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Search for the word below: autosomal dominant disorder
Number of hits: 56
MARCH 30, 2021
[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.]
JANUARY 30, 2021
Autism spectrum disorder is a neurodevelopmental disorder with a heterogeneous presentation, the etiology of which is not clearly elucidated. In recent years, comorbidity has become more evident with the increase in the frequency of autism and diagnostic possibilities of inborn errors of metabolism. One hundred and seventy-nine patients with diagnosis of autism spectrum disorder who presented to the Pediatric Metabolism outpatient clinic between 01/September/2018-29/February/2020 constituted the study population. The personal information, routine and specific metabolic tests of the patients were analyzed retrospectively. Out of the 3261 patients who presented to our outpatient clinic, 179 (5.48%) were diagnosed with autism spectrum disorder and were included in the study. As a result of specific metabolic examinations performed, 6 (3.3%) patients were diagnosed with inborn errors of metabolism. Two of our patients were diagnosed with classical phenylketonuria, two with classical homocystinuria, one with mucopolysaccharidosis type 3D (Sanfilippo syndrome) and one with 3-methylchrotonyl Co-A carboxylase deficiency. Inborn errors of metabolism may rarely present with autism spectrum disorder symptoms. Careful evaluation of the history, physical examination and additional findings in patients diagnosed with autism spectrum disorder will guide the clinician in the decision-making process and chose the appropriate specific metabolic investigation. An underlying inborn errors of metabolism may be a treatable cause of autism.
SEPTEMBER 30, 2019
Neurofibromatosis type 1 (NF-1; also known as Von Recklinghausen’s disease) is a common autosomal dominant disease that occurs in the general population at the rate of 1 in 3000. Many NF-1 patients present with spinal malformations. A 54-year-old female patient was admitted to the Outpatient Clinic of Dermatology with gradually increasing swelling and spots on the body that had been present for a long period of time. Cervical vertebral scalloping, pedicle deficiencies and dural ectasia (DE) were also detected. She was diagnosed with NF-1. NF-1 is routinely seen in dermatology practice. Coexistence of NF-1 with vertebral scalloping, pedicle deficiencies and DE rarely occurs. Our case is the second reported instance in the literature of NF-1 with a spinal anomaly in the cervical region, and the first reported instance of the coexistence of NF-1 with cervical vertebral scalloping, pedicle deficiencies and DE.
Hypertension and nephrology
DECEMBER 10, 2018
[The autosomal dominant papillorenal syndrome results from primarily de novo mutations of PAX2. It encodes a transcription factor expressed in the kidney, urinary tract, nervous system, eye and the ear. Its haploinsufficiency causes primarily hypoplastic and hyperreflective kidney, or other forms of CAKUT. The clinical appearance may be dominated by nephrotic-range proteinuria with focal segmental glomerulosclerosis. The renal survival rate is highly variable: most of the recognized cases lead to ESRD during the first four decades of life. PAX2 mutations cause typical optic papillary alterations, most frequently papillary dysplasia. In contrast to the name of the syndrome, one fourth of the affected patients do not develop ocular involvement. Hearing impairment is associated in less than 10% of the patients. The affected members of the five families that we identified with PAX2 loss-of-function mutations, developed end-stage renal disease during the 2-4. decades of life.]
Lege Artis Medicinae
APRIL 01, 2000
[The basis for the diagnosis of irritable bowel syndrome is the evaluation of the patient's symptoms. The wide-ranging use of this diagnosis (irritable bowel syndrome, IBS) in the past was equivalent to the exclusion of different organic diseases. Today's use, as a „residual diagnosis" accompanies patients with severe clinical signs, psychiatric comorbidity and older age. Based on the Rome Consensus Criteria I and II, initiating the treatment based on dominant symptoms is an important part of the diagnosis. Diagnostic differentiation depend on the dominant symptoms, providing different strategies for cases having diarrhoea, obstipation or pain dominancy. ]
Hypertension and nephrology
SEPTEMBER 30, 2020
[Affective temperaments (cyclothymic, hypertymic, depressive, anxious, irritable) are stable parts of personality and after adolescent only their minor changes are detectable. Their connections with psychopathology is well-described; depressive temperament plays role in major depression, cyclothymic temperament in bipolar II disorder, while hyperthymic temperament in bipolar I disorder. Moreover, scientific data of the last decade suggest, that affective temperaments are also associated with somatic diseases. Cyclothymic temperament is supposed to have the closest connection with hypertension. The prevalence of hypertension is higher parallel with the presence of dominant cyclothymic affective temperament and in this condition the frequency of cardiovascular complications in hypertensive patients was also described to be higher. In chronic hypertensive patients cyclothymic temperament score is positively associated with systolic blood pressure and in women with the earlier development of hypertension. The background of these associations is probably based on the more prevalent presence of common risk factors (smoking, obesity, alcoholism) with more pronounced cyclothymic temperament. The scientific importance of the research of the associations of personality traits including affective temperaments with somatic disorders can help in the identification of higher risk patient subgroups.]
JULY 30, 2020
[The majority of patients with advanced Parkinson’s disease are treated at specialized movement disorder centers. Currently, there is no clear consensus on how to define the stages of Parkinson’s disease; the proportion of Parkinson’s patients with advanced Parkinson’s disease, the referral process, and the clinical features used to characterize advanced Parkinson’s disease are not well delineated. The primary objective of this observational study was to evaluate the proportion of Parkinson’s patients identified as advanced patients according to physician’s judgment in all participating movement disorder centers across the study. Here we evaluate the Hungarian subset of the participating patients. The study was conducted in a cross-sectional, non-interventional, multi-country, multi-center format in 18 countries. Data were collected during a single patient visit. Current Parkinson’s disease status was assessed with Unified Parkinson’s Disease Rating Scale (UPDRS) parts II, III, IV, and V (modified Hoehn and Yahr staging). Non-motor symptoms were assessed using the PD Non-motor Symptoms Scale (NMSS); quality of life was assessed with the PD 8-item Quality-of-Life Questionnaire (PDQ-8). Parkinson’s disease was classified as advanced versus non-advanced based on physician assessment and on questions developed by the Delphi method. Overall, 2627 patients with Parkinson’s disease from 126 sites were documented. In Hungary, 100 patients with Parkinson’s disease were documented in four movement disorder centers, and, according to the physician assessment, 50% of these patients had advanced Parkinson’s disease. Their mean scores showed significantly higher impairment in those with, versus without advanced Parkinson’s disease: UPDRS II (14.1 vs. 9.2), UPDRS IV Q32 (1.1 vs. 0.0) and Q39 (1.1 vs. 0.5), UPDRS V (2.8 vs. 2.0) and PDQ-8 (29.1 vs. 18.9). Physicians in Hungarian movement disorder centers assessed that half of the Parkinson’s patients had advanced disease, with worse motor and non-motor symptom severity and worse QoL than those without advanced Parkinson’s disease. Despite being classified as eligible for invasive/device-aided treatment, that treatment had not been initiated in 25% of these patients.]
NOVEMBER 30, 2018
Objective - Migraine is a common and often debilitating disorder. Although the existence of a link between migraine and certain psychological features has long been known, data on dissociative experiences in migraine patients is insufficient. The aim of this study was to evaluate the presence of psychoform and somatoform dissociative experiences among migraine patients without aura and to examine their relationship with pain perception and disability. Methods - A total of 110 outpatients diagnosed with migraine based on the International Classification of Headache Disorders-III (ICHD-III) criteria and 70 healthy subjects were enrolled to this study. Sociodemographic data, Somatoform Dissociation Questionnaire (SDQ), Dissociative Experience Scale (DES), Beck Depression Inventory (BDI), and Beck Anxiety Scale (BAS) scores were recorded for each patient. The Migraine Impairment Disability Assessment Scale (MIDAS) and Visual Analog Scale (VAS) scores were also determined. Results - The mean SDQ and DES scores were significantly higher in migraine patients (p<0.001, p<0.01). According to SDQ, somatoform dissociation disorder, dissociative disorder not otherwise specified, and dissociative identity disorder were considered in 29.4%, 18.3%, and 10.1% of the migraine patients, respectively. Also, 20.9% of the patients had possible psychoform dissociation according to DES. A significant positive correlation was found between DES, SDQ scores, and VAS, MIDAS scores. Patients were found to have statistically significantly higher levels of depression and anxiety symptoms compared to healthy controls (p < 0.001). Higher DES and SDQ scores were associated with increased disability and pain level (p<0.01). Conclusion - Our findings seem to confirm the increased occurrence of somatoform and psychoform dissociative experiences in migraine patients. This study was intended as a beginning towards understanding dissociative experiences in migraine.
MARCH 30, 2021
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.
JANUARY 30, 2019
[Hereditary hemorrhagic teleangiectasia (HHT, Osler-Rendu-Weber disease) is an autosomal dominantly inherited disorder caused by the mutation of several possible genes and characterized by malformations of the arteriovenous system in multiple organs. The clinical diagnosis is based on the Curaçao criteria ((1) spontaneous, recurrent epistaxis; (2) teleangiectasias in characteristic sites (lips, oral cavity, nose, fingers); (3) visceral lesions (gastrointestinal, pulmonary, cerebral, spinal); (4) affected first degree relative). The aim of this study is to present the first genetically confirmed Hungarian case of hereditary hemorrhagic teleangiectasia with multiple ischemic strokes. Our 70-year-old woman has been suffering from severe epistaxis since her childhood and presented gastrointestinal bleeding during her adulthood as well. The characteristic skin lesions developed in the 5th decade of life. She was admitted to our department with loss of consciousness and fluctuating speech and swallowing problems. MRI of the brain supplemented with angiography revealed multiple arteriovenous malformations and multiple subacute ischemic lesions. The EEG demonstrated slowing of electric activity in the left frontal lobe. The neuropsychological assessment showed deficits in anterograde memory and executive functions. The diagnostic work-up for other characteristic alterations identified an arteriovenous malformation in the left lung. The genetic analysis demonstrated a heterozygous mutation in the 7th exon of the ENG gene at position 834 resulting in a thymine duplication and an early stop codon by a frame shift. The present case is largely similar to those already described in literature and draws the attention to the importance of multidisciplinary collaboration in the care of HHT patients.]
Clinical NeuroscienceCases of inborn errors of metabolism diagnosed in children with autism
Clinical NeuroscienceLate carcinomatous meningitis as vertigo
Clinical Neuroscience[The role of sleep in the relational memory processes ]
Clinical NeuroscienceEvaluation of the effectiveness of transforaminal epidural steroid injection in far lateral lumbar disc herniations
Clinical NeuroscienceElectrophysiological investigation for autonomic dysfunction in patients with myasthenia gravis: A prospective study
Clinical Neuroscience[Lectures and presentations of scientific meetings]
Clinical Neuroscience[Multinucleated sympathetic ganglion cell in humans]
Clinical Neuroscience[Central nervous system and RES. I. Nervous system regulation of liver RES]
Clinical Neuroscience[Comparative histopathological study of polyneuritis of different aetiology]
Clinical Neuroscience[Lectures and presentations of scientific meetings]