Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

It is generally accepted that there are two subsets of septo-optic dysplasia (deMorsier's syndrome), one with schizencephaly and the other without schizencephaly. A third form of the anomaly which is associated with callosal absence has also been described. Except for schizencephaly, the association of septo-optic dysplasia with another major type of disorder of neuronal migration and organization such as cortical dysplasia, has not yet been reported. We report the MR imaging examination of a 3-year-old patient with bilateral rolandic cortical dysplasia, and with apparent thinning of the optic nerves, and absent septum pellucidum (septo-optic dysplasia) as a new combination. This can be labelled as cortico-septo-optic dysplasia.
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PMID:Septo-optic dysplasia associated with cerebral cortical dysplasia (cortico-septo-optic dysplasia). 910 11

Pulmonary atresia with intact ventricular septum (PAIVS) is a rare congenital cardiac anomaly that has been classified into two types: one is a more frequent type having dysplasia of tricuspid valve (TV) with a small annulus, underdeveloped right ventricle (RV) with a hypoplastic cavity and a hypertrophic wall; the other type has severe dysplasia of TV and dilatation of RV, right atrium (RA), and right atrioventricular junction with thinning of the RV wall. We performed a morphologic study on 11 autopsied hearts with PAIVS, giving particular emphasis to the variation of morphology of the TV. We could classify these hearts into 3 groups according to the degree of right ventricular development. In the first group of 7 cases (type I), the RVs were underdeveloped. Thick leaflets, restricted valve apparatus with short chordae, and small annuli were characteristics of the TV. In the second group of 3 cases (type II), the RVs showed marked enlargement of the cavity and thinning of the wall. The TV showed redundant, dysplastic, sail-like anterior leaflets, and the downward displacement of septal leaflet and/or posterior leaflet, which are the findings frequently observed in Ebstein's malformation. The RVs were dilated and with partially unguarded tricuspid orifice. The septal leaflet of the TV was dysplastic and, in two cases, the septal leaflet showed chordal structure at the upper surface facing the RA, which is a peculiar finding that has not been described in the literature. The remaining case was a heart with a moderately developed RV (type III). The TV showed mildly dysplastic appearance and we classify this as a separate type, because we could expect the best surgical results in this type. This type had optimal size of RV and the mildest degree of dysplasia of TV. In PAIVS, the morphology of TV correlates well with the type of the right ventricular development.
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PMID:Morphology of tricuspid valve in pulmonary atresia with intact ventricular septum. 970 62

A 5-wk-old female dromedary camel (Camelus dromedarius) was clinically diagnosed with bilateral corneal dermoids, incomplete congenital cataracts, a left persistent hyaloid artery (PHA), and a ventricular septal defect (VSD). The corneal dermoids were removed by lamellar keratectomy, and vision improved in the left eye. Thirteen months after dermoid surgery, the calf was presented for enlargement of the right eye. Glaucoma was confirmed in the right eye, and corneal fibrosis and cataract were noted in the left eye. Persistence of the VSD was confirmed by cardiac ultrasonography. The calf was euthanized, and necropsy findings confirmed VSD. Histopathologic examination revealed bilateral corneal thinning and fibrosis, cataracts with retrolental fibroplasia, and retinal dysplasia. Additional changes in the right globe were anterior segment dysgenesis, ruptured lens capsule, chronic phacoclastic uveitis, and retinal separation. The PHA was confirmed in the left eye.
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PMID:Congenital ocular anomalies and ventricular septal defect in a dromedary camel (Camelus dromedarius). 1057 69

Angiosarcoma associated with fibrous dysplasia is very rare. We have recently experienced two cases of angiosarcoma that secondarily arose from fibrous dysplasia. The first patient, a 55 year-old man, had noticed a deformity in the right upper arm since he was five years old. At the age of 25 years, polyostotic fibrous dysplasia was diagnosed by X-ray examination. The patient complained of swelling and pain around the left shoulder. The diaphysis of the humerus was mostly non-observable due to severe bone destruction by tumor invasion and there was a large soft tissue tumor. Biopsy examination revealed grade II or III hemangioendothelioma with typical histologic findings of fibrous dysplasia. After interscapulothoracic amputation for wide tumor resection, he died of DIC. Autopsy revealed multiple liver metastatic lesions of angiosarcoma. The second patient was a 66-year-old woman. She presented with a pathological fracture in the right tibia, due to an osteolytic lesion with cortical bone swelling and thinning. The histologic diagnosis was fibrous dysplasia without any sarcomatous changes. However, after a 3-time recurrence, angiosarcoma arose from the same lesion. She is now still alive with disease-free period of 6.5 years after amputation.
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PMID:Two cases of secondary angiosarcoma arising from fibrous dysplasia. 1065 Jul 91

Isolated congenital nail dysplasia is an autosomal dominant disorder recently observed in a large family from southern Germany. The disorder is characterized by longitudinal streaks, thinning, and impaired formation of the nail plates leading to increased vulnerability of the free nail margins. In most cases, all fingernails and toenails are similarly involved with some accentuation of the thumb and great toenails. Histologic changes include hypergranulosis of the nail matrix and epithelial outgrowths from the nail bed. Patients do not show any alterations of hair growth and dentition, no malfunction of sweat glands and sensory organs, and no skeletal abnormalities. Isolated congenital nail dysplasia manifests from the first year of life with variable expressivity. In order to localize chromosomally the gene underlying isolated congenital nail dysplasia, linkage to the known keratin gene cluster regions on chromosomes 12q12 and 17q21 was ruled out first. The analysis of 150 microsatellite markers on various chromosomes mapped the isolated congenital nail dysplasia gene to the 6 cM interval between markers at D17S926 and D17S1528 on chromosome 17p13. Markers at D17S849, D17S 1840, and D17S1529 co-segregated completely with the isolated congenital nail dysplasia locus. The maximum two-point LOD score was found for the marker at D17S 1840 (Zmax = 6.72 at Thetamax = 0.00). The identified region harbors no currently known genes involved in skin or nail abnormalities. Isolated congenital nail dysplasia probably represents a novel isolated defect of nail development. The localization of this gene is, therefore, the first step towards the identification of a new factor in nail formation.
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PMID:Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13. 1099 40

Neurofibromatosis regroups at least two different autosomal dominant genetic disorders: neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). Vascular disease is an underestimated complication of NF1. Few studies are available on this, all based on case reports. Neurofibromin, NF1 protein product, has also been detected in aortic smooth muscle. The purpose of this study was to evaluate the physical properties of the vessels, by measuring the carotid-femoral pulse wave velocity (PWV). This parameter was assessed by the Complior, a new noninvasive, validated device, used to screen a large population. The authors studied 64 neurofibromatosis patients (34 boys and 30 girls) with a mean age of 12 years (range 5-25 years). To investigate the presence of vascular lesions, aortic stiffness was evaluated by carotid-femoral PWV by using an automatic processor (Complior). They compared data from the PWV with a control group (30 healthy children, 17 boys and 13 girls, mean age 11 years, range 5-23 years). The calculated mean PWV in the control group was 6.5 +/- 1.15 m/s. The mean PWV of the 64 young patients with NF1 was 6.3 +/- 1.02 m/s. There was no difference between the two groups (p=0.39). Nevertheless, analysis of the linear regression has shown a linear relationship between systolic blood pressure (SBP) and PWV in the control group, while in NF1 patients this relationship is not present. The authors suggest that the coexistence of different factors, such as intimal proliferation, thinning media, fragmentation of the elastic tissue, irregularity, stenosis and tortuosity of the vessels, dysplasia of the small vessels, that counterbalance PWV, normalize the mean value. They emphasize the importance of a careful vascular evaluation, using noninvasive method, such as Complior. This device is well accepted by NF1 patients.
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PMID:Noninvasive evaluation of arterial abnormalities in young patients with neurofibromatosis type 1. 1099 14

Optic nerve hypoplasia can be associated with other central nervous system malformations. When associated with absence of the septum pellucidum or thinning of the corpus callosum, it is termed septo-optic dysplasia. Considered to be a first trimester event, the embryologic timing and etiology of this syndrome still is not clearly defined. This report represents the first documented case of septo-optic dysplasia with associated hypoplasia of the olfactory tract. Optic nerve hypoplasia is attributed to an abnormal developmental process during gestation. Generally accepted to be due to a first trimester insult, the timing of this abnormality has been debated given its association with other central nervous system abnormalities. These central nervous system abnormalities often include cerebral hemispheric and hypothalmic-pituitary axis abnormalities. Specifically, the presence of optic nerve hypoplasia with absence of the septum pellucidum and thinning of the corpus callosum has been termed septo-optic dysplasia or de Morsier's syndrome. Septo-optic dysplasia in association with olfactory tract and bulb hypoplasia has not been reported previously.
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PMID:Septo-optic dysplasia with olfactory tract and bulb hypoplasia. 1175 63

The value of imaging techniques such as transthoracic echocardiography, angiography and magnetic resonance imaging in the diagnosis of arrhythmogenic right ventricular dysplasia-cardiomyopathy (ARVD) is limited. First experiences with intracardiac ultrasound have been made during electrophysiological interventions. The ability of using intracardiac ultrasound in ARVD should be tested. In 25 patients with IFSC/ESC criteria of ARVD (nine males, 16 females) with a mean age of 54 (29-78) years suffering from sustained ventricular tachycardia in three cases, positive family history in four cases and syncopes in six cases intracardiac ultrasound was done using 6 French (Fr) 12.5 MHz catheters and the CLEAR VIEW ULTRA Intravascular System (Boston Scientific). Images were taken from the right ventricular apex, outflow tract and infundibulum. Results were compared to selective right ventricular angiography. Right ventricular (RV) angiography revealed bulges and a partial or complete loss of trabecular structure in 22 cases at the apex, in 13 cases at the infundibulum and in 14 cases at the right ventricular outflow tract. Intracardiac echocardiography was able to demonstrate sacculations in all patients at the apex, in 20 cases at the infundibulum and in 16 patients at the right ventricular outflow tract. Sacculations in all segments of the right ventricle were based on a partial or complete loss of trabecular structure. A whole of 36 segments presented with wall thinning (<3 mm) and 15 segments with normal wall structure and wall thickening of surrounding myocardium (>4 mm). In 26 segments the structure of right ventricular wall was inhomogeneous. In comparison to angiography as the 'gold standard' intracardiac ultrasound presented with additional details in 12 cases and the demonstration of angiographic misinterpretation in one case. Intracardiac ultrasound in ARVD is feasible in all cases with 6 Fr 12.5 MHz catheters and provides additional information to the angiographic phenomenon of bulges and to the aspect of tissue characterisation.
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PMID:Value of intracardiac ultrasound in the diagnosis of arrhythmogenic right ventricular dysplasia-cardiomyopathy. 1200 82

A boy with a severe prenatal onset dysplasia, prominent occiput, hypertelorism, epicanthus inversus, low-set ears, flat nasal bridge, small nares, cleft palate, subglottic stenosis, narrow cervical canal, undermodeled bones, cortical thinning of the diaphyses, hip dislocation, severely delayed bone ossification, and apparently normal intellectual development is described. Osseous histopathological studies were unremarkable. The boy's parents are first cousins, suggesting recessive inheritance. To the best of our knowledge, this association has not been reported before, and may be considered a novel syndrome.
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PMID:Prenatal growth deficiency with narrowness of the cervical spine, subglottic stenosis, hip dislocation, and severe delayed bone ossification: a new skeletal dysplasia. 1223 24

Humans with heterozygous inactivating mutations of the Lis1 gene display type I lissencephaly, a severe form of cortical dysplasia hypothesized to result from abnormal neuronal migration. Previously we reported the construction of an allelic series of the Lis1 gene in mice to analyze the effects of graded reduction of LIS1 protein on the pathogenesis of this disorder and demonstrated a cell autonomous defect in neuronal migration (Hirotsune et al., 1998). Here we report the systematic examination of the consequences of dosage reduction of LIS1 on neocortical development using wild-type, null heterozygous (45% LIS1 protein), and compound null/hypomorphic (35% LIS1 protein) mice. The development of the preplate, Cajal-Retzius cells, and the radial glial scaffold appeared unaffected by LIS1 levels. However, a dose-dependent morphologic change in disorganization of the subplate was noted. LIS1 dose-dependent defects in neuronal migration were found in vivo and in vitro. The position and number of mitotic cells in the ventricular zone were more abnormal as LIS1 levels decreased, suggesting defects in interkinetic nuclear migration and neuroblast proliferation. LIS1 dose-dependent progressive thinning of the cortex and ventricular zone occurred by programmed cell death. Thus, in addition to its requirement for cell autonomous neuronal migration, LIS1 influences the generation and survival of cortical ventricular zone neuroblasts. These studies reveal the importance of LIS1 levels in orderly cerebral cortical morphogenesis and suggest new insights into the pathogenesis of type I lissencephaly.
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PMID:Multiple dose-dependent effects of Lis1 on cerebral cortical development. 1262 76


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