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Hypertension and nephrology

SEPTEMBER 30, 2020

[Association between cyclothymic affective temperament and hypertension]

NEMCSIK János, BATTA Dóra, KŐRÖSI Beáta, RIHMER Zoltán

[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.]

Hypertension and nephrology

DECEMBER 12, 2019

[Predictive factors for ischemic heart disease, diabetes mellitus and chronic kidney disease among hypertensive patients based on the data of the Hungarian Hypertension Registry 2011-2013-2015. Part I. Hypertensive population aged 35 to 64 years]

KÉKES Ede, PAKSY András, SZEGEDI János, JÁRAI Zoltán

[The association of hypertension with ischemic heart disease, diabetes and chronic kidney disease is the greatest therapeutic challenge because these associations significantly increase mortality and deteriorate life expectancy. It is important for the clinician to clarify the predictive factors of each association for successful prevention or slowing the progression of diseases. According to the database of the Hungarian Hypertension Registry 2011-2013-2015, 11,137 men and 11,112 women with hypertension and comorbidities (CHD, diabetes, CKD) aged between 35 and 64 were analyzed for the purpose of assessing the predictive value of the traditional risk factors in co-morbidity. We analyzed the predictive weight of each variable with single- and multi-variable stepwise logistic regression, and reported Odds ratio (OR, odds ratio). In patients with hypertension aged 35-64 (male / female), the prevalence of CHD was 41.6% / 35.8%, diabetes 27.1% / 23% and KVB 16.2% / 33.8%, respectively. The chance of developing CHD is highest in hypertensive individuals (male/female) who have diabetes (OR 1.30/1.48), who are obese (OR 1.22/1.21), who smoke (OR 1.50/1.51), and whose blood pressure >140/90 mmHg (OR 1.23/1.29). The dominant predictive factors of type 2 diabetes are obesity (visceral obesity) (OR 1.46/1.49), low HDL cholesterol (OR 1.32/1.35), and high triglyceride levels (OR 1.20/1.42); in women the uric acid level also showed high odds ratio (OR 1.39). There is a significant chance of developing chronic kidney disease in hypertension in both sexes, if abnormal uric acid levels (OR 1.73/1.46) and inadequate treatment of high blood pressure (>140Hgmm SBP) (OR 1.43/1.19) are present. In women, the abnormal triglyceride level) also showed a high odd (OR 1.81).]

Clinical Neuroscience

SEPTEMBER 30, 2019

Coexistence of cervical vertebral scalloping, pedicle deficiencies and dural ectasia in type I neurofibromatosis

YALDIZ Mahizer

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.

Lege Artis Medicinae

MARCH 20, 2019

[Physiological-pathological muscle atrophy in elderly - interventions potencially inhibiting this progressive process ]

SZÉKÁCS Béla, MOLNÁR Andrea, BESENYEI Attila, MARTONY Zsuzsanna

[In old and very old age, one of the most prevalent signs of aged body’s decline is the progressive loss of muscle mass and function. First itself the physiological aging process can be dominant in the complex causative background but later it is usually intertwined with pathological mechanisms. The importance of muscle system is extremely high in the physiological regulation of various vital life processes The paper also points out the far-reaching consequences of sarcopenia syndrome that leads to general weakness, falls, traumas, acceleration of co-morbidities, rapidly declining self independence, ultimately frailty syndrome, and death. The initial body mass index has been recently replaced by a more adequate, more complex diagnostic approachment of sarcopenia that evaluates both muscle mass/strength and physical performance. Prevention or breaking the process of sarcopenia needs complex intervention which includes special fast protein rich diet with leucin and vitamin D combined with frequent physical exercise. ]

Clinical Neuroscience

JANUARY 30, 2019

Is isolated hand weakness associated with subtypes of stroke?

YILDIRIM Ahmet, GÜNGEN Dogan Belma

Background and aim - Isolated hand weakness is an uncommon condition in stroke patients. It is frequently confused with peripheral nerve system (PNS) pathologies; misdiagnosis may delay identification of the etiology and treatment of stroke. Herein, we aimed to underline the necessity of keeping the diagnosis of stroke in mind in case of patients with isolated hand weakness and to assess the etiology of stroke. Materials and methods - A total of eight patients (four females and four males), who are presented with isolated hand weakness and had acute cortical infarction documented via cranial MRI, were enrolled in the study. Demographic characteristics, physical and radiological findings of the patients, as well as the lateralization and etiology of infarction were evaluated. Results - The mean age of the patients was 61.8 ± 12 years. Isolated hand weakness was in the dominant hand in four patients. According to the etiology and clinical signs, the stroke was cardioembolic in three patients and they had predominant radial-side (thumb and index) finger weakness. Large vessel atherosclerosis was present in three patients; two patients with predominant ulnar-side (little and ring) finger weakness and one patient with uniform finger weakness; there were two patients with stroke of undetermined etiology and they had uniform finger weakness. Conclusion - Keeping stroke in mind together with PNS pathologies in case of isolated hand weakness is critical for early diagnosis and treatment of the patients. In addition, cardioembolic focus should be considered in case of predominant radial-side finger weakness, whereas particular attention should be paid to carotid artery diseases in case of predominant ulnar-side finger weakness.

Clinical Neuroscience

JANUARY 30, 2019

[Multiple ischemic stroke in Osler-Rendu-Weber disease]

SALAMON András, FARAGÓ Péter, NÉMETH Viola Luca, SZÉPFALUSI Noémi, HORVÁTH Emese, VASS Andrea, BERECZKY Zsuzsanna, TAJTI János, VÉCSEI László, KLIVÉNYI Péter, ZÁDORI Dénes

[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.]

Hypertension and nephrology

DECEMBER 10, 2018

[PAX2: lotium et visus sine pace]

VIOLETTA Antal, KERTI Andrea, JÁVORSZKY Eszter, MÁTTYUS István, REUSZ György, SZABÓ Attila, VÁRKONYI Ildikó, MAKA Erika, TORY Kálmán

[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.]

Clinical Neuroscience

MARCH 30, 2017

Surveillance and management of patients with tuberous sclerosis complex

FOGARASI András, GYORSOK Zsuzsanna, BODÓ Tímea

Tuberous sclerosis complex (TSC) is an autosomal dominant disease due to the uncontrolled differentiation, proliferation, and migration of cells in several organs. Clinical expression is highly variable, from mild skin findings and asymptomatic brain lesions to seizures, mental retardation, autism, and potentially fatal kidney, cardiac, or pulmonary disease. Aim of this paper is to summarize the diagnostic criteria, surveillance and therapeutic issues of this multisystemic disorder emphasizing the most important neurological consequences. Presenting the state-of-the-art management recommendations and comparing them with the local protocols, we hope that our review might help in the proper assessment of one of the most important single gene disorder.

Lege Artis Medicinae

DECEMBER 18, 2016

[The role of the family physician in the preparation for liver transplantation in Wilson’s disease]

FARKAS Anett, KALABAY László, MÁTHÉ Zoltán, MÁRKUS Bernadett, SZALAY Ferenc, VÖRÖS Krisztián, TORZSA Péter

[Wilson’s disease is an autosomal recessive disease with toxic copper accumulation caused by the mutation of the ATP7B gene in chromosome 13. The estimated prevalence of the disease is 2-3 / 100000. Early diagnosis is important because the treatment may stop the progression and could result regression or it can prevent the clinical manifestation of the disease. In our case study we describe how difficult could be to diagnose the disease, the role of the family physician in the preparation for liver transplantation and in the follow-up care. This case is an example demonstrating that Wilson's disease is often diagnosed only years after the appearance of the first symptom. We review the most important literature data on Wilson’s disease. ]

Clinical Neuroscience

JULY 30, 2016

[Meningioma and pregnancy]

BENCZE János, VARKOLY Gréta, HORTOBÁGYI Tibor

[Meningiomas are one of the most frequent primary intracranial tumours, representing one-third of all intracranialneoplasms. The vast majority of meningiomas are histologically benign, but recurrence and progression is quite frequent. They occur usually between the 6th and 7th decade, the female/male ratio is 3:2. Although rare in pregnancy, when occurring, they can cause serious, life-threatening complications due to rapid growth and unfavourable localisation. There are two dominant hypothesis explaining rapid growth in pregnancy: the role of hormonal effects and hemodynamic changes. Several studies tested these theories but none provided unequivocal answer probably because the pathomechanism is complex and multifactorial. We provide an overview of the pathomechanism of meningiomas in pregnancy with emphasis on data obtained by advanced neuropathological, molecular biological, bioinformatic, imaging and epidemiological methods. A better understanding of the processes leading to meningioma development and growth in pregnancy will help us to design personalized therapy and reduce morbidity and mortality.]