A 25-Year-Old Saudi Woman with a 2-Year History of Antisynthetase Syndrome with Interstitial Lung Disease Who Commenced Azathioprine Treatment in the Third Trimester of Pregnancy and Had a Successful Birth at Term.

BACKGROUND Antisynthetase syndrome (ASS) is a rare systemic autoimmune disease. The clinical features of ASS include interstitial lung disease (ILD), myositis, arthritis, Raynaud's phenomenon, mechanic's hands, and unexplained fever. There is a paucity of reported cases and management guidelines in pregnancy.

Association of Killer Immunoglobulin-Like Receptor and Human Leukocyte Antigen Class I Ligand with Recurrent Abortion in Saudi Women.

This study was designed to determine whether genetic polymorphisms of the killer immunoglobulin-like receptor (KIR) and human leukocyte antigen class I (HLA-C) genes are associated with recurrent spontaneous abortion (RSA) in Saudi women. Sixty-five healthy women with a history of RSA (three or more spontaneous abortions) and 65 healthy controls (with two or more healthy-born children) living in Riyadh were typed for 17 genes and the and allotypes using polymerase chain reaction-sequence-specific primer methodology. The frequencies of and were significantly lower among RSA women compared to healthy controls (odds ratio [OR] = 0.

Novel Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females.

Background: Mutations in BRCA1 gene have been implicated in ovarian cancers, and BRCA testing may be conducted in high-risk women. This study was designed to determine the frequency of three single nucleotide polymorphisms (SNPs) variants in BRCA1 gene and BRCA1 expression in Saudi females with ovarian cancer.

Methods: Expression levels of mRNA of BRCA1 gene were studied in 10 ovarian cancer and 10 normal ovarian tissues, by quantitative real time polymerase chain reaction (qPCR).

Polymorphisms in proinflammatory cytokine genes, effect on gene expression and association with preterm delivery in Saudi females.

Genetic polymorphism in proinflammatory cytokine genes may be associated with the etiology of preterm birth (PTB). The current study was designed with the aim to explore the association of genetic polymorphisms and mRNA expression of IL-1α, IL-1β, and TNF-α gene with preterm birth in the Saudi population. Genotyping of genomic DNA of 50 PTB patients and an equal number of controls were carried out using TaqMan Genotyping assay kits.

Molecular autopsy in maternal-fetal medicine.

PurposeThe application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe Mendelian disorders, has been limited.MethodsIn this study, we employed exome sequencing as a molecular autopsy tool in a cohort of 44 families with at least one death or lethal fetal malformation at any stage of in utero development. Where no DNA was available from the fetus, we performed molecular autopsy by proxy, i.

The relationship between cytokine gene polymorphism and unexplained recurrent spontaneous abortion in Saudi females.

Objective: To investigate the relationships between unexplained recurrent spontaneous abortion (RSA) and single nucleotide polymorphisms tumor necrosis factor-alpha (TNF-alpha) (-238 G/A, -308 G/A), interleukin (IL)-6 (-634 G/C) and IL-10 (-592 C/A) in the promoter region of 3 different interleukin (TNF-alpha, IL-6, and IL-10) genes.

Methods: The study group comprised 65 women (mean age: 34.1+/-6.