Objective:To determine clinical features and relevant laboratory investigations of patient with celiac disease (CD) and comparing classical celiac disease (CCD) with Non-diarrheal celiac disease (NDCD).Methods:This is a five years retrospective study conducted at The Aga Khan University Hospital Karachi, Pakistan from January 2010 to December 2015, enrolling children from one year to 15 years of either gender diagnosed as celiac disease in accordance with revised ESPGHAN criteria. Biopsy samples with grade 2 or more on Modified Marsh Classification were considered as consistent with celiac disease. Celiac patients were categorized into Classical celiac disease (with Chronic Diarrhea) and non-diarrheal celiac disease (Atypical celiac) and their clinical features and relevant laboratory investigations were documented.Results:Total 66 patients were selected with celiac disease according to inclusion criteria, 39 (59.09%) patients were labeled as CCD and 27 (40.91%) patients were labeled as NDCD. Marsh grading 3a and above were more marked in CCD as compared to NDCD. Mean titer for Tissue transglutaminase antibodies (TTG) were higher in CCD group in comparison to NDCD group. In CCD, the most common clinical presentations were abdominal distension whereas in NDCD, the most remarkable features were recurrent abdominal pain (62.9%). Frequency of failure to thrive is significantly high in CCD (82.05%) but patients merely with short stature were more common in NDCD (33.3%). Refractory anemia was present in 66.6% patients in NDCD group and 41.1% patients in CCD group. 74.3% patients in CCD group were vitamin D deficient whereas 85% patient had vitamin D deficiency in NDCD group (p= 0.03).Conclusion:NDCD is not uncommon in our population. Recurrent abdominal pain, failure to thrive or patients only with short stature and refractory anemia are prominent features in NCDC group whereas abdominal distension, failure to thrive and recurrent abdominal pain were noticeable features in CCD. High grade histopathology and raised antibodies titer is hallmark of CCD. Vitamin D deficiency is almost equally present in both groups.

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The goal of this study was to estimate the proportion and causes of potentially preventable mortality among critically ill children admitted to the pediatric intensive care unit (PICU). Methods The medical records of all patients who died in the PICU (age range: one month to 16 years) between January 2014 and December 2015 were evaluated by two independent reviewers to determine whether there had been any delayed recognition of deteriorating conditions, delayed interventions, unintentional/unanticipated harm, medication errors, adverse reactions to transfusions, and hospitalacquired infections that could have resulted in unanticipated death. Preventability was labeled on a 6-point scale. Results During the study period, 92 of 690 patients did not survive [median age: 60 months, interquartile range (IQR): 114]. The median Pediatric Risk of Mortality (PRISM) III score was 17 (IQR: 6). Major diagnostic categories included sepsis (n = 29, 35%), central nervous system diseases (n = 16, 17%), oncological/hematological diseases (n = 6, 6%), cardiac diseases (n = 4, 4%), and miscellaneous conditions. None of the deaths had definitive or strong evidence of preventability. Four (4.3%) patients were in category 4 (i.e., possibly preventable, >50/50 chance), 15 (16.3%) in category 3 (possibly preventable, <50/50 chance), 28 (30.4%) had some evidence of preventability, and 45 (49.0%) were labeled as definitely not preventable. Late identification (diagnostic error) of the worsening condition in four (21.0%) patients, slow intervention in six (31.6.0%), and hospital-acquired infections in 10 (52.6%) were found to be related to potentially preventable mortality. Conclusions Preventable diagnostic errors and nosocomial infections (NIs) are major contributors to preventable mortality. Structured mortality analysis provides actionable information for future preventive strategies. Improvement in care processes, including clinical decision support systems, could help reduce preventable mortality rates.

Introduction: Neonatal diabetes is a rare disease with incidence estimated at 1 in 300,000 to 1 in 400,000 live births. Walcott-Rallison syndrome has been identified as the most common cause of permanent neonatal diabetes in consanguineous families caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3), characterized by permanent neonatal diabetes associated with liver dysfunction, multiple epiphyseal dysplasia, and developmental delay. We herein report 3 cases of genetically proven Wolcott-Rallison syndrome with variable phenotype presentation. Case series: All cases presented with high glucose levels and were treated with insulin. EIF2AK3 homozygous mutation was identified in all 3 on genetic analysis. Initial screening testing for associated comorbidities was normal, including X-ray examination, which did not show any signs of epiphyseal dysplasia in all cases. Case 2 and case 3 were both lost to follow-up and were later found to have expired at the ages of 18 months and 2 years, respectively, due to liver failure associated with intercurrent respiratory illness in hospitals in their native towns. Case one is now 2 years old on regular follow-up in paediatric Endocrine and neurology clinics and doing well so far. Conclusions: Morbidity, as well as mortality, is high among children with WRS neonatal diabetes. It is crucial to screen for gene mutation in patients with diabetes diagnosed before 6 months. Close therapeutic monitoring is recommended in WRS because of the risk of acute episodes of hypoglycaemia and ketoacidosis.

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