RESUMEN
OBJECTIVES: The aim of this cross-sectional study was to examine the correlation between gestational age and number of previous pregnancies in group of pregnant women with restless legs syndrome and the connection of restless legs syndrome with family history positive versus family history negative group of pregnant and non-pregnant women. METHODS: Four hundred and sixty-two women were involved in this study: 231 pregnant women and the same number of non-pregnant women of compatible age as a control group. We defined restless legs syndrome as presence of International Restless Legs Syndrome Study Group criteria. During the face-to-face interview with the researcher, respondents answered questions about duration of pregnancy, number of previous pregnancies and family history of restless legs syndrome. RESULTS: Before the 16th week of pregnancy, restless legs syndrome appeared in 7.1% of pregnant women and after 16 weeks of pregnancy in 22.6% of them (t = 2.07, p = 0.039). Restless legs syndrome appeared in 11.4% of pregnant women without restless legs syndrome in the family and in 74.2% of pregnant women who did have restless legs syndrome in the family (t = 7.67, p < 0.001). It was also found that among non-pregnant women with a family history of restless legs syndrome, 42.9% had restless legs syndrome, and among those without a family history of restless legs syndrome, only 4.9% had restless legs syndrome (t = 3.49, p = 0.001). No statistically significant correlation between restless legs syndrome and number of previous pregnancies in pregnant women has been found. CONCLUSION: Our study confirmed a higher frequency of restless legs syndrome in women pregnant for 17 or more weeks and in both pregnant and non-pregnant women with a positive family history of this syndrome. We have not proven a connection between restless legs syndrome and multiparity.
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Síndrome de las Piernas Inquietas , Estudios Transversales , Femenino , Humanos , Paridad , Embarazo , Síndrome de las Piernas Inquietas/epidemiologíaRESUMEN
A tic is a sudden, rapid, recurrent, nonrhythmic motor movement or vocalization. Motor and phonic tics in a course of over 1 year that first occured before 18 years are the main features of Gilles de la Tourette syndrome (GTS). Psychogenic/functional (P/F) tics were considered as a diagnosis made per exlusionem in lack of agreement of diagnostic criteria. Recently, emphasis is in rather highlighting positive signs when making diagnosis of P/F tics. Several features in clinical course are important to differentiate GTS from P/F tics. Some of them are acute onset in adulthood, precipitation by physical event, absent family history of tics, variable, complex and inconsistent phenomenology, suggestibiity, distractibility. Premonitory urge, feeling of excessive energy and being 'wound up' prior tic, is a usual feature of GTS unlike in P/F tics. If present, such premonitory urge have different qualitative and quantitative marks. Another possible diagnostics tool could be the beireitshaftspotential, an event-related electrical potential associated to initiation of movement which is divided in two phases, early (B1) and late (B2) phase. Early phase, whose occurence in some papers has been reported prior P/F tics, is absent prior performed tic in GTS. In everyday clinical practice differentiating GTS from P/F tics is often very challenging but taking proper medical history, paying more attention to positive signs and possibly using electroneurophysiology tests could contribute in making the right diagnosis.
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Tics , Síndrome de Tourette , Humanos , Agitación PsicomotoraRESUMEN
AIMS: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism, characterized by its accumulation in tissues which results in hepatic, neurological, and/or psychiatric symptoms. The aim of this study was to investigate the genetics of WD in Croatian patients. METHODS: Correlation of the clinical presentation subtype and the age at onset of the diagnosis of WD with the ATP7B genotype was investigated in a group of Croatian WD patients. DNA from peripheral blood samples was tested for the p.His1069Gln by direct mutational analysis and other polymorphisms were identified by sequence analysis of coding and flanking intronic regions of ATP7B gene. RESULTS: In the group of 75 WD patients of Croatian origin, 18 different mutations in ATP7B gene were detected, three of which were novel. The p.His1069Gln mutation was most frequent, being detected in 44 Croatian WD patients (58.7%). Most ATP7B mutations (90.4%) were located in exons 5, 8, 13, 14, and 15. CONCLUSIONS: Clinical diagnosis of WD was confirmed in 59 patients by detecting mutations on both ATP7B alleles. The age at onset of WD and the type of WD clinical presentation showed no significant correlation with the ATP7B genotype.
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Adenosina Trifosfatasas/genética , Proteínas de Transporte de Catión/genética , Degeneración Hepatolenticular/genética , Adenosina Trifosfatasas/sangre , Adulto , Alelos , Proteínas de Transporte de Catión/sangre , ATPasas Transportadoras de Cobre , Croacia , Análisis Mutacional de ADN , Exones , Femenino , Estudios de Asociación Genética , Degeneración Hepatolenticular/enzimología , Humanos , Masculino , Persona de Mediana Edad , Mutación , Polimorfismo Genético , Polimorfismo de Longitud del Fragmento de RestricciónRESUMEN
Spinal arteriovenous malformations (AVM) have been devided into dural (Type I), intramedullary glomus (Type II), juvenile (Type III), and perimedullary direct arteriovenous fistulae (Type IV). AVMs are usually associated with subacute myelopathy in what has been known as Foix-Alajouanine syndrome. We presented two patients with two intradural spinal arteriovenous malformations associated in what we call Foix-Alajouanine syndrome. The both patient developed acute back pain and paresthesias, followed by paraplegia and incontinence. The clinical status of one patient has been improved after particle embolization for a 17 years when he deteriorated up to paraplegia after spinal angiography for follow up. Clinical status in another patient deteriorated, because particle emoblisation cannot be performed due to very descrete presentation of the feeding artery. Extensive neuroradiological examination in both patients revealed coexistence of numerous associated developmental anomalies in both patients. We conclude that arteriovenous malformations occasionally are associated with other vascular and nonvascular developmental anomalies elsewhere in the body. These findings rise attention about keep in mind the suspicion of mutual etiopathogenesis and congenital origin of these anomalies. Early timing of the diagnostic and therapeutic interventiosn are stressed to prevent or delay irreversible ishaemic myellopathy or haemorrhage. For the definitive diagnosis of spinal arteriovenous malformations and evaluation of its occlusion grade after the therapy spinal angiography is needed
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Malformaciones Arteriovenosas/complicaciones , Malformaciones Vasculares del Sistema Nervioso Central/complicaciones , Enfermedades Vasculares de la Médula Espinal/complicaciones , Adulto , Angiografía de Substracción Digital , Femenino , Humanos , Masculino , Persona de Mediana Edad , Columna Vertebral/irrigación sanguínea , Columna Vertebral/diagnóstico por imagen , SíndromeRESUMEN
Various combinations of vascular malformations of the brain in one lesion have been reported, while others seem to be very rare. In this report, the authors discuss the case of a coexistence of an capillary telangiectasia of the pons and intracerebral venous anomaly. To our knowledge, this is the first report of coexistence of a capillary telangiectasia of the pons and intracerebral venous anomaly apparted from each other. These discrete vascular malformations of the brain raise attention on possible interrelations in the pathogenesis of these entities. We report a case of pontine capillary telangiectasia and intracerebral venous anomaly in a 42-year-old woman with a right side facial palsy. Hight field magnetic resonance imaging suggested presence of a capillary telangiectasia of the pons. Another lesion in the left frontal gyrus was attributable to the venous anomaly. Along with neuroradiological findings, results of the somatosensor evoked potentials, brain stem auditory potentials, laboratory analysis including blood, cerebrospinal fluid and urine investigation are demonstrated. Awareness of the magnetic resonance imaging finding of the capillary telangiectasias and of the venous anomalies may help in defining clinical correlates of this vascular malformations, while the follow up of these malformations might help to asses risk of vascular rupture. We and others previously selects capillary telangiectasia and venous anomaly in two discrete entities. Coexistence of these malformations in the brain apparted from each other appear to be very rare and raise attention on possible interactions in their natural history and pathogenesis.
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Malformaciones Vasculares del Sistema Nervioso Central/complicaciones , Puente/irrigación sanguínea , Adulto , Anciano , Angiografía Cerebral , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Puente/patologíaRESUMEN
Tremor is the commonest hyperkinesia in humans, often very impressive in its manifestation not only for patients and their families but also for physicians themselves. As a variety of etiological factors, diseases, conditions and substances that can cause it, this clinical entity is a recurrent differential diagnostic problem, that sometimes, unfortunately, results in diagnostic and therapeutic failures. Relative therapeutic resistance of some types of tremor, along with ineffective treatment and frequent iatrogenic potential, makes an additional problem in everyday clinical practice. Thus, there is a need for understanding and further research of the patophysiology of tremor occurrence, and continuous investigation of new medications and other therapeutic procedures. Knowledge of differential diagnostic and therapeutic guidelines for this disorder, however, gives a contribution to solving the problems almost daily encountered by specialists in various fields, but particularly family doctors. The paper presents diagnostic criteria for various types of physiological and pathological tremor, their classification, clinical and electrophysiological methods of evaluation, as well as the most recent therapeutic guidelines.
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Temblor/diagnóstico , Humanos , Temblor/clasificación , Temblor/etiologíaRESUMEN
Uremia-related restless legs syndrome (RLS) is a known form of secondary RLS. This cross-sectional survey included patients (n = 82) on stable hemodialysis (HD; >3 months, Kt/V >1.2) who were iron-replete, free of neurodegenerative or psychiatric disorders, severe polyneuropathy and radiculopathy, not exposed to antipsychotics/antidepressants, and not severely anemic. Forty-nine (60%) were RLS 'positive', and 25 (31%) had severe/very severe symptoms (International Restless Legs Syndrome Study Group criteria). None had been diagnosed previously. In a multivariate analysis, the prevalence of RLS was higher in diabetic patients [vs. nondiabetics; prevalence ratio (PR) 2.32, 95% CI 1.50-3.60, p < 0.001] and those exposed to Ca2+ antagonists (vs. nonexposed; PR 2.02, CI 1.47-2.76, p < 0.001), and also increased with dialysis duration (PR 1.05, 95% CI 1.02-1.09, p < 0.001). Association of Ca2+ antagonists and RLS in uremic patients has not been reported previously and deserves further research.
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Amlodipino/uso terapéutico , Bloqueadores de los Canales de Calcio/uso terapéutico , Nifedipino/uso terapéutico , Diálisis Renal , Síndrome de las Piernas Inquietas/tratamiento farmacológico , Síndrome de las Piernas Inquietas/epidemiología , Anciano , Estudios Transversales , Femenino , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Estudios RetrospectivosRESUMEN
Psychotic conditions of iatrogenic nature form a non-negligible portion of psychiatric practice. In this paper we present a case of a 62-year-old patient with the primary diagnosis of autoimmune hepatitis-induced cirrhosis who following the orthotopic liver transplantation developed an episode of depressive psychosis. The appearance of symptoms and signs directly correlated with the administration of the maximal dose of cyclosporine. The dose was upwardly titrated because the laboratory results (an increase in transaminase level) had indicated the transplant rejection. Because psychiatric and neurological examinations prior to the episode showed no abnormalities, other plausible causative factors such as the level of cholesterol and magnesium and the concomitant therapy were also analysed. In contrast to the more frequent cyclosporine-induced delirium, cyclosporine-induced depressive psychosis has been rarely reported in the literature.
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Ciclosporina/efectos adversos , Trastorno Depresivo/inducido químicamente , Inmunosupresores/efectos adversos , Trasplante de Hígado , Femenino , Humanos , Persona de Mediana EdadRESUMEN
The aim of study was to analyze epidemiological features of central nervous system (CNS) tumors diagnosed in Istria County, Croatia, with a particular emphasis on incidence dynamics during the wartime (1991-1995). The data were extracted from the medical records of patients with CNS tumors admitted to the Department of Neurology of Pula General Hospital in the period from the 1st January 1986 to the 31st December 2000, N = 364. For calculation of rates, we used data from the 2001 Croatian consensus http://www.dzs.hr/Eng/Census/census2001.htm. Data are presented as counts and incidence rates (IRs) per 100,000 persons-years in the case of annual rates. Annual incidence rates are shown as "raw" incidence rates and smoothed 5-year rolling average rates. The examined patient-related variables were: sex, age, occupation, premorbidity and comorbidity, with a particular emphasis on psychosomatic disorders and negative habits. The analyzed tumor-related variables included clinical manifestation, localization, and applied diagnostic and therapeutic methods. Primary tumors were separated from the metastatic, and the latter were analysed with respect to their site of origin. The lowest incidence of CNS tumors (10 patients) was reported in 1990, and the highest (42 patients) in 1993. The incidence dynamics of CNS tumors showed a rapidly progressive increase over the 1991-1995 period, followed by the return to average values. The access to a better and more readily available diagnostics may only partially explain this phenomenon. Therefore, we analyzed other factors that may have contributed towards the rapid increase in the number of CNS tumors, such as its coincidence with the war or psychotrauma. The results confirm the observational clinical hypothesis of an extreme increase in the number of CNS tumors during the period under consideration.
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Neoplasias del Sistema Nervioso Central/etiología , Guerra , Adolescente , Adulto , Distribución por Edad , Anciano , Neoplasias del Sistema Nervioso Central/secundario , Neoplasias del Sistema Nervioso Central/terapia , Terapia Combinada , Croacia/epidemiología , Femenino , Humanos , Incidencia , Masculino , Registros Médicos , Persona de Mediana Edad , Estudios Retrospectivos , Distribución por SexoRESUMEN
Despite the controversy regarding specific mechanism of botulinum toxin action in pain relief, clinical results suggest that botulinum toxin type A may be promising treatment options for patients with primary chronic headache. To investigate this, we included sixteen patients with chronic tension-type headache in a prospective double blind, placebo-controlled crossover study and thirty patients in an open-label long-term study. All of the patients showed reduced severity of headache, reduced pericranial muscle tenderness and increased headache-free days during botulinum toxin A treatment. Moreover, constant and cumulative trend of improvement was present during long-term study indicating better quality of life during botulinum toxin treatment. There is need for further placebo-controlled clinical studies to identify the optimal dose, optimal number and place of injection sites as well as optimal injection techniques.