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1.
Endocr Relat Cancer ; 2024 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-38767322

RESUMEN

In 2012, somatic EPAS1 pathogenic variants were found to cause a triad of pheochromocytoma/paragangliomas (PPGL), polycythemia and somatostatinoma. Since then, a limited number of studies on this subject have been reported and data on the long-term outcome of metastatic disease are not available on this rare syndrome. We comprehensively reviewed EPAS1-related PPGL and describe an unusual patient who has been living with an EPAS1-related metastatic PPGL for 47 years. The results of this work show that EPAS1 pathogenic variants are rare, more in females and patients without pathogenic variants in other PPGL susceptibility genes. PPGLs are the most common manifestation followed by polycythemia and somatostatinoma. The EPAS1 pathogenic variants are often postzygotic and the timing of their acquirement during embryonic development seem to correlate with the number and timing of development of the disease manifestations. Although recurrent and multifocal disease is common in EPAS1-related PPGL, distant metastases are uncommon and indolent. This is illustrated by a case of a man who was diagnosed at age 9 years and is currently 56-year-old, alive and well for 47 years with these metastases. He was found to have a somatic EPAS1 pathogenic variant (c.1592C>A, p.Pro531His) in bilateral pheochomoctoma and pancreatic NET (somatostatinoma) but not in genomic DNA isolated from peripheral leukocytes. This and previous reports suggest that distant metastases are uncommon and less aggressive in EPAS1-related PPGLs compared to those found in other hereditary PPGLs.

2.
Cureus ; 16(4): e57655, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38707022

RESUMEN

Background Gastrointestinal malignancy surgeries are known to have a risk of postoperative complications. Preoperative nutritional status has been suggested as a potential predictor of postoperative outcomes, with low serum albumin levels utilized as a marker of malnutrition and increased risk of postoperative complications. This paper investigated the association between preoperative serum albumin levels and postoperative outcomes in patients undergoing colorectal cancer surgery. Methods This retrospective data-maintained study was based on all patients aged 18 years and above who underwent colorectal cancer surgery at King Abdulaziz Medical City, Riyadh, Saudi Arabia between 2015 and 2022. Results A total of 400 patients were included in the study. With an average age of 64.43 years. Males represented 254 (63%) of the patients, while females accounted for 146 (37%). Thirty percent of patients had hypoalbuminemia (i.e., albumin level below 35 g/L) before surgery. Among the sample, 112 (28%) experienced complications after surgery. The mean albumin level for patients who experienced postoperative complications was 30.46 g/L while patients without complications had a normal albumin level. As for the length of hospital stay, it was eight days for patients with a normal albumin level and 23 days for hypoalbuminemia patients. Conclusion In conclusion, preoperative hypoalbuminemia is associated with poor patient outcomes and can be utilized as a prognostic marker for patients in need of colorectal cancer surgery.

3.
Saudi Pharm J ; 32(6): 102091, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38757070

RESUMEN

Introduction: Saudi Arabia has begun reforming its government-run health care system to increase efficiency and reduce costs. One effort is the adoption of an electronic prescribing system (Wasfaty) and outsourcing pharmaceutical services from government-run clinics to community pharmacies (CP). This study aims to compare satisfaction with pharmaceutical services offered in the two systems. Materials and methods: This cross-sectional observational study used existing survey data collected from patients (≥15 years of age) visiting government primary health care centers from January 2022 to June 2022. Satisfaction with three pharmaceutical services (availability of medications, pharmacist's explanation of the prescription, and waiting time to get medications) were the main outcomes. Results: The study comprised 91,317 participants, 74.06 % of them were CP/Wasfaty users. CP/Wasfaty patients had lower odds of satisfaction with the three pharmaceutical services: availability of medications (OR = 0.49, 95 % CI = 0.47-0.51), pharmacists' explanation of prescription (OR = 0.55, 95 % CI = 0.53-0.58), and waiting time to get medications (OR = 0.81, 95 % CI = 0.75-0.88). Additional findings showed variations in satisfaction levels based on demographic factors and clinic types. Conclusions: The significant differences observed in satisfaction levels based on demographic characteristics and type of clinics visited emphasize the importance of tailoring pharmaceutical services to meet the specific needs and expectations of different patient populations.

4.
Sci Rep ; 14(1): 10512, 2024 May 07.
Artículo en Inglés | MEDLINE | ID: mdl-38714824

RESUMEN

The study presents a new parameter free adaptive exponentially weighted moving average (AEWMA) control chart tailored for monitoring process dispersion, utilizing an adaptive approach for determining the smoothing constant. This chart is crafted to adeptly detect shifts within anticipated ranges in process dispersion by dynamically computing the smoothing constant. To assess its effectiveness, the chart's performance is measured through concise run-length profiles generated from Monte Carlo simulations. A notable aspect is the incorporation of an unbiased estimator in computing the smoothing constant through the suggested function, thereby improving the chart's capability to identify different levels of increasing and decreasing shifts in process dispersion. The comparison with an established adaptive EWMA-S2 dispersion chart highlights the considerable efficiency of the proposed chart in addressing diverse magnitudes of process dispersion shifts. Additionally, the study includes an application to a real-life dataset, showcasing the practicality and user-friendly nature of the proposed chart in real-world situations.

5.
J Endocr Soc ; 8(6): bvae085, 2024 Apr 06.
Artículo en Inglés | MEDLINE | ID: mdl-38745824

RESUMEN

Context: Data on germline genetics of pituitary adenomas (PAs) using whole-exome sequencing (WES) are limited. Objective: This study investigated the germline genetic variants in patients with PAs using WES. Methods: We studied 134 consecutive functioning (80.6%) and nonfunctioning (19.4%) PAs in 61 female (45.5%) and 73 male patients (54.5%). Their median age was 34 years (range, 11-85 years) and 31 patients had microadenomas (23.0%) and 103 macroadenomas (77%). None of these patients had family history of PA or a known PA-associated syndrome. Peripheral blood DNA was isolated and whole-exome sequenced. We used American College of Medical Genetics and Genomics (ACMG) criteria and a number of in silico analysis tools to characterize genetic variant pathogenicity levels and focused on previously reported PA-associated genes. Results: We identified 35 variants of unknown significance (VUS) in 17 PA-associated genes occurring in 40 patients (29.8%). Although designated VUS by the strict ACGM criteria, they are predicted to be pathogenic by in silico analyses and their extremely low frequencies in 1000 genome, gnomAD, and the Saudi Genome Project databases. Further analysis of these variants by the Alpha Missense analysis tool yielded 8 likely pathogenic variants in 9 patients in the following genes: AIP:c.767C>T (p.S256F), CDH23:c.906G>C (p.E302D), CDH23:c.1096G>A (p.A366T), DICER1:c.620C>T (p.A207V), MLH1:c.955G>A (p.E319K), MSH2:c.148G>A (p.A50T), SDHA:c.869T>C (p.L290P) and USP48 (2 patients): c.2233G>A (p.V745M). Conclusion: This study suggests that about 6.7% of patients with apparently sporadic PAs carry likely pathogenic variants in PA-associated genes. These findings need further studies to confirm them.

6.
Endocrine ; 2024 Apr 05.
Artículo en Inglés | MEDLINE | ID: mdl-38580894

RESUMEN

PURPOSE: Long noncoding RNAs (lncRNAs) play an essential role in the epigenetic regulation of various key genes involved in vital cellular functions. A somatic dinucleotide mutation in the lncRNA GAS8-AS1 was reported in Chinese papillary thyroid cancer. However, GAS8-AS1 dinucleotide alteration and its impact have never been explored in differentiated thyroid cancers and other populations. METHODS: We extracted genomic DNA from 265 DTCs and 97 normal healthy subjects, PCR amplified and Sanger sequenced to examine the GAS8-AS1 dinucleotide alteration. Calculated genotype/allele frequency to test Hardy-Weinberg Equilibrium (HWE) and performed a genetic model of inheritance to determine its association with DTC risk. Correlated the GAS8-AS1 dinucleotide variant distribution with clinical characteristics to find the association. Predicted GAS8-AS1 RNA secondary structure for wild type and variant using RemuRNA and RNAfold to assess the conformational changes. RESULTS: GAS8-AS1 dinucleotide alteration (n.713A > G, rs55742939; n.714T > C, rs61118444) identified in DTCs is a germline variant not somatic. The GAS8-AS1 genotype and allele frequency significantly deviated for HWE in DTCs (χ2 = 37.954; p = 0.0001) though not associated with its risk. Dinucleotide variant distribution was remarkably associated with early-stage disease (p = 0.002), lymph node (p = 0.01), and distant metastasis (p = 0.01) in DTCs. The GAS8-AS1 bearing dinucleotide variant markedly showed conformational change compared to that of its wild type. CONCLUSIONS: These findings indicate that GAS8-AS1 is genetically deregulated and implicated in several stages of DTC tumorigenesis suggesting it could be a promising prognostic biomarker in DTCs.

7.
J Infect Public Health ; 17(6): 975-985, 2024 Apr 16.
Artículo en Inglés | MEDLINE | ID: mdl-38631067

RESUMEN

BACKGROUND: The global COVID-19 crisis has underscored the critical role of effective decision-making in healthcare systems. Saudi Arabia has shown resilience by implementing comprehensive testing, tracing, and vaccination measures. Given the unique cultural and religious characteristics of Makkah, specific challenges have prompted efforts to uncover local pandemic responses. This qualitative assessment aims to delineate the challenges faced by decision-makers during COVID-19 in Makkah and identify key interventions implemented by the Makkah healthcare cluster to manage and coordinate care. METHOD: Utilizing a purposive sampling approach, executive leaders within the Makkah Healthcare Cluster were invited for semi-structured interviews during the COVID-19 period. Thematic analysis was carried out in five steps, ensuring rigor and trustworthiness through multiple checks, and employing a critical and collaborative approach. RESULT: Throughout the COVID-19 outbreak in Makkah, participants revealed Several factors that have hindered healthcare organizations' ability to effectively manage the pandemic, including testing difficulties, resource shortages, vaccination misconceptions, continuity of care issues, infections among healthcare workers, and the need for consistent protocols. The participant leaders in Makkah's healthcare cluster specified implemented strategies that helped in overcoming the encountered challenges, such as adopting new technologies, enhancing communication, managing supply and demand, and improving workforce adaptability and development. Their experience in managing Hajj and Umrah provided valuable insights for handling the pandemic effectively. CONCLUSION: The study emphasizes the significance of technology adoption, effective communication, supply management, workforce development, and lessons from managing religious events. Its findings have implications for healthcare systems globally, emphasizing the importance of preparedness, response, and resilience in diverse cultural contexts.

8.
Sci Rep ; 14(1): 9633, 2024 04 26.
Artículo en Inglés | MEDLINE | ID: mdl-38671182

RESUMEN

In the current study, we demonstrate the use of a quality framework to review the process for improving the quality and safety of the patient in the health care department. The researchers paid attention to assessing the performance of the health care service, where the data is usually heterogeneous to patient's health conditions. In our study, the support vector machine (SVM) regression model is used to handle the challenge of adjusting the risk factors attached to the patients. Further, the design of exponentially weighted moving average (EWMA) control charts is proposed based on the residuals obtained through SVM regression model. Analyzing real cardiac surgery patient data, we employed the SVM method to gauge patient condition. The resulting SVM-EWMA chart, fashioned via SVM modeling, revealed superior shift detection capabilities and demonstrated enhanced efficacy compared to the risk-adjusted EWMA control chart.


Asunto(s)
Procedimientos Quirúrgicos Cardíacos , Máquina de Vectores de Soporte , Humanos , Procedimientos Quirúrgicos Cardíacos/métodos , Factores de Riesgo , Ajuste de Riesgo/métodos
9.
J Taibah Univ Med Sci ; 19(2): 453-459, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38510063

RESUMEN

Background: KSA is currently undergoing significant changes in its healthcare system, with a particular emphasis on enhancing the role of primary healthcare centers (PHCs) to elevate patient experience and overall healthcare quality. At the forefront of this transformation are head managers in PHCs, who play a crucial role in implementing these changes effectively. The readiness of these managers is paramount to the successful execution of the envisioned transformation and the subsequent improvement of patient experience. Objective: This study aims to assess the readiness to change among head managers of primary healthcare centers in Makkah, KSA. Methodology: Cross-sectional study utilized the ADKAR model questionnaire, consisting of 22 Likert scale questions, to assess PHCs head managers' awareness, desire, knowledge, ability, reinforcement, and overall change readiness. Results: The study found a significant association between higher educational levels and increased awareness (ß = 0.214, p = 0.030), along with greater desire (ß = 0.207, p = 0.029) among primary healthcare (PHC) managers. Additionally, a positive association was found between age (≥41 years) and knowledge among PHC managers (ß = 0.138, p = 0.030). However, managers with 11 or more years of experience showed a negative association with change readiness (ß = -0.112, p = 0.001). Conclusion: The ADKAR model outlines five dimensions that are useful for identifying the readiness and willingness of head managers in PHCs in Makkah cluster to undergo change. Assessing change readiness is crucial for organizational transformation, with head managers playing a significant role. Factors such as age, education, and experience influence managers' readiness for change in primary healthcare centers (PHCs) in Makkah.

10.
J Oncol Pharm Pract ; : 10781552241232697, 2024 Feb 20.
Artículo en Inglés | MEDLINE | ID: mdl-38377985

RESUMEN

BACKGROUND: Cancer care is posing immense challenges to healthcare systems globally. Advances in screening, monitoring, and treating cancer improved patient outcomes and survival rates yet amplified the disease burden. Multiple barriers might impede early access to innovative therapies. We thoroughly examined the current challenges in oncology medication access in Saudi Arabia and provided consensus recommendations to revitalize the process. METHODS: A focus group discussion was conducted. Expert healthcare providers (pharmacists and physicians) were invited to participate based on prespecified criteria. The research team conducted a qualitative analysis of the discussion to identify themes and formulate recommendations. RESULTS: Fourteen experts were equally distributed into two groups, limiting the number in each group to 7. Pharmacists were 12 (∼86%), and physicians were 2 (∼14%). Ten were practicing in governmental hospitals, four representing different sectors; regulatory bodies, including Ministry of Health, National Unified Procurement Company, and Saudi Food and Drug Authority. Five themes were identified: national cancer burden, local data availability, pharmacoeconomic evaluation, patients reported outcomes, administration, and procurement. Consensus recommendations were formulated to optimize the formulary management process, enabling informed decision-making and facilitating early medication access for cancer patients. CONCLUSIONS: The formulary management process can be enhanced by addressing the national cancer burden, promoting local data availability, conducting pharmacoeconomic evaluations, focusing on patient outcomes, and improving administration and procurement procedures. Implementing these recommendations can improve access to oncology medications and improve patient care outcomes in Saudi Arabia.

11.
AMB Express ; 14(1): 17, 2024 Feb 08.
Artículo en Inglés | MEDLINE | ID: mdl-38329626

RESUMEN

The genus Enterobacter belongs to the ESKAPE group, which includes Enterococcus faecium, Staphylococcus aureus, Klebsiella pneumoniae, Acinetobacter baumannii, Pseudomonas aeruginosa, and Enterobacter spp. This group is characterized by the development of resistance to various antibiotics. In recent years, Enterobacter cloacae (E. cloacae) has emerged as a clinically important pathogen responsible for a wide range of healthcare-associated illnesses. Identifying Enterobacter species can be challenging due to their similar phenotypic characteristics. The emergence of multidrug-resistant E. cloacae is also a significant problem in healthcare settings. Therefore, our study aimed to identify and differentiate E. cloacae using Matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS) as a fast and precise proteomic analytical technique. We also tested hospital-acquired E. cloacae isolates that produce Extended-spectrum beta-lactamases (ESBL) against commonly used antibiotics for treating urinary tract infections (UTIs). We used a total of 189 E. cloacae isolates from 2300 urine samples of patients with UTIs in our investigation. We employed culturing techniques, as well as the BD Phoenix™ automated identification system (Becton, Dickinson) and Analytical Profile Index (API) system for the biochemical identification of E. cloacae isolates. We used the MALDI Biotyper (MBT) device for peptide mass fingerprinting analysis of all isolates. We utilized the single peak intensities and Principal Component Analysis (PCA) created by MBT Compass software to discriminate and cluster the E. cloacae isolates. Additionally, we evaluated the sensitivity and resistance of ESBL-E. cloacae isolates using the Kirby Bauer method. Out of the 189 E. cloacae isolates, the BD Phoenix system correctly identified 180 (95.24%) isolates, while the API system correctly identified 165 (87.30%) isolates. However, the MBT accurately identified 185 (98.95%) isolates with a score of 2.00 or higher. PCA positively discriminated the identified E. cloacae isolates into one group, and prominent peaks were noticed between 4230 mass-to-charge ratio (m/z) and 8500 m/z. The ESBL-E. cloacae isolates exhibited a higher degree of resistance to ampicillin, amoxicillin-clavulanate, cephalothin, cefuroxime, and cefoxitin. Several isolates were susceptible to carbapenems (meropenem, imipenem, and ertapenem); however, potential future resistance against carbapenems should be taken into consideration. In conclusion, MALDI-TOF MS is a powerful and precise technology that can be routinely used to recognize and differentiate various pathogens in clinical samples. Additionally, the growing antimicrobial resistance of this bacterium may pose a significant risk to human health.

12.
Cureus ; 16(1): e52896, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38406100

RESUMEN

Background Medication-related osteonecrosis of the jaws (MRONJ) is a rare but severe condition that has garnered increasing attention in recent years. It primarily affects individuals undergoing treatment with antiresorptive and antiangiogenic medications, such as bisphosphonates and denosumab, commonly prescribed for osteoporosis and cancer-related bone metastases. Therefore, the present study aimed to assess awareness and understanding of MRONJ among patients receiving antiresorptive and antiangiogenic medications. Methods A cross-sectional survey was conducted among 110 patients receiving antiresorptive and antiangiogenic medications in a clinical setting. Participants were given a structured questionnaire to assess their awareness of MRONJ. The questionnaire covered aspects such as MRONJ, bisphosphonate usage, and awareness of the condition's potential complications. Demographic information was also collected. Chi-square and Fisher's tests were performed using SPSS statistical software. Results In terms of gender distribution, 63.6% of the participants were female. Concerning age distribution, the majority (43.6%) fell within the 21 to 40 age group, whereas only 5.5% were aged over 60. Regarding educational attainment, a substantial majority (58.2%) of the participants held a bachelor's degree. The study findings reveal that a considerable proportion (35.5%) of participants possess awareness regarding jaw osteonecrosis, and this association is statistically significant (p=0.002). A substantial number of participants administered the medication orally (30.9%), while others utilized various administration routes, including injection (IV and others) (40%), and this difference was also statistically significant (p=0.001). Most participants took bisphosphonates for osteoporosis (41.8%) or cancer (13.6%), both statistically significant (p<0.01). Gender had no significant impact (p>0.01), but age showed potential associations (p=0.07 for awareness, p=0.003 for medication use). Educational backgrounds had no significant link, except for bisphosphonate usage (p<0.01) and side effects reporting (p<0.01). Conclusion Notably, a small percentage of participants demonstrated awareness of this condition, indicating a need for continued education and awareness campaigns. Further research and interventions may be warranted to address the specific needs of different age groups and educational backgrounds in promoting safe and effective medication management.

13.
Front Endocrinol (Lausanne) ; 15: 1326134, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38405143

RESUMEN

Background: Bethesda III and IV thyroid nodules continue to be difficult to manage. Although molecular testing may assist in decision-making, it is expensive, not widely available, and not without pitfalls. The objective of this study is to assess whether certain thyroid ultrasonographic features may predict the risk of thyroid cancer in patients with Bethesda III and IV thyroid nodules and be used as additional decision-making tools to complement cytopathological results in deciding on diagnostic thyroidectomy. Methods: We retrospectively evaluated the ultrasonographic features of Bethesda categories III and IV thyroid nodules in patients who underwent subsequent thyroidectomy. We used the final histopathological examination of the surgical specimens as the gold-standard test and analyzed individual preoperative ultrasonographic features as predictors of malignancy. Results: Of the 278 patients who were diagnosed with Bethesda III and IV thyroid nodules on fine needle aspiration cytology (FNAC), 111 (39.9%) had thyroid cancer, and 167 (59.9%) exhibited benign nodules. The malignancy rate was higher in patients with Bethesda IV nodules (28/50, 56%) than those with Bethesda III nodules (83/228, 36.4%; p=0.016). In univariate analysis, hypoechogenicity (55.6% in malignant vs. 35.3% in benign, p=0.006) and calcifications (54.5 in malignant vs. 35.4% in benign, p=0.008) were significantly different between the benign and malignant pathology groups, whereas the size of the dominant nodule, number of nodules, irregular borders, taller-than-wide shape, and the presence of lymph nodes were comparable between the two groups. These two ultrasonographic features (hypoechogenicity and calcifications) remained significantly associated with the risk of malignancy in multivariate logistic regression analysis (for hypoechogenicity, p=0.014, odds ratio: 2.1, 95% CI:1.0-3.7 and for calcifications, p=0.019, odds ratio: 1.98, 95% CI:1.12-3.50). The sensitivity, specificity, positive and negative predictive values, and accuracy were 31.5%, 83%, 55.6%,64.7%, and 62.6%, for hypoechogenicity, respectively and 32.4%, 82%, 54.5%, 67.8%, and 62%, for calcification, respectively. Conclusions: Hypoechogenicity and calcifications in Bethesda III and IV thyroid nodules are strong predictors of thyroid cancer and associated with a two-fold increased risk of malignancy.


Asunto(s)
Calcinosis , Neoplasias de la Tiroides , Nódulo Tiroideo , Humanos , Nódulo Tiroideo/patología , Estudios Retrospectivos , Neoplasias de la Tiroides/patología , Tiroidectomía , Calcinosis/cirugía
14.
Cureus ; 15(11): e49220, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-38143676

RESUMEN

Background Early detection and management of ectopic eruption (EE) of first permanent molars (FPMs) are crucial to avoid complicated treatments later. Aim This study aimed to assess the prevalence and severity of EE of FPMs among children in Makkah, Saudi Arabia. Methods This retrospective study was based on a radiographic evaluation of 1,008 dental panoramic radiographs performed for children attending the Dental Educational Hospital at Umm Al-Qura University and the Security Forces Hospital in Makkah. Patients' age, sex, tooth location, and severity of EE were assessed. The study adhered to the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) guideline for cross-sectional studies.  Results Of the 1,008 reviewed cases, 18 (1.79%) were diagnosed with EE of FPMs. Among the 11 male patients, 81.82% showed severe EE, while 57.14% exhibited moderately severe EE among the seven female patients. The prevalences of EE in the maxilla and mandible were 1.59% and 0.20%, respectively. In contrast, the occurrence of EE of FPMs was similar between the right and left sides. Conclusion In this study, the prevalence of EE of FPMs among children in Makkah was 1.79%. The frequency and severity were both greater in male patients compared to female patients. While significantly more EE of FPMs was observed in the maxilla than in the mandible, there was no significant difference between the right and left sides.

15.
Front Endocrinol (Lausanne) ; 14: 1273093, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38152133

RESUMEN

Context: Germline succinate dehydrogenase subunit B (SDHB) pathogenic variants are characteristic of familial paraganglioma (PGL) syndrome type 4. This syndrome frequently presents with abdominal PGL and has high tendency for locally aggressive behavior and distant metastasis. The vast majority of pituitary adenomas (PAs) are sporadic. However, PAs can be part of a number of familial tumor syndromes such as multiple endocrine neoplasia type 1 (MEN 1) or more rarely in association with pheochromocytoma and PGL (referred to as 3P syndrome). Only a limited number of PAs in association with SDHB-related PGL has been reported and the vast majority occurred subsequently or simultaneously with pheochromocytoma/PGL (collectively abbreviated as PPGL). In this report, we describe a young patient who had a giant pituitary macroprolactinoma resistant to large doses of cabergoline (CBG) and external beam radiotherapy (XRT). The patient did not have personal history of PPGL but was found to carry a germline SDHB pathogenic variant. Case report: A 38-year-old woman presented with headache, visual disturbances and galactorrhea and was found to have a 34-mm macroprolactinoma. She was treated with CBG 3-4 mg per week but PA continued to grow and caused significant cranial pressure symptoms. She underwent two transsphenoidal surgeries with rapid tumor recurrence after each one. She received XRT but PA continued to grow. She was finally treated with temozolomide with excellent response. Whole exome and subsequent Sanger sequencing confirmed that she has a pathogenic monoallelic SDHB mutation (NM_003000:c.C343T, p.R115*). PA tissue showed loss of heterozygosity for the same mutation and absent SDHB immunostaining confirming the pathogenic role of this SDHB mutation. Conclusion: Germline SDHB mutations can rarely cause PA in the absence of PPGL. They should be considered as a possible cause of aggressiveness and resistance to dopamine agonists in similar cases.


Asunto(s)
Adenoma , Neoplasias de las Glándulas Suprarrenales , Paraganglioma , Feocromocitoma , Neoplasias Hipofisarias , Prolactinoma , Femenino , Humanos , Adulto , Feocromocitoma/genética , Cabergolina , Temozolomida/uso terapéutico , Prolactinoma/tratamiento farmacológico , Prolactinoma/genética , Recurrencia Local de Neoplasia , Paraganglioma/tratamiento farmacológico , Paraganglioma/genética , Paraganglioma/diagnóstico , Adenoma/genética , Neoplasias Hipofisarias/tratamiento farmacológico , Neoplasias Hipofisarias/genética , Neoplasias de las Glándulas Suprarrenales/genética , Succinato Deshidrogenasa/genética
16.
J Clin Med ; 12(21)2023 Oct 27.
Artículo en Inglés | MEDLINE | ID: mdl-37959252

RESUMEN

This study aimed to assess patient-related factors associated with the LOS among adults admitted to the ICU in Saudi Arabia. The Ministry of Health provided a cross-sectional dataset for 2021, which served as the data source for this study. The data included data on adults admitted to different ICUs at various hospitals. The number of days spent in the ICU was the outcome variable of interest. The potential predictors were age, sex, and nationality, as well as clinical data from the time of admission. Descriptive statistics and bivariate analysis were used to analyse the association between the predictors and the ICU LOS and characterize how they were distributed. We used negative binomial regression to examine the relationship between the study predictors and the ICU LOS. A total of 42,884 individuals were included in this study, of whom 25,520 were men and 17,362 were women. The overall median ICU LOS was three days. This study showed that the ICU LOS was highly influenced by the patient's age, sex, nationality, source of admission, and clinical history. Several predictors that affect how long adults stay in the ICU in Saudi Arabian hospitals were identified in this study. These factors can be attributed to variances in health care delivery systems, patient demographics, and cultural considerations. To allocate resources efficiently, enhance patient outcomes, and create focused treatments to reduce ICU LOS, it is essential to comprehend these elements.

17.
Sensors (Basel) ; 23(21)2023 Oct 27.
Artículo en Inglés | MEDLINE | ID: mdl-37960453

RESUMEN

Smart cities have emerged as a specialized domain encompassing various technologies, transitioning from civil engineering to technology-driven solutions. The accelerated development of technologies, such as the Internet of Things (IoT), software-defined networks (SDN), 5G, artificial intelligence, cognitive science, and analytics, has played a crucial role in providing solutions for smart cities. Smart cities heavily rely on devices, ad hoc networks, and cloud computing to integrate and streamline various activities towards common goals. However, the complexity arising from multiple cloud service providers offering myriad services necessitates a stable and coherent platform for sustainable operations. The Smart City Operational Platform Ecology (SCOPE) model has been developed to address the growing demands, and incorporates machine learning, cognitive correlates, ecosystem management, and security. SCOPE provides an ecosystem that establishes a balance for achieving sustainability and progress. In the context of smart cities, Internet of Things (IoT) devices play a significant role in enabling automation and data capture. This research paper focuses on a specific module of SCOPE, which deals with data processing and learning mechanisms for object identification in smart cities. Specifically, it presents a car parking system that utilizes smart identification techniques to identify vacant slots. The learning controller in SCOPE employs a two-tier approach, and utilizes two different models, namely Alex Net and YOLO, to ensure procedural stability and improvement.

18.
Cureus ; 15(11): e48313, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37933321

RESUMEN

Multiple Endocrine Neoplasia Type 1 (MEN-1) is an autosomal dominant familial disorder associated with tumors in both endocrine and non-endocrine organs. It is uncommon for MEN-1 to coincide with breast cancer. We present a case of a 15-year-old Saudi girl who exhibited the classic symptoms of MEN-1 and subsequently developed breast cancer. The patient's breast cancer was diagnosed using ultrasonography and core biopsy, and she was treated with surgical interventions. Despite these treatments, her cancer progressed to a metastatic stage, and her overall health deteriorated, leading to cardiopulmonary arrest at a young age. Although the simultaneous appearance of MEN-1 and breast cancer in our patient may suggest a potential link, our comprehensive genetic analysis found no relationship between her MEN-1 mutation and the onset of breast cancer. This suggests that, in this case, the two conditions co-occurred by chance. Nonetheless, additional research is needed to explore potential associations between MEN-1 and breast cancer.

19.
Cureus ; 15(10): e47806, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37899897

RESUMEN

Introduction Recent cases of human monkeypox virus (MPXV) infections have raised global health concerns, as sporadic instances have occurred in various regions, prompting investigations into the potential for increased transmission. This underscores the importance of effective communication strategies in addressing the emerging challenges associated with this viral ailment. The study was conducted to understand public anxiety and knowledge related to MPXV infection, particularly in the context of emerging infectious diseases. Our aims included assessing anxiety levels and knowledge about monkeypox infection among the Saudi population, as well as their willingness to receive vaccinations if available. Methods A cross-sectional cohort study among the adult Saudi population was conducted. A questionnaire with four sections, including demographic data and disease knowledge, comprised optimized questions of the standard generalized anxiety disorder assessment (GAD-7) as well as questions related to acceptance of getting the vaccine if it could be afforded. Results Out of a total of 5298 participants, 927 (17.5%) showed different degrees of GAD-7 anxiety. Females showed a significantly higher rate of anxiety (487/2189, 22.2%) than males (440/3109, 14.2%). People aged 46 to 55 and >55 years old showed significantly higher rates of anxiety (30.7% and 27.2%). There is an overall decrease in knowledge and awareness about the MPXV. Interestingly, 59% of the participants admitted that they would get the MPXV vaccine if it were made available. There was a positive correlation between the anxiety level and the response of people toward the MPXV vaccine if it were available. Conclusion Our study underscores a significant level of anxiety and a notable lack of awareness concerning MPXV infection. Although a substantial number of participants expressed their willingness to receive an MPXV vaccine, our findings emphasize the pressing need for improved public education and awareness campaigns to alleviate anxiety levels and enhance understanding of this infectious disease. This effort is crucial for mitigating health concerns and facilitating well-informed decision-making among the Saudi population.

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