Lege Artis Medicinae

[Javier Marías – in the Network of Crosstalks Celebrating a Double Birthday ]

LENGYEL Dávid

APRIL 20, 2016

Lege Artis Medicinae - 2016;26(04)

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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

[Tension type headache and its treatment possibilities]

ERTSEY Csaba, MAGYAR Máté, GYÜRE Tamás, BALOGH Eszter, BOZSIK György

[Tension type headache, the most common type of primary headaches, affects approximately 80% of the population. Mainly because of its high prevalence, the socio-economic consequences of tension type headache are significant. The pain in tension type headache is usually bilateral, mild to moderate, is of a pressing or tightening quality, and is not accompanied by other symptoms. Patients with frequent or daily occurrence of tension type headache may experience significant distress because of the condition. The two main therapeutic avenues of tension type headache are acute and prophylactic treatment. Simple or combined analgesics are the mainstay of acute treatment. Prophylactic treatment is needed in case of attacks that are frequent and/or difficult to treat. The first drugs of choice as preventatives of tension type headache are tricyclic antidepressants, with a special focus on amitriptyline, the efficacy of which having been documented in multiple double-blind, placebo-controlled studies. Among other antidepressants, the efficacy of mirtazapine and venlafaxine has been documented. There is weaker evidence about the efficacy of gabapentine, topiramate, and tizanidin. Non-pharmacological prophylactic methods of tension type headache with a documented efficacy include certain types of psychotherapy and acupuncture. ]

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[Interrelations of social phobia, trait anxiety, perfectionism and psychological protective factors in a young female population: Cluster analysis]

DOBOS Bianka, PIKÓ Bettina

[Deterioration of social functions and quality of life and lower level of satisfaction with life are often joining to axiety disorders. Considering the higher prevalence rates across anxiety disorders for women, the aim of this study was to examine the relationship of social phobia with trait anxiety, perfectionism, use of pharmaceuticals, self-efficacy and life satisfaction in a group of young female participants. Online, self-administered questionnaire was used as a method of data collection at different social network sites. The sample consisted of young women aged between 14–35 years (N = 435, M = 27.3 years; SD = 5.9). The questionnaire con­tained items of socio-demographic variables, use of pharmaceuticals as well as mental background variables (Social Pho­bia In­ventory, State-Trait Anxiety In­ven­tory, Mul­ti­dimensional Perfectionism Scale, Ge­neral Perceived Self-Efficacy Scale, Sa­tis­faction with Life Scale). Besides correlation analysis, cluster analysis was conducted. rait anxiety shows strong correlation with social phobia, perfectionism and use of pharmaceuticals. After examining all variables three clusters were emerging: 1) high level of trait anxiety with social phobia, moderate perfectionism, low levels of self-effcacy and satisfaction with life; 2) trait anxiety below the average without social phobia, high self-efficacy and satisfaction with life; 3) trait anxiety above the average with moderate phobia, high perfectionism with high self-efficacy and moderate life satisfaction. Results of our study show that social phobia strongly interrelates not only with trait anxiety as a stable part of personality but with self-estimated lower well-being and lack of mental protective factors. ]

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[Hypertension, COPD and COVID-19. Focus on antihypertensive therapy]

FARSANG Csaba

[Chronic obstructive pulmonary disease is a very common comorbidity of hypertension and it is often unrecognised by physicians. The factors involved in the pathomechanism of both diseases should be realised when choosing treatment. Among factors, hypoxia, increased tone of sympathetic nervous system and activation of renin-angiotensin-aldosterone system should primarily be considered. Vascular wall damage and endothelial dysfunction has an important role in both conditions. The goals of treatment are elimination of risk factors, optimizing the blood pressure, the consequential prevention of cardio-cerebrovascular, renal and pulmonary damage; finally prolonging the patients’ life and improving their quality of life as well. Both hypertension and COPD significantly worsen the condition of COVID-19 patients since they increase the severity of the disease and the rate of in-patients’ and their mortality. In the treatment of hypertension among COPD and COVID-19 patients there must be emphasized the medication inhibiting of renin-angiotensin-aldosterone system, such as angiotensin-converting en­zyme inhibitors or angiotensin-II AT1 re­cep­tor antagonists. Special attention concerned the beneficial effect of mineralocorticoid receptor antagonist spironolactone. Other antihypertensive drugs (calcium channel blockers, thiazide-like diu­retics, high selectivity β1 receptor antagonists) may supplement the treatment if necessary. Long-acting β2 receptor agonists, muscarinic receptor antagonists and inhalation corticosteroids may be administered in double or triple combination also in hypertension and COPD as well. It is important to note, that statin therapy and also vitamin D3 improve the condition of COVID-19 patients.]

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[Practical aspects of anticoagulant treatment during the COVID-19 pandemic]

KOMÓCSI András

[Coronavirus infection has a multiple im­pact on the coagulation system and anti­coagulant therapies. Patients admitted with COVID-19 have un­usually high incidence of coagulation ab­normalities. The incidence of atrial fibrillation (AF) seems also to be more frequent among COVID-19 out- and especially in-patients. Among COVID-19 patients receiving oral anticoagulant therapy, for minimizing the risk of bleeding or thromboembolic complications there should also be considered the renal and hepatic functions and drug-drug interactions of oral anticoagulant and COVID-19 therapy. In case of direct anticoagulants, in addition to the benefits of better safety, more favorable treatment ad­he­rence, and fixed dosing, the use of this class of drugs does not require laboratory mo­nitoring of efficacy, which may be of exp­licit benefit in terms of social distancing and health network burdens. This study reviews the possible interactions of drugs used for viral infection and anticoagulation, and in addition to the issues of coagulopathy associated with COVID-19, we discuss also the concerning difficulties of continued anticoagulant therapy related to the social distancing measures.]