Search

Zerres K, Senderek J, Rudnik-Schöneborn S, Eggermann T, Kunze J, Mononen T, Kääriäinen H, Kirfel J, Moser M, Buettner R, Bergmann C. New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene. Due to the poor prognosis of severe autosomal recessive polycystic kidney disease (ARPKD), there is a strong demand for prenatal diagnosis (PD). Reliable PD testing is possible by molecular genetic analysis only. Although haplotype-based analysis is feasible in most cases, it is associated with a risk of misdiagnosis in families without pathoanatomically proven diagnosis. Linkage analysis is impossible in families where DNA of the index patient is not available. Direct mutation analysis of the recently identified polycystic kidney and hepatic disease 1 gene opens new options in families to whom a reliable PD cannot be offered on the basis of linkage analysis. We for the first time report two cases with PD based on mutation detection, illustrating the new options for PD in ARPKD. [ABSTRACT FROM AUTHOR]

ABSTRACT We report on three pregnancies complicated by Adams–Oliver syndrome in a consanguineous Turkish couple. Two cases were correctly diagnosed prenatally at 22+3 and 13+0 weeks gestation following the first case of Adams–Oliver syndrome in which severe anomalies of the extremities were observed at 26+5 weeks’ gestation. In this first case, the diagnosis of Adams–Oliver syndrome was made following termination of pregnancy at 27+2 weeks’ gestation. In all three cases, autopsy was performed. All fetuses showed anomalies of the extremities, aplasia cutis and symmetric defects of the skull, with bone being replaced by collagenous tissue. Although there have been numerous cases of the postnatal diagnosis of Adams–Oliver syndrome following termination of pregnancy, this is the first description of the prenatal diagnosis of this disorder. [ABSTRACT FROM AUTHOR]

Larsen syndrome shows a broad spectrum of clinical manifestation ranging from a lethal form of the disorder to a mild clinical expression with absence of major diagnostic features. Here we show that even intrafamilial manifestation may vary extremely to the point that Larsen syndrome in a father has been diagnosed only by typical sonographic features in an affected fetus. [ABSTRACT FROM AUTHOR]

A case of diffuse mesangial sclerosis (DMS) associated with a number of undescribed congenital anomalies is reported. The occurrence of additional anomalies, especially ocular anomalies, is a common finding in DMS. However, neither megalocornea, Dandy-Walker malformation, postaxial hexadactyly, rocker-bottom feet, nor atrial septal defect, as observed in our patient, has been reported previously in association with DMS. This case might be considered an atypical manifestation of the Galloway-Mowat syndrome. In contrast to most cases of DMS, the patient revealed intrauterine proteinuria as the placenta was enlarged to 31% of birth weight. This case demonstrates that the large placenta, >25% of birth weight, is not only pathognomonic of the congenital nephrotic syndrome of the Finnish type but can also occur in DMS. [ABSTRACT FROM AUTHOR]

The article presents case reports related to allergic contact dermatitis from idoxuridine (IDU). The efficacy of locally applied idoxuridine depends on its concentration and contact dermatitis due to this is rare. The sensitization potential of IDU is low. In the first case a 66 year old non atopic man was treated for herpes zoster of dermatomes with a IDU solution, the treatment was discontinued after some time but later he observed swelling and pain in the lumbar region, finally he was cured with corticosteroid therapy.

The growing number of individuals over the age of sixty-five with specific dental needs requires increased teaching efforts to adequately prepare predoctoral dental students. The study assessed whether such increases in undergraduate gerodontology teaching in German-speaking countries between 2004 and 2009 occurred. Questionnaires were mailed in 2004 and 2009 to all deans (n=37) and all department heads (n=140) of Austrian, Swiss, and German dental schools. Results show that gerodontology is still mostly included in traditional core subjects but that specific lecture series and practical teaching have increased. These cover a broad variety of subjects including geriatric medicine, gerontopsychiatry, nursing care, pharmacology, and public health. The number of departments with dedicated staff for gerodontology, research activities, and mean number of publications has increased. Barriers to the further integration of the subject include its continued exclusion from final examinations in Austria and Germany. Guidelines of the European College of Gerodontology (2009), which aim to prepare students to provide dental treatment to seniors by teaching theoretical knowledge, practical skills, patient management techniques, and the ethical foundation of gerodontology, need to be implemented. Continued professional education of faculty in all departments, intensified cooperation between universities, and the presence of faculty specializing in gerodontology are suggested.

We report a large inbred kindred from Oman with a distinct type of spondyloepiphyseal dysplasia (SED). We evaluated eight individuals from two consanguineous sibships, one male and seven females between the ages of 2 and 22. The pedigrees strongly suggest autosomal recessive inheritance and both families are likely to be related through distant consanguineous loops. The clinical features include near to normal length at birth, short stature with final height of 110-130 cm, shortening of the upper segment due to severe progressive kyphoscoliosis, severe arthritic changes with joint dislocations, rhizomelic limbs, genu valgum, cubitus valgus, mild brachydactyly, camptodactyly, microdontia, and normal intelligence. Minor radiographic metaphyseal changes were found, but major manifestations were in the spine and the epiphyses. During the first year of life the vertebral bodies are of normal height but the endplates are irregular and intervertebral space is narrow. With age, the vertebral endplates become increasingly irregular, the intervertebral space diminishes further and individual vertebrae start to fuse resulting in a severe short trunk dwarfism with kyphoscoliosis. The epiphysis are small and precocious osteoarthropathy was observed involving small and large joints. The elbow, wrist, and hip joints were affected starting in infancy and showed restricted movement. Osteoarthropathy and spinal involvement resulted in physical handicap in early adulthood. Comparison of these patients with other skeletal dysplasias suggests that they represent a previously undescribed variant of SED., (Copyright 2003 Wiley-Liss, Inc.)

We present three patients with congenital generalized lipodystrophy, sensorineural deafness, low birth weight, short stature, delayed cognitive development, and progressive bone changes characterized by overtubulation and rarefaction of long bones with dense metaphyseal striations occurring in adolescence. Abnormalities of lipid and carbohydrate metabolism, hepatosplenomegaly, acanthosis nigricans, and hirsutism were not found. Comparison of the condition of these patients with known syndromic lipodystrophies suggests that they represent a previously unrecognized genetic disorder. The occurrence in sibs born to consanguineous parents and a third patient from the same tribal unit suggest autosomal recessive inheritance., (Copyright 2003 Wiley-Liss, Inc.)

We report three generation family that includes two patients with severe mental retardation and additional anomalies who have been studied, clinically, cytogenetically, and molecular cytogenetically. A clinical diagnosis could not be made in the propositus, but facial anomalies of Down syndrome (DS) were recognized in the maternal uncle of the propositus. In view of a strong family history of recurrent miscarriage, a familial translocation was highly suggestive. Standard cytogenetic analysis did not reveal any abnormalities. Fluorescence in situ hybridization (FISH) using subtelomeric DNA probes identified a familial cryptic translocation of chromosomes 18 and 21, resulting in partial trisomy 21 and partial monosomy 18q in both patients. FISH analysis of obligate carriers demonstrated a balanced translocation between the terminal parts of 18q and 21q. Including this family, a total of six different familial cases with cryptic or subtle subtelomeric translocations of chromosome 21q has been reported, of which three involved terminal parts of chromosome 18q. The remarkable similarity of the chromosomal breakpoints of our patients and the described families prompted us to refine the breakpoints and to discuss phenotypic differences between these patients. Our results reinforce the role of cryptic subtelomeric rearrangements in patients with mental retardation associated with physical anomalies and stress the importance of FISH technology to supplement routine cytogenetics., (Copyright 2003 Wiley-Liss, Inc.)

Children learned to respond differentially to four tones when correct responses were indicated by re-sounding the tone and flashing a signal lamp (simple knowledge of results). Correct responses were then made to advance a display counter. With this procedure, rate of response increased, but accuracy decreased. Mild punishment-points subtracted from the count-was then arranged for incorrect responses. Accuracy returned to or above its previous level. Response rate tended to remain above its initial level. These results indicate that when supplementary reinforcers are employed, precise contingencies must be arranged to ensure desired behavior.