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1.
Cureus ; 15(1): e33581, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36636518

RESUMEN

Background The coronavirus type 2 that causes severe acute respiratory syndrome (SARS-CoV-2) was detected in December 2019 in Wuhan, China. A worldwide emergency response has been initiated because of the fast rise in the number of cases and fatalities during the early stages of the pandemic when vaccinations and efficient medical care were unavailable. Misinformation spread quickly in the early phases of the pandemic, leading to the inappropriate use of medications, chemicals, and traditional remedies for their claimed preventive or therapeutic purposes. Thus, our aim is to identify the impact of the coronavirus disease 2019 (COVID-19) lockdown on the patterns of intoxicated patients presenting to King Abdulaziz Medical City's adult and pediatric emergency departments. Methods A retrospective cohort study was conducted in the adult emergency department at King Abdulaziz Medical City and the pediatric emergency department at King Abdullah Specialized Children's Hospital in Riyadh, Saudi Arabia. All patients presented with poisoning as a chief complaint between March 23 to June 21 in 2019 (pre-lockdown), 2020 (the lockdown), and 2021 (post-lockdown) were included. Cases of registered poisoning complaints were reviewed and assessed with respect to patient demographics, the causative agent/substance responsible for the poisoning, management of poisoning, and particular outcomes on the approved data collection form by the research team. The data were entered and analyzed by using SPSS v26 (IBM Corp, Armonk, NY). The descriptive statistics are presented as frequency and percentage for the categorical data variables and mean and standard deviation for the numerical data. The data were further analyzed by using cross-tabulation (chi-square test), for the data that are both the predictor and the outcome was categorical. A p-value of < 0.05 was considered significant for all statistical tests. Results Out of 318 patients identified, 164 were adults and 154 were pediatric patients. The mean age of adult and pediatric patients was 33.3±15.5 years and 4±3.6 years, respectively. The majority of patients (115; 70.1%) were males in the adult group and females (90; 58.4%) in the pediatric. The majority of self-harm cases were accidental among both adults and pediatrics, 109 (66.5%) and 144 (93.5%), respectively. The disposition from the emergency department was discharged for 113 (68.7%) adult patients and 134 (87.0%) pediatric patients. The number of cases presented to ER with poisoning cases during the lockdown decreased. This was further tested inferentially, but no significant association was seen among study variables, i.e., p > 0.05. Conclusion The lockdown and pandemic had a significant impact on the rate and patterns of ED visits. The establishment and operation of Drug and Poison Information Centers (DPIC) across the Kingdom, in addition to increasing awareness through campaigns addressing drug and substance safety, is recommended.

2.
J Taibah Univ Med Sci ; 17(4): 573-577, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35983444

RESUMEN

Objective: There is limited literature focusing on the characteristics and behaviours of bladder tumours outside of the common three morphologies, that is, urothelial carcinoma, squamous cell carcinoma, and adenocarcinoma. The presented study provides a descriptive analysis of rare bladder tumours in KSA. Methods: This retrospective cohort study included all patients with a primary rare bladder tumour between 1 January 2008 and 31 December 2017. The data were acquired from the Saudi Tumour Registry. Frequencies and percentages were then generated for the categorical variables, while means and standard deviations were calculated for quantitative variables. Results: The study included 65 patients. The majority (n = 35, 53.8%) were aged 60 years and older. The patients were predominantly male (n = 53, 81.5%) and the majority lived in the Western region (n = 26, 40.?%). The most diagnosed tumour morphologies were small cell carcinoma in adults (n = 11, 16.9%) and embryonal rhabdomyosarcoma in children (n = 14, 21.5%), with the dominant diagnosis method being histology of primary tumour in 98.5% of the patients. Most tumours were localised (n = 30, 46.2%) and multifocal (n = 34, 52.3%). The overall mortality rate was 24.6%, with an overall diagnosis to death interval of 1.14 ± 0.75 years wherein small cell carcinoma was the shortest (0.84 ± 0.24) days. Conclusion: There remains a gap in the literature regarding uncommon urologic tumours. Shedding light on these factors will aid in further understanding the patterns of tumour behaviour in the region. This will facilitate enhanced risk-and response-based screening strategies and more favourable outcomes. Additionally, formulating a global registry for such patients is recommended.

3.
Front Endocrinol (Lausanne) ; 12: 742278, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34630333

RESUMEN

Introduction: DNAJC3, abundant in the pancreatic cells, attenuates endoplasmic reticulum stress. Homozygous DNAJC3 mutations have been reported to cause non-immune juvenile-onset diabetes, neurodegeneration, hearing loss, short stature, and hypothyroidism. Case Description: We report a case of homozygous DNAJC3 mutation in two siblings of a consanguineous family. A 3-year-old boy presented with short stature and a thyroid nodule. Laboratory findings confirmed hypothyroidism. Subsequently, levothyroxine was administered. Growth hormone (GH) stimulation test results were within the normal limits. His stature was exceedingly short (80.5 cm) (-3.79 SDS). The patient developed sensorineural hearing loss at age 6 years; his intellectual functioning was impaired. Recombinant Human Growth Hormine (rhGH) treatment was postponed until the age of 6.9 years due to a strong family history of diabetes. At age 9 years, he developed an ataxic gait. Brain magnetic resonance imaging (MRI) revealed neurodegeneration. The patient developed diabetes at the age of 11 years-5 years after the initiation of rhGH treatment. Tests for markers of autoimmune diabetes were negative. Lifestyle modification was introduced, but insulin therapy was eventually required. Whole-exome-sequencing (WES) revealed a homozygous DNAJC3 mutation, which explained his clinical presentation. MRI revealed a small, atrophic pancreas. At the age of 17, his final adult height was 143 cm (-4.7 SDS). His elder brother, who had the same mutation, had a similar history, except that he had milder ataxia and normal brain MRI finding at the age of 28 years. Conclusion: We propose that DNAJC3 mutation can be considered as a cause of maturity onset diabetes of the young. Patients with DNAJC3 mutations may possess a small atrophic pancreas.


Asunto(s)
Diabetes Mellitus/genética , Proteínas del Choque Térmico HSP40/genética , Páncreas/patología , Adolescente , Adulto , Atrofia , Estatura , Encéfalo/diagnóstico por imagen , Niño , Preescolar , Consanguinidad , Diabetes Mellitus/patología , Ataxia de la Marcha/etiología , Ataxia de la Marcha/genética , Humanos , Hipotiroidismo/etiología , Hipotiroidismo/genética , Lactante , Discapacidad Intelectual/etiología , Discapacidad Intelectual/genética , Imagen por Resonancia Magnética , Masculino , Mutación , Nódulo Tiroideo/complicaciones , Secuenciación del Exoma
4.
Front Neurol ; 11: 602267, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33424752

RESUMEN

Background: Central nervous system (CNS) infection is associated with high rates of morbidity and mortality, and despite advancements in molecular testing, aseptic meningitis remains challenging to diagnose. Aseptic meningitis cases are often underreported worldwide, which impacts the quality of patient care. Therefore, we aimed to assess the results of BioFire® FilmArray® meningitis/encephalitis (ME) PCR panel, clinical characteristics, and etiologies of aseptic meningitis patients. Methods: From January 2018 to January 2020, all pediatric and adult patients in a large tertiary medical center who underwent lumbar puncture and cerebrospinal fluid (CSF) testing by a ME multiplex PCR panel and who fit the aseptic meningitis definition were retrospectively reviewed. Results: Data were reviewed from 1,607 patients; 240 met the inclusion criteria (54.6% males; 68.8% <4 years of age). The rate of detected viral causes of aseptic meningitis was 40.4%; therefore, 59.6% of the patients remained with unidentified etiology. Among the identified viral meningitis, enterovirus and human herpesvirus 6 (HHV-6) were the most common (25 and 7.9%, respectively). The median length of hospital stay was 6 days, and it was longer in patients with unidentifiable aseptic meningitis (p < 0.0001). Conclusion: Aseptic meningitis is common among suspected meningitis patients, but most cases remained of unknown etiology. The most common identified viruses were enterovirus followed by HHV-6, and there is predominance in males and the pediatric age group. These results highlight that further research is needed to identify other etiologies and possible additional viral pathogens for aseptic meningitis in the current diagnostic methods.

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