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Results 401 - 450 of 977
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Glade-Bender J - - 2001
OBJECTIVE: Fetal and neonatal alloimmune thrombocytopenia (AIT) caused by feto-maternal incompatibility at the HPA-1a (PLA-1) locus is well characterized. Alloimmunization and disease caused by HPA-3a is rare. STUDY DESIGN: We conducted a retrospective analysis of all known cases of AIT caused by HPA-3a incompatibility identified at 3 major reference laboratories ...
Galli-Tsinopoulou A - - 2001
Supernumerary nipples or polythelia are developmental abnormalities located along the embryonic mammary lines. It is the most common form of accessory breast tissue malformation and usually occurs sporadically but familial aggregation has been reported. Polythelia has been reported in association with congenital malformations, in particular with renal anomalies. Polymastia in ...
Castanet M - - 2001
Although a few familial forms of congenital hypothyroidism (CH) due to thyroid dysgenesis (TD) have been reported, this disorder is usually considered to be sporadic. Recently, we reported that 2% of CH patients with TD have a positive familial history. The aim of this study was to describe the clinical ...
Abdelsayed R A - - 2001
Gigantiform cementoma is a rare, benign fibro-cemento-osseous disease of the jaws, seen most frequently in young girls. Radiographically, it typically presents as multiquadrant, expansile, mixed radiolucent-opaque lesions that cross the midlines of the jaws. Although cases with a familial pattern are noted in a few publications, sporadic cases have been ...
Louis E D - - 2001
The proportion of essential tremor (ET) cases that can be attributed to genetic factors is unknown; estimates range from 17--100%. One possible reason for this variability is that clinic and community cases may differ with regard to family history of ET. This is because clinic patients are self-selected and represent ...
Drigo P - - 2001
Benign paroxysmal vertigo of childhood (BPV) is a paroxysmal, non-epileptic, recurrent event characterized by subjective or objective vertigo that occurs in neurologically intact children. We recorded the history and the clinical aspects of 19 cases presenting with neurological problems to the outpatient clinic at the Pediatrics Department of Padova University ...
Kim H S - - 2001
We report on two patients from one family with Marie Unna hypotrichosis who showed a diffuse hair defect which typically occurs as an isolated phenomenon. The ultrastructural hair findings consisted of longitudinal grooving of the hair shafts and a flattening in cross-section. Characteristically, scalp hair had been lost from the ...
Williams T D - - 2001
PURPOSE: The purpose of this case series is to show photographically the varying clinical appearance of granular corneal dystrophy in three generations of one family and to review the genetic basis of this and related conditions. CASE SERIES: We present cases for four affected individuals along with slitlamp biomicroscopic photographs. ...
Seven M - - 2001
The term symbrachydactyly describes syndactyly accompanied by brachydactyly. Brachydactyly is seen in middle phalanges of both hands and feet and very short in length or absent. As for syndactyly it is a cutaneous type. It has always been observed unilaterally and sporadically. A familial type of this syndrome has also ...
Tanboga I - - 2001
Incontinentia pigmenti is a syndrome characterized by both systemic and oral manifestations. Presented here are the dental, clinical, radiological, genetic and dermatoglyphic findings of a 6 year old female case and her family members. The following features were apparent: oligodontia in maxillary and mandibular arches in both dentition, peg-shaped incisors ...
Gupta S - - 2001
Pityriasis rotunda is a rare disease characterized by perfectly round to oval, sharply defined, scaly, hypo/hyperpigmented patches of variable number and size located mainly over the trunk and proximal extremities. More than 95% of the reported cases in medical literature are from three countries/ethnic populations, namely Japan, South Africa (Bantu), ...
Kurosaki M - - 2001
The Currarino triad is a unique complex of congenital caudal anomalies including anorectal malformation, sacral bone abnormality, and presacral mass. In this report, the authors describe three cases with the complete Currarino triad in a family. The authors treated a 30-year-old mother with an anterior sacral meningocele, her 1-year-old son ...
Cilla G - - 2001
From 1981 to 2000 sixty-one cases of human fascioliasis were detected in the province of Gipuzkoa (Spain), most of them during the period of parenchymal invasion. Four family outbreaks were recorded. Thirty, 15, 13 and three cases were detected during the four consecutive 5-year periods. The decrease in this infection ...
Tsukadaira A - - 2001
Monogerminal twin brothers aged 17 were admitted because of concurrent left-sided spontaneous pneumothorax. A familial background of this common disease in association with the human leukocyte antigen (HLA) has been suggested; however, the actual mode of inheritance in association with HLA typing is still uncertain. HLA analysis in this family ...
Halder A - - 2001
The objective of this study was to establish that paucibacillary leprosy also carried increased risk of infection to the community. All members of 100 families with an index paucibacillary case were clinically, bacteriologically and immunologically examined. The "comparison" group was sampled from suspect register. Fifty-six cases occurred among 944 contacts ...
Stelling J R - - 2000
OBJECTIVE: Imperforate hymen is an uncommon anomaly of the reproductive tract, occurring in approximately 0.1% of newborn females. The familial occurrence of imperforate hymen in a child, her mother, and her mother's monozygotic twin is reported. DESIGN: Case report. SETTING: Academic medical center. PATIENT(S): Three affected family members. MAIN OUTCOME ...
Christopher B. Boyko
Rhizocephalan barnacles of the genus Lernaeodiscus Müller, 1862, are uncommon external parasites of galatheid and porcellanid crabs, and most species are poorly known. Based on a thorough review of the literature and examination of new material, we summarize taxonomic and biogeographic knowledge about this genus. We report significant geographic range ...
Ayman T - - 2000
Keratoderma Palmoplantare Transgrediens or mal de Meleda (MDM) is a very rare, inherited disorder. Its name derives from the island of Meleda. Although, MDM has been reported from many different countries, only two Turkish patients with MDM have been reported in the international literature. Our six cases of MDM are ...
van Der Burgt I - - 2000
Most Noonan syndrome (NS) families are compatible with autosomal dominant inheritance with predominance of maternal transmission. Sporadic patients can be explained by new autosomal dominant mutations. Here we report four Dutch NS patients, two male and two female, each with unaffected consanguineous parents. All four had a typical NS phenotype ...
Münchau A - - 2000
Although a family history is described in approximately 20% of patients, large families with adult-onset craniocervical primary (idiopathic) torsion dystonia (PTD) are rare. We report a new British family with cranio-cervical dystonia. Seventeen members of the family were examined. Five cases were diagnosed as definite PTD and one as probable ...
Wheeler C E CE - - 2000
BACKGROUND: An 8-year-old girl presented with hundreds of milia, measuring 1 to 2 mm; comedone-like lesions; skin-colored and hyperpigmented papules on the face, scalp, ears, neck, upper trunk, and lower arms along with diffuse scalp hypotrichosis; and pinpoint palm/sole pits. Onset was in early childhood and the disease was historically ...
Ziereisen F - - 2000
We report the clinical, radiological and electrophysiological signs in two unrelated girls with the connatal form of Pelizaeus-Merzbacher disease (PMD). MRI plays an important role in the diagnosis, demonstrating the virtual absence of myelination. PMD is classically described as an X-linked leukodystrophy. Our two cases reinforce the hypothesis of a ...
Saka E - - 2000
We report a new type of migraine associated epileptic syndrome in a family: adult onset myoclonic epilepsy with benign course and migraine. Affected members of the family had myoclonic and rare generalised tonic-clonic seizures. Most of the patients, but not all, had a history of migraine. Also, some cases of ...
Yamashita I - - 2000
We investigated a consanguineous Japanese family with a complicated form of familial spastic paraplegia (FSP). Three siblings were affected, probably by autosomal recessive inheritance. All showed ataxia, subnormal mentality, congenital cataracts, and slight cerebellar atrophy on CT scans. Spastic paraplegia was predominant in 2 siblings, while ataxia was more marked ...
Middleton S B - - 2000
Desmoids are uncommon proliferations of fibroblasts that occur with disproportionate frequency in patients with familial adenomatous polyposis. They do not metastasize and are histologically benign. Despite this, the unpredictable and often aggressive nature of familial adenomatous polyposis-associated desmoids and their tendency to occur in intra-abdominal sites means that they present ...
Usta I M - - 2000
Pyloric atresia occurs in one in a million births and usually occurs sporadically. We report a family with nine affected members and review the literature for all reported familial cases. The article stresses the possibility of recurrence of pyloric atresia in the progeny of consanguinous parents, with an emphasis on ...
Sharma R - - 2000
Reticulate acropigmentation of Dohi is a rarely reported disorder especially in the Indian literature. We report our findings in eight cases belonging to two different families. It will create awareness about its occurrence in our country.
Hatchwell B J - - 2000
The decision of whether to divorce a breeding partner between reproductive attempts can significantly affect individual fitness. In this paper, we report that 63% of surviving pairs of long-tailed tits Aegithalos caudatus divorced between years. We examine three likely explanations for the high divorce rate in this cooperative breeder. The ...
Milite C P - - 2000
A rare complication of hyperthyroidism consists of sudden diffuse muscle weakness associated with severe hypokalemia. The clinical presentation is similar in most respects to familial periodic paralysis; however, the therapies proven to be effective differ in the two syndromes. A case of thyrotoxic hypokalemic periodic paralysis is presented and the ...
Schrag A - - 2000
The existence of "benign hereditary chorea" (BHC), a rare disorder of childhood-onset familial chorea without other neurologic features or progression, has increasingly been questioned, because many patients with this disorder were subsequently diagnosed with different conditions. We therefore analyzed all published reports of families with BHC and contacted their authors ...
Marshall R P - - 2000
BACKGROUND: Familial cases of cryptogenic fibrosing alveolitis (CFA) have previously been reported; however, the prevalence and genetic background of this disorder are not known. The clinical and epidemiological findings of 25 families identified within the UK are reported. METHODS: Adult pulmonary physicians in the UK were asked to identify all ...
Babalola O E - - 2000
Pedigrees of hereditary disorders are rarely reported from sub-Saharan countries because of difficulties inherent in obtaining reliable family histories, case tracing and follow-up. This report relates to a four-generation family in northern Nigeria with dominantly inherited cataracts associated with recessively inherited sickle cell anaemia. It highlights the need for genetic ...
Liberski P P - - 2000
In this study we examined well fixed brain biopsies of 9 sporadic CJD, 9 iatrogenic CJD cases, 2 hereditary CJD (Gly200Lys and Val203Iso), a case of vCJD and a case of fatal familial insomnia (FFI) from a new French family collected over the years at the Service de Neuropathologie, Hopital ...
Herzig R - - 2000
Cerebral arteriovenous malformations (AVMs) are considered to be congenital disorders. However, their familial occurrence has so far been described in only 19 families in the literature. The authors report on two cases in one family and review the literature. A 45-year-old female subject with sudden onset of headache and vomiting ...
Iinuma Y - - 2000
We describe a male patient presenting with Currarino triad: a recto-urethral fistula, sacral bony deformity, and a presacral teratoma. Clinical screening of his family revealed three additional cases with incomplete forms of this association. Cytogenetic findings in the patient and his mother were normal. This case suggests that the occurrence ...
Jooste P J - - 1999
The group known as the 'flavobacteria' has previously been regarded as synonymous with the genus Flavobacterium. Today, however, flavobacteria refers to the family Flavobacteriaceae comprising 10 genera. This review deals with the rapid changes in the taxonomy of these bacteria, especially over the last decade. It also briefly reviews the ...
Melniczek J R - - 1999
Two related female Norwegian Elkhounds were evaluated at 6 and 8 months of age for enlarged clitori. Both had a 78 XX karyotype. Histology of their internal reproductive tracts demonstrated 1 to be an XX true hermaphrodite with bilateral ovotestes and the other to be an XX male with bilateral ...
Vanita - - 1999
Congenital cataract is a major cause of blindness in children, and there is wide variation in the few reports available on the frequencies of its different inheritance patterns. Two hundred and fifty-two families with congenital cataract belonging to 13 different states of India, were clinically and genetically investigated to study ...
Miller C - - 1999
Through Federal welfare reform, Congress directed states to aggressively enforce statutory rape laws. Family planning professionals deal with many adolescent clients, and their support for such enforcement or willingness to report is unclear. The authors of this study examined current attitudes and practices of family planning program managers (FPPMs) about ...
Lee J W - - 1999
When scientists use DNA evidence in court, coancestry effects such as population structure and relatedness are usually ignored. In paternity cases, only if a particular man has the child's paternal allele at a certain locus, can he not be excluded in the paternity dispute. However, it is certainly true that ...
Ozkan S - - 1999
We report the first case of an acquired form of generalized cutis laxa which has positive serology and a positive polymerase chain reaction (PCR) result for lyme borreliosis. A 44-year-old man complained of excessively loose skin for four years and had no family history of any skin disease. Dermatological examination ...
Boles R G - - 1999
Mutations of mitochondrial DNA are being increasingly recognized as a cause of human disease. Six unrelated children have been evaluated with cyclic vomiting syndrome and a strong maternal family history suggesting a mitochondrial DNA mutation. Manifestations suggestive of migraine were present in each child. Additional clinical findings present in all ...
Müller T - - 1999
Two cases of infantile liver cirrhosis of unknown origin occurred in a circumscribed rural area of Northern Germany. Both children had increased dietary copper exposure. The search for additional cases of what appeared to be idiopathic copper toxicosis (ICT) revealed a cluster of affected infants in this region, raising questions ...
Fyfe S - - 1999
Rett syndrome is a neurodevelopmental disorder that occurs predominantly in girls and results in severe physical and intellectual handicap. A popular genetic mechanism is an X-linked dominant disorder, lethal in males. A case control study design was used to investigate fetal wastage as indicated by reported miscarriage and stillbirth prevalence, ...
Chow T W - - 1999
Previous studies of families with fronto-temporal dementia (FTD) support an autosomal dominant inheritance pattern, but most studies have described genetic transmission in individual families specifically selected for the presence of multiple affected individuals. To investigate the familial presentation and inheritance of FTD and related disorders among a large group of ...
Wang M Y - - 1999
OBJECTIVE: To report on the occurrence of familial nonarteritic anterior ischemic optic neuropathy (NAION) in our NAION series. METHODS: One hundred forty-eight consecutive retrievable cases of NAION were surveyed regarding the occurrence of NAION in other family members. Medical records of affected family members were reviewed, and clinical characteristics of ...
Norman R J - - 1999
The species of Physaloptera Rudolphi, 1819 (Nematoda: Spirurida) occurring in bandicoots (families Peramelidae and Thalacomyidae) in Australia were re-examined and re-described. Physaloptera peramelis Johnston & Mawson, 1939 was found in Perameles nasuta Geoffroy and occasionally in Isoodon macrourus (Gould) in eastern Australia. Ph. peragale Johnson & Mawson, 1940 from Macrotis ...
Louis E D - - 1999
BACKGROUND: In family studies of essential tremor (ET), valid data on the presence of ET in relatives of probands with ET is important. The family history method uses information obtained by interviewing probands with ET to identify ET in their relatives. The validation of this method by direct examination of ...
Kojima K - - 1999
A father and son who both developed chronic neutrophilic leukaemia (CNL) are reported. The father, aged 63, had been exposed to radioactive fallout after the atomic bomb attack on Hiroshima; he presented with hepatosplenomegaly and neutrophilic leucocytosis, and died of intracerebral haemorrhage 1 month after diagnosis. 4 years later his ...
Hashimoto I - - 1999
Dystrophic forms of epidermolysis bullosa (DEB), characterized by mutations in the type VII collagen gene (COL7A1), are inherited either in an autosomal dominant or autosomal recessive fashion, and sporadic, de novo cases have also been reported. Clinically, the dominant forms (DDEB) can be indistinguishable from the mild, mitis forms of ...
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