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1.
J Rheum Dis ; 31(3): 143-150, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38957362

RESUMO

Objective: To report the frequency of selected autoantibodies and their associations with clinical features in Arab children with monogenic lupus. Methods: This study was retrospective single-center study of genetically confirmed monogenic lupus cases at childhood lupus clinic at King Faisal Specialist Hospital and Research Center, from June 1997 to July 2022. We excluded familial lupus without genetic testing and patients with insufficient data. Collected data comprised clinical and laboratory findings, including the autoantibody profile, which included the anti-double-stranded DNA (anti-dsDNA), anti-Smith, anti-Sjögren's-syndrome-related antigen A (anti-SSA), anti-Sjögren's-syndrome-related antigen B (anti-SSB), and antiphospholipid (APL) antibodies. Also, disease activity and accrual disease damage were collected at the last follow-up visit. Results: This study enrolled 27 Arab patients (14 males) with a median age of 11 years (interquartile range 8.0~16 years), with 63% having early-onset disease. The consanguinity rate and family history of lupus were high (74.1% and 55.6%, respectively). The most frequent clinical features were hematological (96.3%), fever (81.5%), mucocutaneous lesions (85.2%), and renal (66.7%). The frequency of the APL antibodies was 59.3%, anti-dsDNA was 55.6%, and anti-Smith and anti-SSA were 48.2% and 44.4%, respectively. Moreover, dsDNA antibodies were significantly associated with musculoskeletal complaints (p<0.05). Likewise, both anti-Smith and anti-SSA antibodies were linked to failure to thrive and recurrent infections in the univariate analysis (p<0.05). Conclusion: Our study reveals autoantibody frequencies and their association with clinical and prognostic in a substantial monogenic lupus cohort. Distinct clinical manifestations and prognosis association with certain autoantibodies support the idea that monogenic lupus is a distinctive form of lupus. Larger studies needed to validate these findings.

2.
Clin Exp Rheumatol ; 2024 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-38976295

RESUMO

OBJECTIVES: IFN-mediated diseases are mendelian innate immunodysregulatory disorders that present early in life with fevers, sterile organ inflammation, and a high type-I IFN-response gene signature in peripheral blood cells. To date, monumental discoveries of novel genetic variants with various phenotypic features have been recognised. We aimed to describe the genotype and phenotype findings in Saudi children diagnosed with autoinflammatory interferonopathy and to report novel findings. METHODS: This is a descriptive retrospective cohort study of children with genetically confirmed type I interferonopathies. Medical records were reviewed for demographic, family history, clinical and laboratory data. All patients underwent genetic testing. RESULTS: A total of 20 patients (11 females) were included in the study. Sixteen patients (80%) presented within the first 2 years. The median age of disease onset was 0.87 years (IQR: 0.5-2) and the median age of diagnosis was 4.5 years (IQR: 2-7.5). The rates of consanguinity and family history of affected members were high (88% and 47%, respectively). Among the cohort of patients, whole exome sequencing was conducted for 15 patients. Three patients underwent targeted gene tests, and 2 patients had a leukoencephalopathy genetic panel. Eight patients were diagnosed with Aicardi-Goutières syndrome, attributed to variants in the RNASEH2A, RNASEH2C, and IFIH1 genes. Additionally, 2 patients were identified with STING-associated vasculopathy with onset in infancy linked to the TMEM173 variant. One patient exhibited chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature due to PSMB8, and another patient had DNase II. Moreover, 8 patients presented with rare interferonopathy conditions, including three with ISG15, 3 with ZNFX1, 1 with the SOCS1 variant, and 1 the STAT1 variant. Of 12 variants, six (50%) found to have novel genetic variants. The most frequent features were fever (75%), neurology (70%), mucocutaneous (60%), gastrointestinal (50%), and pulmonary (50%). Hypogammaglobinaemia and recurrent infections were seen in (45%) and (20%), respectively. Fifteen patients (75%) had elevated inflammatory markers. The majority of patients received intensive treatment, including corticosteroids, JAK inhibitors, IVIG, and various immunosuppressive agents. Despite these interventions, a partial response to treatment was observed, and cumulative disease damage primarily manifested as growth failure and developmental delay. CONCLUSIONS: Our findings support the previous reports; early-onset fever, neurology, and respiratory features should raise the suspicion of interferonopathies. However, there is eminent evidence of phenotypic variability. Our data also expanded the spectrum of clinical findings in relation to novel genetic variants.

3.
Food Chem Toxicol ; 190: 114788, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38849050

RESUMO

Chlorpyrifos (CPF) is a broad-spectrum insecticide widely employed in agricultural field for pest control. Exposure to CPF is associated with serious effects to the main organs, including kidneys. Significant evidence denotes that oxidative stress (OS) and inflammation are implicated in CPF toxicity. This study aimed to evaluate the potential of farnesol (FAR) to modulate inflammatory mediators and farnesoid-X-receptor (FXR) and Nrf2 in a rat model of CPF nephrotoxicity. CPF and FAR were orally supplemented for 28 days and blood and kidney samples were collected for investigations. CPF administration elevated blood creatinine and urea, kidney MDA and NO, and upregulated NF-κB p65, IL-1ß, TNF-α, iNOS, and caspase-3. In addition, CPF upregulated kidney Keap1, and decreased GSH, antioxidant enzymes, and Nrf2, FXR, HO-1 and NQO-1. FAR ameliorated creatinine and urea, prevented histopathological alterations, decreased MDA and NO, and enhanced antioxidants in CPF-administered rats. FAR modulated NF-κB p65, iNOS, TNF-α, IL-1ß, caspase-3, Keap1, HO-1, NQO-1, Nrf2 and FXR. In silico investigations revealed the binding affinity of FAR towards Keap1 and FXR, as well as NF-κB, caspase-3, iNOS, and HO-1. In conclusion, FAR prevents CPF-induced kidney injury by attenuating OS, inflammation, and apoptosis, effects associated with modulation of FXR, Nrf2/HO-1 signaling and antioxidants.


Assuntos
Clorpirifos , Farneseno Álcool , Rim , Fator 2 Relacionado a NF-E2 , Estresse Oxidativo , Receptores Citoplasmáticos e Nucleares , Animais , Estresse Oxidativo/efeitos dos fármacos , Fator 2 Relacionado a NF-E2/metabolismo , Clorpirifos/toxicidade , Masculino , Rim/efeitos dos fármacos , Rim/metabolismo , Rim/patologia , Ratos , Farneseno Álcool/farmacologia , Receptores Citoplasmáticos e Nucleares/metabolismo , Ratos Wistar , Mediadores da Inflamação/metabolismo , Inseticidas/toxicidade , Nefropatias/induzido quimicamente , Nefropatias/prevenção & controle , Nefropatias/metabolismo , Antioxidantes/farmacologia
4.
Mymensingh Med J ; 33(3): 856-860, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38944732

RESUMO

This was a multicenter cohort study to evaluate the relationship between radiological findings and disability in moderate and severe head injury patients. The study places were the Neurosurgery department of Sylhet M A G Osmani Medical College Hospital, Sylhet Women's Medical College Hospital (SWMCH) and King Faisal Hospital (KFH), Taif, KSA. Sample size was 104 and the study period was 36 months (July 2021 to December 2022). On the basis of radiological findings the participants were divided into three arms. The different arms were diffused traumatic brain injury (arm-1), focal traumatic brain injury (arm-2) and both (diffused and traumatic) types traumatic brain injury (arm-3). Outcome was assessed by modified Rankin Score (mRS). Mean age was significantly higher in female. Overall mean age was 40.28 year. Highest number was in the below 20-year age group followed by the 41-50-year age group. Lowest number of participants was in the above 60-year group. Improved group was significantly higher than 'not improved' and the 'died' group (p<0.00001). Improved participants were significantly higher in the arm-1 and arm-2. Mortality was significantly higher (p<0.00001) in the arm-3 group.


Assuntos
Traumatismos Craniocerebrais , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Masculino , Estudos de Coortes , Traumatismos Craniocerebrais/diagnóstico por imagem , Traumatismos Craniocerebrais/mortalidade , Adulto Jovem , Lesões Encefálicas Traumáticas/diagnóstico por imagem , Lesões Encefálicas Traumáticas/mortalidade , Adolescente , Idoso , Avaliação da Deficiência
5.
Cureus ; 16(5): e61243, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38939304

RESUMO

Background/aims Most countries have gone through lockdowns to varying degrees during the COVID-19 pandemic to reduce the spread of the disease. The successive pandemic waves have impacted the health system, imposing restrictions set by the government. This changed people's daily life routines and they felt more socially isolated, which in turn had an impact on their mental health. Some factors were linked to the severity and outcome of COVID-19 on patients. One of these factors was smoking. This study was carried out to investigate the prevalence and impact of lockdown on smoking habits, as well as the changes in attitudes, behavior, and the rate of consumption before and after the government restrictions in the general population of Saudi Arabia. Materials and methods The present cross-sectional study was conducted on a sample of 921 participants from the general population of Saudi Arabia. Data were collected via an online questionnaire. A structured self-response questionnaire was given to the participants after institutional research ethical approval was obtained for the study. Results A total of 921 participants from the smoker population of Saudi Arabia were included in the study. The majority of participants were male (72.9%), and more than half were aged between 18 and 34 years (53.7%). Single individuals had a higher prevalence of increased smoking and a lower rate of quitting compared to married individuals. Participants with higher education levels were more likely to continue smoking at the same rate. While 40.5% of participants reported no change in their smoking rate during the pandemic, 15.4% reported a decrease, 39.0% reported an increase, and 5.1% reported quitting smoking. Participants who reported feeling more stressed during the pandemic had a higher prevalence of increased smoking. The majority of participants believed that smoking increased the risk of COVID-19 infection. Conclusion The study highlights the need for targeted smoking cessation interventions and support services during the pandemic, considering demographic factors, living arrangements, and psychological impact. Efforts should be made to raise awareness about the negative health consequences of smoking during the pandemic and provide resources for stress management and alternative coping strategies. These findings have important implications for public health interventions and policies in Saudi Arabia.

6.
Vet World ; 17(4): 842-847, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38798290

RESUMO

Background and Aim: Query fever (Q fever) is an endemic zoonotic disease and ruminants are considered to be the primary source of infection in humans. It is caused by Coxiella burnetii which is an obligate intracellular bacterial pathogen with a worldwide distribution. This study estimated the prevalence of Q fever in livestock with a history of abortion in Makkah Province, Saudi Arabia. Material and Methods: Sera from 341 camels, 326 sheep, and 121 goats of either sex from various locations (Makkah, Jeddah, AL-Taif, AL-Qunfudah, AL-Laith, and AL-Kamil) were examined using a Q fever indirect enzyme-linked immunosorbent assay. Results: Among the 788 serum samples, 356 animals had anti-Coxiella burnetii immunoglobulin G antibodies with an overall seroprevalence of 45.4%. Significant differences were observed in seroprevalence between species and locations. Camels had the highest percentage of Q fever-positive sera, with a prevalence of 50.4%, followed by goats (44.6%) and sheep (36.8%), with a high significant difference between animals (p = 0.000). The prevalence was significantly higher in Makkah (65.4%) than in Jeddah (28.8%). Conclusion: C. burnetii infection is prevalent in agricultural animals, especially camels maintained at livestock farms in Makkah province. Therefore, these animals considered as the main source of Q fever infections in Saudi Arabia, which is also a reason for the abortion in these animals. Therefore, there is an urgent need for further studies on Q fever infection with interventional approaches for prevention and control.

7.
Antibiotics (Basel) ; 13(5)2024 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-38786154

RESUMO

Valley surface water is considered a focal public health concern owing to the presence of multi-drug-resistant bacteria. The distribution of antimicrobial resistance (AMR) bacteria in the surface water is affected by the presence of multiple factors, including antibiotics coming from wastewater discharge or other contaminant sources such as pharmaceuticals, biocides, and heavy metals. Furthermore, there is evidence suggesting that high levels of antibiotic resistance genes (ARGs) can be transferred within bacterial communities under the influence of heavy metal stress. Hence, the primary aim of this study is to investigate the presence of heavy metals and bacterial ARGs in upstream as well as downstream locations of Wadi Hanifah Valley in Riyadh, Saudi Arabia. Sample collection was conducted at eighteen surface water sites within the valley in total. The selection of ARGs was associated with the most common antibiotics, including ß-lactam, tetracycline, erythromycin, gentamicin, sulphonamide, chloramphenicol, vancomycin, trimethoprim, and colistin antibiotics, which were detected qualitatively using polymerase chain reaction (PCR) technology. The tested antibiotic resistance genes (ARGs) included (blaNDM-1 (for the antibiotic class Beta-lactamases), mecA (methicillin-resistant Staphylococcus aureus), tet(M) and tet(B) (for the antibiotic class Tetracycline), ampC (for the antibiotic class Beta-lactamases), vanA (for the antibiotic class vancomycin), mcr-1 (for the antibiotic class colistin), erm(B) (for the antibiotic class erythromycin), aac6'-Ie-aph2-Ia (for the antibiotic class Gentamicin), sulII (for the antibiotic class sulphonamide), catII (for the antibiotic class Chlorophincol), and dfrA1 (for the antibiotic class trimethoprim). Moreover, an assessment of the levels of heavy metals such as lithium (Li), beryllium (Be), chromium (Cr), cobalt (Co), arsenic (As), cadmium (Cd), tin (Sn), mercury (Hg), and lead (Pb) was conducted by using inductively coupled plasma mass spectrometry (ICPMS). According to our findings, the concentrations of sulphonamide, erythromycin, and chloramphenicol ARGs (erm(B), sulII, and catII) were observed to be the most elevated. Conversely, two ARGs, namely mecA and mcr-1, were not detected in the samples. Moreover, our data illustrated a significant rise in ARGs in the bacteria of water samples from the upstream sites as compared with the water samples from the downstream sites of Wadi Hanifah Valley. The mean concentration of Li, Be, Cr, Co, As, Cd, Sn, Hg, and Pb in the water samples was estimated to be 37.25 µg/L, 0.02 µg/L, 0.56 µg/L,0.32 µg/L, 0.93 µg/L, 0.01 µg/L, 200.4 µg/L, 0.027 µg/L, and 0.26 µg/L, respectively, for the selected 18 sites. Furthermore, it was revealed that the concentrations of the screened heavy metals in the water samples collected from various sites did not surpass the maximum limits set by the World Health Organization (WHO). In conclusion, this study offers a concise overview of the presence of heavy metals and ARGs in water samples obtained from the Wadi Hanifah Valley in Riyadh, KSA. Such findings will contribute to the ongoing monitoring and future risk assessment of ARGs spread in surface water.

8.
Ocul Immunol Inflamm ; : 1-8, 2024 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-38776468

RESUMO

PURPOSE: To describe long-term efficacy and safety of oral valganciclovir in the treatment of presumed cytomegalovirus (CMV) unilateral hypertensive anterior uveitis. METHODS: Retrospective review of 40 patients (40 eyes). RESULTS: All patients presented with high intraocular pressure (mean 39.35 ± 7.58 mmHg), associated with signs of mild anterior uveitis. Oral valganciclovir resulted in control of the intraocular pressures and inflammation in 35 eyes. At the dose of ≥450 mg twice daily, no relapses were documented. The follow-up period ranged from 12 to 108 months (24.45 ± 14.56). At the final follow-up, the intraocular pressure was reduced to 14.92 ± 2.43 mmHg (<0.001). Drug-related complications in the form of leukopenia and azoospermia were reported in one patient. CONCLUSIONS: Oral valganciclovir effectively and safely controls intraocular pressure and inflammation in presumed CMV anterior uveitis. A long-term treatment course seems necessary.

9.
Med Princ Pract ; 2024 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-38569485

RESUMO

INTRODUCTION: The robotic platform compared to laparoscopy has proven to have similar postoperative outcomes, however its adoption in the Middle East has been slow and there is limited data regarding outcomes with its use in small newly established robotic colorectal programs. Our aim was to report our experience and outcomes of robotic colorectal surgery performed by fellowship-trained robotic colorectal surgeons and compare them to larger, more experienced centers. METHODS: This is retrospective review of data collected between November 2021 and March 2023 from a tertiary health care referral center. The series included 51 patients who had elective or urgent robotic colorectal surgery. Patients who had emergency surgery were excluded. The outcomes were overall morbidity, serious morbidity, mortality, conversion to open, length of hospital stay, and quality of oncological specimen. RESULTS: The overall morbidity was 31.4% (n = 16 patients). Only 9.8% (n = 5) had serious morbidity of which three required interventions under general anesthesia. The median length of hospital stay was 6 days (IQR = 4), and there was no mortality. Of 17 rectal cancer resections, 88% had complete mesorectal excision, 15 of them were R0 resections, median lymph node harvested was 14 (IQR = 7) and two cases were converted to open. All the colon cancer resections had R0 resection, median lymph nodes harvested was 21 (IQR = 4) and none were converted to open. CONCLUSIONS: The implementation and integration of robotic colorectal surgery at a newly established center in a small country, when led by fellowship trained robotic colorectal surgeons, is safe and effective in terms of morbidity, mortality, conversion to open and specimen pathological quality.

10.
Ophthalmol Retina ; 2024 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-38556002

RESUMO

PURPOSE: To describe the rate, characteristics, and outcomes of rhegmatogenous retinal detachment (RD) in patients with Knobloch syndrome. DESIGN: A single-center retrospective cohort study. PARTICIPANTS: Fifty patients with Knobloch syndrome diagnosed clinically, with or without molecular confirmation of recessive pathogenic COL18A1 variants. METHODS: A retrospective chart review of all patients diagnosed with Knobloch syndrome from November 1, 1983 to March 31, 2023. Demographic data, ophthalmic evaluation at baseline and follow-up, interventions, and final anatomic and visual outcomes were collected. MAIN OUTCOME MEASURES: Rate, time of onset, characteristics, and treatment outcomes of RD. RESULTS: Fifty patients with Knobloch syndrome were included. Males constituted 56% of cases. The diagnosis was confirmed with molecular genetic testing in 37 (74%) patients. Twenty-two patients (44%) had documented occipital bony defects or scalp lesions. Forty-eight of 100 eyes (48%) developed RD at a mean (standard deviation [SD]) age of 6.5 (6.1) years. The mean (SD) follow-up was 7.7 (5.6) years (range, 6 months to 24.3 years). Macular hole-related RD comprised 33% of RD cases. The overall single-surgery success rate was 36% and the final anatomic success rate was 70%. Macular hole-related RD carried a slightly worse prognosis with a 58% final anatomic success rate. Vitrectomy with adjunct scleral buckle and silicone oil tamponade provided the highest single-surgery success (62.2%). In eyes with measurable best-corrected visual acuity (BCVA), the mean preoperative BCVA was 1.2 logarithm of the minimum angle of resolution (Snellen equivalent, 20/320). After successful repair, mean visual acuity was 1.3 logarithm of the minimum angle of resolution (Snellen equivalent, 20/500). CONCLUSIONS: Retinal detachment in Knobloch syndrome is frequent and occurs in young children. Macular hole-related RD comprises one third of RD cases and requires careful macular evaluation. Vitrectomy, combined with scleral buckling and silicone oil tamponade, appears to provide the best anatomic outcomes. FINANCIAL DISCLOSURES: The authors have no proprietary or commercial interest in any materials discussed in this article.

11.
Lupus ; 33(6): 629-637, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38533912

RESUMO

OBJECTIVE: To assess the performance of the new EULAR/ACR criteria, particularly for early detection of cSLE, in comparison to the SLICC criteria among the pediatric population in multiple centers in Saudi Arabia. METHODS: We conducted a retrospective study that enrolled pediatric patients up to the age of 14 years who've been diagnosed with SLE and followed in pediatric rheumatology clinics at 9 multi-tertiary hospitals in Saudi Arabia from 2010 to 2021 as a case group and were compared to a similar group of pediatric patients who've had defined rheumatological diseases other than SLE with a positive ANA titer (≥1:80) as controls. In total, 245 patients were included and distributed as 129 cases (diagnosed by expert pediatric rheumatologists) versus 116 patients in the control group. All relevant clinical information, including history, physical examination findings, and laboratory tests, was documented at the initial presentations. Then, the two sets of SLE classification criteria were applied to both groups to define who's going to meet both or either one of them. The exclusion criteria included those who had insufficient data or had overlapping or undifferentiated diseases. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), receiver operating curve (ROC), and accuracy were calculated for SLICC 2012 and EULAR/ACR 2019 criteria (total scores≥ 10 and ≥ 13). We performed a Chi-squared test to compare sensitivity and specificity of SLICC 2012 and EULAR/ACR 2019. RESULTS: For SLICC (cut-off ≥4 criteria), the sensitivity was found to be 96.9% (95% CI 92.6%-99.4%) and the specificity was 94.8% (95% CI 89.6%-98.32%), with PPV and NPV of 95.4% and 96.5%, respectively. The ROC for it was 0.96 (95% CI 0.93-0.99), and this criterion had an accuracy of 95%. Regarding EULAR/ACR (total score ≥ 10), the performance measure showed a sensitivity of 99.2% and a specificity of 86.2%. Similarly, PPV was 88.9%; while NPV was a little higher (99.0%) than SLICC. The ROC for EULAR/ACR (total score ≥ 10) was 0.93 (95% CI 0.89-0.96), and this criterion had an accuracy of 93%. However, there was no statistically significant difference between the sensitivity and specificity of either using SLICC or EULAR/ACR (total score ≥ 10), as reflected by a p-value of 0.86 using the Chi-squared test. Although applying the EULAR/ACR with a total score of ≥ 13 revealed lower sensitivity (93.8%) than both the SLICC and the EULAR/ACR (total score ≥ 10), the specificity for it was found to increase up to 91.4% (85.7-96.2%) compared to the (86.2%) specificity of the EULAR/ACR (total score ≥ 10). CONCLUSION: In this cohort among the Saudi population with childhood-onset SLE, the new EULAR/ACR 2019 criteria efficiently enable early detection of SLE, although a more frequent rate of false positives was observed with them. Escalating the total score from ≥ 10 to ≥ 13 in the cSLE population improved the specificity close to that of SLICC 2012. Further prospective studies in pediatrics need to be done for the validation of a cut- off score of ≥ 13 in cSLE rather than the traditional score of ≥ 10 in aSLE.


Assuntos
Lúpus Eritematoso Sistêmico , Doenças Reumáticas , Reumatologia , Humanos , Criança , Estados Unidos , Adolescente , Lúpus Eritematoso Sistêmico/diagnóstico , Estudos Retrospectivos , Estudos Prospectivos
12.
Ophthalmol Retina ; 8(2): 155-162, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37678612

RESUMO

PURPOSE: To describe the ocular and renal features, as well as outcomes of retinal detachment repair, in patients with a novel, homozygous laminin ß-2 (LAMB2) pathogenic variant. DESIGN: Single-center retrospective chart review of patients with a homozygous variant, c.619T>C p.(Ser207Pro), in the LAMB2 gene. SUBJECTS: Eleven patients (22 eyes) from 4 families. METHODS: Demographic data and ocular findings were recorded. Patients were recalled for a detailed renal evaluation. MAIN OUTCOME MEASURES: Ocular features, renal features, and outcomes of retinal detachment repair. RESULTS: The mean age at presentation was 6.0 (range, 1-26) years. None of the study eyes had microcoria, and none of the patients had nephrotic-range proteinuria. The mean refraction and axial length were -7.9 diopters (range, -4.0 to -12.0 diopters) and 25.3 (range, 22.7-27.7) mm, respectively. Eleven eyes (50%) had cataract at presentation. Fifteen eyes had a clear view to the fundus and all showed tessellated myopic fundus, avascular peripheral retina evident clinically or on fluorescein angiography, and rudimentary fovea. Optic disc pallor was observed in 10 eyes (66.7%). Straightened retinal vessels, abnormal vascular emanation (situs inversus) from the optic disc, supernumerary vascular branching at the optic disc, and vascular tortuosity were observed in 10 (66.7%), 2 (13.4%), 2 (13.4%), and 2 (13.4%) eyes, respectively. Discrete areas of punched-out chorioretinal atrophy were observed in 4 (26.7%) eyes. Spectral-domain OCT showed retinal and choroidal thinning in 13 eyes (86.7%), retinoschisis temporal to the fovea in 2 eyes (13.4%), and rudimentary fovea in 15 eyes (100%). Among the 22 eyes, 14 eyes (63.6%) developed rhegmatogenous retinal detachment (RRD), mostly during childhood, of which 5 patients had bilateral RRD. Eight eyes were operated on and 6 (75%) achieved retinal reattachment at the last follow-up. The mean preoperative visual acuity was 20/300 and the mean postoperative visual acuity at the last follow-up was 20/400. CONCLUSIONS: This study describes a distinct phenotype of LAMB2-related disease with a novel, homozygous LAMB2 variant, and further expands the spectrum of ophthalmic and renal features, and the molecular genetic basis, of LAMB2-related disease. Because the typical microcoria and nephrotic-range proteinuria might be absent, the retinal features can guide the diagnosis. FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any materials discussed in this article.


Assuntos
Anormalidades do Olho , Miopia , Descolamento Retiniano , Adolescente , Adulto , Criança , Pré-Escolar , Humanos , Lactente , Adulto Jovem , Miopia/complicações , Proteinúria/complicações , Proteinúria/patologia , Retina/patologia , Descolamento Retiniano/etiologia , Descolamento Retiniano/genética , Estudos Retrospectivos
13.
Clin Rheumatol ; 43(2): 765-774, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38012468

RESUMO

BACKGROUND: Burnout is frequent among physicians and seems to be underestimated among rheumatologists. OBJECTIVE: To estimate the frequency of burnout in a sample of rheumatologists practising in the Arab countries and determine its associated factors. METHODS: This was a descriptive cross-sectional study conducted by the Arab League of Associations for Rheumatology (ArLAR research group) using an anonymous electronic questionnaire set up on the Google Forms platform. All Arab rheumatologists and rheumatology fellows were invited to participate in the spring of 2022 via ArLAR social media accounts, societies' WhatsApp groups, and mass emails. Burnout was defined by at least one positive domain of the Maslach Burnout Inventory (MBI) (Emotional exhaustion, Depersonalization, and Personal accomplishment). The final score was correlated to socio-demographic factors using a multivariable binary logistic regression. RESULTS: The study included 445 rheumatologists and rheumatology fellows with an average age of 45.2 years (SD 11.5); 61.8% were men. The frequency of burnout among rheumatologists was 61.3% and was driven by low personal accomplishment scores (58.1%). Younger age (OR 1.92 (95%CI 1.20-3.08)), dissatisfaction with the specialty (OR 2.036 (95% CI 1.20-3.46)), and low income (OR 2.26 (95% CI 1.01-5.10)) were associated with burnout. CONCLUSION: The frequency of burnout in a sample of rheumatologists in Arab countries is very high, driven by low personal accomplishment scores and associated with a low income, dissatisfaction with the specialty and younger age. Some associated factors might be modifiable, thus reducing the burden of burnout on rheumatologists and on the healthcare system. Key Points • The frequency of burnout in a sample of Arab rheumatologists was 61.3% according to the MBI. • The score was mainly driven by low personal accomplishment scores (58.1%). • Younger age, dissatisfaction with the specialty, and low income were associated with burnout. • Acting upon modifiable risk factors would help reducing the burden of burnout on rheumatologists and on the healthcare system.


Assuntos
Esgotamento Profissional , Testes Psicológicos , Reumatologia , Autorrelato , Masculino , Humanos , Pessoa de Meia-Idade , Feminino , Reumatologistas , Estudos Transversais , Árabes , Esgotamento Psicológico , Esgotamento Profissional/epidemiologia , Esgotamento Profissional/psicologia , Inquéritos e Questionários
14.
Clin Rheumatol ; 43(3): 863-877, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38079010

RESUMO

Biologic agents are increasingly being used to treat adult patients with systemic lupus erythematosus (SLE). However, the available data on biologic agents' use in childhood-onset SLE (cSLE) remains limited. To collate available evidence related to the efficacy and safety of using biologic agents in cSLE. The study followed the PRISMA checklist for reporting the data and conducted a thorough search using PubMed, Cochrane Library, and Scopus from January 2005 to August 2023. Only articles meeting specific criteria were included, focusing on cSLE, the use of biologic agents, and having outcome measures at six- and 12-month follow-ups for safety and efficacy. Case reports were excluded, and four independent reviewers screened the articles for accuracy, with a fifth reviewer resolving any discrepancies that arose to achieve a consensus. The final selection included 18 studies with a total of 593 patients treated with biologic agents for severe and/ or refractory cSLE. The most common indication for using biologic agents was lupus nephritis. Rituximab was used in 12 studies, while belimumab was used in six studies. The studies evaluated the efficacy of biologic agents based on SLE disease activity scores, laboratory parameter improvements, and reduced corticosteroid dosage. Positive outcomes were reported, with improvements in renal, hematologic, and immunologic parameters along with mild adverse effects, mostly related to mild infections and infusion reactions. Belimumab and rituximab have shown promise as potential treatments for severe and refractory cSLE cases, leading to decreased disease activity and complete or partial remission in many patients with an acceptable safety profile. However, further research is needed to better understand their benefits and potential risks in these patients. Key Points • This review emphasizes the lack of sufficient randomized controlled trials exploring the use of biologics in childhood systemic lupus erythematosus (cSLE). • Treatment plans for cSLE are being derived from those used for adult systemic lupus erythematosus. • According to current evidence, belimumab and rituximab can be potential treatment options for refractory and severe cases of cSLE. • Additional studies are required to reach more definitive conclusions.


Assuntos
Produtos Biológicos , Lúpus Eritematoso Sistêmico , Nefrite Lúpica , Adulto , Humanos , Rituximab/efeitos adversos , Produtos Biológicos/uso terapêutico , Resultado do Tratamento , Nefrite Lúpica/terapia
16.
Metab Brain Dis ; 39(1): 77-88, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38129732

RESUMO

Neuro-oncological and neurodegenerative disorders, represented paradigmatically by glioblastoma and Alzheimer's disease, respectively, persist as formidable challenges in the biomedical realm. The interconnected molecular underpinnings of these conditions necessitate rigorous and novel therapeutic examinations. This comprehensive research was anchored on the premise of unveiling the therapeutic potential and specificity of Lupenone, a potent phytoconstituent, in targeting the molecular pathways underpinning both glioblastoma and Alzheimer's amyloid beta pathology. This was gauged through its interactions with key protein structures, 5H08 and 2ZHV. An integrative approach was adopted, marrying advanced proteomics and modern computer-aided drug design techniques. Molecular docking of Lupenone with 5H08 and 2ZHV was meticulously executed, with subsequent molecular dynamics simulations providing insights into the stability, viability, and intricacies of these interactions. Lupenone demonstrated profound binding affinities, evidenced by robust docking scores of -9.54 kcal/mol for 5H08 and -10.59 kcal/mol for 2ZHV. These interactions underscored Lupenone's eminent therapeutic potential in mitigating glioblastoma and modulating the amyloid beta pathology inherent to Alzheimer's. The introduction of Proteolysis Targeting Chimeras (PROTACs) further magnified the therapeutic prospects, accentuating Lupenone's efficacy. The findings of this study not only underscore the therapeutic acumen of Lupenone in addressing the challenges posed by glioblastoma and Alzheimer's but also lay a strong foundation for its consideration as a leading candidate in future neuro-oncological and neurodegenerative research endeavors. Given the compelling in-silico data, a clarion call is made for its empirical validation in holistic in-vivo settings, potentially pioneering a new therapeutic epoch in both glioblastoma and Alzheimer's interventions.


Assuntos
Doença de Alzheimer , Glioblastoma , Lupanos , Humanos , Peptídeos beta-Amiloides/metabolismo , Simulação de Dinâmica Molecular , Doença de Alzheimer/metabolismo , Glioblastoma/tratamento farmacológico , Simulação de Acoplamento Molecular
17.
Nanotechnology ; 35(11)2023 Dec 27.
Artigo em Inglês | MEDLINE | ID: mdl-38081079

RESUMO

In this comprehensive study, the dynamic behavior of a copper-water nanofluid infused with gyrotactic microorganisms, focusing on the effects of Hall current, nanoparticle radius, inter-particle spacing, and multiple slip mechanisms is investigated. Through advanced numerical simulations and rigorous analysis, intricate relationships between the parameters and the suspension's characteristics are uncovered. Comparison of the present results show a good agreement with the published results. The research findings unveil the potential for fine-tuning transport processes, manipulating thermal properties, and controlling dispersion and aggregation in nanofluids. These insights hold promise for a wide array of applications, from enhancing heat exchangers and cooling systems to pioneering biomedical devices utilizing gyrotactic microorganisms for targeted drug delivery and sensing. This study not only advances the fundamental understanding of nanofluid dynamics but also paves the way for innovative developments across various scientific and engineering domains.

18.
Int J Ment Health Syst ; 17(1): 42, 2023 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-38053169

RESUMO

OBJECTIVE: This study aimed to validate the Arabic Version of the Mental Health Literacy Scale (Arabic-MHLS) among the Saudi Arabian general population, assessing its internal consistency, test-retest reliability, and structural validity. METHODS: A total of 700 Arabic-speaking Saudi adults were randomly selected to complete the electronic questionnaire in May 2023, which generated 544 participants. Data were coded and stored in the ZdataCloud research data collection system database. Test-retest reliability was assessed using a subsample of 48 participants who completed the questionnaire twice, with a one-week interval. Structural validity was examined using confirmatory factor analysis (CFA) and Exploratory Factor Analysis (EFA). RESULTS: The Arabic-MHLS demonstrated good internal consistency (Cronbach's alpha = 0.87) and test-retest reliability (intraclass correlation coefficient = 0.89). EFA revealed a four-factor model closely resembling the model identified in the Slovenian validation of MHLS, with factor loadings ranging from 0.40 to 0.85. The four factors included knowledge of mental health disorders, knowledge of help-seeking, knowledge of self-help strategies, and knowledge of professional help also showed good internal consistency. CONCLUSION: The Arabic-MHLS is a valid and reliable tool for assessing mental health literacy in the Saudi Arabian general population. However, further research is needed to refine the measurement tool and understand the complex relationships between mental health literacy and other mental health-related concepts. This will contribute to the development of targeted interventions and policies aimed at improving mental health literacy and promoting mental well-being in the Saudi Arabian population and beyond.

19.
Microorganisms ; 11(12)2023 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-38138070

RESUMO

In this study, we investigated both meat-derived and methicillin-resistant Staphylococcus aureus (MRSA), exploring their genetic relatedness to patient-derived MRSA isolates in Saudi Arabia. We collected 250 meat samples and identified 53 S. aureus isolates, with 79% being methicillin-sensitive Staphylococcus aureus (MSSA) and 21% being MRSA. Moreover, we included 80 clinically confirmed patient-derived MRSA isolates. We identified the most common S. aureus clone in both patients and retail meat. In meat, ST6 and ST97 were the most common clones in 55% of the MRSA isolates, and ST1153 and ST672 were the most common in 21% and 17% of the MSSA isolates. In patients, ST5 and ST6 were the predominant clones in 46% of the S. aureus isolates. CC5/ST5-SCCmecVc-t311 and CC361/ST672-SCCmecV-t3841 were common MRSA clones in both meat and patients. CC97 and CC361 clones were the second most prevalent S. aureus clones in meat and were relatively common in patients. Furthermore, we sequenced and characterized novel S. aureus strains ST8109, ST8110, and ST8111. The genomic similarities between meat- and patient-derived S. aureus isolates suggest that retail meat might be a reservoir for S.aureus and MRSA transmission. Therefore, a structured One Health approach is recommended for S. aureus dissemination, genetic characterization, antibiotic resistance, and impact on human health.

20.
Artigo em Inglês | MEDLINE | ID: mdl-38135503

RESUMO

OBJECTIVE: Granulomatosis with polyangiitis (GPA) is an antineutrophil cytoplasmic antibody-associated vasculitis. The 2022 American College of Rheumatology/European Alliance of Associations for Rheumatology (ACR/EULAR)-endorsed classification criteria for GPA was derived using data only from adult patients. We aimed to assess the performance of the ACR/EULAR classification criteria for GPA in pediatric patients and compare it with the EULAR/Pediatric Rheumatology International Trials Organization (PRINTO)/Pediatric Rheumatology European Society (PReS)-endorsed Ankara 2008 criteria for GPA. METHODS: Retrospective data of pediatric patients with GPA in 20 centers from 9 countries were evaluated. The diagnosis of GPA was made according to the expert opinion. The sensitivity, specificity, positive predictive value, and negative predictive value of the criteria sets were evaluated. RESULTS: The study included 77 patients with GPA and 108 controls (immunoglobulin A vasculitis (n = 44), Takayasu's arteritis (n = 20), microscopic polyangiitis (n = 16), polyarteritis nodosa (n = 14), Behçet's disease (n = 12), eosinophilic granulomatosis with polyangiitis (n = 1), and Cogan's syndrome (n = 1)) with a median age of 17.8 and 15.2 years, respectively. Of patients with GPA, constitutional symptoms (85.7%) and ear-nose-throat involvement (79.2%) were the most common presentations. In the GPA group, 73 patients fulfilled the Ankara 2008 criteria and 69 the ACR/EULAR classification criteria. Sensitivities of the Ankara 2008 criteria and the ACR/EULAR classification criteria were 94.8% and 89.6%, while specificities were 95.3% and 96.3%, respectively. No significant difference was found between sensitivities and specificities of both classification criteria (p= 0.229 and p= 0.733, respectively). CONCLUSION: In children, both the ACR/EULAR and EULAR/PRINTO/PReS Ankara 2008 classification criteria for GPA perform well and similarly.

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