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Biomedical subjects

E Morava

Publications and source records attributed to E Morava.

At least 37 records · Page 2Linked to original sources
PubMed2001

Management dilemmas in patients with hereditary renal adysplasia.

We report a neonatal case of right renal aplasia with left dysplastic kidney and mild pulmonary hypoplasia. The respiratory insufficiency gradually improved on high frequency oscillation and conventional ventilation. Severe hypotension necessitated the use of inotrops. Anuria and electrolyte imbalances were managed by peritoneal dialysis. At age 13 days the baby had a small bowel perforation, developed septic shock and, after discussion with the multi-disciplinary team and the family, inotropic support was withdrawn and the baby died. The family history revealed the father had a newborn from a previous marriage who died secondary to bilateral renal agenesis. Renal studies in the father showed agenesis of the kidney with normal renal functions suggesting the diagnosis of hereditary renal adysplasia, an autosomal dominant condition with variable expression. This case illustrates the importance of renal ultrasound of the parents and siblings of affected newborns with structural kidney anomalies. A general consensus is lacking as to which infants with bilateral renal adysplasia should be aggressively treated.

Abnormalities, Multiple↗
PubMed2000

[22q11.2 chromosome deletion and velo-cardio-facial syndrome in a patient with tetralogy of Fallot].

Velo-cardio-facial syndrome includes the following clinical features: congenital heart anomaly, velo-pharyngeal malformations and dysmorphic facial features. In 80% of the patients microdeletion of the long arm of chromosome 22 can be detected. Many patients with DiGeorge syndrome have the same underlying chromosomal etiology, however the same deletion results in severe dysmorphic features, immune defect, hypocalcaemia and in severe mental retardation. In isolated heart defects deletion can be detected in about 15% of the patients. We report the detection of the microdeletion in a patient with tetralogy of Fallot, minimal dysmorphic facial features and normal psychomotor development. Early diagnosis of 22q11.2 chromosomal deletion is important for genetic counseling and further rehabilitation. We emphasize the importance of genetic screening in patients with isolated congenital heart defects.

Child, Preschool↗
PubMed2000

[Occurrence of X-linked ichthyosis along with atopy].

The cases of children indicate suffering from X-linked ichthyosis accompanied by atopic diseases (bronchial asthma, allergic rhinitis, allergic conjunctivitis, atopic dermatitis) which developed in infancy. The examinations revealed microdeletion of the steroid sulfatase region (Xp22.3), increased total IgE value and polysensibilization. It seems that the steroid sulphatase deficiency in ichthyosis played a role in the development of the atopic diseases. The present study suggests the commencement of a strict diet and antihistamine therapy, already in its infancy, in order to prevent the development of the accompanying atopic diseases.

Adolescent↗
PubMed2000

Isodicentric Y chromosome in an Ullrich-Turner patient without virilization.

We report on a 17-year-old young woman with Ullrich-Turner syndrome (UTS), who was found to have a karyotype 45,X/46,X,idic(Y)(q11). She had age-appropriate genitalia without virilization in spite of the presence of the Y-derived marker chromosome and SRY locus in 70% of her lymphocytes. Having reviewed the literature, we conclude that a possible explanation for the lack of virilization in these mosaic patients is most likely an uneven distribution of tissue mosaicism (gonadal mosaicism).

Adolescent↗
PubMed2000

Velo-cardio-facial phenotype and deletion of 22q11.2 in Hungarian children.

Velo-cardio-facial syndrome is a developmental disorder characterized by heart defects, specific facial features, cleft palate and learning disability. Most patients have a 3-Mb deletion in chromosomal region 22q11.2. This microdeletion has also been found in patients with isolated conotruncal malformations. Although no significant ethnic variability has been reported in the frequency 22q11.2 deletions, some recent studies question the high frequency of this as the underlying cause of velo-cardio-facial syndrome in Anglo-American populations. A screening program was initiated, including a detailed clinical assessment, followed by fluorescence in situ hybridization studies for microdeletion 22q11.2 in 24 children with congenital cardiac malformations referred consecutively to our genetics clinic. We found a high ratio of associated findings including cleft palate and developmental delay in our patient group. The clinical diagnosis of velo-cardio-facial syndrome was established in 8 patients. However, the common deletion was detected in only two children. We conclude that, although the 'velo-cardio-facial phenotype' appears to be common in Hungarian children with congenital cardiac malformations, many patients may have different etiologies other than del(22)(q11.2).

Abnormalities, Multiple↗
PubMed2000

History of the Public Health Institute of Semmelweis Medical University, Budapest.

The science of public health of the XVIIIth century named politia medica together with medicina forensis became an independent obligatory subject in 1793 at the Medical Faculty of the Hungarian Royal University of Science. The independent Public Health Institute of the Medical Faculty was established in 1874. The first professor of public health was József Fodor who attained international reputation during his professorship. He organized training for school physicians and health teachers first in Europe and he organized courses for medical officers and for military doctors. He held courses for law-, engineer- and architect-students. He promoted all fields of the public health. His research on the bactericide effect of serum places him among the founders of immunology. Fodor's successors at the Chair of Public Health were Leó Liebermann whose research activities included physico-chemistry, biochemistry, microbiology and social hygiene; Gusztáv Rigler who focused on the epidemiology of communicable diseases, on the health effects of spa treatment and mineral waters. The next famous professor was Gyula Darányi. His scientific field was public health bacteriology and public health chemistry. They were followed by József Melly and László Dabis (Scheff). After the Second World War fundamental changes took place in the life of the university. The Faculty of Medicine was separated from the University of Science on February 1, 1951 and became an independent university under the control of the Ministry of Health. In 1953 the Institute of Public Health was cut into two separate institutes: Institute of Public Health and Institute for the Organization of Health Service. The Institute of Public Health was transformed to Institute of Public Health and Epidemiology in 1973. The Institute for the Organization of Health Service was transformed into Institute of Social Medicine and History of Medicine in 1985 and later into Institute of History of Medicine and Social Medicine in 1991. The Institute of Public Health and Epidemiology and The Institute of History of Medicine and Social Medicine were reunited as Institute of Public Health in 1997. The Institute teaches public health to medical, dental and pharmacy students in Hungarian, in English and in German.

Academies and Institutes↗
PubMed2000

Health risk factors and mortality in Pécs City, Hungary in the 1990s.

In the period of 1990-1994 an increase of all causes mortality for 35-74 years old males was observed both in Pécs and in all Hungary. From 1994 to 1997 the mortality decreased. Similar changes, but of smaller dimension, were observed in the female population. The increasing mortality of the early 1990s is attributed primarily to the extra psycho-social stress of this period. The data of the population survey at Pécs in 1995-96 were compared to the data of earlier surveys. The mean blood total cholesterol levels and the prevalence of smoking decreased from 1990 to 1996. The prevalence of hypertension and male obesity increased. Physical inactivity, unhealthy diet and lack of improvement of diet still represent significant health problems. High prevalence of increased gamma-glutamyl transferase indicate high prevalence of excess alcohol consumption. The risk factor profile of 18-25 year old males is very unfavourable. Smoking prevalence in females aged 26-35 years exceeds that of males of the same age group. Preventive efforts should be focused to young males and females.

Adolescent↗
PubMed1999

Trinucleotide repeat polymorphism at five disease loci in mixed Hungarian population.

In apparently healthy, unrelated Hungarians we examined triplet repeat length polymorphism at Huntington disease (HD), spinal and bulbar muscular atrophy (SBMA), spinocerebellar ataxia type 1 (SCA-1), dentatorubral-pallidoluysian atrophy (DRPLA), and myotonic dystrophy (MD) loci. The distribution of alleles of the SCA-1 locus was markedly different compared with Asians and Caucasian samples examined by Watkins WS, Bamshad M, and Jorde LB [1995: Hum Mol Genet 4:1485-1491]. The unimodal distribution of peaks was shifted towards the shorter repeats on the average with 4-5 repeats. Alleles under 21 repeats at the SBMA locus were significantly less frequent in Hungarians than in Asians and Caucasians. We also found significant difference in the distribution of DRPLA allele size at repeat length over 15 repeats; these alleles were less frequent in Hungarians compared with Asians and Caucasians. No significant differences were found in alleles at the MD and also at the HD loci compared with the other groups. These findings suggest that these trinucleotide sites in combination with other markers are particularly useful for determination of the genetic origin of a population, if they can be compared with similar subset of data of other populations. The present results could not confirm the large genetic distance between Hungarian and Oriental races and the relatively short distance between Hungarian and other European populations suggested in earlier reports [Czeizel A, Benkmann H-G, Goedde HW, editors. 1991: Genetics of the Hungarian population. Budapest: Akadémiai Kiadó. p 82-334].

Alleles↗
PubMed1999

SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.

Leigh syndrome, a progressive, often fatal, neurodegenerative disorder, is frequently associated with a deficiency in the activity of cytochrome c oxidase (COX), the last enzyme of the mitochondrial respiratory chain. In contrast to NADH:ubiquinone oxidoreductase and succinate dehydrogenase deficiencies, no mutations in nuclear genes encoding COX subunits have been identified thus far. Very recently, however, a Leigh syndrome complementation group has been identified which showed mutations in the SURFEIT-1 (SURF-1) gene. The results of a mutational detection study in 16 new randomly selected COX-deficient patients revealed a new mutation (C688T) in 2 patients and the earlier reported 845delCT mutation in 2 additional patients. In addition, we evaluated the diagnostic value of two-dimensional blue native gel electrophoresis. We show that this technique reveals distinct patterns of both fully and partially assembled COX complexes and is thereby capable of discrimination between COX-deficient SURF-1 and non-SURF-1-mutated patients.

Base Sequence↗
PubMed1999

Deletion patterns of dystrophin gene in Hungarian patients with Duchenne/Becker muscular dystrophies.

Deletion pattern analysis of the dystrophin gene was performed in 159 Hungarian patients with Duchenne/Becker muscular dystrophy. In 116 cases (73% of total patients), exon deletions were detected by PCR amplification. In 37 patients (31.9% of patients with a deletion) one exon was deleted, while five or more exons were missing in 40 children (34.4%). With respect to the proximal-distal distribution of the deletions, 90 children (77.6%) had deletions exclusively at the 3' end of the gene, 21 deletions (18.1%) affected only the 5' end, and in five patients (4.3%) large-scale deletions were detected, which affected both regions. Analysis of the breakpoint distribution pattern in the dystrophin gene showed that, similarly to that observed in several Western European populations, intron 44 was involved most frequently (n = 35, 15.1%) as a starting breakpoint. In the Hungarian population introns 50 and 52 were the second (n = 30, 12.9%) and third (n = 29, 12.5%) most frequently observed hot spots at the 3' end; these seem to be characteristic for the Hungarian patients. At the 5' end the breakpoint peak (n = 6, 2.58%) was in intron two. As it was proposed by previous national studies, our findings also suggest that certain intronic sequences, characteristic for a population, probably determine the development of a preferential breakpoint profile in this disease.

Child↗
PubMed1998

[Molecular biologic screening test (PCR) for fragile X syndrome].

Fragile X syndrome is the most common inherited from of familial mental retardation. It is caused by an expanded CGG repeat in the first exon of the fragile X mental retardation gene. A polymerase chain reaction based technique was used for the identification of full mutations among men. According to our conditions full mutations failed to amplify. An internal control was used at a CG rich region 147 bp upstream of the polymorphic region. The bands were visualised on silver stained polyacrylamide gels. From the 57 individuals studied molecular analysis was performed on 38 males and 16 females. From the 26 males with suspected fragile X syndrome 9 males resulted in no amplification of the 500 kb product, all having a positive cytogenetic result for fragile X syndrome. One cytogeneticly positive male had normal results by molecular studies suggesting a different mutation. All control males had normal results. The results on the 16 females studied were inconclusive. We suggest that our method is highly sensitive and specific for screening males for fragile X syndrome.

Female↗
PubMed1998

[Extracorporeal membrane oxygenation in neonatology: review of the use of the method].

Extracorporeal life support and extracorporeal membrane oxygenation characterize the use of mechanical devices for temporary support of heart and lung function. The mechanical circuit consists of a blood pump (heart), membrane oxygenator (lung: which accomplishes both carbon dioxide removal and oxygen delivery), heat exchanger and a servo-control module. Venous blood is drained from the right atrium through the right internal jugular vein, and returned oxygenated through either the right common carotid artery (venoarterial bypass), or into a large vein (venovenous bypass). All patients treated must be free of coagulopathies, as all patients are anticoagulated. Neonatal candidates should be older than 34 weeks gestational age and weigh more than 2000 grams. As of March, 1997 twenty six patients have been treated with extracorporeal life support at Tulane Medical Center with an overall survival rate of 62%. Twelve neonates with either meconium aspiration or pneumonia have been treated with a 100% survival. Six children with congenital diaphragmatic hernia have been unsuccessfully treated.

Extracorporeal Membrane Oxygenation↗
PubMed1996

[Alpha thalassemia/metal retardation syndrome--a new X-chromosome linked recessive genetically inherited symptom complex].

Two brothers are presented who were previously diagnosed to have atypical Smith-Lemli-Opitz syndrome. On repeated examinations, however, the facial anomalies of the patients suggested that they would have rather alpha-thalassaemia/mental retardation syndrome. The presence of hemoglobin H inclusions in the peripheral red blood cell supported the clinical suspicion. The search for hemoglobin H inclusions should be considered as a screening test when evaluating mentally retarded boys.

Abnormalities, Multiple↗
PubMed1996

X-linked mental retardation syndrome: three brothers with the Brooks-Wisniewski-Brown syndrome.

We report on 3 brothers with growth and mental retardation, bifrontal narrowness, short palpebral fissures, deeply set eyes with entropion, wide bulbous nose, small mouth, myopia, and spastic diplegia. The patients were born to normal and non-consanguineous parents. The similarity of our cases with those recently reported by Brooks et al. [Am J Med Genet 51:586-590, 1994] supports their suggestion that these patients are representative of a distinct entity.

Abnormalities, Multiple↗
PubMed1996

Dandy-Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome.

Hydrolethalus syndrome consists of hydrocephalus, polydactyly, micrognathia, midcranial malformations, visceral abnormalities and perinatal lethality. It was first described in Finland, and only a few other cases outside Scandinavia are known. We report the first Hungarian patient who displayed many signs of the syndrome but had no cleft lip and visceral abnormalities. This observation suggests the existence of oligosymptomic hydrolethalus syndrome, and suggests that Dandy-Walker malformation with polydactyly may be a manifestation of the hydrolethalus syndrome.

Adult↗