Biomedical subjects

M Kuklík

Publications and source records attributed to M Kuklík.

At least 19 recordsLinked to original sources

PubMed2000

Poland-Möbius syndrome and disruption spectrum affecting the face and extremities: a review paper and presentation of five cases.

The author summarizes hitherto assembled experience with the clinical and genetic characteristics of Poland's and Möbius syndrome. Five selected case-records with this disease and the sequence of the Poland-Möbius syndrome are presented. Another case-record is devoted to an allied syndrome, hypoglossia-hypodactyly, found in a spontaneously aborted fetus. For establishment of a more accurate symptomatology, an irreplaceable place is held by anthropometric examination; for objectifying the asymmetry of the chest the so-called cyrtogram, the chest circumference recorded by means of a wire, is valuable. From the aspect of genetic counseling, preconception care is always provided to mothers from families with reproductive intentions, as well as ultrasonographic examination of the fetus in areas of assumed acral symptomatology (signaling phenotype). In two families ultrasonography was used for prenatal diagnosis. Invasive prenatal diagnosis by amniocentesis was employed in a family with Möbius syndrome. In these families dermatoglyphs have certain common characteristics, such a tendency towards simple patterns. In the wider family of one of our patients we detected in a cousin Parkes-Weber-Klippel-Trenaunay's syndrome, which may indicate common vascular predisposing factors.

Adult↗

PubMed2000

[An unusual case of primary hyperparathyroidism in a woman with Gorlin-Goltz syndrome].

Nevoid basal cell carcinoma syndrome (NBCCS) has been known to coincide with different forms of other neoplasias; however, parathyroid adenoma in this syndrome has not previously been described. The authors report a case of such association in a 50-year old white woman. The adenoma was verified before operation by biochemical, isotopic and cytologic methods and later, after the excision of adenoma, histologically.

Adenoma↗

PubMed1999

Precision grip with congenital hypoplasty or hypofunction of the thumb.

We tested the grip in four patients with congenital defects of the hand and either a hypoplastic thumb or a thumb with impaired inervation. Small objects were taken by a scissors grip between the fingers. In a hand with radial duction in the manus vara congenita, during strengthening of the wrist, the grip from the ulnar side between the fourth and fifth fingers was changed to the radial side between the second and third fingers. Large objects were gripped by all the three-phalanx fingers into the palm in a horizontal position. In case 4 with hypoplasia of the thumb grade IIIC by the classification of Blauth and Buck-Gramcko, we describe a transposition of the index finger to the site of the thumb and the hypoplastic thumb to the site of the index finger. It is obvious that the precision grip is affected by the thumb length and strengthening of the ulnar side of the wrist. We assume that the scissors grip is the earliest precision grip in the evolution of the primate hand.

Child↗

PubMed1991

[Dermatoglyphic characteristics of the Czech population].

Statistical processing of results obtained from dermatoglyphic digital patterns of the Czech population--110 women and 130 men of a reference group--revealed the tendency of more complex pattern formation in men and a tendency of simple pattern formation in women. As regards the frequency of vortices, the differences are significant at the 1% level (in men they form 24.15% patterns, while in women 14.27%). There is also a significant difference in the ratio of arches (1% level of significance)--frequency in men, 5.85%, is lower than in women--11.69%. In the general evaluation the ulnar loops differ only at the 5% level of significance (in men 58.85% and in women 63.18%). The frequency of radial loops and double loops differ insignificantly. The results indicate a greater trend of asymmetrical patterns in men than in women. In investigations of the sexual dimorphism the attained numbers of statistical differences differ by fingers--the most widely different values are recorded in the index fingers and the least different ones in the middle fingers. The number of statistical differences by sex differs also by patterns: most in vortices and arches and least in double loops.

Czechoslovakia↗

PubMed1991

Dermatoglyphics in juvenile hypertension.

Dermatoglyphics of 172 children and young adults (116 males, 56 females) with hypertension, 13-27 years old, were compared with those of 130 healthy male and 110 female controls. Several differences were observed between the two groups. Hypertensive patients had a somewhat lower frequency of fingertip ulnar loops, higher frequency whorls and a higher total finger ridge count. They also had a somewhat higher mean atd angle, significantly more frequent distal position of the axial triradius (mostly in t' position) and more missing axial triradii compared to controls. The differences between a-b ridge counts, the interdigital, thenar and hypothenar patterns were generally small and sometimes limited to one sex or one hand only. The observed differences seem to indicate a genetic influence in the etiology of essential hypertension.

Adolescent↗

PubMed1990

[Ectodermal dysplasia with alopecia, a higher rate of chromosome breaks and normal dentition].

The authors present in two case-histories of unrelated female patients the characteristics of the syndrome of ectodermal dysplasia with alopecia and absence of hair and concurrent immunodeficiency and a higher number of chromosomal breaks. In the probands some other important symptoms of ectodermal dysplasias were lacking, such as disorders of dentition and absence of sweat glands. In this affection, hitherto not mentioned in our literature in conjunction with an increased number of chromosomal breaks, the author draws attention to genetic and prenatal genetic associations. He assumes an autosomal recessive heredity of this nosological unit.

Adult↗

PubMed1990

[Clinical and genetic characteristics of the Klippel-Trenaunay syndrome].

The authors examined comprehensively a group of 23 patients with angiodysplastic changes of the type of Klippel-Trenaunay's syndrome. It is a longitudinal investigation, incl. a paediatric and genetic examination. The authors recorded the main phenotypical characteristics of the disease with emphasis on biomechanical aspects. The genealogical examination revealed microsymptoms in the family in a total of 52.2%, such as varicose veins and crural ulcers, haemangiomas and congenital heart disease. The genetic examination proves the assumed polygenic type of heredity with a low risk for grade 1 relatives, i.e. children and siblings of the affected subjects, who are isolated cases in the pedigree. In rare instances the authors recorded complete transmission in two generations. The clinical picture of the disease involves above all hemihypertrophy or asymmetry ensuing from trophic changes, mainly of the extremities and adequate part of the trunk. These changes were recorded in 100% of the investigated patients. Usually the lower half of the body is affected--52.2%, a lateral predilection was not observed. The authors mention also other facultative characteristics of the syndrome.

Humans↗

PubMed1990

[The ADAM syndrome].

The author demonstrates genetic counseling and prenatal diagnosis in a family where a severely malformed infant was born with the diagnosis of the syndrome of multiple animal malformations and mutilations. These disorders are known under the acronym ADAM (amnial deformation, adhesion, mutilation). Based on the case-history the author explains the possibility to apply prenatal diagnostic methods and makes comparisons with similar cases in the literature.

Abnormalities, Multiple↗

PubMed1990

[Deviations in dermatoglyphic signs in juvenile hypertensives].

In 172 children and young adults aged 13-27 years dermatoglyphic deviations were investigated, as compared with the normal Prague population. The authors tested 116 hypertonic males, as compared with 130 male controls; 110 healthy women were compared with 56 suffering from hypertension. Using classical modern statistical tests, some significant deviations were found in the pathological groups. The authors detected a less frequent prevalence of ulnar loops and more frequent whirls on the fingers of hypertensive patients. The numbers of papillary lines on the fingers were higher, as compared with normal values. Higher "atd" values, although not significantly, were found a more frequent incidence of distal positions of the axial triradius. Deviations of some other signs on the palms such as the number of lines between triradii a and b, patterns in the interdigital spaces, on the hypothenar and thenar were less marked and there were moreover sex-conditioned differences. The observed changes suggest a marked participation of genetic factors in the aetiology of essential hypertension and they can be explained by laws of developmental mechanics of the papillary lines during embryogenesis. Dermatoglyphs, a non-invasive method, could serve as a screening indicator for the follow up of individuals in threatened families.

Adolescent↗

PubMed1988