Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pulmonary sequestration is an uncommon congenital abnormality in which nonfunctioning lung tissue is supplied by an anomalous systemic artery. Both the extralobar and intralobar forms probably develop from an accessory lung bud from the primitive foregut. Both forms are situated on the left side in about two-thirds of patients. The anomalous arterial supply usually originates from the descending thoracic aorta, and there may be a large left-to-left or left-to-right shunt through the sequestration. The sequestration may have a fistulous communication with the upper gastrointestinal tract. Congenital anomalies, particularly diaphragmatic hernia, are frequently associated with the extralobar form. Intralobar sequestration occasionally is an incidental finding on roentgenograms of the chest in an asymptomatic patient; however, the disorder is usually symptomatic and the most common presentation is recurrent pulmonary infection. Presentation may be characterized by gastrointestinal symptoms, congestive heart failure, hemoptysis or hemothorax. Extralobar sequestration is usually an incidental finding on routine roentgenograms of the chest or during the management of some other congenital anomaly. Infrequently, extralobar sequestration presents with symptoms similar to those seen with the intralobar form. Roentgenograms of the chest, upper gastrointestinal series and arteriography are the most helpful diagnostic aids. The usual treatment is resection of the sequestration by removal of only the sequestration in patients with the extralobar form and by lobectomy or segmental resection in patients with the intralobar form. The reported results of operation have generally been excellent.
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PMID:Pulmonary sequestration. 36 Apr 52

Close phenotypic similarity between two cases carrying a rec(3) dup q,inv(3) (p25q21), 12 additional infants from the same inv (3)(p25q21) kindred who lived less than 1 year, and eight cases studied in other medical centers has led us to postulate the existence of a distinct chromosome 3 duplication-deletion syndrome. In the presence of trisomy for (3)q21 leads to qter and monosomy for (3)p25 leads to pter, the facial dysmorphy is unique: a distorted head shape due to irregular cranial sutures, thick low eyebrows, long eyelashes, persistent lanugo, distended veins on the scalp, hypertelorism, oblique palpebral fissures, a very short nose with a broad depressed bridge and anteverted nares, protruding maxilla, thin upper lip, micrognathia, low-set ears, and a short webbed neck. Port-wine stains, congenital glaucoma, cloudy corneas, cleft palate and harelip also occur frequently. Each infant has difficulty sucking and swallowing. Congenital anomalies of the cardiovascular system, of midgut rotation, and of the urogenital system are noted for the infants who died neonatally. Most frequent is a ventricular septal defect, followed by atrial septal defect, patent ductus arteriosus, patent foramen ovale, and coarctation of the aorta. Omphalocele, umbilical hernia, hyperplastic kidneys, polycystic kidneys, double ureter, hydro-ureter, hydronephrosis, and undescended testes often occur. The extremities are short in proportion to the length of the trunk. Clinodactyly, coxa valga, talipes, and spina bifida are frequently observed.
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PMID:Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21). 120 27

Analyses of survival data of neonates born with congenital diaphragmatic hernia (CDH) can be misleading. There is a hidden mortality only apparent when fetuses with CDH are included in the analysis. A retrospective review of all post mortems with a diagnosis of CDH in the West of Scotland over a 10-year period was carried out. Congenital anomalies were identified and heart and lung weights were compared with controls (infants dying of non-cardiorespiratory causes). 70 Pm reports were studied. Major congenital anomalies were present in 53% (18/ 47 live born, 19/23 not live born). Neural tube defects, cardiac and chromosomal anomalies were the most common. Antenatal detection rate was 17% in live-born infants. In infants dying within the first week of life lung weights showed severe pulmonary hypoplasia, but heart weights were within the normal range. Detailed antenatal scanning needs to be considered if the detection rate for CDH is to improve in this region.
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PMID:Post-mortem findings in fetal and neonatal congenital diaphragmatic hernia. 1087 76

Congenital anomalies exist all over the world. The management and outcome, however, vary considerably between the developed and the developing countries. This study looks at the impediments to the management of surgically correctable anomalies in South-east Nigeria. A prospective study was undertaken on 223 children with surgically correctable anomalies managed at the Federal Medical Center Owerri, South-east Nigeria. Most of the children (40.8 per cent) presented during infancy with overall mean age of 2.5 years (range 3 days-13 years). The anomalies encountered include: hernia (71), undescended testes (15), anorectal malformation (11), Hirschsprung's disease (9), hypospadias (8), ankyloglossia (8), thyroglossal duct remnants (7), omphalocele (6), posterior urethral valve (5), jejuno-ileal atresia (4), cystic hygroma (4), intersex (3), oesophageal atresia (2) and orthopaedic anomalies (70). 148 of these children had operative procedure as part of their management. Procedure-related complications occurred in 41 children (27.7 per cent) with haematoma (21) and surgical site infection (10) being the most common. The overall mortality was 1.8 per cent. Septicaemia, respiratory failure, pneumonia and anaesthetic complication were the cause of death. Delay in presentation, shortage of personnel and inadequate facilities were the major limitations in the management of these children. The wide range of congenital anomalies among children in the developing world poses a significant healthcare problem. This calls for provision of adequate manpower and facilities to improve outcome.
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PMID:Surgically correctable congenital anomalies: prospective analysis of management problems and outcome in a developing country. 1616 60

To identify causes of death (COD) in propositi with Cornelia de Lange syndrome (CdLS) at various ages, and to develop guidelines to improve management and avoid morbidity and mortality, we retrospectively reviewed a total of 426 propositi with confirmed clinical diagnoses of CdLS in our database who died in a 41-year period between 1966 and 2007. Of these, 295 had an identifiable COD reported to us. Clinical, laboratory, and complete autopsy data were completed on 41, of which 38 were obtainable, an additional 19 had autopsies that only documented the COD, and 45 propositi had surgical, imaging, or terminal event clinical documentation of their COD. Proband ages ranged from fetuses (21-40 weeks gestation) to 61 years. A literature review was undertaken to identify all reported causes of death in CdLS individuals. In our cohort of 295 propositi with a known COD, respiratory causes including aspiration/reflux and pneumonias were the most common primary causes (31%), followed by gastrointestinal disease, including obstruction/volvulus (19%). Congenital anomalies accounted for 15% of deaths and included congenital diaphragmatic hernia and congenital heart defects. Acquired cardiac disease accounted for 3% of deaths. Neurological causes and accidents each accounted for 8%, sepsis for 4%, cancer for 2%, renal disease for 1.7%, and other causes, 9% of deaths. We also present 21 representative clinical cases for illustration. This comprehensive review has identified important etiologies contributing to the morbidity and mortality in this population that will provide for an improved understanding of clinical complications, and management for children and adults with CdLS.
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PMID:Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. 2206 64

Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affects multiple organs. It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirsutism. Congenital anomalies include malformations of the upper limbs, gastrointestinal malformation/rotation, pyloric stenosis, diaphragmatic hernia, heart defects and genitourinary malformations. Gastroesophageal reflux disease is present in almost all patients. In addition to classic forms, milder phenotypes have been reported. To date five genes [NIPBL (Nipped-B-like protein), SMC1A (structural maintenance of chromosomes 1A), SMC3 (structural maintenance of chromosomes 3), RAD21 (human homolog of Schizosaccharomyces pombe radiation sensitive mutant 21) and HDAC8 (histone deacetylase 8)] have been associated with CdLS and mutations of these genes comprise the underlying defect in 70% of the patients. Here, we will provide a brief review of the clinical features of CdLS, summarize the known underlying genetic defects, prenatal and postnatal diagnosis possibilities, and genetic counseling.
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PMID:Cornelia de Lange syndrome. 2580

Bochdalek hernia (BH) is an uncommon form of diaphragmatic hernia. The rarity of this hernia and its nonspecific presentation leads to delay in the diagnosis, with the potential risk of complications. This review summarizes the relevant aspects of its presentation and management, based on the present evidence in the literature. A literature search was performed on PubMed, Google Scholar, and EMBASE for articles in English on BH in adults. All case reports and series from the period after 1955 till January 2015 were included. A total of 180 articles comprising 368 cases were studied. The mean age of these patients was 51 years (range 15-90 years) with a male preponderance of 57% (211/368). Significantly, 6.5% of patients were above 70 years, with 3.5% of these being above 80 years. The majority of the hernias were on the left side (63%), with right-sided hernias and bilateral occurring in 27% and 10%, respectively. Precipitating factors were noted in 24%, with 5.3% of them being pregnant. Congenital anomalies were seen in 11%. The presenting symptoms included abdominal (62%), respiratory (40%), obstructive (vomiting/abdominal distension; 36%), strangulation (26%); 14% of them were asymptomatic (detected incidentally). In the 184 patients who underwent surgical intervention, the surgical approach involved laparotomy in 74 (40.27%), thoracotomy in 50 (27.7%), combined thoracoabdominal approach in 27 (14.6%), laparoscopy in 23 (12.5%), and thoracoscopic repair in 9 (4.89%). An overall recurrence rate of 1.6% was noted. Among these patients who underwent laparoscopic repair, 82% underwent elective procedure; 66% underwent primary repair, with 61% requiring interposition of mesh or reenforcement with or without primary repair. The overall mortality was 2.7%. Therefore, BH should form one of the differential diagnoses in patients who present with simultaneous abdominal and chest symptoms. Minimal access surgery offers a good alternative with short hospital stay and is associated with minimum morbidity and mortality.
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PMID:Laparoscopic Repair of Bochdalek Diaphragmatic Hernia in Adults. 2704 3

Congenital anomalies of the male urogenital tract include a variety of structural abnormalities. These abnormalities could affect either the male external genitalia, internal genitalia or both. Congenital anomalies of the vas deferens are rare and may include unilateral or bilateral (agenesis, atresia, duplication, ectopy or diverticulum) that could be complete or segmental. In addition, they may be isolated anomalies of the vas deferens or may be associated with other congenital anomalies elsewhere especially in the male urogenital tract. Those anomalies may be discovered during genital examination (either clinically or radiologically) or even during inguinal surgeries as in hernia repair, vasectomy, orchiopexy and varicocelectomy. Thus, proper evaluation should be made for the cases of duplicated vas deferens to avoid the accidental injury during the operation and to exclude other associated congenital anomalies. Besides that, the undiagnosed cases may lead to failure of vasectomy procedure. Here, we report a case of duplication of the vas deferens in a 33-year-old male that was accidentally discovered during spermatic cord dissection for varicocelectomy.
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PMID:A rare case of duplicated vas deferens discovered accidentally during varicocelectomy. 3001 58