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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 ...
Mimouni Daniel - - 2002
Pincer nail is a rare dystrophy characterized by transverse overcurvature that increases distally along the longitudinal axis of the nail. Etiology, pathogenesis, and inheritance of this dystrophy are not clear. We report on 3 remotely consanguineous siblings (2 girls, 1 boy) with pincer nail of the toes. Case distribution in ...
Russell K L - - 2001
The Cornelia de Lange syndrome (CdLS) is an autosomal dominant multisystem disorder characterized by somatic and cognitive retardation, characteristic facial features, limb abnormalities, hearing loss, and other organ system involvement. The vast majority of cases (99%) are sporadic, with rare familial occurrences having been reported. Most individuals with CdLS do ...
Scott B. Fleenor
The long-lipped beetle family Telegeusidae is reported for the first time from Texas and is represented in that state by the new species Telegeusis texensis Fleenor and Taber. The biology and literature of this rare genus are reviewed.
Johnston S A - - 2001
Sagittal synostosis is the most common form of craniosynostosis (i.e., premature fusion of cranial sutures). Sagittal synostosis, which is the premature fusion of the sagittal suture, occurs in 56% to 58% of all reported cases of craniosynostosis. This article describes calvarial vault remodeling, the procedure of choice at Children's Hospital ...
Hedrick H L - - 2001
Ethical conflict in the clinical setting generally arises in situation of uncertainty, ambiguity, and complexity. This report discusses 4 cases of conflict between clinicians, between clinicians and patient, and between clinicians and family. Presented in enough detail for the reader to appreciate the extent and nature of the conflict, these ...
Kurt E - - 2001
BACKGROUND: Numerous syndromes with myopia and hearing loss have been described up to now. We present a family with pathologic myopia, corneal dystrophy, and deafness distinct from these syndromes. CASES: Ten patients in the same Turkish family were evaluated by ophthalmologic, audiologic, physical, radiologic, genetic, serologic, and biochemical examinations. OBSERVATIONS: ...
Sugai K - - 2001
Nationwide survey on familial cases of West syndrome (WS) in first- and second-degree relatives was conducted by mailing a questionnaire to 64 major university hospitals, children's hospitals, and epilepsy centers in Japan, and by review of the Japanese cases in the literatures. Thirty-four familial cases, 20 males and 14 females, ...
Piccini P - - 2001
BACKGROUND: Progressive supranuclear palsy (PSP) is generally considered to be a sporadic disease; however, occasional cases of familial PSP have been described. The rarity of reports of familial PSP may be attributed in part to an inability to detect subclinical disease in affected relatives who subsequently die before symptoms clinically ...
Jardim L B - - 2001
BACKGROUND: The autosomal dominant spinocerebellar ataxias (SCAs) are a clinical and genetically heterogeneous group of debilitating, neurodegenerative diseases, related to fourteen different loci - SCAs 1, 2, 4, 5, 6, 7, 8, 10, 11,12,13 and 14, Machado-Joseph disease (MJD/SCA 3), and DRPLA. OBJECTIVES: (1) To verify the frequency of SCA1, ...
Balci S - - 2001
Familial microtia with external ear canal atresia and conductive deafness is rarely reported. Autosomal dominant and recessive inheritance have been suggested depending on various family reports. Cases with other malformations in addition to microtia have been described, although the microtia generally is an isolated finding. Here we report a family ...
Islam S I - - 2001
PURPOSE: To report a family with aggressive, early-onset pterygium. METHODS: We examined all living relatives (with one exception) of a Saudi Arabian family and found three members with pterygium (onset occurred when the patients were at early 20s, 6, and 4 years of age). RESULTS: Multiple attempts at surgical removal, ...
Sukontason K - - 2001
The forensic entomology case described herein is the first such case documented in Thailand. A mummified corpse of a 32-yr-old man was discovered in a forested habitat, with the larvae of six species of flies (Diptera) found in association with the corpse at the time of its discovery, i.e., those ...
Fleetwood I G - - 2001
The authors report the case of a 45-year-old woman with medically intractable trigeminal neuralgia (TN) in whom a good clinical response to partial sectioning of the trigeminal nerve was attained. No evidence of vascular compression was found intraoperatively. Several other members of her family, involving three generations, also suffered from ...
Colovic M D - - 2001
Familial hairy cell leukemia (HCL) occurs rarely. So far, 26 familial instances of HCL (in 12 families) have been reported in the literature. The consistent human leukocyte antigen (HLA) linkage could not be established in most cases of familial HCL. History of exposure to organic chemicals or employment in woodworking ...
Mehrabi D - - 2001
Waxy keratoses of childhood is a rare genodermatosis previously noted in both familial and isolated presentations. Three previous cases have been described in which the lesions appeared over the trunk and extremities. We report a case in which the waxy keratoses of childhood lesions appeared in a segmental distribution along ...
Guido Pereira
A revision of clam shrimps of the family Limnadiidae from Venezuela resulted in eight species, of which seven belong to the genus Eulimnadia and one to Metalimnadia. Eulimnadia texana, previously reported from North America and Brazil, now has a less discontinuous distribution as does E. cylindrova, previously reported from North ...
Dimitrakov J D - - 2001
A case of familial clustering of interstitial cystitis (IC) and chronic pelvic pain syndrome (CPPS), a symptom complex similar to IC that occurs in men, is reported. The proband was a 28-year-old woman with a 6-month history of severe frequency, urgency, and genital pain. After cystoscopy with hydrodistention and biopsy, ...
Hosalkar H - - 2001
Familial transmission of congenital muscular torticollis (CMT) has been reported in the literature, and postaxial polydactyly has been frequently reported in familial cases, but, to our knowledge, familial CMT with postaxial polydactyly has not been described. In this article, we report a rare case of CMT with postaxial polydactyly in ...
Aarskog N K - - 2001
Around 70% of Charcot-Marie-Tooth 1 (CMT1) cases are caused by a dominantly inherited 1.5-Mb duplication at 17p11.2-12 (CMT1A). Using photostimulated luminescence (PSL) imaging of MspI Southern blots, hybridization signals of the probe pVAW409R3a in relation to cohybridized probe SF85a, were densitometrically quantified and an RFLP allele-band ratio determined. A total ...
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 ...
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