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Gardner Paul A - - 2006
Anterior sacral meningocele (ASM) is a relatively rare, congenital disorder. Usually it presents sporadically, but there are case reports of hereditary ASMs and evidence of a dominant mode of inheritance. In this article the authors describe a case illustrating the hereditary nature of ASM and present available literature on the ...
Al-Alawi Alia S - - 2006
Pulmonary alveolar microlithiasis (PAM) is a rare disease of unknown etiology characterized by intra-alveolar calcium deposits. More than 500 cases were reported in the literature. The disorder affects people at every age beginning from the early childhood. It occurs probably as a result of autosomal recessive transmission. Familial occurrence is ...
Makhlouf A - - 2006
Phosphodiesterase 11 (PDE11) is the latest isoform of the phosphodiesterase family to be identified. Interest in PDE11 has increased recently because tadalafil, an oral phosphodiesterase 5 inhibitor, cross reacts with PDE11. The function of PDE11 remains largely unknown, but growing evidence points to a possible role in male reproduction. The ...
Missouri Department of Health ...
This dyamic report generator allows you to compare statistics from the 2006 Missouri Senior Report from up to five counties on any of the following demographic indicators: Population by Age and Sex , Family Type, Occupied Housing Units,Owner-Occupied Hous
Kanj Nadim - - 2006
This is the first report of a familial cluster of idiopathic pulmonary fibrosis (IPF) in Lebanon. This rare variant of IPF has an autosomal dominant mode of inheritance with variable expressivity, and is commonly associated with a mutation of the surfactant protein C gene. The patients are younger at diagnosis ...
Dimopoulos Vassilios G - - 2006
Familial cases of intracranial ependymomas have been well documented in the literature. The authors present two cases from a family in which three members harbored intracranial ependymomas. A 54-year-old man with fourth ventricular ependymoma underwent resection of the tumor followed by radiation therapy. His son presented at age 36 years ...
Toledo Rafael - - 2006
This review examines the significant literature on the immunology and pathology of intestinal trematodes in their definitive hosts. We emphasize information on selected species in six families for which the literature on these topics is extensive. The families are Brachylaimidae, Diplostomidae, Echinostomatidae, Gymnophallidae, Heterophyidae, and Paramphistomidae. For most of these ...
Pozzati Eugenio - - 2006
The risk of hemorrhage in cavernous malformations (CMs) depends on lesion, host, and environmental factors. Anticoagulation therapy is a well-known risk factor for intracerebral bleeding, but the occurrence of hemorrhages in patients with CMs has not been reported. Low molecular weight heparin therapy is generally considered to be safe, although ...
Hofer Thomas - - 2006
BACKGROUND: A 6-year-old girl with a symmetric linear eruption on both of her legs, clinically and histologically resembling inflammatory linear verrucous epidermal nevus (ILVEN) or linear psoriasis (LP), with concomitant psoriasis of the guttata type and a positive family history of psoriasis is presented. The questions as to whether LP ...
Gadish T - - 2005
We report a case of a 23-year-old Turcot female patient who was first diagnosed as having a pinealoblastoma. Thyroid papillary carcinoma was diagnosed a few months later, and multiple colonic polyps were detected three years after that. A genetic workup revealed an APC gene mutation in her family. Long-term survival ...
Huang Yao-Ting - - 2005
Hereditary angioedema (HAE) is a rare, life-threatening, autosomal dominant disease characterized by recurrent episodes of angioedema, and caused by a deficiency of the plasma protein C1-esterase inhibitor (C1-INH). Clinical manifestation of HAE may first develop during childhood but typically presents around puberty with nonpruritic and non-pitting edema of the subcutaneous ...
Fleckenstein Monika - - 2005
PURPOSE: To report a family with unilateral isolated microphthalmia showing an autosomal recessive pattern of inheritance. CASE REPORT: We report a family in which three out of four children, one male and monozygotic female twins, were born with unilateral isolated microphthalmia to healthy consanguineous parents. One twin additionally had a ...
Carrie E. Schweitzer
Reconsideration of all fossils formerly referred to the Trapeziidae Miers, 1886, suggests that both the Trapeziidae and the morphologically similar Domeciidae Ortmann, 1893, are represented in the fossil record. Two fossil species formerly considered to be trapeziids are referred to the domeciid genus Jonesius Sankarankutty, 1962. New combinations include J. ...
Bragg Thomas W H - - 2006
INTRODUCTION: We report an isolated pedigree in which a consanguineous couple had twin sons with Dandy-Walker malformation (DWM). The mother is similarly affected with the disorder. DISCUSSION: DWM is an abnormality of the central nervous system, which leads to hydrocephalus and is associated with other abnormalities. CONCLUSION: Inheritance of the ...
Plummer C - - 2005
PURPOSE: To present the first genetically supported case of X linked dystonia parkinsonism (XDP) or 'lubag' reported in an Australian hospital. METHODS: We performed PCR amplification of microsatellite markers in and around the previously described segregating region for the XDP haplotype. RESULTS: Linkage was confirmed using markers ZNF261, DXS10017, and ...
Barak Shay - - 2005
We present a case of a premature infant with early-onset necrotizing enterocolitis as the presenting symptom of familial dysautonomia. The diagnosis of familial dysautonomia in the neonatal period is usually rare and difficult, because many of the symptoms may be mild or nonspecific, whereas other characteristic signs and symptoms appear ...
Beaudoin S - - 2005
We herein report the case of three siblings presenting with intestinal malrotation. Their medical history and circumstances of diagnosis are described. Barium meal demonstrated a minor duodenal anomaly in the mother. As far as we can ascertain, this is the third report of isolated familial malrotation in more than one ...
Qu T - - 2005
Atrophia maculosa varioliformis cutis (AVMC) was first described in 1918, as a rarely reported form of idiopathic macular atrophy on the cheeks. Nineteen patients have been reported in the past 86 years. Recently we diagnosed a 25-year-old woman as AMVC and investigated her family history. We collected the clinical data ...
Pavone Piero - - 2005
This report describes a proband and his family consisting of 14 patients affected with simple congenital ptosis. Pedigree suggests an autosomal dominant pattern with 70-90% penetrance. The family includes patients with both unilateral and bilateral involvement, and cases with and/or without complex synkinesia. Left unilateral preponderance is striking, and pedigree ...
Jadhav Meenal Vitthal - - 2005
This report describes a case report of a postmortem performed on a 5-year old patient of Tay-Sachs disease, presenting with failure to thrive, muscular flaccidity, and cherry-red spots on macula on fundoscopy. There was no history of similarly affected sibling or any other family member. The diagnosis was confirmed by ...
Mikol Jacqueline - - 2005
Wilson's disease (WD) with extensive cortico-subcortical lesions represents a rare neuropathological subgroup, the pathogenesis of which is not clearly determined. We report two new cases with identical lesions. In the families of each of the patient, there were mutations in the ATPase7B gene, especially in the family of proband 1, ...
Uimari Outi - - 2006
OBJECTIVE: To study the natural history of myomas in familial cases and to compare the tendencies of myomas between familial and non-familial cases. STUDY DESIGN: Subjects with familial and non-familial myomas were identified from the hospital records and the reliable details of the myomas were collected. RESULTS: In the familial ...
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 Ay┼če - - 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 ...
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