ≤20 yr, available anthropometric measurements, haematological, biochemical and hormonal workup with tissue transglutaminase IgA antibody and duodenal biopsy (Marsh grade) were screened. The patients were divided into two groups i.e., CD alone (Group A) and concurrent CD with T1DM (Group B). RESULTS: One hundred and nine patients of CD (57 male) with a mean age of 14.9±2.9 yr were evaluated. Of these, 86 (78.9%) patients had CD alone and 23 (13 females) (21.1%) patients had CD with T1DM. The age at diagnosis and the lag duration for the diagnosis of CD were 11.5±4.6 versus 13.8±3.4 yr (P<0.05) and 48.8 ±43.3 versus 20.2±31.8 months (P<0.05) in groups A and B, respectively. The most common histopathological grade was type 3b (59.2%) in group A and type 2 (42.1%) in group B. Short stature (87% vs. 40.9%; P<0.01), anaemia (80.9% vs. 45%, P<0.01) and delayed puberty (61.9% vs. 29.4%; P<0.01) were more common in group A. INTERPRETATION & CONCLUSIONS: Patients with CD alone have a longer lag time to diagnosis and consequent sequel in the form of anaemia, short stature and delayed puberty, as compared to patients with concurrent CD and T1DM.

Clinical presentation of celiac disease among pediatric compared to adolescent and adult patients.

BACKGROUND: Celiac disease (CD) is being increasingly recognized in adults though a majority of patients continue to be diagnosed in childhood. AIM: To compare the clinical presentation and profile of newly diagnosed pediatric and adolescent/adult CD patients. MATERIALS AND METHODS: Retrospective analysis of patients diagnosed with CD between year 1997 and 2007 in the pediatric group, and between year 2000 and 2007 in the adolescent/adult group was done for clinical presentation, endoscopic findings and duodenal histology. RESULTS: A total of 434 children and 298 adults were studied. The mean age of diagnosis was 6.5 ± 2.5 years (1-11 years) in children and 29.3 ± 13.3 years (6-73 years) in adolescent/adults. The mean duration of symptoms before diagnosis was 3.5 ± 2.5 years in children and 4.9 ± 4.6 years in the latter. Diarrhea as the presenting symptom was seen in 74 % of children and 58.7 % of adolescent/adults. Anemia (on investigations) was seen in 84 % of children and 94 % of adolescent/adults. CONCLUSIONS: Pediatric patients of CD present more often with typical features than adults. Atypical presentations are more common in adults and the latent period for diagnosis is also longer in adolescent/adults. There is a need for increasing awareness about CD, both among pediatricians and physicians caring for adult patients.

Prevalence of coeliac disease in healthy blood donors: a study from north India.

BACKGROUND: Blood donor screening can help predict prevalence of coeliac disease in population. METHODS: Between December 2010 and June 2011, healthy blood donors were screened using anti-tissue glutaminase antibodies. Those positive underwent duodenoscopy. Their age, gender, body mass index and haemoglobin and histological changes were recorded. RESULTS: Of the 1610 blood donors screened, 1581 (98.2%) were males. The mean age of donors was 31.51 ± 9.66 years and the mean body mass index was 22.12 ± 4.24 kg/m(2). Nine (0.56%) men were seropositive. Endoscopic features included reduced fold height (9), scalloping (8), grooving (7) and mosaic mucosal pattern (3). Eight had Marsh IIIa changes whilst one had IIIb change. The prevalence of coeliac disease was 1:179 (0.56%, 95% confidence interval 1/366-1/91, 0.27-1.1%). None of the 9 patients had any symptoms. Their mean haemoglobin and body-mass index was similar to rest of the cohort. CONCLUSION: The prevalence of coeliac disease amongst apparently healthy blood donors was 1:179 (0.56%).

Chronic calcific pancreatitis presenting as an isolated left perinephric abscess: a case report and review of the literature.

CONTEXT: Acute and chronic pancreatitis may present with pseudocysts in atypical locations. Activated pancreatic enzymes track along anatomic fascial planes causing digestion of the surrounding tissues and resulting in distant pseudocysts. Pseudocysts at atypical locations pose significant diagnostic as well as therapeutic challenges. CASE REPORT: We report an unusual presentation of a pancreatic pseudocyst in a young male who presented with a left perinephric abscess. Percutaneous drainage was not successful in resolving the abscess and he was subsequently diagnosed as having chronic pancreatitis together with a left perinephric abscess. Needle knife sphincterotomy of the ampulla of Vater resulted in the gradual resolution of the abscess. CONCLUSION: We report a rare presentation of chronic pancreatitis with a perinephric abscess and its non-surgical management. This case report indicates that any patient presenting with a perinephric abscess of unknown etiology not responding to conventional treatment modalities should be investigated for underlying pancreatitis.