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Results 451 - 500 of 945
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Wisniewski K E - - 1998
Typically, late infantile neuronal ceroid-lipofuscinosis (LINCL) patients present between the ages of 2 and 4 years with progressive dementia, blindness, seizures, and motor dysfunction. Curvilinear profiles are seen on electron microscopic examination of tissues derived from those patients. Data were collected on 122 LINCL cases, representing 81 independent families, diagnosed ...
Grant G G Centre for Social Policy Research and Development, University of Wales, - - 1998
Supplemented by a case illustration, findings from a study in Wales are reported for the first time from the application of two new instruments for measuring rewards and stresses among family caregivers. The paper takes as its starting point a critique of models of caregiving which emphasize instrumental and pathological ...
Lajeunie E - - 1998
From a series of 1,713 patients with craniosynostosis hospitalized between 1976 and 1996, 237 propositi with metopic synostosis were analyzed. The prevalence of metopic synostosis was estimated in the order of 1 in 15,000 children. Family information was obtained from 184 propositi from 179 families. The male-to-female ratio was 3.3:1. ...
Bekaert C - - 1998
We report a case of acne neonatorum developed in a boy since birth. His mother and his aunt had different signs of hyperandrogenism including acne and hirsutism. This case illustrates the correlation between acne neonatorum and familial hyperandrogenism. It shows the importance of the family history and the eventual clinical ...
Defazio G - - 1998
So-called apraxia of eyelid opening (scAEO) has been described chiefly in the context of extrapyramidal disorders. We described 10 new patients with scAEO developing in the absence of any other CNS sign and reviewed the 11 cases with isolated scAEO reported in the literature. Combining our patients and those from ...
Shimohata T - - 1998
We report siblings, a 21-year-old woman (proband) and her 26-year-old brother, with dentatorubral-pallidoluysian atrophy (DRPLA). There was no family history of DRPLA and no clinical abnormalities in their parents, who were both above the age of 50. Analysis of the DRPLA gene of leukocytes showed CAG repeat sizes to be ...
Challands J F - - 1998
Epidural anaesthesia in Familial Dysautonomia (FD) or the Riley Day syndrome has not previously been reported. Three children with FD presenting for redo Nissen fundoplication were managed with epidural anaesthesia. Cases 1 and 2 had had their original Nissen fundoplication without epidural anaesthesia. In Case 3, FD had not yet ...
Barth P G - - 1998
X-Linked myotubular myopathy is a well delineated congenital myopathy, with a high neonatal and early childhood mortality. Only a single gene, mapping to Xq28 has been implicated and has recently been characterized. Phenotypic variability, both inter- and intrafamilial, has been recorded. Its severest expression is a uniform disease with polyhydramnios ...
Heymann W R - - 1998
Hereditary papulotranslucent acrokeratoderma (HPA) is a rare autosomal dominant genodermatosis, characterized by persistent, asymptomatic, yellow-white translucent papules and plaques of the hands and feet. A case of HPA is presented and the literature of this variant of punctate keratoderma is reviewed.
Stalker H J - - 1997
We report on a 5-generation family with multiple musculoskeletal anomalies, including: Robin-type cleft palate, rib "dysplasia," scapular hypoplasia, and pectus excavatum. Robin-type clefts are known to be associated with various skeletal malformations; however, most of these include limb anomalies which are not present in this family. To our knowledge, there ...
Christ M J - - 1997
Myelokathexis is a rare from of neutropenia that is probably congenital, characterized by severe noncyclic neutropenia, recurrent infections, granulocytic hyperplasia of the bone marrow, and degenerative changes in mature neutrophils. The cause remains uncertain. A case of myelokathexis was reported in a father and two daughters, and based on this, ...
Kashiwase H - - 1997
In order to clarify the characteristics of folie à deux in Japan, we examined a total of 97 cases of folie à deux in the Japanese literature covering a period of 90 years, and compared them with the cases reported in Western countries. About 75% of the Japanese cases occur ...
Ding J - - 1997
We report a 9-year-old boy with repeated fractures of the tibia from age 6 months and microscopic hematuria from age 2 years. His maternal family has a history of nephritis and his paternal family has neurofibromatosis type-I (NF-I). The boy's renal biopsy revealed an irregular attenuation and splitting of the ...
Vaiphei K - - 1997
BACKGROUND: A juvenile polyp is a commonly seen condition in the pediatric age group as an etiological factor for rectal bleeding. The histological appearance was considered to be nonneoplastic and was distinguished from other neoplastic polyps. But this concept has been changing over the years as higher incidence of colonic ...
Takeuchi K - - 1997
Three adult Japanese cases of Gitelman's syndrome were characterized by secondary aldosteronism, hypokalemic alkalosis, hypomagnesemia, and hypocalciuria. Two were revealed to be familial cases. A mutation in the thiazide-sensitive Na-Cl cotransporter gene, which had already been confirmed in one family (Takeuchi et al. J Clin Endocrinol Metab 81: 4496,1996), was ...
Nakamura T - - 1997
In 1987 Young and Simpson reported a child with hypothyroidism, a congenital heart disease, severe mental retardation and striking facial dysmorphism, including microcephaly, blepharophimosis, bulbous nose, thin lip, low-set ears and micrognathia. This study presents an 8-month-old boy with virtually identical features to those in Young and Simpson's original case. ...
Faubert P F - - 1997
Idiopathic focal segmental glomerulosclerosis (FSGS) is a common cause of glomerular disease. Although previous case reports suggesting a familial form of the disease exist in the literature, its significance has not been emphasized. We report on our experience with nine cases in four families, as well as a review of ...
Elçioglu N - - 1997
We describe an additional case of Cenani-Lenz syndactylism in a 4 1/2-year-old boy from a consanguineous Turkish family. The digital anomalies consisted partly of synostosis and partly of malformations of the phalanges. Although there was no radio-ulnar synostosis or abnormality of the bones of the feet, the findings are comparable ...
James K B - - 1997
This article reviews the theories regarding the causes of lymphocytic myocarditis, including viral and immunologic (cellular versus humoral) causes. Also covered is the relationship of dilated cardiomyopathy to myocarditis, the familial predilection for dilated cardiomyopathy in some cases, shortcomings of the various modalities for diagnosing lymphocytic myocarditis, and the occurrence ...
Agnifili A - - 1997
A case of juvenile polyposis associated with hereditary spherocytosis is presented. All the anomalies associated with juvenile polyposis coli reported in the literature are reviewed. The clinical consequences of such a report are discussed along with the different forms of therapy for treating juvenile polyposis coli. To our knowledge, this ...
Kakiya S - - 1997
We report two cases of acromegaly due to pituitary adenoma without any other endocrinopathy in a family. The patients had high plasma GH and were improved by transsphenoidal adenomectomy. Acromegaly is usually a clinical syndrome of sporadic nonfamilial occurrence. The familial occurrence of acromegaly not associated with multiple endocrine neoplasia ...
Wong S S - - 1997
A 73-year-old woman presented with numerous cutaneous neurofibromas on the trunk in a bilateral dermatomal distribution (T2-T12). She also had multiple lentigines scattered on the left side of the trunk, affecting the T2-T12 dermatomes. The diagnosis of bilateral segmental neurofibromatosis (NF) was made on the basis of the clinical features ...
Gripp K W - - 1997
We describe a male patient with wide anterior fontanel and metopic suture, hypertelorism, down slanting palpebral fissures, bilateral iris coloboma, omphalocele, and bilateral absence of the diaphragm with herniation of abdominal organs causing pulmonary hypoplasia and death. Autopsy also showed intestinal malrotation. All findings in this case are consistent with ...
Gibbs D L - - 1997
Diaphragmatic agenesis is a severe form of congenital diaphragmatic hernia for which an autosomal recessive form of inheritance has been proposed. The authors report six families with 13 pregnancies with diaphragmatic agenesis in which inheritance followed an autosomal recessive pattern, including the first reported case of bilateral diaphragmatic agenesis in ...
Jatzko G - - 1997
Familial visceral myopathy in two siblings, involving the intestine with concurrent chylous ascites and chylous pleural effusion, is reported. In this connection a review of the recent gastroenterologic literature was performed. In two siblings, admitted between 1992 and 1995 with increasing ascites, loss of weight, and attacks of subileus, the ...
Nachmanoff D B - - 1997
We report the case of a man with late-onset hereditary ataxia and sensory loss. Three of his sisters were affected by a similar disorder; to date no other members of his family have developed symptoms. The clinical features of this family are similar to a rare form of autosomal dominant ...
Aste N - - 1997
BACKGROUND: Pityriasis rotunda (PR) is an uncommon dermatosis characterized by multiple, round or oval, sharply demarcated scaling patches that are dyschromic and asymptomatic. It has been described in Japanese and in blacks, usually in association with certain infective or malignant systemic diseases. OBJECTIVE: The aim of this study is to ...
Ogle R F - - 1997
Deficiency of complex I (reduced nicotinamide adenine dinucleotide dehydrogenase-ubiquinone oxidoreductase) of the mitochondrial respiratory chain may be seen as a pure myopathy or as a neuromuscular disorder at presentation. Efficacy of long- term therapy for these disorders is yet to be established. We report the case of a female patient ...
Elleder M - - 1997
A series of 57 patients (from 51 families) with neuronal ceroid lipofuscinosis (NCL) has been diagnosed during the last 25 years. Using clinical and electrophysiological criteria together with results of ultrastructural, histochemical, immunohistochemical and neuropathological analyses it has been possible to classify the following NCL types. Two cases were of ...
Starr J M - - 1997
Clusters of high incidence areas of presenile Alzheimer's disease were found in Scotland between 1974 and 1988. We present a novel index of case kinship based on the number of observed common ancestors of cases compared with the number expected in order to evaluate whether these cluster are attributable to ...
Nakamura K - - 1997
There is a hypothesis that hyperplastic callus (HC) in osteogenesis imperfecta (OI) is not merely a rare complication but could actually be inherited, although this idea has not yet been investigated. We described two cases, a mother and son, with mild OI, normal scleral colour and no dentinogenesis imperfecta, who ...
Nemesure B - - 1996
This study investigated the self-reported family history of open-angle glaucoma (OAG) among 4,314 black participants in the Barbados Eye Study (BES), which was based on a random sample of Barbados-born citizens between 40 and 84 years of age. Data collection included Humphrey perimetry, fundus photography, various ophthalmic and other measurements ...
Castro M - - 1996
The present study is an annotated list of the marine crustaceans (Decapoda and Stomatopoda) from Golfo Dulce, Costa Rica, collected during the RV Victor Hensen Cruise 1993-1994, at depths ranging from 20 to 260 m. Stomatopoda was represented by one family and two species. Decapoda was represented by 12 families ...
Waldstreicher J - - 1996
Despite recent advances in the understanding of the pathophysiology of Kallmann's syndrome (KS), the patterns of inheritance in the majority of cases of GnRH deficiency in human subjects remain unclear. To define further the genetic and phenotypic variability of this syndrome, detailed family histories were reviewed in 106 cases of ...
Irvine A D - - 1996
We report a family in which a phenotype of acromegaloid facial appearance (AFA) and generalised hypertrichosis terminalis segregates through three generations. Congenital hypertrichosis terminalis and AFA have been previously reported as independent autosomal dominant traits. This is the first report to delineate an autosomal dominant transmission of the combined phenotype.
Silburn P - - 1996
A 60-year-old woman with a typical history of fatal familial insomnia (FFI) had FFI proven by histologic examination and molecular testing. Her son, who died at the age of 20 in 1978, had a rapidly progressive dementing illness without reported insomnia. He carried the characteristic mutation for FFI and is ...
Soland V L - - 1996
Focal task-specific tremors besides primary writing tremor have rarely been reported in the literature. We describe nine cases of focal tremors induced by different specific tasks, involving a repetitive and frequently performed movement. Only one of these patients had a family history of any similar disorders. There was no overt ...
Kerbl R - - 1996
Congenital central hypoventilation syndrome (CCHS, Ondine's curse syndrome) is a rare respiratory disorder; less than 100 cases have been reported. Familiality of the disease has been discussed, but only few familial cases have been reported so far. In this report we describe the occurrence of CCHS in two male siblings. ...
Meola G - - 1996
The aim of this study is to describe the essential characteristics of a family affected by the newly-described proximal myotonic myopathy (PROMM) The clinical, laboratory and genetic findings are described and compared with those reported in the literature, and the clinical spectrum of the manifestations that are similar to but ...
Sahl W J - - 1996
BACKGROUND: Pseudopelade is a rare idiopathic progressive alopecia that has no initial inflammatory phase. Even so, pseudopelade has been classified as scarring alopecia with postinflammatory alopecias. Atrophy rather than true scarring is the cardinal feature of pseudopelade. MATERIALS AND METHODS: A review of reported cases of pseudopelade, especially those with ...
van der Kooi A J - - 1996
A cross-sectional study was performed in the Netherlands to define the clinical characteristics of the various subtypes within the broad and heterogeneous entity of limb girdle muscular dystrophy (LGMD). An attempt was made to include all known cases of LGMD in the Netherlands. Out of the reported 200 patients, 105 ...
Williamson P - - 1996
OBJECTIVE: To examine the extent to which clinicians recognize the genetic aspects of medullary thyroid carcinoma (MTC) and undertake appropriate investigation and management of patients and their at-risk relatives. DESIGN: retrospective review of case notes. SUBJECTS: all individuals aged 70 or under with a 'raised' calcitonin level during 1990-91. Information ...
Mahjneh I - - 1996
The limb-girdle muscular dystrophies (LGMD) are autosomally inherited neuromuscular diseases. Recently six different loci for LGMD have been reported: 5q (LGMD1A), 15q (LGMD2A), 2p (LGMD2B), 13q (LGMD2C), 17q (LGMD2D) and 4p-14-q21.2 (LGMD2E) respectively. We have studied 79 patients affected by LGMD during the period 1976 to 1995. All patients were ...
Chitty L S - - 1996
We report two families with the Witkop "tooth and nail syndrome". This term is a misnomer, as the hair was mildly involved in the original case reports and in the families reported here.
Lendvai D - - 1996
The authors report two cases of a particular type of migraine with aura, known as familial hemiplegic migraine (FHM). According to the International Headache Society (IHS) diagnostic criteria, the FHM can be diagnosed with the exception of organic causes, in a patient with migraine with aura including emiparesis of anything ...
Morita T - - 1996
We reviewed the circumstances surrounding the use of sedation for symptom control in a Japanese hospice. Of 143 inpatients, 69 (48.3%) received sedation and died an average 3.9 days after sedation was begun. Symptoms requiring sedation included dyspnea, pain, general malaise, agitation, and nausea. In 83% of cases, those symptoms ...
Suyugül Z - - 1996
We report on 2 Turkish families with children who had bilateral anophthalmia, upper and lower limb abnormalities, mental retardation and consanguineous parents. We have evaluated the 2 cases in the first family and the only case in the second as anophthalmia-Waardenburg syndrome. This is an extremely rare autosomal recessive syndrome.
Schapira M - - 1996
We report 2 cases of severe nontyphoidal salmonellosis (Salmonella enteritidis), occurring 4 and 5 weeks after starting a treatment with Omeprazole (20 mg a day). No other member of the families was sick, and none of the 2 patients took any meals outside home during the two weeks preceding the ...
Newbury-Ecob R A - - 1996
A clinical and genetic study of the Holt-Oram syndrome (HOS) has been carried out in the United Kingdom involving 55 cases designated Holt-Oram syndrome, together with their parents and sibs. Data from the clinical assessment of both familial and isolated cases were used to define the HOS phenotype and to ...
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