[Some problems in genetic counselling in schizophrenic psychoses]
CZEIZEL Endre1, UNGVÁRI Gábor2
AUGUST 01, 1985
Clinical Neuroscience - 1985;38(08)
CZEIZEL Endre1, UNGVÁRI Gábor2
AUGUST 01, 1985
Clinical Neuroscience - 1985;38(08)
[Authors summarize the key principles of diagnosis, genetics and genetic counselling of schizophrenic psychosis for practicing psychiatrists and the medical geneticist from the perspective of genetic counselling. With regard to the strategy of genetic counseling, the importance and simultaneous consideration of socio-cultural, socio-psychological factors and the family emotional-atmosphere are emphasized, in addition to nosological aspects. The special situation of schizophrenic (and psychiatric) patients and their families makes it advisable to set up a separate psychiatric genetic counselor. ]
Clinical Neuroscience
[The authors performed HLA typing in 5 families with tuberous sclerosis (ST), demonstrating a significantly higher prevalence of HLA-A w31 antigen, without involvement of the B an antigen group. An autosomal dominant origin was confirmed in 4 families and a first gene mutation origin in 1 family, based on UV light examination of the outer skin of the family members, with detectable fluorescence of depigmented spots. Of 6 cases of neurofibromatosis (Nf), 4 were forme fruste forms, the inheritance pattern was autosomal dominant in 4 families and first gene mutation in 1 family was proven. The authors also discuss the diagnostic value of computed tomography in the above pathologies. ]
Clinical Neuroscience
[For more than three years in a psychiatric unit, they have managed to engage 6 of the 36 paranoid psychotics referred to them for an hour a week, who need extra help. At his request, 2 sensitive neurotics with neurotic neuroses were linked to the group. The group, which had been operating under the same conditions as before, was characterised by the emotional and experiential involvement of the therapists, treating the patients as equals and observing the group process passively and impartially. The results of such complementary treatment are good, although miracles are not expected. As a new finding compared to the scarce literature worldwide on outpatient group psychotherapy with psychotics, we found that disengagement in such groups is difficult and requires even greater empathy and more developed self-awareness of the therapists than the group design. ]
Clinical Neuroscience
[The authors determined the total activity of lactic dehydrogenase (LDH) and malic dehydrogenase (MDH) per wet weight and the percentage distribution of LDH isoenzymes in muscle samples taken during thymectomy from the sternothyroid muscle of 62 patients with myasthenia gravis, and calculated the MDH/LDH ratio and the percentage of H and M subunits. In comparing their results with clinical data, they found that significant decreases in the percentage of LDH; isoenzyme and M subunit, and trend-like decreases in total LDH activity and increases in the MDH/LDH ratio per case, correlated with the degree of histopathologically detected ischemia in the samples and the frequency of clinically manifest ischemia and respiratory crises in the history. In their opinion, the biochemical abnormalities observed in the damaged muscle samples indicate a decrease in anaerobic glycolysis in the form of myasthenia gravis with myasthenia gravis associated with muscle atrophy. The histological examination revealed similar but milder abnormalities in intact muscle samples, in addition to an early biochemical sign of muscle destruction, raising the possibility of a possible biochemical level adaptive compensatory mechanism in myasthenic muscle. This study may be a useful adjunct to other known methods for the early detection of muscle wasting as a complication of myasthenia gravis. ]
Clinical Neuroscience
[The course of a female patient with a traumatic aneurysm of the cortical branch of the cerebral medial artery two months after a covered skull injury with a lineal fracture of the lamina vitrea is described. It highlights the importance of performing angiography in cases where the cause of deterioration following trauma is not detected by CT scanning. It provides data to identify the morphological features of traumatic intracranial aneurysms by histological processing of the aneurysm. ]
Clinical Neuroscience
[The authors report on 15 patients with double or multiple tunnel syndrome at the wrist (carpal, thenar and Guyon tunnel syndrome). They draw attention to the importance of electrophysiological investigations and the suspicion of thenar tunnel syndrome. They stress that in carpal tunnel syndrome surgery, the nerve should be followed until it enters the muscle. ]
Lege Artis Medicinae
[The rapidly spreading SARS-CoV2 respiratory virus has evoked an epidemic with serious aftermath around the world. In addition to the health effects, the global economic damage is actually unpredictable. At the same time, the pandemic has launched a series of unprecedented collaborative scientific research, including the development of vaccines. This study summarizes up-to-date information on vaccines, immune memory, and some emerging clinical effects.]
Clinical Neuroscience
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.
Lege Artis Medicinae
[Hungarian professional periodicals started quite late in European context. Their publishing, editing and editorial philosophy were equally influenced by specific historical and political situations. Certain breaking points of history resulted in termination of professional journals (War of Independence 1848-1849, First and Second World Wars), however there were periods, which instigated the progress of sciences and founding of new scientific journals. Both trends were apparent in years after the fall of former Hungarian regime in 1990. The structure of book and journal publishing has changed substantially, some publishers fell “victim” others started successfully as well. The latters include the then-established publishing house Literatura Medica and its own scientific journal, Lege Artis Medicinae (according to its subtitle: New Hungarian Medical Herald) issued first in 1990. Its appearance enhanced significantly the medical press market. Its scientific publications compete with articles of the well-established domestic medical journals however its philosophy set brand-new trends on the market. Concerning the medical community, it takes on its problems and provides a forum for them. These problems are emerging questions in health care, economy and prevention, in close interrelation with system of public health institutions, infrastructure and situation of those providing individual health services. In all of them, Lege Artis Medicinae follows consequently the ideas of traditional social medicine.]
Journal of Nursing Theory and Practice
[To assess sexual function, functionality and quality of life in women with cervical cancer. Descriptive, cross-sectional, quantitative, non-random, purposive sampling of women (N=91) with FIGO stage I/II/III cervical cancer, more than 5 months after last treatment. The study used standard questionnaires with self-designed questions. Data were analysed using Microsoft Excel, descriptive and mathematical statistics (p<0.05). Completers who received radiotherapy scored significantly higher in functional status (p<0.05) and emotional function than those who did not receive radiotherapy (p<0.05). Completers with lower levels of emotional well-being were significantly more likely to have lower levels of sexual function and higher levels of gynaecological problems (p<0.05). Women affected by cervical cancer often experience somatic and psychological disturbances that reflect on quality of life associated with the disease and treatment.]
Journal of Nursing Theory and Practice
[Purpose: Establishing a balance between theoretical and practical training is essential in the training of college nursing students. The aim was to assess the students’ experiences of clinical practice and the problems they indicate in the component, which plays an important role in preparing the training for professional competencies. The study sample consisted of 3rd and 4th grade students (N=96) participating in nursing training at the Faculty of Health Sciences of Semmelweis University. The method of data collection was based on the completion of a quantitative online questionnaire, which also included qualitative elements in the form of three open-ended questions. Among the statements measured on the Likert scale, the balance of theory-practice, the role of participants in education, and the time spent on practical tasks received lower average ranks from both grades. Logistic regression is suitable for estimating the probability of a positive/negative impression of a practice as a combined effect of several explanatory variables. Compared to the results of a previous (2009) study, the problems with field clinical training remain unresolved.]
1.
2.
3.
4.
Journal of Nursing Theory and Practice
[Correlations Between Burnout and Socio-demographic and Workplace Related Factors Among Health-care Workers During The Covid-19 Pandemics]5.
Journal of Nursing Theory and Practice
[Operational Efficiency Investigation from APN Perioperative Perspective]1.
Journal of Nursing Theory and Practice
[Burnout and depression among healthcare nursing staff]2.
Journal of Nursing Theory and Practice
[Evaluation of clinical practices among academic nursing students]3.
Journal of Nursing Theory and Practice
[Identifying osteoporosis in a primary care setting with quantitative ultrasound]4.
Journal of Nursing Theory and Practice
[The Effect of Asthma Bronchiale on Everyday life Activities Among Adolescents]5.
COMMENTS
0 comments