Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Background: Cystic fibrosis (CF) occurs in populations in Saudi Arabia and the Gulf area. Approximately 2000 known variants have been identified for the CF transmembrane conductance regulator (CTFR) gene. Screening for ten of the most common variants can detect 80% of alleles.

The outcomes of 80 lung transplants in a single center from Saudi Arabia.

Background: Lung transplantation has become a standard of care for a select group of patients with advanced lung diseases. Lung transplantation has undergone rapid growth in the last few years in Saudi Arabia.

Objective: Describe five years of experience with lung transplantation.

Solid organ transplantation following allogeneic haematopoietic cell transplantation: experience from a referral organ transplantation center and systematic review of literature.

Solid organ transplantation (SOT) following haematopoietic cell transplantation (HCT) is a rare event. Uncertainty exists whether such recipients are at higher risk of relapse of underlying haematological disease or at increased risk of developing infectious or immunological complications and malignancies following SOT. The experience at our referral organ transplantation center and the present literature of SOT (n = 198) in recipients following previous HCT was systematically reviewed.

Carbon nanofiber-based multiplexed immunosensor for the detection of survival motor neuron 1, cystic fibrosis transmembrane conductance regulator and Duchenne Muscular Dystrophy proteins.

Simultaneous and point-of-care detection of multiple protein biomarkers has significant impact on patient care. Spinal Muscular Atrophy (SMA), Cystic Fibrosis (CF) and Duchenne Muscular Dystrophy (DMD) are well known progressive hereditary disorders associated with increased morbidity as well as mortality. Therefore, rapid detection of biomarkers specific for these three disorders in newborns offers new opportunities for early diagnosis, delaying symptoms and effective treatment.

Successful bilateral lung transplantation from a deceased donor with active Mycobacterium tuberculosis infection.

In the present report, we describe a case wherein a Mycobacterium tuberculosis infection developed in the recipient after successful bilateral lung transplantation because of a solitary pulmonary nodule in the donor.

Lung transplantation triggered "jackhammer esophagus": a case report and review of literature.

A 19-years-old girl was referred for lung transplant due to end stage lung disease secondary to idiopathic bilateral bronchiectasis. Her routine pre lung transplant evaluation showed normal esophageal high-resolution manometry (HRM) and 24-hours impedance pH monitoring. Four weeks after the bilateral sequential lung transplantation (LTx), she developed dysphagia, chest pain and regurgitation, complicated by aspiration pneumonia.

Extended spectrum beta-lactamase producing Escherichia coli and Klebsiella pneumoniae bacteremia. Risk factors and outcome in the eastern region of Saudi Arabia.

Objective: To study the risk factors for bacteremia caused by Escherichia coli (E. coli) or Klebsiella pneumoniae (K. pneumoniae) producing extended-spectrum beta-lactamase (ESBL) and their outcome.