Search results

Hypertension and nephrology

SEPTEMBER 20, 2011

[Coexistence of diabetes mellitus and (nephrogenic) diabetes insipidus]

RADÓ János

[In this report we describe a patient with nephrogenic diabetes insipidus associated with diabetes mellitus. The 44-year-old patient was seen by us for the first time when she was 5 years old in 1972, as a member of a family with nephrogenic diabetes insipidus associated with other congenital renal diseases. Surveying five generations by family history we found in four genarations (supported with investigations in three genarations) five patients suffering from the combination of renal tubular acidosis, polycystic kidney disease and nephrogenic diabetes insipidus. Nephrogenic diabetes insipidus was confirmed with blood and urine osmolality measurements performed during water deprivation as well as during administration of synthetic vasopressins. Renal tubular acidosis was confirmed with blood and urine gas analysis and bicarbonate and acid loadings. Polycystic kidney disease was diagnosed with physical findings, imaging and in the case of a deceased patient by necropsy. The autosomal dominant trait was obvious in the family characteristic to the distal renal tubular acidosis and polycystic kidney disease. The clinical picture was dominated by the polydipsia and polyuria. Significant interindividual differences were found in vazopressin resistance responsible for the nephrogenic diabetes insipidus. In our patient metabolic syndrome (diabetes mellitus, hypertension, obesity, abnormal lipid and uric acid levels) and disturbances in calcium metabolism (nephrolithiasis and osteomalacia) were associated with renal disorders. The 39 year long observation period (with some discontinuations) the patient was treated almost without pauses with bicarbonate, desmopressin, thiazide, NSAIDs supplemented with the administration of vitamin D3, antidiabetics etc. Despite of the listed and other diseases the patient’s mood is quite good, her physical condition is relatively satisfactory while she is working regularly physically.]

Clinical Neuroscience

JANUARY 20, 2009

[Genetically determined neuromuscular disorders of some roma families living in Hungary (in English language)]

LÁSZLÓ Aranka, MAYER Péter, KÓBOR Jenõ, RÁCZ Katalin, TÁLOSI Gyula, ENDREFFY Emőke, HERCZEGFALVI Ágnes, HORTOBÁGYI Tibor, TISZLAVICZ László, BEREG Edit, KATONA Márta, SZABÓ János, KARCAGI Veronika

[The authors discuss the clinical and molecular genetic aspects of genetically determined neuromuscular disorders of some Roma families living in Hungary. Among the autosomal recessively inherited spinal muscular atrophic (SMA) group, 8 Caucasian children had the typical 7-8 exonal deletions of the SMA gene, but only 2 patients belonged to the Roma population. There was no difference in the molecular genetic findings among the Caucasian and the Roma SMA patients. All of them had 7- 8 exonal deletions of the SMA gene. We wanted to call attention to the founder mutation of the Roma population in 7 patients suffering from congenital myasthenia (CMS) from 3 Roma families. The 1267G deletion for CMS was detected by molecular genetic method. Clinical onset was pubertal and relatively slow progression of specific and phenotypic features for this founder mutation of acetyl-cholin receptor epsylon gene. In 2 patients (sister and brother) the sarcoglycanopathy 2C type C283Q mutation was proven in one Roma family suffering from limb-girdle muscular dystrophy (LGMD). Two out of the three facioscapular-humeral dystrophy (FSHD) Roma families carried 21.8 kb and 18.5 kb alleles in FSHD A1 gene (D4S139). In one family together with prenatal diagnosis founder mutation in FSHD A1 gene was detected, according to the autosomal dominant (AD) inheritence. In (F2) prenatal diagnosis was carried out, 18.5 kb/18.5 kb homozygosity was proven in the fetus, so the pregnancy was interrupted. In the CMS, LGMD and FSHD Roma patients ancient typical Roma founder mutations were found.]

Lege Artis Medicinae

MAY 26, 2008

[THE REAL FACE OF JUVENILE POLYPOSIS SYNDROME - MALIGNANCY IN A DISEASE PREVIOUSLY THOUGHT TO BE BENIGN]

TAM Beatrix, SALAMON Ágnes, BAJTAI Attila, NÉMETH Annamária, KISS János, SIMON László

[INTRODUCTION - The majority of colorectal cancer cases is sporadic, but familial and autosomal dominant forms should also be considered. Juvenile polyposis syndrome is an autosomal dominant condition caused by mutations in the SMAD4 or the BMPR1A gene. Typically, numerous hamartomatous polyps develop in the upper gastrointestinal and the colorectal area. In contrast to earlier opinions, some of these polyps may transform malignantly, like in the case presented here, at the age of 34-35 years on average. CASE REPORT - During the eighteen-year continuous care of the young man treated for juvenile polyposis, more than a hundred polyps were resected from the gastrointestinal tract. After an eigth-year intermission of surveillance because of insufficient compliance, the patient presented in a severe clinical condition caused by metastatic colorectal cancer. He died after a short palliative therapy at the age of 31. Based on the family tree, all of his living adult first-degree relatives were subsequently examined and juvenile polyposis syndrome was also diagnosed in his older brother. Genetic testing revealed a mutation in the BMPR1A gene in the clinically affected brother, one of his daughters, and also in the deceased proband's child. CONCLUSION - Genetic testing made it possible to relieve the mutation-free relatives of the anxiety and particularly of a number of unnecessary, mainly invasive examinations, while mutation carriers can be given the best possible clinical surveillance.]

Clinical Neuroscience

DECEMBER 20, 2008

[Hereditary neuropathy with liability to pressure palsy in childhood]

GYÖRGY Ilona, BÍRÓ Anna, MECHLER Ferenc, MOLNÁR Mária Judit

[HNPP is an autosomal-dominant inherited disease clinically characterized by painless, episodic, recurrent peripheral palsy often preceded by minor trauma or toxic damage. It generally develops during adolescence and rarely is reported in childhood. We observed two children with this disease. In one of the cases, also the child’s mother is suffering from HNPP. Clinical and genetic characterics of our three patients are summarized in this article.]

Clinical Neuroscience

OCTOBER 20, 2009

[Interhemispheric propagation of seizures in mesial temporal lobe epilepsy]

ERÕSS Loránd, ENTZ László, FABÓ Dániel, JAKUS Rita, SZŰCS Anna, RÁSONYI György, KELEMEN Anna, BARCS Gábor, JUHOS Vera, BALOGH Attila, BARSI Péter, CLEMENS Zsófia, HALÁSZ Péter

[Objectives - To investigate interhemispheric propagation of mesial temporal lobe epilepsy seizures in patients undergoing long-term video-EEG monitoring with combined scalp and foramen ovale electrodes. Aim of the study - To reveal possible interhemispheric propagation patterns in mesial temporal lobe epilepsy, to improve presurgical evaluation of temporal epileptic patients. Methods - Sixty-five seizures from 20 patients were analyzed. We defined two contralateral seizure propagation patterns: Type I for those seizures that spread to the contralateral foramen ovale electrodes earlier than to the contralateral scalp electrodes, and type II for the opposite. Participants - Twenty drug resistant epileptic patients were investigated in frame of their presurgical evaluation. Results - The majority of seizures (80%) were classified as type I. Inter-foramen ovale electrode propagation time was significantly shorter for type I compared to type II seizures. Ninety percent of patients had either type I or type II seizures only. Patients with type I seizures significantly more often had mesiotemporal structural alterations evident on magnetic resonance imaging scans, and became more often seizure-free after surgery compared to patients with type II seizures whose surgical outcome was less favorable or surgery could not be indicated because of independent bilateral ictal seizure-onset. Conclusions - The two types of contralateral propagation patterns we are describing seem to represent two subtypes of mesial temporal lobe epilepsy with different morphological and prognostic features. The predominance of type I over type II seizures together with shorter propagation times for type I seizures indicate a role of a more direct and dominant interhemispheric pathway in mesial temporal lobe epilepsy.]

Lege Artis Medicinae

FEBRUARY 21, 2004

[POSTMENOPAUSAL HYPERTENSION]

SZÉKÁCS Béla

[Women with normal cycles on the average have lower blood pressure than age matched men. From the fifth decade of life increasing average blood pressure values of females reach or even exceed the levels of males. The frequency of hypertension among women in menopause and postmenopause is 3-4 times greater than in premenopause. This great difference can not be explained by the age dependent increase in blood pressure. There are several pathological components in the background of the elevation of blood pressure following the reduction and failure of female sex hormone production. Among these components are lifestyle changes, reduced physical activity, growing body weight, increased sympathetic activity, higher RAS (renin-angiotensin system) influence and increased salt dependence of blood pressure seem to be the dominant factors. Contrary to earlier suggestions recent clinical findings have proved that estrogen or combined hormone replacement therapy did not increase but rather slightly reduced the blood pressure in menopausal and postmenopausal hypertensive women. Therefore, hypertension itself should not be the contraindication against carefully managed hormone replacement therapy. The therapy is frequently used for preventing severe osteoporosis in spite of the disappointing cardiovascular results of the WHI and HERS trials. In the Joint National Committee 7 there are no special recommendations which would strictly prefer one or another antihypertensive agents in the pharmacological treatment of postmenopausal hypertension. However doctors are assisted in their individual therapeutical decisions by certain clinical and experimental findings which refer to higher sympathic activity, enhanced RAS influence and increased salt dependency in the pathomechanism of postmenopausal hypertension.]

Lege Artis Medicinae

SEPTEMBER 20, 2002

[”I am responsible for my health but irresponsible for my illness”]

SZÁNTÓ Zsuzsa, SUSÁNSZKY Éva, RÓZSA Sándor

[INTRODUCTION - The aim of our study was to examine lay beliefs about illness causation of age groups with similar health status. METHODS - In 1997, research was conducted among the adult population of Budapest (N=720), in order to examine their health status and illness explanations. Based on self-rated health, ages of the 40s and the 60s were considered as the age-thresholds of significant decline in health status. Thus, the study concentrated on the three age groups of people: under 40, between 40 and 60, over 60 years of age. The Health and Illness Scale of Stainton Rogers and Furnham was employed. For identifying the patterns of illness explanations, factor analysis (varimax method) was used. RESULTS AND CONCLUSION - 5 factors were found as the basic types of illness explanations: psychical condition, external environmental determinants, work and life style, health care, internal predetermination. Parallel to deterioration of health, dominant illness explanations are also changing: emphasis moves from work and life style to biological predetermination.]

Clinical Neuroscience

JULY 30, 2008

[BRAIN LATERALIZATION AND SEIZURE SEMIOLOGY: ICTAL CLINICAL LATERALIZING SIGNS]

HORVÁTH A. Réka, KALMÁR Zsuzsanna, FEHÉR Nóra, FOGARASI András, GYIMESI Csilla, JANSZKY József

[Clinical lateralizing signs are the phenomena which can unequivocally refer to the hemispheric onset of epileptic seizures. They can improve the localization of epileptogenic zone during presurgical evaluation, moreover, their presence can predict a success of surgical treatment. Primary sensory phenomena such as visual aura in one half of the field of vision or unilateral ictal somatosensory sensation always appear on the contralateral to the focus. Periictal unilateral headache, although it is an infrequent symptom, is usually an ipsilateral sign. Primary motor phenomena like epileptic clonic, tonic movements, the version of head ubiquitously appear contralateral to the epileptogenic zone. Very useful lateralization sign is the ictal hand-dystonia which lateralizes to the contralateral hemisphere in nearly 100%. The last clonus of the secondarily generalized tonic-clonic seizure lateralizes to the ipsilateral hemisphere in 85%. The fast component of ictal nystagmus appears in nearly 100% on the contralateral side of the epileptic focus. Vegetative symptoms during seizures arising from temporal lobe such as spitting, nausea, vomiting, urinary urge are typical for seizures originating from non-dominant (right) hemisphere. Ictal pallor and cold shivers are dominant hemispheric lateralization signs. Postictal unilateral nose wiping refers to the ipsilateral hemispheric focus compared to the wiping hand. Ictal or postictal aphasia refers to seizure arising from dominant hemisphere. Intelligable speech during complex partial seizures appears in non-dominant seizures. Automatism with preserved consciousness refers to the seizures of non-dominant temporal lobe.]

Clinical Neuroscience

DECEMBER 20, 2008

[Screening of hereditary neuromuscular disorders in the roma population living in Hungary]

HERCZEGFALVI Ágnes, PIKÓ Henriett, KARCAGI Veronika

[Recent medical genetic research has identified a number of novel, or previously known, but rare conditions, caused by private founder mutations. The Finnish and Ashkenazi Jew populations provide the best examples for identifying genes in unique genetic disorders. In these populations, research efforts and high-level medical services resulted in intense improvements of medical care and in organization of population- based screening programs. Hereditary disorders of the Roma populations are known for a long time. The genetic background of these diseases has been established by extensive molecular genetic studies. The Romas represent 6% of the Hungarian population and live under extremely bad health conditions. Therefore, our aim was to map the incidence of the hereditary neuromuscular disorders among the Hungarian Roma population. Moreover, we intended to provide proper information, genetic counseling and possible prevention strategies for the families at risk, which should represent a primer task in public health. Because of our experience in neuromuscular disorders, we choose six, frequent, autosomal recessive disorders for these clinical and genetic studies: hereditary motor and sensory neuropathy type Lom (HMSNL), hereditary motor and sensory neuropathy type Russe (HMSNR), congenital cataracts facial dysmorphism syndrome (CCFDN), Limb- Girdle muscular dystrophy 2C (LGMD2C), congenital myasthenic syndrome (CMS) and spinal muscular atrophy (SMA). Following identification of the founder mutations, the possibility of prenatal diagnosis and carrier screening for family members will contribute to the decrease of the recurrence risk for these severe, mostly untreatable disorders.]

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.]