Does Good Nebulization Therapy in the Emergency Room Reduce the Need for Hospitalization in Asthmatic Children?

INTRODUCTION: Asthma is a chronic inflammatory disorder characterized by obstruction, hyperresponsiveness, and inflammatory changes in the airways. The overall prevalence of asthma in Saudi Arabian children ranges from 8% to 25%. Studies have shown that children who did not respond adequately to treatment in the emergency room (ER) were admitted to hospital for additional treatment which increased the cost and risk of hospital-acquired infections. The quality of nebulization therapy is influenced by several factors such as the position, dose, oxygen flow rate, and duration of treatment.  Objectives: In this study, we aimed to explore factors that affect nebulization therapy in ER and to assess the relation between nebulization technique in ER and hospital admission for asthmatic children, and these aims were achieved over the period from December 2021 to May 2023. METHODOLOGY: An observational cross-sectional study was conducted in Maternity and Children Hospital (MCH) in Medina at the ER over the period from December 2021 to May 2023 for all children admitted to ER with asthma exacerbation. The sample size used to include patients in the study is 289 calculated using the Openepi website. Data were collected by observation and using medical records of the patients and analyzed using Statistical Package for Social Sciences (SPSS) version 26.0 (IBM Corp., Armonk, NY, USA). RESULTS: The total number of the sample was 289 children ages between two to 14 years. Sixty-four percent (n=185) reported as their gender as male while 36% (n = 104) as female. The median age of the children was four years old (interquartile range [IQR] = 4), and their median weight was 15 kg (IQR = 8.15). Also, more than 83% of the patients has mild asthma, while 16.3% of the sample were diagnosed with moderate to severe asthma. Besides, 92.4% of the sample was discharged from a hospital, and 76.5% received an appropriate dose of nebulization. DISCUSSION: After reviewing the results of the statistical analysis, the main findings were that the severity of asthma exacerbation was the most important factor influencing the outcome. It was found that 0.4% of patients with mild asthma were admitted to the hospital, compared to 44.7% of patients with moderate to severe asthma. CONCLUSION: Our study assessed whether effective nebulization therapy in the ER will reduce the need for hospitalization in asthmatic children and the results indicate that the severity of asthma exacerbation was the most significant factor impacting hospital admission in asthmatic patients and influenced other factors of nebulization therapy. However, the other factors, such as the patient position, oxygen flow rate, and the dose of medications did not show any clinically significant impact on hospitalization rates.

Homozygous LOXL2 variant in individuals affected by non-syndromic occipital encephalocele.

BACKGROUND: Occipital encephaloceles is a rare congenital defect in which meninges and the brain protrude out as a sac-like structure through opening in the skull. The condition can result in neurologic complications as well as structural abnormalities of the skull. To the best of our knowledge, no genetic variant has been identified as an underlying cause of non-syndromic occipital encephaloceles. METHODS: In this study, I report a family with 2 individuals having large occipital encephalocele. Clinical and radiological examination did not reveal any other neurological or skeletal manifestations in both affected individuals. RESULTS: Exome sequencing detected the previously unreported homozygous single nucleotide duplication (NM_002318.3:c.64dupC) in LOXL2 gene. This is a nonsense variant (NP_002309.1:p.Leu22Profs*7) leading to a premature truncation and loss-of-function of the lysyl oxidase-like 2 protein. The variant is segregating in an autosomal recessive manner in a family. Both parents are heterozygous carriers for the variant while unaffected sibs have wild type sequence. CONCLUSION: We hypothesize that LOXL2 is a potential candidate gene for occipital encephalocele due to the established role of LOXL3, a close paralog of LOXL2, in craniofacial development. This case illustrates the power of exome sequencing to establish genetic diagnosis and expands the spectrum of genetic defects in occipital encephalocele and related disorders.

Impact of the Accreditation Program of the Saudi Central Board for Accreditation of Healthcare Institutions on the Safety Dimension of the Institute of Medicine Quality.

Background: Although hospital accreditation is recognized as a tool for improving healthcare, there are inconsistent results regarding its impact on healthcare quality. In Saudi Arabia, it is mandatory for all Ministry of Health (MOH) hospitals to be accredited by the Central Board for Accreditation of Healthcare Institutions (CBAHI). Purpose: This study measured the impact of the CBAHI accreditation program on the Institute of Medicine's (IOM) safety dimension in Madinah. Methods: A cross-sectional study was conducted using retrospective data gathered from a review of hospital records over 60 months (ie, 12 months before, 36 during, and 12 post-accreditation). The data were analyzed using piecewise (segmented) regression analysis. Results: The three indicators (ie: incident reports, medication errors, and nosocomial infection) were continuously improved compared to the data before accreditation, as a results of implementing the CBAHI accreditation program. Therefore, the CBAHI had a significantly positively impacts on MOH hospitals' safety dimension. Conclusion: Complying with the CBAHI standards can help reduce the rates of incident reports, medication errors, nosocomial infections, and post-admission mortality. This study provides insight for MOH hospitals and opportunities to expand the accreditation program to improve the quality of healthcare services.

The Impact of ACE Gene Variants on Acute-Phase Reactants in Children with Rheumatic Heart Disease.

Rheumatic heart disease (RHD) is the most important sequela of upper respiratory group A Streptococcus (GAS) infection. The role of the common angiotensin-converting enzyme (ACE) insertion/deletion (I/D) variant in the disease and its subtypes remains uncertain. The acute-phase reactants (APRs) C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) form part of the Jones criteria for diagnosing RHD, and genetic factors are known to influence baseline CRP and ESR levels. Therefore, here, we investigated the relationship between the ACE I/D polymorphism and APR levels in RHD. A total of 268 individuals were recruited, including 123 RHD patients and 198 healthy controls. There was a trend toward a higher D allele frequency in RHD patients. The ACE I/D polymorphism genotype frequency and DD+ID allelic carriage were significantly associated with a high APR level (p = 0.04 and p = 0.02, respectively). These results highlight the importance of ACE I/D polymorphisms in RHD for disease stratification, but not for disease predisposition. Further studies in larger cohorts and different populations are now required to confirm this association and to explore the mechanism of this effect.

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.

Background and Objectives: Lamellar ichthyosis is a rare skin disease characterized by large, dark brown plate-like scales on the entire body surface with minimum or no erythema. This phenotype is frequently associated with a mutation in the TGM1 gene, encoding the enzyme transglutaminase 1 which plays a catalytic role in the formation of the cornified cell envelop. The present study aimed to carry out clinical and genetic characterization of the autosomal recessive lamellar ichthyosis family from Balochistan. Materials and Methods: A consanguineous family with lamellar ichthyosis was enrolled from Balochistan, Pakistan. PCR amplification of all the exons and splice site junctions of the TGM1 gene followed by Sanger sequencing was performed on the genomic DNA. The identified variant was checked by In silico prediction tools to evaluate the effect of the variant on protein. Results: Sanger sequencing identified a homozygous nonsense variant c.131G >A (p.Trp44*) in the TGM1 gene that segregated in the autosomal recessive mode of inheritance in the family. The identified variant results in premature termination of transcribed mRNA and is predicted to cause a truncated or absent translation product transglutaminase-1 (TGase-1) accompanied by loss of catalytic activity, causing a severe clinical phenotype of lamellar ichthyosis in the patients. Conclusions: Here, we report a consanguineous lamellar ichthyosis family with a homozygous nonsense variant in the TGM1 gene. The variant is predicted as pathogenic by different In silico prediction tools.