RESUMEN
Dermatoglyphs are polygenetically determined epidermal ridge configurations on the fingers, palms and soles. An analysis of the digito-palmar dermatoglyphics obtained from 69 pairs of same-sex twins (32 monozygotic and 37 dizygotic) was performed in the population of Kosovo. Qualitative traits on the fingers (whorls, arches, radial and ulnar loops) and palms (pattern frequencies in the thenar/I, II, III and IV interdigital areas and hypothenar, the frequencies of positions of axial triradius) of both hands were analysed. The homolateral and heterolateral concordance of dermatoglyphic patterns between twin pairs were calculated for the monozygotic and dizygotic twins separately. The estimates of heritability for qualitative dermatoglyphic traits and the impacts of twin's shared (c(2)) and non-shared (individual) environments (e(2)) were presented. According to our results, the heritability patterns sharply distinguish highly heritable dermatoglyphic traits (patterns on the thenar and I interdigital area, II interdigital area and all the digits) and the traits with weak genetic component (patterns on the III and IV interdigital area, the hypothenar and the axial triradius position). In addition, the concordance and the heritability estimates in twins correspond to the embryonic growth of fingers (from the first to the fifth finger) and palm patterns (the II interdigital area). Based on findings presented here, we expect that the noxious environmental factors (possibly causing diseases later in life) would leave traces on the dermatoglyphs, which could be recognized as the increased dissimilarity of the twins (and other relatives) in the III and IV interdigital area, hypothenar, and in axial triradius position.
Asunto(s)
Dermatoglifia , Dedos/anatomía & histología , Mano/anatomía & histología , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Adolescente , Albania/etnología , Niño , Ambiente , Femenino , Variación Genética , Humanos , Masculino , Fenotipo , Adulto Joven , YugoslaviaRESUMEN
HISTORY AND ADMISSION FINDINGS: A 35-year-old woman (gravida 4, para 3) was known to have mixed connective tissue disease (MCTD-Sharp's syndrome) for five years, treated with immunosuppressives. She was in the 20 + 4 week of an unwanted pregnancy. DIAGNOSIS: On admission she had marked eclampsia with severe hypertension (180/130 mmHg), laboratory tests revealing hemolysis, elevated liver enzymes and thrombocytopenia, indicating an HELPP syndrome (severe eclampsia with hemolysis, elevated liver function and low platelets). TREATMENT AND COURSE: The symptoms worsened over a few days, the patient initially having refused treatment. The fetus died in utero. After drug-induction of labor the fetus was ejected and with further supportive treatment the patient's condition rapidly improved. CONCLUSION: This patient developed HELPP syndrome in association with MCTD. There is no proof that the collagen disease had a causal or aggravating effect on the development of HELPP syndrome.
Asunto(s)
Síndrome HELLP/diagnóstico , Enfermedad Mixta del Tejido Conjuntivo/diagnóstico , Adulto , Femenino , Muerte Fetal/etiología , Humanos , Inmunosupresores/uso terapéutico , Enfermedad Mixta del Tejido Conjuntivo/complicaciones , Enfermedad Mixta del Tejido Conjuntivo/tratamiento farmacológico , Embarazo , Complicaciones del Embarazo/diagnóstico , Embarazo no DeseadoRESUMEN
The 15 AmpF lSTR Identifiler loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, THO1, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818 and FGA) were analyzed in a sample of 136 unrelated Albanian adults from Kosovo. The agreement with HWE was confirmed for all loci with the exception of TPOX (based on the exact test only). The combined power of discrimination (PD) and the combined power of exclusion (PE) for the 15 studied loci were 0.99999999999999997 and 0.9999995, respectively. According to the presented data, FGA proved to be the most informative marker. An interpopulation comparison between Kosovo Albanians and Croatians (as an example of a population from the Balkans) revealed significant differences in four out of nine loci.