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Objective: Alazami syndrome (AS) is an infrequent genetic disorder inherited in an autosomal recessive pattern, characterized by the presence of multiple congenital abnormalities. This study explores a case of a 4-year-old girl with AS, examining symptoms, genetic factors, and treatment efficacy. Case report: A 4-year-old girl, born to consanguineous Jordanian parents, displayed dysmorphic features including low birth weight, microcephaly, hyperthyroidism, short stature, blue sclera, triangular-shaped face, deep-set eyes, narrow palpebral fissures, and a prominent forehead. Examination revealed height (92 cm) and weight (7.7 kg) below the 5th and 3rd percentiles respectively. Blood tests and renal ultrasound were normal. Whole exome sequencing (WES) identified a homozygous eight-base pair deletion within exon 5 of the LARP7 gene on chromosome 4q25, confirming the diagnosis of AS, an autosomal recessive disorder. This variant induces frameshift mutations leading to premature stop codons, suggesting a probable mechanism of illness via loss of function. Treatment involving growth monitoring and therapy led to significant improvements in height, weight, and communication skills within three months. Conclusion: We describe a rare autosomal recessive AS case due to consanguinity, with a frameshift mutation in the LARP7 gene found via WES. Our AS treatment program effectively alleviates symptoms and enhances developmental progress.

Ventricular Septal Defect, also known as VSD is a rare and life-threatening complication associated with MI. Therefore, it should be immediately diagnosed and treated. Transcatheter closure of the ventricular septal defect is a new alternative treatment approach compared to surgery. In this case, we presented a patient with post-infarct basal ventricular septal defect whose ventricular septal defect was closed using an atrial septal defect closure device. The ability to successfully close such a large defect via catheter is promising for the treatment of patients with VSD.

This research was conducted over period of 3 months with the aim of studying Age related changes of selected bones of forelimb (Scapula, Humerus, Radius and Ulna) in Local Mongrelian Dog (Canis lupus familiaris). The study entails biometrical and gross observations on the bones. The sample bones were acquired from the experimental animals of comparative anatomy in the department. The bones were categorized into various age groups for the research. The length, width, diameter and circumference of the samples (scapula, humerus, radius and ulna bones) were determined for all the groups. The shape, size, color, location, position and relation of each segment of the samples at various stages of development were determined. The differences across the age groups of different samples were observed and recorded. Based on the research result, it was concluded that, the biometric and morphometry data was found to be increasing with advancement of age. A baseline data was established with the view to enhance learning.

Nucleic acid-based therapy has become an increasingly important strategy for treating a variety of human diseases. In systemic therapy, a therapeutic gene must be delivered efficiently to its target tissues without side effects. To deliver a therapeutic gene such as plasmid DNA (pDNA) or small interfering RNA (siRNA) to target tissues by systemic administration, cationic carriers such as cationic liposomes and polymers have been commonly used as a non-viral vector. However, the binary complex of therapeutic gene and cationic carrier must be stabilized in the blood circulation by avoiding agglutination with blood components, because electrostatic interactions between positively charged complexes and negatively charged erythrocytes can cause agglutination, and the agglutinates contribute to high entrapment of the therapeutic genes in the highly extended lung capillaries. One promising approach for overcoming this problem is modification of the surface of cationic complexes with anionic biodegradable polymers such as hyaluronic acid, chondroitin sulfate, or polyglutamic acid. As another approach, we recently developed a sequential injection method of anionic polymer and cationic liposome/therapeutic gene complex (cationic lipoplex) for delivery of a therapeutic gene into the liver or liver metastasis. In this review, we describe recent advances in the delivery of therapeutic genes by lipid- and polymer-based carrier systems using anionic polymers.

Evaluation of semen characteristics is an important and prior for semen preservation. The aim of this study was to collection and evaluation of indigenous buck semen in the coastal region of Bangladesh. The semen was collected from bucks through artificial vagina method. The colour, odour, volume, viscosity, mass activity, consistency, concentration and individual sperm motility were analysed and recorded after collection from pre-selected four bucks. The colour and odour of all buck (B) semen were creamy white to milky white and fishy smell, respectively. In this study, we found that the average volume of B-1, B-2, B-3 and B-4 were 0.74, 0.98, 0.42 and 0.60 ml, respectively. The average grading of viscosity of B-1, B-2, B-3 and B-4 were 3.2, 3.8, 2.6 and 3.0, respectively. The average grading of mass activity of B-1, B-2, B-3 and B-4 were 3.6, 3.2, 2.4 and 3.4, respectively. The consistency of B-1, B-2, B-3 and B-4 were 4.2, 4.8, 2.8 and 4.0, respectively. The concentration of B-1, B-2, B-3 and B-4 were 1.58, 1.94, 0.62 and 1.54 ×109 per ml of semen volume. The average percentage of individual sperm motility of B-1, B-2, B-3 and B-4 were 81, 71, 66 and 80%, respectively. Viscosity, mass activity, consistency, concentration and individual sperm motility were significantly (p < 0.05) correlate with each other. It may be concluded that the data about semen of the bucks are in acceptable level for preservation. Further study will be designed for the evaluation of viability and motility of sperm before and after freezing as liquid semen.

Background/aim: Amitriptyline belongs to class of known as tricycline antidepresant (TCA) that is being used to treat anxiety and depressive states. It may help improve mood and feelings of well-being, relieve anxiety and tension, help to improve sleep and increase energy level. The study investigated the effect of amitriptyline on learning and memory using eighteen (18) healthy Swiss mice of both sexes weighing 16 – 25 g. Method: The animals were divided into three (3) groups consisting of six (6) animals each. Group 1 served as the control group, Group 2 was administered with amitriptyline at a dose of 3 mg/kg body weight dissolved in 3 mls of distilled water, and used to test for learning, while Group three was also given similar administration like Group 2, but used to test for memory. All the animals were tested for learning and memory performance using Novel object recognition task and Morris water maze test. Results: The results obtained from the Novel object recognition task showed that there was a significant decrease (p < 0.05) in total object approach in acquisition trial of amitriptyline treated group when compared to the acquisition trial of the control group. There was a significant decrease (p < 0.05) in retention trial of amitriptyline group when compared to retention trial in the control group. There was a significant decrease (p < 0.05) in total duration exploring objects in acquisition trial of amitriptyline treated group when compared to the acquisition trial of the control group. There was a significant increase (p < 0.05) in total duration exploring objects in retention trial of amitriptyline treated group when compared to the retention trial of the control group. There was a significant decrease (p < 0.05) in the index of habituation of amitriptyline treated group when compared to the control group. The index of discrimination showed a significant increase (p < 0.05) in amitriptyline treated group when compared to the control group and a significant decrease (p < 0.05) in amitriptyline group when compared to the control group. In the Morris water maze test, Day 1 – 3 were for acquisition training, day 4 – 6 reversal training, day 7 the probe trial day and day 8 the visible platform day. During acquisition training in the Morris water maze test, there was no significant difference in Swim latencies in day 1 and 2. However in day 3, there was a significant increase (p < 0.05) in swim latency of group compared to control group and a significant decrease (p < 0.05) in swim latency of amitriptyline treated group compared to the control group. During reversal training in day 1, 2 and 3, there was no significant difference in swim latency among the three groups. Results for the retention quadrant in the probe trials showed a significant decrease (p < 0.01) in amitriptyline group when compared to the control group. Conclusion: Results suggest that amitriptyline impairs learning and memory functions.

Introduction: Ankle sprain is a widespread impairment in sport groups; this impairment leads to an absence from the workplace. The ankle sprains incidence rates are induced by height, weight, BMI, physical fitness, level of match, classification of sport, and personal exposure to sport. Methods: A longitudinal case-control study was executed to verify the outcome of risk factors for ankle sprain at a Military Male School between 2012 and 2013 of 4987 people at risk for ankle sprain, a total of 234 cadets sustained new ankle sprains during the study, 432 non-injured cadets randomly selected as the control group. Results: Regarding to the total people at risk in our study the incidence rate was approximately 5/1000 ankle sprain-years. Cadets with ankle sprains had higher weight, BMI and higher scores in Army Physical Fitness test than the control group. Ankle sprain occurred most commonly during athletics (51.4%). Ankle sprain incidence rate did not significantly vary from different athletic competitions after controlling for athlete-exposure. Soccer and Ball Games had the highest ankle sprain incidence rate. Conclusion: Higher weight, increased BMI, greater physical conditioning and athlete exposure to selected sports were all risk factors for ankle sprain.

A thought-provoking debate in the popular literature concerning vaccination has blossomed in recent years [1-6]. While “traditionalists” support universal immunization against a variety of infectious diseases, many influential individuals hold that vaccinations do far more harm than good. The web sites vactruth.com and anhinternational.org are typical web sites to visit to understand their concerns.  More details on the debate, offering commentary on both sides of the issue, can be explored at wikipedia.org/wiki/Vaccine_controversies. In essence, however, those arguing for the universal use of vaccines point to the many millions of lives saved since mass immunization programs were introduced and further argue that resistance to routine vaccination is almost always based on false information. Those arguing against the routine use of vaccines usually either contend that the vaccines are unsafe (often maintaining that vaccine components such as formaldehyde or thimerosal are highly toxic) or alternately argue that governments simply do not have the moral authority to encroach on an individual’s freedom to make medical decisions for themselves or for their children.

Diabetes mellitus increases the possibility of different cancers. Scientists have substantiated the link of diabetes with increased prevalence, augmented progression and improved cancer aggression. Research has strengthened link of diabetes with the colorectal cancer risk among various cancers. Diagnosis and treatment have made some progress in recent years, but Colorectal is major issue for the health of people even today. In order to reduce cancer mortality, there is importance of prophylaxis, evaluation and proper treatment. Factors distressing cancer prognosis is required by policy-making system for beneficial approaches of cancer patients and improvement of disease. Eventually diabetes- specific strategies for different cancers are explored.

Background: Pseudomonas aeruginosa is one of the top five pathogens causing healthcare-associated infections. Biofilm formation is nowadays a major problem. Aim: The aim of this study was to examine the prevalence of virulence genes in clinical isolates of Pseudomonas aeruginosa at Suez Canal University Hospitals with respect to the site of infection and microbial resistance of the strains. Materials and methods: A cross-sectional descriptive study was carried out on 47 Pseudomonas aeruginosa strains collected from hospitalized patients from December 2015 to August 2017. To detect biofilm formation, we used Tissue Culture Plate Method. The virulence genes (toxA, algD, nan1, pslA and pelA) were amplified using PCR technique. Results: The highest sensitivity was to Imipenem and Ciprofloxacin (85.1% and 68.1% respectively).With respect to the virulence genes, toxA gene was detected in 45 isolates (95.7%), algD gene in 42 isolates (89.4%), pslA in 42 isolates (89.4%) %), pelA cted in 41 isolates (87.2%) and nan1gene was detected in 19 isolates (40.45%). Conclusions and Recommendations: We conclude that there is relationship between virulence genes and biofilm formation in Pseudomonas aeruginosa. We recommend the expansion of work on a larger sample size in a longer period of time.