Optional anatomy and physiology e-learning resources: student access, learning approaches, and academic outcomes.

Anatomy and physiology interactive video clips were introduced into a blended learning environment, as an optional resource, and were accessed by ~50% of the cohort. Student feedback indicated that clips were engaging, assisted understanding of course content, and provided lecture support. Students could also access two other optional online resources, lecture capture recordings and an interactive atlas of anatomy, and individuals were tracked with respect to their access behavior, learning approach, and subject score.

Stop Think: a simple approach to encourage the self-assessment of learning.

A simple "stop think" approach was developed to encourage the self-assessment of learning. A key element was the requirement for students to rate their feeling of difficulty before [FOD] and after [FOD] completing each of three authentic anatomy and physiology concept map exercises. The cohort was divided into low- (group L) and high-performing (group H) groups (based on final subject marks).

Y-chromosome markers in Turner syndrome: Screening of 130 patients.

Background: The presence of Y-chromosome material in patients with Turner syndrome (TS) is a risk factor for the development of gonadoblastoma. Cytogenetic analysis detects Y-chromosome mosaicism in about 5% of Turner patients. However, if Y-chromosome sequences are present in only a few cells, they may be missed by routine analysis.

An evaluation of the Bausch & Lomb Zywave aberrometer.

Purpose: The Bausch & Lomb Zywave uses Shack-Hartmann aberrometry to determine wavefront aberrations of the human eye and provide an estimate of refractive error. We investigated the effect of pupil size on the repeatability and validity of refractive errors estimated by the Zywave and the repeatability of higher-order aberrations.

Methods: Twenty-three subjects were measured with the Zywave under natural and cycloplegic conditions on two occasions separated by at least one week.

Multipoint interphase FISH in childhood T-acute lymphoblastic leukemia detects subpopulations that carry different chromosome 3 aberrations.

We examined chromosome 3 in 32 childhood acute lymphoblastic leukemia (ALL) bone marrow samples. Using interphase multipoint FISH (mp-FISH), which was developed by our group, with 42 chromosome 3-specific probes, we detected clonal chromosome 3 aberrations in 4 T-cell ALL (T-ALL) cases. Four out of seven T-ALL cases carried 3q trisomies.

Determinant role of education in the ethical aspects of resuscitation: a German/Hungarian comparison.

Unlabelled: Introduction, objectives: Bioethical principles concerning Do Not Attempt Resuscitation (DNAR) orders are connected significantly with education according to our previous investigation. In order to confirm the hypothesis, Hungarian results were compared with the data gained from a highly qualified homogeneous group of German doctors, showing similar cultural traditions.

Methods: The questionnaire investigated the factors influencing DNAR orders as functions of intensive medical experience, ideological view and professional education, using a 5-point visual analogue scale.

[Incomplete androgen insensitivity].

In the androgen insensitivity syndrome (AIS) the androgen effect is decreased in the fetus and the youth despite the adequate testosterone production. Usually the mutation of the androgen receptor is responsible for the disease. In the presented case the external genitalia were similar to female genitalia but masses were palpable in the labioscrotal fold.

[Ethical aspects of resuscitation].

The former typically paternalistic physician-patient relationship has changed gradually toward an autonomy based one in the second half of the 20th century. Patient's autonomy includes the right to refuse life-saving therapy in modern constitutional states. Hungarian law assures the right to refuse life-saving treatment as well.

[Identification of 3q21q26 syndrome by "multipoint" interphase FISH analyses in childhood myeloid leukemia].

Cytogenetic syndrome involving bands 3q21 and 3q26, known as "3q21q26 syndrome" has been observed in adult patients with acute myelogenous leukemia (0.5-2%), chronic myelogenous leukemia in blast crisis (20%), myelodysplastic syndromes and myeloproliferative disorders. In the present study bone marrow samples from two boys (12 and 16 years), diagnosed with CML and AML respectively, were investigated using conventional cytogenetic methods, interphase "multipoint" fluorescence in situ hybridization (FISH), dual color-FISH and multiplex FISH.

Construction of a combined physical and genetic map of the chromosome of Lactobacillus acidophilus ATCC 4356 and characterization of the rRNA operons.

The combination of PFGE and hybridization approaches was used to study the genome of Lactobacillus acidophilus neotype strain ATCC 4356. PFGE analysis of chromosomal DNA after digestion with each of the rare-cutting restriction enzymes I-CeuI, NotI, CspI, SmaI, ApaI and SgrAI allowed the size of the circular chromosome of L. acidophilus to be estimated at 2.

Prevalence of alpha1-antitrypsin phenotypes in patients with IgA nephropathy.

Background: alpha1-antitrypsin (AAT) is the main protease inhibitor in the blood. Several different AAT phenotypes exist. The most common variant is the MM phenotype, which is also associated with normal AAT levels.

Ethical considerations behind the limitation of cardiopulmonary resuscitation in Hungary--the role of education and training.

Introduction: Although the long term success of cardiopulmonary resuscitation (CPR) is still less than hoped for, its value cannot be questioned when carried out appropriately in selected cases. Resuscitation frequently brings only short-term success, and several patients suffer severe consequences also causing an economic, medical and ethical burden to society. The issue of limitation of resuscitation, including Do Not Attempt Resuscitation (DNAR) and the termination of resuscitation has been surveyed in many European countries using a structured questionnaire.

[Prevalence of the alpha-1 antitrypsin phenotype in Hungary].

Introduction: Alpha-1-antitrypsin deficiency is one of the most common inherited metabolic disorders. The presence of PiZ and PiS alleles alpha-1-antitrypsin deficeing are associated with. The geographical distribution of PiZ and PiS is heterogenous in Europe.

Donor-cell myelodysplastic syndrome developing 13 years after marrow grafting for aplastic anemia.

Donor-cell-derived hematopoietic malignancy is a rare event after bone marrow transplantation. Most cases in the literature occurred within the first year. We present a rare case of a female patient who had a bone marrow transplant for severe aplastic anemia (SAA) at the age of two and a half years from her human leukocyte antigen-identical brother.

HbA1c levels and erythrocyte transport functions in complication-free type 1 diabetic children and adolescents.

Higher erythrocyte sodium-lithium countertransport activity (SLC) is implicated in the development of diabetic nephropathy. Altered glucose homeostasis and genetic susceptibility are claimed to play a role in the elevation of SLC. We aimed to test whether metabolic control or the genetic variants of G protein beta 3 (Gb3) subunits determine SLC and other erythrocyte transport activities in complication-free stage of type 1 diabetes.

Pulsed-field gel electrophoretic analysis of the genome of Lactobacillus gasseri ATCC33323, and construction of a physical map.

Some species of Lactobacillus are of major industrial and health significance as fermenting agents in the manufacturing of food products, as food preservatives, as "probiotic" bacteria or as vaccine delivery vehicles. In spite of their importance, there is a paucity of published information on their genome organization and structure. In this study, a combination of pulsed field gel electrophoresis (PFGE) and hybridization approaches was used to investigate the genome of L.

Integrated polymerase chain reaction-based procedures for the detection and identification of species and subspecies of the Gram-positive bacterial genus Lactococcus.

Aims: Five species of the Gram-positive bacterial genus Lactococcus (Lactococcus lactis, L. garvieae, L. plantarum, L.

[Mucolipidosis II with unusual biochemical parameters].

Introduction: A clinical diagnosis of I-cell disease was established in an infant with coarse face, hyperplastic gums, severe growth deficiency, skeletal deformities and retarded psychomotor development.

Patient/method: Albeit, enzyme measurements in our patient leukocytes and serum including arylsulfatase, hexosaminidase, alpha-fucosidase, iduronate-sulphatase and beta-galactosidase showed no significant alteration, in serum an increased activity of beta-glucuronidase was detected. Enzyme studies in fibroblasts showed an abnormal intracellular/extracellular distribution of enzyme activities, and significantly decreased activity of UDP-N-acetylglucosamine-1-phosphotransferase confirming the diagnosis of I-cell disease.

[Uniparental disomy 7 in the pathogenesis of Silver-Russell syndrome].

The authors report the frequency and the clinical signs of uniparental disomy of chromosome 7 in Silver-Russell syndrome patients. A cohort of 73 families were typed with Short Tandem Repeat markers from chromosomes 7. In 6 patients maternal uniparental disomy 7 (UPD7) was detected.

Monitoring cardiovascular changes during hemodialysis in children.

Hemodialysis (HD) causes rapid volume shifts and circulatory changes. In chronic renal failure (CRF) Na+/K+ATP-ase is depressed, whereas endogenous digoxin-like factor (EDLF) is elevated. Our aim was to characterize HD-induced cardiovascular adaptation and its possible links to Na+/K+ATP-ase and EDLF.

Normal kidney function and elevated natriuresis in young men born with low birth weight.

The aim of our study was to characterize renal function and its relationship to blood pressure in healthy young Caucasian men born with a birth weight under 2,500 g (LBW). Urinary protein patterns, N-acetylglucosamine and gamma-glutamyltransferase activities, fractional sodium and potassium excretions, glomerular filtration rate, blood pressure, and erythrocyte Na+/K+-ATPase activities were determined in 65 subjects, of whom 49 were born with LBW. Signs of glomerular or tubular damage were not detected in the LBW population.

[Life expectancy in Down syndrome infants and children with congenital heart defects, 1974-1997].

Authors analysed 359 cases with Down's syndrome and congenital heart defects registered between 1974-1997 in Hungary. The total death rate was 19.9% (70 cases).