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Results 401 - 450 of 945
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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 ...
Shields D C - - 1999
Recent reports have implicated the "thermolabile" (T) variant of methylenetetrahydrofolate reductase (MTHFR) in the causation of folate-dependent neural tube defects (NTDs). We report herein the largest genetic study of NTD cases (n=271) and families (n=218) to date, establishing that, in Ireland, the "TT" genotype is found in 18.8% of cases ...
Koch R - - 1999
In recent years, 16 cases involving the association between Lhermitte-Duclos disease (LDD), which is a hamartomatous overgrowth of cerebellar tissue, and Cowden's syndrome (CS), an autosomal-dominant condition characterized by multiple hamartomas and neoplasias, have been reported. LDD may be one of the manifestations of CS. Recently, mutations of the PTEN/MMAC ...
Ahmed H - - 1999
A very rare form of heredofamilial spinocerebellar degenerative disorder is reported in a 12-year old boy and his 39-year old Fulani mother. The two cases were compatible with the clinical picture of Harding's variant of spastic ataxia of childhood--a clinical and genetic entity distinct from the more common Friedreich's ataxia. ...
Ozuner G - - 1999
PURPOSE: Desmoid tumors are rare occurrences. However, they are more commonly seen in patients with familial adenomatous polyposis. The purpose of this article is to review three cases of abdominal desmoids in association with adrenal, ovarian masses, leiomyoma, and neurologic involvement in three sisters with familial adenomatous polyposis. METHOD: A ...
Justesen C R - - 1999
The authors present a case of Hallervorden-Spatz disease (HSD) in a 10-year-old boy treated with stereotactic pallidotomy for control of severe dystonia. Hallervorden-Spatz disease is a rare type of neuraxonal dystrophy that can be familial or sporadic. This is the first case of HSD reported in the literature in which ...
Oyama M - - 1999
We report a Japanese family with dyschromatosis symmetrica hereditaria (DSH) (MIM 127400 in McKusick's Mendelian Inheritance in Man), a rare autosomal dominant genodermatosis, predominantly occurring among Japanese and Korean individuals. Members of the present family affected with the disease showed a mixture of hyperpigmented and hypopigmented macules distributed on the ...
Malhotra S - - 1999
A case study of a 12 year old child evidencing psychogenic cough is presented. The importance of behavioral and family factors in maintaining such cough and an integrated psycho-behavioral approach at management are described. A 1 year follow-up revealed a rapid and complete elimination of psychogenic cough and good adjustment.
Maillefer R H - - 1999
Tylosis is a rare, autosomal dominant syndrome presenting with hyperkeratosis of the palms and soles of the feet. Two types have been identified. Late onset tylosis (type A) is reported to be associated with a high incidence of esophageal carcinoma, whereas early onset tylosis (type B) appears to be a ...
Schwartz I V - - 1999
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient with atypical ...
Myles-Worsley M - - 1999
We are studying the genetic etiology of schizophrenia in the Republic of Palau, a remote island nation in Micronesia that has been geographically and ethnically isolated for approximately 2,000 years. The first epidemiological phase sought to estimate the lifetime prevalence of schizophrenia and evaluate the familiality of the illness based ...
Busch N L - - 1999
BACKGROUND: Duane's retraction syndrome (DRS) has been described as a clinical entity for more than a century. Although the majority of cases occur spontaneously, some cases of DRS are inherited. CASE REPORTS: A young Romanian boy with a known left abduction deficit was determined to have DRS. On thorough examination ...
Zhang F - - 1999
OBJECTIVE: To investigate the incidence of nasopharyngeal carcinoma (NPC) and the clinical characteristics in this family through a long-term follow-up, and to seek the hereditary factor of NPC. This research was also designed to provide some clinical data for etiological study. METHODS: A genealogical tree of Ye-Liang's family was drawn ...
Vital C - - 1999
OBJECTIVE: About 8% of prion disease cases are familial and a few are due to an octapeptide repeat insertion (OPRI) in the prion protein gene. A suitable neuropathological examination has been performed in 20 cases from 9 families and in 3 isolated cases. The number of OPRI ranges from 4 ...
Inoue T - - 1999
This is a rare case of bilateral symptomatic os vesalianum in a 13-year-old girl whose mother had the same condition unilaterally. We performed osteosynthesis and bone grafting instead of a simple resection to preserve the peroneus brevis tendon, with excellent results.
Murata J - - 1999
We report a case of dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease, LDD). The patient also had cutaneous and mucosal hamartomas, adenomatous goiter, bilateral breast tumors, and gastrointestinal polyposis, indicating the diagnosis of Cowden disease (CD), the familial hamartoma syndrome. This was a rare sporadic case without any family history ...
Agnifili A - - 1999
A case of juvenile polyposis is reported and 271 cases are collected from the literature. The risk for neoplasia is analyzed and the endoscopic or surgical therapy is discussed. The authors conclude that juvenile polyposis should be considered as a challenge to the surgeon with regard to familial adenomatous syndromes, ...
Vetter R S - - 1998
This is the first report of clinically significant bites by the grass spider (Agelenopsis aperta). Two cases of envenomation in southern California are presented. In the more serious case, a child exhibited several envenomation symptoms. Although this spider may be generally innocuous, it should be considered as a creature of ...
Selzman C H - - 1998
In addition to classic vascular insults such as inflammation, trauma, malignancy, and surgery, a number of hereditary coagulation defects predispose patients to a wide array of thrombotic complications. A novel genetic defect in factor V allowing for resistance to its cleavage by activated protein C has recently been implicated in ...
Paquis P - - 1998
Syringomyelia is a rare, mainly sporadic disease of the spinal cord, which is associated with 80% of cases in which a Chiari Type I malformation is also present. A mendelian transmission of syringomyelia (autosomal dominant or recessive) has been proposed in approximately 2% of reported cases. The association of syringomyelia ...
Amin-Hanjani S - - 1998
Familial intracranial arteriovenous malformations (AVMs) are rare. We describe a father and son both presenting in childhood with cerebral AVMs. Both patients underwent successful surgical extirpation of the AVM. Familial AVMs present at a young age and tend to be multiple, as was the case in one of our patients. ...
Piacenza J M - - 1998
The case of a young primiparous woman with defibrillator-assisted familial hypertrophic cardiomyopathy (HCM) has led us to review the literature on this pathology, which is exceptional because of its scarcity and the originality of the problems encountered. To our knowledge, this is the first observation ever reported of defibrillator-assisted activation ...
Kamekura M - - 1998
In this review, the history of the classification of the family Halobacteriaceae, the extremely halophilic aerobic Archaea, is reviewed with some emphasis on the recently described new genera Halobaculum, Halorubrum, Natrialba, Natronomonas, and "Haloterrigena." Speculation is made about the evolutionary relationship between members of the Halobacteriaceae and the extremely halophilic, ...
Neumann L - - 1998
Published cases of familial unilateral terminal transverse defects are scarce. We report on a morphologically similar defect of the hand in a father and his daughter. The hand anomaly is similar in both, but on the opposite side. Thalidomide was taken in the sensitive period of the pregnancy by the ...
Anderson P J - - 1998
Nasal dermoid cysts are congenital malformations which result from anomalous embryological development. Two cases occurring in siblings are presented. There have been several previous reports that the condition may be familial but in this report the initial suspicion of the milder anomaly in the younger child was raised primarily because ...
Vital C - - 1998
We studied modifications of the molecular layer of the cerebellum in three patients with octapeptide repeat insertion (OPRI). Two brothers carrying a six-OPRI showed only spongiosis in haematoxylin & eosin preparations (H&E), whereas immunocytochemical examination (ICC) with an antiprion protein (PrP) antibody revealed numerous elongated PrP deposits. The third patient ...
Bergeron C - - 1998
Corticobasal ganglionic degeneration (CBGD) and progressive supranuclear palsy (PSP) were originally described in the sixties as predominantly motor syndromes. Over the years, the detailed study of additional cases of CBGD has shown that it is a distinctive histological entity which can often present as dementia or aphasia. Although some pathological ...
Abramson D H - - 1998
A retrospective chart review was performed on the charts of 1265 patients with retinoblastoma who were on file at New York Hospital and whose conditions had been diagnosed between the years 1960 and 1990. The mean follow-up was 90 months, ranging from 0 to 409 months. Thirty-two distinct presenting signs ...
Guerrini R - - 1998
Paroxysmal tonic upgaze of childhood with ataxia is a rare form of age related dystonia. Out of 12 previously reported cases, three had a clinical history of similar symptoms occurring in at least one first degree relative belonging to the same or two consecutive generations. Autosomal dominant inheritance was therefore ...
Mandorla S - - 1998
Atrial septal defect of the ostium secundum type is almost always sporadic, with multifactorial inheritance. We report a case of a family in which atrial septal defects of the ostium secundum type with atrioventricular conduction defects were observed in four generations: five proven cases and two probable cases. Ten families ...
Atkinson J L - - 1998
OBJECTIVE AND IMPORTANCE: A case of familial Chiari I malformation and a review of the literature are presented. Recent posterior fossa morphological studies suggest that the sporadic variant of adult Chiari I malformation may be caused by occipital dysplasia and overcrowding of posterior fossa contents. This analysis was applied retrospectively ...
Ruggieri M - - 1998
A case of solitary osteoma of the parietal skull is described in a mother and her 12-year-old son. There were no other craniofacial or dysmorphic features and there was no history of previous cranial trauma or inflammatory process and no radiographic evidence of other skeletal lesions in both patients. Family ...
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