Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

During the last decade neonatal surgical results have improved considerably. Except for infants born with serious congenital heart disease, diaphragmatic hernia or exomphalos, postoperative mortality rates for infants with single anomalies have fallen to the region of 10%. This dramatic success story has been marred by a corresponding increase in the number of individuals with several anomalies entering late childhood with severe chronic handicaps. During the remainder of this century much effort will be expended in devising programmes of investigation which will attempt to predict which individuals will have a poor long-term prognosis. Such programmes will necessitate very close liaison between obstetricians, radiologists, neonatologists, local paediatricians, paediatric surgeons, general practitioners and parents. Very urgent surgery is necessary for the best results in infants with gastroschisis, intestinal volvulus and irreducible inguinal hernia, but for most other conditions there have been recent trends away from very urgent surgery to operation during daylight hours within the ensuing 24 h. Surgery within a few hours of presentation is necessary for intussusception and for early acute appendicitis, but perforated appendicitis should be treated by aggressive fluid replacement and intravenous antibiotics and surgery should be contemplated only in the rare cases of continued deterioration.
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PMID:Paediatric emergencies. 176 28

Situs inversus (SI) complicating neonatal bowel obstruction presents a challenging complex, and to facilitate rational decision making for treatment, we have reviewed 23 cases of abdominal SI seen in our hospital over the last 25 years. Preoperative roentgenographic studies most always predicted SI, the specific patient groups including: 12 abdominal SI with dextrocardia, 10 abdominal SI with levocardia, and 1 with partial heterotaxia. Major intraabdominal anomalies produced surgical emergencies in 7 neonates in the first year, 6 of these 7 being in the first month of life. In these 7 patients, multiple anomalies occurred including 1 child with a rotational anomaly with reversible ischemia secondary to midgut volvulus, and 4 with a rotational anomaly without volvulus, all being treated with a modified Ladd procedure. One of these children had an unrecognized intraluminal duodenal membrane, 1 an operatively diagnosed intraluminal membrane, 1 had annular pancreas, and 1 had a discontinuous jejunal atresia. A preduodenal portal vein was present in 4 of the 7 children, a branch being divided in 1 and the full vein bypassed in 2 of the other 3 patients. Two patients had biliary atresia, one of whom also had a diaphragmatic hernia. Five of the 7 neonates had associated major congenial heart disease accounting for 2 of the 3 deaths in this series. This review emphasizes the protean nature of abdominal SI, especially as it may cause or contribute to neonatal intestinal obstruction; and it is this understanding which is a prerequisite to optimal operative management.
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PMID:Situs inversus: the complex inducing neonatal intestinal obstruction. 666 1

Intestinal rotation abnormality (IRA) predisposes to lethal midgut volvulus. An understanding of intestinal development illustrates the process of normal intestinal rotation and fixation. An appreciation of the clinical presentation and consequences of missed IRA will enhance clinical suspicion and timely evaluation. Selecting the appropriate imaging modality to diagnose IRA requires an understanding of the benefits and limitations of each. The Ladd's procedure continues to be the appropriate surgical treatment for IRA with or without volvulus. Laparoscopy has emerged as an option for the diagnosis and treatment of IRA. Populations in which IRA is always associated, but a Ladd's procedure rarely required, include patients with congenital diaphragmatic hernia and abdominal wall defects. Prevalence of IRA is higher in children with congenital heart disease and heterotaxy syndrome; asymptomatic patients require multidisciplinary consideration of the risks and benefits of screening for IRA, whether a Ladd's procedure is required, and the timing thereof. [Pediatr Ann. 2016;45(7):e247-e250.].
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PMID:Intestinal Rotation Anomalies. 2740 72

Alagille Syndrome (ALGS) is a rare autosomal dominant disorder that affects multiple organ systems. Cholestasis as a result of a paucity of intrahepatic bile ducts and congenital heart defects are the two most common features of ALGS. We describe a case of ALGS with novel mutations of JAG1 and NOTCH2 genes in a newborn girl with complex congenital heart disease, bilateral dysplastic kidneys, and malrotation with volvulus.
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PMID:Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome. 2846 53

Ischemic colitis (IC) associates with older age, hypertension, and heart disease, among others. Young-onset IC is rare. We aimed to delineate clinical characteristics of young patients (<40 years) with IC. Cases from 1984 to 2017 were re-reviewed. Of the 60 cases available, 52% (n = 31) had histologic features of IC. Fifty-five percent were female with a mean age of 32 (range = 14-40) years. Fifty-eight percent (n = 18) were resections. The most common presentations were diarrhea and abdominal pain. Three teenagers had IC associated with prior surgery, volvulus, and constipation. In the 21- to 40-year group, 43% (n = 12) lacked clinical associations. A second subset (n = 6, 21%) had histories of immune dysregulation (lupus, dermatomyositis, vasculitis) and poorly controlled HIV/AIDS (n = 5, 18%). Smoking and cocaine were endorsed by 1 and 2 patients, respectively. One patient had premature atherosclerosis while another had HMG Co-A lyase deficiency. Vasculitis was identified in 22% of the resections and in none of the biopsies. Nineteen percent of patients died (n = 6) from complications of IC, all treated surgically, including 1 patient previously misdiagnosed as ulcerative colitis; 2 patients died of unrelated causes. While rare before 20 years of age, IC in teenagers relates to mechanical issues and is rare in children. Associations in young adults include immune dysregulation, cocaine and cigarette use, and premature atherosclerosis. Our retrospective cohort had a surgical mortality rate within the range reported by others, highlighting the importance of accurate diagnosis in young individuals.
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PMID:Young-Onset Ischemic Colitis: A Condition of Elusive Etiology Frequently Associated With Immune Dysregulation. 3187 Feb 9