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1.
Med Sci Monit Basic Res ; 30: e942676, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38425038

RESUMO

BACKGROUND Healthcare providers, particularly in dentistry and medicine, experience high stress levels, exacerbated by factors like patient anxiety, clinical work, and continuous training. The COVID-19 pandemic has further increased these risks. This study aimed to assess depression, anxiety, and stress (DAS) among dental and medical practitioners in Saudi Arabia, investigating influential factors on their psychological behavior. MATERIAL AND METHODS In this cross-sectional study conducted in July and August 2021, the depression, anxiety, and stress scale (DASS-21) was administered through a Google questionnaire. Data analysis involved stepwise mode modeling and bivariate analysis, with a significant P value <0.05, using the Statistical Package for the Social Sciences. RESULTS The study included 376 dentists and 201 medical practitioners. Most worked more than four days a week, slept under six hours nightly, and were non-smokers. DAS scores indicated depression (51.7-57.4%), anxiety (50.7-58.2%), and stress (54.2-60.1%). Significant differences (P<0.05) were observed among younger, single, female, and lower-income participants. Higher DAS scores correlated with less sleep, extensive social media use, and smoking history. Socio-demographic factors were mostly non-significant for medical practitioners, except social media use. Sleep duration significantly impacted stress levels, while specialty, income, and marital status influenced depression CONCLUSIONS DAS levels were notably higher in dentists compared to medical practitioners, particularly regarding anxiety. The impact of socioeconomic factors varied, being more statistically significant for dentists.


Assuntos
COVID-19 , Humanos , Feminino , COVID-19/epidemiologia , Estudos Transversais , Odontólogos , Depressão/epidemiologia , Pandemias , Papel Profissional , Arábia Saudita/epidemiologia , Ansiedade/epidemiologia , Estresse Psicológico/epidemiologia
2.
Mol Genet Genomic Med ; 12(1): e2282, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37800653

RESUMO

BACKGROUND: Transcobalamin II (TCN2) defect is a rare metabolic disorder associated with a range of neurological manifestations, including mild developmental delay, severe intellectual disability, ataxia, and, in some cases, seizures. Cobalamin, an essential nutrient, plays a crucial role in central nervous system myelination. CLINICAL PRESENTATION: We present a family with an index patient who exhibited progressive neurodevelopmental regression starting at 9 months of age, accompanied by myoclonic seizures, ataxia, and tremor. No significant hematological abnormalities were observed. Exome sequencing analysis identified a novel homozygous mutation, c.3G>A - P(Met1I), affecting the acceptor site of intron 4 of the TCN2 gene (chromosome 22: 31003321, NM_000355.4), leading to likely pathogenic variant potentially affecting translation. Following treatment with hydroxocobalamin, the patient demonstrated partial clinical improvement. He has a sibling with overt hematological abnormalities and subtle neurological abnormalities who is homozygous to the same mutation. Both parents are heterozygous for the same mutation. CONCLUSIONS: In infants presenting with unexplained non-specific neurological symptoms, irrespective of classical signs of vitamin B12 deficiency, evaluation for TCN2 defect should be considered. Early diagnosis and appropriate management can lead to favorable outcomes.


Assuntos
Ataxia Cerebelar , Epilepsia Generalizada , Epilepsia , Humanos , Lactente , Masculino , Ataxia/tratamento farmacológico , Ataxia/genética , Mutação , Convulsões/tratamento farmacológico , Convulsões/genética , Transcobalaminas/genética , Transcobalaminas/metabolismo , Vitamina B 12/uso terapêutico
3.
Medicine (Baltimore) ; 102(47): e35906, 2023 Nov 24.
Artigo em Inglês | MEDLINE | ID: mdl-38013323

RESUMO

Vertebral artery aneurysm is a rare condition with diverse clinical manifestations in pediatric patients. We present the case of a 12-year-old male who presented with diplopia, vomiting, ataxia, and severe headache. Diagnostic evaluation revealed an extracranial vertebral artery dissection with an associated aneurysm at the C3-C4 level. Despite the absence of recurrent ischemic strokes, the aneurysm posed challenges in differentiating the symptoms from other inflammatory demyelinating disorders, particularly internuclear ophthalmoplegia. Diagnosis relied on a thorough history, physical examination, and imaging studies. Magnetic resonance imaging with magnetic resonance angiography confirmed the diagnosis and played a crucial role in assessing the size, location, and extent of the aneurysm. Additionally, the imaging findings helped guide treatment decisions and determine the need for anticoagulation therapy. Regular follow-up imaging was initiated to monitor for late complications and evaluate the effectiveness of the management approach. This case highlights the atypical presentation of vertebral artery aneurysm in a pediatric patient, underscoring the importance of clinical suspicion and the role of advanced imaging techniques in facilitating accurate diagnosis and guiding appropriate management. Prompt diagnosis and optimal utilization of imaging modalities are essential in preventing severe morbidity and mortality. Further research is warranted to enhance our understanding of this condition and refine imaging and management protocols in pediatric population.


Assuntos
Dissecação da Artéria Vertebral , Masculino , Humanos , Criança , Dissecação da Artéria Vertebral/diagnóstico , Dissecação da Artéria Vertebral/diagnóstico por imagem , Artéria Vertebral/diagnóstico por imagem , Artéria Vertebral/patologia , Imageamento por Ressonância Magnética , Angiografia por Ressonância Magnética
4.
Seizure ; 107: 146-154, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37062196

RESUMO

OBJECTIVES: To investigate the clinical features of developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep (D/EE-SWAS), its electrographic characteristics, and etiology and to compare the effects of different treatment strategies on the outcomes using a Saudi Arabian database. METHODS: This multicenter study included children with D/EE-SWAS who were evaluated between 2010 and 2020 at 11 tertiary centers. Data were collected on their baseline clinical features, etiologies, and treatment modalities. Seizure reduction, spike-wave index, and cognitive state were examined as potential therapeutic outcomes. RESULTS: Ninety-one children were diagnosed with D/EE-SWAS, with a median age of 7 years (IQR: 3-5) and an almost equal sex distribution. The average age at which epilepsy was diagnosed was 3 years (IQR: 5-2). A genetic/metabolic etiology was found in 35.1% of the patients, and a structural etiology was found in 27.4%. Children with underlying genetic/metabolic diseases exhibited an earlier seizure onset (P = 0.001) than children with other etiologies. Benzodiazepines (76.6%) were the most common treatment, followed by steroids (51.9%). Sodium valproate (75%) was the most frequently used antiseizure medication, followed by levetiracetam (64.9%). Children with a later seizure onset were more likely to have better clinical responses (P = 0.046), EEG responses (P = 0.012), and cognitive outcomes (P = 0.006) than children with an earlier onset. Moreover, better seizure response and electrographic response were seen in patients with bilateral interictal discharges on the EEG than otherwise. Children had a higher likelihood of both clinical and electrographic improvement with combination therapy of benzodiazepines (P = 0.001) and steroids (P = 0.001) than with other therapies. SIGNIFICANCE: This study shows a higher prevalence of genetic/metabolic causes and suggests the superior efficacy of combination therapy with steroids and benzodiazepines in D/EE-SWAS. Prospective studies that strictly assess the treatment protocols and outcomes are needed.


Assuntos
Epilepsia Generalizada , Epilepsia , Criança , Humanos , Pré-Escolar , Arábia Saudita/epidemiologia , Estudos Prospectivos , Eletroencefalografia/métodos , Sono/fisiologia , Epilepsia/tratamento farmacológico , Epilepsia/epidemiologia , Epilepsia/etiologia , Convulsões , Benzodiazepinas , Esteroides , Estudos Retrospectivos
5.
Clin Med Insights Case Rep ; 16: 11795476231158509, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36874375

RESUMO

Introduction: In children, idiopathic intracranial hypertension (IIH) is relatively uncommon. It is characterized by an increase in intracranial pressure, in the absence of evidence of underlying brain disease, structural abnormalities, hydrocephalus, or abnormal meningeal improvement. However, very rarely it can occur without papilledema, even though it is the most recognizable clinical sign. Due to this, a delay in diagnosis can lead to severe visual impairments. Case presentation: We describe a patient with a chronic headache but no papilledema. His neurological and systemic examinations were otherwise unremarkable. A lumbar puncture revealed a high opening pressure of 450 mmH2O and normal cerebrospinal fluid (CSF) parameters. Magnetic resonance imaging of the brain revealed only tortuous optic nerves, no parenchymal lesions, and no evidence of venous sinus thrombosis. He required acetazolamide treatment. Our patient's symptoms improved significantly in 2 months with medical treatment, weight loss, and exercise, with no development of papilledema. Conclusion: There is a wide range of clinical manifestations of IIH, making it difficult to decide when to begin treatment.

6.
Medicine (Baltimore) ; 102(8): e32986, 2023 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-36827019

RESUMO

BACKGROUND: Myelin oligodendrocyte glycoprotein antibody (MOGA) associated diseases are inflammatory immune-mediated demyelinating disorders with relapse potential involving the central nervous system. Multiple unusual clinical manifestations of those disorders were reported, making treatment decisions difficult. CASE PRESENTATION: A healthy 12-year-old obese boy presented with headache and bilateral asymmetric papilledema. The patient had a negative medical history. His neurological and general examinations were unremarkable, his initial magnetic resonance imaging showed elevated intracranial pressure (ICP) only. A lumbar puncture revealed increased opening pressure and pleocytosis. The MOGA titer was 1:320. He needed acetazolamide and steroid therapy. After 2 months of medication, weight loss, exercise, the patient symptoms significantly improved, papilledema resolved, and visual function improved. CONCLUSION: MOGA-associated disorders have a variety of clinical features, so a high index of suspicion is required for their diagnosis. Papilledema and an elevated ICP are 2 of the chameleons of MOGA-associated disorders. MOGA test may be useful in patients with elevated ICP and inflammatory cerebrospinal fluid profiles. An investigation of the possible association between those disorders and high ICP is warranted.


Assuntos
Hipertensão Intracraniana , Papiledema , Masculino , Humanos , Papiledema/etiologia , Glicoproteína Mielina-Oligodendrócito , Hipertensão Intracraniana/tratamento farmacológico , Acetazolamida/uso terapêutico , Cefaleia/etiologia
7.
Med Sci Monit ; 28: e938084, 2022 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-36193012

RESUMO

BACKGROUND In this questionnaire-based study, we evaluated the prevalence and awareness level of occupational hazards among dental professionals (students, interns, dentists, and specialists) at different dentistry colleges. MATERIAL AND METHODS A self-administered questionnaire was designed from previously conducted studies and distributed to 310 participants from different dental colleges of dentistry in Sana'a City, Yemen. The questionnaire was divided into 4 parts. The first part comprised questions involving sex, age, and clinical professions; the second part, questions on awareness about different occupational hazards; the third part, questions about prevalence of occupational hazards; and the fourth part, questions related to bringing down the prevalence of occupational hazards associated with a dental practice. Data were analyzed using one­way analysis of variance and chi-square tests. RESULTS Significant differences were detected between sex, age groups, and clinical professions. Musculoskeletal disorders were the most common physical hazard, whereas infections were the greatest biological hazard, accounting for 68% and 74%, respectively. Of the participants, 63.5% answered that "patient, practice, and finance'' together were the most common causes of stress among practicing dentists and dental students. The use of gloves and/or masks was the most efficient preventive measure among participants. A significant difference was found among most of the parameters, with P≤0.001. Almost 50% of respondents answered "yes'' in relation to vaccination for hepatitis-B, with P=0.062. CONCLUSIONS The prevalence of occupational hazards was low among dentists and dental students among the tested participants, with significant differences for most of the parameters.


Assuntos
Doenças Profissionais , Odontólogos , Humanos , Doenças Profissionais/epidemiologia , Doenças Profissionais/prevenção & controle , Prevalência , Inquéritos e Questionários , Vacinação
8.
Pediatr Neurol ; 134: 78-82, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35841715

RESUMO

BACKGROUND: Hyperekplexia is a rare disorder characterized by exaggerated startle responses to unexpected sensory stimuli, recurrent apneas, and stiffness. Only few studies have been published on this disorder in populations with high rates of consanguinity. METHODS: We retrospectively reviewed Saudi patients with genetically confirmed hereditary hyperekplexia using a standard questionnaire that was sent to nine major referral hospitals in Saudi Arabia. RESULTS: A total of 22 Saudi patients (11 males, 11 females) from 20 unrelated families who had hereditary hyperekplexia were included. Based on molecular studies, they were classified into different subtypes: SLC6A5 variant (12 patients, 54.5%), GLRB variant (seven patients, 31.8%), and GLRA1 variant (three patients, 13.7%). All patients were homozygous for the respective causal variant. The combined carrier frequency of hereditary hyperekplexia for the encountered founder mutations in the Saudi population is 10.9 per 10,000, which translates to a minimum disease burden of 13 patients per 1,000,000. CONCLUSION: Our study provides comprehensive epidemiologic information, prevalence figures, and clinical characteristics of a large cohort of patients with hereditary hyperekplexia.


Assuntos
Rigidez Muscular Espasmódica , Feminino , Proteínas da Membrana Plasmática de Transporte de Glicina/genética , Humanos , Masculino , Mutação , Receptores de Glicina/genética , Reflexo de Sobressalto/genética , Estudos Retrospectivos , Arábia Saudita/epidemiologia , Rigidez Muscular Espasmódica/epidemiologia , Rigidez Muscular Espasmódica/genética
9.
Med Sci Monit ; 28: e937470, 2022 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-35908171

RESUMO

BACKGROUND Dental anxiety can impact oral health and dental treatment in patients of all age groups, which seems to be an obstacle to quality dental care. This systematic review of the literature aimed to evaluate the findings from cross-sectional studies conducted in the Kingdom of Saudi Arabia (KSA) on levels of dental anxiety (DA) between genders and among various demographic groups. MATERIAL AND METHODS An electronic search of PubMed, Embase, and Web of Science databases was carried out in January 2022. Studies that measured dental anxiety in Saudis in all regions of the KSA by direct evaluation and interviews were included. Studies that were not in the English language or used proxy measures were excluded. Quality assessment was carried out using Joanna Briggs Institute's critical appraisal tool for cross-sectional studies. RESULTS A total of 19 cross-sectional studies from the KSA were identified that used validated anxiety scales, including the Corah Dental Anxiety Scale (DAS), the Corah Dental Anxiety Scale, Revised (DAS-R), and the Modified Dental Anxiety Scale (MDAS). All studies were rated as having a high risk of bias. A mild level of DA was the most common among participants in the KSA. CONCLUSIONS The findings from this systematic review showed that in the KSA, although a mild level of dental anxiety was most common in the study participants, women, young adults, and university students showed a higher prevalence of dental anxiety. However, the lack of sufficient literature to support the current findings make an overall conclusion about DA extremely difficult.


Assuntos
Ansiedade ao Tratamento Odontológico , Saúde Bucal , Estudos Transversais , Ansiedade ao Tratamento Odontológico/epidemiologia , Feminino , Humanos , Masculino , Prevalência , Arábia Saudita/epidemiologia , Adulto Jovem
10.
Ital J Pediatr ; 47(1): 33, 2021 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-33588860

RESUMO

BACKGROUND: Myoclonus dystonia (MDS) is a dominantly inherited genetic disorder caused by loss-of-function mutations in the epsilon sarcoglycan gene (SGCE). CASE PRESENTATION: We here in report a twenty months old Saudi boy who presented to us with a concern that the child is unable to walk properly. On assessment, he was flexing his left arm and left leg that usually followed by a back-ward fall. Diagnosis of dystonia induced with initiation of movement was suggested that later on proven genetically to be pathogenic mutation of sarcoglycan gene. Carbamazepine therapy was initiated with dramatic response. Response was maintained at 4 years follow up. CONCLUSIONS: Our patient and the other previously reported cases might highlight the response of SGCE mutations to carbamazepine therapy.


Assuntos
Carbamazepina/uso terapêutico , DNA/genética , Distúrbios Distônicos/tratamento farmacológico , Testes Genéticos/métodos , Mutação , Sarcoglicanas/genética , Anticonvulsivantes/uso terapêutico , Análise Mutacional de DNA , Distúrbios Distônicos/genética , Distúrbios Distônicos/metabolismo , Humanos , Lactente , Masculino , Sarcoglicanas/metabolismo , Resultado do Tratamento
11.
J Oral Pathol Med ; 48(9): 846-854, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31228223

RESUMO

OBJECTIVES: Lichenoid granulomatous reaction can be subcategorized into lichenoid granulomatous dermatitis or lichenoid granulomatous stomatitis. It is described in the literature as demonstrating a band-like lichenoid infiltration with clusters of histiocytic or granuloma formation. In this study, we presented a large case series of lichenoid granulomatous stomatitis including demographics, histological features, and subcategories and compared findings with current literature. METHODS AND MATERIALS: We retrieved all cases diagnosed with lichenoid reaction with granulomatous inflammation between January 1, 2000, and August 1, 2016, from the University of Florida Oral Pathology Biopsy Service Archives. RESULTS: A total of 47 patients with tissue from 50 biopsy sites were included. The majority of the cases were noted in females (64%) with a mean age of 59 years (range 30-88). Most patients were Caucasian, and the most common sites in descending order were: gingiva, buccal mucosa, vestibule, tongue, lip, palate, and occasional multifocal involvement. Clinical impressions by the treating clinicians included leukoplakia, dysplasia, carcinoma in situ, squamous cell carcinoma, lichen planus, vesiculobullous disease, trauma, and allergy. The histologic features of these cases ranged from lichenoid mucositis with numerous aggregates of histiocytes to well-formed granulomas, in accordance with previous classifications of similar dermatologic lesions. All cases revealed positive CD 68 in the histiocytic infiltrates and were negative for microorganisms utilizing acid-fast bacilli, Grocott methenamine-silver, and periodic acid-Schiff stains. CONCLUSION: Lichenoid granulomatous disease may be more common than previously reported; however, its etiology remains unknown and patients should be kept under long-term clinical follow-up.


Assuntos
Líquen Plano Bucal , Erupções Liquenoides , Estomatite , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mucosa Bucal , Estudos Retrospectivos
12.
Ann Med Surg (Lond) ; 5: 11-3, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26740874

RESUMO

BACKGROUND: Pantothenate kinase-associated neurodegeneration (PKAN), sickle cell anemia, and thalassemia are autosomal recessive disorders that can cause iron deposition in tissues during childhood. PKAN is characterized by accumulation of iron in the basal ganglia causing progressive extrapyramidal manifestations. Thalassemia and sickle cell disease can cause iron overload and deposition in tissues, including central nervous system. PRESENTATION OF CASE: we herein report the first report of comorbidity of PKAN, ß-thalassemia-major, sickle cell and glucose-6-phosphate dehydrogenase deficiency (G6PD) anemias in a 9 years old Saudi female patient who presented with gait disturbance, speech difficulty, and progressive movement disorders of the neck, upper and lower limbs. CONCLUSION: Although extremely rare, ß-thalassemia-major, sickle cell and G6PD anemias can be associated with PKAN. It is unknown whether this association is random or due to an unknown factor that may have caused several mutations.

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