Prevalence of Cardiovascular Risk Factors Among Patients With Diabetes Mellitus Type 2 at King Fahad University Hospital, Saudi Arabia.

Background Diabetes mellitus is considered a major risk factor for cardiovascular diseases. Patients with diabetes mellitus type 2 (DM-II) are at twice as high risk for the development of cardiovascular diseases than the general population. Thus, we aimed to assess the most prevalent cardiovascular risk (CVR) factors among DM-II patients in the Eastern province of Saudi Arabia.

Prevalence of hypomineralised second primary molars (HSPM) in Syrian preschool children.

Aim: The objective of this research was to determine the incidence and severity of HSPM and its association with caries in 4-5 year-old children in Latakia, Syria.

Methods: A cross-sectional study was carried out with 600 preschool children. The European Academy of Pediatric Dentistry (EAPD) criteria were used for scoring HSPM.

PTPRD copy number variants and Ewing's sarcoma: Strengthening the association and therapeutic implications.

Ewing sarcoma (ES), a common pediatric primary bone neoplasm, has a well-defined genomic landscape with various predisposing genomic elements including TP53, PMS2 and RET. Additionally, germline and somatic variants in protein tyrosine phosphatase delta (PTPRD), a tumor suppressor gene, have been identified in a limited number of ES patients. Here we present an ES patient, remarkable in terms of his young age and extent at presentation, found to have a PTPRD CNV.

Pachyonychia Congenita Associated with a Novel Variant of KRT17 Presenting Unusual Oral Manifestations.

Pachyonychia congenita (PC) is a rare autosomal dominant condition caused by heterozygous mutation in one of five keratin genes. The purpose of this paper is to report a five-day-old infant with PC whose initial presentation revealed multiple malformed natal teeth and gingival lesions on the alveolar crest. Further investiga- tions led to genetic molecular testing of the child and his parents, which revealed a de novo and novel missense variant of KRT17 (c.

Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.

ACTB and ACTG1 mutations have recently been reported to cause Baraitser-Winter syndrome (BRWS) - a rare condition characterized by ptosis, colobomata, neuronal migration disorder, distinct facial anomalies and intellectual disability. One of the patients carrying an ACTB mutation was previously diagnosed with Fryns-Aftimos syndrome (FAS), which is a rare and severe, multiple congenital anomaly (MCA) syndrome whose symptoms partially overlap with that of BRWS. However, several patients with Fryns-Aftimos were considered not to fit into the ACTB and ACTG1 spectrum because of their severe impairment and additional malformations.