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Biomedical subjects

H D Rott

Publications and source records attributed to H D Rott.

At least 55 records · Page 3Linked to original sources
PubMed1987

[Analogy of Blaschko lines in the eye].

In females random X-inactivation and subsequent embryonic development cause a specific distribution of cell clones. This aspect can be seen in carrier women for different X-linked diseases. In such dermopathies the carrier women show striated skin affections following a system of lines, which has been described by A. Blaschko in 1901. An analogous pattern can be seen in the retina of carrier women for the X-linked ocular albinism. The fundus shows a partial involvement with a striated pattern diverging from the papilla. In X-linked cataracts carrier women have lens opacities with an irregularly radiated pattern as well as segmental cataracts. This finding is demonstrated in the isolated X-linked cataract, the X-linked chondrodysplasia punctata, and in Lowe's syndrome.

Albinism↗
PubMed1985

[The Lyon effect of the lens: findings in the carriers of X chromosome-linked cataract and in Lowe syndrome].

In carrier women for X-linked diseases the random X-inactivation and the subsequent embryonic process of development and differentiation induce characteristic patterns of tissue mosaicism. In the lens, the random mosaic pattern of equatorial epithelial cells and their proliferation oriented toward the posterior pole induce a radial or segmental distribution pattern of clonal cell populations. This can be shown in carrier women for X-linked cataracts. Findings in a carrier woman for X-linked cataract and for Lowe's syndrome respectively are reported.

Adult↗
PubMed1985

Observation concerning the age of onset and the nature of optic atrophy in Wolfram's syndrome (DIDMOADS).

A 31/2-year-old boy, who was diagnosed to have diabetes 6 months earlier, was referred for routine fundus check-up. No family history of diabetes was known. Ophthalmologic findings were: slight hyperopic astigmatism, visual acuity right = left = 1/5, examination of the visual field not yet possible, optic atrophy, no diabetic retinopathy, very narrow vessels. ERG: distinctly reduced potentials. Audiogram: loss of high tones in the inner ear. Pediatric examination ruled out other endocrine disorders, no symptoms of diabetes insipidus were found. These results perhaps reveal the nature of the optic atrophy: a retinal one. The authors found no other ERGs in the literature at such an early stage.

Age Factors↗
PubMed1985

Imaging technics in muscular dystrophies.

Modern medical imaging technics as ultrasound and computerized tomographies with X-rays, nuclear magnetic resonance or ultrasound permit the representation of soft tissues including muscles. For muscular dystrophies, these diagnostic methods may allow a more detailed staging and evaluation of single muscle groups. The value for Duchenne carrier detection has meanwhile been proven.

Adult↗
PubMed1984

Duchenne's muscular dystrophy: carrier detection by imaging technics.

The partial muscular dystrophic process in carrier women for X-linked muscular dystrophy, which results in an increased fatty and connective tissue infiltration of thigh and calf muscles, can be shown by ultrasound and X-ray CT. These technics are of special value in older women, where CK levels have normalized. Age dependencies and the consequences for genetic counseling will be discussed.

Adult↗
PubMed1983

Genetics of Kartagener's syndrome.

"Primary ciliary dyskinesia" is a group of various genetic diseases. A common property is various axonemal defects leading to ciliary dysfunction, which causes the typical clinical picture. Situs inversus occurs as a facultative symptom in half the cases. This combination is known as "Kartagener's syndrome", thus being a characteristic combination of symptoms, but no nosologic entity. Autosomal recessive inheritance has been proven in primary ciliary dyskinesia, but dominant new mutations can not as yet be excluded for sporadic cases.

Bronchiectasis↗
PubMed1982

[Duchenne muscular dystrophy: detection of carriers using ultrasound].

For detection of carriers of Duchenne muscular dystrophy the calf musculature was investigated for increased fat and connective tissue content using ultrasound. The investigation was done blind in 24 females without prior information on family history and creatine kinase (CK-)values. In 5 out of 6 carriers and in 5 out of 7 controls the correct diagnosis was made. One carrier was assumed to be unaffected and in two controls findings were inconclusive. Out of 11 potential carriers with normal CK-values 4 were considered to be carriers. One borderline case could not be assigned clearly. For the present problem ultrasound diagnostics have been proven to be useful particularly in older females in whom enzyme assessment will not produce pathological data.

Adipose Tissue↗
PubMed1982

[A rare form of optical, choroidal and retinal dysplasia combined with an occipital encephalocele].

Report on the case of a female infant born with an occipital encephalocele and colobomas of the optic disc, chorioid, and retina. These clinical signs together with respiratory disturbances suggest a Joubert syndrome and a Pfeiffer syndrome. The differential diagnosis of these syndromes is discussed. An analysis of the clinical data indicates a genetic risk of 25% for further siblings.

Choroid↗