Spinal muscular atrophy carrier frequency in Saudi Arabia.

Background: Spinal Muscular Dystrophy (SMA) is one of the leading causes of death in infants and young children from heritable diseases. Although no large-scale popultion-based studies have been done in Saudi Arabia, it is reported that the incidence of SMA is higher in the Saudi population partly because of the high degree of consanguineous marriages.

Methods: The final analysis included 4198 normal volunteers aged between 18 and 25 years old, 54.

COVID-19 Pandemic Was Associated with Lower Activity but Not Higher Perioperative Mortality in a Large Eastern European Center.

BACKGROUND Surges of critically ill patients can overwhelm hospitals during pandemic waves and disrupt essential surgical activity. This study aimed to determine whether hospital mortality increased during the COVID-19 pandemic and during pandemic waves. MATERIAL AND METHODS This was a retrospective analysis of a prospective, observational, epidemiological database.

Combined quadriceps tendon reconstruction and total knee replacement with computer navigation: a case report.

Background: Chronic quadriceps tendon rupture is technically challenging for surgeons due to scarring and tendon retraction. The presence of concurrent ipsilateral knee osteoarthritis compounds the issue even further. Although a combined presentation is rare, treatment options to manage each coexisting pathology simultaneously are scarcely reported.

Angioleiomyoma as a rare cause of a painful subcutaneous nodule in the leg: a case report.

Angioleiomyomas are benign tumors originating in the vascular smooth muscles. The tumor typically presents as a painful, solitary, small subcutaneous nodule. Herein, we have described a case report of chronic leg pain due to angioleiomyoma.

Differential Gene Expression in Peripheral White Blood Cells with Permissive Underfeeding and Standard Feeding in Critically Ill Patients: A Descriptive Sub-study of the PermiT Randomized Controlled Trial.

The effect of short-term caloric restriction on gene expression in critically ill patients has not been studied. In this sub-study of the PermiT trial (Permissive Underfeeding or Standard Enteral Feeding in Critically Ill Adults Trial- ISRCTN68144998), we examined gene expression patterns in peripheral white blood cells (buffy coat) associated with moderate caloric restriction (permissive underfeeding) in critically ill patients compared to standard feeding. Blood samples collected on study day 1 and 14 were subjected to total RNA extraction and gene expression using microarray analysis.

Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients.

We reviewed our institutional experience from 2011 to 2015 on new cases of Fanconi anemia (FA). Ten unrelated cases were diagnosed during this period. Four patients with severe aplastic anemia (SAA) had c.

The surgical waiting time initiative: A review of the Nigerian situation.

The concept of surgical waiting time initiative (SWAT) was introduced in developed countries to reduce elective surgery waiting lists and increase efficiency of care. It was supplemented by increasing popularity of day surgery, which shortens elective waiting lists and minimises cancellations. It is established in Western countries, but not in developing countries like Nigeria where it is still evolving.

Monomeric C-reactive protein and Notch-3 co-operatively increase angiogenesis through PI3K signalling pathway.

C-reactive protein (CRP) is the most acute-phase reactant serum protein of inflammation and a strong predictor of cardiovascular disease. Its expression is associated with atherosclerotic plaque instability and the formation of immature micro-vessels. We have previously shown that CRP upregulates endothelial-derived Notch-3, a key receptor involved in vascular development, remodelling and maturation.

Biomedical techniques in translational studies: The journey so far.

Biomedical techniques have wide clinical application in many fields of medicine such as oncology, rheumatology, immunology, genomics, cardiology and diagnostics; among others. This has been made possible with the use of genetic engineering and a number of techniques like Immunohistochemistry (IHC), Fluorescent Microscopy, Cell Culture, Genetically Modified (GM) Cells, Monoclonal Antibodies (MAbs), Polymerase Chain Reaction (PCR) and Western blotting. The aim of this literature review is to explore the foundations and bases of the commonly used biomedical techniques, as well as their applications in biomedical research and clinical medicine in general.

Aetio-pathogenesis of breast cancer.

This is a literature review on the aetiology and pathogenesis of breast cancer, which is the most common cancer worldwide, and the second leading cause of cancer death, especially in Western countries. Several aetiological factors have been implicated in its pathogenesis, and include age, genetics, family history, diet, alcohol, obesity, lifestyle, physical inactivity, as well as endocrine factors. These factors act separately or together in the causation of breast cancer.

HLA-A, -B, -C, -DRB1 and -DQB1 allele and haplotype frequencies in Saudis using next generation sequencing technique.

Next generation sequencing (NGS) is a promising technique that can reveal the entire gene sequences and to the highest possible resolution without any phase ambiguities. We have used this technique to investigate the frequencies of HLA-A, -B, -C, -DRB1 and -DQB1 in a Saudi cohort of healthy individuals. We used NGS using the 454 genome sequence (GS) FLX System and Conexio assign atf 454 software to human leukocyte antigen (HLA) genotype eight class I and class II loci.

Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3.

Background: Hepatitis B virus (HBV) affects millions of people worldwide. While some people are able to clear the virus following the first encounter, those who develop chronic infection manifest remarkable clinical heterogeneity that ranges from asymptomatic carrier state to cirrhosis and hepatocellular carcinoma. Despite extensive studies, little is known about genetic host factors that influence the outcome of chronic HBV infection.

Effects of indomethacin on expression of PTEN tumour suppressor in human cancers.

Background: Previous studies reported that Non-steroidal Anti-inflammatory Drugs (NSAIDs), chemicals, and food supplements can be used to up-regulate the PTEN mRNA and protein expression, suggesting that these substances may be used in prevention and/or treatment of various human cancers like spinal, brain, colon, breast, prostate, bladder and endometrial cancers.

Aim: This was to study expression and sub-cellular localisation of PTEN protein, and review the effect(s) of indomethacin on PTEN's expression in cultured Human Endometrial Cancer (HEC 1B) cell line, which is known to express significant amounts of the wild-type PTEN.

Materials And Methods: This involves culture and incubation of artificial HEC 1B cells.

Phosphatase and tensin homologue deleted on chromosome 10.

Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) is a tumor suppressor gene deleted or mutated in many human cancers such as glioblastoma, spinal tumors, prostate, bladder, adrenals, thyroid, breast, endometrium, and colon cancers. They result from loss of heterozygosity (LOH) for the PTEN gene on chromosome 10q23. Previous studies reported that various drugs, chemicals, and foods can up-regulate PTEN mRNA and protein expression in different cell lines, and they may be useful in the future prevention and/or treatment of these cancers.

A review of tip apex distance in dynamic hip screw fixation of osteoporotic hip fractures.

Fractured neck of femur is a common problem seen in elderly osteoporotic females, mostly in Western countries, among which are the extra-capsular fractures such as intertrochanteric and pertrochanteric fractures also known as peritrochanteric fractures, and commonly treated with dynamic hip screw (DHS) or compression hip screw (CHS). The DHS is based on tension band principle and allows the screw to slide within the barrel to enable compression of the fracture when the patient begins to bear weight. This principle only works in the presence of intact medial wall and so cannot be successful in a reverse oblique fracture of the proximal femur.

Radiation-induced femoral head necrosis.

There are very few cases of radiation-induced femoral head necrosis described in the literature, therefore, this case will add new knowledge and highlights important aspects in the diagnosis and management of this uncommon condition. Our patient was 74 years old and presented with left hip and groin pain for 8 months, with no previous history of trauma or osteoarthritis. However, he had been treated for metastatic prostate cancer, to the pelvis and roof of the left acetabulum, with androgen ablation, and radiotherapy 5 years before presentation.

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

Hereditary spastic paraplegia (HSP) is considered one of the most heterogeneous groups of neurological disorders, both clinically and genetically. The disease comprises pure and complex forms that clinically include slowly progressive lower-limb spasticity resulting from degeneration of the corticospinal tract. At least 48 loci accounting for these diseases have been mapped to date, and mutations have been identified in 22 genes, most of which play a role in intracellular trafficking.

A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency.

Sonic Hedgehog (SHH) within the posteriorly located zone of polarizing activity is the main controller of the antero-posterior axis of limb development. The ZRS (zone of polarizing activity regulatory sequence) is a long-range limb-specific SHH enhancer. Several point mutations in the ZRS have been described in humans.

Association of SNPs rs6498169 and rs10984447 with multiple sclerosis in Saudi patients: a model of the usefulness of familial aggregates in identifying genetic linkage in a multifactorial disease.

Objective: Genome-Wide association studies (GWAS) showed an association between subset of single-nucleotide polymorphism (SNPs) and multiple sclerosis. Our study aims to study this association in Saudi familial multiple sclerosis patients.

Methods: Four subject groups were used in this study: sporadic MS (MS patients without family history), FMS (MS patients who have at least one family member diagnosed with MS), related controls (relatives of FMS patients who appear to be free of the disease) and independent controls (healthy volunteers).

Review of hormonal treatment of breast cancer.

This critical review focuses on the role of steroid hormones and their receptors in the development and treatment of breast cancer, with special reference to estrogen receptors, as well as mechanisms of receptor-ligand interactions, response or resistance to hormonal therapy against breast cancer, in conjunction with other modalities like surgery and chemotherapy. Tamoxifen is used in hormonal treatment of breast cancer for up to five years, depending on the presentation. However, there have been recent developments in hormonal therapy of breast cancer in the last ten years, with the introduction of many different alternative therapies for this condition.

Day case surgery in Nigeria.

Patient care in Nigeria is mostly government funded, from primary to tertiary levels, with little contribution from private sector and non-governmental organizations. Healthcare provision has become more complex and expensive partly due to increasing population, aging, and frequent cancellations of electives, but also due to the increasing emergence of new diseases, as well as shrinkage of resources in many developing countries like Nigeria, resulting from recent economic downturn, and political instability. Therefore, it is important to introduce and popularize the concept of day case surgery, as this may help hospitals and healthcare providers to streamline resources by reducing length of hospital stay, decreasing morbidity and mortality, and providing valuable bed services to emergencies.

Plasticity of the superior and middle cerebellar peduncles in musicians revealed by quantitative analysis of volume and number of streamlines based on diffusion tensor tractography.

This work was conducted to study the plasticity of superior (SCP) and middle (MCP) cerebellar peduncles in musicians. The cerebellum is well known to support several musically relevant motor, sensory and cognitive functions. Previous studies reported increased cerebellar volume and grey matter (GM) density in musicians.

A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families.

Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel (AA/RRS) phocomelia syndrome are rare autosomal recessive inherited disorders characterized by aplastic/hypoplastic nails with ectopic dorsal palms, absence of humeri, hypoplastic ulnae, and bowed short radii with the elbow joints present, shown to result from missense mutations in WNT7A (p.Ala109Thr and p.Arg292Cys).