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Results 301 - 350 of 945
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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 ...
James Paul A - - 2003
Cerebro-costo-mandibular syndrome is characterized by the Pierre-Robin anomaly, multiple rib defects and the occasional occurrence of intellectual impairment. Over 60 cases have been reported, nearly half of which are familial. We report an infant and her father with typical features of CCMS. The child was diagnosed on prenatal ultrasound and ...
Barsaul Meenakshi - - 2003
Copper-T remains the mainstay of family planning measures in developing countries but is associated with serious complications like bleeding, perforation and migration to adjacent organs or omentum. Patients with misplaced intrauterine contraceptive device (IUCD) may present with pregnancy or lost strings or may remain asymptomatic for years. In our series ...
Travis L. DeVault
Although it is widely known that most species of snakes readily accept carrion in captivity, the notion of scavenging by wild snakes historically has been rejected or ignored. Herein, we review the literature describing instances of scavenging by snakes and consider the implications of carrion use on their ecology. Thirty-nine ...
Yabe Ichiro - - 2002
We reported on syringomyelia in a mother and her son. The mother was 74-year-old, who developed gait difficulty at the age of 54. The son, 47-year-old, developed the same symptoms at the age of 35. In the both cases, MRI revealed syringomyelia with Chiari malformation. Twenty-one families with syringomyelia have ...
Coppens Patrick - - 2002
This study presents a thorough analysis of published crossed aphasia (CA) cases, including for the first time the cases published in Japanese. The frequency of specific symptoms was determined, and symptomatology differences based on gender, familial sinistrality, and CA subtype were investigated. Results suggested that the CA population is comparable ...
Schmieder S - - 2002
Amphibians have provided important model systems to study transepithelial transport, acid-base balance and cell volume regulation. Several families of chloride channels and transporters are involved in these functions. The purpose of this review is to report briefly on some of the characteristics of the chloride channels so far reported in ...
Lampe A K - - 2002
Neurofibromatosis type 1 with dysmorphism and developmental delay is reported in a mother and two children. The son required treatment for a prostatic rhabdomyosarcoma. His sister has an optic pathway glioma. Fluorescence in situ hybridisation confirmed a submicroscopic deletion at 17q11.2. New evidence suggests an increased malignancy frequency in microdeletion ...
Lynch Henry T - - 2002
Leukemia is manifested in about 1-2% of people in Western industrialized nations. The most common form of leukemia is B-cell chronic lymphocytic leukemia (B-CLL), which accounts for approximately 30% of all cases. While CLL's etiology remains elusive, there is increasing evidence that substantially supports the role of hereditary factors in ...
Galvin J E - - 2002
Familial cases of dementia with Lewy bodies (DLB) are rare. The authors describe two small kindreds with familial DLB: one with pure DLB meeting consensus criteria for DLB and one with coexistent AD pathology that did not fulfill DLB criteria. The authors call attention to the diverse features of DLB ...
Hofnung Maurice - - 2002
Two nitrofurans present broad-spectrum antimicrobial properties and some of them are used in human and veterinary medicine. Most of these molecules are mutagens and some of them were reported as carcinogens. Due to its extreme mutagenic potency in bacteria, the nitronaphtho derivative 2-nitro-7-methoxy-naphtho[2,1-b]furan (R7000) was used as a tool to ...
Valente E M - - 2002
The Parkin gene is responsible for about 50% of autosomal recessive juvenile parkinsonism (ARJP) and less than 20% of sporadic early onset cases. We recently mapped a novel ARJP locus (PARK6) on chromosome 1p. Linkage to PARK6 was confirmed in 8 families from 4 different European countries. These families share ...
Bandello F - - 2002
PURPOSE: To report a case of monolateral preretinal fibrovascularproliferations in a young adult woman, who had suffered from incontinentia pigmenti (IP) during her first month of life. METHODS: Case report. RESULTS: Circumscribed preretinal fibrovascular proliferations, adjacent to a mid-peripheral area of snail track degeneration, were occasionally diagnosed in the left ...
Gomes Mônica Fernandes - - 2002
Albright hereditary osteodystrophy is a hereditary metabolic disorder of dominant autosomal etiology that is commonly characterized by short stature, round face, small metacarpus and metatarsus, mental retardation, osteoporosis, subcutaneous calcification, variable hypocalcemia, and hyperphosphatemia. In this study, we report a clinical case of a 17-year-old woman with Albright hereditary osteodystrophy, ...
Jaigirdar M Q H - - 2002
Clinical patterns and manner of presentation of vitiligo in 200 cases have been studied. Females have a slightly higher preponderance. Majority (66%) of the patients had generalized vitiligo. Lower extremity was the most common (30%) site of involvement. Family history was positive in 24% of cases. Leukotrichia (44%) and Koebner ...
von Koch Cornelia S - - 2002
OBJECTIVE AND IMPORTANCE: Medulloblastoma is the most common malignant brain tumor and the most common malignant solid tumor in children. Most medulloblastomas are sporadic, but rare familial forms have been described. To the best of our knowledge, only 10 case reports of familial medulloblastoma have been published. A variety of ...
Khumalo N P - - 2002
We report two cases of keratosis follicularis spinulosa decalvans in a Caucasian family involving a 28-year-old woman and her mother. This is an unusual family in that no male relatives are similarly affected. Secondly, both patients have no significant eye changes but quite extensive scarring alopecia. To the best of ...
Hu Weimin - - 2002
Acrokeratoelastoidosis of Costa is a rare papular palmoplantar keratosis characterized by small round-oval to rhomboid-shaped, yellowish papules most commonly localized to the palmar surface of the hands and sometimes also found on plantar surfaces of the feet. Both autosomal dominant and sporadic forms of the disease have been reported. Histologically ...
Kaur Sukhjot - - 2002
Rarely, different variants of porokeratosis may coexist in an individual patient or their family members. A patient with the linear form of porokeratosis present since birth subsequently developed the disseminated superficial actinic form at a later age. A review of the literature pertaining to the coexistence of variants of porokeratosis ...
Zeesman Susan - - 2002
Myotonic dystrophy type 1 (DM1) is an autosomal dominant trinucleotide repeat disorder that shows anticipation. The mildest manifestations of the DM gene are usually noted in individuals with the smallest repeat sizes, while congenital myotonic dystrophy (CDM) is the most common clinical outcome of the larger expansions. For many years, ...
Miwa Hideto - - 2002
We describe clinical characteristics of 10 patients (five families) with familial hemifacial spasm, with reviews of 13 patients hitherto reported in the literature. There is no clear difference in clinical manifestations between sporadic and familial hemifacial spasms. There is no definite inheritance pattern, but may be autosomal dominant with low ...
CHRISTOPHER A. PEARL
Toads of the genus Bufo co-occur with true frogs (family Ranidae) throughout their North American ranges. Yet, Bufo are rarely reported as prey for ranid frogs, perhaps due to dermal toxins that afford them protection from some predators. We report field observations from four different localities demonstrating that Oregon spotted ...
Visser R - - 2002
Two cases of hypertrichosis cubiti in combination with short stature, facial dysmorphias and retarded development are reported with a review of the literature. Hypertrichosis cubiti, the hairy elbows syndrome, consists of a localized form of long vellus hair on the extensor surfaces of the distal third of the upper arm ...
Kiliç Zübeyir - - 2002
Most cases of atrial septal defect occur sporadically, but a few families have the defect as a genetic abnormality. A family having familial type secundum atrial septal defect with dysrhythmia associated with web neck is reported. In this family, two female siblings aged 11 (Case 1) and 4 years (Case ...
Ozyürek Hamit - - 2002
Ichthyoses are divided into four groups according to clinical, histopathologic and genetic findings. Lamellar ichthyosis is one of them. The incidence of lamellar ichthyosis is believed to be approximately 1 per 100,000 to 300,000 live births. It is characterized by large, polygonal, grayish brown, and tightly adherent scales. We report ...
Wakeling Emma L - - 2002
We report a family in which two sisters had three male fetuses with isolated Dandy-Walker variant (DWV) diagnosed on antenatal ultrasound. DWV is one part of a spectrum of abnormalities related to Dandy-Walker malformation (DWM) which commonly occur in association with other anomalies with or without chromosome abnormalities. The majority ...
Oriola J - - 2002
Medullary thyroid carcinoma (MTC) occurs both sporadically and in the autosomal dominantly inherited multiple endocrine neoplasia (MEN) type 2 syndromes. The distinction between both is important for future clinical management. We report a family initially described as a familial MTC by pentagastrin stimulation test and clinical outcome, in which we ...
Viot Géraldine - - 2002
Osteopathia striata with cranial sclerosis (OS-CS) is a rare syndrome comprising macrocephaly, minor anomalies, conductive hearing loss, and mild mental retardation. The diagnosis is based on radiological findings, including cranial sclerosis and longitudinal striations of metaphyses of long bones. Here we report on 10 new cases of OS-CS, including two ...
Darvishian Farbod - - 2002
We report an autopsy case of a 35-yr-old man with familial visceral myopathy, a cause of primary intestinal pseudo-obstruction. The patient died from complications of familial visceral myopathy, sepsis, and generalized signet-ring cell carcinomatosis. The patient had massive distension of the large and small intestines, a dilated thickened esophagus, and ...
Serdaroglu Gül - - 2002
Hemiplegic migraine is defined by the occurrence of migraine during attacks of unilateral weakness. Neurologic symptoms last for 15 to 60 minutes in most cases. Attacks usually start in childhood, adolescence, or early adulthood. Diagnosis may be delayed if there is no relevant family history. A 16-year-old girl who was ...
Ergin Cagri - - 2002
Mal de Meleda is a rare autosomal recessive form of palmoplantar keratoderma characterized by hyperkeratosis of the palms and soles. The presence of yeast and dermatophytes was investigated in 29 mal de Meleda patients from Koprucay canyon, Turkey, a newer geographical focus, and was found in 62.0% and 20.7% of ...
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