Breaking Barriers in Huntington's Disease Therapy: Focused Ultrasound for Targeted Drug Delivery.

Huntington's disease (HD) is a progressive neurodegenerative disease resulting from a mutation in the huntingtin (HTT) gene and characterized by progressive motor dysfunction, cognitive decline, and psychiatric disturbances. Currently, no disease-modifying treatments are available. Recent research has developed therapeutic agents that may have the potential to directly target the disease pathology, such as gene silencing or clearing the mutant protein.

The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity.

The NHGRI-EBI GWAS Catalog serves as a vital resource for the genetic research community, providing access to the most comprehensive database of human GWAS results. Currently, it contains close to 7 000 publications for >15 000 traits, from which more than 625 000 lead associations have been curated. Additionally, 85 000 full genome-wide summary statistics datasets-containing association data for all variants in the analysis-are available for downstream analyses such as meta-analysis, fine-mapping, Mendelian randomisation or development of polygenic risk scores.

The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity.

The NHGRI-EBI GWAS Catalog serves as a vital resource for the genetic research community, providing access to the most comprehensive database of human GWAS results. Currently, it contains close to 7,000 publications for more than 15,000 traits, from which more than 625,000 lead associations have been curated. Additionally, 85,000 full genome-wide summary statistics datasets - containing association data for all variants in the analysis - are available for downstream analyses such as meta-analysis, fine-mapping, Mendelian randomisation or development of polygenic risk scores.

A rare presentation of inguinal mass in postmenopausal women: leiomyoma of round ligament mimicking an irreducible inguinal hernia.

Tumors of the round ligament rarely happen; leiomyomas are considered the most common. Round ligament leiomyomas are benign tumors mimicking inguinal hernia, lymph nodes, or other inguinal masses. They are usually asymptomatic and take place in premenopausal female patients.

Juvenile Papillomatosis of the Breast: a Report of Two Cases with Review of the literature.

Background: Juvenile papillomatosis (JP) of the breast is a rare and benign proliferative disorder affecting young women. The affected patients tend to have an increased risk of breast cancer development during follow-up.

Objective: This article aims to highlight a rare entity of breast disease, that harbor risk of breast cancer.

An overview of headache treatments during the tenth century.

Although the history of treating headaches spans thousands of years, scientists during the tenth century made unique and significant contributions to understanding, treating, and preventing the development of headaches. In fact, the tenth century saw the ability to differentiate between types of headache and treatments for the first time. This article looks at the contributions of Persian, Anglo-Saxon, and Chinese medicine to the diagnosis and treatment of different types of headaches in the tenth century.

Giant Sclerosing Hepatic Hemangioma Presenting as Bornman-Terblanche-Blumgart Syndrome: a Case Report and Review of the Literature.

Background: Hepatic hemangioma represents the most frequent benign tumor originating from the liver. When the tumor exceeds 10 cm, and in some studies 4 or 5 cm, it is considered giant, which accounts for 10% of all hemangiomas arising from the liver. Histologically, Sclerosing hepatic hemangioma, in particular, is an exceedingly rare subtype of hemangioma.

The Ontology of Biological Attributes (OBA)-computational traits for the life sciences.

Existing phenotype ontologies were originally developed to represent phenotypes that manifest as a character state in relation to a wild-type or other reference. However, these do not include the phenotypic trait or attribute categories required for the annotation of genome-wide association studies (GWAS), Quantitative Trait Loci (QTL) mappings or any population-focussed measurable trait data. The integration of trait and biological attribute information with an ever increasing body of chemical, environmental and biological data greatly facilitates computational analyses and it is also highly relevant to biomedical and clinical applications.

Jejunal diverticulosis: A case report.

Introduction: Jejunal diverticulosis is a rare entity that presents a challenging diagnosis due to its vague and non-specific clinical presentations. 40 % of the patients remain asymptomatic until the development of complications.

Case Presentation: We report a case of 84 years old female who presented to the hospital with vomiting and abdominal pain, found to have jejunal diverticulosis complicated by perforation in a CT scan.

The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences.

Existing phenotype ontologies were originally developed to represent phenotypes that manifest as a character state in relation to a wild-type or other reference. However, these do not include the phenotypic trait or attribute categories required for the annotation of genome-wide association studies (GWAS), Quantitative Trait Loci (QTL) mappings or any population-focused measurable trait data. Moreover, variations in gene expression in response to environmental disturbances even without any genetic alterations can also be associated with particular biological attributes.

The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource.

The NHGRI-EBI GWAS Catalog (www.ebi.ac.

Appendix and ascending colon intussusception through a prolapsed transverse colostomy: A case report with literature review.

Introduction And Importance: Stoma creation is one of the common performed surgical procedures. For both benign and malignant conditions, in elective and emergency settings. Like any surgical procedure, it is associated with complications.

Bioinformatics in Sudan: Status and challenges case study: The National University-Sudan.

The ever increasing applications of bioinformatics in providing effective interpretation of large and complex biological data require expertise in the use of sophisticated computational tools and advanced statistical tests, skills that are mostly lacking in the Sudanese research community. This can be attributed to paucity in the development and promotion of bioinformatics, lack of senior bioinformaticians, and the general status quo of inadequate research funding in Sudan. In this paper, we describe the challenges that have encountered the development of bioinformatics as a discipline in Sudan.

Staged surgical approach for metastatic GIST, how far should we go? Case report.

Introduction: Gastrointestinal stromal tumor (GIST) is an uncommon mesenchymal neoplasm that commonly arises from the stomach and proximal small intestine but can develop in any part of the gastrointestinal tract. The disease can range from primary localized to an advanced metastatic unresectable disease in up to 30% of patients. Usually, metastasis involves the liver, peritoneum, and occasionally the lungs.

Chilaiditi syndrome: an unusual presentation in elderly man.

Chilaiditi syndrome is a radiological manifestation of a large bowel interposition between the liver and right hemidiaphragm that associated with gastrointestinal symptoms. We report a case of 78-year-old Saudi male with multiple comorbidities, presented to the emergency department with two episodes of passaging a large amount of fresh, bright blood per rectum. Later, the patient was diagnosed with Chilaiditi syndrome and managed with conservative measures.

Case report: Evisceration of abdomen after blunt trauma.

Introduction: Abdominal evisceration is uncommon after blunt abdominal trauma; therefore, it warrants urgent laparotomy. We report a young adult male who sustained multiple injuries due to a high impact mechanism resulting in blunt abdominal injury and underwent numerous laparotomies.

Case Report: In a high-speed motorcycle accident, a twenty-six-year-old male sustained a direct, blunt injury to his abdomen, which resulted in a right hemothorax, perforation of the stomach, and small bowel.

Transoral endoscopic thyroidectomy via vestibular approach: First case in Saudi Arabia.

Introduction: There has been increased interest in applying the principles of minimally invasive surgery in thyroid surgery which was promoted by Miccoli and his colleagues in 1999. Different surgical techniques since then were introduced, transcervical and extracervical approaches.

Presentation Of Case: A 33-year-old Saudi female presented with a swelling over the left side of her neck and dysphagia for three years.

Is Cholecystectomy in Patients with Symptomatic Uncomplicated Cholelithiasis Beneficial in Improving the Lipid Profile?

Introduction Gallstone disease is an emerging health issue worldwide with its incidence on the rise. The development of gallstone disease is multifactorial, with risk factors including increased age, female sex, obesity, and the use of oral contraceptive pills. It has been established that more than 50% of patients with gallstone disease have a coexisting lipid disorder.

Epidemiological assessment of distress during chemotherapy: who is affected?

Objectives: Following the rise in the incidence of cancer, the need for chemotherapy has escalated, as have its side effects. Psychological distress is one of the known side effects of chemotherapy; however, it has not received adequate attention. The purpose of this study was to measure psychological distress in patients receiving chemotherapy, making comparisons on the basis of age, gender, marital status, and chemotherapy dose, and to assess the patients' willingness to continue with treatment.