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

Oligohydramnios, whatever the cause, results in lungs that are 'hypoplastic' or at least smaller than normal. The fine structure in such lungs has not been reported previously. Three fetal lambs had both ureters ligated at 60, 72 and 58 days of gestation. They were sacrificed at 117, 143 and 142 days of gestation. The lungs were fixed by tracheal perfusion at 15 mm Hg. Individual lobar volumes were determined, and the lungs were sampled for electron microscopy. Total lung volumes for 2 of the lambs were very close to those previously reported for lungs of equivalent gestation with diaphragmatic hernia. The third lamb had a twin that had been unrecognised at the time of the original procedure. This lamb's lung volumes were normal. The morphological appearances of the lungs at the electron microscopy level are not normal but dramatically different from those previously reported in lambs with diaphragmatic hernia, phrenic nerve avulsion, and fetal tracheostomy. The lungs of the lamb with bilateral ureteric ligation and a normal twin were essentially normal. These preliminary findings point to the need for more studies of lung structure in oligohydramnios/obstructive uropathy models. However, the normal lungs in a lamb with grossly dysplastic kidneys and a normal twin argue against any important renal trophic factor in lung development in the fetal lamb. An interesting sidelight to this investigation was the unequivocal demonstration that early ureteric ligation results in true renal dysplasia in the fetal lamb. The kidneys of the lamb sacrificed at 117 days were smaller than normal and grossly dysplastic. The kidneys of the lambs that underwent ureteric ligation at 60 and 72 days were structurally different, with the ureters ligated at 60 days being small and dysplastic, while those with the ureters ligated at 72 days were larger and appeared almost polycystic.
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PMID:Development of fetal lamb lung and kidney in obstructive uropathy: a preliminary report. 307 15

The results of a longterm study on 55 children are presented whose parents were treated by radiotherapy. Five or ten years after a first examination, these children were submitted to a check-up investigation of their physical and intellectual development. The group of twenty irradiated fathers received an average dose to the gonads of 0.55 Gy (0.01 to 6.4 Gy), the group of twenty irradiated mothers 0.72 Gy (0.01 to 8.0 Gy). In all parents the most frequent finding was Hodgkin's disease, which was diagnosed as a neoplasm in 23 cases. Chemotherapy was applied in two out of 40 patients. The proof of paternity was made with a 86% accuracy for ten out of twenty fathers by determination of HLA types. A conception was demonstrated beyond all doubt after a dose to the testicles of 1.2 Gy in the irradiated fathers and after a dose to the ovaries of 3.0 Gy in the irradiated mothers. The offspring of the F1 generation showed no modification in the sex ratio. In the primary examination, a rate of 5.5% of severe malformations was found (trisomy E, bradyacousia of the inner ear, cleft hands and feet). 24% of the children had malformations which needed a treatment (hernias, torticollis, hip dysplasia). 18 out of 55 children (33%) presented abnormalities in the widest sense of the word. Three children (5.5%) were premature infants, and there is a general tendency towards shortened pregnancy (-3.6 days). Hernias (7/55) are a frequent finding. In children of both sexes, carporadiography shows a delayed development which is not compensated in the check-up examinations at five or ten years, but does not cause an underdevelopment in body height as compared to great normal collectives. The results suggest a slightly increased malformation rate among children whose parents were treated by radiotherapy. Above all the connective and supporting tissue seems involved. Some proposals are made how to give a radiogenetic advice to tumor patients who want to have children.
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PMID:[Children of parents irradiated prior to conception--a longitudinal study (results, 1986)]. 320 81

We describe 2 sibs with the syndrome of diaphragmatic hernia, abnormal face, and distal limb anomalies. Both infants died shortly after birth with severe respiratory distress. Postmortem examination showed gross internal anomalies: Dandy-Walker malformation, ventricular septal defect, and renal cystic dysplasia. This combination of anomalies, also termed the Fryns syndrome, appears to be a distinct MCA syndrome with variable expression and probable autosomal recessive inheritance. Prenatal ultrasonographic diagnosis was successful in both patients.
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PMID:The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome. 323 72

A 7-year-old Quarter Horse stallion with a myeloproliferative disorder was examined because of colic, and an enterolith was removed surgically. The horse experienced secondary complications after abdominal surgery, and leukopenia and thrombocytopenia were detected. Five months later, the horse was examined for recurrent peripheral edema and for repair of an abdominal incisional hernia. Acute myelomonocytic leukemia was diagnosed, and treatment with low-dose (noncytocidal) cytosine arabinoside was unsuccessful. Necropsy revealed neoplastic infiltrate in the spleen, liver, lung, adrenal gland, testes, and eye. The persistent hematologic abnormalities before the onset of overt leukemia may represent hematopoietic dysplasia or preleukemia.
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PMID:Acute myelomonocytic leukemia in a horse. 345 90

We are reporting on a 4-generation family in which 6 individuals had frontonasal dysplasia with variable extracranial abnormalities. All affected persons had hypertelorism, bifid or broad nose, and highly arched palate. Associated abnormalities included cleft lip and palate (1/6), webbed neck (2/6), Sprengel anomaly (2/6), pseudoarthrosis of the clavicle (2/6), pectus excavatum (3/6), narrow, sloping shoulders (3/6), diaphragmatic hernia (2/6), broad first toe (4/6), brachydactyly (3/6), fifth finger clinodactyly (5/6), longitudinal grooves of nails (5/6), shawl scrotum (2/3 males), first degree hypospadias (1/3), and mild mental retardation (1/6). Only one affected female had brachycephaly and right coronal synostosis. Four other affected relatives had varying degrees of facial asymmetry, but normal skull contour. No male to male transmission is observed, and both daughters of an affected male were affected. Based on the phenotype of the 3 affected females, craniofrontonasal syndrome (CFNS) is the likely diagnosis. However, there are 3 affected males in this kindred, and 2 of the 3 had significant anomalies. Affected males also had genital abnormalities and pectus deformity of the chest, not previously reported in this condition. Two of the 3 males have posterolateral diaphragmatic hernia. This family expands the phenotype of affected males.
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PMID:Delineation of the male phenotype in carniofrontonasal syndrome. 363 Nov 34

Recent developments and improvements in prenatal diagnostic methods, and in particular antenatal ultrasonography, have made intrauterine detection of fetal abnormalities possible. Most defects are best treated after birth, only a few disorders are potentially amenable to surgical treatment in utero. Studies in animal models have helped us to define the pathophysiology, to recognize the interference of the abnormality with organ development and to determine whether elimination of the anomaly might allow fetal development to proceed normally. In-utero repair of congenital diaphragmatic hernia has been practiced on a fetal lamb model but has not yet been attempted in human beings. Treatment of fetal hydrocephalus has been investigated in sheep and rhesus monkeys, and the pathophysiology and intrauterine treatment of fetal hydrocephalus has been studied in fetal lambs and monkeys, but the question of the reversibility of renal dysplasia has not been resolved. Animal models have been described for possible intrauterine treatment of skeletal abnormalities like spina bifida. But more knowledge of embryology and of the pathophysiology of the malformation is needed, as well as about the efficacy and feasibility of this method before it can be attempted in human beings. Prerequisites for fetal surgery include the selection of those fetuses who might benefit from intrauterine treatment, counselling of the family concerned, and a highly experienced multidisciplinary team including a perinatal obstetrician, an ultrasonographer, a pediatric surgeon and a neonatologist. In human beings intrauterine treatment has been performed in erythroblastosis fetalis, urinary tract obstruction and hydrocephalus with encouraging results. There are many ethical, legal and social questions which cannot be answered; new guidelines and rules will have to be laid down.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Problems of and possibilities in fetal surgery]. 389 50

The observation of partial trisomy for 5q31-5qter and partial monosomy for the same segment in two offspring within the same family is presented. Their normal mother was a balanced carrier of a reciprocal translocation 46,XX,t(5;10) (q31.3;q26). The trisomic female had craniofacial dysplasia, a short neck, clinodactyly of the 5th fingers, a small umbilical hernia, arhinencephalia, cerebellar hypoplasia, atrial septal defect, an accessory spleen, bifid uterus and vagina, hypoplastic ovaries. Potter syndrome with cystic dysplasia of the left kidney and agenesis of the right, urethral atresia, uterus unicornus with utero-urethral fistula, true hermaphroditism with two ovaries and one testicle were found in her stillborn sister. Analysis of the manifestations of monosomy 5q and trisomy 5q in the same family supports a well known fact that the effects of deletions are more pronounced than those of duplications for the same segments.
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PMID:Partial trisomy 5q and partial monosomy 5q within the same family. 404 93

The "empty sella" (ES), a common entity in adults, is so named because a cerebrospinal fluid-filled arachnoid hernia fills the pituitary fossa and compresses the pituitary gland, creating the illusion of an "empty" sella. We report our experience of ES in childhood. Our four cases represent associations with ES that have not been previously described in childhood: case 1 was associated with central precocious puberty; case 2 with secondary ES resulting from shrinkage of a prolactinoma during bromocriptine therapy; case 3 with pseudotumor cerebri; and case 4 with no significant pathology. Together, they account for approximately 1 percent of cases of radiographically enlarged sella tursica investigated here. This brings the number of cases of ES reported in children to 27. Review of these 27 cases reveals seven with local skull dysplasia and/or a familial inheritance. The remainder lacked clinical homogeneity or similarity to the common adult variety of ES. Children with ES did not exhibit the higher female preponderance reported in adults with ES. They showed a higher frequency of secondary cases (4/27), and of associated endocrine (10/15) and visual (8/17) abnormalities than is seen in adults with the "empty sella."
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PMID:The "empty sella" in childhood. 673 18

A previously unrecognized association of pulmonary rhabdomyomatous dysplasia and congenital posterolateral diaphragmatic hernia is reported. The authors subscribe to the concept of ectopia and postulate an anomalous migration of cervical "diaphragmatic" rhabdomyoblasts as the most probable origin of the pulmonary muscle fibers.
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PMID:Rhabdomyomatous dysplasia of lung and congenital diaphragmatic hernia. 685 8

A case of tuberous sclerosis in a preterm newborn baby is described, in whom there were also multiple rhabdomyomas of heart, diaphragmatic hernia, giant-cell astrocytoma of lateral ventricle and malrotation of the intestine. This is the first report of an association of tuberous sclerosis with diaphragmatic hernia. The presence of multiple congenital malformations supports the theory that tuberous sclerosis represents multi-germ layer dysplasia.
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PMID:Tuberous sclerosis presenting as diaphragmatic hernia in a newborn. 740 41


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