Solitary Fibrous Tumor of Head and Neck Region: A Series of Three Cases at an Uncommon Location With a Review of the Literature.

Solitary fibrous tumors (SFTs) uncommonly involve the head and neck region. Head and neck SFTs (HNSFTs) exhibit diverse histological features and can mimic several neoplasms with different treatment and behavior. Herein, we report the clinicopathological features of three cases of HNSFT. Case 1 was a 29-year-old female who presented with a nasal cavity mass measuring 3.5 cm. The patient underwent surgical excision. Microscopic examination revealed classic histological and immunohistochemical (IHC) features of SFT. Unusual histological features included epithelioid morphology, clear cells, and edematous change. She developed local recurrence after 11 months, which was also treated with surgery. Case 2 was a 55-year-old male who developed a 1-cm mass at the buccal mucosa. Surgical excision of the tumor was performed. The tumor was completely circumscribed microscopically. Characteristic histological and IHC features of SFT were identified. Unusual histological features observed were an adenomatous pattern, clear cells, and myxoid change. The patient was alive and disease-free at the 12-month follow-up. Case 3 was a 59-year-old female presenting with a medial canthus mass measuring 1.4 cm. The patient underwent surgical excision. Histological and IHC features observed were diagnostic for SFT. Unusual histological features identified were wavy nuclei and multinucleated stromal giant cells. The patient was alive and disease-free at the 124-month follow-up. Diagnosis of SFT can be challenging in unusual locations like the head and neck region. In addition, the histological spectrum of HNSFT is diverse. Therefore, knowledge about unusual histological features and classic IHC expression is essential for establishing correct diagnosis. Long-term follow-up is recommended because of the risk of recurrence in HNSFT.

Retraction: Retroperitoneal Lipoma: An Unusual Etiology of Urge Incontinence.

[This retracts the article DOI: 10.7759/cureus.19878.].

Comparative Study of Complete Blood Count Between High-Altitude and Sea-Level Residents in West Saudi Arabia.

The reduction in oxygen partial pressure at high altitudes leads to diminished oxygen saturation in the arteries, stimulating erythropoietin production and erythropoiesis to restore appropriate oxygenation. While many studies have explored acclimatization to high altitude and its effects on complete blood count (CBC) parameters, our research uniquely examined both male and female healthy individuals, emphasizing the novelty of gender-specific observations. We analyzed 1,160 individuals in Taif (Al Hada), east Saudi Arabia, a high-altitude region, and compared them to 1,044 counterparts in Jeddah, at sea level. Our results revealed significant variations in CBC parameters, including white blood count, red blood count, hemoglobin, hematocrit, platelets, neutrophils, lymphocytes, monocytes, eosinophils, and basophils, reflecting the body's hypoxic response. These variations were observed in both genders, with specific differences noted between males and females. For example, NEU (neutrophils), representing the absolute count of a type of white blood cell essential in the immune system's defense, showed significant variations for males. The male results show that the variation in males between the sea level and high altitudes indicated significant p-values for all CBC parameters except NEU between at sea level (Jeddah city), whose p-value was 0.8696, and at high altitude (Taif city, Al Hada). In contrast, MONO (monocytes), another type of white blood cell involved in immune response, and RBC (red blood cells), responsible for oxygen transport, were mentioned but did not show significant variations for females. The full results for females showed significant results (P<0.0001) for BASO, HCT, HGB, MCH, MCHC, MPV, PLT, RDW, and WBC between the sea-level altitude and high altitude for females. Also, EOS and LYM showed significant P-values of 0.0002 and 0.0001, respectively, while MONO, NEU, and RBC indicated no significance between the sea-level altitude and high altitude for females. The p-values of MONO, NEU, and RBC, respectively, were 0.1907, 0.1259, and 0.0677. The results for both genders combined showed significant variations of all CBC parameters (P<0.0001) between the sea-level altitude and high altitude except for MONO, NEU, and RBC, which were not significant for both males and females, with p-values of 0.1589, 0.2911, and 0.0595, respectively. All unhealthy individuals were excluded from the study with any condition that would cause significant changes in CBC parameters and would skew the results, ensuring a focus on physiological adaptations in healthy subjects. By comparing healthy individuals and examining each gender separately, this study contributes valuable insights into high-altitude acclimatization, enhancing our understanding of physiological adaptations and potentially guiding health management in such environments within the normal range.

Interplay of Mendelian and polygenic risk factors in Arab breast cancer patients.

BACKGROUND: Breast cancer patients from the indigenous Arab population present much earlier than patients from Western countries and have traditionally been underrepresented in cancer genomics studies. The contribution of polygenic and Mendelian risk toward the earlier onset of breast cancer in the population remains elusive. METHODS: We performed low-pass whole genome sequencing (lpWGS) and whole-exome sequencing (WES) from 220 female breast cancer patients unselected for positive family history from the indigenous Arab population. Using publicly available resources, we imputed population-specific variants and calculated breast cancer burden-sensitive polygenic risk scores (PRS). Variant pathogenicity was also evaluated on exome variants with high coverage. RESULTS: Variants imputed from lpWGS showed high concordance with paired exome (median dosage correlation: 0.9459, Interquartile range: 0.9410-0.9490). After adjusting the PRS to the Arab population, we found significant associations between PRS performance in risk prediction and first-degree relative breast cancer history prediction (Spearman rho=0.43, p = 0.03), where breast cancer patients in the top PRS decile are 5.53 (95% CI 1.76-17.97, p = 0.003) times more likely also to have a first-degree relative diagnosed with breast cancer compared to those in the middle deciles. In addition, we found evidence for the genetic liability threshold model of breast cancer where among patients with a family history of breast cancer, pathogenic rare variant carriers had significantly lower PRS than non-carriers (p = 0.0205, Mann-Whitney U test) while for non-carriers every standard deviation increase in PRS corresponded to 4.52 years (95% CI 8.88-0.17, p = 0.042) earlier age of presentation. CONCLUSIONS: Overall, our study provides a framework to assess polygenic risk in an understudied population using lpWGS and identifies common variant risk as a factor independent of pathogenic variant carrier status for earlier age of onset of breast cancer among indigenous Arab breast cancer patients.

Profiling of pharmacogenomic variants in CYP2D6 and DPYD in indigenous Arab breast cancer patients.

Aim: The indigenous Arab population is underrepresented in genomic studies and the landscape of actionable pharmacogenomic variants among Arab breast cancer patients remains unclear. Materials & methods: Exome sequencing was performed on 220 unselected Arab female breast cancer patients and germline variants in CYP2D6 and DPYD were profiled using a deep learning method. Results: In total, 13 (5.9%) patients had clinically actionable results and 56 (25.5%) carried an allele in DYPD or CYP2D6 with unknown impact on drug metabolism. In addition, four unique novel missense variants were discovered, including one in CYP2D6 (p.Arg64Leu) with high predicted pathogenicity. Conclusion: A nontrivial subset of Arab breast cancer patients can potentially benefit from pretreatment molecular profiling, and further study is needed to improve characterization of the pharmacogenomic landscape.

Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.

BACKGROUND: Epilepsy, a serious chronic neurological condition effecting up to 100 million people globally, has clear genetic underpinnings including common and rare variants. In Saudi Arabia, the prevalence of epilepsy is high and caused mainly by perinatal and genetic factors. No whole-exome sequencing (WES) studies have been performed to date in Saudi Arabian epilepsy cohorts. This offers a unique opportunity for the discovery of rare genetic variants impacting this disease as there is a high rate of consanguinity among large tribal pedigrees. RESULTS: We performed WES on 144 individuals diagnosed with epilepsy, to interrogate known epilepsy-related genes for known and functional novel variants. We also used an American College of Medical Genetics (ACMG) guideline-based variant prioritization approach in an attempt to discover putative causative variants. We identified 32 potentially causative pathogenic variants across 30 different genes in 44/144 (30%) of these Saudi epilepsy individuals. We also identified 232 variants of unknown significance (VUS) across 101 different genes in 133/144 (92%) subjects. Strong enrichment of variants of likely pathogenicity was observed in previously described epilepsy-associated loci, and a number of putative pathogenic variants in novel loci are also observed. CONCLUSION: Several putative pathogenic variants in known epilepsy-related loci were identified for the first time in our population, in addition to several potential new loci which may be prioritized for further investigation.

KRAS G12C-Mutant Non-Small-Cell Lung Adenocarcinoma: First Documented Report in the Arabian Gulf.

We report the first documented case series of two lung adenocarcinoma patients demonstrating Kirsten rat sarcoma viral oncogene homolog (KRAS) G12C mutations by reverse transcription-polymerase chain reaction techniques from Saudi Arabia. Both patients were males aged 64 and 76 years. The first had a heavy smoking history, while the second did not report any history of smoking. The tumor subtype was identified to be non-mucinous lung adenocarcinoma in both cases. The younger patient presented with generalized lymphadenopathy and a right-sided lung mass lesion, while the older patient exhibited stage III-A left lung adenocarcinoma that required rapid response. An initial examination of the first case showed a right-sided mediastinal shift, bilateral neck lymphadenopathy, and poorly differentiated neoplasm from a right supraclavicular core biopsy, leading to treatment with palliatives along with regular checkups. The second case was afebrile after being confirmed to be vitally stable and laboratory testing (Neutr 100). Further studies, specifically on large numbers of patients from the Arabian Gulf, are needed to confirm significant differences between the national and international populations. Additionally, future studies should investigate more differences in the differentiation of KRAS-mutant lung adenocarcinoma between patients from the Arabian Gulf and others.

Survey of Primary Care Physicians' Screening and Treatment Practices for Prediabetes in Saudi Arabia.

Background Prediabetes is defined as a condition in which glucose levels do not fulfill the criteria for type 2 diabetes mellitus (T2DM), indicating that the patient is at an increased risk of developing T2DM. The risk of developing T2DM can be decreased by adequately managing prediabetes. This study aimed to assess screening and therapeutic approaches to prediabetes among primary care physicians in Saudi Arabia because there is little contemporary data available on this topic. Methodology A cross-sectional study was performed among primary care physicians in Saudi Arabia. The participants completed a validated online survey questionnaire via Google Forms. Data collected included participants' demographic information, knowledge of T2DM risk factors, and opinions and beliefs on prediabetes management. Results In total, 155 primary care physicians responded to the questionnaire; 51% were male, 18.7% worked in Riyadh City, and 81.3% specialized in family medicine. Most study respondents (71.9%) were residents, and 64.5% worked for the Ministry of Health. Overall, 93.5% of the respondents had completed part of their postgraduate training in Saudi Arabia. Moreover, 27.7% of the respondents were aware of all nine risk factors associated with T2DM. The correct fasting glucose and hemoglobin A1c ranges for the diagnosis of prediabetes were identified by 50% and 43.6% of participants, respectively. Most respondents believed lifestyle modification and metformin to be the most effective management approaches to prediabetes, whereas lack of motivation toward lifestyle changes was deemed to be a major barrier. Conclusions We found significant gaps in primary care physicians' knowledge regarding prediabetes in Saudi Arabia, contributing to underscreening of the condition and undertreatment. Identifying these gaps is essential for focussing educational endeavors toward primary care physicians.

Retroperitoneal Lipoma: An Unusual Etiology of Urge Incontinence.

Urge incontinence is the most frequent type of urinary incontinence that can be due to bladder outlet obstruction or overactive bladder. A focused history is crucial to identify the type of urinary incontinence and the possible etiology. We report the case of a 67-year-old man with urinary frequency, urgency, and nocturia. However, his urine stream is normal with no history of an intermittent stream, hesitancy, or postvoid dribbling. Digital rectal examination revealed normal prostatic size. Urinalysis results were normal. Urine culture showed no growth. The patient was prescribed symptomatic treatment in the form of anticholinergic medication but failed to provide any clinical improvement. Urodynamic studies suggested the diagnosis of detrusor instability. A computed tomography (CT) scan of the abdomen was performed and demonstrated the presence of a large retroperitoneal lipoma exerting a mass effect on the bladder. The mass was successfully resected by laparotomy operation. Following the operation, the patient had complete resolution of his symptoms. The retroperitoneal region is an extremely rare site for lipoma. Patients with urinary urgency should be carefully evaluated for any structural lesion causing a compressive effect on the bladder.

Impact of depression and fatigue on relapsing remitting multiple sclerosis in Kingdom of Saudi Arabia.

OBJECTIVES: To determine relationship between fatigue, depression with the registration in multiple sclerosis (MS) society activity, and stress with the risk developing a new attack in patients with Relapsing remitting MS (RRMS) in the Kingdom of Saudi Arabia (KSA). METHODS: This was a cohort retrospective study conducted in the KSA between July 2018 and July 2019 which included a total of 465 RRMS patients. Data were collected during interviews using the Beck Depression Inventory (BDI) and Modified Fatigue Impacts Scale (MFIS). Demographic and clinical data were also collected. RESULTS: Of 465 participants, 317 expressed psychological stress before the last attack, 67 of whom developed an attack within 4 weeks, and 250 of whom developed an attack after 4 weeks. Significantly lower BDI scores were associated with registration in MS associations (p=0.003, df = 5). Significantly lower MFIS scores were associated with registration in MS associations (p=0.001, df = 5). CONCLUSION: The majority of RRMS patients have a significant fatigue and depression, and there are significant relationships between registration in the MS society and MFIS and BDI scores where patients who officially registered in MS society have lower score in MFIS and BDI. we recommend regular follow-ups with a psychologist and/or registration with MS societies.

Relationship Between Glycated Haemoglobin and Carotid Atherosclerotic Disease Among Patients with Acute Ischaemic Stroke.

OBJECTIVES: This study aimed to determine the relationship between glycaemic control and carotid atherosclerotic disease among patients with acute ischaemic stroke (AIS). METHODS: This retrospective cross-sectional study took place in the Neurology Department of King Fahad Hospital of University, Khobar, Saudi Arabia, from April to October 2017. Data were collected from the medical records of 244 patients with a diagnosis of AIS confirmed by computed tomography. Doppler ultrasounds of the carotid artery were performed to determine the presence of increased carotid intima media thickness (CIMT) and plaques. RESULTS: Significantly higher mean glycated haemoglobin (HbA1c) levels were noted in cases with high CIMT values (P = 0.002), but not in cases with carotid plaques (P = 0.360). In addition, there was a significant association between diabetes mellitus (DM) and high CIMT (P = 0.045), but not with carotid plaques (P = 0.075). Finally, while dyslipidaemia and age were independently correlated with high CIMT values (P = 0.034 and <0.001, respectively) and carotid plaques (P <0.001 each), no independent relationships were noted in terms of gender and other risk factors like DM, hypertension and smoking (P >0.050 each). CONCLUSION: High HbA1c levels were associated with high CIMT values, but not with carotid plaques. Therefore, HbA1c levels may be useful as an indirect marker of the initial stages of carotid artery atherosclerosis.