Desmoplakin is an important cytoskeletal linker for the function of the desmosomes. Linking desmoplakin to certain types of cardiocutaneous syndromes has been a hot topic recently. Skin fragility-woolly hair syndrome is a rare autosomal recessive disorder involving the desmosomes and is caused by mutation in the desmoplakin gene (DSP). We report five members from a large family with skin fragility-woolly hair syndrome. The index is a 14-year-old girl with palmoplantar keratoderma, woolly hair, variable alopecia, dystrophic nails, and excessive blistering to trivial mechanical trauma. No cardiac symptoms were reported. Although formal cardiac examination was not feasible, the echocardiographic evaluation of the other two affected younger siblings was normal. Homozygosity mapping and linkage analysis revealed a high LOD score region in the short arm of chromosome 6 that harbors the DSP. Full sequencing of the DSP showed a novel homozygous c.7097 G>A (p.R2366H) mutation in all affected members, and the parents were heterozygous. This is the report of the third case/family of the skin fragility-woolly hair syndrome in the literature. We also present a clinical and molecular review of various desmoplakin-related phenotypes, with emphasis on onset of cardiomyopathy. The complexity of the desmoplakin and its variable presentations warrant introducing the term 'desmoplakinopathies' to describe all the phenotypes related to defects in the desmoplakin.

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Background: multiple factors can affect athletic performance including nutrition, environmental, ‎physiological, physical fitness, and genetic factors. Hormonal factors such as testosterone, and ‎myostatin (MSTN) or GDF8 can be named to show significant effect on muscle growth and ‎recovery after intensive training. Illustrating the combined relationship between the latest factors ‎may help in developing efficient program for athletic care and exceled performance.‎ Methods: participation in this work came from 67 male divided into two groups of 35 endurance ‎and sprinters and 32 power athletes, with 36 females fall into two groups of 20 sprinters and 16 ‎power athletes. Testosterone and MSTN levels were measured in both genders before, and after ‎intensive training program followed by third measurement after 5 hours rest and recovery. The ‎MSTN gene was analyzed for the presence of genetic polymorphism using specific PCR ‎amplification.‎ Results: data obtained showed the presence of negative relationship between testosterone and ‎MSTN, whereas genetic analysis showed presence of three genotypes with different frequencies ‎each one of them affected MSTN with different rate ranging from normal production levels with ‎normal function to lack of function found in power athletes showing speedup muscle recovery and ‎higher muscle mass.‎ Conclusions: higher levels of testosterone reduced MSTN levels significantly showing negative ‎correlation between them. Low expression or production of nonfunctional MSTN protein enhanced ‎muscle recovery, higher muscle mass, and improved athletic performance.‎

Bacillus subtilis, an isolate of bacillus genus, was obtained from the laboratories of Ministry of Science and Technology. The best efficient Bacillus subtilis isolate in cellulose and semi-cellulose hydrolysis was treated with Dielectric-barrier Discharge (DBD). Atmospheric cold plasma technique (non-thermal) was used by exposing them at different times (2, 3, 4 and 5 mins) separately as a first stage, and then 60 seconds after any treatment separately as a second stage. After 48 hours, the difference between the plasma source and the sample was fixed at 0.5 cm. The results showed a variation in the growth of the isolate according to the exposure time by the appearance of culture turbidity and the estimation of optical density. Positive results appeared between exposure times, the amount of optical density, and the cellulose and semi-cellulose decomposition into glucose. Bacillus subtilis increased its efficacy in cellulosic hydrolysis and semi-cellulosic materials. Bacillus subtilis showed malleability and the ability to increase the efficiency in cellulose and semi-cellulose materials hydrolysis. We conducted a new and extensive study by using cold plasma technique to increase the hydrolysis efficacy of food microorganisms.

In this work, sample of workers who are in contact with heavy metals were selected. Those were distributed as follow car customizers and welders (CW) (25), bakers (20) local power generator operators "operators" (15), and control men who their occupation was far from such contact (20). The study included measurement of testosterone, LH and FSH as fertility hormones, measurement of lead and cadmium (Cd) as heavy metals, and exposure to heat during the working day. Results showed that fertility hormones were within the control levels in all subjects; only a significant increase (p≤0.05) was recorded in LH in (CW) compared with control. Seminal fluid analysis (SFA), showed a decrease in total sperm count in all samples when compared with control. No significant raise was found in heavy metals in bakers, while a significant elevation of both types of heavy metals were recorded in blood of (CW) and (operators). It is concluded that occupation might result in elevating levels of heavy metals in welders and car customizers, and local power generator operators.