Hemoglobin J-Auckland: a clinically silent low oxygen affinity variant presenting with persistent asymptomatic hypoxemia at high altitude.

BACKGROUND: Inherited hemoglobin disorders are common in clinical practice. While qualitative (i.e. sickle cell disease) and quantitative (thalassemia) hemoglobinopathies are usually diagnosed clinically and confirmed through simple laboratory assessments, hemoglobin variants with altered oxygen affinity often go undetected due to their typically silent clinical presentation. Hemoglobin (Hb) J-Auckland, a low oxygen affinity hemoglobin variant first described in 1987 in Auckland, New Zealand, is one such silent disorder. CASE PRESENTATION: We report for the first time a clinically evident case of previously undiagnosed Hb J-Auckland in an 8-year-old girl who presented with unexplained hypoxemia at high altitude. Her oxygen level was corrected with supplemental oxygen and when assessed at low altitude. A brief discussion of the diagnostic approach and clinical implications is provided. CONCLUSION: Standard hemoglobin analysis is essential for the evaluation of suspected altered affinity hemoglobinopathy, and genetic testing is often required for definitive diagnosis. Early recognition and diagnosis of these variants can prevent mismanagement and improve patient outcomes.

Clinical and Genetic Characterization of Patients with Primary Ciliary Dyskinesia in Southwest Saudi Arabia: A Cross Sectional Study.

BACKGROUND: Primary ciliary dyskinesia (PCD, MIM 244400) is an inherited ciliopathy disorder characterized by recurrent sinopulmonary infections, subfertility, and laterality defects. The true incidence of PCD in Saudi Arabia is not known, but it is likely underdiagnosed due to the high prevalence of consanguineous marriages. In this study, we aim to study the clinical and genetic characteristics of PCD patients in the southwestern region of Saudi Arabia to provide guidance to clinicians and researchers studying PCD. METHODS: This was a cross-sectional study conducted between 2019 and 2023 in Abha Maternity and Children's Hospital. Twenty-eight patients with clinically diagnosed PCD were recruited. The diagnosis of PCD was confirmed via whole-exome sequencing. RESULTS: A total of 28 patients from 20 families were identified and recruited for this study. The median age of patients was 7.5 years (IQR = 3, 13 years). The people of different sexes were evenly distributed, and 18 patients (64%) had neonatal respiratory distress (NRD). The median age of diagnosis was 5.5 years (IQR = 2, 11 years), while the age when the first symptoms appeared was 3 months old (IQR = 1, 6 months). The prevalence of a chronic wet cough, chronic rhinosinusitis, ear infections were 100% (n = 28), 78.6% (n = 22), and 67.9% (19), respectively. The most common gene in our study was DNAH5, which represented 17.9% (five out of twenty-eight) of the cases. Furthermore, the remaining pathogenic variants included: 14.3% with RSPH9 in four individuals (three families), 14.3% with DNAI2 in four individuals (two families), and 10.7% with LRRC56 in three individuals (one family). The most common findings on the chest CT scans were consolidation (seen in all patients), mucus plugging (seen in 95%), and bronchiectasis (seen in 77%). In the patients with bronchiectasis, the most commonly affected lobes were the right lower lobe (88%) and left lower lobe (76%). The patients with PCD and situs inversus were more likely to experience NRD than the patients with PCD and situs solitus. The median PICADAR score in the patients with PCD and situs inversus (median: 11.5; Q1: 10-Q3: 12.5) was significantly higher compared to those with PCD and situs solitus (median: 7.5; Q1: 5.8-Q3: 8) (U = 10.5; p < 0.001). CONCLUSION: This study provides preliminary data on the clinical and genetic characteristics of PCD patients in the southwestern region of Saudi Arabia. We found that DNAH5 and RSPH9 genes were the most common genes among the studied population. Furthermore, PCD should be considered for each child with early NRD and laterality defects, and further confirmatory tests are recommended. These findings also highlight the need for greater awareness of the disease in daily clinical practice to facilitate early diagnosis and avoid irreversible lung damage.

Healthcare workers' perspectives on healthcare-associated infections and infection control practices: a video-reflexive ethnography study in the Asir region of Saudi Arabia.

BACKGROUND: Healthcare-associated infections (HAIs) are a global public health problem. For the fulfillment of Saudi Arabia's Vision 2030, the promotion of preventive care medicine through HAI management is a crucial issue. This study explores the perspectives of Saudi tertiary healthcare workers (HCWs) on HAIs and infection control measures. METHODS: Quantitative data were assessed to determine HCWs' knowledge of HAI and their attitudes towards and practice of infection control measures. Semi-structured interviews were used to collect qualitative data from 40 doctors and nurses. The interviews were audio-recorded and transcribed verbatim. Further, routine sterile procedures in the wards and intensive care units were video recorded, and the footage was discussed by the infection control team and the personnel involved in the videos. This discussion was videographed and transcribed. Both interview data and reflective discussion of the video were analysed using thematic analysis. The quantitative data were analysed using the Kruskal-Wallis test and logistic regression analysis. RESULTS: Kruskal-Wallis test revealed no difference in mean knowledge, attitude, or practice scores between nurses/ doctors or the genders. There was a significant difference in knowledge score and practice scores between the Intensive care unit & the Paediatric ward /infection control department with the maximum scores in knowledge and practice among participants from the intensive care unit. Logistic regression analysis for dependent variables (knowledge and attitude) and independent variables like age, gender, designation, and departments was not significant. The qualitative data yielded four themes: knowledge of HAI and infection control, infection control measures in practice, a shortfall in infection control measures and HAI, and required implementation. Video-reflexive ethnography (VRE) revealed lapses in handwashing practice and proper usage of personal protective equipment (PPE), especially surgical masks. CONCLUSION: Early introduction of training programmes in medical and nursing schools and video demonstrations of appropriate infection control practices during sterile procedures would be highly beneficial to HCWs. A possible reason for the outbreak of Middle East Respiratory Syndrome coronavirus in this part of Saudi Arabia could be a lapse in PPE usage. Intensive training programs for all the HCWs, strict vigilant protocols, and a willingness to change behaviour and practice, will significantly benefit the spread of outbreaks.

Impact of the International Nosocomial Infection Control Consortium (INICC)'s multidimensional approach on rates of ventilator-associated pneumonia in intensive care units in 22 hospitals of 14 cities of the Kingdom of Saudi Arabia.

BACKGROUND: To analyze the impact of the International Nosocomial Infection Control Consortium (INICC) Multidimensional Approach (IMA) and use of INICC Surveillance Online System (ISOS) on ventilator-associated pneumonia (VAP) rates in Saudi Arabia from September 2013 to February 2017. METHODS: A multicenter, prospective, before-after surveillance study on 14,961 patients in 37 intensive care units (ICUs) of 22 hospitals. During baseline, we performed outcome surveillance of VAP applying the definitions of the CDC/NHSN. During intervention, we implemented the IMA and the ISOS, which included: (1) a bundle of infection prevention practice interventions, (2) education, (3) outcome surveillance, (4) process surveillance, (5) feedback on VAP rates and consequences and (6) performance feedback of process surveillance. Bivariate and multivariate regression analyses were performed using generalized linear mixed models to estimate the effect of intervention. RESULTS: The baseline rate of 7.84 VAPs per 1000 mechanical-ventilator (MV)-days-with 20,927 MV-days and 164 VAPs-, was reduced to 4.74 VAPs per 1000 MV-days-with 118,929 MV-days and 771 VAPs-, accounting for a 39% rate reduction (IDR 0.61; 95% CI 0.5-0.7; P 0.001). CONCLUSIONS: Implementing the IMA was associated with significant reductions in VAP rates in ICUs of Saudi Arabia.