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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Malformations of the fetal abdominal wall include a broad spectrum of anomalies, and prenatal sonography provides the possibility of detecting most of them. Omphalocele and gastroschisis are the most common conditions, but there are other rare forms. We describe here a rare case of body wall dysplasia that we called abdominal hernia that appeared upon prenatal sonography as an omphalocele-like defect.
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PMID:Body wall dysplasia: a rare case of abdominal hernia. 1593 37

We observed two unrelated consanguineous families with malformation syndromes sharing anophthalmia and distinct eyebrows as common signs, but differing for alveolar capillary dysplasia or complex congenital heart defect in one and diaphragmatic hernia in the other family. Homozygosity mapping revealed linkage to a common locus on chromosome 15, and pathogenic homozygous mutations were identified in STRA6, a member of a large group of "stimulated by retinoic acid" genes encoding novel transmembrane proteins, transcription factors, and secreted signaling molecules or proteins of largely unknown function. Subsequently, homozygous STRA6 mutations were also demonstrated in 3 of 13 patients chosen on the basis of significant phenotypic overlap to the original cases. While a homozygous deletion generating a premature stop codon (p.G50AfsX22) led to absence of the immunoreactive protein in patient's fibroblast culture, structural analysis of three missense mutations (P90L, P293L, and T321P) suggested significant effects on the geometry of the loops connecting the transmembrane helices of STRA6. Two further variations in the C-terminus (T644M and R655C) alter specific functional sites, an SH2-binding motif and a phosphorylation site, respectively. STRA6 mutations thus define a pleiotropic malformation syndrome representing the first human phenotype associated with mutations in a gene from the "STRA" group.
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PMID:Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. 1727 77

36 intervertebrate disks (IVD) were studied in spinal osteochondrosis concurrent with herniation. Expression of herpes simplex types 1 and 2 (HSV-1 and HSV-2) antigens, which was absent in IVD of the control group (autopsy cases without disk hernia). The similarity of herniation in osteochondrosis and cardiac mesenchymal dysplasia, a frequent concomitance of these processes and the presence of HSV-1 and HSV-2 antigens in the IVD cells and cardiac valves may indicate the same nature of these diseases.
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PMID:[Spinal osteochondrosis, mesenchymal dysplasia and herpes infection]. 1729 Aug 88

This case report describes an anomalous male fetus of approximately six months gestation with abnormal karyotype containing an extra metacentric chromosome of medium size. The fetus had severe phenotypic abnormalities including anasarca, eye malformations, cardiac hypertrophy, pulmonary hypoplasia, adrenal dysplasia, and an umbilical hernia.
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PMID:Chromosomal trisomy in an anormalous bovine fetus. 1742 88

We report on a 3-year-old male, born at 34 weeks of gestation, with marked pre- and postnatal overgrowth, birth weight of 6,600 g, length of 61 cm, and head circumference of 38.5 cm. A striking phenotype was recorded at birth, which became more evident during the follow-up period. He had macrobrachycephaly, facial abnormalities, small thoracic cage, long trunk, deformed spine, rhizomelia, large hands and feets, absent subcutaneous fat, small umbilical hernia, inguinal hernias, and large joints with mild contractures. Hypoglycemic episodes and obstructive apnea complicated the neonatal period. During follow-up, overgrowth continued with a height of 146 cm (+11.65 SDS) and a weight of 39 kg (BMI 18.3 kg/m(2)) at 3.5 years. Endocrinological work-up disclosed extremely low levels of growth hormone, insulin-like growth factors, and insulin. What makes our patient unique is the association of marked prenatal overgrowth; unusual phenotype; skeletal dysplasia caused by accelerated endochondral ossification resulting in cartilage hyperplasia of the skull base and spine, and postnatal gigantism; and complete absence of subcutaneous fat. Other well-known overgrowth syndromes were excluded. We hypothesize that autocrine/paracrine growth factors could be the cause of excessive endochondral ossification. Alternately, activating mutations in transcription factors involved in both growth and endocrine/metabolic homeostasis could be responsible for this unusual phenotype.
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PMID:Endochondral gigantism: a newly recognized skeletal dysplasia with pre- and postnatal overgrowth and endocrine abnormalities. 1761 4

The vertebral heart size (VHS) is used to objectively assess cardiac dimensions on thoracic radiographs. A high VHS suggest the presence of cardiac pathology, such as dilated cardiomyopathy, degenerative atrioventricular valvular disease, pericardial effusion, pericardioperitoneal diaphragmatic hernia, tricuspid dysplasia, ventricular septal defect, or patent ductus arteriosus, among others. However, breed or body conformation can influence the VHS. Because Greyhounds have a high prevalence of physiologic systolic murmurs associated with high aortic velocity, and large cardiac dimensions when compared with dogs of similar size, they are frequently suspected of having heart disease. The purpose of this study was to compare the VHS in normal Greyhounds with those in Rottweilers, and a group of dogs from various other breeds using both analog and digital radiology. The VHS was significantly higher in Greyhounds (P< 0.0001), when compared with Rottweilers and to other dog breeds. The mean VHS on lateral radiographs for Greyhounds was 10.5 +/- 0.1, for Rottweilers it was 9.8 +/- 0.1, and for mixed breed dogs it was 10.1 +/- 0.2. This study confirms that the relative cardiomegaly reported in necropsy and echocardiographic studies in Greyhounds is easily detected using plain radiography and the VHS.
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PMID:Vertebral heart size in retired racing Greyhounds. 1769 32

The article investigates factors associated with occupational disease among Georgian dance studio students. The problem of work-related neuromuscular and musculoskeletal disorders is outlined. Reiterating and stereotypical movements cause tension of specific muscles, constrained body, monotonous work, and emotional tension lead to occupational support-motor apparatus disorders. The aim of the work is to study the health status of Georgian dance studio students. 254 Georgian dance studio students were examined. It was found that pathology of cardio-vascular, respiratory and digesting systems was more frequent among male students than females; musculoskeletal disorders were common only among the girls. 1/3 of girls with disorder of musculoskeletal system had inborn dysplasia of hip joint bones. In three male students hernia had developed during the first year of the study.
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PMID:[Factors associated with the health status of Georgian dance studio students]. 1840 Oct 58

Unilateral pulmonary anomalies are rare events of unknown etiology and large clinical variability. Neonatal history does not allow for a reliable prognosis. Interdisciplinary mangament includes prenatal diagnostics and obstetrics, genetics, neonatology, pediatric cardiology and surgery as well as pediatric orthopedics. Neonatal history and long-term follow-up in three patients are presented here including a discussion of prenatal diagnostics and the embryo-genetic basics of lung development. In three term neonates the diagnoses of unilateral pulmonary agenesis, aplasia and dysplasia, respectively, were based on angiography, MRI and bronchoscopy. Neonatal presentation and long-term consequences were studied in the context of the current literature. Neonatal complications ranged from mild repiratory distress to pulmonary failure requiring mechanical ventilation. One patient developed scoliosis on long-term follow-up. Cardiac failure or pulmonary hypertension did not occur during follow-up, in one case lung malformation was accompanied by VACTER-association. Unilateral lung malformation is frequently associated with other, singular or complex anomalies (e.g., renal and vascular). A possible relationship to disrupted regulation of embryo-genetic factors such as T-BOX genes, PITX2 and growth factors ( FGF10), which regulate ASYMMETRICAL pulmonary morphogenesis is discussed. Disruptive unilateral pulmonary malformations may serve as a model for embryological lung development and other anomalies (e.g., congenital diaphragmatic hernia, unilateral hypoplasia and CCAM). Prenatal diagnosis is characterized by unilateral hyperechogenicity of the affected lung. Neonatal presentation is determined by mediastinal shift which may be corrected by tissue-expander implantation. Associated anomalies require cytogenetic analysis and sequencing of currently known mutations. Long-term follow-up by echocardiography and pulmonary function testing is mandatory in these patients.
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PMID:[Unilateral pulmonary agenesis, aplasia and dysplasia]. 1931 94

Congenital cystic adenomatoid malformation (CCAM) of the lung is an uncommon anomaly that arises from excessive disorganised proliferation of tubular bronchial structures excluding the alveoli. These are believed to represent focal pulmonary dysplasia because skeletal muscle may be identified from within the cyst wall. This report describes a case of an infant operated for presumed diagnosis of congenital diaphragmatic hernia. Diaphragm was found to be normal and further investigations revealed cystic mass in the lower lobe of the left lung. Thoracotomy was done to resect the lesion that revealed a type II CCAM on histopathological examination. The case stresses the need for better clinical examination and advanced radiological investigations in doubtful cases.
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PMID:Cystic adenomatoid malformation of the lung: a diagnostic dilemma. 1966 43

Congenital agenesis of the sternum is an extremely unusual malformation rarely encountered by the practicing Otolaryngologist. It typically arises in conjunction with other midline ventral congenital anomalies, including abdominal, diaphragmatic, and cardiac malformations. We report a case series of two patients managed with tracheotomy placement due to prolonged intubation. The first patient was a 63-day-old infant born at 34 weeks gestation with dysmorphic features, cleft lip and palate, and skeletal dysplasia, including absence of the sternum. The second patient was a 31-day-old infant born with ectopic cordis and diaphragmatic hernia. The inadequate closure of the anterior chest wall secondary to manubrium malformation or a variant contributes significantly to a child's inability to generate adequate ventilatory pressures. As a result, airway management must be considered not only to ensure airway patency but also an appropriate physiological environment to allow for adequate air exchange in the lungs.
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PMID:Airway implications of congenital sternal agenesis. 2001 80


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