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1.
Int J Biol Macromol ; 268(Pt 1): 131768, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38663706

RESUMO

Copper(L2Cu) and vanadium(L2VOCl) complexes of N-p-tolylbenzohydroxamic acid (LH) ligand have been investigated for DNA binding efficacy by multiple analytical, spectral, and computational techniques. The results revealed that complexes as groove binders as evidenced by UV absorption. Fluorescence studies including displacement assay using classical intercalator ethidium bromide as fluorescent probe also confirmed as groove binders. The viscometric analysis too supports the inferences as strong groove binders for both the complexes. Molecular docking too exposed DNA as a target to the complexes which precisely binds L2Cu, in the minor groove region while L2VOCl in major groove region. Molecular dynamic simulation performed on L2Cu complex revealing the interaction of complex with DNA within 20 ns time. The complex stacked into the nitrogen bases of oligonucleotides and the bonding features were intrinsically preserved for longer simulation times. In-vitro cytotoxicity study was undertaken employing MTT assay against the breast cancer cell line (MCF-7). Potential cytotoxic activities were observed for L2Cu and L2VOCl complexes with IC50 values of showing 71 % and 74 % of inhibition respectively.


Assuntos
Antineoplásicos , Cobre , DNA , Ácidos Hidroxâmicos , Simulação de Acoplamento Molecular , Vanádio , Humanos , Cobre/química , Antineoplásicos/farmacologia , Antineoplásicos/química , Células MCF-7 , DNA/química , DNA/metabolismo , Ácidos Hidroxâmicos/química , Ácidos Hidroxâmicos/farmacologia , Vanádio/química , Vanádio/farmacologia , Simulação de Dinâmica Molecular , Complexos de Coordenação/química , Complexos de Coordenação/farmacologia , Ligantes
2.
Infect Drug Resist ; 16: 5647-5664, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37662975

RESUMO

Background: Bronchiolitis is a clinical syndrome affecting the lower respiratory tract of infants and toddlers <2 years old. Variability in clinical profile and response to therapy in children with Bronchiolitis calls for studying the different clinical aspects of local patient population. Aim: The goal of our study is to determine the clinical presentation, past medical history, hospitalization course and prognosis in children below two years of age who have been hospitalized in King Fahad University Hospital over the last five years. Materials and Methods: A retrospective chart review based on electronic health records of all Bronchiolitis-related hospitalization of infants and toddlers below two years of age, covering the period between January 1, 2015, to April 26, 2020. Results: Out of a total of 446 children <2 years of age, 202 were female (45.4%), and 243 were male (54.6%). Although the length of hospital stay was almost equal between the sexes, there was a significant (p-value=0.01) increase in length of intensive care unit stay among females compared to males. Furthermore, there was a significant prolongation in the duration of ventilator usage among females (p value = 0.062). Out of fifty-five patients admitted to the ICU, 83.63% of them were 12 months of age and below. Conclusion: Our results show a significant increase in length of ICU and ventilator use among females compared to males. It also shows that infants younger than 12 months account for most ICU admissions. These findings, among many others, may help pediatricians formulate a better diagnostic and therapeutic pathways.

3.
Cureus ; 15(8): e43499, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37719588

RESUMO

Background Intracranial Atherosclerotic Stenosis (ICAS) represents a noteworthy cerebrovascular pathology linked to ischemic stroke, contributing to a considerable burden of morbidity and mortality on a global scale. The present study was undertaken with the primary objective of investigating the frequency, risk factors, and outcomes of ICAS in stroke patients within the Southern Region of Saudi Arabia. Methods This was a descriptive cross-sectional study conducted at a tertiary care hospital located in the southern region of Saudi Arabia, from June 2022 to December 2022. The study population consisted of patients aged 18 years and above who were diagnosed with acute ischemic stroke during the designated research period. Patients with hemorrhagic stroke, transient ischemic attack (TIA), or incomplete medical records were excluded from the analysis. Data pertaining to the patients were retrieved from their respective medical records. Results Out of 201 patients admitted with stroke, 92 (45.77%) were found to have intracranial stenosis. The majority of patients were female (52.2%) and aged over 55 years (60.9%). The presence of hypertension exhibited a statistically significant correlation with varying degrees of stenosis (p=0.02), as did ischemic heart disease and obesity (p=0.04) and active smoking (p=0.01). Hypertension displayed a marginal association with intracranial stenosis, with an odds ratio of 1.01 (95% CI: 0.25, 4.11) and a p-value of 0.02. Similarly, dyslipidemia showed a potential correlation, with an odds ratio of 1.16 (95% CI: 0.44, 3.03) and a p-value of 0.014. On the other hand, obesity showed a stronger association, with an odds ratio of 4.53 (95% CI: 1.05, 19.51) and a p-value of 0.04. Among the patients, 25 (27.17%) underwent revascularization procedures, while 44 (47.83%) were not eligible for such intervention. During the three-month follow-up, 4 (16%) experienced an ipsilateral stroke, and 3 (12%) suffered from a contralateral transient ischemic attack (TIA). Encouragingly, 18 (72%) of the treated patients showed no recurrence during the follow-up period. Conclusion This study concludes that approximately half (45.77%) of stroke patients had intracranial stenosis, and significant associations were found between varying degrees of stenosis and hypertension, ischemic heart disease, obesity, and active smoking. Hypertension demonstrated a marginal correlation, while obesity exhibited a stronger association with intracranial stenosis.

4.
Clin Genet ; 104(4): 497-498, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37308312

RESUMO

A Loss-of-function variant in ZNF808 is associated with non-syndromic neonatal diabetes in a consanguineous family with three affected siblings.


Assuntos
Diabetes Mellitus , Humanos , Recém-Nascido , Consanguinidade , Diabetes Mellitus/genética , Genes Recessivos , Linhagem , Irmãos
5.
Med Arch ; 77(2): 150-154, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37260799

RESUMO

Background: Myxopapillary ependymoma is a rare type of primary spinal tumor, it is distinctly a slow-growing tumor that originates in the conus medullaris, cauda equina, or film terminals and is rarely identified as a multicentric type. Myxopapillary ependymoma has a unique histological characteristic and is associated with a generally better prognosis. Objective: We present a case of a rare multicentric myxopapillary ependymoma. Case presentation: A 28-year-old male with 1-year history of low back pain and 3 months of radiating pain to left lower limb with perianal anesthesia. Magnetic resonance imaging (MRI) exhibited a large intradural intramedullary lesion from the level of the conus medullaris extending to the filum terminals at the level of T12 to L3 with smaller multiple enhancing lesions seen opposite to L4 and L5 level as well as within the exiting nerve roots, at the left side of L1/L2 and L2/L3 and right side of L3/L4 and L5/S1 level. The patient underwent surgical resection with significant improvement in symptoms and no tumor progression on follow up MRI scan. Conclusion: We hereby present a case of multicentric myxopapillary ependymoma with a literature review of the previous reported cases. We believe that our study will make a significant contribution to the literature and will be of interest to the readership regarding of the rarity of multicentric Myxopapillary ependymoma and it will help in decision making for the proper surgical Intervention on these kinds of cases.


Assuntos
Cauda Equina , Ependimoma , Dor Lombar , Neoplasias da Medula Espinal , Masculino , Humanos , Adulto , Ependimoma/diagnóstico por imagem , Ependimoma/cirurgia , Cauda Equina/patologia , Cauda Equina/cirurgia , Neoplasias da Medula Espinal/diagnóstico por imagem , Neoplasias da Medula Espinal/cirurgia , Dor Lombar/complicações , Imageamento por Ressonância Magnética/métodos
6.
Front Surg ; 10: 1077355, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37139189

RESUMO

Background: Meningiomas are mostly benign and slow-growing neoplasms of the central nervous system. Spinal meningiomas account for up to 45% of all intradural spinal tumors in adults and up to 25%-45% of all spinal tumors. Spinal extradural meningiomas are rare and may be easily confused with malignant neoplasms. Case description: A 24-year-old woman was presented to our hospital with paraplegia and loss of sensation in the T7 dermatome and lower body. MRI findings showed T6-T7 right-sided intradural extramedullary and extradural lesion, measuring 1.4 cm × 1.5 cm × 3 cm, extending to the right foramen, compressing the spinal cord, and displacing it to the left. Hyperintense lesion on T2 and hypointense lesion on T1 were observed. The patient reported improvement after surgery and during follow-up. We recommend maximizing the decompression during surgery to achieve better clinical outcome. Extradural meningiomas represent 5% of all meningiomas; therefore, having an intradural on top of extradural meningioma with extraforaminal extensions makes this a unique and rare case. Conclusion: Meningiomas can be easily missed in diagnosis depending on imaging and the pathognomonic pattern it represents, which can mimic other pathologies, such as schwannomas. Therefore, surgeons should always suspect their patient having a meningioma even if the pattern is not typical. Moreover, preoperative preparation, such as navigation and defect closure, must be taken in case it turns out be a meningioma instead of the presumed pathology.

7.
Brain Sci ; 12(9)2022 Sep 02.
Artigo em Inglês | MEDLINE | ID: mdl-36138922

RESUMO

Purpose: Although the association between residential location and survival in patients with different cancer types has been established, the conclusions are contentious, and the underlying mechanisms remain unknown. Here, we reviewed the impact of residence on the survival of patients with glioblastoma (GBM). Methods: We conducted a retrospective study to compare the impact of rural and urban residence on the survival rates of patients with GBM diagnosed in Riyadh City and outside Riyadh. All patients in this study were treated in a tertiary care hospital, and their survival rates were analyzed in relation to their residence and other related factors, namely radiotherapy timing. Results: Overall, 125 patients were included: 61 from Riyadh City and 64 from outside. The majority of patients in both groups were aged >50 years (p = 0.814). There was no statistically significant difference between the groups in the Eastern Cooperative Oncology Group Performance Status (p = 0.430), seizure (p = 0.858), or initiation timing of radiotherapy (p = 0.781). Furthermore, the median survival rate in the Riyadh group versus the other group was 14.4 months and 12.2 months, respectively, with no statistical significance (p = 0.187). Conclusions: Our study showed that residential location had no significant effect on GBM prognosis. However, further studies with a larger sample size are required to delineate the other factors of referral within the healthcare system to facilitate the management of these patients within a specific timeframe.

8.
Curr Cardiol Rep ; 24(8): 979-985, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35751834

RESUMO

PURPOSE OF REVIEW: The current care model of type 2 diabetes (T2D) and its complications appears to be "asynchronous" with patient care divided by specialty. This model is associated with low use of guideline-directed medical therapies. RECENT FINDINGS: The use of integrated care models has been well described in the management of patients with T2D; this usually includes an endocrinologist coupled with a nutritionist and nurse. However, physician-based care models are largely "asynchronous," whereby the patient requires multiple different siloed specialties to manage their health care. To date, there has been limited exploration of synchronous care delivery, i.e., whereby multi-comorbid patients with T2D are seen simultaneously by health care providers from endocrinology, cardiology, and nephrology to optimize use of guideline-directed medical therapies (GDMT). Given the rising complexity of patients with T2D, further research is needed on the role of synchronous health care delivery in optimizing the use of GDMT and improving patient outcomes.


Assuntos
Sistema Cardiovascular , Diabetes Mellitus Tipo 2 , Comorbidade , Atenção à Saúde , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/terapia , Humanos
9.
Cureus ; 14(4): e23876, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35530881

RESUMO

Objectives This study aims to determine the prevalence of the first carpometacarpal (CMC) joint osteoarthritis and Carpal Tunnel Syndrome (CTS) among dentists from different specialties in Saudi Arabia and their association with gender, years of practice, and weekly working hours. Materials and Methods In this cross-sectional study, 361 dentists in Saudi Arabia have completed an online questionnaire of three parts: demographic and health data, the Thumb Disability Exam (TDX), and the Boston Carpal Tunnel Syndrome Questionnaire (BCTQ). Univariate and multivariate analyses of logistic regression were performed to investigate the participants' predictors of the first CMC joint osteoarthritis and Carpal Tunnel Syndrome. The level of significance was set at α = 0.05 for all tests. Results Thumb disability was significantly associated with the female gender (aOR 2.21; 95 percent CI 1.31-3.56) and dentists aged 50 or older (aOR 9.63; 95 percent CI 1.05-88.47). The symptom severity scale (SSS) part of BCTQ was significantly associated with increased risk in the female gender (aOR 1.62; 95% CI 1.62-2.58). Limiting the clinical work to 10-20 hours per week showed a significant reduction in the odds of reporting CTS symptoms in SSS (aOR 0.44; 95% CI 0.21-0.90). CTS-related hand disability was more likely to be reported by the female gender (aOR 2.21; 95% CI 1.36-3.57) and less likely to be reported by endodontic specialists (aOR 0.15; 95% CI 0.04-0.58). Conclusion The female gender was significantly associated with first CMC joint osteoarthritis and CTS among dentists in Saudi Arabia. Other predictors were also identified in this cross-sectional study.

10.
Am Heart J ; 247: 76-89, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35143744

RESUMO

BACKGROUND: Renin-angiotensin aldosterone system inhibitors (RAASi) are commonly used among patients hospitalized with a severe acute respiratory syndrome coronavirus 2 infection coronavirus disease 2019 (COVID-19). We evaluated whether continuation versus discontinuation of RAASi were associated with short term clinical or biochemical outcomes. METHODS: The RAAS-COVID-19 trial was a randomized, open label study in adult patients previously treated with RAASi who are hospitalized with COVID-19 (NCT04508985). Participants were randomized 1:1 to discontinue or continue RAASi. The primary outcome was a global rank score calculated from baseline to day 7 (or discharge) incorporating clinical events and biomarker changes. Global rank scores were compared between groups using the Wilcoxon test statistic and the negative binomial test (using incident rate ratio [IRR]) and the intention-to-treat principle. RESULTS: Overall, 46 participants were enrolled; 21 participants were randomized to discontinue RAASi and 25 to continue. Patients' mean age was 71.5 years and 43.5% were female. Discontinuation of RAASi, versus continuation, resulted in a non-statistically different mean global rank score (discontinuation 6 [standard deviation [SD] 6.3] vs continuation 3.8 (SD 2.5); P = .60). The negative binomial analysis identified that discontinuation increased the risk of adverse outcomes (IRR 1.67 [95% CI 1.06-2.62]; P = .027); RAASi discontinuation increased brain natriuretic peptide levels (% change from baseline: +16.7% vs -27.5%; P = .024) and the incidence of acute heart failure (33% vs 4.2%, P = .016). CONCLUSION: RAASi continuation in participants hospitalized with COVID-19 appears safe; discontinuation increased brain natriuretic peptide levels and may increase risk of acute heart failure; where possible, RAASi should be continued.


Assuntos
COVID-19 , Insuficiência Cardíaca , Adulto , Idoso , Aldosterona , Antagonistas de Receptores de Angiotensina/efeitos adversos , Inibidores da Enzima Conversora de Angiotensina/efeitos adversos , Anti-Hipertensivos/uso terapêutico , Feminino , Insuficiência Cardíaca/tratamento farmacológico , Hospitais , Humanos , Peptídeo Natriurético Encefálico , Sistema Renina-Angiotensina
11.
Saudi Dent J ; 33(8): 937-943, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34938035

RESUMO

OBJECTIVES: This study aims to evaluate the effectiveness of topical fluoride application and diode laser-irradiation on the hardness of demineralized enamel and to evaluate the esthetic improvement of the white spot lesions (WSLs) using a visual analog scale (VAS). MATERIALS AND METHODS: Artificial WSLs (3x3 mm) were created on the enamel surface of 45 human third molars. The teeth were randomly assigned into three groups (n = 15): group A, fluoride only; group B, combined therapy of fluoride and diode laser; and group C, control. Vicker's hardness number (VHN) was measured at baseline, after demineralization and after treatment. To evaluate the esthetic improvement after treatment, 14 raters evaluated each group's photographs using a 100-millimeter VAS. A one-way ANOVA or Brown-Forsythe and Games-Howell post hoc procedure were performed for statistical analysis. The level of significance was set at α = 0.05 for all tests. RESULTS: Group A mean VHN was significantly higher than groups B and C, and group B was significantly higher than group C (P < 0.05). However, the mean VAS rating for the combined therapy group (B) was significantly higher than that for groups A and C (P < 0.05). CONCLUSION: Combination therapy significantly improved the esthetic appearance of WSLs compared to the fluoride only group. However, there was less enamel hardness versus treatment with fluoride only.

12.
Ann Thorac Med ; 16(3): 266-273, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34484442

RESUMO

CONTEXT: Coronavirus disease 2019 (COVID-19) has put a spotlight on point-of-care diagnostic lung ultrasound (POCDLUS). However, the spectra of respiratory disease and resources available for investigation vary internationally. The applicability of POCDLUS to internal medicine (IM) practice in Saudi Arabia and the current use by Saudi physicians are unknown. AIMS: The aim of the present study was to determine the applicability of POCDLUS to IM practice in Saudi Arabia and quantify the residents' current skills, accreditation, and use of POCDLUS. METHODS: A questionnaire was distributed to the IM residents at our institution to assess their knowledge, use of POCDLUS, and their perceptions of its applicability in IM. STATISTICAL ANALYSIS: Standard descriptive statistical techniques were used. Categorical data, presented as frequency, were compared using the Chi-squared test. The Likert scale responses, presented as mean ± standard deviation, were compared with a Student's t-test. RESULTS: In total, 100 residents participated (response rate 92.6%) and reported that POCDLUS was applicable to their practice. Identifying pleural effusions was most applicable. A small proportion (n = 7) had received training, nine used POCDLUS regularly, none were accredited and the overall self-reported level of knowledge was poor. CONCLUSIONS: Whilst POCDLUS is applicable to IM practice in Saudi Arabia, the significant skills gap preclude the provision of a POCDLUS service. As COVID-19 can cause an interstitial syndrome, our pandemic preparation response should include POCDLUS training. The current study is supported by a similar Canadian study and the international standardisation of POCDLUS training may be feasible. The findings of the current study may facilitate the development of POCDLUS training programs for internists throughout Saudi Arabia.

13.
Saudi J Biol Sci ; 28(8): 4626-4632, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34354449

RESUMO

BACKGROUND: Group-specific component (GC) and cytochrome P450 Family 2 Subfamily R Member 1 (CYP2R1) genes are one of the vital genes involved in the vitamin D (vitD) metabolic pathway. Association of genetic polymorphisms in these two genes with 25-hyroxyvitamin D (25(OH)D) level has been reported in several studies. However, this association has been reported to be discrepant among populations from different ethnicities. Therefore, we aimed in this study to investigate association of the two major single nucleotide polymorphisms (SNP) in GC (rs4588 and rs7014) and a SNP (rs12794714) in CYP2R1 in postmenopausal women in Saudi Arabia. METHODS: This study randomly selected 459 postmenopausal women (aged ≥50 years) of multiple ethnicities in Jeddah, Saudi Arabia. Blood samples were collected from all participating women for DNA extraction and for assessment of serum levels of total 25(OH)D, directly measured free 25(OH)D and other biochemical parameters. SNPs in selected vitD related genes (rs4588 in GC, c.1364G > T with transcript ID: NM_001204307.1 and rs7041 in GC, c.1353A > C with transcript ID NM_001204307.1 and rs12794714 in CYP2R1, c.177G > A with transcript ID NM_024514.4) were determined in DNA samples using Sanger DNA sequencing. RESULTS: Minor allele frequency for rs4588, rs7041 and rs12794714 were 0.25, 0.44 and 0.42 respectively. Genotypes of rs7041 showed significant difference in total 25(OH)D level but not in free 25(O)D level (P = 0.023). In comparison, genotypes of rs4588 and rs12794714 did not show any significant difference neither in total nor in free 25(OH)D level. Post hoc test revealed that total 25(OH)D was lower in the rs7041 TT allele compared to the GG allele (P = 0.022). Chi-square test showed that vitD status was associated with rs7041 genotypes (P = 0.035). In addition, rs7041 minor alleles were found to have an association with vitD deficiency with a statistical significant odds ratio (>1) of 2.24 and 3.51 with P = 0.006 and P = 0.007 for TG and GG genotypes respectively. CONCLUSION: The rs7041 SNP in GC was associated with total 25(OH)D level in postmenopausal women in Saudi Arabia, while rs4588 in GC and rs12794714 in CYP2R1 did not show association with total 25(OH)D. Further studies exploring additional variants in vitD related genes are needed to understand genetic factors underlying vitD deficiency in Saudi population.

14.
J Family Med Prim Care ; 10(4): 1737-1740, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34123921

RESUMO

BACKGROUND: The novel corona virus disease, also known as COVID-19, has emerged as a major health concern globally. Its association with comorbid condition has increased its mortality. Diabetes mellitus (DM) is associated with increased risk of infection in comparison to general population. This risk is higher in type 1 DM that type 2 DM. METHODS: A cross sectional study was done in T1DM patients in whom a structured questionnaire was administered after lockdown. Data regarding social demographical variables, Information regarding sugar levels, psychological effects, changes in weight, exercise habits and other variables were included in the validated, electronic questionnaire. Ethic approval was obtained from the Diabetic center Abha, study duration was from January-2020 to October-2020. RESULTS: Out of 143 total patients (46.9%) were males while 53.1% were females. Mean ± S.D of age was obtained 29.6 ± 1.8. [Figure 1] depicted that 23% of the respondents were effected psychologically. [Figure 2] depicted that 80.4% used insulin as a treatment. [Figure 3] depicted that 8% of the respondents make an emergency visit to the health care centers for high rise in diabetes during lockdown. CONCLUSION: COVID-19 and the lockdown affected the management of T1DM. It resulted in changes in lifestyle, compliance to medication, and psychological impact on the participant.

15.
Saudi J Biol Sci ; 27(11): 3125-3131, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33100873

RESUMO

Intellectual developmental disorder with abnormal behavior, microcephaly and short stature (IDDABS), (OMIM# 618342) is an autosomal recessive condition described as developmental delay, poor or absent speech, intellectual disability, short stature, mild to progressive microcephaly, delayed psychomotor development, hyperactivity, seizure, along with mild to swear aggressive behavior. Homozygous frameshift mutation in Pseudouridine Synthase 7, Putative; (PUS7) OMIM# 616,261 NM_019042.3 and splice acceptor variants in Alpha-Aminoadipic Semialdehyde Synthase; (AASS) OMIM# 605,113 NM_005763.3 was funded. Whole exome sequencing (WES) technique was used as tool to identify the molecular diagnostic test. Different bioinformatics analysis done for WES data and we identified two novel mutations one as frameshift mutation c.606_607delGA, p.Ser282CysfsTer9 in the PUS7 gene and splice acceptor variants c.1767-1 G > A in the AASS gene has been reported. The pattern of family segregation maintained the pathogenicity of this variation associated with abnormal behavior, intellectual developmental disorder, microcephaly along with short stature IDDABS. Further, the WES data was validated in the family having other affected individuals and healthy controls (n = 100) was done using Sanger sequencing. Finally, our results further explained the role of WES in the disease diagnosis and elucidated that the mutation in PUS7 and AASS genes may lead an important role for the development of IDDABS in Saudi family.

16.
Front Genet ; 11: 368, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32457794

RESUMO

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant condition characterized by delayed psychomotor development, intellectual disability, delayed speech, and dysmorphic facial features, mostly ptosis. Heterozygous mutations in bromodomain and plant homeodomain (PHD) finger containing one (BRPF1) gene have been reported. In this study, whole exome sequencing (WES) was performed as a molecular diagnostic test. Bioinformatics of WES data and candidate gene prioritization identified a novel variant in heterozygous state in the exon 3 of BRPF1 gene (ENST383829: c.1054G > C and p.Val352Leu). Autosomal dominant inheritance in the family affected individuals and exclusion of non-pathogenicity in the ethnically matched healthy controls (n = 100) were performed by Sanger sequencing. To the best of our knowledge, this is the first evidence of BRPF1 variant in a Saudi family. Whole exome sequencing analysis has been proven as a valuable tool in the molecular diagnostics. Our findings further expand the role of WES in efficient disease diagnosis in Arab families and explained that the mutation in BRPF1 gene plays an important role for the development of IDDFP syndrome.

17.
Int J Surg Case Rep ; 67: 39-41, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32004902

RESUMO

INTRODUCTION: Heterotopic pancreas, also known as ectopic pancreas, is defined as the presence of pancreatic tissue outside its normal location and without anatomic and vascular continuity with the main body of the pancreas. The incidence of heterotopic pancreas has been reported as 0.5 % during laparotomies and at autopsy ranging from 0.6-14 %. PRESENTATION OF CASE: A 28 years old obese male, medically free electively admitted for laparoscopic sleeve gastrectomy. Intraoperatively after dissecting the greater omentum from the stomach and inserting the 36 Fr gastric bougie, small oval shape mass about 1 cm close to the lesser curvature on the anterior surface of the gastric antrum. Macroscopically benign looking and a thorough laparoscopic exploration showed no signs of other organs involvement. Antrectomy and mini gastric bypass done. The postoperative course was uneventful. The histopathological examination of the antrectomy specimen showed heterotopic pancreas in the subserosa of gastric antrum. DISCUSSION: The Heterotopic pancreatic tissue can be discovered in the stomach (particularly antrum), duodenum, jejunum, or a Meckel diverticulum. Surgical resection is the mainstay treatment if the heterotopic pancreas is symptomatic or when the lesion is found incidentally during surgery in order to prevent complications. CONCLUSION: Heterotopic pancreas should always be considered in the differential diagnosis of incidentally found gastric lesions and can be safely resected. This is the first case report of gastric heterotopic pancreas which is found incidentally during a bariatric surgery procedure.

18.
J Saudi Heart Assoc ; 32(4): 464-471, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33537193

RESUMO

CONTEXT: Coronavirus Disease 2019 (COVID-19) put a spotlight on focused cardiac ultrasound (FoCUS). However, the spectra of cardiac disease, and the resources available for investigation vary internationally. The applicability of FoCUS to internal medicine (IM) and critical care medicine (CCM) practice in Saudi Arabia and their current use of FoCUS are unknown. AIMS: To determine the applicability of FoCUS to IM and CCM practice in Saudi Arabia and quantify the residents' current proficiency, accreditation and use of FoCUS. METHODS: A questionnaire was distributed to the residents in IM and CCM at our institution to determine their proficiency, use of FoCUS, and perceptions of its applicability. RESULTS: In total, 110 residents (IM 100/108; CCM 10/10) participated (Response rate 93.2%) and reported that FoCUS was very applicable to their practice, most specifically for pericardial effusion, right heart strain, and left ventricular function. Two IM residents had received postgraduate training, ten used FoCUS regularly, none were accredited and overall self-reported proficiency was poor. In contrast all CCM residents had received postgraduate training and reported regular use of FoCUS. Two were accredited. CONCLUSIONS: Whilst FoCUS is applicable to IM practice in Saudi Arabia, significant skills gaps exist. The skills gap in CCM is lower but unaccredited practice is common. Our residents' responses were similar to those from Canada. Thus, international standardization of FoCUS training could be considered.

19.
Gen Dent ; 67(6): 45-51, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31658024

RESUMO

This study evaluated the effectiveness of diode laser irradiation combined with topical fluoride application for increasing the hardness of demineralized bovine enamel and esthetically improving white-spot lesions (WSLs). In addition, the study evaluated intrapulpal temperature changes during laser irradiation. One hundred twenty bovine incisors with 4 × 4-mm artificial WSLs were randomly assigned to 8 groups (n = 15): untreated control; fluoride only; LF1, LF2, and LF3, fluoride plus 2-W laser for 15, 30, and 60 seconds, respectively; and LF4, LF5, and LF6, fluoride plus 5-W laser for 15, 30, and 60 seconds, respectively. The Vickers hardness number, CIE L*a*b color space values, and visual analog scale ratings for color improvement were recorded at baseline, after demineralization to create the WSLs, and after treatment. The intrapulpal temperature changes were recorded at completion of irradiation for 30 bovine teeth that were assigned to 6 groups (n = 5) to receive doses of irradiation equivalent to the treatment of the corresponding laser groups described previously. Statistical analysis included 1-way analysis of variance and Tukey multiple comparison tests (α = 0.05) The mean Vickers hardness numbers were significantly greater for the laser groups, and mean visual analog scale scores were significantly greater for all the treatment groups (P < 0.05). The fluoride group had a significantly lower mean color change (ΔE*) value (P < 0.05). The mean intrapulpal temperature changes in the 5-W laser groups were significantly greater than those in the 2-W groups (P < 0.05). Diode laser irradiation combined with topical fluoride application significantly increased the hardness and improved the esthetic appearance of WSLs compared to no treatment (control) and fluoride treatment alone. Intrapulpal temperature changes indicated that diode laser irradiation is safer at a 2-W setting than a 5-W setting.


Assuntos
Cárie Dentária , Esmalte Dentário , Fluoretos Tópicos , Lasers Semicondutores , Animais , Bovinos , Dureza
20.
Heliyon ; 5(5): e01566, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31193345

RESUMO

BACKGROUND: To investigate the relationship of fast food consumption with cognitive and metabolic function of adults (18-25 years old) in Riyadh, Kingdom of Saudi Arabia. MATERIALS AND METHOD: This cross-sectional study was conducted at the College of Medicine at King Khalid University Hospital, Riyadh, Saudi Arabia. The conventionally recruited subjects underwent an evaluation that included demographic data, quality of life (wellness, stress, sleepiness, and physical activity), mini-mental status examination, and the frequency of fast food consumption. To investigate metabolic function, blood was drawn to evaluate serum HDL, LDL, cholesterol, and triglyceride levels. Cognitive function was assessed by the Cambridge neuropsychological test automated battery. The participants were divided into 2 groups based on fast food consumption: those who consumed fast food 3 times per week or less (Group 1) and those who consumed fast food more than 3 times per week (Group 2). RESULTS: The mean diastolic blood pressure in Group 1 and Group 2 was 72 mmHg and 77 mmHg, respectively, a significant difference (p = 0.04). There was no significant difference for cognitive function and quality of life between the two groups. There was significant correlation of HDL with AST correct mean latency and the AST correct mean latency congruent (p = 0.02, p = 0.01, respectively) and TC with diastolic blood pressure (p = 0.003). CONCLUSIONS: We concluded that fast food consumption has an effect on blood pressure but has no direct effect on cognition or quality of life.

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