Referral Patterns to Pediatric Rheumatology From Primary Care Physicians and General Pediatrics at a Single Pediatric Rheumatology Center in Saudi Arabia.

Objective This study aims to investigate referral patterns to pediatric rheumatology and assess the correctness of referrals from primary care physicians and pediatric specialties. Methodology A cross-sectional, retrospective study was conducted on all patients who were referred to the Pediatric Rheumatology Department since 2015 (= 282) at King Abdullah Specialized Children's Hospital (KASCH), Pediatric Rheumatology Clinic. Age, gender, reason for referral, clinical features, referring department, and final diagnosis were taken as variables.

Consensus clinical approach for a newly diagnosed systemic juvenile idiopathic arthritis among members of the pediatric rheumatology Arab group.

Background: Systemic juvenile idiopathic arthritis (sJIA) is a diagnosis of exclusion. The complex nature and clinical variety of the disease, as well as the vast clinical variation of disease presentation, may lead to difficulties in disease detection and subsequent delays in treatment.

Aim: To provide a consensus guidance on the management of newly diagnosed sJIA patients among pediatric rheumatologists in Arab countries.

Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo Gene Defect: Expanding the Molecular and Phenotypic Spectrum.

CDC42 (cell division cycle protein 42) belongs to the Rho GTPase family that is known to control the signaling axis that regulates several cellular functions, including cell cycle progression, migration, and proliferation. However, the functional characterization of the gene in mammalian physiology remains largely unclear. Here, we report the genetic and functional characterization of a non-consanguineous Saudi family with a single affected individual.

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.

Background: Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has been described for the four genes associated with the best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A. The Infevers database ( http://fmf.

Erlotinib in wild type epidermal growth factor receptor non-small cell lung cancer: A systematic review.

Background: Targeting epidermal growth factor receptors (EGFR) is an innovative approach to managing non-small cell lung cancer (NSCLC) which harbors EGFR mutation. However, the efficacy of these agents like erlotinib in patients without the mutation is not known.

Methods: This systematic review included Phase III randomized clinical trials that compared single agent erlotinib to other management options in the setting of NSCLC with reported outcome data on patients with EGFR wild type (EGFRWT) tumors.

DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice.

In humans, DOCK8 immunodeficiency syndrome is characterized by severe cutaneous viral infections. Thus, CD8 T cell function may be compromised in the absence of DOCK8. In this study, by analyzing mutant mice and humans, we demonstrate a critical, intrinsic role for DOCK8 in peripheral CD8 T cell survival and function.

Intestinal ischamemia in a child due to polyarteritis nodosa: a case report.

Polyarteritis nodosa (PAN) is a rare type of childhood vasculitis. We report the case of a 10-year-old boy who was referred to our hospital following an appendicectomy with fever, abdominal pain, vomiting, diarrhoea, weight loss, joint pains and skin rash. Shortly after admission, he developed peritonitis, and an emergency laparotomy revealed ischaemia of the jejunum which required partial resection.

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during growth. Mutations in LRP5 cause the autosomal recessive disorder osteoporosis-pseudoglioma syndrome (OPPG).

CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Altered growth and function of synoviocytes, the intimal cells which line joint cavities and tendon sheaths, occur in a number of skeletal diseases. Hyperplasia of synoviocytes is found in both rheumatoid arthritis and osteoarthritis, despite differences in the underlying aetiologies of the two disorders. We have studied the autosomal recessive disorder camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP; MIM 208250) to identify biological pathways that lead to synoviocyte hyperplasia, the principal pathological feature of this syndrome.

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.

Members of the CCN (for CTGF, cyr61/cef10, nov) gene family encode cysteine-rich secreted proteins with roles in cell growth and differentiation. Cell-specific and tissue-specific differences in the expression and function of different CCN family members suggest they have non-redundant roles. Using a positional-candidate approach, we found that mutations in the CCN family member WISP3 are associated with the autosomal recessive skeletal disorder progressive pseudorheumatoid dysplasia (PPD; MIM 208230).

The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1.

Objective: To delineate the clinical features in patients with the autosomal recessive camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) and to determine the location of the involved gene.

Methods: Eight affected individuals (ages 2-15 years) with CACP from 4 consanguineous kindreds were clinically evaluated. Four patients are newly described and 4 have been reported previously.