Diabetes as a risk factor for cerebral ischemic stroke

Udary mózgu stanowią jeden z najpoważniejszych problemów współczesnej medycyny. W większości przypadków udar jest konsekwencją miażdżycy, której głównymi czynnikami ryzyka są zaburzenia gospodarki węglowodanowej, nadciśnienie tętnicze, hiperglikemia oraz palenie tytoniu. U ponad 1/3 chorych z udarem mózgu rozpoznaje się cukrzycę, a u około 2/3 w początkowej fazie choroby stwierdza się hiperglikemię. Współistnienie cukrzycy i udaru mózgu pogarsza rokowanie. Cukrzyca podnosi ryzyko wystąpienia udaru mózgu, zmienia jego obraz kliniczny i wpływa na następstwa. Prowadzenie wielokierunkowych działań edukacyjnych wśród chorych na cukrzycę, obejmujących samokontrolę i samoleczenie cukrzycy oraz eliminację współistniejących, modyfikowalnych czynników ryzyka udaru niedokrwiennego mózgu, redukuje liczbę incydentów mózgowych. Endokrynologia, Otyłość i Zaburzenia Przemiany Materii 2010, tom 6, nr 2, 93-100Cerebral strokes are one of the most serious problems contemporary medicine has to face. In most cases, stroke is a result of atherosclerosis, whose main risk factors include disorders of carbohydrate metabolism, arterial hypertension, hyperglycemia and tobacco smoking. In over 1/3 of those suffering from cerebral stroke, diabetes is also diagnosed; in about 2/3 of the sufferers, hyperglycemia is found in the initial phase of the illness. The combination of diabetes and cerebral stroke influences prognosis in a negative way. Diabetes increases the risk of occurrence of cerebral stroke, changes its clinical picture and has an impact on its consequences. Many-sided educational activities conducted among diabetes patients, including self-control and self-treatment of diabetes, as well as elimination of coexisting modifiable risk factors for cerebral ischemic stroke, contributes to reducing the number of cerebral incidents. Endocrinology, Obesity and Metabolic Disorders 2010, vol. 6, No 2, 93-10

Excessive daytime sleepiness in a patient with coexisting myotonic dystrophy type 1, myasthenia gravis and Graves’ disease

A 41-year-old female with history of Graves’ disease, bilateral cataract, paroxysmal atrial fibrillation was admitted because of muscle weakness, daytime sleepiness, fatigability, drowsiness, bilateral eyelid ptosis, descending of head and lower jaw. On neurological examination the patient was presented with muscle weakness, muscle atrophy (in face and sternocleidomastoid muscles), features of myotonia and apocamnosis (orbicular muscles). Electromyography revealed myopathic changes, myotonic and pseudomyotonic discharges, positive repetitive nerve stimulation test in proximal muscles. Myotonic dystrophy (MD) diagnosis was confirmed by genetic testing and myasthenia gravis (MG) by a positive titer of cholinergic receptor autoantibodies. In the CSF concentration of hypocretin was significantly decreased

Zespół Susaca

Zespół Susaca to rzadko występująca waskulopatia obejmująca małe tętniczki prekapilarne mózgu, siatkówki i ucha wewnętrznego. Charakteryzuje się triadą objawów: encefalopatią, zaburzeniami widzenia z powodu niedrożności rozgałęzień tętnicy siatkówki oraz niedosłuchem czuciowo-nerwowym. W pracy przedstawiono przypadek pacjentki w wieku 29 lat, u której migrenopodobne bóle głowy poprzedziły wystąpienie postępujących zaburzeń poznawczych, objawów zespołu móżdżkowego oraz niedosłuchu. Wykonane badanie rezonansu magnetycznego głowy wykazało obecność licznych ognisk hiperintensywnych w istocie białej obu półkul mózgu, w części centralnej ciała modzelowatego oraz w strukturach tylnego dołu czaszki. W badaniu audiometrii tonalnej stwierdzono obustronny niedosłuch czuciowo-nerwowy. Angiografia fluoresceinowa początkowo nie wykazała nieprawidłowości, jednak powtórne badanie uwidoczniło niedrożność odgałęzień tętnicy środkowej siatkówki. Na podstawie obrazu klinicznego i uzyskanych wyników badań dodatkowych rozpoznano zespół Susaca. Zespół ten należy uwzględnić w diagnostyce różnicowej w wieloogniskowym uszkodzeniu ośrodkowego układu nerwowego. Wczesne rozpoznanie choroby oraz zastosowanie leczenia immunosupresyjnego znacznie łagodzi jej przebieg i poprawia rokowanie

Multiple sclerosis and autoimmune diseases — a case control study

Introduction. Multiple sclerosis (MS) is one of the most common autoimmune diseases worldwide, and various autoimmune comorbidities have been reported with MS. The aim of this study was to estimate the prevalence of autoimmune disease comorbidity in patients with MS and their relatives in a Polish population. Material and methods. In this retrospective multicentre study, we investigated a group of patients with MS, and their relatives, in terms of age, gender, and the presence of simultaneous autoimmune diseases such as Graves’s Disease, Hashimoto’s thyroiditis, type 1 diabetes mellitus, myasthenia gravis, psoriasis, ulcerative enteritis, Crohn’s Disease, coeliac disease, rheumatoid arthritis, autoimmune hepatitis and systemic lupus erythematous. Results. This study included 381 patients with MS, of whom 52.23% were women. 27 patients (7.09%) had at least one autoimmune disease. The most common comorbidity was Hashimoto’s thyroiditis (14 patients). 77 patients (21.45%) had relatives with an autoimmune disease, of which the most common was Hashimoto’s thyroiditis. Conclusions. Our study revealed that the probability of autoimmune diseases co-occurring in patients with MS, and in their relatives, is higher and we found the greatest risk to be for Hashimoto’s thyroiditis

Clinical and epidemiological characteristics of multiple sclerosis patients receiving disease-modifying treatment in Poland

Aim of study. The aim of this study was to collect and analyse data on relapsing-remitting multiple sclerosis (RRMS) patients receiving disease-modifying therapies (DMTs) in Poland.Material and methods. This observational, multicentre study with prospective data collection included RRMS patients receiving DMTs reimbursed by the National Health Fund (NFZ) in Poland, monitored by the Therapeutic Programme Monitoring System (SMPT). Demographic profiles, disability status, and treatment modalities were analysed.Results. Data from 11,632 RRMS patients was collected (from 15,368 new prescriptions), including 10,649 patients in the first-line and 983 in the second-line therapeutic programme of DMTs. The proportion of females to males was 2.39 in the first-line and 1.91 in the second-line. The mean age at DMTs start was 36.6 years in the first-line and 35.1 in the second-line. The median time from the first symptoms to MS diagnosis was 7.4 months, and from MS diagnosis to treatment it was 18.48 months. A total of 43.4% of MS patients started DMT during the 12 months following diagnosis. There was a positive correlation between the duration from MS diagnosis to the start of DMT and a higher initial EDSS value [correlation 0.296 (p < 0.001)]. About 10% of patients stopped DMTs. In Poland, about one third of all MS patients are treated in both lines, and the choice of first-line treatment depends on the region of the country.Conclusions. In Poland there is a need to increase MS patient access to DMTs by improving the organisation of drug programmes

Association between polymorphisms of a folate – homocysteine – methionine – SAM metabolising enzyme gene and multiple sclerosis in a Polish population

Background and Objectives. Multiple sclerosis (MS) is a chronic inflammatory, autoimmune disease with a still unknown aetiology. The main initial mechanism of demyelination and injury to the central nervous system (CNS) appears to be inflammation. Neurotoxicity induced by homocysteine (Hcy) may be a factor affecting this process. 5,10-methylenetetrahydrofolate reductase (MTHFR) is an essential enzyme involved in Hcy metabolism. It leads to Hcy remethylation to methionine. In the present study, we aimed to investigate a possible association between two variants of MTHFR gene in patients with MS in Poland and healthy individuals.Methods. In this study, we genotyped 174 relapsing-remitting MS patients and 186 healthy controls using the TaqMan technique.Results and Conclusions. It was found that, regardless of the presence of a specific allele, the gender of MS patients affects age at the time of the clinical onset of the disease: in rs1801133 for the C allele and T, the average age was 35 years for women and 29 for men (p = 0.0004; p = 0.034 respectively). Similarly for the second polymorphism rs1801131 for the A allele and C, the average age was 35 years for women and 29 for men (p = 0.001; p = 0.01 respectively). No significant allelic / genotypic frequency differences have been observed between the studied groups (c.677C > T, CT/TT p = 0.719, p = 0.262; c.1298A > C, AC/CC of p = 0.686; p = 0.66). We found no association between polymorphisms of a folate-homocysteine-methionine-SAM metabolising gene enzyme and multiple sclerosis in a Polish population