Lege Artis Medicinae

[Minimally invasive hip replacement surgery]

UDVARHELYI Iván, HANGODY László

OCTOBER 20, 2004

Lege Artis Medicinae - 2004;14(10)

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Lege Artis Medicinae

[13th European Stroke Conference]

KÁPOSZTA Zoltán

Lege Artis Medicinae

[LONG-TERM RESULTS OF ENDOSCOPIC SPHINCTEROTOMY - EFFECTS OF THE TRANSECTION OF BILE PAPILLA]

DÖBRÖNTE Zoltán

[The abolishment of the choledochoduodenal pressure gradient due to endoscopic sphincterotomy results in the enhancement of the enterohepatic circulation of the bile salts, in the reduction of the cholesterol saturation index and in the modification of the gallbladder function: the reduced gallbladder storage time and the increased ejection fraction facilitates gallbladder emptying. On the contrary, bacterial colonisation of the bile ducts due to duodenobiliary reflux plays a causative role in the increased risk of pigment stone formation. However, when the biliary tree is well-drained, no clinically relevant chronic inflammation develops, furthermore there is no evidence for an increased cancer risk caused by the duodenobiliary reflux. Long-term complications may occur in about 12%, as the recurrence of common bile duct stones, post-EST papillary stenosis, and biliary symptoms caused by retained gallbladder stones. Risk factors for recurrence of bile duct stones are juxtapapillary duodenum diverticulae and persistently dilated bile ducts being the main reason for papillary restenosis and sphincterotomies are mainly performed because of papillary stenosis. In cases of retained gallbladder with stones patency of the cystic duct and contractility of the gallbladder are important predictive factors of late gallbladder complications as it was confirmed by our investigations. Accordingly, small gallbladder stones may pass spontaneously after EST. The indication of a cholecystectomy following EST should be considered individually, particularly in elderly patients. As 30-year-experience confirms, EST is a safe and effective treatment of choledocholithiasis and papillary stenosis even in the long term, and also in young patients. Regular follow-up of patients with high risk for recurrent biliary symptoms is recommended to detect late complications and treat them endoscopically in time.]

Lege Artis Medicinae

[THE SIGNIFICANCE OF THE CARE OF CHILDREN WITH CLEFT LIP AND PALATE IN THE GENERAL PRACTICE]

HIRSCHBERG Jenő

[The cleft lip and palate (i.e. facial cleft) is a frequent and distorting abnormality. The basics of the successful management are the early introduction of therapy and a well-trained team with all relevant specialists included (surgeon, otolaryngologist, orthodontist, speech therapist) as well as good collaboration with the parents and general practitioners being also an important factor. The author with his co-workers has performed more than 6000 surgeries in about 3500 children with facial cleft in the last 45 years and has treated 60-70 patients annuallly with velopharyngeal insufficiency without cleft. According to his experience and international data he summarizes the etiology, pathomechanism of facial clefts and discusses its symptoms, functional consequences and the surgical and conservative solutions are suggested. The recent Hungarian prevalence is 1:500. Specific prevention does not exist, the 5-6% recurrent cleft risk may be decreased to half by administration of folic acid. The generally accepted timing of the lip plasty is the 3-month age. The palatoplasty may be performed in one or two stages, but closure of the velum should be made before the development of speech by all means. The logopedic treatment (speech therapy) should be started, if the speech disorder is already obvious and the child is able to cooperate with the speech therapist. If conservative therapy is unsuccessful, (velo)pharyngoplasty is proposed at the age of 5. The orthodontic treatment should begin in mixed dentition, major nose correction and oral surgery are allowed only after puberty. Just because of a cleft the infant does not aspirate, the brestfeeding is beneficial and could be performed in most cases. Regular hearing control is recommended because of frequent ear and hearing problems. It is suggested to provide the parents with written instruction about outcome, prognosis and timetable of management, which could be helpful also for the general practitioners.]

Lege Artis Medicinae

[CURRENT PRACTICAL VACCINOLOGY]

JELENIK Zsuzsanna

[The author deals with the current situation and new trends of vaccinology by focusing on the interests of practitioners. The main topics are the changes of antigens (such as pertussis, measles, or poliomyelitis) to provide better efficacy and milder reactogenity or less adverse events. Purifying the vaccines, like thiomersal and human proteins free vaccines is another proven method to achieve better safety. New antigens e.g. Rota, Lyme, meningococcus B are in the pipeline of vaccinology. The aim of producing a combined vaccine is to achieve immunity against more diseases with less inconvenience for the patient, while achieving higher vaccine coverage (DPT-Hib-HBV-IPV). The epidemiological and clinical experiences will influence the current vaccine schedule such as revaccinations of MMR, and remove the need for revaccinations of BCG and hepaB. The special target groups of immunizations are the elderly and patients with chronic disease. Groups of specialists are working on the vaccine recommendation guidelines for certain risk groups. At the same time, with the successful eradication of polio in Europe the practitioners now have to face the antivaccination movement, as well. The main tools to convince people about the benefit of vaccinations are health education and information.]

Lege Artis Medicinae

[REVERSAL]

MATOS Lajos

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[Diagnosis and treatment of microvascular coronary heart disease. Specialities of conditions in Hungary]

SZAUDER Ipoly

[Invasive investigations show that in two-thirds of patients the myocardial ischaemia persists without obstructive coronary disease and any other heart conditions (INOCA). The underlying cause may be microvascular dysfunction (CMD) with consecutive microvascular coronary disease (MVD) and microvascular or epicardial vasospastic angina (MVA). The modern practice of clinical cardiology while using the developed non-invasive cardiac imaging permits exact measuring of the coronary flow with its characteristic indices. All of these improve the diagnosing of CMD-induced myocardial ischemia and provide opportunity to determine primary MVD cases. Since the recognition and treatment of MVD is significantly underrep­resented in the Hungarian medical care, the primary stable microvascular angina (MVA) is described in detail below with its modern invasive and non-invasive differential diagnosis and treatment, concerning especially its frequency provoked by high blood pressure and female coronary heart diseases. There are highlighted all recommended diagnostic procedures available under domestic conditions.]

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

Neuroscience highlights: Main cell types underlying memory and spatial navigation

KRABOTH Zoltán, KÁLMÁN Bernadette

Interest in the hippocampal formation and its role in navigation and memory arose in the second part of the 20th century, at least in part due to the curious case of Henry G. Molaison, who underwent brain surgery for intractable epilepsy. The temporal association observed between the removal of his entorhinal cortex along with a significant part of hippocampus and the developing severe memory deficit inspired scientists to focus on these regions. The subsequent discovery of the so-called place cells in the hippocampus launched the description of many other functional cell types and neuronal networks throughout the Papez-circuit that has a key role in memory processes and spatial information coding (speed, head direction, border, grid, object-vector etc). Each of these cell types has its own unique characteristics, and together they form the so-called “Brain GPS”. The aim of this short survey is to highlight for practicing neurologists the types of cells and neuronal networks that represent the anatomical substrates and physiological correlates of pathological entities affecting the limbic system, especially in the temporal lobe. For that purpose, we survey early discoveries along with the most relevant neuroscience observations from the recent literature. By this brief survey, we highlight main cell types in the hippocampal formation, and describe their roles in spatial navigation and memory processes. In recent decades, an array of new and functionally unique neuron types has been recognized in the hippocampal formation, but likely more remain to be discovered. For a better understanding of the heterogeneous presentations of neurological disorders affecting this anatomical region, insights into the constantly evolving neuroscience behind may be helpful. The public health consequences of diseases that affect memory and spatial navigation are high, and grow as the population ages, prompting scientist to focus on further exploring this brain region.

Clinical Neuroscience

[Consensus statement of the Hungarian Clinical Neurogenic Society about the therapy of adult SMA patients]

BOCZÁN Judit, KLIVÉNYI Péter, KÁLMÁN Bernadette, SZÉLL Márta, KARCAGI Veronika, ZÁDORI Dénes, MOLNÁR Mária Judit

[Background – Spinal muscular atrophy (SMA) is an autosomal recessive, progressive neuromuscular disorder resulting in a loss of lower motoneurons. Recently, new disease-modifying treatments (two drugs for splicing modification of SMN2 and one for SMN1 gene replacement) have become available. Purpose – The new drugs change the progression of SMA with neonatal and childhood onset. Increasing amount of data are available about the effects of these drugs in adult patients with SMA. In this article, we summarize the available data of new SMA therapies in adult patients. Methods – Members of the Executive Committee of the Hungarian Clinical Neurogenetic Society surveyed the literature for palliative treatments, randomized controlled trials, and retrospective and prospective studies using disease modifying therapies in adult patients with SMA. Patients – We evaluated the outcomes of studies focused on treatments of adult patients mainly with SMA II and III. In this paper, we present our consensus statement in nine points covering palliative care, technical, medical and safety considerations, patient selection, and long-term monitoring of adult patients with SMA. This consensus statement aims to support the most efficient management of adult patients with SMA, and provides information about treatment efficacy and safety to be considered during personalized therapy. It also highlights open questions needed to be answered in future. Using this recommendation in clinical practice can result in optimization of therapy.]

Clinical Neuroscience

[The importance of patient reported outcome measures in Pompe disease]

MOLNÁR Mária Judit, MOLNÁR Viktor, LÁSZLÓ Izabella, SZEGEDI Márta, VÁRHEGYI Vera, GROSZ Zoltán

[In recent decades it has become increasingly important to involve patients in their diagnostic and treatment process to improve treatment outcomes and optimize compliance. By their involvement, patients can become active participants in therapeutic developments and their observations can be utilized in determining the unmet needs and priorities in clinical research. This is especially true in rare diseases such as Pompe disease. Pompe disease is a genetically determined lysosomal storage disease featuring severe limb-girdle and axial muscle weakness accompanied with respiratory insufficiency, in which enzyme replacement therapy (ERT) now has been available for 15 years. In our present study, patient reported outcome measures (PROMs) for individuals affected with Pompe disease were developed which included questionnaires assessing general quality of life (EuroQoL, EQ-5D, SF36), daily activities and motor performance (Fatigue Severity Score, R-PAct-Scale, Rotterdam and Bartel disability scale). Data were collected for three subsequent years. The PROM questionnaires were a good complement to the physician-recorded condition assessment, and on certain aspects only PROMs provided information (e.g. fatigue in excess of patients’ objective muscle weakness; deteriorating social activities despite stagnant physical abilities; significant individual differences in certain domains). The psychological effects of disease burden were also reflected in PROMs. In addition to medical examination and certain endpoints monitored by physicians, patient perspectives need to be taken into account when assessing the effectiveness of new, innovative treatments. With involvement of patients, information can be obtained that might remain uncovered during regular medical visits, although it is essential in determining the directions and priorities of clinical research. For all orphan medicines we emphasize to include patients in a compulsory manner to obtain general and disease-specific multidimensional outcome measures and use them as a quality indicator to monitor treatment effectiveness.]