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1.
Neurologist ; 29(3): 173-178, 2024 May 01.
Article in English | MEDLINE | ID: mdl-38250816

ABSTRACT

INTRODUCTION: Restless Legs Syndrome (RLS) is a neurological disorder primarily treated with pregabalin and gabapentin, followed by dopamine agonists later in the process due to the risk of augmenting RLS symptoms. In addition, clinical reports have disclosed varying degrees of success employing other agents in patients unresponsive to traditional agents. Here, we present a patient who had success in the reduction of RLS symptoms with lamotrigine, a broad-spectrum anticonvulsant. Previously, lamotrigine had been used in 2 trials with successful treatment of RLS. CASE REPORT: We present a 58-year-old right-handed lady with long-standing history of smoking, hypertension, dyslipidaemia, prediabetes, gastro-esophageal reflux disease, asthma, strabismus, uterine cancer, severe and debilitating course of RLS accompanied by unexplained deterioration. The patient initially demonstrated abnormal sensation in all her limbs, which worsened with radiotherapy treatment, and was eventually diagnosed with RLS based on the diagnostic criteria. Subsequent examinations were unremarkable and revealed no further explanation for the deterioration of the RLS symptoms. While the complexity of the patient's medical history had exposed her to a variety of medications, she reported that only lamotrigine, in addition to her original regimen of methadone and pramipexole, offered significant symptomatic relief. It must be noted that no adverse side effects, including impulse-control disorder, were reported by the patient. CONCLUSIONS: We present a case of a woman whose deteriorating symptoms of RLS were successfully alleviated by the administration of lamotrigine. This is only the third case in the literature to have successfully utilized lamotrigine as a treatment option for RLS.


Subject(s)
Anticonvulsants , Lamotrigine , Restless Legs Syndrome , Triazines , Humans , Restless Legs Syndrome/drug therapy , Female , Lamotrigine/therapeutic use , Lamotrigine/adverse effects , Middle Aged , Anticonvulsants/therapeutic use , Anticonvulsants/adverse effects , Triazines/therapeutic use , Triazines/adverse effects
2.
Am J Med Genet A ; 194(4): e63484, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38041495

ABSTRACT

Tatton-Brown-Rahman syndrome (TBRS) is a rare autosomal dominant overgrowth syndrome first reported in 2014 and caused by pathogenic variants in the DNA methyltransferase 3A (DNMT3A) gene. All individuals reported to date share a phenotype of somatic overgrowth, dysmorphic features, and intellectual disability. Peripheral neuropathy was not described in these cases. We report an adult patient with TBRS caused by a novel pathogenic DNMT3A variant (NM_175629.2: c.2036G>A, p.(Arg688His)) harboring an axonal length-dependent sensory-motor polyneuropathy. Extensive laboratory and molecular genetic work-up failed to identify alternative causes for this patient's neuropathy. We propose that axonal neuropathy may be a novel, age-dependent phenotypic feature in adults with TBRS and suggest that this syndrome should be considered in the differential diagnosis of patients with overgrowth, cognitive and psychiatric difficulties, and peripheral neuropathy.


Subject(s)
Abnormalities, Multiple , Intellectual Disability , Musculoskeletal Abnormalities , Polyneuropathies , Adult , Humans , DNA Methyltransferase 3A , Intellectual Disability/diagnosis , Intellectual Disability/genetics , DNA (Cytosine-5-)-Methyltransferases/genetics , Mutation , Abnormalities, Multiple/genetics , Syndrome , Polyneuropathies/diagnosis , Polyneuropathies/genetics
4.
Front Neurosci ; 16: 951283, 2022.
Article in English | MEDLINE | ID: mdl-35968390

ABSTRACT

Background: Stroke is a leading cause of mortality and disability and one of the most common neurological conditions globally. Many studies focused on vitamin D as a stroke risk factor, but only a few focused on its serum level as a predictor of stroke initial clinical severity and recovery with inconsistent results. The purpose of this study was to assess the relationship between serum vitamin D levels and stroke clinical severity at admission and functional independence and disability at discharge in Saudi Arabia. Methodology: A retrospective cohort study of adult ischemic stroke patients who had their vitamin D tested and admitted within 7 days of exhibiting stroke symptoms at King Abdulaziz Medical City (KAMC) Jeddah, Saudi Arabia. Based on vitamin D level, the patients were categorized into normal [25(OH)D serum level ≥ 75 nmol/L], insufficient [25(OH)D serum level is 50-75 nmol/L], and deficient [25(OH)D serum level ≤ 50 nmol/L]. The primary outcome was to assess the vitamin D serum level of ischemic stroke patients' clinical severity at admission and functional independence at discharge. The National Institute of Health Stroke Scale (NIHSS) was used to assess the clinical severity, whereas the modified Rankin scale (mRS) was used to assess functional independence and disability. Results: The study included 294 stroke patients, out of 774, who were selected based on the inclusion and exclusion criteria. The mean age of the participants was 68.2 ± 13.4 years, and 49.3% were male. The patients' distribution among the three groups based on their vitamin D levels is: normal (n = 35, 11.9%), insufficient (n = 66, 22.5%), and deficient (n = 196, 65.6%). After adjusting for potential covariates, regression analysis found a significant inverse relationship of NIHSS based on 25(OH)D serum level (beta coefficient: -0.04, SE: 0.01, p = 0.003). Patients with deficient serum vitamin D level also had significantly higher odds of worse functional independence in mRS score [OR: 2.41, 95%CI: (1.13-5.16), p = 0.023] when compared to participants with normal vitamin D level. Conclusion: Low vitamin D levels were associated with higher severity of stroke at admission and poor functional independence and disability at discharge in patients with acute ischemic stroke. Further randomized clinical and interventional studies are required to confirm our findings.

5.
Saudi J Med Med Sci ; 10(2): 105-110, 2022.
Article in English | MEDLINE | ID: mdl-35602399

ABSTRACT

Background: The introduction of non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) has been shown to decrease the risk of malignancy (ROM) in The Bethesda System for Reporting Thyroid Cytopathology. This knowledge may alter the management of patients with thyroid nodules. Objectives: To correlate cytological diagnosis with histological diagnosis for establishing the ROM of all Bethesda system categories after the introduction of NIFTP. Methods: This was a retrospective cohort study. All consecutive fine-needle aspiration cytology (FNAC) specimens collected from January 1, 2013, to December 31, 2017, at King Abdullah Medical City, Jeddah, Saudi Arabia, were assessed, and patients who underwent surgical excision of thyroid nodules were further analyzed. The ROM and overall ROM for each Bethesda category were calculated with and without considering NIFTP as a malignant tumor. Results: Overall, 1066 FNAC specimens were collected, of which 281 had a surgical correlation. Our cases included 18 (6.4%) non-diagnostic (ND), 109 (38.8%) benign, 28 (9.9%) atypia/follicular lesion of undetermined significance (AUS/FLUS), 39 (13.8%) follicular neoplasm or suspicion for follicular neoplasm (FN/SFN), 20 (7.1%) suspicion for malignancy (SM), and 67 (23.8%) malignant (POM) cases. After considering NIFTP diagnosis on resection specimens, the ROM decreased as follows: ND, 38.8% to 27.7% (P = 0.2388); benign, 21.1% to 11.9% (P = 0.0343); AUS/FLUS, 50% to 39.2% (P = 0.2089); FN/SFN, 53.8% to 33.3% (P = 0.0336); SM, 85% to 75% (P = 0.2147); POM, 95.5% to 88% (P = 0.0582). Conclusion: The introduction of NIFTP would significantly decrease the ROM of thyroid FNAC in both benign and FN/SFN categories of the Bethesda system.

6.
Cureus ; 12(2): e7060, 2020 Feb 20.
Article in English | MEDLINE | ID: mdl-32226662

ABSTRACT

Introduction Computer vision syndrome (CVS) is defined as a group of vision-related symptoms that result from the continuous use of devices with digital displays, such as computers, tablets, and smartphones. Students nowadays can find resources and books online on their smartphones easily, hence, reducing the use of paper-based reading materials. This might lead to a number of ocular symptoms. In this study, we aim to assess the prevalence and determine the risk factors of CVS among students at King Saud Bin Abdulaziz University for Health Sciences (KSAUHS) in Jeddah. Materials and methods This is an observational descriptive cross-sectional study design. Students of Colleges of Medicine, Applied Medical Sciences, and Science and Health Professions at KSAUHS were asked to fill an electronic self-administered survey. The survey instrument included questions on demographic information, digital devices using habits, frequency of eye symptoms, and ergonomic practices.  Results The sample size was 334 students, 55% of whom were males. The most used device was the mobile phone (78%), and the most common reason for using an electronic device was for entertainment (80%). The frequency of reported eye symptoms was as follows: headache (68%), feeling of an affected eyesight (short- or long-sightedness (65%)), eye itchiness (63%), burning sensation (62%), excessive tearing (58%), unclear vision (52%), redness (51%), dryness (48.3%), photophobia (47%), painful eye (44%), foreign body sensation (40%), excessive blinking (40%), difficulty in focusing on near objects (31%), halos around objects (28%), double vision (21%), and difficulty moving eyelids (9%). The most commonly applied ergonomic practice was adjusting display brightness based on the surrounding light brightness (82%). The rest of the ergonomic practices were less applied as follows: taking breaks while using the device (66%), sitting with the screen on face level (59%), sitting while the top of the screen on eye level (43%), sitting with the screen more than 50 cm away (32%), using antiglare filter (16%). The number of eye symptoms reported was significantly greater in female students (using Mann-Whitney U test) (U= 11056.500, p= 0.002), students who wear glasses (U= 11026, 0.002), and students who observe glare on their screens (U= 8363, p= 0.043). Conclusion CVS symptoms are commonly reported among health sciences students who use different electronic devices. The occurrence of CVS symptoms was significantly higher among female students, those who observe glare on screens, and those who wear eyeglasses. However, long duration of device use was not significantly associated with increased CVS symptoms. Ergonomic practices are not usually applied by most of the students, which necessitates more efforts to increase their awareness of the correct way of using devices.

7.
JAMA Netw Open ; 3(3): e200341, 2020 03 02.
Article in English | MEDLINE | ID: mdl-32125427

ABSTRACT

Importance: The treatment plans of patients with cancer involve multiple modalities that oncologists need to explain to patients. One such modality is chemotherapy, in which information about the goals, duration, and expected complications of therapy are considered fundamental to achieving optimal patient understanding. Therefore, effective communication between patients and their treating physicians is important to ensure patient adherence to treatment and achieve better outcomes. Objective: To investigate the concordance in the understanding of chemotherapy treatment plans between patients and their treating oncologists and to identify the potential factors associated with concordance. Design, Setting, and Participants: A cross-sectional study was conducted among adult patients (aged >18 years) with cancer who consented to receive chemotherapy between October 4, 2017, and November 8, 2018. The study also included the treating oncologists of patients receiving chemotherapy. An interview-based structured questionnaire was administered in both inpatient and outpatient settings at the Princess Noorah Oncology Center in Jeddah, Saudi Arabia. The demographic data of patients and physicians were obtained from the ARIA Oncology Information System, a chemotherapy-prescribing software database used at the center. Patients who had a personal history of cancer or were unwilling to be involved in the decision-making process were excluded. Data were analyzed from November 15 to December 20, 2018. Exposures: Patients' comprehension and concordance with their treating physicians regarding the aspects of the intended treatment plan. Main Outcomes and Measures: The main outcomes measured were the patient-physician concordance level in the understanding of treatment plans and the identification of patient-related and physician-related factors associated with the level of concordance. Results: A total of 151 adult patients (77 men [51.0%] and 74 women [49.0%]) were interviewed. Of those, 144 patients (75.5%) were younger than 60 years, and 52 patients (34.4%) had a college or advanced degree. A total of 20 treating oncologists were interviewed, of whom 14 (70.0%) were men and 6 (30.0%) were women. Arabic was the primary language of 19 oncologists (95.0%), and 19 oncologists (95.0%) had medical practice experience outside of Saudi Arabia. Only 20 patients (13.7%) had full concordance with their physicians regarding the aspects of their treatment plans. The remaining 131 patients (86.2%) had discordance with 1 or more aspect of their treatment plans. The most common aspect of discordance was the planned duration of the chemotherapy regimen, with 104 patients (68.4%) having full discordance. Full patient-physician concordance was more likely among patients with college or advanced degrees (χ21 = 17.73; P < .001) and patients with a family history of cancer (χ21 = 15.88; P < .001). In addition, older physicians (>40 years) compared with younger physicians (aged 30-40 years) were more likely to achieve higher rates of full patient-physician concordance, whereas older patients (>60 years) were associated with only partial concordance compared with patients younger than 60 years (χ21 = 5.84; P = .008), with an AR of 2.7. Conclusions and Relevance: Most patients showed suboptimal understanding of aspects of their chemotherapy treatment plans. More effort and time should be dedicated to enhancing the understanding of chemotherapy plans among patients with lower educational levels. In addition, self-report surveys that evaluate patients' understanding of their chemotherapy treatment plans should be developed and added to the informed consent process to objectively assess how much a patient understands and to develop a stepwise patient education program that targets patients with the lowest levels of understanding.


Subject(s)
Antineoplastic Agents/therapeutic use , Neoplasms/drug therapy , Oncologists , Patient Education as Topic , Patient Medication Knowledge , Adolescent , Adult , Cross-Sectional Studies , Duration of Therapy , Educational Status , Female , Health Knowledge, Attitudes, Practice , Humans , Male , Middle Aged , Saudi Arabia , Young Adult
8.
J Family Med Prim Care ; 8(7): 2322-2327, 2019 Jul.
Article in English | MEDLINE | ID: mdl-31463250

ABSTRACT

INTRODUCTION: World Health Organization advocates that 3-5% of the population should donate blood yearly. However, the donors in Saudi Arabia (SA) in 2011 represented 1.46% of the population. This study aimed to assess knowledge, attitude and practice concerning voluntary blood donation among health professions students in Saudi Arabia and to determine the associated factors. METHODS: This is a cross sectional study on 598 students. Chi-square and Fisher tests were used to analyze the significant association of blood donation and influencing factors. RESULTS: Majority of respondents (360; 60.2%) showed sufficient knowledge regrading blood donation. A total of 593 participants (99.2%) believed that blood donation is important for the community. Around 180 (30.1%) of the respondents have donated blood before. Out of the participants, 422 students (70.6%) reported that they did not take any courses concerning blood donation in their colleges. However, 502 (83.9%) showed a high willingness to donate blood if their colleges organize a blood donation camp within campus. There was a significant association between knowledge level, current academic level and gender with practice of blood donation. CONCLUSION: Saudi health professions colleges' role in promoting blood donation was notably missed. Students showed high willingness to donate blood if a blood camp was organized within the campus. The implementation of encouragement campaigns and educational sessions within the campus will have a great effect on blood donation.

9.
Cureus ; 11(12): e6322, 2019 Dec 08.
Article in English | MEDLINE | ID: mdl-31938613

ABSTRACT

Q fever is a zoonotic disease that is caused by Coxiella burnetii, a gram-negative coccobacillary bacterium. Human infection primarily occurs following the inhalation of aerosols containing C. burnetii. The infection can either present in an acute or chronic form. The three main presentations are flu-like syndrome, atypical pneumonia, and hepatitis. Chronic Q fever mainly affects the heart where the disease manifests as endocarditis. In this case report, the patient was born at term with congenital heart defects, namely double outlet right ventricle (DORV), ventricular septal defects (VSD), and coarctation of the aorta. He underwent coarctation repair and pulmonary artery binding. At the age of three years, he presented with palpitation, sudden high-grade fever, myalgia, and dyspnea. Endocarditis was suspected due to a history of a surgical repair of congenital heart defects. Blood cultures were negative, however, a diagnosis of Q fever endocarditis was confirmed based on serologic titers. Q fever endocarditis is a challenging diagnosis since the echocardiography findings are often nonspecific. Moreover, Q fever can present as negative-culture endocarditis with low sensitivity of blood and tissue polymerase chain reaction (PCR) for C. burnetii. Hence, the modified Duke criteria has considered phase 1 immunoglobulin G (IgG) titers of 1:800 or more as diagnostic for infective endocarditis. Although uncommon, physicians should maintain a high index of suspicion for Q fever endocarditis, especially among patients with pre-existing structural heart disease and associated symptoms and risk factors such as animal exposure.

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