A phenotypic-genetic study of a group of Polish patients with spinal and bulbar muscular atrophy.

We studied phenotype-genotype correlation in a group of Polish males with spinal and bulbar muscular atrophy (SBMA) and in female carriers. Eleven males with suspected SBMA phenotype and three suspected female carriers were examined. Male patients presented with the predominant signs of progressive, symmetrical distal limb weakness with amyotrophy, facial muscular weakness with orofacial fasciculations, nasal voice and slight dysphagia, gynaecomastia, decreased potency, as well as hand tremor and distal peripheral sensory disturbances in a few cases. One of the carriers presented with a 30-year history of fasciculations and minimal distal weakness and cramps in the legs, while the other two were asymptomatic. DNA analysis revealed expanded size of CAG repeats in Xq11-12 in the AR gene in 10 out of 11 men (range 45-52 CAG repeats) and in the women (range 46-48 CAG repeats). There was no correlation between CAG repeat size and the age of disease onset and duration of the disease. A rare, predominantly distal distribution of weakness and amyotrophy was found in our group of the SBMA patients (8 out of 11 cases) from three unrelated kindreds and also in the remaining two sporadic cases. The extended CAG repeats within families were stable.

Serum interleukin-6 soluble receptor in relation to interleukin-6 in stroke patients.

Cerebral ischemia triggers interleukin-6 (IL-6) release into blood. IL-6 is a key mediator of acute phase reaction. Markers of acute phase reaction (C-reactive protein, fibrinogen, fever) have been linked to poor prognosis in stroke patients. Interleukin-6 soluble receptor (sIL-6R) can potentiate IL-6 pro-inflammatory activity. The aim of this study was to investigate the relationship between IL-6 and sIL-6R in stroke patients. Serum cytokine levels were measured in 18 stroke patients and 13 controls using the ELISA method. On the second day of stroke, IL-6 levels were significantly higher in stroke patients than in controls; sIL-6R levels did not differ significantly between groups. Three months after stroke, IL-6 levels did not differ significantly between groups; sIL-6R levels were significantly decreased in stroke patients when compared with that in controls and with levels in acute phase of stroke. Decreased sIL-6R early after stroke might reflect a regulatory mechanism attenuating inflammatory response.

[Diagnosis and assessment of diabetic nephropathy. Literature review and author's observations]. / Metody rozpoznawania i oceny neuropatii cukrzycowej. Przeglad pismiennictwa oraz doswiadczenia wlasne.

Neuropathy, one of the most common diabetes complications, is characterized by highly variable clinical picture. It is not established what evaluation scheme should be applied in the assessment of patient regarding diabetic neuropathy. The validity of various laboratory tests in the diagnosis of diabetic neuropathy also remains unclear. This paper describes different clinical manifestations of diabetic neuropathy and presents the most important methods of assessment of patients with neuropathy suspected based on literature data and authors' observations. Authors highlighted the implications of different methods in diagnostic process. The most valid methods include physical evaluation, determination of vibration sensation and assessment of nerve conduction velocity. The autonomic functions tests have a special role allowing for the diagnosis of autonomic neuropathy.

[Carpal tunnel syndrome]. / Zespól ciesni nadgarstka.

The name of Carpal Tunnel Syndrome (CTS) refers to a complex of symptoms resulting from the pressure exerted on the median nerve in the carpal tunnel area [81]. In most cases, it is not possible to establish CTS causes, and we diagnose idiopathic CTS. CTS is the most frequent pressure neuropathy. Typical clinical symptoms include sensory effects in the forms of pain paresthesia or hypesthesia, limited to the wrist area innervated by the median nerve, presence if Tinel's symptoms, or a positive Phalen's test. In more advance cases, doctors find motor symptoms displayed by difficulties in the performance of precise activities, grasp weakness or thenar muscle atrophy. In some patients, we observe autonomous symptoms, e.g. skin perspiration disorders (dry skin on thumb, index and middle fingers), or vasomotor disorders. The most essential for diagnosis confirmation are electrophysiological examinations, which evaluate the median nerve functions. Sometimes, imaging techniques are useful, e.g. ultrasound, MRI and CTS scanning of the wrist. The most effective form of idiopathic treatment of CTS is surgery.

Lower serum triglyceride level is associated with increased stroke severity.

BACKGROUND AND PURPOSE: A previous study showed that low triglyceride concentration predicts higher mortality after stroke. The aim of our study was to determine whether serum triglyceride level is associated with stroke severity on admission. METHODS: 863 consecutive patients with acute ischemic stroke were included. Serum triglyceride level was measured within 36 hours after stroke onset. Stroke severity on admission was assessed using Scandinavian Stroke Scale (SSS). The patients were divided into 2 groups: those with severe stroke (SSS < or =25) and those with mild/moderate stroke (SSS >25). RESULTS: Patients with severe stroke had significantly lower serum triglyceride level than patients with mild/moderate stroke (1.4+/-0.6 versus 1.7+/-1.3 mmol/L). After adjusting for age, sex, atrial fibrillation, diabetes mellitus, obesity, and ischemic heart disease, patients with triglyceride >2.3 mmol/L had lower risk of severe stroke than those with triglyceride < or =2.3 mmol/L (OR: 0.58; 95% CI: 0.35 to 0.95). CONCLUSIONS: Our results suggest that lower level of triglyceride is associated with the more severe stroke.

[Predictors for diabetic neuropathy according to applied criteria of its diagnosis]. / Czynniki predykcyjne neuropatii cukrzycowej w zaleznosci od przyjetych kryteriów jej rozpoznawania.

It is difficult to establish predictors for diabetic neuropathy because no generally accepted criteria of its diagnosis exist. In previous investigations risk factors profiles for neuropathy differ markedly. The aim of this study was to assess risk predictors for diabetic neuropathy in relation to different criteria of its diagnosis. Ninety-five diabetic patients entered the study. The exclusion criteria included uremia, alcohol abuse and radiculopathy. Control group consisted of 43 healthy volunteers. All patients underwent the clinical assessment, instrumental evaluation of superficial and deep sensation, tests of cardiovascular autonomic function and nerve conduction studies. According to the performed assessment patients were classified into following groups: without neuropathy, suspicion of neuropathy, neuropathy confirmed in clinical examination, neuropathy confirmed in electrophysiological testing, autonomic neuropathy. Analysis showed that the most important predictors in patients with subjective symptoms were type 2 diabetes mellitus, diabetes duration and age of patients. When neuropathy was diagnosed according to the clinical examination, predictors included type 2 diabetesmellitus and duration of the disease. In the cases of neuropathy confirmed by electrophysiological studies and autonomic neuropathy, only diabetes duration appeared to be a significant predictor. Our study demonstrated that predictors for diabetic neuropathy varied in relation to different diagnostic criteria and where the most important predictor for all forms of neuropathy is duration of diabetes. This result indicates the need for frequent screening tests in patients with long duration of the disease, irrespective of its metabolic control, patients' age or type of diabetes.