The dilemma of juvenile fibrous dysplasia versus chronic osteomyelitis of the posterior mandible: A case report.

The clinical and radiographic dilemma of fibrous dysplasia versus osteomyelitis is highlighted in this case of a 4-year-old girl with a bony hard swelling in mandibular body and ramus. Rather than relying on histopathological appearance alone, dental professionals should be familiar with the radiographic differences between the two conditions.

Ultrastructure abnormalities of collagen and elastin in Arab patients with arterial tortuosity syndrome.

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disease characterized by elongation and tortuosity of the large- and medium-sized arteries. ATS patients display features that are also found in Ehlers-Danlos syndrome (EDS) patients. ATS is caused by pathogenic mutations in the SLC2A10 gene, which encodes for the glucose transporter, GLUT10.

Multidisciplinary management of congenitally missing lateral incisors: A minimally invasive approach.

The following case report demonstrates how a multidisciplinary team approach can be utilized successfully for the minimally invasive esthetic treatment of congenitally missing maxillary lateral incisors through space closure and canine re-anatomization.

Further Evidence of a Recessive Variant in as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation.

Ehlers-Danlos syndrome (EDS) is a group of clinically and genetically heterogeneous disorder of soft connective tissues. The hallmark clinical features of the EDS are hyperextensible skin, hypermobile joints, and fragile vessels. It exhibits associated symptoms including contractures of muscles, kyphoscoliosis, spondylodysplasia, dermatosparaxis, periodontitis, and arthrochalasia.

A Novel Frameshift Mutation in the ITGB3 Gene Leading to Glanzmann's Thrombasthenia in a Saudi Arabian Family.

Glanzmann's thrombasthenia (GT) is an autosomal recessive congenital bleeding disorder of platelet aggregation. Mutations in ITGA2B and ITGB3 genes result in quantitative and/or qualitative abnormalities of the glycoprotein receptor complex IIb/IIIa (integrin αIIbβ3), which in turn impairs platelet aggregation and lead to GT. In this study, whole genome single nucleotide polymorphism (SNP) genotyping as well as whole exome sequencing was performed in a large family segregating GT.

Genetic variations in autoimmune genes and VKH disease.

Purpose: Vogt-Koyanagi-Harada (VKH) disease is a rare autoimmune disease. The autoimmune response in VKH disease is against the melanin-producing cells; therefore, in affected individuals melanocyte-containing organs manifest disease symptoms including eyes, ears, skin and nervous system. VKH is a multifactorial disease, and the precise cause of the VKH disease is unknown.

Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family.

Background: Cohen syndrome (CS) is a rare multi-system autosomal recessive disorder with a high prevalence in the Finnish population. Clinical features of Finnish-type CS are homogeneous, however, in non-Finnish populations, CS diagnosis is challenging due to broad phenotypic variability.

Methods: We studied a consanguineous family having three affected individuals with clinical features of severe intellectual disability and global developmental delay.

Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome.

Background: Individuals with proteinuria in association with hypoalbuminemia, edema, and hyperlipidemia are considered as having nephrotic syndrome (NS). NS is the most common kidney disease seen in the paediatric age group. NS is usually classified into steroid resistant nephrotic syndrome (SRNS) and steroid sensitive nephrotic syndrome (SSNS).

Predictive value of ultrasound imaging in differentiating benign from malignant breast lesions taking biopsy results as the standard.

Background: Breast lesions (BLs) are abnormal swellings within the breast. The importance lies in need to exclude breast cancer.

Objective: Due to the role of ultrasound (US) imaging in evaluating of BLs, this study was conducted to evaluate the predictive value of US imaging for differentiating benign from malignant BLs and to assess the need of biopsy in BLs.

Comparing the extent and pattern of use of social networking sites by medical and non medical university students: a multi-center study.

Objectives: Although use of social networking sites (SNSs) for fun and leisure is escalating, educational use of SNSs by students is low. Furthermore, there is a scarcity of data about the use of SNSs by students from different faculties. This study compared patterns and extent of use of SNSs among medical and nonmedical university students.

Measuring the extent and nature of use of Social Networking Sites in Medical Education (SNSME) by university students: Results of a multi-center study.

There is a sharp rise in the use of social networking sites (SNSs) by university students for various purposes. However, little is known about the use of SNSs for educational purposes. This study aims to determine educational use of SNSs by the medical students of two Saudi and a Kuwaiti medical school.

Genetics of clubfoot; recent progress and future perspectives.

Clubfoot or talipes equinovarus (TEV) is an inborn three-dimensional deformity of leg, ankle and foot. It results from structural defects of several tissues of foot and lower leg leading to abnormal positioning of foot and ankle joints. TEV can lead to long-lasting functional disability, malformation and discomfort if left untreated.

High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.

Single nucleotide polymorphisms (SNPs)-based genotyping using microarray platform is now frequently used to detect copy number variants (CNVs) in the human genome. Here, we report CNVs identified using Illumina Human Omni 2.5M oligonucleotide microarrays in 11 multiplex families with autism spectrum disorder (ASD) referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH).

The Desired Concept Maps and Goal Setting for Assessing Professionalism in Medicine.

Due to the multi-dimensional characteristics of professionalism, no single assessment modality has shown to reliably assess professionalism. This review aims to describe some of the popular assessment tools that are being used to assess professionalism with a view to formulate a framework of assessment of professionalism in medicine. In December 2015, the online research databases of MEDLINE, the Educational Resources Information Center (ERIC), Elton Bryson Stephens Company (EBSCO), SCOPUS, OVID and PsychINFO were searched for full-text English language articles published during 2000 to 2015.

Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population.

Grebe syndrome (OMIM-200700) is a very rare type of acromesomelic dysplasia with autosomal recessive inheritance. We studied a Pakistani family with two affected individuals having typical features of Grebe chondrodysplasia. Patients were observed with short and deformed limbs having a proximo-distal gradient of severity.

Xq21.31-q21.32 duplication underlies intellectual disability in a large family with five affected males.

X-linked intellectual disability is the most common form of neurological disorder in male and accounts for 5-10% of incidence in the population. Copy number variants (CNVs) have been studied extensively to identify genomic regions responsible for neurological disorders. Array CGH and SNP genotyping have identified several CNVs on X-chromosome in patients with X-linked intellectual disability.