Search Results
Results 201 - 250 of 976
< 1 2 3 4 5 6 7 8 9 10 >
Vijan Sandeep S - - 2008
OBJECTIVE: To report a case of a woman with poorly controlled hypertension who was found to have multiple paragangliomas and mutation in the B subunit of succinate dehydrogenase (mitochondrial complex II). METHODS: The pathogenesis of familial paragangliomas and case management are discussed, and the relevant literature is reviewed. RESULTS: In ...
Saito Y A - - 2008
Irritable bowel syndrome (IBS) runs in families. Prior family studies surveyed patients inquiring about family history without surveying family members. The stigma associated with IBS may lead relatives to not share information with others,resulting in underestimates of familial aggregation of IBS. The aim of the study was to evaluate the ...
Kumar Gogi - - 2009
We report a case of familial hemiplegic migraine with prolonged aura where multimodality imaging showed hemispheric cytotoxic edema along with evidence of hypometabolism in the affected hemisphere while there was no evidence of hypoperfusion of the affected hemisphere demonstrating that neuronal depression is a more plausible explanation in its pathogenesis.
Hatoum Hilana A - - 2008
Hemiplegic migraine is a rare form of migraine variant. It is characterized by recurrent attacks of headache associated with temporary neurological deficit, usually unilateral hemiparesis or hemiplegia. It can be difficult to distinguish from migrainous stroke clinically, and a full neurological work-up and careful review of medical history and symptoms ...
Thomas C L - - 2008
Porphyria cutanea tarda (PCT), the most common of the porphyrias, is a mainly acquired disease of the liver, which manifests with bullous skin lesions. However, up to 20% of patients with PCT, usually those with chronic untreated disease, are reported to develop some sclerodermatous changes that may affect both light-exposed ...
Kadlub Natacha - - 2008
Lambdoid craniosynostosis is an uncommon condition, with an incidence of 1 per 33,000 live births. Its etiopathology remains controversial. Although many forms of syndromic and nonsyndromic craniosynostosis demonstrate an inherited pattern, few articles have reported lambdoid craniosynostosis in the same family. In this article, we report lambdoid synostosis in a ...
Kropp, Roy K
The coral gall crabs, Family Cryptochiridae, occurring in the Pacific Ocean are reviewed. Fifteen genera, including four new genera, are recognized: Cryptochirus Heller; Dacryomaia, new genus; Fizesereneia Takeda & Tamura; Fungicola Serene; Hapalocarcinus Stimpson; Hiroia Takeda & Tamura; Lithoscaptus Milne Edwards; Neotroglocarcinus Takeda & Tamura; Opecarcinus Kropp & Manning; Pelycomaia, ...
Sari Ayça - - 2008
We report 3 siblings from a nonconsanguineous white family with bilateral persistent pupillary membranes with dissimilar forms of severity. Two of the patients required no treatment; 1 was treated surgically for occlusion of the pupillary axis and moderate visual acuity decrease. Anterior segment examination was otherwise normal in the siblings. ...
Kabashima Kenji - - 2008
"Nagashima-type" keratosis is characterized by transgressive and nonprogressive palmoplantar keratoderma (PPK) with an autosomal recessive trait. Because its clinical manifestations are similar to but milder than those of mal de Meleda, it was originally described as a mild form of Meleda-type PPK. Since then, about 20 cases have been reported ...
Abdel-Aleem Alice - - 2008
We describe an Egyptian family having SCA2 affecting three generations with marked molecular and clinical anticipation observed in the index case. Our proband was a male child starting as early as 2 years old with progressive extrapyramidal manifestations, slow eye movements and cognitive impairment. A history of nonspecific mild developmental ...
McGoey Robin R - - 2008
Adams-Oliver syndrome (AOS) is a well-known rare syndrome of cutis aplasia in combination with limb defects. Recent reports have been published discussing the clinical variability and apparent genetic heterogeneity seen in some affected individuals and families with particular attention made to the possible existence of an autosomal recessive variant of ...
Chiò A - - 2008
BACKGROUND: Five to 10% of amyotrophic lateral sclerosis (ALS) cases are reported to be familial (FALS), and mutations of SOD1 account for 20% of these cases. However, estimates of SOD1 mutation prevalence have been exclusively based on case series and clinic referral cohorts. OBJECTIVE: To assess the frequency and nature ...
Tan Uner - - 2008
The aim of this study was to describe additional patients (n= 3) exhibiting the Unertan syndrome (UTS), resident in rural areas of Canakkale. The 8th and 9th families with the UTS, with a total of 16 members affected, have not been previously characterized. A single, non-familial case (Bayramic, Canakkale) occurred ...
Jenkins David A - - 2008
Twenty fruit species representing 12 families were collected from various regions in western Puerto Rico and monitored for the emergence of Anastrepha spp. pupae. We collected 14,154 tephritid pupae from 16 fruit species representing 10 families. The relative infestations of these fruits (pupae per kilogram of fruit) were recorded. Recorded ...
Vu Thien-Tuong-Vi - - 2008
To describe genetic susceptibility in the first familial clustering of parotid gland lymphoepithelioma reported in North America. Retrospective study. Tertiary care institution with outreach to northern Quebec. Chart, family history, literature review, and c-kit assay. C-kit assay. Four family members of both sexes over two generations had lymphoepithelioma of the ...
Douna Varvara - - 2008
Hb Adana is a highly unstable and rare alpha-globin hemoglobin (Hb) variant, to date described in only three families, in interaction with other alpha-thalassemia (alpha-thal) deletions. We describe the clinical and hematological findings in two cases from independent families of Albanian origin, who have an interaction of the codon 59 ...
Burgess Ann Wolbert - - 2008
An exploratory study of 284 cases of alleged elder sexual abuse revealed fairly equal numbers of reports to the criminal justice system (CJS) and to Adult Protective Services (APS). Comparison of these two routes of reporting indicated the following: Suspected victims reported to APS were more likely to reside in ...
Sisson James C - - 2008
Hyperparathyroidism and/or parathyroid hyperplasia, medullary thyroid carcinoma (MTC), and pheochromocytomas compose the hallmarks of the multiple endocrine neoplasia type 2A (MEN 2A) syndrome. Revisiting a report in 1939 of a patient with hyperparathyroidism and parathyroid hyperplasia led to a search for evidence of MEN 2A. From medical records and discussion ...
Tremolizzo L - - 2007
Here we report the case of a 73-year-old Italian woman affected by genetically confirmed oculopharyngeal muscular dystrophy (OPMD) with a negative family history. As OPMD is usually transmitted as an autosomal-dominant meiotically stable trait, this case allows us to suggest that putative de novo OPMD mutations might occur more frequently ...
Padovani Davide - - 2007
OBJECTIVE: We review two cases of non tuberculous mycobacteria infections of the parotid region in members of the same family. The parotid region represents a peculiar location for the disease and it is exceptional to discover cases in members of the same family. METHODS: Two unusual case reports of non ...
Dodd-McCue Diane - - 2007
BACKGROUND: Previous research has examined the differences in organ donation consent rates between African Americans and other racial/ethnic groups. However, there is limited examination of whether differences exist between African American families that consent and those that do not. OBJECTIVE: To examine if there are significant differences between African American ...
Zhu-Tam Lily Y - - 2007
BACKGROUND: Duane's retraction syndrome (DRS) is a congenital oculomotor anomaly that is accompany by globe retraction with simultaneous narrowing of the palpebral fissure on attempted adduction. Hereditary factors have been postulated to be associated with the development of DRS since 1879. However, the modern literature fails to provide substantial scientific ...
Lall Anupam - - 2007
We present the case of an 11-year-old girl with hereditary hemorrhagic telangiectasia who presented with recurrent macroscopic hematuria secondary to bladder vascular abnormalities. This case illustrates the importance of taking a detailed clinical and family history and cystoscopic examination at the time of active hematuria in cases where recurrent hematuria ...
Dodson Kelley M - - 2007
Delayed endolymphatic hydrops (DEH) is a unique disorder characterized by fluctuating otologic symptoms in the setting of preexisting unilateral deafness. The symptoms include aural fullness, fluctuating hearing, and/or episodes of vertigo similar to those observed in Meniere disease and may occur ipsilateral or contralateral to the previously deafened ear. In ...
Dabir Tabib - - 2007
Primary hypertrophic osteoarthropathy is a condition characterized by clubbing, arthropathy and periostosis of long tubular bones. Three variants of primary hypertrophic osteoarthropathy are distinguished: pachydermoperiostosis, which shows as additional symptom pachydermia; cranio-osteoarthropathy, which has a decreased neurocranium ossification as additional feature; and a secondary form. Primary hypertrophic osteoarthropathy is also ...
Papadogiannakis E - - 2007
The aim of this report is to present a case of severe skin ulceration and cellulitis in a seven year old mongrel dog following cystitis. The Providencia stuartii strain was the only isolate from skin lesions. This bacterium is a Gram-negative rod belonging to the family of Enterobacteriaceae. To the ...
Gopal M - - 2007
Sacrococcygeal teratoma (SCT) can be sporadic or familial and there appear to be different characteristics to these entities. It can be an isolated anomaly or occur as part of the Currarino triad, when it is associated with anorectal malformations and sacral anomalies. We present a case of familial sacrococcygeal teratoma ...
Koch A D - - 2007
Diverticulosis of the jejunum is a rare finding (0.06 to 1.3%). Possible complications are bacterial overgrowth, malabsorption, bleeding, mechanical obstruction, volvulus and perforation. At present only one case report on familial jejunal diverticulosis has been published. We describe three patients with jejunal diverticulosis within one family, which might suggest inheritance.
Raptis Lampros - - 2007
The authors describe 3 histologically confirmed cases of temporal arteritis occurring in three siblings aged 62-72 years old, diagnosed from 1999 to 2005. Chapel Hill publication surrogate parameters combined with the American College of Rheumatology criteria for vasculitis were used in the diagnostic procedure. The diagnosis of temporal vasculitis was ...
Zein Emile F - - 2007
INTRODUCTION: Subacute thyroiditis (SAT) is a spontaneously remitting inflammatory disorder of the thyroid that is presumed to be virally induced in genetically predisposed individuals. A strong association has been suggested between human leukocyte antigen (HLA)-B35 and patients who developed SAT. However, familial occurrence of SAT associated with HLA-B35 is reported ...
Sjoberg Gunnar - - 2007
We report a case of familial contracted endocardial fibroelastosis (EFE) in a young boy presenting at 14 months of age with severe heart failure. A previous echocardiogram showed normal left ventricular (LV) size and systolic function. The family history was suggestive of X-linked cardiomyopathy. These findings are assessed in light ...
Martinovic-Bouriel Jelena - - 2007
We describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and diaphragmatic defect. This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym "PMD" (Pulmonary agenesis, Microphthalmia, Diaphragmatic defect). Fewer than ten pre- and perinatal diagnoses of Matthew-Wood syndrome have been described to date. The cause ...
Wang Zhaoxia - - 2007
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessively inherited lipid storage disorder with multiple system involvement and has been reported worldwide. Here we report a Chinese family with CTX and present the pathological findings within peripheral nerves and CYP27A1 gene mutation analysis. We also review the published literature to discuss ...
Gucuyener Kivilcim - - 2007
Hereditary spastic paraplegia is composed of a heterogeneous group of neurodegenerative disorders and is classified as pure or complicated due to its clinical variability. Autosomal recessive hereditary spastic paraplegia with hypoplastic corpus callosum is a rare form of complicated hereditary spastic paraplegia. In complicated hereditary spastic paraplegia, autosomal dominant, autosomal ...
Ruiz-Maldonado Ramon - - 2007
Keratosis lichenoides chronica (KLC) is a rare acquired disease of adulthood, of unknown etiology, characterized by keratotic parallel linear lesions, retiform plaques, and keratotic, often follicular papules, chronicity and lichenoid histopathologic features. KLC of pediatric onset is considered extremely rare. Its features and relationship to adult onset KLC are unknown. ...
Prasad Sashank - - 2007
Supranuclear gaze palsies are an uncommon feature of Creutzfeldt-Jakob disease (CJD). Most reported cases of CJD with features of supranuclear gaze palsy are familial. We report 2 patients with supranuclear vertical gaze abnormalities associated with spongiform changes in the midbrain. Both patients were found to have sporadic CJD after genetic ...
Kasper C K - - 2007
In an analysis of 804 haemophilia pedigrees, mild to moderate haemophilia A or B was found to be clearly familial in 70% of cases, severe haemophilia B in 57% of cases and severe haemophilia A in 45% of cases. The rest of the patients were 'sporadic' i.e., either isolated cases ...
Elliott Alison M - - 2007
BACKGROUND: At least five distinct loci have been implicated in split hand foot malformation (SHFM). Establishing genotype/phenotype correlations at the chromosomal level may elucidate responsible developmental genes and improve patient management. In our analysis of previously published genetically mapped SHFM cases, preaxial hand involvement was a significant discriminating variable, most ...
Yuksel A - - 2007
Leroy I-cell disease is a rare autosomal recessive lysosomal storage disorder characterized by marked psychomotor and growth retardation, skeletal anomalies, and typical facial features. There is a biochemical defect in uridine diphospho-N-acetylglucosamine-1-phosphotransferase, which is the enzyme responsible for addition of a mannose phosphate residue for lysosomal trafficking. Prenatal diagnosis is ...
Rosa Michele Marcelino - - 2007
BACKGROUND AND AIMS: Eriocaulaceae (Poales) is currently divided in two subfamilies: Eriocauloideae, which comprises two genera and Paepalanthoideae, with nine genera. The floral anatomy of Actinocephalus polyanthus, Leiothrix fluitans, Paepalanthus chlorocephalus, P. flaccidus and Rondonanthus roraimae was studied here. The flowers of these species of Paepalanthoideae are unisexual, and form ...
Ansari Saeed - - 2006
Occipital dermal sinuses (ODSs) are congenital lesions located in the midline and characterized by a cutaneous pit or dimple. The intracranial extension as well as the associated symptoms are variable. To date, a familial occurrence of these lesions has not been reported. In this paper the authors report on a ...
Elia A E - - 2006
Four hundred and sixty records of patients with primary torsion dystonia (296 women and 164 men) were evaluated. The mean age at disease onset was 48.3 +/- 17.7 years; 13 patients carried the DYT1 CAG deletion. The distribution of age at onset was represented by a bi-modal curve, with a ...
Cabrejo Lucie - - 2006
Different duplications of the APP locus have been identified in five families with autosomal dominant early onset Alzheimer's disease (ADEOAD) and Abeta-related cerebral amyloid angiopathy (CAA). This study describes the phenotype of this new entity. Clinical, neuropsychological, imagery and neuropathological data were reviewed. The phenotype was not dependent on the ...
Fasano Alfonso - - 2006
To investigate the clinical features of early-onset primary torsion dystonia (EO-PTD), 57 consecutive genetically characterized patients with onset before 21 years were studied. Sex, ethnic origin, family history of dystonia, age at onset, disease duration, site of dystonia onset and distribution at latest examination, dystonia progression, time to generalization, and ...
Chak Amitabh - - 2006
BACKGROUND AND AIM: The familial aggregation of Barrett's esophagus, adenocarcinoma of the esophagus, and adenocarcinoma of the gastroesophageal junction, jointly termed familial Barrett's esophagus, may represent a complex genetic trait. The aim of this study was to determine the proportion of patients with these diseases who have familial Barrett's esophagus. ...
Tsuang Debby W - - 2006
Lewy body pathology (LBP) is a common finding in Alzheimer's disease (AD), but the pathophysiology for this coexistent pathology remains unclear. We ascertained late-onset dementia (mean age > 60 years old) families with at least 3 autopsies. We then conducted systematic alpha-synuclein (SNCA) immunostaining to determine the frequency and distribution ...
Hornigold R - - 2006
The Finnish type of familial amyloid polyneuropathy due to variant gelsolin is a rare form of familial amyloidosis. The subtype was first described in 1969 and is characterized by progressive cranial neuropathies, corneal lattice dystrophy and distal sensorimotor dysfunction. It is extremely uncommon, with only two families known to be ...
Hamilton M - - 2006
We present two patients with severe haemophilia A, who presented with haemorrhagic shock, secondary to a liver haematoma in the neonatal period. Both required emergency treatment and diagnosis of the hereditary coagulation defect. Major organ bleeding in severe haemophilia A in the newborn period is rare, and this unusual complication ...
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 ...
< 1 2 3 4 5 6 7 8 9 10 >