Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0042961 (volvulus)
 4,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A number of disorders in childhood can result in short-bowel syndrome (small bowel length, less than 100 cm). Improved care has increased survival in patients with short-bowel syndrome, but the quality-of-life factors associated with such improved survival have not been examined, to our knowledge. Sixteen consecutive pediatric patients with short-bowel syndrome (bowel length range, 22 to 98 cm) were followed up for 2 to 10 years. The original diagnoses were as follows: necrotizing enterocolitis (n = 6), multiple intestinal atresias (n = 4), extensive aganglionosis (n = 2), meconium peritonitis (n = 2), and midgut volvulus (n = 2). The range of initial hospitalization was from 62 to 395 days, and 13 of 16 patients have required readmission (two to 14 times). All patients required multiple operations (range, two to 14 operations), including combinations of venous access, adhesiolysis, tapering enteroplasty, reversed intestinal segments, and pull-through procedure. Nine of 16 patients received home total parenteral nutrition, and 12 of 16 patients required home elemental diets, usually via pump feedings. Fifteen patients (94%) survived. Two survivors are deaf, and one of these has mild developmental delay. Seven survivors (age range, 6 to 10 years) attend a regular school, four while receiving total parenteral nutrition or an elemental diet. Ten of 15 survivors are off all nutritional support (including the child with a 22-cm small bowel), with four others weaning. The presence or absence of an ileocecal valve did not affect outcome. Modern nutritional support methods provide excellent survival and quality of life for children with short-bowel syndrome.
 ...
PMID:Short-bowel syndrome in children. Quality of life in an era of improved survival. 190 3

X-linked alpha thalassemia mental retardation (ATR-X) syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities, and alpha thalassemia. Patients with ATR-X syndrome frequently present with gastrointestinal problems, in particular feeding difficulties, regurgitation and vomiting, abdominal pain, distension, and chronic constipation. Parental reports of prolonged food refusal and distress in these children are common and although these episodes are suspected to be gastro-intestinal in origin they are rarely investigated. Death in early childhood from aspiration of vomitus or from pneumonia presumed to be secondary to aspiration has been recorded in a number of ATR-X cases. In this report we review the gastrointestinal phenotype of ATR-X syndrome in 128 cases. We also demonstrate that in two siblings, regurgitation was secondary to gastric pseudo-volvulus, a condition in which the stomach does not have a normal system of peritoneal ligaments and changes position with possible torsion around itself. Furthermore, ultra-short Hirschsprung disease with colonic hypoganglionosis was shown and this may contribute to the severe constipation affecting these children.
 ...
PMID:Gastrointestinal phenotype of ATR-X syndrome. 1668 41

Cecal volvulus is uncommon in pediatric patients and there are few reports of cecal volvulus with cerebral palsy. Here, we report the case of a 19-year-old male patient who presented with abdominal distension, a history of cerebral palsy, refractory epilepsy due to lissencephaly, and chronic constipation. An abdominal x-ray and computed tomography without contrast enhancement showed fixed dilated bowel intensity in the right lower abdomen. Despite decompression with gastric and rectal tube insertion, symptoms did not improve. The patient underwent an exploratory laparotomy that revealed cecal volvulus. Cecal volvulus usually occurs following intestinal malrotation or previous surgery. In this patient, however, intestinal distension accompanying mental disability and chronic constipation resulted in the development of cecal volvulus. We suggest that cecal and proximal large bowel volvulus should be considered in patients presenting with progressive abdominal distension combined with a history of neuro-developmental delay and constipation.
...
PMID:A case of cecal volvulus presenting with chronic constipation in lissencephaly. 2401 Jan 18

Pica is characterized by the persistent eating of non-nutritive substances over some time that is inappropriate for the maturation stage of the individual and is not culturally sanctioned. A 9-year-old boy with Goldenhar syndrome, significant developmental delay and pica, collapsed and died after a short history of diarrhea and vomiting. Death was due to a sigmoid volvulus resulting from filling of the distal colon with feces containing dirt, stones, and rice with evidence of ischemic intestinal necrosis. Lethal complications of pica include intestinal obstruction and perforation with peritonitis and generalized sepsis. Other findings at autopsy may include airway obstruction, heavy metal poisoning, and parasitic infestation. Presenting symptoms and signs of such complications may be subtle or masked given the nature of underlying conditions, and so careful evaluation of the medical histories of individuals with pica may be necessary to provide pertinent details of associated medical and psychiatric conditions.
...
PMID:A review of the forensic implications of pica. 2497 10

We investigated seven children from six families to expand the phenotypic spectrum associated with an early infantile epileptic encephalopathy caused by biallelic pathogenic variants in the phosphatidylinositol glycan anchor biosynthesis class Q (PIGQ) gene. The affected children were all identified by clinical or research exome sequencing. Clinical data, including EEGs and MRIs, was comprehensively reviewed and flow cytometry and transfection experiments were performed to investigate PIGQ function. Pathogenic biallelic PIGQ variants were associated with increased mortality. Epileptic seizures, axial hypotonia, developmental delay and multiple congenital anomalies were consistently observed. Seizure onset occurred between 2.5 months and 7 months of age and varied from treatable seizures to recurrent episodes of status epilepticus. Gastrointestinal issues were common and severe, two affected individuals had midgut volvulus requiring surgical correction. Cardiac anomalies including arrythmias were observed. Flow cytometry using granulocytes and fibroblasts from affected individuals showed reduced expression of glycosylphosphatidylinositol (GPI)-anchored proteins. Transfection of wildtype PIGQ cDNA into patient fibroblasts rescued this phenotype. We expand the phenotypic spectrum of PIGQ-related disease and provide the first functional evidence in human cells of defective GPI-anchoring due to pathogenic variants in PIGQ.
 ...
PMID:Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. 3258 8