Background
Pleomorphic xanthoastrocytoma is a rare astrocytic tumor often diagnosed at a young age. Typically, they appear as supratentorial cortical tumors, frequently involving the temporal lobe ...with few reported rare locations. The prognosis is favorable following surgical excision; however, recurrence, dissemination, and anaplastic transformation occurred in some cases.
Case presentation
A 50-year-old female presented with convulsions and an altered consciousness. Imaging showed a periventricular mixed solid and cystic lesion. Histopathological examination revealed features of pleomorphic xanthoastrocytoma WHO grade 2 without necrosis or mitotic activity.
Conclusions
This report highlights the classic imaging findings of pleomorphic xanthoastrocytoma but in an atypical periventricular location. Although rare, pleomorphic xanthoastrocytoma should be considered in the differential diagnosis of mixed solid and cystic periventricular lesions.
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.
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.
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.
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.
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.
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.
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 TGFβRI, 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 TGFβ signaling pathway, cytokines and receptors including CXCR-2 and proteolytic enzymes in GBM patients. SRGN-suppressed GBM cells show decreased expressions of TGFβRI associated with lower responsiveness to the manipulation of TGFβ/TGFβRI pathway and the regulation of pro-tumorigenic properties. Active TGFβRI 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-1β, 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.
Antibiotic resistance marker was used in this investigation because they are selected;e markers and effective in different hosts. This study used Zeocin binding protein (ZBP) due to its known 3D ...structure and applicability in prokaryotic and eukaryotic hosts. A library of 22 mutations was developed through a rational design strategy. Subsequently, a selection strategy was used to identify destabilizing mutations in the ZBP. ZBP variants were expressed in E.coli using a leaky expression approach, and minimum inhibitory concentration (MIC) was calculated by cultivating different variants at various Zeocin concentrations. Zeocin resistance was drastically decreased in some ZBP variants. Positive controls (wild-type ZBP) exhibited high resistance, while negative controls (pET vector without ZBP) showed susceptibility. Two variants (ZBP P9E and ZBP R26F) displayed drastic resistance loss. The variants reported in this study may identify molecular chaperones and folding modulators affecting proteostasis. These variants can potentially discover chemical chaperones that improve the stability and solubility of destabilized ZBP variants.
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.
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.
To establish the prevalence of Neuropsychiatric Systemic Lupus Erythematosus (NPSLE) symptoms in Saudi Arabia and the variables that are linked to it.
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.
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.
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