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1.
Pediatr Blood Cancer ; : e31032, 2024 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-38711167

RESUMO

BACKGROUND: Angiopoietin-2 (Ang-2) is increased in the blood of patients with kaposiform lymphangiomatosis (KLA) and kaposiform hemangioendothelioma (KHE). While the genetic causes of KHE are not clear, a somatic activating NRASQ61R mutation has been found in the lesions of KLA patients. PROCEDURE: Our study tested the hypothesis that the NRASQ61R mutation drives elevated Ang-2 expression in endothelial cells. Ang-2 was measured in human endothelial progenitor cells (EPC) expressing NRASQ61R and a genetic mouse model with endothelial targeted NRASQ61R. To determine the signaling pathways driving Ang-2, NRASQ61R EPC were treated with signaling pathway inhibitors. RESULTS: Ang-2 levels were increased in EPC expressing NRASQ61R compared to NRASWT by Western blot analysis of cell lysates and ELISA of the cell culture media. Ang-2 levels were elevated in the blood of NRASQ61R mutant mice. NRASQ61R mutant mice also had reduced platelet counts and splenomegaly with hypervascular lesions, like some KLA patients. mTOR inhibitor rapamycin attenuated Ang-2 expression by NRASQ61R EPC. However, MEK1/2 inhibitor trametinib was more effective blocking increases in Ang-2. CONCLUSIONS: Our studies show that the NRASQ61R mutation in endothelial cells induces Ang-2 expression in vitro and in vivo. In cultured human endothelial cells, NRASQ61R drives elevated Ang-2 through MAP kinase and mTOR-dependent signaling pathways.

2.
JVS Vasc Sci ; 5: 100202, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38694477

RESUMO

Objective: Sympathetic innervation plays a pivotal role in regulating cardiovascular health, and its dysregulation is implicated in a wide spectrum of cardiovascular diseases. This study seeks to evaluate the impact of denervation of the abdominal aorta on its morphology and wall homeostasis. Methods: Male and female Sprague-Dawley rats (N = 12), aged 3 months, underwent midline laparotomy for infrarenal aorta exposure. Chemical denervation was induced via a one-time topical application of 10% phenol (n = 6), whereas sham controls received phosphate-buffered saline (n = 6). Animals were allowed to recover and subsequently were sacrificed after 6 months for analysis encompassing morphology, histology, and immunohistochemistry. Results: At 6 months post-treatment, abdominal aortas subjected to phenol denervation still exhibited a significant reduction in nerve fiber density compared with sham controls. Denervated aortas demonstrated reduced intima-media thickness, increased elastin fragmentation, decreased expression of vascular smooth muscle proteins (α-SMA and MYH11), and elevated adventitial vascular density. Sex-stratified analyses revealed additional dimorphic responses, particularly in aortic collagen and medial cellular density in female animals. Conclusions: Single-timepoint phenol-based chemical denervation induces alterations in abdominal aortic morphology and vascular remodeling over a 6-month period. These findings underscore the potential of the sympathetic nervous system as a therapeutic target for aortic pathologies. Clinical Relevance: Aortic remodeling remains an important consideration in the pathogenesis of aortic disease, including occlusive, aneurysmal, and dissection disease states. The paucity of medical therapies for the treatment of aortic disease has driven considerable interest in elucidating the pathogenesis of these conditions; new therapeutic targets are critically needed. Here, we show significant remodeling after phenol-induced denervation with morphologic, histologic, and immunohistochemical features. Future investigations should integrate sympathetic dysfunction as a potential driver of pathologic aortic wall changes with additional consideration of the sympathetic nervous system as a therapeutic target.

3.
Luminescence ; 39(4): e4748, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38644515

RESUMO

In an acidic buffered solution, erythrosine B can react with amiodarone to form an association complex, which not only generates great enhancement in resonance Rayleigh scattering (RRS) spectrum of erythrosine B at 346.5 nm but also results in quenching of fluorescence spectra of erythrosine B at λemission = 550.4 nm/λexcitation = 528.5 nm. In addition, the formed erythrosine B-amiodarone complex produces a new absorbance peak at 555 nm. The spectral characteristics of the RRS, absorbance, and fluorescence spectra, as well as the optimum analytical conditions, were studied and investigated. As a result, new spectroscopic methods were developed to determine amiodarone by utilizing erythrosine B as a probe. Moreover, the ICH guidelines were used to validate the developed RRS, photometric, and fluorimetric methods. The enhancements in the absorbance and the RRS intensity and the decrease in the fluorescence intensity of the used probe were proportional to the concentration of amiodarone in ranges of 2.5-20.0, 0.2-2.5, and 0.25-1.75 µg/mL, respectively. Furthermore, limit of detection values were 0.52 ng/mL for the spectrophotometric method, 0.051 µg/mL for the RRS method, and 0.075 µg/mL for the fluorimetric method. Moreover, with good recoveries, the developed spectroscopic procedures were applied to analyze amiodarone in its commercial tablets.


Assuntos
Amiodarona , Eritrosina , Espectrometria de Fluorescência , Amiodarona/análise , Amiodarona/química , Eritrosina/química , Eritrosina/análise , Antiarrítmicos/análise , Antiarrítmicos/química , Estrutura Molecular
4.
Biomolecules ; 14(4)2024 Apr 10.
Artigo em Inglês | MEDLINE | ID: mdl-38672477

RESUMO

Serglycin (SRGN) is a pro-tumorigenic proteoglycan expressed and secreted by various aggressive tumors including glioblastoma (GBM). In our study, we investigated the interplay and biological outcomes of SRGN with TGFßRI, CXCR-2 and inflammatory mediators in GBM cells and fibroblasts. SRGN overexpression is associated with poor survival in GBM patients. High SRGN levels also exhibit a positive correlation with increased levels of various inflammatory mediators including members of TGFß signaling pathway, cytokines and receptors including CXCR-2 and proteolytic enzymes in GBM patients. SRGN-suppressed GBM cells show decreased expressions of TGFßRI associated with lower responsiveness to the manipulation of TGFß/TGFßRI pathway and the regulation of pro-tumorigenic properties. Active TGFßRI signaling in control GBM cells promotes their proliferation, invasion, proteolytic and inflammatory potential. Fibroblasts cultured with culture media derived by control SRGN-expressing GBM cells exhibit increased proliferation, migration and overexpression of cytokines and proteolytic enzymes including CXCL-1, IL-8, IL-6, IL-1ß, CCL-20, CCL-2, and MMP-9. Culture media derived by SRGN-suppressed GBM cells fail to induce the above properties to fibroblasts. Importantly, the activation of fibroblasts by GBM cells not only relies on the expression of SRGN in GBM cells but also on active CXCR-2 signaling both in GBM cells and fibroblasts.


Assuntos
Fibroblastos , Glioblastoma , Proteoglicanas , Receptores de Interleucina-8B , Transdução de Sinais , Proteínas de Transporte Vesicular , Humanos , Glioblastoma/metabolismo , Glioblastoma/patologia , Glioblastoma/genética , Receptores de Interleucina-8B/metabolismo , Receptores de Interleucina-8B/genética , Proteoglicanas/metabolismo , Proteoglicanas/genética , Fibroblastos/metabolismo , Fibroblastos/patologia , Proteínas de Transporte Vesicular/metabolismo , Proteínas de Transporte Vesicular/genética , Linhagem Celular Tumoral , Proliferação de Células/genética , Comunicação Parácrina , Receptor do Fator de Crescimento Transformador beta Tipo I/metabolismo , Receptor do Fator de Crescimento Transformador beta Tipo I/genética , Neoplasias Encefálicas/metabolismo , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/genética , Regulação Neoplásica da Expressão Gênica , Células Estromais/metabolismo , Células Estromais/patologia , Carcinogênese/genética , Carcinogênese/metabolismo , Carcinogênese/patologia
6.
Cureus ; 16(2): e53888, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38465157

RESUMO

Consanguineous marriages, where spouses are related by blood, have been a longstanding practice in human history. The primary medical concern with consanguineous marriages is the increased risk of genetic disorders. When closely related individuals reproduce, there is a higher probability that both parents carry the same genetic mutation. In Arab countries, especially Saudi Arabia, the rate of consanguineous marriage is high compared with Western European and Asian countries. This high rate is directly proportionate with elevated risk of genetic disorders, including congenital heart diseases, renal diseases, and rare blood disorders. Additionally, it was noted that the rate of negative postnatal outcomes is higher in consanguineous marriages compared with the general population. These observations indicate the necessity of tackling this area and highlighting the consequences of this practice. In this review, we aim to discuss the current evidence regarding the association between consanguineous marriages and genetic disorders in Saudi Arabia.

7.
Bioeng Transl Med ; 8(6): e10592, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38023728

RESUMO

Diabetes is a known risk factor for various cardiovascular complications, mediated by endothelial dysfunction. Despite the high prevalence of this metabolic disorder, there is a lack of in vitro models that recapitulate the complexity of genetic and environmental factors associated with diabetic endothelial dysfunction. Here, we utilized human induced pluripotent stem cell (iPSC)-derived endothelial cells (ECs) to develop in vitro models of diabetic endothelial dysfunction. We found that the diabetic phenotype was recapitulated in diabetic patient-derived iPSC-ECs, even in the absence of a diabetogenic environment. Subsequent exposure to culture conditions that mimic the diabetic clinical chemistry induced a diabetic phenotype in healthy iPSC-ECs but did not affect the already dysfunctional diabetic iPSC-ECs. RNA-seq analysis revealed extensive transcriptome-wide differences between cells derived from healthy individuals and diabetic patients. The in vitro disease models were used as a screening platform which identified angiotensin receptor blockers (ARBs) that improved endothelial function in vitro for each patient. In summary, we present in vitro models of diabetic endothelial dysfunction using iPSC technology, taking into account the complexity of genetic and environmental factors in the metabolic disorder. Our study provides novel insights into the pathophysiology of diabetic endothelial dysfunction and highlights the potential of iPSC-based models for drug discovery and personalized medicine.

8.
Cureus ; 15(8): e44267, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37772227

RESUMO

Background Fluoropyrimidine-based regimens are used for the management of colorectal cancer, which is the second most common cancer in Saudi Arabia. We aimed to study the incidence of hematological toxicities in colorectal cancer patients treated with fluoropyrimidine and fluoropyrimidine-based regimens at Princess Noorah Oncology Center, King Abdulaziz Medical City- Jeddah, Saudi Arabia.  Methods A retrospective cohort study that included adult colorectal cancer patients who were treated with fluoropyrimidine-based regimens from January 1, 2018 to December 31, 2018 at Princess Noorah Oncology Center, Jeddah, Saudi Arabia was performed. Our primary objective was to determine the incidence of anemia, neutropenia, and thrombocytopenia in colorectal cancer patients treated with fluoropyrimidines and fluoropyrimidine-based regimens. Secondary objectives were to assess the grade of hematological toxicities associated with 5-fluorouracil (5-FU) use and to determine the frequency of unplanned hospital admissions or emergency department (ED) visits after receiving fluoropyrimidine-based regimens. The collected data contained patients' characteristics (weight, height, age, gender, and diagnosis), chemotherapy agents, and hematological toxicity-related findings such as absolute neutrophil count, hemoglobin, platelet count, and number of ED visits or hospital admissions during fluoropyrimidine-based chemotherapy regimens. Results Of the 570 cycles of the fluoropyrimidine-based regimen received by 68 patients, hematological toxicities were observed in 508 (89.1%) cycles, and grade ≥ 3 grade toxicities were found in 46 (8.1%) cycles. The results demonstrated a statistically significant difference in the incidence of grade 3-4 neutropenia between patients who received bolus administration of 5-FU and those who did not (8.5% vs. 2.3% respectively, p=0.025). The incidence of grade 3-4 anemia was higher in the bolus group (11.3%) compared to the group where bolus was omitted (4.6%); however, the difference was not statistically significant (p=0.059). Furthermore, there was no significant difference among the two groups for grade 3 and grade 4 thrombocytopenia (0.0% with bolus given and 0.7% with bolus omission p=1.00). Conclusion Our retrospective study showed that there have been significantly higher grade 3-4 hematological toxicities observed with bolus administration of 5-FU, which confirms the previous reports.

9.
Neurosciences (Riyadh) ; 28(3): 177-183, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37482382

RESUMO

OBJECTIVES: To establish the prevalence of Neuropsychiatric Systemic Lupus Erythematosus (NPSLE) symptoms in Saudi Arabia and the variables that are linked to it. METHODS: This cross-sectional study was conducted in June 2021 among SLE patients in Saudi Arabia. The Saudi Rheumatism Association exploited social media platforms to provide a self-administered online questionnaire to SLE patients. All data analyses were performed using the Statistical Packages for Social Sciences (SPSS) version 26. RESULTS: Two hundred and eight SLE patients participated in the study (females 91.3% vs. males 8.7%). In addition, 13.5% of patients had a family history of SLE, and 26% had SLE for one to 3 years. The most common symptoms of NPSLE were alteration or loss of sensation (53.4%), followed by fear (52.4%), and headache (48.1%). The prevalence of patients with NPSLE was 40%. In a multivariate regression model, fear, altered sensations, cerebrovascular illness, sleep disruption, and diminished interest in routine activities were identified as independent risk variables for NPSLE CONCLUSION: Nearly half of SLE patients demonstrated NP manifestations, with significant symptoms including fear, alteration of sensation, cerebrovascular disease, sleep disturbance, and reduced interest in normal activities. To detect the pathophysiology of NPSLE, it is necessary to understand the relationship between neuropsychiatric morbidity and other relevant rheumatic disorders in the SLE population.


Assuntos
Lúpus Eritematoso Sistêmico , Vasculite Associada ao Lúpus do Sistema Nervoso Central , Masculino , Feminino , Humanos , Arábia Saudita/epidemiologia , Estudos Transversais , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/epidemiologia , Vasculite Associada ao Lúpus do Sistema Nervoso Central/complicações , Vasculite Associada ao Lúpus do Sistema Nervoso Central/diagnóstico , Cefaleia/complicações
10.
Cureus ; 15(3): e36563, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37095806

RESUMO

Eccrine poroma (EP) is a benign adnexal tumor that is derived from acrosyringium, the intraepidermal eccrine duct of sweat glands. The standard treatment for eccrine poroma is complete excision. However, this case report highlights cryotherapy as one of the modalities in treating eccrine poroma. We present a case of a 33-year-old male patient who was a known case of generalized vitiligo since he was nine years old. During our skin checkup before starting him on phototherapy, we found a mass over the palmar aspect of the middle finger of the right hand that started to appear five years ago. The mass gradually increased in size, was painless, has no discharge, and was not associated with a history of trauma or infection. The review of systems was unremarkable. Skin examination revealed an asymptomatic, 2.0 × 1.5 cm-sized, solitary, collarette-encircled, dome-shaped, flesh-colored, non-pigmented, deep-red nodule protrusion from the palmar aspect of the middle finger of the right hand. Poroma was considered as the diagnosis, and a punch skin biopsy was performed to confirm the diagnosis and to roll out pyogenic granuloma, amelanotic melanoma, and porocarcinoma as differential diagnoses. A 3 mm punch skin biopsy was performed under local anesthesia and was found to be histologically consistent with eccrine poroma. Hence, cryosurgery was chosen based on histological favorable features. We used cryospray in a single session of 15 seconds in three applications, with five-second intervals in between (skin frosting recovery). Furthermore, the lesion was completely curative with a single session of cryotherapy. The patient followed up for one year without evidence of recurrence.

11.
Cureus ; 15(3): e35776, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37025729

RESUMO

Diffuse capillary malformation with overgrowth (DCMO) is a rare condition that is characterized by capillary malformation and soft tissue hypertrophy. Here we report the case of a one-year-old male child with no past medical history who presented with skin lesions persistent since birth and associated with no symptoms. There were widespread non-scaly reticulated erythematous patches all over his body, including the abdominal wall. The circumference of the right calf and mid-thigh was 13 cm and 20 cm respectively whereas the circumference of the left calf and mid-thigh was 11 cm and 18 cm respectively. The length of both lower extremities was similar. There was also syndactyly of the right second and third toes. Differential diagnoses include cutis marmorata telangiectatica congenita (CMTC), DCMO, and macrocephaly-capillary malformation (M-CM) syndrome. Based on clinical features, the patient was diagnosed with DCMO. He was put under follow-up by pediatric orthopedics for periodic monitoring of growth asymmetry.

12.
Biotechnol Bioeng ; 120(4): 953-969, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36544433

RESUMO

Calcification in prosthetic vascular conduits is a major challenge in cardiac and vascular surgery that compromises the long-term performance of these devices. Significant research efforts have been made to understand the etiology of calcification in the cardiovascular system and to combat calcification in various cardiovascular devices. Novel biomaterial design and tissue engineering strategies have shown promise in preventing or delaying calcification in prosthetic vascular grafts. In this review, we highlight recent advancements in the development of acellular prosthetic vascular grafts with preclinical success in attenuating calcification through advanced biomaterial design. We also discuss the mechanisms of action involved in the designs that will contribute to the further understanding of cardiovascular calcification. Lastly, recent insights into the etiology of vascular calcification will guide the design of future prosthetic vascular grafts with greater potential for translational success.


Assuntos
Prótese Vascular , Engenharia Tecidual , Materiais Biocompatíveis
13.
Cureus ; 15(11): e49725, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38161816

RESUMO

Background This study aims to explore the factors associated with artificial intelligence (AI) and patient autonomy in obesity treatment decision-making. Methodology A cross-sectional, online, descriptive survey design was adopted in this study. The survey instrument incorporated the Ideal Patient Autonomy Scale (IPAS) and other factors affecting patient autonomy in the AI-patient relationship. The study participants included 74 physicians, 55 dieticians, and 273 obese patients. Results Different views were expressed in the scales AI knows the best (µ = 2.95-3.15) and the patient should decide (µ = 2.95-3.16). Ethical concerns (µ = 3.24) and perceived privacy risks (µ = 3.58) were identified as having a more negative influence on patient autonomy compared to personal innovativeness (µ = 2.41) and trust (µ = 2.85). Physicians and dieticians expressed significantly higher trust in AI compared to patients (p < 0.05). Conclusions Patient autonomy in the AI-patient relationship is significantly affected by privacy, trust, and ethical issues. As trust is a multifaceted factor and AI is a novel technology in healthcare, it is essential to fully explore the various factors influencing trust and patient autonomy.

14.
Cureus ; 14(11): e30954, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36465210

RESUMO

INTRODUCTION: Short tandem repeats (STRs) have been used for various identity typing methods worldwide. They have high discrimination power in human identification in forensics, paternity testing, missed personal identification, genetic diseases, and gene regulatory functions. They have also been used to detect and monitor the stability of diseases, including various types of cancer. This study aimed to investigate the impact of leukemia on the detection and stability of STR markers. METHODS: DNA was isolated from 30 participants (15 with chronic myeloid leukemia( CML) and 15 healthy controls) and used to amplify STR markers using specific primers. RESULTS: We found that the blood of those with leukemia had more 9.3 and 9 alleles at the tyrosine hydroxylase 1 (TH01) marker than the blood of the healthy control samples. The results of this study will help researchers understand leukemia's effect on the detection and stability of STR markers in leukemic patients compared to healthy individuals. CONCLUSION: Our results demonstrate that STR markers could become useful in genetic studies of leukemia cases.

15.
Adv Orthop ; 2022: 7122643, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36071732

RESUMO

Background: Sciatica is a relatively common condition, with a lifetime incidence varying from 13% to 40%. The corresponding annual incidence of an episode of sciatica ranges from 1% to 5%. The exact cause of sciatica is unknown to this day; treatment methods and practices differ between individuals based on their cultural background, socioeconomic status, and religious beliefs. This study aimed to assess the knowledge and attitude toward sciatica pain among adults in Saudi Arabia. Methods: A cross-sectional study was conducted among the adult population in Saudi Arabia. A self-administered questionnaire was distributed among the study population using an online survey. Questions were divided into four groups, each containing multiple questions covering the following aspects: demographic data, past medical history, and the assessment of knowledge and attitudes regarding sciatica. Results: A total of 3,764 respondents were involved in this study, with an age range of 18-65 years old (females 59.8%). The mean knowledge score was 3.8 (SD 2.1), with the majority having poor knowledge (60.1%). The most common source of sciatica information was an orthopedic or a neurosurgeon, while the most common self-treatment used was painkiller medications (30.8%). The mean attitude score was 35.8 (SD 5.3), with most respondents having a neutral attitude (80.3%). The factors correlated with an increase in knowledge and attitude were having a bachelor's or higher degree and living in an urban area. Conclusion: While the attitude of the adult population toward sciatica pain seems adequate, their knowledge was shown to be deficient. Furthermore, when comparing diagnosed individuals living in cities with those in rural areas, both knowledge and attitudes were shown to be better in individuals living in cities. Awareness programs by health institutions and healthcare professionals are needed to enhance patients knowledge. Various media can be utilized to enhance patients knowledge including social media platforms.

16.
Clin Case Rep ; 9(11): e04867, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34765196

RESUMO

Overdiagnosis of papillary thyroid hyperplasia which may mimic papillary thyroid carcinoma in fine-needle aspiration and frozen section has a serious impact on the patient. Therefore, it is important to know the difference between them to avoid over or undertreatment.

17.
Clin Cosmet Investig Dermatol ; 14: 889-899, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34285535

RESUMO

PURPOSE: Due to the COVID-19 pandemic, recommendations to prevent infection suggest increasing the frequency of handwashing and disinfection; however, these measures can have negative implications on our skin. This study aims to evaluate whether these measures correlate with new-onset skin damage or can exacerbate hand eczema among the general population. MATERIALS AND METHODS: This was a descriptive, cross-sectional, survey-based study, including the general population of Mecca region, Saudi Arabia. To achieve the study's aim, an online questionnaire to the general population comprising 25 items was distributed via social media apps during the pandemic between October 23 and November 21, 2020. Data were automatically collected in Excel and entered into SPSS for analysis. RESULTS: A total of 783 participants were included in this study, of whom 695 (88.8%) were female. A history of hand eczema was reported among 123 (15.7%) participants, and 270 (34.5%) had a history of atopy. During the COVID-19 pandemic, 86 (13.0%) participants noticed new-onset skin irritation, while 81 (31.3%) of the participants reported exacerbation of earlier hand allergic dermatitis. The most frequent symptoms were dryness and feeling of tightness. Additionally, most participants among both groups noticed that skin lesions appeared for less than 10 days. The frequent handwashing statistically increased following the onset of the pandemic (p=0.001), there is association between new-onset symptoms and more frequent handwashing, as well as the use of hand disinfectants, during the pandemic (p=0.001). CONCLUSION: Our study suggests that the general population's skin was negatively affected by COVID-19 precautions, particularly those with a history of hand eczema. We recommend spreading awareness of skin protective modalities and the use of new infection prevention measures, such as regular skin moisturization for hand protection and possibly using less damaging skin disinfectants like ozonized water provided it is scientifically proven effective in disinfecting COVID-19 virus.

18.
Brain Dev ; 43(3): 380-388, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33199158

RESUMO

BACKGROUND: Walker-Warburg syndrome (WWS), an autosomal recessive disease, is the most severe phenotype of congenital muscular dystrophies. Its diagnosis remains primarily clinical and radiological. Identification of its causative variants will assist genetic counseling. We aim to describe genetic and neuroimaging findings of WWS and investigate the correlation between them. METHODS: We retrospectively reviewed the clinical, genetic and neuroimaging findings of eleven Saudi neonates diagnosed with WWS between April 2012 and December 2018 in a single tertiary care center. Correlation between neuroimaging and genetic findings was investigated. RESULTS: All patients had macrocephaly except one who had intrauterine growth restriction. Dysmorphic features were identified in nearly half of the patients. Creatine kinase levels were available in nine patients and were always elevated. Homozygous pathogenic variants were identified in all patients spanning POMT1 (n = 5), TMEM5 (n = 3), ISPD (n = 2) and POMT2 (n = 1) including one patient who had a dual molecular diagnosis of ISPD and PGAP2. On neuroimaging, all patients showed cobblestone cortex, classical infratentorial findings, and hydrocephalus. Other cerebral cortical malformations included subependymal heterotopia, polymicrogyria and open-lip schizencephaly in four, two and one patients, respectively. Buphthalmos and microphthalmia were the most prevalent orbital findings and found in all patients either unilaterally or bilaterally. CONCLUSION: WWS is a genetically heterogeneous disorder among Saudis. The case with an additional PGAP2-related phenotype exemplifies the increased risk of dual autosomal recessive disorders in consanguineous populations. MRI is excellent in demonstrating spectrum of WWS brain and orbital malformations; however, no definite correlation could be found between the MRI findings and the genetic variant.


Assuntos
Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Síndrome de Walker-Warburg/diagnóstico por imagem , Síndrome de Walker-Warburg/genética , Síndrome de Walker-Warburg/patologia , Feminino , Heterogeneidade Genética , Humanos , Recém-Nascido , Masculino , Manosiltransferases/genética , Proteínas de Membrana/genética , Mutação , Neuroimagem , Nucleotidiltransferases/genética , Pentosiltransferases/genética , Estudos Retrospectivos , Arábia Saudita
19.
J Family Med Prim Care ; 8(12): 3826-3831, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31879620

RESUMO

BACKGROUND: Musculoskeletal pain (MSP) in the neck, shoulder, and lower back is common widespread among medical students. The objective of this research is to estimate the prevalence of neck, shoulder, and low-back pains and to explore factors associated with MSP among medical students at Jizan University in southwest of Saudi Arabia. METHODS: A cross-sectional, self-administered questionnaire-based study was conducted among undergraduate medical students of Jazan University. A total of 440 students were selected by random sampling. Descriptive statistics, a Chi-squared test, and logistic regression were performed to examine the prevalence, associations, and predictors of MSP. RESULTS: The overall prevalence of MSP was (53.5%; 95% CI: 49.2-58.4). Neck pain was reported by 197 (44.8%) in the week prior to the study and by 268 (60.9%) in the year prior to the survey. Regarding shoulder pain, it was reported by 231 (52.5%) in the week prior to the study and 175 (39.8%) in the year prior to the study. Regarding low-back pain, it was reported by 147 (33.4%) in the week prior to the study and 270 (61.4%) in the year prior to the study. Factors associated with the risk of MSP include history of trauma (OR = 2.70; 95% CI: 1.36-5.36 depressive symptoms (OR = 1.94; 95% CI: 1.03-3.66) and report of psychosomatic symptoms (OR = 2.98; 95% CI: 1.71-5.18). CONCLUSION: In conclusion, the proportion of medical students with MSP was very high. Factors associated with the increased risk of MSP include history of trauma, depressive, and psychosomatic symptoms. Intervention program may help improving the musculoskeletal health of the medical students and to hence their quality of life.

20.
J Taibah Univ Med Sci ; 13(1): 83-86, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31435307

RESUMO

Congenital cervical teratomas are rare tumours arising from the neck and consist of three major tissue layers of an embryo: the ectoderm, endoderm, and mesoderm. A great majority of cervical teratomas are benign tumours. However, the clinical significance of these tumours arises from the complications they can cause during pregnancy due to the postnatal mass effect on the airway and oesophagus of the neonate. Diagnosis of a congenital cervical teratoma is possible during an early prenatal ultrasound evaluation. The appearance depends on the size of the tumour, but it is typically a large neck mass with solid and cystic components that causes hyperextension of the neck and is frequently associated with polyhydramnios. In the postnatal period, ultrasound helps in differentiating cervical teratoma from other common congenital cervical masses. MRI is the modality of choice to evaluate the consistency of the tumour, surrounding soft tissue extent of the tumour, and any mass effect on other cervical structures. In our case report, we present a case of a full-term baby that was delivered with a large cervical mass. MRI was helpful in demonstrating the complex content of the mass, surrounding soft tissue extension, and mass effect on other major cervical structures. The clear demarcation of the mass facilitated complete surgical removal without complications.

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