Longitudinal variations of characteristic frequencies of skeletal muscle fibre potentials detected by a bipolar electrode or multi-electrode

We aimed to reveal reasons for longitudinal variations of characteristic frequencies of electromyographic signals detected by surface longitudinal multi-electrodes. Since the terminal phases were reduced in bipolar recordings, wetested whether the frequency variations reflected the effects of the excitation origin and extinction as in monopolar recordings. A precise and fast convolution method to calculate the signals detected by a multielectrode was suggested. The contribution of different electrode poles was introduced in the impulse response. When a longitudinal multi-electrode with an even number of poles was positioned above the end-plate of asymmetrical fibres, the signal mainly reflected the processes of the excitation extinction. This increased the signal mean and median frequencies. Although the effects of origin and extinction of the excitation were significantly reduced in the spatially filtered signals, the frequency variations along the fibre reflected these intrinsic features of any skeletal muscle fibre of finite length.     

Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations.

During a study of hereditary motor and sensory neuropathy-Lom in Bulgaria, a previously unrecognized neurological disorder was encountered, mainly in Wallachian Gypsies, who represent a relatively recent genetic isolate. The disorder has been termed the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome to emphasize its salient features. Fifty individuals from 19 extended pedigrees were identified and examined clinically and electrophysiologically. At least 1 patient from each family was admitted to the hospital in Sofia for full investigation. Pedigree analysis indicates autosomal recessive inheritance. The disorder is recognized in infancy by the presence of congenital cataracts and microcorneas. A predominantly motor neuropathy beginning in the lower limbs and later affecting the upper limbs develops during childhood and leads to severe disability by the third decade. Associated neurological features are a moderate nonprogressive cognitive deficit in most affected individuals together with pyramidal signs and mild chorea in some. Accompanying nonneurological features include short stature, characteristic facial dysmorphism, and hypogonadotrophic hypogonadism. Nerve conduction studies suggest a hypomyelinating/demyelinating neuropathy, confirmed by nerve biopsy. The CCFDN syndrome is thus a pleomorphic autosomal recessive disorder displaying a combination of neurological and nonneurological features.     

A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences

Complex chromosome translocations are structural chromosomal rearrangements involving three or more chromosomes and more than two breakpoints. A complex chromosome rearrangement was detected in a phenotypically normal female patient that was referred to the hospital for genetic counseling due to reproductive failure. A cytogenetic evaluation was performed, according to standard method of chromosomal analysis, using G-banding technique. The patient’s karyotype showed a balanced complex chromosome rearrangement (BCCR) involving chromosomes 1, 8, and 11 with three breakpoints 1p31, 8q13, and 11q23. The karyotype designed according to ISCN (2013), is 46,XX,t(1;8;11)(p31;q13;q23) (8qter→8q13::1p31→1qter;8pter→8q13::11q23→11qter;11pter→11q23::1p31→1pter). Additionally, the proband’s mother and brother were tested, resulting in the same exact translocation. In this study, we describe all possible meiotic segregations regarding this translocation, as well as the clinical phenotypes which could arise, if unbalanced products of conception survive. This is a rare case of familial complex chromosome rearrangement, giving a view for its reproductive consequences.     

Lifetime exposure to self-reported occupational noise and prevalent rheumatoid arthritis in the National Health and Nutrition Examination Survey (2011–2012)

Multiple risk factors for rheumatoid arthritis (RA) have been studied, but there is a dearth of research on occupational noise, which is highly prevalent in the United States (U.S.). This study aimed to determine whether occupational noise exposure was associated with an elevated risk of prevalent RA in the U.S. general population. Data from the 2011 to 2012 cross-sectional, population-based National Health and Nutrition Examination Survey were used for secondary analysis. Self-reported lifetime exposure to very loud noise was linked to self-reported doctor-diagnosed RA in a sample of 4192 participants. Weighted logistic regression was used to obtain nationally representative prevalence odds ratios (OR). The main and fully adjusted models yielded OR = 3.98 (95% CI: 1.74, 9.11) and OR = 2.84 (95% CI: 1.23, 6.57) for participants exposed for ≥ 15 years compared to never exposed participants. Excluding those diagnosed with RA more than five years before the interview, the effect dropped to OR = 3.67 (95% CI: 1.06, 12.75) in the main model, and was no longer significant in the fully adjusted model (OR = 2.68, 95% CI: 0.80, 8.96). The only significant effect modifier was race/ethnicity, with higher risk in Non-Hispanic whites. To conclude, long-term occupational noise exposure might be a modifiable risk factor for RA, but currently, the evidence base is very thin and tenuous.     

Red blood with blue-blood ancestry: intriguing structure of a snail hemoglobin

The phylogenetic enigma of snail hemoglobin, its isolated occurrence in a single gastropod family, the Planorbidae, and the lack of sequence data, stimulated the present study. We present here the complete cDNA and predicted amino acid sequence of two hemoglobin polypeptides from the planorbid Biomphalaria glabrata (intermediate host snail for the human parasite Schistosoma mansoni). Both isoforms contain 13 different, cysteine-free globin domains, plus a small N-terminal nonglobin "plug" domain with three cysteines for subunit dimerization (total M(r) approximately 238 kDa). We also identified the native hemoglobin molecule and present here a preliminary 3D reconstruction from electron microscopical images (3 nm resolution); it suggests a 3 x 2-mer quaternary structure (M(r) approximately 1.43 MDa). Moreover, we identified a previously undescribed rosette-like hemolymph protein that has been mistaken for hemoglobin. We also detected expression of an incomplete hemocyanin as trace component. The combined data show that B. glabrata hemoglobin evolved from pulmonate myoglobin, possibly to replace a less-efficient hemocyanin, and reveals a surprisingly simple evolutionary mechanism to create a high molecular mass respiratory protein from 78 similar globin domains.     

Effect of MG132 on proteasome activity and prooxidant/antioxidant status of rat liver subjected to ischemia/reperfusion injury.

Aim: Previous studies have shown that proteasome inhibitors exerted protective effects against ischemia/reperfusion injury (IRI) of brain, heart, kidney and intestine. The aim of the present study was to investigate: (i) whether the proteasome inhibitor MG132 protects rat liver against IRI; and (ii) whether MG132 modulates prooxidant/antioxidant status of rat liver subjected to warm IRI. Methods: The left lateral and medial lobes (approximately 70% of the total liver volume) of livers of male Wistar rats were subjected to 30-min ischemia followed by 60-min reperfusion. Lactate dehydrogenase (LDH), aspartate aminotransferase (AST), and alanine aminotransferase (ALT) levels were measured in the plasma. Proteasome chymotryptic-like (ChT-L) activity, levels of thiobarbituric acid-reactive substances (TBARS), protein carbonyls (PC) and glutathione (GSH), as well as superoxidase dismutase (SOD), catalase (CAT), glutathionine peroxidase and glutathionine reductase activities were measured in liver fractions. Results: Thirty-min ischemia followed by 60-min reperfusion increased liver TBARS and PC, CAT and SOD activities, but decreased GSH level. Ischemia/reperfusion-induced oxidative stress was exacerbated in mitochondria, indicating that these organelles are the preferential target of IRI. Plasma LDH and AST levels were decreased by MG132 during both ischemia and reperfusion, while ALT values were decreased only after 30 min of reperfusion. MG132 did not significantly affect liver TBARS and GSH levels, but it increased PC and decreased ChT-L activity; the activities of CAT and SOD were also decreased. Conclusions: MG132 exerts a protective effect during the early phase of reperfusion and it modulates prooxidant/antioxidant status of rat liver subjected to warm IRI.     

Hemorheology and vascular reactivity in patients with diabetes mellitus type 2

The study aimed to investigate the hemorheological parameters in patients with diabetes mellitus type 2 and to estimate their relationship with the cerebral and cutaneous blood flow and their responses to postural changes. The basic hemorheological constituents: hematocrit (Ht), fibrinogen (Fib), whole blood (WBV) and plasma viscosity (PV) were examined in 20 patients with diabetes mellitus type 2 and in 10 healthy age and sex matched controls. Blood flow velocity in the middle cerebral artery (MCA) was measured by transcranial Doppler monitoring at rest and during 5-min head-up tilt. Also laser Doppler-recorded tiptoe skin blood flow was investigated and venoarteriolar reflex perfusion responses to postural impact was monitored. Significant increase of Fib and WBV at shear rates of 0.0237 s(-1) to 128.5 s(-1) in the patients in comparison to controls was found. The postural challenge caused decrease of the cerebral blood flow velocity and increase of the resistance index (RI) in the diabetic patients. The initial mean skin perfusion values of the tiptoes and the venoarteriolar constriction response indices were significantly higher in the diabetes group. In the patients with diabetes mellitus type 2 the increased blood viscosity values were associated with impaired cerebrovascular and peripheral vascular responces.