Complete or incomplete intestinal obstruction by viscid faecal material in the terminal ileum and proximal colon - distal intestinal obstruction syndrome (DIOS) - is a common complication in cystic fibrosis. Estimates of prevalence range from 5 to 12 episodes per 1000 patients per year in children, with higher rates reported in adults. DIOS is mainly seen in patients with pancreatic insufficien...

This retrospective study calculated the cumulative radiation dose for children with cystic fibrosis (CF) attending a tertiary CF centre. Information on 77 children with a mean age of 9.5 years, a follow up time of 658 person years and 1757 studies including 1485 chest radiographs, 215 abdominal radiographs and 57 computed tomography (CT) scans, of which 51 were thoracic CT scans, were analysed....

OBJECTIVE To determine the relevance of screening for the F508del mutation of the cystic fibrosis transmembrane conductance regulator gene as a first step in the genetic diagnosis of cystic fibrosis (CF) by associating the genotype with various clinical variables. METHODS We evaluated 180 CF patients regarding the F508del mutation. The clinical data were obtained from the medical records of t...

Aim: To evaluate the results of the use of the T-tube ileostomy in neonatal intestinal surgery cases. Materials and Methods: A retrospective review of sixty two neonates underwent intestinal obstruction surgery by using T-tube ileostomy was conducted between January 1990 and January 2013.The pathologies of the intestinal obstruction were; thirty four of jejunoileal atresia cases, thirteen case ...

Meconium ileus is now a well recognized entity and I do not need to dwell upon it in this paper. It is not only the condition in which an abnormality of the intestinal contents causes obstruction in the neonatal period. In recent years more attention has been paid to meconium plugs as a cause of blockage (Clatworthy, Howard and Lloyd, 1956). The object of this paper is to draw attention to a th...

A 3-day-old male baby was diagnosed to have proximal small bowel atresia. At operation type-IIIa jejuno-ileal atresia (JIA) was encountered with a jumbled up sequestered bowel-loop-mass. The jejunum was 10 cm and ileum merely 1 cm. The bowel was sequestered on account of volvulus in-utero. Atresia is derived from Greek words " a " (no) and " tresis " (orifice); and refers to congenital obstruct...

BACKGROUND Small gut atresia is a common neonatal surgical problem. Early diagnosis and timely management of the neonate can reduce mortality and morbidity in these patients. The aim of this study was to note the causes of mortality and morbidity in these neonates. METHODS This was a prospective study conducted at Lady Reading Hospital (LRH) Peshawar from August 2007 to August 2009. All patie...

BACKGROUND Improved nutrition early in life is associated with better pulmonary function for patients with cystic fibrosis (CF). However, nutritional status is poorly correlated with the CFTR genotype. OBJECTIVE We investigated the extent to which modifier genes influence nutrition in children with CF. DESIGN BMI data were longitudinally collected from the CF Twin-Sibling Study and Cystic F...

It is a matter of debate as to what extent the long-term outcome of cystic fibrosis (CF) is affected by presenting with meconium ileus (MI). We compared long-term clinical outcomes of CF children who presented with MI, to those presenting with other symptoms (non-MI) in an era of non new-born-screening (NBS).We collected annual lung function data between the ages of 8-15 years in terms of perce...

X-chromosome is often excluded from the so called ‘wholegenome’ association studies due to its intrinsic difference between males and females. One particular analytical challenge is the unknown status of X-inactivation, where one of the two X-chromosome variants in females may be randomly selected to be silenced. In the absence of biological evidence in favour of one specific model, we consider...