Sickle Cell Disease Phenotypes and Obstructive Sleep Apnea; Are They Related?

OBJECTIVE: This study aims to compare the polysomnographic features between Arab-Indian and Benin phenotypes of sickle cell disease (SCD). MATERIALS AND METHODS: This prospective cross-sectional study was conducted in the Children's Hospital at King Fahad MedicalCity, in Riyadhwhere childrenwere recruited fromthe pediatric hematology clinic and pediatric sleepmedicine. All families were approached and patients who met the inclusion criteria and agreed to participate were included in the study. RESULTS: Eighty four children (37 of whom were females) with SCD were included in the study. Their median (interquartile) age was 9 (6.65, 11) years and their body mass index z score was -1.45 (-2.195, -1.45). The evidence of obstructive sleep apnea (OSA) was more prominent in the Benin phenotype (66.7%) in comparison to those of the Arab-Indian (35.2%) phenotype ( p = 0.006). Additionally, 56.7% of Benin had moderate to severe OSA whereas Arab-Indian had 18% with a ( p = 0.0003). Controlling for other factors, the odds ratio (confidence interval) of having OSA in Benin phenotype was 4.68 (1.42-15.38) times higher as compared to Arab-Indian phenotype. CONCLUSION: The risk of having OSA as well as the severity of OSA is higher in Benin phenotype as compared to Arab-Indian phenotype which indicates the presence of potential OSA risk factors other than the SCD itself.

14 and 6 Hz like spike wave activity is a common finding in in young patients with Prader-Willi syndrome.

STUDY OBJECTIVES: Our aim was to characterize the 14 and 6 like spike wave activity seen on electroencephalogram (EEG) in children with Prader-Willi syndrome (PWS) undergoing polysomnogram (PSG). METHODS: We performed a retrospective review of children with PWS and healthy controls who underwent diagnostic PSGs between January 1, 2007 to December 31, 2020 at SickKids, Toronto, Canada. EEGs from the PSGs were reviewed for the presence of the 14 and 6 like spike wave activity and its characteristics. Clinical correlation of the EEG variant with sleep disordered breathing indices from the PSG was also evaluated. RESULTS: 94 children with PWS and 50 healthy controls were included. The age, median (IQR) for the cohort was 1.42 (0.6, 4.2) years. There were 50 (53.2%) males in the PWS cohort. The EEG variant prevalence in this cohort was 51.0% (n=48) in children with PWS and 0% for the healthy controls. 14 and 6 Hz like spike wave activity was bilateral in 52% (25/48) children with PWS. The waves had a negative deflection in almost all patients 44/48 (92%) with PWS. It was predominantly located in the frontal leads for children with PWS, 23/48 (47.9%). It most frequently occurred during NREM stage 2 sleep for children with PWS, 25/48 (52.0%). The mean (SD) frequency was 6.8 (0.97) Hz. The median (IQR) length of the waves was 1.1 (0.8, 1.4) seconds in children with PWS. There was no correlation between the presence of the EEG variant and sleep disordered breathing indices in children with PWS. CONCLUSIONS: 14 and 6 Hz like spike wave activity EEG variant was present in more than 50% of a pediatric cohort of PWS as compared to 0% in healthy children. This EEG variant did not appear to be associated with sleep disordered breathing indices in children with PWS and is of unknown clinical significance.

Performance characteristics of the 5-ring GE Discovery MI PET/CT scanner using AAPM TG-126 report.

AIM: To report on the performance characteristics of the 5-ring GE Discovery MI PET/CT systems using the AAPM TG-126 report and compare these results to NEMA NU 2-2012 where applicable. MATERIALS AND METHODS: TG-126 testing was performed on two GE 5-Rings Discovery MI scanners. Tests performed included spatial resolution, PET/CT image-registration accuracy, sensitivity, count rate performance, accuracy of corrections, image contrast, scatter/attenuation correction, and image uniformity. All acquired data were analyzed using scanner console or free software tools as described by TG-126 and the results were then compared to published NEMA NU 2-2012 values. RESULTS: Both scanners gave similar resolution results for TG-126 and NEMA NU 2-2012 and were within manufacturer specifications. Image-registration accuracy between PET and CT using our clinical protocol showed excellent results with values ≤1 mm. Sensitivity using TG-126 was 19.43 cps/kBq while for NEMA the value was 20.73 cps/kBq. The peak noise-equivalent counting rate was 2174 kcps at 63.1 kBq/mL and is not comparable to NEMA NU 2-2012 due to differences in phantoms and methods used to measure and calculate this parameter. The accuracy of corrections for count losses for TG-126 were expressed in SUV values and found to be within 10% of the expected SUV measurement of 1. Image contrast and scatter/attenuation correction using the TG-126 method gave acceptable results. Image uniformity assessment resulted in values within the recommended ± 5% limits. CONCLUSION: These results show that the 5-ring GE Discovery MI PET/CT scanner testing using TG-126 is reproducible and has similar results to NEMA NU 2-2012 tests where applicable. We hope these results start to form the basis to compare PET/CT systems using TG-126.

Cam-type hip morphology in asymptomatic patients.

BACKGROUND: The alpha angle has been widely used in the assessment of cam-type of impingement, but recent studies have shown that this angle may also be high in asymptomatic patients. The aim of this study is to report the prevalence of cam-type morphology in asymptomatic volunteers and explore its correlation with hip clinical and radiological parameters. METHODS: This single-centre prospective study included 48 asymptomatic male volunteers (96 hips). All candidates fulfilled the inclusion and exclusion criteria. Physical examination and 1.5 -T MRI imaging were done for bilateral hips on the same day. Alpha angle measurements were obtained from 4 different positions and cam-type morphology was considered positive using 2 different cut points >55° and >60°. Descriptive statistics were analysed and correlations were performed where appropriate and p-value < 0.05 was considered to be significant. RESULTS: The prevalence of cam-type morphology using alpha angle >55° was 68.8%, 87.5%, 50% and 34.4% in the 12, 1, 2 and 3 o'clock positions respectively. While it was 38.5%, 69.8%, 26% and 12.5% in the 12, 1, 2 and 3 o'clock positions of the studied hips respectively using alpha angle >60°. The maximum alpha angle was more frequently prevalent at the 1 o'clock position in 71 (74%). Labral tear was detected in 26 (27.1%) hips and impingement test was positive in 12 (12.5%) hips. There was no correlation between the presence of cam-type morphology and range of motion of the hip, presence of positive impingement test nor labral tears. CONCLUSIONS: Cam-type morphology prevalence is high among asymptomatic males, and mostly pronounced at the 1 o'clock position. A correlation between high alpha angle and positive impingement test or labral tear was not found in our cohort. Future studies are required to determine the natural history of asymptomatic cam-type morphology and risk of hip derangement.

Polysomnography in hospitalized children: Characteristics and clinical practice at a single tertiary care center.

BACKGROUND: Polysomnography (PSG) is the gold standard for the diagnosis of pediatric sleep-disordered breathing (SDB). However, the literature characterizing the indications for inpatient PSGs and the impact on clinical decision-making is limited. OBJECTIVE: To determine the indications, results, and outcomes for children undergoing inpatient PSGs at our institution. METHODS: We performed a retrospective review of children aged 0-18 years who underwent inpatient diagnostic PSGs between July 2018 and July 2021 at SickKids, Toronto, Canada. Baseline characteristics, indications, and management were reviewed and characterized by descriptive statistics. RESULTS: Eighty-eight inpatient PSGs were performed in 75 children (male 62.7%). Median (interquartile range) age and body mass index z-score were 1.5 (0.2, 10.8) years and 0.27 (-1.58, 2.66), respectively. The most common indication for inpatient PSG was initiation and titration of ventilation (n = 34/75, 45.3%). Of the 75 children, 48 (64%) had multiple complex chronic conditions (CCCs). Sixty children (80%) underwent a baseline PSG for either the entire night or a portion of the night. Of these studies, 54 (90%) had clinically significant SDB of which isolated obstructive sleep apnea (OSA; 17/60, 28.3%) was the most common. The following management was undertaken for the 54 patients with SDB; respiratory technology (88.9%), surgical intervention (31.5%), positional therapy (1.9%), intranasal steroids (3.7%), and no further intervention (5.6%), respectively. CONCLUSIONS: Our study highlights that inpatient PSG was an important diagnostic tool resulting in directed medical and surgical management. Future multicenter studies are needed to compare indications for inpatient PSGs across institutions to develop evidence-based clinical practice guidelines.

Is surgical intervention routinely required for congenital lobar overinflation? A case series from a tertiary hospital in Riyadh, Saudi Arabia.

Introduction: Congenital lobar overinflation (CLO) is a congenital overinflation of a pulmonary lobe. The treatment choice depends on the severity of its symptoms. Surgical intervention is indicated for patients with significant symptomatology, while a conservative approach is used to treat incidental and mildly symptomatic lesions. However, the conservative approach for children with mild symptoms is not very common among pulmonologist. Therefore, we evaluated this approach to treating mildly symptomatic children. Methods: This retrospective study examined mildly symptomatic patients (n = 14) with a radiological diagnosis of CLO between June 2005 and August 2018 who were treated conservatively at KFSHRC in Riyadh. The participants' ages ranged between two days and four years, with follow-up period ranged from four months to 10 years. Results: Fourteen patients with CLO-who were 2 days to four years old and comprised 10 boys (71.4%) and four girls (28.6%)-were treated conservatively. All patients were symptomatic upon presentation, and their main clinical findings were tachypnea (85.7%) and dyspnea (78.6%). A single lobe was affected for ten patients (71.4%). Congenital cardiac anomalies founded in six patients (42.9%). Radiological image showed overinflation of all patients' affected lobes. Significant mediastinal displacement was observed among two patients (14.3%). During their follow-up periods, nine patients (64.3%) became asymptomatic, three (21.4%) showed improvement, and two (14.3%) remained symptomatic and underwent lobectomy. Conclusions: The good outcomes for mildly symptomatic children with CLO in our series indicate that the conservative approach can be considered to treat these children at any age, along with close follow-up.

Development of Student Survey on Writing Nursing Care Plan: An exploratory sequential mixed-methods study.

AIM: To come up with a newly developed survey tool that will measure the students' level of quality in writing nursing care plans (NCPs). BACKGROUND: Exploring various challenges of students in writing NCP would enlighten educators to design innovative strategies on how to mitigate gaps between nursing education and practice. METHODS: This study utilized an exploratory sequential mixed-methods design in three stages. In phase 1, qualitative semi-structured interviews of 22 students were conducted, and the data were analysed using the Colaizzi method. In phase 2, qualitative results were transformed into survey components, constructs and items, and the data were developed into a new survey tool based on the nursing process system (NPS) model. In phase 3, a quantitative cross-sectional survey of 195 nursing students was conducted to measure their level of quality in writing NCP, and the data were analysed using descriptive statistics of the SPSS software. RESULTS: In the first (qualitative) phase, five themes emerged from various challenges of nursing students in writing care plans: (a) data gathering; (b) identifying clients' problems; (c) formulating sustainable goals; (d) providing appropriate interventions; and (5) recognizing client's outcomes. In the second phase, a valid and reliable tool called the Student Survey on Writing Nursing Care Plan (SSW-NCP) was developed and tested. Lastly, in the third (quantitative) phase, the nursing students have shown a 'very good' level of quality in writing NCP. CONCLUSION: Determining students' level of quality in writing NCP would come up with comprehensive ways of improving student competencies in patient care management. IMPLICATIONS FOR NURSING MANAGEMENT: The survey tool that is formulated from the study will provide relevant information for nurse educators and managers in managing students' and registered nurses' capabilities in writing an excellent care plan.

Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience.

BACKGROUND: Primary ciliary dyskinesia (PCD) is a ciliopathy with diverse clinical and genetic findings caused by abnormal motile cilia structure and function. In this study, we describe the clinical characteristics of confirmed PCD cases in our population and report the radiological, genetic, and laboratory findings. METHODS: This was a retrospective, observational, single-centre study. We enrolled 18 patients who were diagnosed with confirmed PCD between 2015 and 2019. We then analyzed their data, including clinical findings and workup. RESULTS: In our cohort, 56% of patients had molecularly confirmed PCD, and RSPH9 was the most common gene identified. Transmission electron microscopy (TEM) showed an ultrastructural defect in 64% of samples, all of which matched the genetic background of the patient. Situs inversus (SI) was observed in 50% of patients, and congenital heart disease was observed in 33%. The median body mass index (BMI) was 15.87 kg/m2, with a median z score of -1.48. The median FEV1 value was 67.6% (z score - 2.43). Radiologically, bronchiectasis was noted in 81% of patients at a variable degree of severity. Lung bases were involved in 91% of patients. We were unable to correlate the genotype-phenotype findings. CONCLUSION: We describe the clinical and molecular characteristics of patients with confirmed PCD in a tertiary centre in Saudi Arabia and report 9 new pathogenic or likely pathogenic variants in one of the PCD-associated genes.

A case of infantile exogenous lipoid pneumonia with an unusual complication managed by modified whole lung lavage.

Exogenous lipoid pneumonia (ELP) is a known complication of lipid administration through either the nasal or oral route. ELP in paediatric patients is usually managed by discontinuing lipid administration and supportive care, including respiratory support and the use of antibiotics for secondary bacterial infection. The other modalities that remain controversial include the use of corticosteroids and clearing lipids by whole lung lavage. We report a 2-month-old infant who presented with pneumonia and whose further history revealed exposure to ghee over a month period while visiting her grandparents in the south region of Saudi Arabia. The patient was later diagnosed as having ELP and was successfully managed with modified whole lung lavage till weaned off from oxygen. Unfortunately, the case was complicated by nontuberculous Mycobacterium chelonae, and the patient died despite maximum intervention.

Pediatric gastropleural fistula, a complication of sleeve gastrectomy: Case report and brief review.

Gastropleural fistula (GPF) is a rare pathological communication between the stomach and pleura. It may complicate sleeve gastrectomy (SG). An endoscopic application of OTSC can be used to manage GPF.

Workplace violence among Registered Nurses in Saudi Arabia: A qualitative study.

AIM: The primary aim of this qualitative inquiry is to explore the experiences of Registered Nurses working in Saudi Arabia, which was a guide to answer the question, "what are the lived experiences of Registered Nurses working in a selected government hospital in Eastern Region of Saudi Arabia towards workplace violence?" BACKGROUND: Workplace violence is a social phenomenon that needs a widespread campaign to eradicate. Incidence from all over the world continues to grow in number, especially among Registered Nurses in Saudi Arabia. METHODS: Descriptive phenomenology. Purposive-convenience sampling was used in selecting 21 Registered Nurses as participants for individual in-depth interviews. Data were gathered over an 11 month's period from September 2017 to August 2018. We used Colaizzi's method for analysing the data. COREQ criteria were adapted in reporting the results of the study. RESULTS: Three themes had emerged from the experiences of the participants: "co-workers become unjust and violent"; "socio-cultural divergence towards healthcare workers"; and "violence from outside influences affecting the workplace."

An SFTPC gene mutation causes childhood interstitial lung disease: first report in the Arab region.

BACKGROUND: Surfactant protein C dysfunction is one of the causes of childhood interstitial lung disease but has not previously been reported in Arabian countries. CASE PRESENTATION: A six-year-old girl had presented at the age of eight months old with bronchiolitis followed by a persistent cough, dyspnea and hypoxaemia. She was found to have gastroesophageal reflux disease, but her symptoms did not resolve despite her therapy being optimised. Further tests, including a chest computed tomographic scan, lung biopsy and genetic testing, confirmed a diagnosis of surfactant protein C dysfunction. CONCLUSION: We report the first case in the Arab region of childhood interstitial lung disease caused by surfactant protein C deficiency.

Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis.

The  methionyl-tRNA  synthetase  (MARS)  mutation is  a  very  rare  cause  of  congenital  pulmonary  alveolar proteinosis.We report a 6-month-old boy born with symmetrical intrauterine growth retardation presented with unexplained persistent tachypnea and hypoxemia associated with severe failure to thrive, anemia, hypoalbuminemia and hepatomegaly. Detailed pulmonary investigations including computed tomography chest scan, bronchoscopy and bronchoalveolar lavage revealed pulmonary alveolar proteinosis. Whole exome sequencing identified a homozygous novel variant in the MARS gene, c.854T>C p.(Ile285Thr).