Prevalence of JAK 2 v617 Mutations in Malignant and Non-Malignant Tumors in the Eastern Province of the Kingdom of Saudi Arabia.

Background: Janus kinase II (JAK 2) mutation plays a critical part in the pathophysiology of myeloid pathologies and has been presented to be tangled in thrombotic obstacles of these sicknesses. This study documents the prevalence of JAK 2 v617 mutations in malignant and non-malignant tumors in the Eastern province of the Kingdom of Saudi Arabia.

Methods: A total of 112 patients were included in the current study between June 2022 and May 2023 at the Molecular Biology Laboratory of the King Fahad Hospital of the University, AlKhobar, Saudi Arabia.

Outbreak of on a neonatal intensive care unit: Lessons from a Qatari setting.

Background: is a major cause of morbidity and mortality in neonatal intensive care units (NICUs). Robust infection prevention and control is key to reducing risk.

Aims: We describe lessons learnt from an NICU outbreak of in the main maternity hospital in the country.

The role of anti-Mullerian hormone and other correlates in patients with polycystic ovary syndrome.

Background: Anti-Müllerian hormone (AMH) has recently emerged as a promising biomarker for the detection of polycystic ovarian morphology. In polycystic ovary syndrome (PCOS), an elevated level of AMH has been suggested to add value to the Rotterdam criteria in cases of diagnostic uncertainty. In this study, we evaluated the correlation between AMH and PCOS, and the potential role of AMH in PCOS diagnosis.

Catheter-associated urinary tract infection and urinary catheter utilization ratio over 9 years, and the impact of the COVID-19 pandemic on the incidence of infection in medical and surgical wards in a single facility in Western Qatar.

Introduction: Catheter-associated urinary tract infection (CAUTI) is a frequently reported healthcare-associated infection in critical and non-critical patients. Limited data are available about CAUTI incidence in non-critical patients. We aim to describe the incidence of CAUTI over 9 years and evaluate the impact of the pandemic on the incidence in non-critical acute care patients.

Ten-year incidence and impact of coronavirus infections on incidence, etiology, and antimicrobial resistance of healthcare-associated infections in a critical care unit in Western Qatar.

Background: Healthcare-associated infections (HAI) in critical patients affect the quality and safety of patient care as they impact morbidity and mortality. During the COVID-19 pandemic, an increase in the incidence rate was reported worldwide. We aim to describe the incidence of HAI in the intensive care unit (ICU) during a 10-year follow-up period and compare the incidence during the pre-COVID-19 and COVID-19 periods.

An Evaluation of Healthcare Safety Culture Among Healthcare Professionals in Secondary and Tertiary Public Hospitals in the Middle East Region.

Background and aim The provision of quality healthcare is initiated by a culture of patient safety. Understanding the patient safety culture (PSC) is a critical concept for all healthcare workers. We conducted this study to evaluate the PSC understanding among the Hamad Medical Corporation (HMC) staff members.

Impact of the COVID-19 pandemic on the incidence, etiology, and antimicrobial resistance of healthcare-associated infections in a critical care unit in Western Qatar.

Background: Healthcare-associated infections (HAIs) in critical patients affect the quality and safety of patient care and increase patient morbidity and mortality. During the COVID-19 pandemic, an increase in the incidence of HAIs, particularly device-associated infections (DAIs), was reported worldwide. In this study, we aimed to estimate the incidence of HAIs in an intensive care unit (ICU) during a 10-year period and compare HAI incidence during the preCOVID-19 and COVID-19 periods.

Prevalence and risk factors for SARS-CoV-2 infection and seroprevalence among clinical and non-clinical staff in a national healthcare system.

Background: While many studies have reported the rate and risk of SARS-CoV-2 infection among healthcare workers (HCWs), there are scant data regarding the impact of employment type and job grades upon such risk.

Methods: We determined the rate of SARS-CoV-2 infection based on a positive nasopharyngeal swab (NPS) PCR among employees of a large national healthcare system. Antibody testing was performed on those who agreed to provide a blood sample.

COVID-19 infection among healthcare workers in a national healthcare system: The Qatar experience.

Background: Our aim was to determine the prevalence of COVID-19 infection in healthcare workers (HCWs) in a national healthcare system and to understand the risk factors for infection.

Methods: The study was conducted at Hamad Medical Corporation (HMC) in Qatar, a national healthcare system with 14 hospitals and >28,000 employees, between March 10 and June 24, 2020. Data on COVID-19+ HCWs were retrieved from the electronic health records and employment records, followed by an email survey and a focused telephone interview.

Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait.

Background: Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous blistering skin disease, but in countries such as Kuwait, there are very limited data on the clinical and molecular pathology of EB. To improve understanding of EB in Kuwait, we report the experience of a local tertiary referral center over a 17.5 year period (January 2000-June 2017) in establishing clinical and molecular diagnoses.

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

SPG23 is an autosomal-recessive neurodegenerative subtype of lower limb spastic paraparesis with additional diffuse skin and hair dyspigmentation at birth followed by further patchy pigment loss during childhood. Previously, genome-wide linkage in an Arab-Israeli pedigree mapped the gene to an approximately 25 cM locus on chromosome 1q24-q32. By using whole-exome sequencing in a further Palestinian-Jordanian SPG23 pedigree, we identified a complex homozygous 4-kb deletion/20-bp insertion in DSTYK (dual serine-threonine and tyrosine protein kinase) in all four affected family members.

Epidemiology and Outcome of Ventilator-Associated Pneumonia in a Heterogeneous ICU Population in Qatar.

Objective. The purpose of this study is to collect data on epidemiology, microbiology, and outcome of VAP in our ICUs for reevaluation of the therapeutic strategies. Methods.

Phacomatosis pigmentovascularis: Report of four new cases.

Phacomatosis pigmentovascularis is a rare group of syndromes characterized by the co-existence of a vascular nevus and a pigmentary nevus with or without extracutaneous systemic involvement. The existing classifications of phacomatosis pigmentovascularis are based on phenotypic characteristics. We report four new cases of phacomatosis pigmentovascularis, three with phacomatosis cesioflammea demonstrating phenotypic variability, and one with phacomatosis cesiomarmorata.

Cutaneous Lupus Erythematosus in Children: Experience from a Tertiary Care Pediatric Dermatology Clinic.

Background/objectives: The manifestations of cutaneous lupus erythematosus (CLE) and their relevance to systemic disease are well characterized in adults, but data are limited in children. The objective of the current study was to examine the spectrum of CLE and its relationship to systemic disease in children from a tertiary care pediatric dermatology clinic.

Materials And Methods: An analysis of 26 children with CLE registered consecutively over 14 years was performed.

Systematised naevus sebaceus resulting from post-zygotic mutation in HRAS.

Naevus sebaceus has recently been shown to result from post-zygotic mutations in HRAS, KRAS or occasionally NRAS. We present details of a neonate with extensive naevus sebaceus in whom we identified a pathogenic mutation in HRAS (c.37G > C; p.

Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.

Autosomal recessive congenital ichthyosis (ARCI) is a genetically heterogeneous disorder for which subtyping through molecular analysis can help determine the eventual phenotype and prognosis. We used whole-exome sequencing to identify a new homozygous splice-site mutation in ST14 (IVS5+1G>A), encoding matriptase, in a 4-year-old girl with ARCI from a consanguineous Kuwaiti family. Clinically, she also had hypotrichosis, which supported a diagnosis of ARCI type 11.

Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.

Grainyhead-like 2, encoded by GRHL2, is a member of a highly conserved family of transcription factors that play essential roles during epithelial development. Haploinsufficiency for GRHL2 has been implicated in autosomal-dominant deafness, but mutations have not yet been associated with any skin pathology. We investigated two unrelated Kuwaiti families in which a total of six individuals have had lifelong ectodermal defects.

Noninfectious cutaneous granulomas in primary immunodeficiency disorders: report from a national registry.

: The association of noninfectious cutaneous granulomas with primary immunodeficiency disorders (PIDs) is a rare but well-recognized phenomenon. With the recent advent of new classification and broadening of the list of PIDs, there is now ever-growing number of PIDs having being reported with noninfectious cutaneous granulomas or granulomatous tissue reactions. The authors observed 4 patients with cutaneous granulomas associated with PIDs that constitute 2% of total PIDs registered with them.

Group A Streptococcus Toxic Shock Syndrome: An outbreak report and review of the literature.

Group A Streptococcal (GAS) Toxic Shock Syndrome (TSS) is an acute, rapidly progressive, and often fatal illness. Outbreaks can occur in hospitals. However, early infection control measures may interrupt transmissions and prevent morbidity and mortality.

Congenital papulonodular eruption: presenting sign of congenital leukaemia cutis.

Congenital leukaemia (CL) is a rare malignancy that accounts for < 1% of cases of childhood leukaemias. Leukaemia cutis (LC) refers to cutaneous infiltration with leukaemic cells, and is seen in 30-50% of CL cases. It may precede, follow or occur simultaneously with leukaemia.