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Biomedical subjects

U Theile

Publications and source records attributed to U Theile.

At least 19 recordsLinked to original sources
PubMed2004

[Noonan's syndrome with an unusual combination of hypertrophic cardiomyopathy, congenital bicuspid aortic valve, coarctation of the aorta and hypoplastic aortic arch].

Noonan's syndrome is characterized by craniofacial anomalies, i. e. ptosis, webbing of the neck and a deep nuchal hairline, as well as skeletal deformities such as short stature, clinodactyly, pectus carinatum and funnel chest and other organ anomalies, mainly cardiac valve disease, less often testicular retention or kidney malformations. Noonan syndrome presents with aspects similar to Ullrich-Turner syndrome, but can be found in both male and female patients. In about one half of the patients with Noonan's syndrome cardiovascular anomalies occur, mostly anomalies of the right heart (mainly valvular pulmonary stenosis). Aortic stenosis and coarctation of the aorta are rarely seen. We report on a patient with four sequential potentially stenosing and stenosed parts of the proximal systemic circulation: hypertrophic cardiomyopathy, bicuspid aortic valve, coarctation of the aorta and a hypoplastic aortic arch as a part of Noonan's syndrome. This patient presents with a unique combination of anomalies, as he also shows a Madelung like deformity of the wrist.

Adult↗
PubMed2000

Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.

We report on two sibs, both males, one born at 37 the other at 24 weeks of gestation, both with a syndrome similar to that seen in three sets of sibs by Gillessen-Kaesbach et al. [1993: Am J Med Genet 45:511-518]. Both propositi had polycystic kidneys and hepatic fibrosis indistinguishable from that seen in autosomal recessive polycystic kidney disease (ARPKD), and skeletal and facial anomalies. Skeletal abnormalities included "butterfly" vertebrae, square shape of pelvis, and brachymelia. The facial anomalies included hypertelorism, epicanthic folds, and anteverted nares. Additional external findings were apparently low-set ears and a short neck. Histopathological examination of the kidneys showed radial orientation and cystic dilatation of the cortical and medullar tubules. The liver showed "congenital hepatic fibrosis." The hepatic findings in the second infant were less severe. Renal abnormalities were limited to focal tubular cystic changes. Linkage analysis with polymorphic markers of the region 6p21.1-p12, flanking the gene locus of ARPKD, showed different haplotypes in the sibs, thus excluding the ARPKD gene locus in this family and indicating genetic heterogeneity.

Abortion, Induced↗
PubMed1999

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.

The clinical features of Angelman syndrome (AS) comprise severe mental retardation, postnatal microcephaly, macrostomia and prognathia, absence of speech, ataxia, and a happy disposition. We report on seven patients who lack most of these features, but presented with obesity, muscular hypotonia and mild mental retardation. Based on the latter findings, the patients were initially suspected of having Prader-Willi syndrome. DNA methylation analysis of SNRPN and D15S63, however, revealed an AS pattern, ie the maternal band was faint or absent. Cytogenetic studies and microsatellite analysis demonstrated apparently normal chromosomes 15 of biparental inheritance. We conclude that these patients have an imprinting defect and a previously unrecognised form of AS. The mild phenotype may be explained by an incomplete imprinting defect or by cellular mosaicism.

Angelman Syndrome↗
PubMed1997

Patchy dermal hypoplasia as a characteristic feature of Proteus syndrome.

BACKGROUND: The diagnostic criteria of Proteus syndrome include various lesions of localized overgrowth such as digital gigantism, hemihyperplasia with unilateral macrocephaly, epidermal nevus, and mesodermal hamartomas such as lipoma, lymphangioma, hemangioma, or fibroma. Hyperplasia of the plantar dermal tissue may result in a characteristic cerebriform appearance. However, hypoplastic lesions involving various tissues such as subcutaneous fat or muscles also may be observed in this syndrome. This paradoxical phenomenon has so far been underestimated, and the presence of circumscribed lesions of dermal hypoplasia has been entirely ignored. OBSERVATIONS: We report 4 cases of Proteus syndrome associated with large patches of dermal hypoplasia, resulting in a more prominent appearance of venous vasculature. CONCLUSIONS: Patchy dermal hypoplasia appears to be a characteristic feature within the spectrum of Proteus syndrome. The anomaly should not be confused with partial lipohypoplasia that may likewise be associated with this multisystem birth defect. From a review of the literature, we conclude that patchy dermal hypoplasia may have occurred in several previous cases. In the future, recognition of this cutaneous anomaly may help to establish the diagnosis in otherwise doubtful cases. To explain the coexistence of lesions of dermal hyperplasia and hypoplasia, we propose the genetic concept of "twin spotting." At the gene locus of Proteus syndrome the embryo would carry 1 allele giving rise to dermal overgrowth, whereas the corresponding allele would be responsible for a diminished proliferation of cutaneous fibroblasts. Somatic recombination may result in 2 different populations of cells homozygous for either allele.

Child↗
PubMed1996

Microdissection and DOP-PCR-based reverse chromosome painting as a fast and reliable strategy in the analysis of various structural chromosome abnormalities.

Reverse chromosome painting has become a powerful tool in clinical genetics for the characterization of cytogenetically unclassifiable aberrations. In this report, the application of a sensitive and rapid procedure for the complete and precise identification of four different de novo structural chromosome abnormalities is presented. These chromosome rearrangements include a marker derived from chromosome 3(cen-q11), an interstitial deletion of chromosome 13 [del(13)(q14q22)], an unbalanced translocation [46,XY, -4, +der(4)t(4;8)(p 15.2;p21.1)] leading to Wolf-Hirschhorn syndrome, and a partial inverted duplication in conjunction with a partial deletion of chromosome 5p [46,XX, -5, +der(5)(:p13-p15.1::p15.1-qter)] which is responsible for the manifestation of the cri-du-chat syndrome. The importance of a fast and reliable evaluation of complex chromosome aberrations in pre- and postnatal diagnosis with regard to comprehensive genetic counselling is emphasized.

Chromosome Aberrations↗
PubMed1995

[Blood relationship].

In every-day medical practice, blood relationship of spouses hardly ever play an important part. Mainly for genetic counselors and pediatricians the question of consanguinity of a child's parents arises when either a rare, often hereditary, disorder is diagnosed for the first time in a family, or potential parents want information on the risk for hereditary diseases. A probability calculus based on the corresponding hereditary factors of the joint ancestors establishes how likely homozygotes for hereditary diseases among the offspring of [blood]-related spouses - often cousins of the first or second degree - is. Furthermore, proof of the parents' consanguinity may explain a child's unexpected hereditary disease [especially autosomal recessive disorders] and, at the same time, it means a higher risk of repetition for the affected child's desired siblings. Incest represents a special form of genetic risk; this question arises either in connection with the adoption of a child, which was conceived by an incestuous couple, or with such a child's own family planning later on. Even the parents' descent from an ethnically, politically, religiously or linguistically isolated background may gave a similar impact on the appearance of hereditary disorders: an accumulation of rare genes has to be taken into account; factors causing disorders have to be expected among these genes, too. In the following, all major aspects of the situations described above will be given in detail.

Consanguinity↗
PubMed1994

[Effect of heredity and environment in immune diseases. Presentation of twin data].

BACKGROUND: The study of twins is an important and informative tool in the investigation of the influence of genetic and environmental factors on the pathogenesis of familial traits. MATERIAL: Seven diseases were analysed by carrying out an intensive study of the literature to search for concordance of monozygotic and dizygotic twins. Apart from single case studies, large unselected series have been reported, some of which show considerable differences in concordance rates. Data from twins were collected for myasthenia gravis, systemic lupus erythematosus, rheumatoid arthritis and type 1 diabetes mellitus, Crohn's disease and, for comparative purposes, also type 2 diabetes mellitus. RESULTS: On the basis of the above-mentioned calculated concordance rates, differences in the influence of genetic factors were established, which may be of importance for the genetic counselling of affected families. These findings based on twins also confirm the multifactorial inheritance model.

Adolescent↗
PubMed1980

[Cardiac involvement in urticaria].

Cardiac involvement in patients with urticaria is rare, but repeatedly assured in publications. Subjective complaints concern chest pain, which extends to the left shoulder and the left arm. Transient electrocardiographic changes can be observed more frequently and they often persist longer than the ches pain. In these patients the most frequent electrocardiographic changes consist in flattening or inversion of the T-wave and depression of the ST-distance. Such a patient is described who additionally showed monotopic extrasystoles.

Adult↗
PubMed1978

[The Rubinstein-Taybi syndrome (author's transl)].

The clinical picture of the Rubinstein-Taybi syndrome is characterized by mental retardation, broad thumb and large toe, beaky nose, antimongloid lid axis and numerous morphological signs. The patients resemble one another so that in many instances the diagnosis can be made on sight. Three cases are described. The exact differentiation from other abnormalities with mental retardation is important, especially in genetic counselling of the affected families.

Abnormalities, Multiple↗