RESUMO
OBJECTIVES: Assessment of the maternal complications in molecularly confirmed diandric and digynic triploid pregnancies. METHODS: Sonographic features, biochemical results, and clinical presentation were analyzed. Beta-hCG level was controlled after diandric triploidy. RESULTS: The study included nine diandric and twelve digynic triploid pregnancies at the mean gestational age at diagnosis of 14.9 and 18.0 weeks, respectively (p = 0.0391). Mean value of total-hCG was 979 703.6 U/ml in diandric cases and 5 455.4 U/ml in digynic ones (p < 0.000). Maternal complications occurred in 88.9% of diandric triploid pregnancies, including: thecalutein cysts (44.4%), hyperemesis gravidarum (44.4%), symptomatic hyperthyreosis (33.3%), early onset gestational hypertension (22.2%) and vaginal bleeding (11.1%). No case of proteinuria, preeclampsia or HELLP syndrome was observed. Only maternal complication observed in digynic triploidy was vaginal bleeding (50.0%). The mean time of beta-hCG normalization after diandric triploid pregnancies was 84 days (range 11-142 days). No case of gestational trophoblastic neoplasia (GTN) was observed. CONCLUSIONS: Maternal complications (except for vaginal bleeding) are associated with diandric triploidy. The relatively low incidence of hypertensive maternal complications and their less severe course in our cohort may be attributed to the earlier prenatal diagnosis. The frequency of GTN after diandric triploidy may be lower than previously reported.
Assuntos
Triploidia , Adulto , Feminino , Humanos , GravidezRESUMO
Spontaneous miscarriages are the most frequent complications of pregnancy and, in at least half of cases, are caused by chromosomal abnormalities, mainly aneuploidies. We present the preliminary results of the implementation of multiplex ligation-dependent probe amplification (MLPA) in the detection of chromosomal aberrations in the tissue derived from first-trimester miscarriage and evaluate the limitations and requirements of the method. We studied 181 MLPA analyses with subtelomeric and subcentromeric probe kits for all chromosomes (SALSA P070 and SALSA P181) performed on the first-trimester spontaneous miscarriage products in our Department of Genetics between September 2012 and December 2014. Conclusive MLPA results were obtained in 97.2% of samples. Chromosomal aberrations were detected in 40.3% of samples: 61.8% samples of good quality and 12.6% samples of poor quality (p < 0.001). The normal female karyotype was detected in 14.7% of good quality samples and 84.8% of poor quality samples (p < 0.001). MLPA is a useful tool for the detection of chromosomal aberrations in first-trimester miscarriage products. However, the tissue has to be well prepared before testing and the results 46,XX should be interpreted with caution.
Assuntos
Aborto Espontâneo/genética , Aberrações Cromossômicas , Reação em Cadeia da Polimerase Multiplex/métodos , Primeiro Trimestre da Gravidez , Aneuploidia , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Feminino , Humanos , Cariotipagem , Poliploidia , Gravidez , Reprodutibilidade dos TestesRESUMO
Congenital myopathies and muscular dystrophies constitute a genetically and phenotypically heterogeneous group of rare inherited diseases characterized by muscle weakness and atrophy, motor delay and respiratory insufficiency. To date, curative care is not available for these diseases, which may severely affect both life-span and quality of life. We discuss prenatal diagnosis and genetic counseling for families at risk, as well as diagnostic possibilities in sporadic cases.
Assuntos
Aconselhamento Genético , Distrofias Musculares/diagnóstico , Miotonia Congênita/diagnóstico , Diagnóstico Pré-Natal , Humanos , Distrofias Musculares/patologia , Miotonia Congênita/patologiaRESUMO
1. Sinapis alba L. seedlings contain glycosyltransferase catalyzing the synthesis of sterol glucosides in the presence of UDPglucose as sugar donor. The major activity occurs in the membranous fraction sedimenting at 300--9000 x g. Successive treatment of the particulate enzyme fraction with acetone and Triton X-100 affords a soluble glucosyltransferase preparation which can be partly purified by gel filtration on Sephadex G-150. Molecular weight of the glucosyltransferase is 1.4 . 10(5). Apparent Km values for UDPglucose and sitosterol are 8.0 . 10(-5) M and 5.0 . 10(-6) M, respectively. 2. Comparison was made of the S. alba glucosyltransferase with a similar sterol-glucosylating enzyme isolated from non-photosynthesizing organism Physarum polycephalum (Myxomycetes). UDPglucose was the most efficient glucose donor in both cases but the enzyme from Ph. polycephalum can also utilize CDPglucose and TDPglucose. Glucose acceptors are, in case of both enzymes, sterols containing a beta-OH group at C-3 and a planar ring system (5 alpha-H or double bond at C-5). The number and position of double bonds in the ring system and in the side chain, as well as the presence of additional alkyl groups in the side chain at C-24 are of secondary importance. 3. The present results indicate that both enzymes can be regarded as specific UDPglucose:sterol glucosyltransferases. Certain differences in their specificity towards donors and acceptors of the glucosyl moiety suggest, however, a different structure of the active sites in both enzymes.
Assuntos
Glucosiltransferases/metabolismo , Physarum/enzimologia , Plantas/enzimologia , Cromatografia em Gel , Glucosiltransferases/isolamento & purificação , Cinética , Esteróis , Especificidade por Substrato , Uridina Difosfato GlucoseRESUMO
Fatty acids C12-C22 are components of acylated steryl glucosides in Calendula officinalis. Various particulate fractions from 14-day-old seedlings catalyze the esterification of the steryl glucosides with utilization of endogenous acyl donors. The activity seems to be associated mainly with the membranous structures being fragments of Golgi complex, as it has previously been suggested for UDPG: sterol glucosyltransferase. Succesive treatment of the particulate enzyme fraction with Triton X-100 and acetone affords a soluble acyltransferase preparation partly depleted of endogenous lipids. As a source of acyl groups for the synthesis of steryl acylglucosides this preparation utilizes various phospholipids obtained from the same plant in the following sequence: phosphatidylinositol greater than phosphatidylethanolamine greater than phosphatidylcholine. It does not utilize triacylglycerols and monogalactosyldiacylglycerols.
Assuntos
Glucosídeos/metabolismo , Glicosídeos/metabolismo , Plantas/metabolismo , Esteroides/metabolismo , Aciltransferases/metabolismo , Centrifugação com Gradiente de Concentração , Ácidos Graxos/análise , Glucosídeos/análise , Complexo de Golgi/análise , Membranas/análise , Fosfolipídeos/metabolismo , Plantas/análise , Polietilenoglicóis , Esteroides/análise , Frações Subcelulares/metabolismo , Fatores de TempoRESUMO
Arylsulfatase A (ASA) pseudodeficiency (Pd) was defined as the in vitro measurement of low enzyme activity in a healthy person. A variable incidence of the Pd allele was found in different populations; it was 10-20 times higher than that of metachromatic leukodystrophy (MLD). In Poland we estimated the incidence of the Pd allele at 6% and that of isolated 1788 mutation (loss of glycosylation site) at 3%. Out of 8 cases with neurological symptoms and low ASA activity, 2 were found to be homozygous for the Pd allele; 2 MLD patients had healthy siblings homozygous for the Pd allele and another patient's allele bore two mutations, Pd and that causing MLD.
Assuntos
Cerebrosídeo Sulfatase/deficiência , Frequência do Gene , Leucodistrofia Metacromática/epidemiologia , Leucodistrofia Metacromática/genética , Alelos , Heterozigoto , Homozigoto , Humanos , Leucodistrofia Metacromática/enzimologia , Polônia/epidemiologiaRESUMO
Studies on the mutation 563T and silent mutation 1311T of the glucose-6-phosphate dehydrogenase (G6PD) gene in Poland were performed in 26 families affected with G6PD deficiency classified-according to WHO-as group 2 G6PD deficiency. Both mutations were found in 19 families, including 17 of Polish origin. Mutation 563T alone was found in 1 Greek female. The frequency of the silent mutation 1311T in Polish unaffected controls was 0.10. It is postulated that at least parts of the Polish (or Middle-Eastern European) and Mediterranean populations are of a common origin.
Assuntos
Deficiência de Glucosefosfato Desidrogenase/genética , Mutação , DNA/análise , Eritrócitos/enzimologia , Favismo , Feminino , Deficiência de Glucosefosfato Desidrogenase/etnologia , Humanos , Masculino , Polônia/epidemiologia , Reação em Cadeia da PolimeraseRESUMO
Analysis of 102 Polish Duchenne/Becker muscular dystrophy (D/BMD) patients was performed by 'multiplex' amplification of 22 fragments of the DMD/BMD gene and deletions were found in 55% of the patients. The data obtained using PCR were compared with results of 25 Southern blotting and hybridization experiments with cDNA probes and with immunostaining using anti-dystrophin antibodies. In order to determine more precise deletion breakpoints, additional experiments were performed on dystrophin transcripts isolated from peripheral blood lymphocytes. These data found direct application in carrier analysis in the respective families by detection or exclusion of aberrant cDNA fragments. Carrier detection was also performed by RFLP-PCR, analysis of polymorphic (CA)n repeats and single stranded conformational polymorphism (SSCP) for selected exons of the DMD gene.
Assuntos
DNA/sangue , Triagem de Portadores Genéticos , Testes Genéticos , Distrofias Musculares/genética , RNA/sangue , Transcrição Gênica , Feminino , Humanos , Masculino , Repetições de Microssatélites , Reação em Cadeia da Polimerase , Polimorfismo Conformacional de Fita Simples , Deleção de SequênciaRESUMO
UDP-glucose:solanidine glucosyltransferase and UDP-galactose:solanidine galactosyltransferase from cytosol of potato sprouts were partially separated by Sephadex G-100 and Q-Sepharose chromatographies, proving the existence of different glycosylation systems in biosynthesis of alpha-chaconine and alpha-solanine.
Assuntos
Galactose/metabolismo , Galactosiltransferases/isolamento & purificação , Galactosiltransferases/metabolismo , Glucosiltransferases/isolamento & purificação , Glucosiltransferases/metabolismo , Proteínas de Plantas/isolamento & purificação , Proteínas de Plantas/metabolismo , Solanina/análogos & derivados , Solanina/metabolismo , Solanum tuberosum/metabolismo , Sequência de Carboidratos , Cromatografia , Dextranos , Glicosilação , Dados de Sequência Molecular , Solanum tuberosum/enzimologiaRESUMO
Acetone powder preparations from the roots of white mustard (Sinapis alba L) seedlings efficiently catalyse the esterification of [1-14C]n-hexadecanol in the presence of tripalmitoylglycerol as the fatty acid source. Free palmitic acid as well as mono- and dipalmitoylglycerols are much less effective which indicates that a direct acyl transfer from triacylglycerols to long-chain alcohols takes place. The formation of wax esters was also followed using tri-[1-14C]palmitoylglycerol and unlabelled alcohol. In this reaction straight-chain, saturated and unsaturated, primary alcohols as well as an isoprenoid alcohol--phytol can be utilized as acyl acceptors. Of the saturated straight-chain alcohols, C20 alcohol was esterified most efficiently. Triacylglycerols containing fatty acids C12-C22, both saturated and unsaturated, can serve as acyl sources. Among triacylglycerols containing saturated fatty acids trimyristoyl- and tripalmitoylglycerols are the best acyl donors.
Assuntos
Aciltransferases/metabolismo , Plantas/enzimologia , Ceras/biossíntese , Sistema Livre de Células , Esterificação , Álcoois Graxos/metabolismo , Mostardeira , Plantas Medicinais , Especificidade por Substrato , Triglicerídeos/metabolismoRESUMO
DNA analysis was carried out in 113 patients of 103 families. In 58 families (55%) deletions were found using different cDNA probes. The attempt of studying the correlation between mental retardation in patients and the exon deletions was made. Dystrophin was evaluated in 80 patients including 12 affected females. One girl had chromosomal translocation X;22 and was a true DMD case. An unusual pedigree typical of X-linked transmission with affected subjects showing clinical features of DMD but with normally expressed dystrophin is presented. Owing to DNA and dystrophin analysis the correct diagnosis in some doubtful cases of muscular dystrophies could be established and some unusual pedigrees detected.
Assuntos
Distrofina/genética , Distrofias Musculares/genética , Adolescente , Adulto , Criança , Pré-Escolar , Mapeamento Cromossômico , Sondas de DNA , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , FenótipoRESUMO
54 patients from 45 families were examined one to twelve years after the hospitalization in the Department of Neurology in Warsaw in period between the years 1980 and 1992. The diagnosis of the limb-girdle muscular dystrophy (LGMD) was established, or seriously considered during the first examination. Presently verification of the diagnosis is performed on the basis of DNA analysis and muscular dystrophin assessment. In 14 cases dystrophinopathy was revealed: 13 patients with Becker muscular dystrophy (BMD) and one female manifesting carrier. This examination is of great importance for genetic counselling and for correct diagnosis of sporadic male cases and girls manifesting carriership.
Assuntos
Distrofias Musculares/genética , Adolescente , Idade de Início , Anticorpos Monoclonais , Criança , Pré-Escolar , Cromossomos Humanos Par 21 , DNA/análise , Feminino , Deleção de Genes , Humanos , Cariotipagem , Masculino , Cromossomo XRESUMO
Carrier/noncarrier status of the mutated dystrophin gene was established in 9 females from four families with Duchenne/Becker muscular dystrophy, in which samples of DNA from the affected members were not available. Analysis of extra- and intragenic polymorphic segments of the dystrophin gene enabled identification of two female carriers and exclusion of carriership in four females. In three cases the results were not informative because of recombination in the analysed segment of the gene.
Assuntos
Distrofina/genética , Triagem de Portadores Genéticos , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Mutação Puntual/genética , Alelos , Análise Mutacional de DNA , Feminino , Deleção de Genes , Testes Genéticos , Humanos , Masculino , LinhagemRESUMO
RFLP polymorphism and the sequence of repeated CA were analysed by means of polymerase chain reaction in 62 families in which cases of DMD/BMD had occurred. The established carriers were suggested to undergo prenatal examinations for avoiding giving birth to a child with Duchenne or Becker type of muscular dystrophy.
Assuntos
Distrofina/genética , Triagem de Portadores Genéticos , Distrofias Musculares/genética , Mutação Puntual , Feminino , Humanos , Masculino , Reação em Cadeia da Polimerase , Polimorfismo Genético , Polimorfismo de Fragmento de Restrição , Fatores Sexuais , Cromossomo XRESUMO
A search for female mutation carriers was performed in 40 families with an isolated case of Duchenne/Becker muscular dystrophy due to a deletion in the dystrophin gene. Intragenic restriction sites and microsatellite sequences (CA repeats) were analysed in females possible carriers of the deletion. Application of this approach enabled us the detection of the deletion in 19 females in 9 families and exclusion of the deletion in 41 females in 23 families. The results of DNA analysis in the remaining 8 families were not informative.
Assuntos
Distrofina/genética , Deleção de Genes , Triagem de Portadores Genéticos , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Criança , Análise Mutacional de DNA , Feminino , Testes Genéticos , Humanos , Masculino , Repetições de Microssatélites/genética , Distrofia Muscular de Duchenne/epidemiologia , Linhagem , Mutação Puntual/genética , Polimorfismo Genético/genética , Cromossomo X/genéticaRESUMO
DNA was isolated and analysed in 96 patients with Duchenne or Becker muscular dystrophy (DMD, BMD); 9 of them were affected with BMD. Delections were found in 60 Patients (62.5%) using six cDNA probes. In some cases the PCR technique was also applied. In patients with BMD all deletions but one were in frame and involved exons 45-54. On the contrary, most deletions in DMD were out of frame and varied in their location. In five families prenatal diagnosis was carried out.