Search results

Hypertension and nephrology

FEBRUARY 20, 2010

[Symptomes and genetics of nephronophthisis]

TORY Kálmán, VÁRKONYI Ildikó, BERNÁTH Mária, RÉMI Salomon, SOPHIE Saunier, MARIE-CLAIRE Gubler, CORINNE Antignac, TULASSAY Tivadar, REUSZ György

[Nephronophthisis is an autosomal recessive, chronic tubulointerstitial nephropathy, responsible for 6-10% of childhood chronic renal failure cases. Its first symptoms, polyuria-polydipsia, anaemia and failure to thrive precede the development of end-stage renal disease by years. Increased echogenicity with loss of corticomedullary differentiation are the key findings on ultrasound, the lack of cysts does not rule out the diagnosis. Histologically, it is characterized by interstitial fibrosis and irregularities of the tubular basal membrane. Genetically, it is highly heterogeneous. Ten nephronophthisis genes have already been identified in 60% of the patients. The encoded proteins - similarly to other proteins mutated in cystic kidney diseases - are localized to primary cilium-basal body-centrosomal complex.]


NOVEMBER 20, 2004

[The pathophysiological role of the cell surface calcium-sensing receptor New clinical entities and drugs, potential therapeutic targets]

TÓTH Miklós

[The extracellular calcium-sensing receptor (CaSR) was recognized and cloned a decade ago. It is a G-proteincoupled receptor that plays an essential role in the regulation of extracellular calcium homeostasis. Diseases known as familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism and autosomal dominant hypocalcemia are the consequences of naturally occurring mutations of the CaSR. However, the spectrum of the CaSR diseases became more complex with the recognition of both hypo- and hypercalcemic states caused by anti-CaSR autoantibodies. Activating anti-CaSR autoantibodies have been implicated in the pathogenesis of isolated idiopathic hypoparathyroidism and of hypoparathyroidism associated with autoimmune polyglandular syndromes. Inactivating CaSR autoantibodies may cause fluctuating hypercalcemic disorder that resembles primary hyperparathyroidism. The CaSR recently became one of the most intensively investigated target of potential new drugs. Cinacalcet has been approved for the treatment of secondary hyperparathyroidism associated with chronic renal insufficiency and for the management of inoperable or metastatic parathyroid carcinoma.The CaSR may be one of the main molecular target of strontium ranelate, wich is a new antiosteoporotic compound.]

Hungarian Radiology

OCTOBER 20, 2002

[Osteopetrosis in the infancy]

HAJNAL Barbara, BITVAI Katalin, ALMÁSSY Zsuzsanna

[INTRODUCTION - The authors present a relatively rare, autosomal recessive osteogenetic disorder, which appearance is typical in the first year of life. The malignant osteopetrosis of infants has characteristic radiologic and haematologic status, which is often an incidental finding. CASE REPORT - A 6-month-old Chinese boy was referred with the suspition of bronchopneumony to perform a chest Xray. On the bases of our findings, additional X-ray studies were done (skull, wrist, dorsal spine, hip, femur). A general increase in the density of the bones with characteristic settlement were demonstrated. CONCLUSION - Reporting such a rare disease may help in the differential diagnosis of the osteopathies with diffusely increased density.]

Clinical Neuroscience

NOVEMBER 30, 2007


KOVÁCS Gábor Géza

[acquired. The human prion protein gene (PRNP) is located to chromosome 20 (20p12-ter). Mutations and polymorphisms in the PRNP are associated with prion disease. Genetic prion diseases are inherited in an autosomal dominant trait, examination of the penetrance is restricted to mutation E200K (59-89%). Mutations can be substitutions or insertions. Genetic prion diseases are classified according to the clinicopathological phenotype and comprise genetic Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease and fatal familial insomnia. Base pair insertions may resemble Creutzfeldt-Jakob disease or Gerstmann-Sträussler-Scheinker disease phenotypes, however, their unique clinicopathological presentations are also emphasized. Among the polymorphisms of the PRNP, the one at codon 129 is the most important, where methionine or valine may be encoded. This polymorphism is known to influence the phenotype of disease forms. Molecular classification of sporadic Creutzfeldt-Jakob disease also depends on the codon 129 polymorphisms in addition to the Western blot pattern of the protease resistant prion protein. According to this at least six well characterised forms of sporadic Creutzfeldt-Jakob disease are known. Influence of other genes were also investigated. Contrasting results are reported regarding the role of apolipoprotein E allele ε4, but presence of allele ε2 seems to influence the prognosis. Polymorphisms in the doppel gene or ADAM10 could not be clearly associated with Creutzfeldt-Jakob disease. Polymorphisms in the upstream and intronic regulatory region of the PRNP gene may be a risk factor for Creutzfeldt-Jakob disease. The PRNP codon 129 polymorphism was examined in non-prion diseases. Some studies suggest that this polymorphism may have influence on the cognitive decline and early onset Alzheimer’s disease.]

Clinical Neuroscience

FEBRUARY 20, 2003

[The role of reconstructive surgery for upper limbs in the rehabilitation of tetraplegia (case report)]


[As part of the rehabilitation of tetraplegical patients, movement improving operations have been carried out for more than 30 years. The scant results of the early 70's caused such a standstill and division among professionals, that operations on the upper limbs on tetraplegical patients became questionable. The authors started operating upper limb reconstructions on tetraplegia patients for achieving a basic hand function i.e. keypinch, grasping etc. in 2001. Three cases are quoted and one of them, operated ten months ago is described in details. The postoperative treatment of the other two patients has not finished yet. In 1998, a twenty-three years old girl had her fifth and sixth cervical vertebra broken in a car accident. The rugged break of the fifth vertebral body damaged the spinal chord. After the accident all four limbs became ataxic and a complete numbness occurred distally from the thoracic level of the chest. The patient went through a CV corpectomia, a corpus complementation, a CIV-V dissectomia and a CIV-VII ventrofixation. After the operation the movements of the upper limbs improved but those of the lower limbs did not. Her general condition stabilised after the treatments at the intensive care and the laryngological, the urological and the plastical surgery as well as the complex therapy at the rehabilitation department. She moved around in a wheelchair. After a para-coordinational treatment she was able to lift up small objects, but because of her paralysed bending and stretching finger muscles she was not able to hold heavier objects with her hands. In March 2002 a grip improving operation was carried on her dominant right hand. Twelve weeks after the operation she could lift up a weight of 2 kg and she was able to keypinch and grip with force.]

Lege Artis Medicinae

OCTOBER 20, 2009

[Effect of beta blockers in hypertension, ischaemic heart disease, heart failure and metabolic syndrome]


[Beta-blockers are among the most widely used drugs for the treatment of cardiovascular diseases. In the mid-90’s, these drugs were recommended as first-line therapies of hypertension. With the introduction of new drugs, the list of first-choice drugs has been extended. The results of recently published major hypertension trials, which compared conventional agents (beta blockers and/or diuretics) with newer agents (angiotensin converting enzyme inhibitors, Caantagonists, angiotensin receptor blockers), raised concerns regarding the role of beta blockers in cardiovascular primary prevention. Subsequently, a metaanalysis of 13 trials has shown that compared with other drug types, beta-blocker therapy is less beneficial in patients with hypertension who do not have heart disease. Nevertheless, in cardiovascular indications other than hypertension (acute myocardial infarction, heart failure and arrhythmias), betablockers retain their dominant position.]

Clinical Neuroscience

OCTOBER 10, 2004

[Dysexecutive syndromes]


[Executive function is a higher order cognitive capacity that involves memory, perception and performance of complex tasks. Disorders of the executive functions are sign of lesions in the praefrontal cortex, involving the praefrontal-striatal-thalamic networks and the parietal association areas. According to signs and localization, five basic praefrontal syndromes are recognised. 1. Damage in posterior dorsolateral praefrontal cortex and subcortical nuclei causes the dorsolateral syndrome with impaired decision making, working memory and planning. 2. The ventromedial-orbitofrontal syndrome: if lesion spares the basal forebrain, memory can be preserved, but poor social decision making developes. 3. The dorsomedial syndrome consists of attention disorder, akinesia, mutism and apathy. 4. The bilateral ventrolateral praefrontal regions serve perception of self and environment. 5. The ventral lateral (verbalizer) area of the dominant hemisphere coordinates language. Executive impairments can be found in cerebrovascular, Parkinson's and other diseases of basal ganglia, and in frontotemporal lobar degeneration. The dorsolateral syndrome can be examined by the use of Wisconsin card sorting test, self ordered pointing task and the delayed response task. Praefrontal-basal function can be assessed by Gambling-, Faux Pas-, and Emotion identification tasks. Conclusions: 1. A dysexecutive syndrome does not fulfil the criteria of dementia. 2. A "frontal syndrome" is an indefinite eponym. Focal lesions in prefrontal systems lead to localization- specific symptoms, which can be defined by psychometric tests. 3. In neurological diseases associated with multifocal damage of the brain neuropsychologic tests may help to determine strategical lesions, which are responsible for the actual syndromes.]

Hungarian Immunology

MARCH 20, 2002

[Patomechanism of hereditary angioneurotic oedema and provoking factors of oedematous attacks]

FARKAS Henriette

[The author describes the genetic background of hereditary angioneurotic edema, an autosomal dominant disorder. The pathomechanism of edemaformation and the significance of major mediator substances are explained along with clinical manifestations and their management. A special emphasis is placed on prophylaxis, the mainstay of which is the elimination of precipitating factors. The latter include mechanical trauma, diagnostic and therapeutic interventions performed in the cephalic-cervical region, mental stress, and sex hormones. The effect of endocrine therapies, ACE inhibitors, and infections - Helicobacter pylori in particular - on the natural course of the disease is also discussed.]

Clinical Neuroscience

NOVEMBER 30, 2006


GÁRDIÁN Gabriella

[Huntington’s disease is an autosomal dominantly inherited progressive neurodegenerative disorder. The main symptoms are choreiform, involuntary movements, personality changes and dementia. Huntington’s disease is a member of a group of diseases caused by CAG repeat expansions. One research aim is to determine the earliest molecular changes associated with Huntington’s disease. There is no possibility for this in humans, but various early changes have been identified in an animal model of Huntington’s disease. They are constructed by excitotoxin causing striatal lesion, or mitochondrial toxins inducing energy impairment, or by generating transgenic mice.]

Clinical Neuroscience

DECEMBER 20, 2003

[Serotonin dysfunctions and the „Seven Deadly Sins”]

JANKA Zoltán

[The symbolic characters of the Seven Deadly Sins can be traced from time to time in the cultural history of human mankind, being directly specified in certain artistic products. Such are, among others, the painting entitled „The Seven Deadly Sins and the Four Last Things” by Hieronymus Bosch and the poems Divina Commedia and The Faerie Queene by Dante Alighieri and Edmund Spenser, respectively. However, there are several paragraphs referring to these behaviours of the Seven Deadly Sins in the Bible and in the dramas of William Shakespeare. The objective of the present review is to propose that dysfunctions in the central serotonergic system might be involved in the the neurobiology of these ’sinful’ behaviour patterns. Evidences indicate that behaviour traits such as Accidia (Sloth), Luxuria (Lust, Lechery), Superbia (Pride), Ira (Wrath, Anger), Invidia (Envy), Avaritia (Greed, Avarice), and Gula (Gluttony) can relate to the functional alterations of serotonin in the brain. Results of biochemical and molecular genetic (polymorphism) studies on the human serotonergic system (receptor, transporter, enzyme), findings of functional imaging techniques, effects of depletion (or supplementation) of the serotonin precursor tryptophan, data of challenge probe investigations directed to testing central serotonergic functions, alterations in the peripheral serotonin measures (platelet), and the changes in the CSF 5-hydroxy-indoleacetic acid content indicate such serotonergic involvement. Furthermore, results of animal experiments on behaviour change (aggressive, dominant or submissive, appetite, alcohol preference) attributed to serotonin status modification and the clinically evidenced therapeutic efficacy of pharmacological interventions, based on the modulation and perturbation of the serotonergic system (e.g. selective serotonin reuptake inhibitors), in treating the ’sinful’ behaviour forms and analogous pathological states reaching the severity of psychiatric disorders (depression, sexual disturbances, social phobia, impulsivity-aggression, obsessive-compulsive and related spectrum disorders, paranoid jealousy, eating disorders) all strongly suggest the possibility that brain serotonin dysfunctions might underlie the neurophysiology of the Seven Deadly Sins.]