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

We describe 2 sibs, a male fetus with an unusual lumbar hernia and spina bifida occulta, and a female fetus with a median abdominoschisis. The first fetus had some signs of lumbocostovertebral syndrome (LCVS), which consists of a congenital lumbar hernia and associated abnormalities such as absent or hypoplastic ribs, hemivertebrae, and scoliosis. Abdominoschisis has not been described in LCVS, and the given abnormalities in the 2 sibs have not been published to date. One can hypothesize that vascular disruption of a somite or a group of somites may result in the described abdominal wall defects. We conclude that these abnormalities could be coincidental in the 2 sibs or could have a related, probably multifactorial, cause.
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PMID:Body wall defects in two sibs. 937 16

Advances in ultrasound technology and sonographer's experience lead to the description of many rare syndromes and malformations through prenatal diagnosis. Diaphragmatic hernia is a rather common malformation but can be an indicator of different syndromes. We report the prenatal diagnosis of lethal multiple pterygium syndrome type II which has been established in the 34th week of pregnancy. The sonographically detectable symptoms consisted of polyhydramnios, hygroma colli, diaphragmatic hernia, scoliosis, short forearms, hypokinesia of the fetus and pterygia over the large joints. Labour was induced in the 34th week of pregnancy; the neonate died shortly after vaginal delivery as a result of the pulmonary hypoplasia. A multidisciplinary approach in prenatal assessment may help to clarify difficult diagnostic problems and may be of direct benefit for the pregnant patient.
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PMID:Prenatal diagnosis of a lethal multiple pterygium syndrome type II. Case report. 960 14

Spondylocostal dysostosis is a congenital disorder characterized by multiple malformations of the vertebrae and ribs. We describe the sonographic features of an affected fetus at 12 and 14 weeks of gestation. The fetus had thoracic scoliosis, multiple vertebral and rib malformations and a grossly dilated stomach that had herniated into the chest through a left-sided diaphragmatic hernia. The stomach spanned the whole length of the fetal trunk.
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PMID:Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester. 1020 17

Herniation of a calcified intervertebral disk into the cervical and thoracic spine is a well-documented entity, but herniation of a calcified intervertebral disk into the lumbar spine presenting as acute scoliosis has not been previously reported.
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PMID:Herniation of calcified intervertebral disk in a lumbar vertebral body presenting as acute scoliosis in a child. A case report and literature review. 1051 70

A patient with Shprintzen-Goldberg syndrome was followed up for 24 years. The patient's parents were unrelated and unaffected. Walking and speech were delayed. Facial dysmorphism was obvious as well as pectus excavatum, scoliosis, bilateral dislocation of the radial heads, hammer toes and hallux valgus, pes planus, arachnodactyly, and camptodactyly. Skin was thin and fragile. CT scan showed ventricular enlargement. He had a mitral valve prolapse. He was operated on twice for bilateral inguinal and crural hernia and several times for his foot deformities. Puberty was delayed until 18 years. At 24 years of age he was still thin, dolichocephalic, and the facial dysmorphic features were still obvious. Pectus excavatum was still severe but the thoracolumbar scoliosis was mild. His foot deformities had improved and his joints were less hypermobile. Psychomotor development was quite normal. His main concern was the minimal subcutaneous fat and fragility of skin. Echocardiography was now normal.
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PMID:Shprintzen-Goldberg marfanoid syndrome: a case followed up for 24 years. 1182 98

Although back disorders are a major occupational problem for nursing staff, few studies distinguish different types. By means of a structured questionnaire, we performed a cross-sectional study on the prevalence of diagnosed lumbar disc hernia, chronic low-back pain (LBP) (at least 90 d in the preceding 12 months) and acute LBP (intense pain for at least 1 d) with respect to physical, individual and psychosocial factors among female nurses (n=587), nursing aides (n=228) and head-nurses (n=43) working in a university hospital (95% of the female workforce). Almost all respondents reported known high-risk occupational activities. Overall prevalence of reported back disorders was 44% (acute LBP 19%, chronic LBP 17%, lumbar hernia 8%). On multinomial logistic regression analysis, scoliosis and commonly stress-related psychosomatic symptoms were associated with all three types of back disorder; trauma/fractures of the spine, pelvis and/or legs and a global work-environment/job-satisfaction score with acute LBP; increasing age with lumbar disc hernia. While confirming the relevance of considering different definitions of back disorder, our data indicate items for investigation in cohort studies. These include: identification of specific risk factors for lumbar hernia; avoidance of possible work-environment risk factors such as hurried execution of different tasks at the same time; and influence on job suitability of underlying spinal pathologies such as scoliosis.
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PMID:Associations of psychosocial and individual factors with three different categories of back disorder among nursing staff. 1509 Jun 84

Our objective was to study long-term respiratory outcomes of congenital diaphragmatic hernia (CDH) treated in the perinatal period. This was a cohort study with 26 adolescent survivors and age- and gender-matched controls. Medical histories were retrieved from hospital charts and questionnaires. Pulmonary function testing included measurement of maximum inspiratory and expiratory pressures (MIPS and MEPS) and maximum voluntary ventilation (MVV). Unpaired two-tailed t-test and nonlinear regression were used for statistical analysis. Significant differences were found in forced expiratory volume in one second (FEV(1)) (79% +/- 16% vs. 94% +/- 10%, P < 0.001), FEF(25-75) (62% +/- 24% vs. 84% +/- 15%, P < 0.001), FRC (114% +/- 20% vs. 95% +/- 13%, P < 0.001), RV/TLC (31% +/- 10% vs. 22% +/- 6%, P < 0.001), MVV (74% +/- 16% vs. 90% +/- 13%, P < 0.001), and MIPS (69% +/- 19% vs. 84% +/- 16%, P < 0.01), with numbers indicating percent predicted of reference values +/- SD. Reduction of MVV was not independent from FEV1 (r = 0.83). Forty-eight percent of patients vs. 4% of controls showed significant improvement of FEV1 after bronchodilators (86% +/- 15 vs. 98% +/- 10, P < 0.01). Forty-six percent of patients had abnormalities of the chest wall or spinal column such as pectus excavatum, pectus carinatum, and scoliosis, mostly mild or moderate. In conclusion, long-term respiratory outcome in adolescent CDH is associated with mild to moderate airway obstruction, a high prevalence of response to bronchodilators, and decreased inspiratory muscle strength. This should guide follow-up scheduling and should be taken into account for perioperative and critical care management.
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PMID:Long-term pulmonary morbidity in survivors of congenital diaphragmatic hernia. 1570 83

The Shprintzen-Goldberg syndrome (SGS) is a disorder of unknown cause comprising craniosynostosis, a marfanoid habitus and skeletal, neurological, cardiovascular, and connective-tissue anomalies. There are no pathognomonic signs of SGS and diagnosis depends on recognition of a characteristic combination of anomalies. Here, we describe 14 persons with SGS and compare their clinical findings with those of 23 previously reported individuals, including two families with more than one affected individual. Our analysis suggests that there is a characteristic facial appearance, with more than two thirds of all individuals having hypertelorism, down-slanting palpebral fissures, a high-arched palate, micrognathia, and apparently low-set and posteriorly rotated ears. Other commonly reported manifestations include hypotonia in at least the neonatal period, developmental delay, and inguinal or umbilical hernia. The degree of reported intellectual impairment ranges from mild to severe. The most common skeletal manifestations in SGS were arachnodactyly, pectus deformity, camptodactyly, scoliosis, and joint hypermobility. None of the skeletal signs alone is specific for SGS. Our study includes 14 mainly German individuals with SGS evaluated over a period of 10 years. Given that only 23 other persons with SGS have been reported to date worldwide, we suggest that SGS may be more common than previously assumed.
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PMID:Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. 1633 34

The deletion 9p with trisomy 19q syndrome is a rare disorder. We report 2 adults and 4 children with deletion 9p and trisomy 19q due to familial balanced 9p;19q translocation with clinical features suggestive of monosomy 9p. The children had dysmorphic features and psychomotor retardation while the adults were self-sufficient but worked in a sheltered environment. High-resolution chromosome analysis and fluorescence in situ hybridization confirmed that the 6 cases of unbalanced translocation, der(9)t(9;19)(p24.1;q13.4) were inherited from a balanced translocation carrier, t(9;19)(p24.1;q13.4). The dysmorphic features included trigonocephaly, small nose with stunted tip, and long philtrum. Associated anomalies included wide-set nipples, extra finger flexion creases, hernia, external genitalia hypoplasia, scoliosis, and hypopigmented skin patch. We suggest that genetic counseling is necessary for those who have family members with dysmorphic features and/or major anomalies and/or psychomotor retardation.
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PMID:Six cases of deletion 9p24 and trisomy 19q13.4 inherited from a familial balanced translocation. 1609 33

This article discusses the prevention and management of chest wall and diaphragmatic complications after extrapleural pneumonectomy, the prevention of thoracoplasty scoliosis, the complications after chest wall resection, and the presentation, prevention, and management of chest wall hernia. Appropriate preoperative assessment and patient selection, meticulous attention to detail intraoperatively, and diligent postoperative observation and care are needed to prevent these events.
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PMID:Chest wall/diaphragmatic complications. 1700 56


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