Abstract: Osteopathia striata with cranial sclerosis (OSCS) is a rare X-linked dominant genetic disorder resulting mutation in the WTX gene. Clinically, OSCS presents with linear striations in the metaphyseal region of the long bones and pelvis in combination with sclerosis of the cranium and face. A twenty-seven year old G5T1P3A0L2 woman with a history of peri- and neonatal infant male deaths was referred to us at 22 weeks, 6 days into her recent pregnancy. Ultrasound evaluation identified a male fetus, bilaterally enlarged lateral ventricles, a cloverleaf skull, suspected bilateral cleft lip, nuchal thickening, bilateral bowed radii and ulnae, gastroschisis with herniated viscera, bilateral absent fibula and clubfeet. The results of prenatal testing identified a male fetus with a 330kb Xq11.1 deletion involving the entire WTX gene. Initial microarray analysis of maternal blood identified a normal female karyotype, 46,XX. FISH analysis with a BAC clone mapped to the WTX gene identified low-level mosaicism in blood and buccal samples, 17% and 15%, respectively, which explained the negative maternal microarray result.

Abstract: The association of HLA-B27 with ankylosing spondylitis accounts for 20 to 50% of the total disease risk. It varies markedly among racial and ethnic populations. The main purpose of the present study is to perform an investigation regarding the distribution of the human leukocyte antigen HLA-B27 and its subtypes in Moroccan healthy controls and in patients with AS and to compare this with other reports from other populations. One hundred twenty-five controls and 116 patients with AS were evaluated in this study. Among patients, three cases were associated to acute anterior uveitis. Typing of the HLA-B27 alleles was performed by microlymphocytotoxicity and polymerase chain reaction amplification with sequence-specific primers. A significant association between ankylosing spondylitis and B27 was identified; HLA-B*27 allele was carried by 46.5% of patients and only one subject from healthy controls was found to be positive (p<0.001, RR= 2.95). Among all positive patients, 64.8% were males and 53.7% belonged to 20-29 and 30–39 age groups. Being male aged 30–39 was significantly associated with B27 positivity. Four HLA- B*27 alleles were observed in this study: B*2705 (44.4%), B*2702 (29.6%), B*2703 (9.2%) and B*2708 (16.7%). The only positive subject from healthy controls carried B*2705 allele. B*2708 subtype was identified in all cases with uveitis. This allele showed a significant association with patients being female. Concluding, HLA-B27 is strongly associated with ankylosing spondylitis in Moroccan population. Our results showed a restricted number of HLA-B27 subtypes with predominance of HLA-B*2705, 02 alleles. The B*2708 allele detected for the first time in North Africa, seems to be associated with ankylosing spondylitis in the studied population.

Abstract: The dorsal fasciculi of the spinal cord are known as the chief pathways for the conduction of impulses underlying deep sensibility and tactile discrimination from limbs which reach the thalamus and ultimately the cerebral cortex after a relay at a bulbar level, the dorsal column nuclei. It is believed that the development of the dorsal fasciculi and their nuclei in the mammalian and primate series is correlated with increasing sensory discrimination in the skin and the increased development of proprioceptive sense in the limb musculature. In this review we will discuss the reflection of the development of limbs and sensory discrimination in lower animals and mammals on the organization and some functional aspects of these nuclei.

Abstract: Naphthoquinones are compounds widely distributed in the environment, both as natural products and as pharmaceutical agents. They have been the subject of much research due to their pharmacological activities. In this study, methanol extract of henna and a series of synthesized structural analogue of lawsone have been assessed for their antimicrobial activities. Methanol extract of henna and eight naphthoquinones derivatives were tested as potential antimicrobial agents against twelve bacteria and three Candida species using the agar disc diffusion and broth microdilution methods according to guidelines recommended by the Clinical and Laboratory Standards Institute. Besides 2b and 3b, methanol extract and all the synthesized compounds 1a, 2a, 1b and 1c, 2c and 3c showed weak-to-strong activity against at least one tested strain. However, the compounds 1c and 1b were found to have the most effective activity against pathogenic bacteria and displayed an activity 8 to 64 fold higher than that othe structural analogue, lawsone. Their MICs ranged from 8-64 µg ml^-1. Henna extract was found to have an interesting activity. Our results indicate an effective in vitro activity of 1,4-naphthoquinone derivatives and suggest the benefits of further studies for its application in antibiotherapy.

Abstract: The influence of ethanol on enzymatic activities of muscle and liver pyruvate kinases has been studied in rats in series of in vivo and in vitro experiments accompanied by in silico study. Activity of muscle pyruvate kinase significantly decreased in experiments on acute alcohol intoxication (5.0g/kg of body weight), during chronic alcohol consumption (3.5g/kg of body weight 2 times a day for 14 and 28 days) and during the abstinence after the period of alcohol consumption (5.0g/kg of body weight 2 times a day for 5 days). Activity of liver pyruvate kinase was not decreased in rats after the period of alcohol consumption (5.0g/kg of body weight 2 times a day for 5 days) and during chronic alcohol consumption (3.5g/kg of body weight 2 times a day for 28 days). It even became significantly higher during the chronic alcohol consumption (3.5g/kg of body weight 2 times a day) lasting for 14 days. Inhibitory effect of alcohol bolus on activities of both pyruvate kinases should be linked with certain indirect mechanisms, since direct inhibitory effect was seen in vitro only after the addition of 500 mM ethanol to the rat muscle and liver supernatants. Since lactate dehydrogenase is used in a coupled assay for pyruvate kinase activity estimation we approved that 500mM ethanol did not inhibit lactate dehydrogenase activity in human plasma. Direct inhibition of pyruvate kinases activities should be due to the ability of ethanol to bind amino acid residues from the known allosteric site for alanine binding on muscle and liver pyruvate kinases shown by us with the help of molecular docking. Indirect activation of liver pyruvate kinase can be explained by the increase of glucose blood levels in rats during alcohol consumption promoting dephosphorylation of the enzyme as well as expression of the gene coding for it, and the decrease of alanine concentration in liver.

Abstract: Background: Endometriosis is a female physical disorder that happens when cells from the lining of the womb (uterus) grow in other areas of the body i.e., outside of uterine cavity and leads to infertility. It represents a major personal and public health concern. The aim of the study was to investigate the prevalence and interferon-gamma gene CA-repeats polymorphism in patients with different stages of endometriosis.Methodology/Principal Findings: It is a case control prevalence study carried out in gynecology research centre. The mutational analysis of Interferon-γ gene CA repeats were tested for association in 356 affected women with different stages of disease and 372 women with no evidence of disease. The prevalence of endometriosis was accounted in 44.95% of infertile women. All the women were of South Indian origin and ascertained from the same infertility clinic. The broad IFN-gamma genotype and allele frequencies in all patients with different stages of endometriosis varied significantly from that in the control women (χ2 = 8.2690, 4 df, P =0.0822). The disparity in distribution was due to an increase in the a13 (114 bp) allele in the patients with endometriosis (χ2 =13.2394, p= 0.00027, OR=1.6656, 95.0% CI=1.263-2.1953). Conclusions/Significance: Significant difference was experiential in universal allele frequencies between the control women and specifically, women with endometriosis staging were tilted in the direction of minimal (39.04%) and mild disease (33.98%). Therefore, we conclude that interferon-gamma CA-repeat polymorphism may influence the likelihood of a woman developing different stages of endometriosis irrespective of its incidence.