Search Results
Results 251 - 300 of 945
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Hyari Muwafag - - 2006
Very few reports on the phenotype of short fifth metacarpals have been published in the medical literature. We report a Jordanian family in which three sisters aged 15, 13 and 8 years revealed bilateral shortening of the fifth fingers and radiological shortening of the fifth metacarpals. The father had unilateral ...
Kim H S - - 2005
We report a patient with familial amyloid polyneuropathy. Gene analysis revealed a heterozygous Glu54Gly substitution (A-to-G change) in the transthyretin gene. This is the first case of a Glu54Gly substitution that was devoid of a Gly6Ser substitution. Compared with the previously reported case with compound heterozygotes of Glu54Gly and Gly6Ser, ...
Sudo Satoru - - 2005
This study reports correlation of the hippocampal neurofibrillary tangles (NFT) density with beta-amyloid (Abeta) precursor protein (APP) 717 mutation, presenilin (PS)-1 mutation and apolipoprotein E (Apo-E) e4 alleles (E4), being graded as 3 forms (no-E4, one-E4 and two-E4) in autopsied brains from patients with familial and non-familial Alzheimer's disease (AD). ...
Pranesh N - - 2005
Familial adenomatous polyposis (FAP) is an autosomal dominant condition with near complete penetrance, characterised by the presence of numerous adenomatous polyps of the colon and rectum. Melanosis coli describes the brownish-black discolouration of the colon resulting from the accumulation of a granular pigment in the phagosomes of macrophages in the ...
Sözübir Selami - - 2005
In the pediatric population, ureteroceles may present with different clinical pictures, and the severity of the renal damage is greater than in adults. Ureterocele, an anomaly of ureteric budding, is likely a component of a spectrum of anomalies including vesicoureteral reflux and ureteral duplications. Both have been confirmed to have ...
Suresh Kumar P N - - 2005
Folie à deux is defined as an identical or similar mental disorder affecting two or more individuals, usually the members of a close family. Two case reports of this condition are presented with a brief review of the literature. Prompt recognition of this condition is an essential step in the ...
Senghas Ann - - 2005
A sign language has emerged among three generations of deaf people and their families in a Bedouin community in the Negev desert. This newly reported case sheds light on the minimal environmental social factors required to generate a language.
Robinson Kirsty - - 2005
A case of accidental ingestion of cannabis by a toddler is reported. Details of her presentation, investigations performed management and her recovery are outlined. Included is a discussion of alternative differential diagnoses and a summary of similar cases reported previously in journals. The management of the toddler and her family ...
Zaidi Farhan H - - 2005
The authors report a family with familial Bell's palsy affecting seven individuals, six of whom are females. This is a distinct subtype of Bell's palsy with a predilection for juvenile females, previously reported only very rarely. In conjunction with a review of the literature, this case suggests that this phenotype ...
Ivan Cristina S - - 2005
We describe a rare case of adult-onset neuronal ceroid lipofuscinosis (NCL) type B with probable autosomal dominant inheritance, exhibiting behavioral and cognitive abnormalities and extrapyramidal findings. Ultrastructural examination revealed abundant fingerprint profiles in several cell types. To our knowledge, this is the first reported case of an African-American with adult-onset ...
Mozo Julien - - 2005
Mammals and birds are endotherms and respond to cold exposure by the means of regulatory thermogenesis, either shivering or non-shivering. In this latter case, waste of cell energy as heat can be achieved by uncoupling of mitochondrial respiration. Uncoupling proteins, which belong to the mitochondrial carrier family, are able to ...
Forzano Francesca - - 2005
Sternal fusion defects are malformations that often present as an isolated finding. An association with multiple malformations has been reported, in particular with midline raphe and craniofacial hemangiomas and as part of the pentalogy of Cantrell. Most syndromic cases were sporadic with a few families reported with recurrence in sibs. ...
Clarke Angus - - 2005
Patients attending genetic clinics are often the main gatekeepers of information for other family members. There has been much debate about the circumstances under which professionals may have an obligation, or may be permitted, to pass on personal genetic information about their clients but without their consent to other family ...
Sáenz Ana María - - 2005
We describe an 11-year-old girl with a persistent pruritic papular eruption on the vulva. Clinically, the lesions consisted of whitish papules and erosions located on the inner aspect of the labia majora. There was no familial history of skin diseases. Histologically, a biopsy specimen showed difuse hyperkeratosis, parakeratosis, acantholysis throughout ...
Mavinkurve Gaurav G - - 2005
OBJECTIVE: Familial cases of Chiari malformation with syringomyelia are rare. The majority of the reported series and case reports detail sporadic cases. The authors report two siblings who presented with Chiari type I malformation and syringomyelia (CMI+S). CLINICAL PRESENTATION: We report two sisters who each presented with scoliosis on routine ...
Bilgen T - - 2005
BACKGROUND: Detection of the (CGG)n repeats in the FMR1 gene that cause the fragile X syndrome (FXS), has become a milestone for phenotype-genotype correlation in FXS. AIMS: To screen the FMR1 gene CGG repeats in index cases with FXS and their family members in the Antalya Province. SETTING AND DESIGN: ...
Gupta L K - - 2005
Juvenile hyaline fibromatosis (JHF) is a rare, autosomal recessively inherited disorder. We report two siblings with multiple large tumors on the scalp, translucent papules on the nape of the neck, hypertrophic gingiva, and severe flexural contractures of large joints. The histopathology from the skin lesions showed features characteristic of juvenile ...
de la Portilla Fernando - - 2005
Hereditary anal sphincter myopathy is rare. We present a family with one affected member with proctalgia fugax, constipation and internal anal sphincter hypertrophy. Ultrastructural findings show vacuolization of smooth muscle cells without the characteristic polyglucosan inclusion. Further relief of symptoms was obtained using an oral calcium antagonist. Based on clinical ...
Velayati Ali Akbar - - 2005
Two children of the same family were admitted to the pediatric ward with a history of productive cough, nocturnal sweats, and weight loss. On physical examination, lymphadenopathy was seen on both sides of the neck and axillae. The sizes of the lymph nodes varied, and some showed fistula formation with ...
Kavak Ayşe - - 2005
The etiology of pemphigus vulgaris is still unknown. Reported familial cases are indicators of a genetic aspect of the disease. We report a brother and sister with simultaneous onset of pemphigus vulgaris. The class II antigens, HLA DRB1*04 and DQB1*03 were detected in both patients. The oral mucosa was affected ...
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 ...
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