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1.
Vaccines (Basel) ; 11(3)2023 Mar 20.
Artículo en Inglés | MEDLINE | ID: mdl-36992286

RESUMEN

Presence of a large foreign workforce and the annual gathering of people for pilgrimage from around the globe have significantly contributed to the emergence and diversity of respiratory viruses in Saudi Arabia. Here, we report the sequence and phylogenetic analysis of the H3N2 subtype of influenza A virus (IAV) in clinical samples collected from Riyadh, Saudi Arabia. Based on RT-PCR, IAV was found in 88 (28.3%) of the 311 samples screened. Of the 88-IAV positive samples, 43 (48.8%) were H1N1 subtype while the remaining 45 (51.2%) were found to be of the H3N2 subtype. Complete sequencing of HA and NA genes of H3N2 revealed, twelve and nine amino acid (AA) substitutions respectively, and importantly, these variations are absent in the current vaccine strains. Based on the phylogenetic analysis, the majority of H3N2 strains were grouped in the same clades as the vaccine strains. Importantly, the N-glycosylation sites at AA 135(NSS) were found to be unique to 6 strains in the investigated HA1 protein and were absent in the current vaccine strains. These data may have significant clinical implications in designing novel and population-based vaccines for IAV and underscore the need for regular monitoring of efficacy of vaccines due to emerging variants.

2.
Genes (Basel) ; 13(12)2022 12 05.
Artículo en Inglés | MEDLINE | ID: mdl-36553555

RESUMEN

Human orthopneumovirus (HOPV) is the major viral pathogen responsible for lower respiratory tract infections (LRTIs) in infants and young children in Riyadh, Saudi Arabia. Yet, predominant HOPV subtypes circulating in this region and their molecular and epidemiological characteristics are not fully ascertained. A total of 300 clinical samples involving nasopharyngeal aspirates (NPAs), throat swabs, and sputum were collected during winter seasons of 2019/2020 and 2021/2022 for HOPV subtyping and genotyping. Of the 300 samples, HOPV was identified in 55 samples (18.3%) with a distinct predominance of type A viruses (81.8%) compared to type B viruses (18.2%). Importantly, the ON1 strain of HOPV-A and BA-IX strain of HOPV-B groups were found to be responsible for all the infections. Sequence analysis revealed a duplication region within 2nd HVR of G protein gene of ON1 and BA-IX strains. This nucleotide duplication exerted a profound effect on protein length and affinity towards cell receptors. Further, these modifications may aid the HOPV in immune evasion and recurrent infections. Data from this study showed that ON-1 genotype of HOPV-A and BA-IX genotype of HOPV-B were dominant in Riyadh, Saudi Arabia. Further, a duplication of sequence within 2nd HVR of G protein gene was found.


Asunto(s)
Infecciones por Virus Sincitial Respiratorio , Virus Sincitial Respiratorio Humano , Humanos , Genotipo , Proteínas de Unión al GTP/genética , Filogenia , Infecciones por Virus Sincitial Respiratorio/epidemiología , Infecciones por Virus Sincitial Respiratorio/virología , Virus Sincitial Respiratorio Humano/genética , Arabia Saudita/epidemiología
3.
Saudi Med J ; 43(4): 329-340, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35414610

RESUMEN

In Saudi Arabia, the prevalence of pediatric asthma ranges between 8% and 25%. However, there are no sufficient data regarding severe asthma in childhood in Saudi Arabia. Therefore, a task force has been formed by the Saudi Pediatric Pulmonology Association which is a subsidiary group of the Saudi Thoracic Society and consists of Saudi experts with well-respected academic and clinical backgrounds in the fields of pediatric asthma as well as other respiratory diseases to write a consensus on definitions, phenotypes, and pathophysiology, evaluation, and management. To achieve this, the subject was divided into various sections, each of which was assigned to at least 2 experts. Without a central literature review, the authors searched the literature using their own strategies. To reach an agreement, the entire panel reviewed and voted on proposed findings and recommendations.


Asunto(s)
Asma , Neumología , Comités Consultivos , Asma/diagnóstico , Asma/epidemiología , Asma/etiología , Niño , Humanos , Prevalencia , Arabia Saudita/epidemiología
4.
Ann Thorac Med ; 16(2): 188-218, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34012486

RESUMEN

The Saudi Pediatric Pulmonology Association (SPPA) is a subsidiary of the Saudi Thoracic Society (STS), which consists of a group of Saudi experts with well-respected academic and clinical backgrounds in the fields of asthma and other respiratory diseases. The SPPA Expert Panel realized the need to draw up a clear, simple to understand, and easy to use guidance regarding the application of different aerosol therapies in respiratory diseases in children, due to the high prevalence and high economic burden of these diseases in Saudi Arabia. This statement was developed based on the available literature, new evidence, and experts' practice to come up with such consensuses about the usage of different aerosol therapies for the management of respiratory diseases in children (asthma and nonasthma) in different patient settings, including outpatient, emergency room, intensive care unit, and inpatient settings. For this purpose, SPPA has initiated and formed a national committee which consists of experts from concerned specialties (pediatric pulmonology, pediatric emergency, clinical pharmacology, pediatric respiratory therapy, as well as pediatric and neonatal intensive care). These committee members are from different healthcare sectors in Saudi Arabia (Ministry of Health, Ministry of Defence, Ministry of Education, and private healthcare sector). In addition to that, this committee is representing different regions in Saudi Arabia (Eastern, Central, and Western region). The subject was divided into several topics which were then assigned to at least two experts. The authors searched the literature according to their own strategies without central literature review. To achieve consensus, draft reports and recommendations were reviewed and voted on by the whole panel.

5.
Saudi Med J ; 42(4): 384-390, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33795493

RESUMEN

OBJECTIVES: To measure the Saudi population's sleep quality during the lockdown of COVID-19. METHODS: An internet-based questionnaire that was performed during the lockdown of the COVID-19 pandemic among the Saudi population over 2 weeks from April 1 to April 15, 2020. We used the instant messaging application WhatsApp and Twitter to reach the targeted population. Saudi citizens and non-Saudi residents who can read and understand the questionnaire were recruited. Data were analyzed using Stata and SPSS. RESULTS: A total of 790 responses were included. The majority of participants were the Saudi population 735 (92.9%). The prevalence of insomnia and poor sleep quality were 54.4% and 55.5%, respectively. Saudi citizenship was associated with longer sleep duration (p=0.031). Female gender and being married were associated with worse global PSQI, sleep quality, sleep distribution, sleep latency, and daytime dysfunction. CONCLUSION: Our findings showed that during the COVID-19 pandemic, the Saudi population had a high prevalence of insomnia and poor sleep quality. Routine monitoring of the psychological impact of life-threatening outbreaks and the adoption of effective early mental health actions should be considered.


Asunto(s)
COVID-19 , Trastornos de Somnolencia Excesiva/epidemiología , Trastornos del Inicio y del Mantenimiento del Sueño/epidemiología , Sueño , Adulto , Control de Enfermedades Transmisibles , Estudios Transversales , Escolaridad , Femenino , Humanos , Masculino , Estado Civil/estadística & datos numéricos , Persona de Mediana Edad , Prevalencia , Política Pública , Factores de Riesgo , SARS-CoV-2 , Arabia Saudita/epidemiología , Factores Sexuales , Latencia del Sueño , Encuestas y Cuestionarios , Desempleo/estadística & datos numéricos
6.
Pediatr Pulmonol ; 55(11): 2901-2907, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32897645

RESUMEN

BACKGROUND: Appropriate asthma management in children reduces emergency department visits, hospitalization, and improves the quality of life. We aim to assess the level of children asthma control and its association with parental knowledge. METHODS: A prospective study conducted to measure childhood asthma control with a validated childhood asthma control test (C-ACT), and to assess asthma knowledge among the parents of children aged 4-11 years and their parents upon asthma clinic visits. C-ACT score ≤ 19 is considered as uncontrolled child asthma. RESULTS: We have invited 238 parents to participate in the study; 177 (74.4%) completed the survey. The mean age of the parents and their children were 38.8 ± 7.6 and 7.8 ± 2.7 years, respectively; 28.2% of parents were smokers, and 46.3% of them were college graduated. Nearly 61.6% of the parents and children scored ≤ 19 on C-ACT; 54.2% and 37.9% of parents knew how inhaled salbutamol and corticosteroids work, respectively. A quarter of the parents received an asthma action plan. Multinomial logistic regression analysis showed that parents who did not know their children's medications name (OR, 6.1; 95% CI, 2.15-17.29), and when to use inhaled corticosteroid (OR, 2.1; 95% CI, 1.32-3.45) were independent factors predicting uncontrolled asthma in children with score ≤ 19. CONCLUSIONS: The study indicated that there is an association between poor asthma control (scored ≤ 19 on C-ACT) and parental knowledge of asthma medications. The parents should be educated thoroughly on asthma care, including medications used to minimize asthma exacerbations in their children.


Asunto(s)
Asma/tratamiento farmacológico , Conocimientos, Actitudes y Práctica en Salud , Padres/psicología , Corticoesteroides/uso terapéutico , Adulto , Albuterol/uso terapéutico , Niño , Preescolar , Femenino , Educación en Salud , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Calidad de Vida , Arabia Saudita , Encuestas y Cuestionarios
7.
Hum Genet ; 139(10): 1273-1283, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32367404

RESUMEN

Unlike disorders of primary cilium, primary ciliary dyskinesia (PCD) has a much narrower clinical spectrum consistent with the limited tissue distribution of motile cilia. Nonetheless, PCD diagnosis can be challenging due to the overlapping features with other disorders and the requirement for sophisticated tests that are only available in specialized centers. We performed exome sequencing on all patients with a clinical suspicion of PCD but for whom no nasal nitric oxide test or ciliary functional assessment could be ordered. Among 81 patients (56 families), in whom PCD was suspected, 68% had pathogenic or likely pathogenic variants in established PCD-related genes that fully explain the phenotype (20 variants in 11 genes). The major clinical presentations were sinopulmonary infections (SPI) (n = 58), neonatal respiratory distress (NRD) (n = 2), laterality defect (LD) (n = 6), and combined LD/SPI (n = 15). Biallelic likely deleterious variants were also encountered in AKNA and GOLGA3, which we propose as novel candidates in a lung phenotype that overlaps clinically with PCD. We also encountered a PCD phenocopy caused by a pathogenic variant in ITCH, and a pathogenic variant in CEP164 causing Bardet-Biedl syndrome and PCD presentation as a very rare example of the dual presentation of these two disorders of the primary and motile cilia. Exome sequencing is a powerful tool that can help "democratize" the diagnosis of PCD, which is currently limited to highly specialized centers.


Asunto(s)
Cilios/metabolismo , Trastornos de la Motilidad Ciliar/genética , Predisposición Genética a la Enfermedad , Neumonía/genética , Síndrome de Dificultad Respiratoria del Recién Nacido/genética , Sinusitis/genética , Autoantígenos/genética , Cilios/patología , Trastornos de la Motilidad Ciliar/complicaciones , Trastornos de la Motilidad Ciliar/diagnóstico , Trastornos de la Motilidad Ciliar/patología , Consanguinidad , Proteínas de Unión al ADN/genética , Femenino , Expresión Génica , Proteínas de la Matriz de Golgi/genética , Humanos , Masculino , Proteínas de Microtúbulos/genética , Mutación , Proteínas Nucleares/genética , Linaje , Fenotipo , Neumonía/complicaciones , Neumonía/diagnóstico , Neumonía/patología , Proteínas Represoras/genética , Síndrome de Dificultad Respiratoria del Recién Nacido/complicaciones , Síndrome de Dificultad Respiratoria del Recién Nacido/diagnóstico , Síndrome de Dificultad Respiratoria del Recién Nacido/patología , Mucosa Respiratoria/metabolismo , Mucosa Respiratoria/patología , Arabia Saudita , Sinusitis/complicaciones , Sinusitis/diagnóstico , Sinusitis/patología , Factores de Transcripción/genética , Ubiquitina-Proteína Ligasas/genética , Secuenciación del Exoma
8.
Saudi J Biol Sci ; 27(1): 242-246, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31889843

RESUMEN

Consanguineous or cousin marriages are very common in Saudi Arabia. However, owing to limited studies and insufficient knowledge about genetic diseases/disorders, many couples are unaware of the increased health risks for their offspring. Among the inherited and complex diseases from parents' consanguinity, obesity is common; therefore, we examined the prevalence of obesity in the offspring of first-cousin consanguineous couples in Saudi Arabia. In this questionnaire-based study, 657 individuals (mean age = 18.7 ±â€¯10.2 years; age range = 2-65 years) who were residing in Riyadh, Saudi Arabia participated. Among them, almost 90% were native Saudis. Participants mean body mass index (BMI) was 24.5 ±â€¯9.1 kg/m2. Sex- stratified demographic details confirmed a significant association between age and BMI (p < .001). We confirmed that adolescents and adults were more prone to develop obesity. Adults and non-Saudi participants were three times more likely to develop obesity if they had first-cousin consanguineous parents than those who did not. Of the 30% of participants who were obese, 100 will be selected for Phase II, in which we plan to perform exome sequencing.

9.
Infect Genet Evol ; 79: 104153, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-31881360

RESUMEN

Respiratory syncytial virus is a leading cause of acute respiratory tract infection (ARI) in children worldwide. Limited information is available on molecular epidemiology of respiratory syncytial virus (RSV) from Saudi Arabia. An attempt was made to identify and characterize RSV strains in nasopharyngeal aspirates collected from hospitalized symptomatic ARI pediatric patients with <5 years of age from Riyadh, Saudi Arabia during 2016. All the samples (n = 100) were tested for RSV by real time PCR. The RSV strains were characterized by sequencing of the second hypervariable region of G protein gene. The study sequences along with the previously reported strains from Saudi Arabia were assessed for mutational, glycosylation, phylogenetic, selection pressure and entropy analyses. Fifty percent of the nasopharyngeal aspirates were positive for RSV. The RSVA (72%) predominated as compared to RSVB (24%) during the study. The study RSVA strains (n = 29) clustered into NA1 and ON1 genotypes whereas all the RSVB sequences (n = 5) were in BA genotype by phylogenetic analysis. Interestingly, 97% of RSVA sequences (n =28) clustered into ON1 genotype with 72 bp duplication in the G protein gene. Numerous mutations, variable N-/O-glycosylation sites and purifying selections were observed in the ON1 genotype. Positive selection with high entropy value was observed for three codons in ON1 (247, 262 and 274 amino acids) indicating higher probability of variations at these positions. Our study shows the progressive emergence and predominance of the ON1 genotype in Riyadh, Saudi Arabia during 2008-16. ON1 genotype almost replaced the previously circulating RSVA strains in this region during this period. Contribution of host genetic and immune factors towards disease severity of the ON1 genotype needs to be investigated in future studies. RSV surveillance in future elaborate investigations are needed in this region to understand its disease burden, evolutionary trajectory and circulation dynamics warranting steps towards vaccine development.


Asunto(s)
Técnicas de Genotipaje/métodos , Mutación , Infecciones por Virus Sincitial Respiratorio/virología , Virus Sincitial Respiratorio Humano/clasificación , Preescolar , Entropía , Evolución Molecular , Femenino , Genotipo , Humanos , Lactante , Recién Nacido , Masculino , Filogenia , Infecciones por Virus Sincitial Respiratorio/epidemiología , Virus Sincitial Respiratorio Humano/genética , Arabia Saudita/epidemiología , Selección Genética
10.
Saudi Med J ; 40(12): 1242-1250, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31828276

RESUMEN

OBJECTIVES: To assess the prevalence of vaccine hesitancy and its determinants among Saudi parents. In addition, we explored the relationship between vaccine hesitancy and child's immunization status. Methods: A cross-sectional study was conducted using interviews with parents visiting outpatient clinics at King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia, between July 2017 and October 2018. The strategic advisory group of experts on immunization vaccine hesitancy survey was used. Results: A total of 500 parents were interviewed. Twenty percent of parents were hesitant to get their child vaccinated. Parents with higher educational levels were more vaccine hesitant (p less than 0.001). Among parents who reported hesitancy toward vaccination, 36% of children were not vaccinated fully for their age. Concerns related to vaccine safety were the most frequent reason (53%) reported by vaccine-hesitant parents. Negative beliefs toward vaccination seemed to be associated with increase hesitancy and incomplete vaccination status of children. In multivariate analyses, the main factors associated with both parents' hesitancy and incomplete vaccination status were believing that vaccines are ineffective (adjusted odds ratio [AOR]=28, 95% confidence interval [CI]: 7.9-102.3) and believing that vaccines are not important (AOR=27, 95% CI: 5.8-126). Conclusion: Vaccine hesitancy among parents in Kingdom of Saudi Arabia is a concern and is likely to influence the vaccination status of their children. Countering vaccine related concerns must be tailored, particularly in higher-educated groups.


Asunto(s)
Padres/psicología , Vacunación/psicología , Adulto , Niño , Preescolar , Estudios Transversales , Humanos , Arabia Saudita
11.
Saudi Med J ; 38(12): 1196-1200, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-29209667

RESUMEN

OBJECTIVES: To assess the number of Saudi patients diagnosed with narcolepsy in 2 tertiary centers before and after the introduction of the 2009 A(H1N1)pdm09 vaccine.  Methods: We started collecting data after the first international report of an association between the A(H1N1)pdm09 vaccine and narcolepsy between January 2010 and December 2016. All patients diagnosed with narcolepsy after 2009 were included and data were collected for 7 years to account for any possible delays in the diagnosis of narcolepsy.  Results: One-hundred and seventy-three patients with narcolepsy were identified. The majority (144 patients, 83%) had symptom onset before June 2009. Only 29 patients (17%) had symptom onset after 2009. No difference in the annual number of narcolepsy cases was found  before and after 2009. Conclusion: Based on data obtained from 2 tertiary care sleep disorders center, there was no increase in the number of cases of narcolepsy among Saudis following the introduction of the influenza A(H1N1)pdm09 vaccination.


Asunto(s)
Subtipo H1N1 del Virus de la Influenza A/inmunología , Vacunas contra la Influenza/efectos adversos , Narcolepsia/inducido químicamente , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Derivación y Consulta , Arabia Saudita
12.
J Taibah Univ Med Sci ; 12(4): 356-359, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-31435263

RESUMEN

Mycoplasma pneumoniae-associated mucositis (MPAM) is an extra-pulmonary manifestation of M. pneumoniae infection and may present as isolated mucosal lesions (e.g., ocular, oral, and urogenital) or as a combination of mucosal and minimal cutaneous lesions. MPAM is a rare entity that lies on the spectrum of erythema multiform (EM) major and Stevens-Johnson syndrome (SJS). We present a 12-year-old boy who presented with classical clinical manifestations of MPAM and strongly positive M. pneumoniae PCR results. The patient was treated with antimicrobial therapy and had an uneventful recovery. Physicians should be aware of this rare entity and manage patients accordingly.

13.
PLoS One ; 11(11): e0166145, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27835664

RESUMEN

Respiratory syncytial virus (RSV) is an important viral pathogen of acute respiratory tract infection (ARI). Limited data are available on molecular epidemiology of RSV from Saudi Arabia. A total of 130 nasopharyngeal aspirates were collected from children less than 5 years of age with ARI symptoms attending the Emergency Department at King Khalid University Hospital and King Fahad Medical City, Riyadh, Saudi Arabia between October and December, 2014. RSV was identified in the 26% of the hospitalized children by reverse transcriptase PCR. Group A RSV (77%) predominated during the study as compared to group B RSV (23%). The phylogenetic analysis of 28 study strains clustered group A RSV in NA1 and ON1 genotypes and group B viruses in BA (BA9) genotype. Interestingly, 26% of the positive samples clustered in genotypes with duplication in the G protein gene (ON1 for group A and BA for group B). Both the genotypes showed enhanced O-linked glycosylation in the duplicated region, with 10 and 2 additional sites in ON1 and BA respectively. Selection pressure analysis revealed purifying selection in both the ON1 and BA genotypes. One codon each in the ON1 (position 274) and BA genotypes (position 219) were positively selected and had high entropy values indicating variations at these amino acid positions. This is the first report describing the presence of ON1 genotype and the first report on co-circulation of two different genotypes of RSV with duplication in the G protein gene from Saudi Arabia. The clinical implications of the simultaneous occurrence of genotypes with duplication in G protein gene in a given population especially in the concurrent infections should be investigated in future. Further, the ongoing surveillance of RSV in this region will reveal the evolutionary trajectory of these two genotypes with duplication in G protein gene from largest country in the Middle East.


Asunto(s)
Duplicación de Gen , Infecciones por Virus Sincitial Respiratorio/epidemiología , Virus Sincitial Respiratorio Humano/genética , Infecciones del Sistema Respiratorio/epidemiología , Proteínas del Envoltorio Viral/genética , Preescolar , ADN Complementario/química , ADN Complementario/genética , Femenino , Genotipo , Interacciones Huésped-Patógeno , Humanos , Lactante , Recién Nacido , Masculino , Mutación , Filogenia , ARN Viral/genética , Infecciones por Virus Sincitial Respiratorio/virología , Virus Sincitial Respiratorio Humano/clasificación , Virus Sincitial Respiratorio Humano/fisiología , Infecciones del Sistema Respiratorio/virología , Arabia Saudita/epidemiología , Análisis de Secuencia de ADN , Proteínas del Envoltorio Viral/clasificación
14.
J Med Virol ; 88(6): 1086-91, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-26595650

RESUMEN

Respiratory tract infections are a principal cause of illness and mortality in children worldwide and mostly caused by viruses. In this study, the epidemiology of 11 respiratory RNA viruses was investigated in a cohort of hospitalized children at a tertiary referral center in Riyadh from February 2008 to March 2009 using conventional and real-time monoplex RT-PCR assays. Among 174 nasopharyngeal aspirates, respiratory syncytial virus (RSV) was detected in 39 samples (22.41%), influenza A virus in 34 (19.54%), metapneumovirus (MPV) in 19 (10.92%), coronaviruses in 14 (8.05%), and parainfluenza viruses (PIVs) in 11 (6.32%). RSV, PIVs and coronaviruses were most prevalent in infants less than 6 months old, whereas MPV and influenza A virus were more prominent in children aged 7-24 and 25-60 months, respectively. The majority of the viruses were identified during winter with two peaks observed in March 2008 and January 2009. The presented data warrants further investigation to understand the epidemiology of respiratory viruses in Saudi Arabia on spatial and temporal basis.


Asunto(s)
Niño Hospitalizado , Infecciones por Virus ARN/epidemiología , Infecciones por Virus ARN/virología , Infecciones del Sistema Respiratorio/epidemiología , Infecciones del Sistema Respiratorio/virología , Preescolar , Coronavirus/genética , Coronavirus/aislamiento & purificación , Estudios Transversales , Femenino , Humanos , Lactante , Recién Nacido , Virus de la Influenza A/genética , Virus de la Influenza A/aislamiento & purificación , Masculino , Metapneumovirus/genética , Metapneumovirus/aislamiento & purificación , Nasofaringe/virología , Virus de la Parainfluenza 1 Humana/genética , Virus de la Parainfluenza 1 Humana/aislamiento & purificación , Virus Sincitial Respiratorio Humano/genética , Arabia Saudita/epidemiología , Estaciones del Año
15.
PLoS One ; 10(3): e0121351, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25799584

RESUMEN

Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by severe early onset periodontitis and palmoplantar hyperkeratosis. A previously reported missense mutation in the CTSC gene (NM_001814.4:c.899G>A:p.(G300D)) was identified in a homozygous state in two siblings diagnosed with PLS in a consanguineous family of Arabic ancestry. The variant was initially identified in a heterozygous state in a PLS unaffected sibling whose whole exome had been sequenced as part of a previous Primary ciliary dyskinesia study. Using this information, a proxy molecular diagnosis was made on the PLS affected siblings after consent was given to study this second disorder found to be segregating within the family. The prevalence of the mutation was then assayed in the local population using a representative sample of 256 unrelated individuals. The variant was absent in all subjects indicating that the variant is rare in Saudi Arabia. This family study illustrates how whole-exome sequencing can generate findings and inferences beyond its primary goal.


Asunto(s)
Catepsina C/genética , Mutación Missense , Enfermedad de Papillon-Lefevre/diagnóstico , Análisis de Secuencia de ADN/métodos , Árabes/legislación & jurisprudencia , Consanguinidad , Exoma , Femenino , Humanos , Masculino , Enfermedad de Papillon-Lefevre/genética , Linaje , Arabia Saudita
16.
Hum Mutat ; 35(12): 1446-8, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25224326

RESUMEN

Primary ciliary dyskinesia (PCD) is an autosomal-recessive disorder characterized by impaired ciliary function that leads to subsequent clinical phenotypes such as chronic sinopulmonary disease. PCD is also a genetically heterogeneous disorder with many single gene mutations leading to similar clinical phenotypes. Here, we present a novel PCD causal gene, coiled-coil domain containing 151 (CCDC151), which has been shown to be essential in motile cilia of many animals and other vertebrates but its effects in humans was not observed until currently. We observed a novel nonsense mutation in a homozygous state in the CCDC151 gene (NM_145045.4:c.925G>T:p.[E309*]) in a clinically diagnosed PCD patient from a consanguineous family of Arabic ancestry. The variant was absent in 238 randomly selected individuals indicating that the variant is rare and likely not to be a founder mutation. Our finding also shows that given prior knowledge from model organisms, even a single whole-exome sequence can be sufficient to discover a novel causal gene.


Asunto(s)
Proteínas Portadoras/genética , Codón sin Sentido , Predisposición Genética a la Enfermedad , Síndrome de Kartagener/genética , Humanos
17.
J Asthma ; 51(4): 435-9, 2014 May.
Artículo en Inglés | MEDLINE | ID: mdl-24344812

RESUMEN

OBJECTIVE: Asthma is the most common chronic disease among children. Uncontrolled asthma may considerably decrease the quality of life for patients and their families. Our objective was to identify possible risk factors for poor asthma control in children. METHODS: A cross-sectional study was conducted among children with asthma aged 4-11 years who attended a pediatric clinic for follow-up visits at one of the major teaching hospitals in Riyadh, Saudi Arabia. Asthma control status was measured by the childhood asthma control test. Multiple logistic regression analysis was performed to explore the relationships between the outcome and exposure variables. RESULTS: Uncontrolled asthma was present in 89 out of 158 children (59.3%). Asthma control improved with the number of siblings. Control improved by 69% with two or three siblings (OR = 0.31, 95% CI = 0.10-0.96) and by 87% with four or more siblings (OR = 0.13, 95% CI = 0.04-0.48). Similarly, asthma control improved with an increased asthma knowledge of the caregiver (OR = 0.87, 95% CI = 0.81-0.93). Household incomes less than SAR 15 000 and sharing a bedroom increased the odds of having uncontrolled asthma by 2.30 (95% CI = 1.02-5.21) and 3.33 (95% CI = 1.33-8.35), respectively. CONCLUSIONS: In addition to knowledge, socioeconomic factors, such as family income, household crowding, and the number of siblings are associated with asthma control among children in Saudi Arabia. Further research is needed to investigate the role of these factors.


Asunto(s)
Antiasmáticos/administración & dosificación , Asma/tratamiento farmacológico , Ambiente , Conocimientos, Actitudes y Práctica en Salud , Asma/diagnóstico , Asma/epidemiología , Niño , Preescolar , Intervalos de Confianza , Estudios Transversales , Países en Desarrollo , Escolaridad , Femenino , Estudios de Seguimiento , Humanos , Modelos Logísticos , Masculino , Análisis Multivariante , Psicología , Medición de Riesgo , Arabia Saudita , Hermanos , Factores Socioeconómicos , Resultado del Tratamiento
18.
Sudan J Paediatr ; 14(1): 71-80, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-27493393

RESUMEN

Childhood obesity has become a new challenge for healthcare providers. The issue is not limited to certain parts of the world; its prevalence is increasing worldwide. The causes of obesity are poorly understood and continue to be debated and studied. It is a multifactorial disorder which involves dietary, behavioral, environmental as well as genetic factors. The increased consumption of more energy-dense, nutrient-poor foods with high levels of sugar and saturated fats, combined with reduced physical activity, have led to high obesity rates among children. The aim of this study was to assess the effect of dietary intake on the occurrence of childhood obesity, and study other associated factors including the education, occupation and income of parents and the living status. Normal healthy school girls (n =196) and school boys (n = 85) between the age of 6- 15 were recruited for the study. We found that obesity among children in Riyadh City was significantly associated with fast food intake (p = 0.0280). It was also observed that 72.5% of the overweight or obese students consumed fast food at least 4 times/week, and the other 15.9% were taking fast food 1- 3 times/week, while only 11.6% of the same overweight or obese group did not consume any fast food/ week. Father's and mother's occupations were not significantly correlated to their children's body weight. The prevalence of childhood obesity is changing and increasing yearly and is attributed to the nutritional risk factors for the Saudi school-age children. It is interesting to know that most of overweight or obese school students belonged to the families of highincome. Parents must take necessary precautions for the diet of their children and should adopt healthy life style in order to prevent or manage obesity of their children.

19.
BMC Med Educ ; 13: 71, 2013 May 24.
Artículo en Inglés | MEDLINE | ID: mdl-23706014

RESUMEN

BACKGROUND: With the introduction of integrated problem-based learning (PBL) program in the medical curriculum, there is a need to create laboratory classes that suit students' learning needs and the changes introduced to the curriculum. This paper outlines the development and implementation of four integrated laboratory classes (ILCs) at King Saud University College of Medicine. It also examines whether core concepts addressed in these classes were learned and retained and how the students perceived the ILCs. METHODS: ILCs are based on enhancing enquiry-based learning, and encouraging students to work on tasks in small groups (apply and integrate knowledge from biochemistry, pathology and microbiology) and conduct a laboratory procedure (practical part). In two of these ILCs, a pretest comprising 15 multiple-choice questions were administrated at the start of the class and an identical posttest was administrated at the end of these classes. Performance of the students in the Objective Structured Practical Examination (OSPE) at the end of the blocks was also evaluated. Students' perceptions were evaluated using a questionnaire completed at the end of each class. RESULTS: A total of 247, 252, 238, and 244 students participated in practical classes covering cerebrospinal fluid infection, small intestine, liver function tests and adrenal gland function, respectively. Students got higher scores in posttests compared to pre-test scores in two classes (12.68 ± 2.03 vs 6.58 ± 3.39 and 13.02 ± 2.03 vs 7.43 ± 2.68, respectively). Paired t-test showed that the difference was significant (P < 0.001) in both tests. The mean scores of students in stations dealing with ILCs at the end of the block examinations were not significantly different from the mean scores for other stations not related to ILCs. The questionnaire indicated that most students expressed positive attitude towards working on tasks and applying knowledge learnt. Students also felt that conducting laboratory procedures and interpreting laboratory findings were valuable to their learning. CONCLUSIONS: Given the increase in the posttest scores (short-term retention) and the satisfactory performance of students at the end of block examinations (long-term retention) together with the students' satisfaction, the study suggests that the core concepts addressed in these classes were learned and retained.


Asunto(s)
Educación Médica/métodos , Ciencia del Laboratorio Clínico/educación , Aprendizaje Basado en Problemas/métodos , Bioquímica/educación , Evaluación Educacional , Humanos , Microbiología/educación , Evaluación de Necesidades , Patología/educación , Arabia Saudita
20.
Saudi Med J ; 34(1): 24-8, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-23299155

RESUMEN

OBJECTIVE: To examine the usefulness of fractional exhaled nitric oxide (FENO) measurements in detecting primary ciliary dyskinesia (PCD) in children. METHODS: This observational study was conducted at the Department of Pediatrics and Physiology, College of Medicine, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia from January 2011 to December 2011. The study population consisted of 22 children with symptoms suggestive of PCD and the diagnosis was confirmed by ciliary biopsy. Using the American Thoracic Society guidelines, measurements of FENO were performed in 22 subjects with proven PCD biopsies and in 11 healthy age-matched subjects. RESULTS: No significant differences were found on the basis of age or ventilatory function tests between the PCD patients and control groups. Fractional exhaled nitric oxide values were significantly lower in children with PCD (6.19+/-1.43) compared to control group (17.00+/-6.30) (CI: -14.854 to -5.927, p<0.0001). Rhinorrhea was seen in 7 (31.8%), recurrent acute otitis media in 16 (72.7%), chronic otitis media in 5 (22.7%), recurrent sinusitis in 5 (22.7%), chronic productive cough in 8 (36.4%), bronchospasm in 11 (50%), and dextrocardia in 3 (13.6%) subjects. There was no correlation between age, FENO, and ventilatory function parameters. CONCLUSION: The measurement of FENO appears to be a useful tool for screening children for PCD. It can complement other tests such as nasal biopsy and electron microscopy studies.


Asunto(s)
Pruebas Respiratorias , Síndrome de Kartagener/diagnóstico , Óxido Nítrico/análisis , Niño , Femenino , Humanos , Síndrome de Kartagener/fisiopatología , Masculino , Arabia Saudita
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