Lege Artis Medicinae

[Genetic counselling service at the congenital diaphragmatic defect]

GÖRBE Éva1, FEKETE Zoltán1, JEAGER Judit1, TÓTH-PÁL Ernő1, PAPP Csaba1

JUNE 30, 1993

Lege Artis Medicinae - 1993;3(06)

[Recurrence risk of congenital diaphragmatic defect in a genetic counselling service has been investigated. Based on the investigation of 78 cases the risk of recurrence proved not significant. The families who have already had a newborn with congenital diaphragmatic defect may be suggested to bear subsequent pregnancies with the support of genetic counselling and intermittent ultrasonography. ]


  1. Semmelweis Orvostudományi Egyetem I. sz. Szülészeti és Nőgyógyászati Klinika Budapest



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Lege Artis Medicinae

[The role of angiotenzin converting enzyme inhibitors in the treatment of hypertension]


[The role of the renin-angiotensin system in the regulation of blood pressure is outlined. The mechanism of action as well as the role of angiotensin converting enzyme inhibitors (ACEI) in the treatment of various forms (primary, secondary, uncomplicated, complicated) of hypertension is discussed. The individualized , stepped care" approach is detailed, therefore the advantages of the therapeutic combinations of ACEi-s are emphasized. Interactions with other antihypertensive agents and with other drugs are also described, and side effects are also briefly addressed]

Lege Artis Medicinae

[Postmenopausal hormone replacement therapy]

H S Jacobs, F E Loeffler

[Over the past year, a number of summary publications on postmenopausal hormone replacement therapy have been published in the UK (1-3). Therefore, in this review we focus on areas that, although often controversial, may be of interest to practitioners. We will discuss the effects of postmenopausal hormone therapy on the risk of ischaemic heart disease, osteoporosis and cancer and present some observations on the concept of oestrogen tachifilaxis and dependence. Our conclusions are summarised in our recommendations on hormone therapy in menopause.]

Lege Artis Medicinae

[Immunohistochemistry of atherosclerotic lesions]


[Cellular interactions within the arterial wall are considered to be essential in the development and progression of atherosclerotic lesions. This paper is a review of the actual knowledge about the role of the macrophages in the process of atherogenesis. The cellular composition of atherosclerotic changes – aligned in a possible consecutive order in which they may progress – are presented and discussed from the author's own immunohistochemical investigation. 108 aortic specimens obtained at autopsy performed within 12 hours following death from young people (20–34 ages) were examined. The Factor VIII positive endothelial lining was well preserved, no desmin content could be demonstrated. In contrary the presence of vimentin was noted in almost all the cells of the aortic wall. The foam cells reacted with different anti-macrophage antibodies, and most of the non-reacting cells of the different lesions proved to be smooth muscle cells. A considerable part of the intimal cells showed HLA-DR positivity as well. The quantity of the T helper lymphocytes in the lesions did not bear any significance. There was relationship between clinical data and types of (early) atherosclerotic lesions in the aorta. It is suggested, that the atherogenetic process starts in the intima with the appearance of smooth muscle cells and an increase in the lipid content. Thereafter macrophages accumulate and lead to the development of foam cells and at the same time they cause tissue damages leading to further smooth muscle proliferation and to classic atherosclerotic changes within the arterial wall.]

Lege Artis Medicinae

[Studies of left ventricular dysfunction]


[510 patients (39.7%) in the placebo group and 452 patients (35.2%) in the enalapril group died. The reduction in cardiac mortality was mainly due to a reduction in progressive heart failure (placebo: 251, enalapril: 209; risk reduced by 22%). There was no appreciable reduction in mortality from arrhythmias without pump failure. However, fewer patients died or were hospitalised due to worsening of circulatory failure (placebo: 736, enalapril: 613; risk reduction 26%; p<0.001).]

Lege Artis Medicinae

[United Kingdom transient ischaemic attack study]


[Patients took the drug with about 85% reliability. The four clinical endpoints - non-fatal myocardial infarction, non-fatal stroke, vascular death or non-vascular death - were 18% less frequent in the two aspirin-treated groups than in the placebo-treated groups (2p = 0.01). The overall incidence of brain haemorrhage with permanent damage and vascular death was reduced by only 7%. There was no appreciable difference between the efficacy of the higher and lower aspirin dose, except that the lower dose was significantly less gastrotoxic.]

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Clinical Neuroscience

Atypical presentation of late-onset Sandhoff disease: a case report

SALAMON András , SZPISJAK László , ZÁDORI Dénes, LÉNÁRT István, MARÓTI Zoltán, KALMÁR Tibor , BRIERLEY M. H. Charlotte, DEEGAN B. Patrick , KLIVÉNYI Péter

Sandhoff disease is a rare type of hereditary (autosomal recessive) GM2-gangliosidosis, which is caused by mutation of the HEXB gene. Disruption of the β subunit of the hexosaminidase (Hex) enzyme affects the function of both the Hex-A and Hex-B isoforms. The severity and the age of onset of the disease (infantile or classic; juvenile; adult) depends on the residual activity of the enzyme. The late-onset form is characterized by diverse symptomatology, comprising motor neuron disease, ataxia, tremor, dystonia, psychiatric symptoms and neuropathy. A 36-year-old female patient has been presenting progressive, symmetrical lower limb weakness for 9 years. Detailed neurological examination revealed mild symmetrical weakness in the hip flexors without the involvement of other muscle groups. The patellar reflex was decreased on both sides. Laboratory tests showed no relevant alteration and routine electroencephalography and brain MRI were normal. Nerve conduction studies and electromyography revealed alterations corresponding to sensory neuropathy. Muscle biopsy demonstrated signs of mild neurogenic lesion. Her younger brother (32-year-old) was observed with similar symptoms. Detailed genetic study detected a known pathogenic missense mutation and a 15,088 base pair long known pathogenic deletion in the HEXB gene (NM_000521.4:c.1417G>A; NM_000521:c.-376-5836_669+1473del; double heterozygous state). Segregation analysis and hexosaminidase enzyme assay of the family further confirmed the diagnosis of late-onset Sandhoff disease. The purpose of this case report is to draw attention to the significance of late-onset Sandhoff disease amongst disorders presenting with proximal predominant symmetric lower limb muscle weakness in adulthood.

Clinical Neuroscience

[Tracing trace elements in mental functions]

JANKA Zoltán

[Trace elements are found in the living organism in small (trace) amounts and are mainly essential for living functions. Essential trace elements are in humans the chromium (Cr), cobalt (Co), copper (Cu), fluorine (F), iodine (I), iron (Fe), manganese (Mn), molybdenum (Mo), selenium (Se), zinc (Zn), and questionably the boron (B) and vanadium (V). According to the biopsychosocial concept, mental functions have biological underpinnings, therefore the impairment of certain neurochemical processes due to shortage of trace elements may have mental consequences. Scientific investigations indicate the putative role of trace element deficiency in psychiatric disorders such in depression (Zn, Cr, Se, Fe, Co, I), premenstrual dysphoria (Cr), schizophrenia (Zn, Se), cognitive deterioration/de­mentia (B, Zn, Fe, Mn, Co, V), mental retardation (I, Mo, Cu), binge-eating (Cr), autism (Zn, Mn, Cu, Co) and attention deficit hyperactivity disorder (Fe). At the same time, the excess quantity (chronic exposure, genetic error) of certain trace elements (Cu, Mn, Co, Cr, Fe, V) can also lead to mental disturbances (depression, anxiety, psychosis, cognitive dysfunction, insomnia). Lithium (Li), being efficacious in the treatment of bipolar mood disorder, is not declared officially as a trace element. Due to nutrition (drinking water, food) the serum Li level is about a thousand times less than that used in therapy. However, Li level in the red cells is lower as the membrane sodium-Li countertransport results in a Li efflux. Nevertheless, the possibility that Li is a trace element has emerged as studies indicate its potential efficacy in such a low concentration, since certain geographic regions show an inverse correlation between the Li level of drinking water and the suicide rate in that area. ]

Clinical Neuroscience

[Comparative analysis of the full and shortened versions of the Oldenburg Burnout Inventory]

ÁDÁM Szilvia, DOMBRÁDI Viktor, MÉSZÁROS Veronika, BÁNYAI Gábor, NISTOR Anikó, BÍRÓ Klára

[Background – The two free-to-use versions of the Oldenburg Burnout Inventory (OLBI) have been increasingly utilised to assess the prevalence of burnout among human service workers. The OLBI has been developed to overcome some of the psychometric and conceptual limitations of the Maslach Burnout Inventory, the gold standard of burnout measures. There is a lack of data on the structural validity of the Mini Oldenburg Burnout Inventory and the Oldenburg Burnout Inventory in Hungary. Purpose – To assess the structural validity of the Hungarian versions of the Oldenburg Burnout Inventory and the Mini-Oldenburg Burnout Inventory. Methods – We enrolled 564 participants (196 healthcare workers, 104 nurses and 264 clinicians) in three cross-sectional surveys. In our analysis we assessed the construct validity of the instruments using confirmatory factor analysis and internal consistency using coefficient Cronbach’s α. Results – We confirmed the two-dimensional structure (exhaustion and disengagement) of the Mini-Oldenburg Inventory and a shortened version of the Oldenburg Burnout Inventory Internal consistency coefficient confirmed the reliability of the instruments. The burnout appeared more than a 50 percent of the participants in every subsample. The prevalence of exhaustion was above 54.5% in each of the subsamples and the proportion of disengaged clinicians was particularly high (92%). Conclusions – Our findings provide support for the construct validity and reliability of the Hungarian versions of the Mini-Oldenburg Burnout Inventory and a shortened version of the Oldenburg Burnout Inventory in the assessment of burnout among clinicians and nurses in Hungary.]

Clinical Neuroscience

Cause of recurrent rhabdomyolysis, carnitine palmitoyltransferase II deficiency and novel pathogenic mutation

ÇAKAR Emel Nafiye, GÖR Zeynep, YEŞIL Gözde

Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal inherited metabolic disorder in which the β-oxidation of the long chain fatty acids is defective. The clinical presentation may be in various forms; it presents itself in the severe form during neonatal and infantile periods and as the less severe myopathic form in the school age and adolescence. While the severity of the rhabdomyolysis attacks varies, occasionally the clinical course may be complicated with acute renal failure. Acylcarnitine analysis may help in the diagnosis of CPT II, but its normality does not indicate the absence of the disease. If there is strong suspicion, genetic analysis should be performed on the cases. In this article, we present a 15-year-old male patient who had two rhabdomyolysis attacks triggered by infection and starvation. Acylcarnitine analysis of the case was normal, CPT II deficiency was considered when the history was evaluated, and CPT II gene c.137A>G (p.Gln46Arg) homozygous novel pathogenic mutation was detected. CPT II deficiency is one of the most common causes of metabolic rhabdomyolysis in patients with recurrent episodes of rhabdomyolysis.

Clinical Neuroscience

[The quality of life of the cluster headache patients during the active phase of the headache]


[Introduction - Cluster headache (CH), which affects 0.1% of the population, is one of the most painful human conditions: despite adequate treatment, the frequent and severe headaches cause a significant burden to the patients. According to a small number of previous studies, CH has a serious negative effect on the sufferers’ quality of life (QOL). In the current study, we set out to examine the quality of life of the CH patients attending our outpatient service between 2013 and 2016, using generic and headache-specific QOL instruments. Methods - A total of 42 CH patients (16 females and 26 males; mean age: 39.1±13.5 years) completed the SF-36 generic QOL questionnaire and the headache- specific CHQQ questionnaire (Comprehensive Headache- related Quality of life Questionnaire), during the active phase of their headache. Their data were compared to those of patients suffering from chronic tension type headache (CTH) and to data obtained from controls not suffering from significant forms of headache, using Kruskal-Wallis tests. Results - During the active phase of the CH, the patients’ generic QOL was significantly worse than that of normal controls in four of the 8 domains of the SF-36 instrument. Apart from a significantly worse result in the ‘Bodily pain’ SF-36 domain, there were no significant differences between the CH patients’ and the CTH patients’ results. All the dimensions and the total score of the headache-specific CHQQ instrument showed significantly worse QOL in the CH group than in the CTH group or in the control group. Conclusion - Cluster headache has a significant negative effect on the quality of life. The decrease of QOL experienced by the patients was better reflected by the headache-specific CHQQ instrument than by the generic SF-36 instrument. ]