Incidence and risk factors of parenteral nutrition-associated cholestasis in Omani neonates single centre experience

Parenteral nutrition-associated cholestasis [PNAC] is one of the most challenging complications of prolonged parenteral nutrition [PN] in neonates. There is a lack of research investigating its incidence in newborn infants in Oman and the Arab region. Therefore, this study aimed to assess the incidence of PNAC and its risk factors in Omani neonates. This retrospective study took place between January and April 2014. All neonates who received PN for >/=14 days during a four-year period [June 2009 to May 2013] at the neonatal intensive care unit [NICU] in Sultan Qaboos University Hospital, Muscat, Oman, were enrolled. A total of 1,857 neonates were admitted to the NICU over the study period and 135 neonates [7.3%] received PN for >/=14 days. Determining the incidence of PNAC was only possible in 97 neonates; of these, 38 [39%] had PNAC. The main risk factors associated with PNAC were duration of PN, duration of enteral starvation, gastrointestinal surgeries, blood transfusions and sepsis. Neonates with PNAC had a slightly higher incidence of necrotising enterocolitis in comparison to those without PNAC. This study found a PNAC incidence of 39% in Omani neonates. There were several significant risk factors for PNAC in Omani neonates; however, after logistic regression analysis, only total PN duration remained statistically significant. Preventive strategies should be implemented in NICUs so as to avoid future chronic liver disease in this population

Prevalence of hepatitis C among multi-transfused thalassaemic patients in Oman single centre experience

Regular blood transfusions are essential for patients with thalassaemia major. However, infections with hepatotropic viruses remain a major concern. The objective of this study was to evaluate the prevalence and characteristics of hepatitis C viral [HCV] infection among patients with homozygous beta thalassaemia in a single centre in Oman. A retrospective chart review of 200 patients treated at the Thalassemia Unit of Sultan Qaboos University Hospital [SQUH] in Muscat, Oman, between August 1991 and December 2011 was performed. Relevant demographic and clinical characteristics were collected, including age, gender, HCV status and the presence of endocrinopathies. A total of 81 patients [41%] were found to be anti-HCV-antibody [anti-HCV]-positive. HCV ribonucleic acid tests were performed on 65 anti-HCV-positive patients and were positive among 33 [51%]; the remaining 16 patients died before these tests were available. Anti-HCV-positive patients were significantly older than anti-HCV-negative patients [P <0.001] and were more likely to be diabetic than anti-HCV-negative patients [27% versus 8%; P <0.001]. A total of 100 patients had been transfused before they were transferred to SQUH in 1991; of these, 70 [70%] were anti-HCV-positive. Only 11 [11.5%] of the 96 patients who were seronegative in 1991, or who were transfused later, became seropositive. It is likely that the high prevalence of HCV among multi-transfused thalassaemic patients in Oman is due to blood transfusions dating from before the implementation of HCV screening in 1991 as the risk of HCV-associated transfusions has significantly reduced since then. Additionally, results showed that anti-HCV-positive patients were more likely to be diabetic than anti-HCV-negative patients

Novel mutation in Wolcott–Rallison syndrome with variable expression in two Omani siblings

Wolcott-Rallison syndrome [WRS] is an autosomal recessive disease, characterized by neonatal or early-onset non-autoimmune insulin-dependent diabetes. WRS, although rare, is recognized to be the most frequent cause of neonatal-onset diabetes. The majority of reported patients are from consanguineous families. Several mutations with variable expression of the syndrome are reported. Here we describe a six-year-old boy with WRS who was evaluated at Sultan Qaboos University Hospital and was found to have a novel homozygous nonsense mutation in the EIF2AK3 gene. His younger sister also had WRS but with milder expression. The mutation exhibited different clinical characteristics in the siblings proving that WRS patients phenotypic variability correlates poorly to genotype. This is the first case report of two Omani children with WRS and a report of a novel mutation

Characteristics of hepatitis B infection in a sample of Omani patients

This study aimed to describe the demographic and virological characteristics of chronic hepatitis B virus [HBV] infection in a sample of Omani patients, and indirectly assess the efficacy of hepatitis B vaccination programmes and catch-up strategies. A retrospective study was undertaken of all patients with chronic HBV infections evaluated and followed-up at the Hepatology Clinic of the Armed Forces Hospital [AFH], Muscat, Oman, between January 2009 and April 2011. A total of 154 patients met the inclusion criteria. The mean age of infected patients was 33 years with 72.7% being over 27 years. Females constituted 47.7% of the patients. Half of the cohort was referred either from the AFH's Obstetric Clinic [29.2%] or its Blood Bank [22.1%]. A family history of chronic HBV infection was present in 70% of patients. A total of 95% had positive hepatitis B surface antigens, while only 5% had isolated total hepatitis B core antibodies. Most patients [96%] were hepatitis B e-antigen-negative. The majority [77.9%] had low HBV dioribonucleic acid levels of <2,000 IU/ml. Radiological features of liver cirrhosis were observed in 5%. Patients requiring treatment were in the minority [9%]. Almost 50% of the infected patients were female, the majority being of childbearing age. Medical authorities in Oman should consider enforcing a screening policy for all pregnant women using complete hepatitis B serological testing

Infantile systemic hyalinosis: a case report with a novel mutation

Infantile Systemic Hyalinosis [ISH] [OMIM 236490] is a rare, progressive and fatal autosomal recessive disorder characterized by multiple subcutaneous skin nodules, gingival hypertrophy, osteopenia, joint contractures, failure to thrive, diarrhea with protein losing enteropathy, and frequent infections. There is diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle and endocrine glands. It is caused by mutations in the ANTXR2 [also known as CMG2] gene, which encodes a transmembranous protein involved in endothelial development and basement membrane-extracellular matrix assembly. We describe a child with classical features of ISH presenting in infancy with severe chronic debilitating pain and progressive joint contractures. The diagnosis was confirmed by molecular DNA sequencing of ANTXR2 gene which revealed a novel homozygous mutation not previously reported; 79 bp deletion of the entire exon 11 [c867_945del, p.E289DfsX22]. Although this is the first reported case of ISH in Oman, we believe that the disease is under-diagnosed since children affected with this lethal disease pass away early in infancy prior to establishing a final diagnosis

Prevalence of celiac disease in Omani children with type 1 diabetes mellitus: a cross sectional study

Published studies on the prevalence of celiac disease in type 1 diabetes mellitus from the Arab World are scant. We aim to report the prevalence of celiac disease in Omani children with type 1 diabetes mellitus. Children with type 1 diabetes mellitus were prospectively screened for celiac disease, at Sultan Qaboos University Hospital, Muscat, Oman over a period of one year [June 2011 - May 2012]. Serum anti tissue transglutaminase IgA, endomysial IgA antibodies and total IgA were measured for screening of celiac disease. Children with positive anti-tissue transglutaminase and/or endomysial IgA antibodies underwent endoscopy. A total of 103 children with type 1 diabetes mellitus were initially included. Ten patients were lost to follow up. Ninety-three patients aged 2-17 years underwent screening for celiac disease. Sixteen patients had positive anti-tissue transglutaminase [17%]. Fourteen patients underwent endoscopy with duodenal biopsies, while two were lost to follow-up. Five patients with positive anti-tissue transglutaminase had intestinal biopsy proven celiac disease. The prevalence of celiac disease is 5.5% in our cohort of children and adolescents with type 1 diabetes mellitus. The prevalence of celiac disease in Omani children and adolescents with type 1 diabetes mellitus is similar to the World's reported prevalence, but is less than that reported for Middle Eastern Arab children. To our knowledge, this is the first reported study on the prevalence of celiac disease in Omani children with type 1 diabetes mellitus

Diagnosis of microvillous inclusion disease: a case report and literature review with significance for Oman

Microvillous Inclusion Disease [MVID] is one of the congenital diarrheal disorders [CDD] caused by genetic defects in enterocyte differentiation and polarization. Its prevalence is higher in countries with a high degree of consanguinity. It causes severe, intractable secretory diarrhea leading to permanent and definitive intestinal failure with resultant dependency on parenteral nutrition [PN]. Small bowel transplantation is the only curative treatment. The gold standard for diagnosis are the typical morphological abnormalities in small bowel biopsies on light and electron microscopy [EM]. In recent times, histochemistry and immunohistochemistry have shown sufficient diagnostic accuracy replacing EM if the facility is unavailable or EM findings are inconclusive. We describe a neonate with CDD who was diagnosed to have MVID on the duodenal biopsy by morphohistochemical and immunophenotypic methods used for the first time in Oman. By utilizing such easy and accessible diagnostic methods, a rare genetic disorder could be diagnosed with certainty and the family could be counseled accordingly. With a high degree of consanguinity in the region, the prevalence of MVID in Oman needs to be identified once these patients are diagnosed by utilizing appropriate investigations. Care of such patients necessitates improving current parenteral nutrition services and addressing the future need for small bowel transplantation [SBTx], in Oman