Autism and Fragile X: Is There a Neurochemical Link?

BACKGROUND:Autism and Fragile X syndrome are intertwined. This study aimed at assessing Serotonin, Glutamate, and Gama Amino Butyric Acid (GABA) in autism and Fragile X syndrome patients and to detect possible neurochemical similarities between the 2 disorders that can be used as metabolic biomarkers.DESIGN AND METHODS: Eighty subjects divided into four groups, two diseased groups (20 male patients with Autism and 20 males with Fragile X syndrome) and two control groups (20 neurotypical male controls and 20 Down syndrome male patients) were included. Estimation of Serotonin, Glutamate and GABA were done using Enzyme linked Immunosorbent Assay (ELISA), Tandem Mass Spectrometry and high-pressure liquid chromatography (HPLC), respectively.RESULTS: Serotonin was, exclusively, significantly low in autistic children. GABA was significantly high in both autistic and Fragile X children only, but not in Down syndrome children. Glutamate was significantly high in children with autism, Fragile X and Down syndrome Children.CONCLUSIONS: Autism and Fragile X syndrome share some neurochemical similarities with regards of high Glutamate and GABA levels while Serotonin was significantly different in the 2 disorders and may be used a unique biomarker for autism

Bee venom as an alternative for antibiotics against Staphylococcus aureus infections

Abstract The misuse of antibiotics has led to antibiotic-resistant bacterial strains, making it even harder to combat and eliminate their infections. Staphylococcus aureus causes various adverse infections and diseases, including skin abscesses, bloodstream infections, pneumonia, and joint infections. In this study, we aimed to test the cytotoxic and antibacterial effects of bee venom-loaded chitosan nanoparticles (BV-loaded CS-NPs) in comparison to gamma-irradiated BV and native BV from Apis mellifera. The physiochemical characterizations of our treatments were determined by Fourier Transform Infrared Spectroscopy (FTIR), Transmission Electron Microscope (TEM), zeta-potential, release rate, and Encapsulation Efficiency (EE). Our study was conducted on both levels, in-vitro and in-vivo. For the in-vitro study, a bacterial model of Staphylococcus aureus with an ATCC number of 6538 was grown in tryptic soy agar (TSA) medium, and the inhibition zones of our drug candidates were measured with the appropriate statistical analysis performed. For the in-vivo study, levels of aspartate aminotransferase (AST), alanine aminotransferase (ALT), Creatinine, Urea, and interleukin 6 (IL-6) were analyzed. BV-loaded CS-NPs showed relatively better results than the other alternatives, which are native BV and gamma-irradiated BV. The results showed that the antibacterial effect of BV-loaded CS-NPs was greater than the alternatives. Furthermore, its cytotoxic effect was far less than the native and irradiated bee venom. These outcomes ensure that loading BV on CS-NPs makes it a promising drug candidate for an antibiotic alternative with minimal cytotoxicity and enhanced antibacterial activity

Mass spectrometry for screening of metabolic disorders: 9-year biochemical genetics experience

Background/aim Inborn errors of metabolism (IEM) are a group of congenital disorders that result from deficiency of enzymes or transporters involved in different metabolic pathways in the human body. The most severe form of these disorders appears early in the neonatal period; however, most types of IEMs are responsive to treatment if started early enough before the appearance of serious complications. The introduction of mass spectrometric techniques for analysis of metabolites accumulated in IEM facilitates the early diagnosis through enabling analysis of a large number of samples in a short period of time using small sample sizes suitable for patients in the neonatal period. The aim of this study was to find out the prevalence of amino acids, fatty acids, and organic acids disorders, using mass spectrometry among Egyptian children with metabolic disorders who were referred to the Biochemical Genetics Lab, Human Genetics, and Genome Research Institute, National Research Centre, Cairo, Egypt, over a period of 9 years. Patients and methods The present study enrolled 9245 children who visited Biochemical Genetics Department, Human Genetics, and Genome Research Institute, National Research Centre Cairo, Egypt, during the period from 2013 to 2021. All children were subjected to quantitative analysis of amino acids and acylcarnitine profiles in blood, using liquid chromatography/tandem mass spectrometry, whereas qualitative analysis of organic acids was done in urine by gas chromatography/mass spectrometry. Results Of 9245 suspected patients, 552 (5.97%) patients were diagnosed with 13 different types of IEM. A total of 383 (4.1%) patients were diagnosed with aminoacidopathies, 167 (1.8%) patients were diagnosed with organic acidurias, and two (0.02%) patients were diagnosed with fatty acid oxidation disorders. Phenylketonuria is the most prevalent IEM of this study (2%) followed by maple syrup urine disease (0.98%). Conclusion The simultaneous analysis of amino acids and acylcarnitines in dried blood spots with analysis of organic acids in urine using mass spectrometry provides an integrated panel for the early detection of IEMs in early years of life, facilitating prompt provision of treatment and avoiding serious complications that can be fatal

A review:Synthesis and medicinal importance of coumarins and their analogues (part ii)

Coumarins are a set of polyphenolic compounds isolated from plant product tonka bean, cou-marou in 1820. They belong to the family of benzopyrones, which includes benzene ring joined with the aid of a pyrone ring. Coumarins have attracted great attention of medicinal chemists and pharmacologists in recent years as they been confirmed to bear diverse pharmacological activities like anti-inflammatory and analgesic, anti oxidant, anticancer, etc. This review highlights the method of preparation, chemical reactivity, and organic properties such as anti-inflammatory, anticoagulant, antioxidant, anticancer and analgesic activities, of coumarins and their analogues

Global economic burden of unmet surgical need for appendicitis

Background There is a substantial gap in provision of adequate surgical care in many low- and middle-income countries. This study aimed to identify the economic burden of unmet surgical need for the common condition of appendicitis. Methods Data on the incidence of appendicitis from 170 countries and two different approaches were used to estimate numbers of patients who do not receive surgery: as a fixed proportion of the total unmet surgical need per country (approach 1); and based on country income status (approach 2). Indirect costs with current levels of access and local quality, and those if quality were at the standards of high-income countries, were estimated. A human capital approach was applied, focusing on the economic burden resulting from premature death and absenteeism. Results Excess mortality was 4185 per 100 000 cases of appendicitis using approach 1 and 3448 per 100 000 using approach 2. The economic burden of continuing current levels of access and local quality was US $92 492 million using approach 1 and$73 141 million using approach 2. The economic burden of not providing surgical care to the standards of high-income countries was $95 004 million using approach 1 and$75 666 million using approach 2. The largest share of these costs resulted from premature death (97.7 per cent) and lack of access (97.0 per cent) in contrast to lack of quality. Conclusion For a comparatively non-complex emergency condition such as appendicitis, increasing access to care should be prioritized. Although improving quality of care should not be neglected, increasing provision of care at current standards could reduce societal costs substantially

Global economic burden of unmet surgical need for appendicitis

Background There is a substantial gap in provision of adequate surgical care in many low- and middle-income countries. This study aimed to identify the economic burden of unmet surgical need for the common condition of appendicitis. Methods Data on the incidence of appendicitis from 170 countries and two different approaches were used to estimate numbers of patients who do not receive surgery: as a fixed proportion of the total unmet surgical need per country (approach 1); and based on country income status (approach 2). Indirect costs with current levels of access and local quality, and those if quality were at the standards of high-income countries, were estimated. A human capital approach was applied, focusing on the economic burden resulting from premature death and absenteeism. Results Excess mortality was 4185 per 100 000 cases of appendicitis using approach 1 and 3448 per 100 000 using approach 2. The economic burden of continuing current levels of access and local quality was US $92 492 million using approach 1 and$73 141 million using approach 2. The economic burden of not providing surgical care to the standards of high-income countries was $95 004 million using approach 1 and$75 666 million using approach 2. The largest share of these costs resulted from premature death (97.7 per cent) and lack of access (97.0 per cent) in contrast to lack of quality. Conclusion For a comparatively non-complex emergency condition such as appendicitis, increasing access to care should be prioritized. Although improving quality of care should not be neglected, increasing provision of care at current standards could reduce societal costs substantially