Search Results
Results 251 - 300 of 978
< 1 2 3 4 5 6 7 8 9 10 11 >
Zahedi Rayhaneh G - - 2006
We report an illustrated case of a 61-year-old woman with multiple atrial myxomas and cutaneous hyperpigmentation as part of the Carney complex. The case is notable for an unusually late presentation in life and a strong family history of atrial myxomas and sudden death. The importance of regular life-long echocardiographic ...
Daly A F - - 2006
CONTEXT: Familial pituitary adenomas occur rarely in the absence of multiple endocrine neoplasia type 1 (MEN1) and Carney complex (CNC). OBJECTIVE: Our objective was to characterize the clinical and genealogical features of non-MEN1/CNC familial isolated pituitary adenomas (FIPA). DESIGN AND SETTING: We conducted a retrospective study of clinical and genealogical ...
Danes Vera - - 2006
This paper is a casuistic presentation of a clinical case of an adolescent with behavioural disorder. Unelaborated aggressiveness dominates the clinical picture. The case history, the plan and the course of the therapy are included. The paper concludes with the elaboration of psychodynamics attitude, which has close ties with the ...
Szewka Aimee J - - 2006
This report presents three families with Chiari malformation type I that became symptomatic during childhood: a mother and son; a set of monozygotic twins; and two half-siblings and their two maternal cousins. These children presented with various symptoms, including headache, stiff neck, and swallowing difficulty. A review of the relevant ...
Vikelis Michail - - 2006
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease clinically characterized by migraine, subcortical ischemic events, dementia and mood disorders. We present a short review of the literature on the clinical presentation of patients with CADASIL and provide recommendations for the detection and diagnosis of ...
Malathi B G - - 2006
Fibromatosis is a group of disorders characterized by infiltrating fibroblastic proliferation. Among them Juvenile hyaline fibromatosis (J.H.F) is a rare, progressive, crippling autosomal recessive disorder diagnosed based on the characteristic clinicopathological findings of generalized cutaneous nodular lesions, gingival hypertrophy, flexion contractures of large joints with osteolytic lesions, and proliferating fibroblasts ...
Tatarnic Nikolai J - - 2006
In traumatic insemination, males pierce females with hypodermic genitalia and ejaculate into the body cavity rather than into the genital tract. This has resulted in the evolution of female counter-adaptations in the form of paragenitalia to reduce the direct physical costs of mating. While rare in the animal kingdom, traumatic ...
Arcangeli Fabio - - 2006
Infantile myofibromatosis (IM) is a rare mesenchymal disorder characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. Although most cases are sporadic, there have been a few reports of a familial pattern of inheritance. In most cases, diagnosing IM is not difficult. However, IM ...
Aggarwal Anju - - 2006
Juvenile amytrophic lateral sclerosis (JALS) is a type of motor neuron disease presenting before 25 years of age. It is characterized by a combination of upper and lower motor signs. It may be familial or sporadic. We are reporting a sporadic case of JALS with onset of symptoms at 4 ...
Yucetas Sule - - 2006
This report represents the suspected familial case series of odontogenic keratocysts OKCs related to Gorlin Goltz syndrome GGS, a rare genetic disorder characterized mainly by multiple basal cell carcinomas, OKCs and other less frequent skeletal and neurological manifestations. Familial cases included grandmother's father, grandmother, father and son. Although they had ...
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 A Barnard College of Columbia University, Department of Psychology, 3005 Broadway, New York, NY 10027, - - 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 ...
< 1 2 3 4 5 6 7 8 9 10 11 >