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Results 301 - 350 of 976
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Phillips John S - - 2005
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is an autosomal dominant angiopathy characterized by recurrent cerebrovascular events, migraine and dementia. We describe a case of sensorineural hearing loss as the presenting feature of this condition. We have found no previous reports in the world literature of CADASIL ...
Bilwani Fareena - - 2005
Two cases of siblings diagnosed as cases of familial homocystinuria are reported. Both the cases have classical presentation of familial homocystinuria including history of dislocation of lens of the right eye. Brother had history of psychomotor retardation while sister had a significant history of deep vein thrombosis. Levels of plasma ...
Sracic Julie K - - 2005
Hereditary papulotranslucent acrokeratoderma is a rare autosomal-dominant syndrome of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. Histopathologically, focal hyperkeratosis, hypergranulosis, and acanthosis of the epidermis are seen. We present a case of hereditary papulotranslucent ...
Bence Neil F - - 2005
The relevance of the ubiquitin proteasome system (UPS) to disease and fundamental cellular processes has generated a demand for methods to monitor the activity of this system in living cells and organisms. Here we describe the GFP(u) family of UPS reporters. These reporters are constitutively degraded, ubiquitin-dependent proteasome substrates that ...
Kitamura Yohei - - 2005
We report a case of necrolytic migratory erythema (NME) without glucagonoma associated with hepatitis B. Although the most common cause of NME is a glucagon-secreting alpha-islet cell tumor of the pancreas, a dermatitis clinically and histologicaly identical to NME has been described in patients without glucagonoma. Impairment of hepatic dysfunction ...
Rodriguez V - - 2005
A neonate who had intracranial haemorrhage (ICH) at birth received a diagnosis of severe haemophilia B at 6 months of age. ICH had been the initial presentation of his bleeding disorder. His family history was negative for haemophilia. Review of our institutional experience as well as the literature indicates that ...
Halama Niels - - 2005
Leiomyomatosis peritonealis disseminata (LPD) is defined as the occurrence of multiple tumorous intraabdominal lesions, which are myomatous nodules. LPD is a rare disease with only about 100 cases reported. The usual course of LPD is benign with the majority of the patients being premenopausal females. Only two cases involving men ...
Kringen Pedro - - 2005
Ovarian carcinomas from 30 BRCA1 germ-line carriers of two distinct high penetrant founder mutations, 20 carrying the 1675delA and 10 the 1135insA, and 100 sporadic cases were characterized for somatic mutations in the TP53 gene. We analyzed differences in relation to BRCA1 germline status, TP53 status, survival and age at ...
Kumar Sudhir, Kumar RaviP
Neurofibromatosis (NF), one of the commonest phakomatoses, is characterized by varied clinical manifestations. Segmental NF is one of the uncommon subtypes of NF. We report a young adult presenting with asymptomatic skin lesions- neurofibromas and café-au-lait macules- over localized areas of the lower back, affecting more than one segment. None ...
Tan Chun-Feng - - 2005
We report two patients who exhibited frontotemporal dementia (FTD) with unusual neuropathological features. The ages of the patients at death were 65 and 67 years, the disease durations were 6 and 5 years, and the clinical diagnoses were Pick's disease and corticobasal degeneration (CBD), respectively. At autopsy, both cases exhibited ...
Lonardo Amedeo - - 2004
We report on four cases displaying the wide range of aetiological risk factors (presence or absence of family history of dyslipidaemia and cryptogenic cirrhosis, from subnormal body mass index through morbid obesity, from absent through hepatotoxic alcohol consumption), laboratory test results (from subnormal through elevated uric acid and ferritin values), ...
Melese Muluken - - 2004
Active trachoma is known to cluster in close contacts, such as mother and child and between siblings, but we do not know the pattern for trichiasis. This cross-sectional study was conducted to determine if there is as much trichiasis as active trachoma within families having close contact. This information will ...
Belengeanu Valerica - - 2004
We report two siblings with congenital generalized hypertrichosis and distinctive facial appearance consistent with the dysmorphic facial features described in Ambras syndrome. The patients were born to non-consanguineous, phenotypically normal parents. This is the first report of affected siblings and could be explained by either autosomal recessive inheritance or by ...
Musa A A - - 2004
This is a report of a case of humeroulnar synostosis at the right elbow of a native Nigerian girl in whose family there is no history of genetic/hereditary diseases. This defect was not associated with any other deformity. This is a rare defect that has never been mentioned in literature. ...
Lowe Kevin G - - 2004
Acquired quadrilateral limb loss is a rare occurrence in children. One cause of this condition is severe meningococcal septicemia. We present the case of a boy who, at 14 months of age, required extensive amputation after an episode of meningococcal septicemia. We review his medical recovery and rehabilitation, including upper- ...
Georgopoulos N A - - 2004
Cerebellar ataxia has been described as being associated with hypogonadism for almost 100 years. In the majority of cases, hypogonadism is hypogonadotropic. The association of cerebellar ataxia with hypergonadotropic hypogonadism is a rare genetic disorder with a recessive mode of inheritance. Cerebellar ataxia and hypogonadism can also occur associated with ...
Kameyama Kaori - - 2004
We conducted a large-scale nation-wide questionnaire survey to ascertain the status of familial medullary thyroid carcinoma (MTC) in Japan in 2002. Out of a total of 271 MTC cases (male to female ratio 1:1.4), multiple endocrine neoplasia (MEN) 2A accounted for 83 cases (30.6%), familial MTC (FMTC) for 14 cases ...
Wilcox Bryan K - - 2004
Cerebro-costo-mandibular syndrome is a rare disorder characterized by psychomotor retardation, posterior rib-gap defects, and the orofacial defects of Pierre Robin sequence. Most cases are sporadic, but several familial cases have been reported, many of which support autosomal recessive inheritance. We present a case of autosomal dominant inheritance from father to ...
Banks David C - - 2004
We describe how to count the cases that arise in a family of visualization techniques, including Marching Cubes, Sweeping Simplices, Contour Meshing, Interval Volumes, and Separating Surfaces. Counting the cases is the first step toward developing a generic visualization algorithm to produce substitopes (geometric substitutions of polytopes). We demonstrate the ...
Latini Maurizio - - 2004
OBJECTIVE: To report a case of 100% teratozoospermia in a patient whose family history presented a high degree of consanguinity. DESIGN: Case report. SETTING: University-based andrology clinic. PATIENT(S): A 27-year-old man undergoing infertility evaluation. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Serum hormone analysis, standard (World Health Organization) semen quality evaluation, sperm ...
Tubbs R Shane - - 2004
Familial syringomyelia outside of trauma, tumor, or infection has been reported. Cases are presented that highlight the possible connection between familial syringomyelia and the Chiari 0 malformation. We report on 11-year-old twin brothers both with syringomyelia. Magnetic resonance imaging further revealed that one brother had Chiari I malformation and the ...
Garavelli Livia - - 2004
Solitary median maxillary central incisor (SMMCI) is a rare dental anomaly. It is usually considered as a minor manifestation of holoprosencephaly (HPE). Some reported families had severe cases of HPE in some members and SMMCI in others. Mutations of Sonic Hedgehog (SHH) have been documented in these families. SMMCI has ...
Gupta Ritika - - 2004
We describe the first case of a sixty-five-year-old male field worker from India, having lesions of hereditary punctate palmoplantar keratoderma with an autosomally dominant pattern of inheritance. Associations included nail abnormalities in the form of longitudinal ridging, onychorrhexis, onychoschizia, trachyonychia and notching, which has been reported only on one previous ...
Bianchi Claudio - - 2004
A survey of 610 pleural mesotheliomas disclosed 40 familial cases. The diagnosis was histologically based in 39 cases, and confirmed by necropsy in 30. Occupational data were collected from the patients or from their relatives by personal interviews. Routine lung sections were examined for asbestos bodies in 32 cases. In ...
Hagenah Johann M - - 2004
We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA-binding protein gene ranged from 53 to 55 repeats (normal: 29-42). The main clinical features were focal dystonia as presenting sign, followed by cerebellar ...
Thell, Arne
The Parmeliaceae flora of the Nordic area is reviewed on the basis of literature, database, and herbarium sources. A list of 40 genera and 153 species in current use, with comments on their distribution and taxonomic remarks on some of the species, is presented.
Draznin Michelle - - 2004
Syringoma is a benign neoplasm of eccrine origin. Clinically, it is an eruption of small translucent-to-yellowish papules. These lesions are firm, smooth, and approximately 1-3 mm in diameter. They are most commonly found around the eyes and on the upper cheeks of middle-aged women. Lesions sometimes develop on the abdomen, ...
Allali F - - 2004
We report 12 cases of Behçet's disease (BD) in children. The mean age of symptom onset was 12.4 years. Four patients (33.3%) had a past familial history of BD. Clinical manifestations were: oral aphtosis (n = 12), genital aphtosis (n = 9), ocular involvement (n = 9), neuro-Behçet (n = ...
Celić Dijana - - 2004
Xanthoma disseminatum is a rare, benign, non-Langerhans' cell histiocytic disorder of unknown etiology. A case is presented of a 71-year-old man with a three-year history of disseminated symmetric yellowish papules and plaques on the skin of the face, neck, flexor regions, trunk, extremities and oral mucosa, with fatty infiltration of ...
Ehrig Torsten - - 2003
Buschke-Ollendorff syndrome is a rare, autosomal dominant disease consisting of osteopoikilosis and skin manifestations. A case is reported, and the literature is reviewed with special reference to the clinical distribution patterns of skin lesions. The 2 main types of skin manifestations in this entity are widely disseminated, symmetrically distributed papules ...
Espinosa Ana B - - 2003
We compared the incidence of Her-2/neu amplification in patients with and without a family history of breast cancer and correlated gene status with clinicobiologic and prognostic features in sporadic and familial cases. Of 108 patients, 28.7% had gene amplification. Among 96 cases with family history information available, 28 had an ...
Kusuhara Koichi - - 2004
Tumour necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited disorder characterised by recurrent episodes of sustained fever. Here we report a case of TRAPS with a novel TNFRSF1A mutation, C70S, in a Japanese family. The mutation disrupts one of the three disulphide bonds in cysteine-rich domain 2 of ...
Boente María del Carmen Mdel - - 2003
The coexistence of linear porokeratosis (LP) and disseminated superficial actinic porokeratosis (DSAP) in a 3-year-old girl with a family history of DSAP is presented. Happle proposed loss of heterozygosity (LOH) to explain the origin of this unusual phenomenon. Homozygosity would explain why lesions in LP are far more pronounced than ...
Tonk Vijay S - - 2003
Interstitial deletion of the proximal short arm of chromosome 4, extending from p14 to p16.1 region, results in a distinct clinical syndrome. This proximal 4p deletion syndrome is characterized by variable degrees of mental retardation, unusual facies and minor dysmorphic features. Majority of the patients also show a tall, ectomorphic ...
Ozkan Yasar - - 2003
Many cases have been published on cherubism since Jones described it first time in three children of the same family [Am. J. Cancer 17 (1933) 946]. Cherubism is an autosomal-dominant disorder in which the normal bone is replaced by cellular fibrous tissue and immature bone. Extracranial skeletal involvement is rarely ...
Smyth Paul - - 2003
The paroxysmal facial pain of trigeminal neuralgia is usually idiopathic, but familial cases have been described. We describe a family with apparent autosomal dominant transmission of trigeminal neuralgia. Our cases and a review of the literature suggest that the etiology of trigeminal neuralgia may be vascular compression of the fifth ...
Castellana Giuseppe - - 2003
Pulmonary alveolar microlithiasis (PAM) is a rare idiopathic disease with unknown etiology and pathogenesis. The present work updates the world literature on PAM up to the end of 2001 by means of a full review, including minor reports in local languages (not English). Excluding secondary cases, a total of 424 ...
Kodjikian Laurent - - 2003
PURPOSE: A total of 69 families affected by uveal melanoma have been reported in the literature. This report describes two additional families. In addition to presenting these cases, which constitute exceptions, the paper reviews the literature. MATERIAL AND METHODS: Two families, each with two affected members, were analysed in this ...
Kathirithamby Jeyaraney - - 2003
We report here the case of a metazoan parasite, a strepsipteran, that manipulates host epidermal tissue and wraps itself within it; which probably camouflages the endoparasite and is recognized as "self" by the host. This mechanism is one of immune avoidance among parasitoid insects. The host-derived epidermal "bag" might have ...
Chakravarty A - - 2003
Seventy cases of primary degenerative cerebellar ataxias in ethnic Bengalees from southern West Bengal, India, were studied by the authors. Of these, 50 cases were of the familial type (hereditary ataxias) encountered in 23 families and the remaining 20 were of sporadic onset. 18 cases (from 11 families) were of ...
McIntyre James D - - 2003
Humeroradial synostosis may occur sporadically or as an extremely rare inheritable disorder. The current classification divides cases into class I (fixed in extension with ulnar ray hypoplasia) or class II (fixed in flexion without hypoplasia). Familial cases of class II synostosis segregate into autosomal recessive and autosomal dominant groups. Autosomal ...
Egeli Erol - - 2003
OBJECTIVE: The etiology of deafness can be classified as genetic, acquired and unknown. An unknown etiology was a high incidence in previous reports. The aim of this study is to explore the etiology of deafness and to reduce the cases in the unknown group. METHODS: This study was conducted on ...
Honig Lawrence S - - 2003
In this case study, we describe the symptoms, neuropsychological testing, and brain pathology of a man with frontotemporal dementia (FTD). FTD most often presents with either a change in personality or behavior, such as social withdrawal, increased gregariousness, disinhibition, or obsessive behaviors; or with impairment of language function. Memory difficulties ...
Ter Poorten Maryanna C - - 2003
BACKGROUND: Familial eccrine spiradenoma is a rare autosomal dominant condition that is characterized by slow-growing, benign adnexal tumors. OBJECTIVE: We investigated a case of familial eccrine spiradenoma displaying an autosomal dominant inheritance pattern. To our knowledge, only two previously reported cases of familial eccrine spiradenoma exist in the literature. METHODS: ...
Oggins Jean - - 2003
To see what issues couples most and least often reported as topics of marital disagreement, survey data were analyzed for 113 African-American and 131 Euro-American couples reporting in the first and third years of marriage. Friedman tests showed that in both the first and third years of marriage, money was ...
Ojeda-Thies C - - 2003
The political implications of haemophilia in the marriage of King Alfonso XIII of Spain and Princess Victoria Eugenie Battenberg of England have been reviewed in recent books on history. However, the fact that they had haemophilic sons also affected their personal relationship. In this article, we review the consequences haemophilia ...
Hornby S J - - 2003
To identify the proportion of familial cases of isolated ocular colobomatous malformations in a case series from south India. Children with ocular coloboma without systemic features were recruited from multiple sources in Andhra Pradesh, India. Their families were traced, pedigrees drawn, and family members examined. 56 probands, 25 females (44.6%) ...
Mahmud Taifo - - 2003
This review covers microbial secondary metabolites classified in the family of C7N aminocyclitols, a relatively new class of natural products that is increasingly gaining recognition due to their significant biomedical and agricultural uses. Their discovery and structure determinations, their biosynthetic origin, biological properties, chemical synthesis, as well as their further ...
Meguid Nagwa Abdel - - 2003
We report three Egyptian boys from three different families born with penoscrotal transposition (PST). None of them fell into categories of known syndromes, associations, sequences or chromosome disorders. Other malformations observed included renal, genital, cardiovascular and limb defects. Although the occurrence of most reported cases of PST are sporadic, three ...
Moore Crystal Dea - - 2003
This qualitative study examines the judgment standard preferences of older adults related to surrogate decision-making for medical treatment. Thirty community dwelling adults over the age of 60 were presented with scenarios that depicted three decision-making standards, two of which are the predominant legal standards (substituted judgment and best interests), and ...
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