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1.
Cureus ; 16(7): e63993, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38974396

RESUMEN

Introduction Weight stigma (WS), characterized by discrimination and stereotyping based on a person's weight, remains understudied in Saudi Arabia despite the country's high obesity rates. Particularly, limited research has been conducted on WS in Madinah. Understanding the factors contributing to WS in this region is crucial for developing targeted interventions to effectively address it. Hence, this study aimed to explore the effects of sociodemographic characteristics and body mass index (BMI) on WS among adults with obesity in Madinah. Methods Individuals with obesity who were seeking care at primary healthcare centers were included in this study. This research was an analytical cross-sectional study; Madinah City was divided into four areas. One primary health center from each area was randomly selected. Subsequently, a consecutive sampling technique was used to collect questionnaires from participants during the period of December 2023 to March 2024. The participants completed a self-administered electronic questionnaire, which included the Arabic-translated and validated version of the Weight Self-Stigma Questionnaire (WSSQ). Data analysis included descriptive, simple logistic regression and multiple logistic regression with forward stepwise analysis. Results A total of 383 participants completed the questionnaire, of which 225 (58.7%) were men and 158 (41.3%) were women. The analysis showed that individuals without a family history of obesity experienced higher WS levels than those with a family history [adjusted odds ratio (AOR) = 1.853, 95% confidence interval (CI): 1.010-2.844]. Moreover, individuals with obesity demonstrated the lowest WS levels than those without obesity (AOR = 0.027, 95% CI: 0.009-0.08). These findings provide insights into the association among sociodemographic factors, BMI, and WS in adults with obesity residing in Madinah, Saudi Arabia. Conclusion This study provides evidence that WS is a complex issue that is not solely determined by an individual's obesity status; rather, it is influenced by a lack of family history of obesity, which establishes the impact of social factors on WS. Therefore, comprehending the role of family dynamics and societal norms in shaping an individual's weight status is crucial in managing WS.

2.
Cureus ; 16(1): e51715, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38318536

RESUMEN

In this case report, we describe a rare presentation of diaphragmatic hernia in a pediatric patient presenting with syncope. Congenital diaphragmatic hernia (CDH) is a developmental discontinuity of the diaphragm that causes the abdominal viscera to herniate into the thoracic cavity. It is usually diagnosed shortly after birth and is often associated with pulmonary hypoplasia and pulmonary hypertension, causing life-threatening conditions, or it could be completely asymptomatic. Syncope is induced by various conditions such as cerebrovascular disease, arrhythmia, hypoglycemia, anemia, epilepsy, and autonomic nervous disorder.

3.
J Clin Imaging Sci ; 12: 15, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35510244

RESUMEN

Objectives: (1) To calculate the sensitivity and specificity of the Hounsfield Unit (HU), the HU to hematocrit (H:H) ratio, and the D-dimer level in the diagnosis of acute CVST. (2) To assess the D-dimer level's linear relationship with the HU and the H:H ratio. Materials and Methods: A single-center retrospective case-control study was conducted from 2005 to 2020. The inclusion criteria for the thrombosed and control groups were specified. A region of interest (ROI) was plotted on the respective sinuses to calculate the HU. The H:H ratio was calculated by dividing the HU value by the hematocrit value. The receiver operating characteristic curve was used to calculate the sensitivity and specificity of the HU and the H:H ratio at different cutoff values. The Pearson correlation was used to assess the linear relationship between the D-dimer level and the HU and H:H ratio. Results: There were 19 patients in the thrombosed group and 28 patients in the control group. There were significant differences in the mean HU (71 ± 6.3 vs. 45 ± 4.8, P < 0.001) and the mean H:H ratio (2.11 ± 0.38 vs. 1.46 ± 0.63,P < 0.001). An optimal HU value of 56 yielded 100% sensitivity and specificity. An H:H value of 1.48 yielded a sensitivity of 100% and a specificity of 65%, an H:H ratio of 1.77 demonstrated a sensitivity of 85% and a specificity of 90%, and an H:H ratio of 1.88 yielded a sensitivity of 79% and a specificity of 93%. D-dimer levels had a 95% and 71% sensitivity and specificity, respectively. There was a significant moderately positive linear correlation between the D-dimer level and the HU (r = 0.52, P < 0.001) and the H:H ratio (r = 0.61, P < 0.001). Conclusion: Unenhanced CT of the brain can be a valuable objective diagnostic tool for acute CVST diagnosis. Hounsfield blood density and its normalized ratio with hematocrit are positively correlated with D-dimer levels, which may indicate active blood coagulation in a cerebral venous sinus.

4.
Brain ; 144(3): 769-780, 2021 04 12.
Artículo en Inglés | MEDLINE | ID: mdl-33764426

RESUMEN

Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies in vacuolar protein sorting (VPS) proteins, key regulators of trafficking, cause abnormal intracellular segregation of macromolecules and organelles and are linked to human disease. VPS proteins function as part of complexes such as the homotypic fusion and vacuole protein sorting (HOPS) tethering complex, composed of VPS11, VPS16, VPS18, VPS33A, VPS39 and VPS41. The HOPS-specific subunit VPS41 has been reported to promote viability of dopaminergic neurons in Parkinson's disease but to date has not been linked to human disease. Here, we describe five unrelated families with nine affected individuals, all carrying homozygous variants in VPS41 that we show impact protein function. All affected individuals presented with a progressive neurodevelopmental disorder consisting of cognitive impairment, cerebellar atrophy/hypoplasia, motor dysfunction with ataxia and dystonia, and nystagmus. Zebrafish disease modelling supports the involvement of VPS41 dysfunction in the disorder, indicating lysosomal dysregulation throughout the brain and providing support for cerebellar and microglial abnormalities when vps41 was mutated. This provides the first example of human disease linked to the HOPS-specific subunit VPS41 and suggests the importance of HOPS complex activity for cerebellar function.


Asunto(s)
Ataxia Cerebelosa/genética , Predisposición Genética a la Enfermedad/genética , Trastornos del Neurodesarrollo/genética , Transporte de Proteínas/genética , Proteínas de Transporte Vesicular/genética , Adolescente , Adulto , Animales , Niño , Preescolar , Femenino , Variación Genética , Humanos , Masculino , Linaje , Adulto Joven , Pez Cebra
5.
Genes (Basel) ; 13(1)2021 12 30.
Artículo en Inglés | MEDLINE | ID: mdl-35052432

RESUMEN

Pathogenic variants in GEMIN4 contribute to a hereditary disorder characterized by neurodevelopmental features, microcephaly, cataracts, and renal abnormalities (known as NEDMCR). To date, only two homoallelic variations have been linked to the disease. Moreover, clinical features associated with the variants have not been fully elucidated yet. Here, we identified a novel variant in GEMIN4 (NM_015721:exon2:c.440A>G:p.His147Arg) in two siblings from a consanguineous Saudi family by using whole exome sequencing followed by Sanger sequence verification. We comprehensively investigated the patients' clinical features, including brain imaging and electroencephalogram findings, and compared their phenotypic characteristics with those of previously reported cases. In silico prediction and structural modeling support that the p.His147Arg variant is pathogenic.


Asunto(s)
Consanguinidad , Antígenos de Histocompatibilidad Menor/genética , Mutación , Trastornos del Neurodesarrollo/patología , Fenotipo , Ribonucleoproteínas Nucleares Pequeñas/genética , Catarata/complicaciones , Catarata/genética , Catarata/patología , Niño , Epilepsia/complicaciones , Epilepsia/genética , Epilepsia/patología , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Microcefalia/complicaciones , Microcefalia/genética , Microcefalia/patología , Trastornos del Neurodesarrollo/complicaciones , Trastornos del Neurodesarrollo/genética , Linaje , Cuadriplejía/complicaciones , Cuadriplejía/genética , Cuadriplejía/patología , Hermanos , Secuenciación del Exoma
6.
Saudi Med J ; 41(12): 1301-1307, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33294887

RESUMEN

OBJECTIVES:  To investigate the seroprevalence of influenza viruses (A and B) among blood donors in Kingdom of Saudi Arabia. Methods: The present investigation was conducted between April 2019 and July 2019. Participants were healthy adults recruited from the central blood bank Al Madinah Al Munawarah, Kingdom of Saudi Arabia. Immunoglobulin G (IgG) levels against influenza A and B were measured in serum samples using ELISA. RESULTS: The results showed that 29.2% of the sample had significant concentrations of influenza A IgG antibody, whereas 38.6% had significant concentrations of influenza B IgG antibody. A strong correlation was found between the levels of influenza A and influenza B antibodies (r=0.708, p less than 0.001). The number of individuals identified as negative for influenza A IgG antibody increased with age (p less than 0.01). In addition, no correlations were identified between influenza A IgG and influenza B IgG and body mass index (BMI), (p greater than 0.05). Finally, linear regression analysis showed that the level of influenza A antibody can be predicted by age (p less than 0.05) and body mass index (BMI) (p less than 0.05). CONCLUSION:  Approximately one-third of Saudi Arabian adults presented significant levels of influenza A and B antibodies in our study. Demographic factors, including age and BMI, might contribute to influenza A antibody levels.


Asunto(s)
Anticuerpos Antivirales/sangre , Donantes de Sangre , Inmunidad Innata/inmunología , Inmunoglobulina G/sangre , Virus de la Influenza A/inmunología , Virus de la Influenza B/inmunología , Gripe Humana/inmunología , Gripe Humana/virología , Adulto , Índice de Masa Corporal , Ensayo de Inmunoadsorción Enzimática , Femenino , Humanos , Masculino , Arabia Saudita , Estudios Seroepidemiológicos , Adulto Joven
7.
Br J Neurosurg ; 33(4): 432-433, 2019 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-28660774

RESUMEN

Canalis Basalis Medianus is a rare congenital normal anatomically variant of the clivus .We report a very rare case of cerebrospinal fluid leak from a canalis basilaris medianus in a 22-year-old male, who presented to our hospital with frontal headache and running nose two weeks after an elective septoplasty.


Asunto(s)
Pérdida de Líquido Cefalorraquídeo/etiología , Fosa Craneal Posterior/anomalías , Pérdida de Líquido Cefalorraquídeo/cirugía , Fosa Craneal Posterior/cirugía , Humanos , Imagen por Resonancia Magnética , Masculino , Imagen Multimodal , Neuroendoscopía/métodos , Nariz , Neumocéfalo/complicaciones , Neumocéfalo/cirugía , Tomografía Computarizada por Rayos X , Resultado del Tratamiento , Adulto Joven
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