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

A retrospective anatomical, family, and epidemiological study was made of 143 patients (81 female and 62 male) with diaphragmatic hernia who were born in the south-west of England between 1943 and 1974. Thirty-nine cases were stillborn. Seventy-five per cent of patients had a left-sided diaphragmatic defect, 22% had a right-sided defect, and 3% had a bilateral defect. Fifty per cent of the patients had other congenital malformations, most frequently of the nervous system. No maternal age or birth order effect was noted. Cases of diaphragmatic hernia without other malformations had in general a normal fetal growth rate. Eight per cent of the cases were illegitimate. There were two pairs of twins discordant for diaphragmatic hernia, one pair being dizygotic and the other monozygotic. In no case of diaphragmatic hernia was there a relative affected with a diaphragmatic hernia. The most common type of diaphragmatic defect was a posterolateral hernia (92%), followed in frequency by an eventration of the diaphragm (5%), the least common defect being a retrocostosternal hernia (2%). Diaphragmatic hernia appears to be aetiologically as well as anatomically heterogeneous. In this series there were two cases of trisomy 18, one case of trisomy 21, one case trisomic for a small part of chromosome 20, and two cases with the Pierre Robin syndrome. It seems likely that diaphragmatic hernia is a non-specific consequence of several teratological processes.
 ...
PMID:Diaphragmatic hernia in the south-west of England. 95 74

From 1958 to March 1987 we corrected 704 patients with pectus excavatum. The condition occurred more frequently in boys (544 patients) than girls (160 patients). In the majority of patients (86%), the defect was evident at birth or within the first year of life. Musculoskeletal abnormalities were identified in 133 patients (scoliosis, 107; kyphosis, 4; myopathy, 3; Poland's syndrome, 3; Marfan's syndrome, 2; Pierre Robin syndrome, 2; prune belly syndrome, 2; neurofibromatosis, 3; cerebral palsy, 4; tuberous sclerosis, 1; and congenital diaphragmatic hernia, 2). Sixteen patients had associated congenital heart disease. A family history of chest wall deformity was present in 37% of the cases and a history of scoliosis in 11%. Surgical correction was performed using a uniform technique for bilateral subperichondrial resection of the deformed costal cartilages and sternal osteotomy resecting a wedge of the anterior cortex and fracturing the posterior cortex. Anterior displacement was maintained with silk sutures closing the osteotomy defect. In 28 early cases, the sternum was secured by intramedullary fixation with a Steinman pin. All repairs were completed with a low complication rate (4.4%; pneumothorax, 11; wound infection, 5; wound hematoma, 3; wound dehiscence, 5; pneumonia, 3; seroma, 1; hemoptysis, 1; hemopericardium, 1). Six complications were associated with Steinman pin fixation (hemoptysis, seroma, hemopericardium, pneumothorax, 3). Major recurrence occurred in 17 patients (2.7%) and led to revision in 12. Satisfactory long-term results were achieved in the remaining 687 patients, with follow-up ranging from 2 weeks to 27 years. Mean follow-up was 4.3 years.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Surgical repair of pectus excavatum. 320 60

The Museum Vrolik collection of the Department of Anatomy and Embryology of the Academic Medical Center, University of Amsterdam, founded by Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), consists of more than 5,000 specimens of human and animal anatomy, embryology, pathology, and congenital anomalies. Recently, the collection of congenital anomalies, comprising 360 specimens, was recatalogued and redescribed according to contemporary morphogenetic views. The original descriptions, if preserved, were compared with the clinical, radiographical, and magnetic resonance imaging findings. In 120 specimens the following midline anomalies, primary field defects, and sequences were diagnosed: holoprosencephaly sequence; aprosencephaly/atelencephaly; cleft lip; Pierre Robin sequence; omphalocele; diaphragmatic hernia; ectopic heart; bladder exstrophy; cloacal exstrophy; caudal dysgenesis; prune belly sequence; sirenomelia; fetal akinesia sequence; and disruption sequences. Polytopic field defects and associations were diagnosed in 25 specimens. We discuss the opinions of Gerardus and Willem Vrolik, who tried to find reasonable explanations for the dysmorphogenetic entities they investigated, rather than accepting the traditional superstitions.
 ...
PMID:Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. III: primary field defects, sequences, and other complex anomalies. 980 Sep 11

3865 consecutive newborns delivered between 2/1/91 and 7/31/93 were prospectively studied. All the neonates received a physical examination during the first 24 hours of life. Major congenital anomalies (MCA) were found in 64 newborns at incidence of 16.5/1000 births. 61 patients with full description included 40 with single and 21 with multiple MCA. Out of the latter 2 had syndromal (Osteogenesis Imperfecta and Achondroplasia), 16 nonsyndromal and 3 sequence multiple (Pierre Robin, diaphragmatic hernia with dextrocardia and breech presentation sequence) malformations. Skeletal anomalies were leading among the group (46.29%), followed by genitourinary (GU) defects (12.14%) and neural tube fusion defects (NTFD) (11.21%). Incidence of low birth weight (LBW) was 6% among the studied group of newborns and 26.56% among the group with MCA. Incidence of MCA among the group of LBW was 7.32%. While 65.62% of cases were amenable to surgery the malformed infants formed 24.34% of all perinatal death suggesting that improved care given to these patients will appreciably participate in reducing perinatal mortality. Incidence of NTFD (3.10/1000 births) was higher than in many western and middle eastern reports suggesting the need for further testing for incidence and etiology. Among the malformed infants, the rate of low birth weight and the rate of parental first cousin consanguinity were significantly higher than corresponding rates among normal infants in a control group.
 ...
PMID:Major congenital malformations presenting in the first 24 hours of life in 3865 consecutive births in south of Beirut. Incidence and pattern. 1034 59

A female infant with respiratory embarrassment due to external compression of the tracheobronchial tree by the thymus is presented. After successful intrauterine drainage of pleural effusions, she was born with a diaphragmatic hernia and Pierre Robin sequence, which required long-term mechanical ventilation and several surgical interventions, including tracheostomy, until she breathed spontaneously. At age 7 months, she was rehospitalized in respiratory failure because of pneumonia. At this time, thymus hyperplasia was first diagnosed, which had caused tracheobronchomalacia and displacement of the tracheobronchial tree. Weaning from the ventilator was unsuccessful for 8 weeks. She underwent thymectomy, following which impairment of breathing resolved immediately. Different manifestations of thymus enlargement and their relation to impaired breathing are discussed.
 ...
PMID:Airway compression following thymus hyperplasia in an infant with Pierre Robin sequence and congenital diaphragmatic hernia. 1174 52

Respiratory distress due to either medical or surgical causes occurs commonly in neonates. It is the most common cause of admission to a neonatal surgical intensive care facility in a tertiary care hospital. The distress can be caused by a variety of clinical conditions; common conditions treated in medical intensive care units are transient tachypnea of the new born, respiratory distress syndrome, pulmonary air leak and pneumothorax. In surgical causes of respiratory distress in neonates the underlying mechanisms include airway obstruction, pulmonary collapse or displacement and parenchymal disease or insufficiency; the common causes are congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, congenital lobar emphysema and esophageal atresia with or without tracheo-esophageal fistula. Obstructive lesions of the new born airway include choanal atresia, macroglossis, Pierre-Robin syndrome, lymphangioma, teratoma or other mediastinal masses, cysts, subglottic stenosis and laryngo tracheomalacia. Imaging plays a very major role in the pre-operative diagnosis of these conditions and proper pre-operative resuscitation helps in improving the results of surgery dramatically.
 ...
PMID:Respiratory distress in neonates. 1597 26

Coffin-Siris syndrome (CSS) is a clinically and genetically heterogeneous developmental disorder, linked to disruption of the BAF chromatin-remodeling complex. Recently, de novo missense and truncating variants have been reported in DPF2 in patients sharing some of the common features of CSS. Here we report a further individual harboring a novel de novo missense DPF2 variant, c.1066T>G, p.Cys356Gly. Structural modeling indicated that the predicted amino acid substitution affects a core residue required for zinc ion coordination and would likely alter the PHD2 domain structure of DPF2. The clinical presentation of Pierre Robin sequence and diaphragmatic hernia did not immediately suggest CSS, with the more common CSS features of hypoplastic toenails and characteristic facial features very subtle. This individual further broadens the phenotypic features of DPF2-related CSS, as well as CSS more generally.
 ...
PMID:Expanding the phenotypic spectrum associated with DPF2: A new case report. 3120 37