Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).

Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert "Bob" Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all.

Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.

Background: Citrullinemia type 1 (CTLN1) is a rare autosomal recessive disease caused by argininosuccinate synthetase (ASS) deficiency. Manifestations vary from the acute neonatal or "classic" form to a milder, late-onset, or "unconventional" form. To date, more than 93 variants in the ASS1 gene located on chromosome 9q43.

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.

Background: Recently, biallelic mutations in the Neuroblastoma Amplified Sequence NBAS gene have been identified in ten patients that present recurrent acute liver failure (RALF) in early infancy. In addition to severe liver dysfunction, some of these individuals also suffered from other comorbidities including cardiomyopathy, neurologic phenotypes and gastrointestinal immune defects. Here we report on a consanguineous Lebanese family with three siblings affected by RALF.

Cost-benefit analysis of G6PD screening in Lebanese newborn males.

Introduction: G6PD deficiency is one of the most prevalent genetic diseases in Lebanon (1% in Lebanese males). Easy and effective screening methods exist to detect this deficiency early in newborns.

Objective: To assess the cost-effectiveness of G6PD deficiency screening in the routine work-up of every male newborn in Lebanon.

Prevalence of G6PD deficiency and knowledge of diagnosis in a sample of previously unscreened Lebanese males: clinical implications.

The incidence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Lebanon is estimated at 10 per 1,000 in men and 0.4 per 1,000 in women. A community-based cluster sampling survey was conducted in 15 villages in all areas in Lebanon.

Transcription levels of Pseudomonas aeruginosa exotoxin a gene and severity of symptoms in patients with otitis externa.

Polymerase chain reaction (PCR)-based detection and transcription of the gene encoding a potent virulence factor, the exotoxin A, were done on 32 isolates of Pseudomonas aeruginosa belonging to 23 genotypes. These isolates were obtained from 22 patients who were admitted to the emergency room in a medical center during a 5-month period with the diagnosis of either unilateral or bilateral otitis externa. Patients showed symptoms that ranged from mild to severe.