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1.
BMJ Lead ; 2023 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-37798102

RESUMO

The Kingdom of Saudi Arabia's (KSA) Ministry of Health's (MOH) healthcare transformation strategy aims to improve the quality of life of Saudi citizens in line with the 'Vision 2030' strategic objectives. The MOH is reforming the way healthcare will be managed in the future and is in the process of transferring healthcare service delivery responsibilities to clusters with ratified boards, while also moving the MOH from a provision of service model to a regulatory one. Several early pathfinding clusters were initiated in the eastern central and western regions. To ensure northern and southern regions were not left behind, the early innovation, while awaiting cluster nomination status, the northern and southern business units of Health Holding Company implemented the accelerated transformation programme (ATP). The ATP's remit was to develop capabilities and stimulate local engagement and ownership in the healthcare transformation process. This paper summarises the process of healthcare transformation undertaken in the northern and southern regions of KSA to date. It reviews the success in engaging with local healthcare professional communities in a standardised way and the learning from previous clusters, and elaborates on emerging implementation issues and how we may overcome them and introduce the lessons learnt from this journey.

2.
J Pediatric Infect Dis Soc ; 12(9): 487-495, 2023 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-37589394

RESUMO

BACKGROUND: Adjunctive diagnostic studies (aDS) are recommended to identify occult dissemination in patients with candidemia. Patterns of evaluation with aDS across pediatric settings are unknown. METHODS: Candidemia episodes were included in a secondary analysis of a multicenter comparative effectiveness study that prospectively enrolled participants age 120 days to 17 years with invasive candidiasis (predominantly candidemia) from 2014 to 2017. Ophthalmologic examination (OE), abdominal imaging (AbdImg), echocardiogram, neuroimaging, and lumbar puncture (LP) were performed per clinician discretion. Adjunctive diagnostic studies performance and positive results were determined per episode, within 30 days from candidemia onset. Associations of aDS performance with episode characteristics were evaluated via mixed-effects logistic regression. RESULTS: In 662 pediatric candidemia episodes, 490 (74%) underwent AbdImg, 450 (68%) OE, 426 (64%) echocardiogram, 160 (24%) neuroimaging, and 76 (11%) LP; performance of each aDS per episode varied across sites up to 16-fold. Longer durations of candidemia were associated with undergoing OE, AbdImg, and echocardiogram. Immunocompromised status (58% of episodes) was associated with undergoing AbdImg (adjusted odds ratio [aOR] 2.38; 95% confidence intervals [95% CI] 1.51-3.74). Intensive care at candidemia onset (30% of episodes) was associated with undergoing echocardiogram (aOR 2.42; 95% CI 1.51-3.88). Among evaluated episodes, positive OE was reported in 15 (3%), AbdImg in 30 (6%), echocardiogram in 14 (3%), neuroimaging in 9 (6%), and LP in 3 (4%). CONCLUSIONS: Our findings show heterogeneity in practice, with some clinicians performing aDS selectively, potentially influenced by clinical factors. The low frequency of positive results suggests that targeted application of aDS is warranted.


Assuntos
Candidemia , Candidíase Invasiva , Humanos , Criança , Idoso de 80 Anos ou mais , Candidemia/diagnóstico , Candidemia/microbiologia , Candidíase Invasiva/tratamento farmacológico , Modelos Logísticos , Estudos de Coortes , Fatores de Risco , Antifúngicos/uso terapêutico
3.
J Multidiscip Healthc ; 15: 825-836, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35480062

RESUMO

Objective: To assess the length of stay (LoS) variation for COVID-19 inpatients among the four regions of the Southern Business Unit (SBU). Methods: This is a comparative retrospective study of the LoS of COVID-19 inpatients in the four regions of the SBU in the KSA. Data was collected from the Ministry of Health (MoH) in all hospitals in the SBU. Participants were all patients admitted with confirmed COVID-19 between March 2020 and February 2021. Variables included region (variable of interest), demographics, comorbidities, and complications. Multilinear regression was performed to control for any factors that might have had an association with LoS. Results: The mean LoS of the total sample was 10 days and Bisha (the reference) was 7 days. Compared to Bisha, LoS in Jazan was 34% longer, in Najran 62% longer, and Aseer 40% longer. We observed that other factors also had an association with LoS, compared to Bisha, compared to the references, Saudi patients had a 15% shorter stay; admission to ICU increased LoS by 57%; patients who died during hospitalization had a 39% shorter LoS; the complications from COVID-19 of acute kidney injury and ARDS increased LoS by 22% and 48% respectively. Conclusion: After statistically controlling for confounders, this study reveals that LoS was significantly impacted by region in the SBU in the KSA. We recommend that further study be conducted to illuminate the underlying causes of this variation which may be organizational or structural to ensure high quality of care, access to care, and equity of resources throughout all regions of the SBU in accordance with the new Model of Care in Vision 2030.

4.
Int J Gen Med ; 15: 3573-3582, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35386862

RESUMO

Background: This is the first descriptive and comparative study conducted of COVID-19 inpatients from multi-centers in the four administrative southern regions and proposed Southern Business Unit (Jazan, Najran, Bisha, and Aseer) of the Kingdom of Saudi Arabia (KSA). Methods: Participants were 809 randomly selected patients admitted to the eight sampled hospitals with confirmed COVID-19 between March 2020 and February 2021. We assessed and compared socio-demographics, clinical characteristics, and clinical outcomes of the four regions. Results: Socio-demographic and clinical characteristics of the participants are a mean age of 60 ± 17.7 years, 70% Saudi male, the prevalence of diabetes (DM2) 58%, hypertension (HTN) 48%, obesity 43%, cardiac diseases 15%, and immunity or cancer diseases almost 1%. The prevalence of complications during admission were bacterial pneumonia 65%, acquired respiratory distress syndrome (ARDS) 32%, sepsis 20%, multi-organ failure 18%, acute kidney diseases 15%, and arrhythmia 4%. Clinical outcomes were: admitted to intensive care unit (ICU) 52%, mortality rate 25%, referred to other facilities 9%, and mean length of stay (LOS) was 11± 9.5 days. We observed statistically significant variation in many variables among the four regions. Najran and Aseer had a higher prevalence of risk factors for severity including age and comorbidities accompanied by higher rates of complications, ICU admissions, LOS, and mortality. Bisha and Jazan had lower prevalence of risk factors and LOS with lower rates of complications, ICU admissions, and mortality. Conclusion: This study reveals that the geographic region in which the patient was cared for was related to the severity and outcome of COVID-19 infection. Policy makers should search for solutions to regional differences in underlying health conditions such as DM2, HTN, and obesity to plan for improvements in preventive care as well as resource distribution to ensure quality for all Saudi citizens. This study will serve as guidance to begin to form strategies for these improvements as envisioned in the future New Model of Care.

5.
J Clin Immunol ; 38(3): 278-282, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29589181

RESUMO

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 Exoma
6.
P T ; 42(10): 641-651, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29018301

RESUMO

PURPOSE: In the last few decades, changes to formulary management processes have taken place in institutions with closed formulary systems. However, many P&T committees continued to operate using traditional paper-based systems. Paper-based systems have many limitations, including confidentiality, efficiency, open voting, and paper wastage. This becomes more challenging when dealing with a multisite P&T committee that handles formulary matters across the whole health care system. In this paper, we discuss the implementation of the first paperless, completely electronic, Web-based formulary management system across a large health care system in the Middle East. SUMMARY: We describe the transitioning of a multisite P&T committee in a large tertiary care institution from a paper-based to an all-electronic system. The challenges and limitations of running a multisite P&T committee utilizing a paper system are discussed. The design and development of a Web-based committee floor management application that can be used from notebooks, tablets, and hand-held devices is described. Implementation of a flexible, interactive, easy-to-use, and efficient electronic formulary management system is explained in detail. CONCLUSION: The development of an electronic P&T committee meeting system that encompasses electronic document sharing, voting, and communication could help multisite health care systems unify their formularies across multiple sites. Our experience might not be generalizable to all institutions because this depends heavily on system features, existing processes and workflow, and implementation across different sites.

7.
Int J Pediatr Adolesc Med ; 3(1): 38-42, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30805466

RESUMO

Respiratory syncytial virus (RSV) is a leading cause of serious seasonal lower respiratory tract infections (LRTI) in high-risk infants and children, with epidemics occurring annually in Saudi Arabia from October to March. Premature infants born at less than 29 weeks gestation with chronic lung disease or those with significant congenital heart disease who have RSV infection are more likely to be hospitalized and have increased morbidity and mortality. Palivizumab (Synagis®, Medimmune) is a humanized monoclonal antibody for the prevention of severe LRTI by RSV in high-risk children. The current use of Palivizumab in Saudi Arabia is not regulated and does not meet approved standards. This clinical practice policy statement was developed by the Ministry of Health and is supported by the National Immunization Technical Advisory Group (NITAG) in Saudi Arabia. It is based on available national and international data on the use of Palivizumab for the prevention of severe LRTI caused by RSV in high-risk pediatric patients. These guidelines were solicited and endorsed by two Saudi societies: The Neonatology and the Pediatric Infectious Diseases Societies.

8.
J Pediatric Infect Dis Soc ; 4(4): 313-22, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26582870

RESUMO

BACKGROUND: Invasive mold infections (IMIs) are a leading cause of mortality in immunocompromised children, yet there has never been an international epidemiologic investigation of pediatric IMIs. METHODS: This international, prospective cohort study was performed to characterize the epidemiology, antifungal therapy, and outcomes of pediatric IMIs. Children (≤18 years) with proven or probable IMIs were enrolled between August 2007 and May 2011 at 22 sites. Risk factors, underlying diagnoses, and treatments were recorded. Outcomes were assessed at 12 weeks after diagnosis using European Organization for Research and Treatment of Cancer/Mycoses Study Group response criteria. RESULTS: One hundred thirty-one pediatric patients with IMIs were enrolled; the most common IMI was invasive aspergillosis ([IA] 75%). Children with IA and those with other types of IMIs had similar underlying risk factors, except that children with IMIs caused by non-Aspergillus species were more likely to have received mold-active antifungal agents preceding diagnosis. The most commonly used antifungal classes after diagnosis were triazoles (82%) and polyenes (63%). Combination therapy was used in 53% of patients. Use of combination therapy was associated with an increased risk of adverse events (risk ratio, 1.98; 95% confidence interval, 1.06-3.68; P = .031), although there was no detectable difference in outcome. CONCLUSIONS: Although risk factors for IMIs are similar across specific subtypes, preceding antifungal therapy may be an important modifier. Combination antifungal therapy requires further study to determine its true risks and benefits.


Assuntos
Antifúngicos/uso terapêutico , Micoses/tratamento farmacológico , Micoses/epidemiologia , Adolescente , Aspergilose/tratamento farmacológico , Aspergilose/epidemiologia , Criança , Pré-Escolar , Feminino , Fungos , Humanos , Masculino , Estudos Prospectivos , Fatores de Risco , Resultado do Tratamento
9.
Int J Pediatr Adolesc Med ; 2(2): 89-95, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30805444

RESUMO

The Bacillus Calmette-Guérin (BCG) vaccine contains live attenuated Mycobacterium bovis; was first used in humans to prevent tuberculosis (TB) in 1921. The World Health Organization (WHO) established the Expanded Program on Immunization in 1974 to ensure that all children have access to routinely recommended vaccines including BCG. Each year 120 million doses of BCG vaccine are administered worldwide. Intradermal BCG vaccine gives rise to a classic primary complex that consists of a cutaneous nodule at the site of injection and subclinical involvement of the regional lymph nodes, which is self-limiting and requires no treatment. However, ipsilateral regional lymph node enlargement may follow BCG vaccine and is considered as the most common complication, some progress to suppuration. Rarely a disseminated BCG infection may develop in immunocompromised individuals resulting in a devastating outcome. Within the last decades, variable strategies have been applied in treating lymphadenitis related to BCG vaccine, ranging from observation, anti-mycobacterial therapy, aspiration, incision and drainage to lymph node surgical excision. We are presenting these guidelines that intended to optimize and standardize management of various types of BCG related lymph adenitis in children. They are based upon the best available evidence in literature beside our experience in this field.

10.
Int J Pediatr Adolesc Med ; 2(3-4): 141-146, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-30805453

RESUMO

BACKGROUND AND OBJECTIVES: The objective of this research is to improve compliance of the medication reconciliation process at the time of patient admission in the Department of Pediatrics at King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia using an innovative evidence-based approach. MATERIALS AND METHODS: Most of the recent efforts at our institution to revamp the medication reconciliation process have failed. Thus, we implemented an innovative evidence-based approach to improve the compliance of the reconciliation process at admission. This approach focused on the Department of Pediatrics at King Faisal Specialist Hospital and Research Centre (KFSH&RC). We established specific educational and monitoring programs that were run over a two-month period, from June to July 2015. The educational program consisted of focused hands-on daily interactive training sessions presented to a small group of residents, i.e., 5-6 residents per session, for a period of one week. One resident was identified as a "Super-User" to provide ongoing support for the other residents involved in the process. A close monitoring process was also implemented, which included daily follow up and encouragement from three assigned consultants. In addition, periodic independent audit report results prepared by Healthcare Information Technology Affairs (HITA) were communicated to the Department of Pediatrics regarding physician compliance in the medication reconciliation process. RESULTS: Physician compliance for admission medication reconciliation documentation in ICIS ranged from (0-15%) between the first quarter of 2012 and the first quarter 2015, we designated the official hospital audit for the first quarter of 2015 as a baseline audit report. Between the first quarter of 2012 and 2015, the physician compliance for admission medication reconciliation was ranged between 0 to 15% according to the official hospital audit. We implemented our initiative during the months of June and July 2015. During that time, there was a gradual improvement in the number of admission medication reconciliations reported by the independent audits of our general Pediatrics Ward (B1), which represents the majority of pediatric admissions. The 57% of 26 patients had medication reconciliation completed by the first report dated 16 June 2015. This percentage improved to 92% out of a total of 13 patients at the last report on 12 July 2015. This consistent improvement also occurred in other areas where pediatric patients were admitted including the B3-1 (from 88% to 90%), the NICU 1 (from 83% to 100%) and the NICU 2 (from 90% to 100%). CONCLUSIONS: By structuring and implementing intensive educational and monitoring programs, a marked improvement in the compliance of medication reconciliation at the time of admission for the pediatric patient population was achieved. We believe that our department-based results would be generalizable if a similar hospital-wide programme was to be rigorously implemented.

11.
Ann Saudi Med ; 33(5): 500-4, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24188947

RESUMO

Gastrointestinal basidiobolomycosis (GIB) is an unusual fungal infection that manifests in the skin and rarely involves other systems. All of the few cases of GIB reported so far were diagnosed with difficulty, necessitating laparotomy and resection of the inflamed part of the bowel. We report a child with GIB who was successfully diagnosed endoscopically without surgical intervention.


Assuntos
Doença de Crohn/diagnóstico , Gastroenteropatias/diagnóstico , Zigomicose/diagnóstico , Pré-Escolar , Endoscopia Gastrointestinal/métodos , Entomophthorales/isolamento & purificação , Gastroenteropatias/microbiologia , Gastroenteropatias/patologia , Humanos , Masculino , Zigomicose/microbiologia , Zigomicose/patologia
12.
Medicine (Baltimore) ; 92(2): 109-122, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23429356

RESUMO

Autosomal recessive interleukin (IL)-12 p40 (IL-12p40) deficiency is a rare genetic etiology of mendelian susceptibility to mycobacterial disease (MSMD). We report the genetic, immunologic, and clinical features of 49 patients from 30 kindreds originating from 5 countries (India, Iran, Pakistan, Saudi Arabia, and Tunisia). There are only 9 different mutant alleles of the IL12B gene: 2 small insertions, 3 small deletions, 2 splice site mutations, and 1 large deletion, each causing a frameshift and leading to a premature stop codon, and 1 nonsense mutation. Four of these 9 variants are recurrent, affecting 25 of the 30 reported kindreds, due to founder effects in specific countries. All patients are homozygous and display complete IL-12p40 deficiency. As a result, the patients lack detectable IL-12p70 and IL-12p40 and have low levels of interferon gamma (IFN-γ). The clinical features are characterized by childhood onset of bacille Calmette-Guérin (attenuated Mycobacterium bovis strain) (BCG) and Salmonella infections, with recurrences of salmonellosis (36.4%) more common than recurrences of mycobacterial disease (25%). BCG vaccination led to BCG disease in 40 of the 41 patients vaccinated (97.5%). Multiple mycobacterial infections were rare, observed in only 3 patients, whereas the association of salmonellosis and mycobacteriosis was observed in 9 patients. A few other infections were diagnosed, including chronic mucocutaneous candidiasis (n = 3), nocardiosis (n = 2), and klebsiellosis (n = 1). IL-12p40 deficiency has a high but incomplete clinical penetrance, with 33.3% of genetically affected relatives of index cases showing no symptoms. However, the prognosis is poor, with mortality rates of up to 28.6%. Overall, the clinical phenotype of IL-12p40 deficiency closely resembles that of interleukin 12 receptor ß1 (IL-12Rß1) deficiency. In conclusion, IL-12p40 deficiency is more common than initially thought and should be considered worldwide in patients with MSMD and other intramacrophagic infectious diseases, salmonellosis in particular.


Assuntos
Subunidade p40 da Interleucina-12/deficiência , Subunidade p40 da Interleucina-12/genética , Infecções por Mycobacterium não Tuberculosas/genética , Infecções por Salmonella/genética , Adolescente , Adulto , Idade de Início , Ásia Ocidental/epidemiologia , Criança , Pré-Escolar , Estudos de Coortes , Análise Mutacional de DNA , Feminino , Efeito Fundador , Predisposição Genética para Doença , Humanos , Lactente , Masculino , Infecções por Mycobacterium não Tuberculosas/imunologia , Infecções por Mycobacterium não Tuberculosas/mortalidade , Penetrância , Análise de Sobrevida , Tunísia/epidemiologia , Adulto Jovem
13.
Pediatr Infect Dis J ; 31(12): 1252-7, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22982980

RESUMO

BACKGROUND: Candida species are the third most common cause of pediatric health care-associated bloodstream infection in the United States and Europe. To our knowledge, this report from the International Pediatric Fungal Network is the largest prospective, multicenter observational study dedicated to pediatric and neonatal invasive candidiasis. METHODS: From 2007 to 2011, we enrolled 196 pediatric and 25 neonatal patients with invasive candidiasis. RESULTS: Non-albicans Candida species predominated in pediatric (56%) and neonatal (52%) age groups, yet Candida albicans was the most common species in both groups. Successful treatment responses were observed in pediatric (76%) and neonatal patients (92%). Infection with Candida parapsilosis led to successful responses in pediatric (92%) and neonatal (100%) patients, whereas infection with Candida glabrata was associated with a lower successful outcome in pediatric patients (55%). The most commonly used primary antifungal therapies for pediatric invasive candidiasis were fluconazole (21%), liposomal amphotericin B (20%) and micafungin (18%). Outcome of pediatric invasive candidiasis was similar in response to polyenes (73%), triazoles (67%) and echinocandins (73%). The most commonly used primary antifungal therapies for neonatal invasive candidiasis were fluconazole (32%), caspofungin (24%) and liposomal amphotericin B (16%) and micafungin (8%). Outcomes of neonatal candidiasis by antifungal class again revealed similar response rates among the classes. CONCLUSIONS: We found a predominance of non-albicans Candida infection in children and similar outcomes based on antifungal class used. This international collaborative study sets the foundation for large epidemiologic studies focusing on the unique features of neonatal and pediatric candidiasis and comparative studies of therapeutic interventions in these populations.


Assuntos
Candida/isolamento & purificação , Candidíase Invasiva/epidemiologia , Adolescente , Antifúngicos/administração & dosagem , Candida/classificação , Candidíase Invasiva/tratamento farmacológico , Candidíase Invasiva/microbiologia , Criança , Pré-Escolar , Estudos Epidemiológicos , Europa (Continente)/epidemiologia , Feminino , Humanos , Lactente , Recém-Nascido , Cooperação Internacional , Masculino , Estudos Prospectivos , Resultado do Tratamento , Estados Unidos/epidemiologia
14.
J Pediatr Surg ; 47(5): 949-51, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22595579

RESUMO

INTRODUCTION: Gastrointestinal basidiobolomycosis (GIB) is a rare fungal disease. We reviewed our experience with this disease over the last 10 years, with special emphasis on the surgical aspects. METHODS: A retrospective chart review was conducted for pediatric patients with GIB who were managed at our institution over the last 10 years. Demographic, clinical, and follow-up data were collected, and descriptive data were generated. RESULTS: Nine patients with a median age of 7 years were managed for GIB over the study period. Six patients were managed surgically. Four had colonic and liver involvement, 1 had a left hepatic lesion, and 1 had a porta hepatic mass. One patient had multiple liver lesions and was managed medically, and 2 patients had disseminated disease and died shortly after presentation. Tissue biopsies confirmed the diagnosis, and all received antifungal treatment. Patients were followed up for a median of 6 years. All live patients are free of disease, and 4 are still on antifungal medications. CONCLUSIONS: Gastrointestinal basidiobolomycosis is an aggressive disease that requires early surgical intervention to avoid complications and hasten disease eradication. Long-term follow-up is warranted, given the significant potential for complications.


Assuntos
Colectomia , Doenças do Colo/cirurgia , Entomophthorales , Hepatectomia , Hepatopatias/cirurgia , Zigomicose/cirurgia , Antifúngicos/uso terapêutico , Criança , Pré-Escolar , Doenças do Colo/tratamento farmacológico , Doenças do Colo/microbiologia , Doenças do Colo/mortalidade , Terapia Combinada , Feminino , Seguimentos , Humanos , Itraconazol/uso terapêutico , Hepatopatias/tratamento farmacológico , Hepatopatias/microbiologia , Hepatopatias/mortalidade , Masculino , Estudos Retrospectivos , Resultado do Tratamento , Zigomicose/tratamento farmacológico , Zigomicose/mortalidade
15.
Pediatr Infect Dis J ; 31(2): 204-6, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22138680

RESUMO

Disseminated cryptococcal infection is the second most common cause of death after tuberculosis in acquired immune deficiency syndrome patients. Surprisingly, it has been reported only in few patients with primary immunodeficiency diseases. Herein, we report the clinical presentation and outcome of a 23-month-old boy with novel JAK3 mutation severe combined immunodeficiency disease complicated by severe disseminated cryptococcal infection.


Assuntos
Criptococose/diagnóstico , Criptococose/patologia , Janus Quinase 3/deficiência , Imunodeficiência Combinada Severa/complicações , Transplante de Células-Tronco , Humanos , Lactente , Janus Quinase 3/genética , Masculino , Imunodeficiência Combinada Severa/genética , Resultado do Tratamento
16.
Ann Saudi Med ; 31(3): 311-3, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21242641

RESUMO

We report the case of a child who presented with a subcutaneous mass on the left side of the chest wall of one month's duration. The mass was painful and increasing in size over time. He had a history of weight loss and a decrease in appetite, but no history of fever or trauma. He had ingested raw camel milk, but had no history of contact with animals. He was diagnosed by the standard tube agglutination titer and tissue culture for brucellosis, treated with surgery and three months of antibrucella antibiotics. The report includes a brief review of the current pediatric literature to familiarize pediatricians with this uncommon presentation.


Assuntos
Brucelose/patologia , Leite/microbiologia , Parede Torácica/patologia , Testes de Aglutinação , Animais , Antibacterianos/uso terapêutico , Apetite , Brucelose/diagnóstico , Brucelose/terapia , Camelus , Criança , Humanos , Masculino , Redução de Peso
17.
Clin Dev Immunol ; 2010: 586342, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-21197407

RESUMO

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). Terminal 4q deletion is also a rare cytogenetic abnormality that causes a variable syndrome of dysmorphic features, mental retardation, growth retardation, and heart and limb defects. We report a 12-year-old Saudi boy with mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical failure consistent with APECED. In addition, he has dysmorphic facial features, growth retardation, and severe global developmental delay. Patient had late development of chronic renal failure. The blastogenesis revealed depressed lymphocytes' response to Candida albicans at 38% when compared to control. Chromosome analysis of the patient revealed 46,XY,del(4)(q33). FISH using a 4p/4q subtelomere DNA probe assay confirmed the deletion of qter subtelomere on chromosome 4. Parental chromosomes were normal. The deleted array was further defined using array CGH. AIRE full gene sequencing revealed a homozygous mutation namely 845_846insC. Renal biopsy revealed chronic interstitial nephritis with advanced fibrosis. In addition, there was mesangial deposition of C3, C1q, and IgM. This is, to the best of our knowledge, the first paper showing evidence of autoimmune nephropathy by renal immunofluorescence in a patient with APECED and terminal 4q deletion.


Assuntos
Insuficiência Renal Crônica/genética , Fatores de Transcrição/genética , Anormalidades Múltiplas , Doença de Addison/genética , Candidíase Mucocutânea Crônica/genética , Criança , Deleção Cromossômica , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 4/genética , Hibridização Genômica Comparativa , Consanguinidade , Humanos , Hipoparatireoidismo/genética , Hibridização in Situ Fluorescente , Masculino , Mutação , Poliendocrinopatias Autoimunes/complicações , Poliendocrinopatias Autoimunes/genética , Poliendocrinopatias Autoimunes/patologia , Arábia Saudita , Proteína AIRE
18.
Pediatr Infect Dis J ; 26(5): 456-8, 2007 May.
Artigo em Inglês | MEDLINE | ID: mdl-17468664

RESUMO

The majority of fungal infections are caused by species such as Candida and Aspergillus. Other rare and emerging opportunistic fungal infections are on the increase. Risk factors for such infections include receipt of antimicrobial agents, chemotherapy, immunosuppression secondary to hematopoietic stem cell or solid organ transplantation, neutropenia, presence of indwelling intravascular catheter, prior hemodialysis, or previous fungal colonization. We present here the first 2 reports of fatal and invasive Chaetomium infections in pediatric patients. The first case occurred in a child with acute myeloid leukemia (AML) and the other in a child with hemophagocytic syndrome (HSP).


Assuntos
Chaetomium/isolamento & purificação , Micoses/etiologia , Antifúngicos/uso terapêutico , Criança , Humanos , Hospedeiro Imunocomprometido , Lactente , Masculino , Micoses/tratamento farmacológico
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