Association between the rs8028440 polymorphism of CYFIP 1 gene in autism patients

Demonstrated no association between ASD and rs8028440 polymorphism of the CYFIP1 gene, which needs further studies in a larger population of ASD subjects to find the contribution of rs8028440 polymorphism in CYFIP1 gene with ASD in Iranian patients. Introduction: Given the importance of the Cytoplasmic FMR1 Interacting Protein 1 (CYFIP1 gene) in relation to neurodevelopmental abnormalities such as autism spectrum disorder (ASD), recognizing the interaction between single nucleotide polymorphisms (SNPs) of this gene in autism cases is important. In this study, we evaluated the probable association of rs8028440 polymorphism of the CYFIP1 gene with ASD disorder in Iranian subjects. Methods and patients: The CYFIP1 gene were amplified with specific primers and the PCR products were digested with RsaI restriction enzyme to obtain the rs8028440 polymorphism in 100 ASD patients and 100 healthy control cases. Finally, the samples were genotyped using direct sequencing to identify CC, CT, and TT genotypes. Results: The Hardy-Weinberg equilibrium showed no significant deviation in the subjected population. According to our results, the frequency of the C allele was higher in ASD groups than in the control group. The full length of PCR was 662 bp and through RFLP‐PCR, normal genotype (C/C), heterozygote genotype (T/C), and homozygous genotype (T/T) was detected. Ten PCR products were sequenced and the corresponded alleles A/T and Y (C or T) were determined. It was revealed no significant difference was found between ASD subjects and controls with respect to the frequency of the rs8028440 gene allele

Some Infections May Be Endogenous

This paper advances a previous hypothesis “Human body may produces bacteria”, and proposes that some infections may be endogenous. It has been demonstrated that the Christensenellaceae, a family in the phylum Firmicutes, is heritable suggesting that human genetic material and gut bacterial material are related and human cells may generate some gut microbes It has also been shown that the fetus is exposed to bacteria prior to birth -without any evidence that they are contaminants or acquired from the environment -suggesting a possible endogenous origin of bacteria in breast milk, meconium, placenta , umbilical cord blood and amniotic fluid. Malassezia yeasts are not contagious, not culturable from the environment, cannot colonize human skin by inoculation without occlusion and neonate skin is free of Malassezia but is colonized in the first month of life suggesting that they may be endogenous. Human stem cells seem to be the most likely candidates to produce microbes: This is because they differentiate to epithelial cells and cancer cells and contain the essentials to transform to microorganisms. Future experimental studies are necessary to validate this hypothesis which may offer a new paradigm to combat opportunistic infections of possible endogenous origin.

Severe SARS-CoV-2 infection: Mortality and comorbidities in a third level hospital in San Luis Potosi, Mexico

The high rates of hypertension, obesity and diabetes in San Luis Potosí are worrying, since it has been shown that the existence of comorbidities associated with SARS-CoV-2 infection increases the risk of mortality, however most of the evidence comes from of other populations in the world for which it is necessary other investigations that focus on the Mexican population, in this case potosine. The objective of this study is to describe the clinical and respiratory characteristics of seriously ill and deceased patients with COVID-19, in a state in northeastern Mexico. And determine comorbidities, in order to apply better measures aimed at safeguarding the population at risk. Design: prospective and observational in the same medical center. Methods: Different types of variables, such as demographic data, severity, laboratory variables, ventilatory assistance received (high-flow oxygen therapy [HFO] and invasive mechanical ventilation [IMV]), oxygenation (PaO2 , PaO2 /FiO2 ), comorbidities and complications were automatically obtained. In order to analyze the difference between medians, the Fisher test (categorical variables) and the Mann-Whitney U test were used. A value of p <0.001 was considered significant. Results: 163 patients were included (G1 = 51 [31.2%]; G2 = 92 [56.44%] and G3 = 20 [31.74%]); age 65 (52-72) years; 68% men, APACHE II 18 (15 -24); SOFA 6 (4-7); arterial hypertension (25.11%) and obesity (16.82%) were the most frequent comorbidities. HFO was used in 62.7% of the patients, 85% failed. 95% of the patients required IMV and 85% ventilation in the prone position. In the population, baseline PaO2 /FiO2 improved at the 7th day (165 [125-210] vs 194 [153-285]; p = 0.02), as in G1 (164 [125-197] vs 207 [160-294]; p = 0.07), but not in G2 (163 [95-197] vs. 135 [85-177]). The development of pneumonia associated with IMV was high. The amount of D-dimer and IL-6 was also significantly increased in patients who died on the 7th day of the study. Conclusions: The lack of improvement in PaO2 /FiO2 at the 7th day could be a prognostic marker for deterioration, as well as D-dimer and IL-6 secretion. Special attention needs to be paid to managing hypertension and diabetes in adults over 60 years of age. Which was the age group with the highest mortality.

Potential Clinical Usefulness of CRISPR Cas9 Genome Editing in Cancer Treatment

Cancer is still considered a main challenge regarding morbidity and mortality, although an earlier diagnosis through screening programs and more effective cure modalities have led to decreased mortality rates so the development of new genetic editing techniques such as zinc finger and TALENs or CRISPRCas9 has enabled the production of strong animal genetic models that sums up the cooperating oncogenic lesions influencing genes with a confirmed role in the proliferation and formation. This review presents the mechanisms of separate genome-editing approaches and explains each of the common nucleasebased platforms.

Predetermined Interplay of the Projected Malignant Transformation Step as Injury Non- Resolution

Non-resolution of carcinogenesis is a paramount consideration in the systems of non-immunogenicity of tumor cells in general and as further projected by the infiltrating glioma cell within the brain parenchyma. In such terms, the performance dynamics for further progression are change attributes that bespeak of the systems of overlap and of interactivity of multiple pathways of pro-apoptosis and of anti-apoptosis as projected by mirrored system biology of cell component injury. It is within the single transformation phenomenon step in malignancy emergence that the pro-apoptosis projects the predetermination for non-resolution of cell component injury and as further determined by non-immunogenicity of the infiltrating glioma cells..

Effect of Immunozin™ therapy on hematological and biochemical parameters of Sickle Cell Disease patients who presented with fatigue, acute bone pain, and acute chest syndrome in Nigeria

Introduction: Painful vaso-occlusive crises are frequent complications of sickle cell disease (SCD), which affects about 3% of the Nigerian population with a high mortality in children. Relevance of hematological and biochemical parameters to clinical symptoms of SCD are not often documented. Aims and Objective: This study aimed at determining the prevalence of fatigue, acute bone pains (ABP) and acute chest syndrome (ACS) and to assess the associating hematological and biochemical parameters before and after administration of ImmunozinTM. Materials and Method: This study was a double-blind, two-arm, randomized control pilot study with 30 SCD patients presenting with fatigue, acute bone pains (ABP) and ACS, each of whom was given the study agent. At the first visit, after thorough assessment of each patient had been undertaken and hematological parameters were measured, the study drug was administered to each patient accordingly. This process was repeated monthly for five more monthly visits when the study concluded. At each visit, venous blood sample was collected for hematological parameters, electrolytes, urea and creatinine analyses within 2 hours of collection. Results: Means (±sd) of age and BMI (Kg/m2 ) of the study subjects were 13.0 (5.6) and 16.1 (1.9) respectively with 26 (86.7%) of the patients underweight. At enrollment into the study, 25 (83.3%), 18 (60.0%) and 10 (33.3%) of the patients presented with ABP, fatigue and ACS respectively but at the end of study, post administration of study drug, 11 (36.7%), 8 (26.7%) and 7 (23.3%) presented with ABP, fatigue and ACS. At enrollment, females were less likely to present with moderate fatigue (χ²=2.03, P-value=0.15, OR=0.23, 95% CI: 0.05, 1.18), moderate ABP (χ²=0.09, P-value=0.77, OR=0.80, 95% CI: 0.18, 3.46) and moderate ACS (χ²=0.01, P-value=0.90, OR=0.40, 95% CI: 0.03, 4.96) compared to males. Only one patient each presented with fatigue and ABP at the end of study. The values of many hematological parameters, electrolytes, urea and creatinine significantly varied at the end of the study compared with enrollment values. A significant positive correlation (Pearson’s r=0.40, P-value=0.031) was observed between serum urea and ACS at enrollment, and astonishingly between fatigue and ABP (r=0.52, P-value=0.003) but no notable correlation between any of the clinical symptoms and other variables at the end of study. Conclusion: The significant reduction in proportion of patients with fatigue, ABP and ACS at the end of study, after administration of test drug may suggest the therapeutic consequence of the test drug among SCD patients. There is urgent need to conduct multi-center and multi-disciplinary studies to corroborate these findings.

Right and Left-sided Valve Disease: A Case of Subclinical Intrapulmonary Shunt in an Adult with Malignant Carcinoid

Carcinoid tumors are highly differentiated neuroendocrine tumors (NET) that most commonly originate from the gastrointestinal tract. Liver metastases bypass first-pass metabolism and liberate vasoactive hormones into systemic circulation, causing flushing and diarrhea. Prolonged levels of circulating serotonin may adversely affect the heart by creating fibrotic endocardial deposits on native valves. The remaining serotonin is metabolized in the pulmonary circuit that leads to pathognomonic valvular disease isolated to the right side of the heart. We present a case of an adult male with known carcinoid syndrome who presented with involvement of right, as well as left-sided valves. He was found to have an intrapulmonary shunt on transesophageal echocardiogram (TEE) with bubble study. Intrapulmonary shunt should be considered, in conjunction with right-to-left shunt, lung involvement, and high levels of serotonin, for carcinoid patients with right and left-sided valve disease.

Unusual location of tuberculosis: laryngeal form

Introduction: Tuberculosis is a specific infectious disease caused by a mycobacterium: Koch's bacillus. In Morocco, the lung’s lesion is the most common site 52%, however lymph node tuberculosis is the most frequent extrapulmonary form. Laryngeal tuberculosis is rare. We present the case of a young man with a laryngeal location. Presentation of case: A 25-years-old young man, with 10-years history of alcohol and smoking consumption, was presented to our ENT department with a permanent dysphonia and dyspnea on exertion, the patient had fever and weight loss estimated to 15 kg. Clinical examination found a cachectic patient with a 38.5 ° C of temperature, without any palpable cervical mass or lymphadenopathy. A nasofibroscopy was performed showing a right vocal cord’s lesion. We performed a cervical CT scan revealing a process of the glottic and supraglottic level. Direct laryngoscopy was performed, objectifying ulcerative mass budding from the right vocal cord. Histopathological examination revealed a tuberculoid granuloma without caseating necrosis. Discussion and conclusion: Laryngeal tuberculosis is a rare and frequently under-recognized disease. It typically affects adults in the fifth decade. Literature reports dysphonia to be the most common symptom, followed by weight loss, cough, dysphagia, and odynophagia. Direct laryngoscopy allows direct visualization of the endolaryngeal lesions and performing multiple biopsies. Histopathological examination may identify granulomatous inflammation, caseating granulomas, and acid fast bacillus. However, the presence of pseudoepitheliomatous hyperplasia, which mimics squamous cell carcinoma, can make the diagnosis difficult. The pharmacologic treatment is the same as for the pulmonary forms, and results are generally excellent. Surgical intervention is reserved for those cases of airway compromise.

Comparison of the major chemical constituents and antioxidant effects in Amauroderma rugosum and Ganoderma lucidum

Aging is a major risk factor for many diseases, including cardiovascular diseases, neurological disorders, cancer and diabetes mellitus. Oxidative stress plays a key role in the aging process. Amauroderma rugosum is an edible mushroom that has rarely been studied. The aims of this study were to compare the major chemical constituents and to investigate the antioxidant effects of Amauroderma lucidum and Ganoderma lucidum. The water extract of Amauroderma lucidum contained a higher amount of total phenolic compounds than that of Ganoderma lucidum. The total polysaccharide and triterpene content in water extracts of Amauroderma rugosum and Ganoderma lucidum did not significantly differ. The water extract of Amauroderma rugosum demonstrated free radical scavenging capacity and could reduce doxorubicin-induced damage in H9c2 cardiomyoblasts. Amauroderma rugosum has stronger antioxidant and cellular protective effects than Ganoderma lucidum. Amauroderma rugosum may be beneficial in healthy aging, and further study should be encouraged

A Novel Bioengineered Wound Product with In Vitro Capabilities to Reduce Bacteria

Introduction: When microorganisms colonize a wound, there is a continuum which extends from contamination, to colonization and infection preventing a wound from healing. Biomaterials that reduce bacteria within the wound microenvironment can help progress it towards healing. Objective: This study aims to determine the in vitro bacteria reduction capabilities of a novel, commercially available bioengineered wound product (BWP) – a synthesis of gelatin (a highly purified collagen derivative), Manuka honey, and hydroxyapatite. Materials and methods: Using a direct contact method, the BWP and negative control were inoculated with suspensions of gram-positive (Staphylococcus aureus) and gram-negative (Pseudomonas aeruginosa) bacteria. After incubation for 30 minutes and 24 hours, recovery of viable organisms was performed. Results: There was a significant reduction (99.99%) in bacterial load recovered from the BWP at 24 hours compared to the negative control. Additionally, the BWP caused a significant reduction in bacterial load at 24 hours compared to 30 minutes (97% and 64% reduction for Staphylococcus aureus and Pseudomonas aeruginosa, respectively). Conclusions: The significant reduction in bacterial load in vitro suggests that the product has the potential to help manage the pathogenic bioburden of a wound..