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PURPOSE: Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency predisposing congenitally affected individuals to diseases caused by weakly virulent mycobacteria, such as Bacillus Calmette-Guérin (BCG) vaccine strains and environmental mycobacteria. IL-12p40 deficiency is a genetic etiology of MSMD resulting in impaired IL-12- and IL-23-dependent IFN-γ immunity. Most of the reported patients with IL-12p40 deficiency originate from Saudi Arabia (30 of 52) and carry the recurrent IL12B mutation c.315insA (27 of 30). METHODS: Whole-exome sequencing was performed on three patients from two unrelated kindreds from Saudi Arabia with disseminated disease caused by a BCG vaccine substrain. RESULTS: Genetic analysis revealed a homozygous mutation, p.W60X, in exon 3 of the IL12B gene, resulting in complete IL12p40 deficiency. This mutation is recurrent due to a new founder effect. CONCLUSIONS: This report provides evidence for a second founder effect for recurrent mutations of IL12B in Saudi Arabia.
Assuntos
Efeito Fundador , Estudos de Associação Genética , Predisposição Genética para Doença , Subunidade p40 da Interleucina-12/genética , Mutação , Infecções por Mycobacterium/etiologia , Pré-Escolar , Análise Mutacional de DNA , Exoma , Feminino , Humanos , Lactente , Masculino , Infecções por Mycobacterium/diagnóstico , Infecções por Mycobacterium/terapia , Linhagem , Arábia Saudita , Sequenciamento do ExomaRESUMO
Urinary tract infections (UTIs) are common healthcare-associated and community-acquired bacterial infections in children. Data on pediatric UTIs in the Gulf Cooperation Council (GCC) region (Bahrain, Kuwait, Oman, Qatar, Saudi Arabia, and the United Arab Emirates) have not been collated. Our aim is to review the published literature on the risk factors, etiology, antimicrobial susceptibility, and treatment of pediatric (aged <18 years) UTIs from healthcare and community settings in the GCC countries.
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Hospital-acquired pneumonia (HAP) and ventilator-associated pneumonia (VAP) are the most common healthcare-associated infections, with rates varying between countries. Antimicrobial resistance (AMR) among common HAP/VAP pathogens has been reported, and multidrug resistance (MDR) is of further concern across Middle Eastern countries. This narrative review summarizes the incidence and pathogens associated with HAP/VAP in hospitals across Gulf Cooperation Council (GCC) countries. A PubMed literature search was limited to available data on HAP or VAP in patients of any age published within the past 10 years. Reviews, non-English language articles, and studies not reporting HAP/VAP data specific to a GCC country were excluded. Overall, 41 articles, a majority of which focused on VAP, were selected for inclusion after full-text screening. Studies conducted over multiple years showed a general reduction in VAP rates over time, with Gram-negative bacteria the most commonly reported pathogens. Gram-negative isolates reported across GCC countries included Acinetobacter baumannii, Pseudomonas aeruginosa, and Klebsiella pneumoniae. Rates of AMR varied widely among studies, and MDR among A. baumannii, K. pneumoniae, Escherichia coli, P. aeruginosa, and Staphylococcus aureus isolates was commonly reported. In Saudi Arabia, between 2015 and 2019, rates of carbapenem resistance among Gram-negative bacteria were 19-25%; another study (2004-2009) reported antimicrobial resistance rates in Acinetobacter species (60-89%), P. aeruginosa (13-31%), and Klebsiella species (100% ampicillin, 0-13% other antimicrobials). Although limited genotype data were reported, OXA-48 was found in ≥ 68% of patients in Saudi Arabia with carbapenem-resistant Enterobacteriaceae infections. Ventilator utilization ratios varied across studies, with rates up to 0.9 reported in patients admitted to adult medical/surgical intensive care units in both Kuwait and Saudi Arabia. VAP remains a burden across GCC countries albeit with decreases in rates over time. Evaluation of prevention and treatment measures and implementation of a surveillance program could be useful for the management of HAP and VAP.
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Pott's disease (PD) represents the most common form of spinal tuberculosis. Its association with brain tuberculomas is extremely rare. Herein, we report a previously healthy child with PD and concurrent multiple brain tuberculomas who was successfully treated with antituberculous therapy, surgical drainage of the paravertebral abscess, and adjuvant steroid therapy.
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Urinary tract infection (UTI) is the most common bacterial disease in childhood worldwide and may have significant adverse consequences, particularly for young children. In this guideline, we provide the most up-to-date information for the diagnosis and management of community-acquired UTI in infants and children aged over 90 days up to 14 years. The current recommendations given by the American Academy of Pediatrics Practice guidelines, Canadian Pediatric Society guideline, and other international guidelines are considered as well as regional variations in susceptibility patterns and resources. This guideline covers the diagnosis, therapeutic options, and prophylaxis for the management of community-acquired UTI in children guided by our local antimicrobial resistance pattern of the most frequent urinary pathogens. Neonates, infants younger than three months, immunocompromised patients, children recurrent UTIs, or renal abnormalities should be managed individually because these patients may require more extensive investigation and more aggressive therapy and follow up, so it is considered out of the scope of these guidelines. Establishment of children-specific guidelines for the diagnosis and management of community-acquired UTI can reduce morbidity and mortality. We present a clinical statement from the Saudi Pediatric Infectious Diseases Society (SPIDS), which concerns the diagnosis and management of community-acquired UTI in children.
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PATIENT: Male, 0 FINAL DIAGNOSIS: Purpura fulminans Symptoms: Fever ⢠letargy MEDICATION: - Clinical Procedure: - Specialty: Pediatrics and Neonatology. OBJECTIVE: Rare disease. BACKGROUND: Neonatal purpura fulminans (PF) is a rare but frequently fatal disorder associated with high morbidity and mortality. It may be congenital, as a result of protein C and S deficiency, or acquired due to severe infection. Gram-negative organisms and Staphylococcus species are the most common causes of the acute infectious type, and a few cases of causative neonatal group B Streptococcus (GBS) disease have been reported worldwide. CASE REPORT: We present a full-term male neonate with purpura fulminans secondary to early-onset group B streptococcal (GBS) infection. The mother brought the infant to the emergency department at the age of 43 hours of life, with fever (39.5°C) and lethargy. Neonatal sepsis was suspected, and he was immediately started on intravenous ampicillin and gentamicin. The initial workup revealed disseminated intravascular coagulopathy, and both blood and CSF cultures grew GBS. He had normal levels of protein C and protein S for his age. The infant died 48 hours after admission due to multiorgan system failure despite aggressive neonatal intensive care support. CONCLUSIONS: Neonatal PF secondary to early-onset GBS infection is a fatal condition that should not be missed. Screening pregnant women for GBS colonization and use of protocols for preventing perinatal GBS infection is considered the most important preventive measure of this fatal condition, especially among Saudi women, who have a relatively high rate of GBS infection.