Genetic causes of primary immunodeficiency in the Jordanian population.

Ιnborn errors of immunity (IEI) represents a heterogenous collection of >480 immune system anomalies, leading to severe infections, autoimmune disorders and malignancies. While these conditions are rare globally, their prevalence is notably higher in the Jordanian population, attributed to elevated rates of consanguinity. The intricate nature of IEI has driven the adoption of genomic technologies for the identification of associated genetic defects.

Relationship Between Psychological Empowerment and Nurses' Job Satisfaction: A Systematic Review and Correlational Meta-Analysis.

Psychological empowerment is a motivational concept that encompasses a person's thoughts and perceptions that give a sense of behavior and commitment to the work. Psychological empowerment is widely acknowledged to be associated with nurses' job satisfaction. However, this relationship has been found to be controversial.

Changes of Patterns and Outcomes of Ocular and Facial Trauma Among Children in Jordan.

Introduction The eye is the second most common organ affected by trauma after hands and feet. Eye trauma is a common cause of visual morbidity and may result in irreversible visual impairment and blindness. Ocular and facial trauma contribute to significant proportions of visual deficits among young children.

Challenges Faced by Mothers Caring for Children with Leukaemia During COVID-19 Pandemic: A Qualitative Study.

Purpose: This study aimed to investigate the experiences of parents who care for children diagnosed with leukaemia. This paper is focused solely on reporting the interview findings from participating mothers regarding the challenges of caring for children with leukaemia in the context of the COVID-19.

Design And Methods: The study took place in a Jordanian hospital where a descriptive qualitative design approach was applied on one oncology floor and an oncology clinic.

A Systematic Review of Current Consensus on Timing of Operative Repair Versus Spontaneous Closure for Asymptomatic Umbilical Hernias in Pediatric.

Introduction: Umbilical hernia is a common pediatric disorder that pediatric surgeons are usually asked to manage. Most cases will be closed spontaneously during the first 4-5 years of life. Low number of studies regarding umbilical defects in children does not allow a definitive guideline to be drawn about their natural history, indications and optimal timing for repair.

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

Mutations in glucokinase (GCK) cause a spectrum of glycemic disorders. Heterozygous loss-of-function mutations cause mild fasting hyperglycemia irrespective of mutation severity due to compensation from the unaffected allele. Conversely, homozygous loss-of-function mutations cause permanent neonatal diabetes requiring lifelong insulin treatment.

Hypercoagulability in a newborn with concomitant homozygous factor V Leiden and severe homozygous protein C deficiency type 1.

This is a case report of a female newborn presented with skin necrotic lesions 1 week after delivery. Laboratory investigations revealed severe homozygous protein C deficiency associated with homozygous factor V Leiden, although her pregnancy and perinatal periods were otherwise uneventful, with negative family history of thrombotic or bleeding disorders. Patient stabilization was established by supportive measures and long-term administration of fresh frozen plasma and warfarin.

Pseudo-bartter syndrome, pattern and correlation with other cystic fibrosis features.

Pseudo-Bartter Syndrome (PBS), although quite common in patients with cystic fibrosis (CF), is often missed as simple dehydration or Bartter syndrome. This study was performed in patients with PBS to compare the pattern and course of the disease with those with CF not manifesting with this syndrome. All patients with CF who attended the respiratory clinic at Queen Rania Al-Abdallah Hospital from January 2000 to April 2010 were included in this retrospective case-control study.

Pulmonary haemosiderosis in a 13-year-old girl with coeliac disease after 3 months on a gluten-free diet: case report and review of the literature.

A 13-year-old girl with controlled coeliac disease who had been on a gluten-free diet for the past 3 months was admitted with respiratory distress and hypoxia for the past week. Chest radiograph and CT scan showed bilateral widespread alveolar shadowing suggestive of a hypersensitive pneumonitis. There was a dramatic radiological and clinical response to oral corticosteroids.