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Objective: The human gut microbiota is crucial to maintaining health and preventing diseases. The general population‘s knowledge, attitudes, and practices regarding microbiota composition and the factors affecting it remain poorly understood in Saudi Arabia. The present cross-sectional study aimed to evaluate the level of knowledge, attitudes, and practices among the general population in the Jazan Province of Saudi Arabia regarding the gut microbiota and its main influencing factors. Materials and Methods: A descriptive, cross-sectional design was employed, utilizing a validated self-administered online questionnaire to collect data from participants aged 18 years and older. The study population excluded nonresidents of the Jazan region, individuals below 18, and those who declined to participate. Nonrandomized convenience sampling was used to recruit participants from the Jazan Province, targeting the general population. Results: One thousand one hundred twenty-six participants completed the survey, resulting in a response rate of 93%. Most participants (50.4%) had average microbiota knowledge, 14.7% demonstrated good understanding, and 34.9% had poor knowledge. Regarding probiotics, the findings indicated that 76.4% of participants exhibited insufficient knowledge, 21.1% had average knowledge, and 2.5% displayed good knowledge. Most participants (65.7%) held a neutral attitude toward antibiotics and probiotics. Conclusion: This study highlights a significant gap in understanding probiotics among the general population in the Jazan Region. Comprehensive education and awareness campaigns are urgently needed to promote a better understanding of microbiota composition, its significance for health, and the potential benefits of probiotics. Effective public health initiatives should be developed to provide accurate and up-to-date probiotic information, fostering positive health outcomes. [J Adv Vet Anim Res 2023; 10(4.000): 773-781]

Bipolar cardiac electrograms were obtained in dogs from ischemic areas following temporary coronary artery ligation. Characteristic alterations from the controls were observed, including increase in dura tion, decrease in amplitude and alterations in configuration. These changes were found to be completely reversible upon restoration of coronary flow. The bipolar electrogram has been recommended for the delineation of areas of permanent myocardial damage from normal tissue during cardiac surgery. Interpretation of such bipolar elcctrograms as ind icating permanent myocardial damage must be approached with appropriate caution.

Background Contact lenses (CL) are frequently used among the population. Various symptoms, including dryness, impaired vision, foreign body sensation, and eye strain, were reported by patients with contact lens-associated dry eye (CLADE) disease. The purpose of this study is to estimate the prevalence and severity of dry eye symptoms among contact lens users, as well as non-contact lens users, and the related variables. Methods This descriptive cross-sectional study was conducted among contact lens users, as well as non-contact lens users. The questionnaire was adopted from the literature and translated into Arabic. General and demographic data were collected, and questions about hygiene behaviors, the Contact Lens Dry Eye Questionnaire-8 (CLDEQ-8), and the Ocular Surface Disease Index (OSDI) were answered. IBM SPSS version 27.0.1 (IBM Corp., Armonk, NY) was used for data analysis. Results This study involved 367 participants, predominantly women (318, 86.6%) with an average age of 31.0 years. One hundred eighty-one (49.3%) used contact lenses, primarily on a monthly basis. One hundred forty-six (80.7%) of contact lens users reported good hygiene practices. Dry eye symptoms varied in severity, with 139 (37.6%) of the participants experiencing severe dry eye, while many reported symptoms as infrequent or mild. Statistical analysis revealed no significant association between contact lens use and dry eye severity (p = 0.416), but 99 (54.7%) of the participants reported contact lens-associated dry eye (CLADE). Sociodemographic factors showed no significant correlation with contact lens discomfort (CLD) prevalence; however, poor hygiene practices were significantly associated with higher CLD rates (100% versus 52.1%, p = 0.014). Conclusion The study found that dry eye symptoms were prevalent among all participants (139, 37.6%) but not necessarily linked to contact lens use. The data indicate that, while many users maintain proper hygiene, a significant number nevertheless have varied degrees of dry eye symptoms, necessitating more inquiry into the mechanisms leading to these concerns. A future study using clinical diagnosis with a tear film breakage test is recommended as a more reliable technique for diagnosing dry eye syndrome (DES)., Competing Interests: Human subjects: Consent for treatment and open access publication was obtained or waived by all participants in this study. The Scientific Research Ethics Committee (REC) of Jazan University in Saudi Arabia issued approval REC-45/11/1138. The Scientific Research Ethics Committee (REC) of Jazan University in Saudi Arabia authorized this study under the reference number REC-45/11/1138 (date: 06/06/2024). Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Abusageah et al.)

Introduction: It has long been understood that sleep is a necessary therapeutic element of human physiology and is crucial for healthy functioning, mental health, and quality of life. Medical students frequently minimize their sleep and habits to cope with their workload and their stressful lives, which has a negative influence on both mental health and academic performance. The purpose of this study was to evaluate the prevalence of stress and its effect on sleep quality among medical students (in both the preclinical and clinical years) at Jazan University in Saudi Arabia., Materials and Methods: A cross-sectional research design was applied in this study. The sample constituted medical students at Jazan University, Jazan region, Saudi Arabia. A self-administered online survey was distributed actively to measure the variables of interest., Results: This study examined the sleep quality and psychological distress among 347 students. The findings revealed that a significant proportion of students experienced sleep difficulties, with 52.8% reporting mild sleep problems and 46.6% reporting moderate sleep difficulties. In addition, a notable percentage of participants (28.2%) reported very high psychological distress, while 27.4% experienced severe psychological distress., Conclusions: This study found that medical students had a high level of stress and poor sleep quality, which led to unhealthy habits, such as consuming many energy drinks. Hence, it is recommended that concerns should be addressed to minimize the risk of developing chronic illnesses., (Copyright © 2024 Copyright: © 2024 Annals of African Medicine.)

Maturity onset diabetes of the young (MODY) is a rare, monogenic autosomal dominant form of diabetes that is characterized by early-onset, non-insulin-dependent hyperglycemia, strong family history, and is often misdiagnosed as type 1 or type 2 diabetes. Co-inheritance of multiple MODY genes, however, is rare. We describe here a case of MODY involving co-inherited rare variants in the ABCC8 and B-lymphocyte kinase (BLK) genes. A 55-year-old non-obese man with a past medical history of dyslipidemia and premature ischemic heart disease was initially misdiagnosed with type 2 diabetes for more than 18 years. He is a smoker with a strong family history of diabetes affecting both of his parents and most of his siblings. Despite treatment with different oral antihyperglycemics, his diabetes remained uncontrolled with glycated hemoglobin (HBA1c) between 8 and 10% until the addition of gliclazide, which improved his HBA1c to 5.7%. Based on all the previous information, MODY was suspected, and genetic testing was done, which showed rare variants in the BLK and ABCC8 genes and suggested a co-occurrence of MODY11 and MODY12. This case highlights the importance of accurate genetic testing, which is crucial for proper MODY subtyping, enabling tailored treatment strategies and potentially improving patient outcomes. Moreover, the consistent presence of the BLK gene variant in limited cases of co-inheritance raises questions about its causative role in MODY, suggesting a need for further investigation into its clinical significance., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Alwithenani et al.)

Background and Objectives : Hydroxyurea is a crucial treatment for sickle cell disease (SCD), but some patients' adherence to it remains suboptimal. Understanding patients' perspectives on SCD and HU is essential for improving adherence. This study aimed to assess hydroxyurea adherence and patients' perceptions of SCD and hydroxyurea among SCD patients in the Jazan region of Saudi Arabia. Materials and Methods : This cross-sectional study collected data from 217 SCD patients using self-administered questionnaires from August 2022 to January 2023. The survey covered patient demographics, SCD consequences, and other clinical data. We used the Brief Illness Perception Questionnaire (B-IPQ) to measure patients' disease perception and the 8-item Morisky Medication Adherence Scale (MMAS-8) to evaluate patients' adherence to HU. Data were analysed using descriptive, t -test, and chi-square tests, and the p -value was set at <0.05 for significance. Results : More than half of the patients were male, with a mean age of 28.09 ± 8.40 years. About 57.6% of the patients were currently using HU. About 81.6% of HU users reported low adherence. The adherence was lower among individuals with infections/recurrent infections and in patients who received repeated blood transfusions. ICU admission, blood transfusion, and certain SCD complications were associated with HU use. Male patients had a higher perception of SCD consequences, concern, and understanding. ICU-admitted and recurrent hospitalized patients had a higher perception of the SCD-related consequences, symptoms, concerns, and emotional responses. Conclusions : HU seems a well-established and efficacious disease-modifying agent, but its underutilization for SCD patients remains challenging. To overcome the adherence challenges, healthcare providers must educate SCD patients about the role of hydroxyurea in lowering disease severity and addressing side effects to obtain maximum benefits. Healthcare providers may consider tailored educational interventions to improve adherence, particularly for patients with infections, recurrent hospitalizations, or repeated blood transfusions. Further research is needed to identify strategies for improving hydroxyurea adherence and patient education among SCD patients.

Background: The Human Immunodeficiency Virus (HIV) and the social stigma directed toward patients with HIV are serious public health issues. We aimed to evaluate the HIV knowledge base and stigmatizing attitudes toward patients with HIV among students enrolled in medical schools in Saudi Arabia., Methods: This cross-sectional study included students at medical colleges in Saudi Arabia and was conducted between February and March 2023. We used non-random convenience sampling with an online chain referral via a validated Arabic questionnaire composed of 35 questions. Data were analyzed using descriptive and comparative statistics., Results: A total of 1,213 medical students (women: 56.6%) participated in the study. Students in clinical years had a higher level of HIV knowledge than their pre-clinical colleagues. Logistic regression analysis revealed that participants who gave incorrect answers to questions related to mother-to-child and casual contact HIV transmission had a higher likelihood of harboring a negative attitude towards patients with HIV. Conversely, those who correctly answered queries on prevention and treatment were less likely to have stigmatizing attitudes. A significant proportion of this cohort harbored negative attitudes toward patients with HIV, with the sex and geographic location of participants being significant predictors of negative attitudes., Conclusion: Our data have revealed a significant percentage of medical students in Saudi Arabia to have misconceptions about HIV transmission and prevention, and stigmatizing attitudes toward patients with HIV, indicating a need for targeted interventions to enhance the HIV knowledge base in this population of future caregivers., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

The purpose of this research was to evaluate how much the people in the Jazan region know about the care and healing of surgical wounds. Proper care of surgical wounds is very important to achieve the best treatment outcomes and to avoid negative consequences. However, factors like obesity, diabetes, and certain medications can impair wound healing, with surgical site infections being a major problem in the healthcare system. Therefore, this study aimed to determine public awareness and perceptions of surgical wound care to help improve education and raise awareness of the importance of proper wound care for better results. We run an observational cross-sectional study among adults above 18 years in the Jazan region. An online self-administered questionnaire was used in the collection of data. Simple random sampling was the used technique and 384 participants were calculated. The study used Statistical Package for the Social Sciences (SPSS) for data analysis and employed descriptive statistics, independent t test, Analysis of Variance (ANOVA), Pearson's correlation, and multivariate logistic regression to identify factors associated with knowledge of surgical site infection and wound care. This study analyzed 599 participants' knowledge, attitude, and practice about surgical site infection and wound management. While participants had a strong general understanding of surgical wounds, only 17% had a high degree of knowledge about surgical site infection and wound management. Medical students had the highest degree of knowledge, and being a medical student was the only significant predictor of having a high level of knowledge about surgical site infection (SSI) and wound care. The study emphasizes the necessity of enhanced patient education and investment in medical education quality. The participants in this study had high overall knowledge regarding surgical wounds but lacked particular knowledge concerning surgical site infection and wound management. Medical education was discovered to be a strong predictor of having a high level of knowledge about surgical site infection and wound management. Healthcare professionals should take the lead in giving accurate and reliable information regarding wound care techniques to patients, and legislators should invest in enhancing medical education quality., Competing Interests: The authors have no funding and conflicts of interest to disclose., (Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.)

Background: Human iPSCs' derivation and use in clinical studies are transforming medicine. Yet, there is a high cost and long waiting time associated with autologous iPS-based cellular therapy, and the genetic engineering of hypo-immunogenic iPS cell lines is hampered with numerous hurdles. Therefore, it is increasingly interesting to create cell stocks based on HLA haplotype distribution in a given population. This study aimed to assess the potential of HLA-based iPS banking for the Saudi population., Methods: In this study, we interrogated the HLA database of the Saudi Stem Cell Donor Registry (SSCDR), containing high-resolution HLA genotype data from 64,315 registered Saudi donors at the time of analysis. This database was considered to be a representative sample of the Saudi population. The most frequent HLA haplotypes in the Saudi population were determined, and an in-house developed iterative algorithm was used to identify their HLA matching percentages in the SSCDR database and cumulative coverage. Subsequently, to develop a clinically relevant protocol for iPSCs generation, and to illustrate the applicability of the concept of HLA-based banking for cell therapy purposes, the first HLA-based iPS cell line in Saudi Arabia was generated. Clinically relevant methods were employed to generate the two iPS clones from a homozygous donor for the most prevalent HLA haplotype in the Saudi population. The generated lines were then assessed for pluripotency markers, and their ability to differentiate into all three germ layers, beating cardiomyocytes, and neural progenitors was examined. Additionally, the genetic stability of the HLA-iPS cell lines was verified by comparing the mutational burden in the clones and the original blood sample, using whole-genome sequencing. The standards set by the American College of Medical Genetics and Genomics (ACMG) were used to determine the clinical significance of identified variants., Results: The analysis revealed that the establishment of only 13 iPSC lines would match 30% of the Saudi population, 39 lines would attain 50% coverage, and 596 lines would be necessary for over 90% coverage. The proof-of-concept HLA-iPSCs, which cover 6.1% of the Saudi population, successfully demonstrated pluripotency and the ability to differentiate into various cell types including beating cardiomyocytes and neuronal progenitors. The comprehensive genetic analysis corroborated that all identified variants in the derived iPSCs were inherently present in the original donor sample and were classified as benign according to the standards set by the ACMG., Conclusions: Our study sets a road map for introducing iPS-based cell therapy in the Kingdom of Saudi Arabia. It underscores the pragmatic approach of HLA-based iPSC banking which circumvents the limitations of autologous iPS-based cellular therapies. The successful generation and validation of iPSC lines based on the most prevalent HLA haplotype in the Saudi population signify a promising step toward broadening the accessibility and applicability of stem cell therapies and regenerative medicine in Saudi Arabia., (© 2023. The Author(s).)

Sickle cell disease (SCD) is a genetic blood disorder that affects hemoglobin and increases stroke risk, particularly in childhood. This review examines the pathophysiological association between SCD and stroke, the classification of stroke types, risk factors, diagnosis, management, prevention, and prognosis. A comprehensive literature search was conducted via PubMed, Scopus, and Cochrane databases. Relevant studies on SCD and stroke pathophysiology, classification, epidemiology, diagnosis, treatment, and prevention were identified. Sickle cell disease causes red blood cells to become rigid and sickle-shaped, obstructing blood vessels. Recurrent sickling alters cerebral blood flow and damages vessel walls, often leading to ischemic or hemorrhagic strokes (HS). These occur most frequently in childhood, with ischemic strokes (IS) being more common. Key risk factors include a prior transient ischemic attack (TIA), low hemoglobin, and a high leukocyte count. Neuroimaging is essential for diagnosis and determining stroke type. Primary prevention centers on blood transfusions and hydroxyurea for those at high risk. Acute treatment involves promptly restoring blood flow and managing complications. However, significant knowledge gaps remain regarding stroke mechanisms, optimizing screening protocols, and improving long-term outcomes. This review synthesizes current evidence on SCD and stroke to highlight opportunities for further research and standardizing care protocols across institutions. Ultimately, a holistic perspective is critical for mitigating the high risk of debilitating strokes in this vulnerable patient population., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Hakami et al.)

Background: Lung cancer (LC) is the most common cause of cancer-related deaths worldwide. With lung cancer often diagnosed at advanced stages, understanding the local population's awareness levels is crucial for designing effective preventive strategies. By identifying gaps in knowledge, the research aims to inform targeted health education efforts, optimize resource allocation, influence policy development, and contribute to the limited body of research on lung cancer awareness in the region, ultimately fostering improved public health outcomes., Methods: This was a cross-sectional observational study conducted in Jazan region, Saudi Arabia, from July 2022 to June 2023, 671 participants over 18 years old, encompassing both genders, were gsurveyed. Data was collected through a questionnaire covering sociodemographic characteristics and LC-related awareness. SPSS 23 was used for analysis. Factors associated with knowledge scores were explored using independent t -tests and ANOVA, with the Tukey post-hoc test identifying specific group differences., Results: The study included 671 participants, most participants were between 18 and 35 years (73.5%), with 38.5% males and 61.5% females. Lung cancer (LC) awareness was high (95.1%), with 4.9% reporting a family history. Knowledge assessment revealed a mean score of 14.66, with 41.6% having low, 49.5% moderate, and 8.9% high knowledge levels. Correct responses were notable for recognizing LC as a common cancer, a leading cause of death, and associating smoking and shisha with risk. Symptoms were well identified. Screening awareness was at 63.5%, with 78.8% willing to undergo tests if at risk. Age, marital status, and occupation were associated with knowledge, while factors like gender, nationality, residency, education, income, and smoking status showed no significant associations., Conclusion: The findings indicate that there are knowledge gaps related to LC and its screening in Jazan region in Saudi Arabia. Effective awareness programs targeting specific sociodemographic groups are needed to improve the early detection and outcomes., Competing Interests: The authors report no conflicts of interest in this work., (© 2023 Madkhali et al.)

Background Headache disorders, particularly migraines, significantly impact public health globally. The Global Burden of Disease (GBD) report highlights migraines as the second leading cause of disability worldwide, especially among women under 50. Hormonal changes, particularly estrogen, play a role in primary headaches like migraines, and this connection becomes important during pregnancy due to physiological changes.  Materials and methods A cross-sectional survey was conducted among pregnant women in Saudi Arabia to assess the characteristics of the headaches and explore their influencing factors. The study initiated the data collection process across various regions of Saudi Arabia from February 2023 to July 2023. Participants included pregnant women aged 18 or above residing in Saudi Arabia. Data were collected through an online self-administered survey with multiple-choice questions. Descriptive analysis and Pearson Chi-Square tests were performed using IBM SPSS Statistics version 25 (IBM Corp., Armonk, USA). Results A study surveyed 411 pregnant women to investigate the characteristics of headaches during pregnancy. The majority of participants were Saudi nationals 381 (92.7%) and 242 (58.9%) aged 18-30 and 357 (86.9%) resided in urban areas. Around 72 (17.5%) reported having chronic diseases. Results showed that 246 (59.9%) of pregnant women were diagnosed with headaches before pregnancy, with migraines being the most common type by 145 (35.3%). Headache frequency increased during pregnancy for 171 (41.6%) of participants, and the majority 275 (66.9%) experienced headaches lasting 0-3 hours. Nausea 219 (53.3%) and holo-cranial pain 112 (27.3%) were common accompanying symptoms. Conclusion This study provides valuable insights into the burden of headaches among pregnant women in Saudi Arabia, emphasizing the importance of improved healthcare practices and educational initiatives to effectively address this issue., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Alharthi et al.)

Background: First aid during a seizure is critical, but many people in Jazan, Saudi Arabia may not know what to do. This is because epilepsy is often stigmatized in the region and regarded as a spiritual or mental disorder. This study investigated the awareness of seizure first aid among the population living in Jazan., Methods: An online survey was conducted. Healthcare workers and people who had never heard of epilepsy were excluded. Participants were asked to identify correct measures of seizure first aid from a list of 20 statements [9 correct and 11 incorrect]. A composite awareness score was calculated by subtracting the number of incorrect statements from the number of correct statements. Participants were classified into three groups: high, intermediate, and low awareness. Logistic regression was used to identify factors associated with high awareness., Results: Of the 1215 participants, 80.5 % had low awareness of seizure first aid. The most common correct responses were clearing the area of dangerous objects (91.3 %), putting a pillow under the neck (69.3 %), and timing the seizure (68.5 %). However, only 32.2 % knew to tell the person what happened after the seizure. The most common misconception was that an ambulance should be called immediately, regardless of the details (88.3 %). Other common misconceptions included putting something in the person's mouth (87.5 %), holding them down (83.0 %), taking out their contact lenses (79.9 %), and giving antiseizure medications orally (73.2 %). People who previously watched an educational video on seizure first aid (OR = 4.27, 95 % CI = 1.48-12.34, p = .007) or who knew someone with epilepsy (OR = 9.01, 95 % CI = 2.82-28.83, p < .001) were more likely to have a high awareness of seizure first aid., Conclusion: The study found that most people in Jazan, Saudi Arabia do not know how to provide first aid for seizures. The findings inform future research and highlight the need for increased education and training on seizure first aid in this region., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2023 The Author(s).)

Introduction Headache is a considerable factor in decreased productivity and work efficiency. This study aims to measure the characteristics of headaches and the risk factors among healthcare providers in Al-Ahsa, Saudi Arabia. Methods This cross-sectional study included 353 healthcare providers from Al-Alhsa, Saudi Arabia. An online questionnaire was conducted to assess the demographic and occupational characteristics, headaches, numerous factors such as smoking, caffeine intake, physical activity, and medical conditions to determine their associations with headaches, as well as the impact of headaches on productivity. Results Among participants who reported headaches, 15.6% and 4.5% had been previously diagnosed with tension headaches and migraines, respectively. The mean duration of headaches was 7.09±18.16 hours; 38.5% of headaches were throbbing in nature, while 61.5% were pressing. The headache was on one side in 51.6% and accompanied by nausea and vomiting in 41.1% and 24.1%, respectively. Moreover, 53% and 41.9% experienced worsening of headaches by exercise and light, respectively. Tension headaches occurred more in older healthcare providers (P <0.05) and those who reported working night shifts (P=0.002). Healthcare providers with tension headaches reported having an intrusive leader and violence at work (P=0.038 and P=0.013, respectively). Caffeine consumption, emotional stress, and using oral contraceptive pills (OCP) were significantly correlated with migraine (P=0.023, P=0.017, and P=0.004, respectively). The reported headache affected the productivity of 62.59% of individuals. Conclusions Headache is common among healthcare providers in Al-Ahsa, Saudi Arabia. The study indicates that tension headache is associated with aging, night shifts, having an intrusive leader, and violence at work. In contrast, migraine is correlated with caffeine consumption, emotional stress, and OCP use. The productivity of healthcare providers is affected negatively by headaches., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Alturaiki et al.)

Background: Alzheimer's disease (AD) is a growing public health concern, yet misconceptions about the condition are common. This study assessed awareness and social perceptions of AD in Jazan., Methods: A cross-sectional survey of 925 adults was conducted. Knowledge was assessed using a 30-item Alzheimer's Disease Knowledge Scale (ADKS). Social perceptions were evaluated using a 10-item questionnaire., Results: Many had misconceptions about AD epidemiology, causes, management, and care. The mean ADKS score was 8.89 ± 5.17 out of 30. Knowledge was poorest for symptoms, risk factors, treatment, caregiving, and life impact. Knowledge was highest in those aged >45 years (p = 0.018), in those with income > 15K SR (p = 0.004), in retired individuals (p = 0.023), and in those who learned about AD from books (p = 0.001), healthcare professionals (p = 0.001), or had an affected relative (p = 0.001). However, knowledge was low across all domains, averaging only 29% correct answers. Most respondents held positive social perceptions, yet sizable minorities saw isolation, legal intervention, and institutionalization as appropriate. Additionally, a portion of respondents associated stigma with individuals affected by AD and expressed a sense of burden associated with the condition., Conclusions: There are substantial knowledge gaps and some stigmatizing attitudes about AD in Jazan. Awareness regarding the causes, diagnosis, and management of AD was low. Misconceptions exist that AD only affects older people. Improved public education, especially for higher-risk groups, is needed to address misconceptions and promote social inclusion for those with dementia. Healthcare professionals can play a crucial role., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Hakami et al.)

Background: Adolescents frequently self-report pain, according to epidemiological research. The knee is one of the sites wherein pain is most commonly reported. Musculoskeletal disorders play a significant role in the prolonged disability experienced by individuals, leading to substantial global personal, societal, and economic burdens. Patellofemoral pain (PFP) is a clinical knee pain commonly affecting adolescents. This study aimed to estimate the frequency of knee pain in Saudi adolescents., Methods: This cross-sectional survey was conducted from June to November 2022 and included 676 adolescents aged 10 to 18 years. The participants were questioned regarding their demographics, school habits, and the impact of these factors on back pain, musculoskeletal pain in the past 12 months, as well as quality-of-life scale and knee pain symptoms. The data were analyzed using descriptive statistics, with frequencies and percentages presented for categorical variables. Analysis of variance (ANOVA) was performed to compare means between groups, while the chi-squared test was used to compare categorical variables. Statistical significance was set at p < 0.05., Results: A total of 676 adolescents participated in the study, with 57.5% females and 42.5% males. Among the participants, 68.8% were aged between 15 and 18 years. The prevalence of knee pain was notably higher among females (26%) compared to males (19.2%). Age and BMI were identified as significant predictors of knee pain. A significant association was also found between BMI classification and knee stiffness ( p -value = 0.008). Furthermore, a significant difference was observed between adolescents who engaged in physical activities during leisure time and those who experienced difficulty bending ( p -value = 0.03)., Conclusions: Our study highlights a high prevalence of knee pain among Saudi adolescents, emphasizing the need for increased awareness about its risk factors. Preventive measures, including conservative approaches and lifestyle/activity modifications, can effectively mitigate adolescent knee pain.

Background: Particularly in Saudi Arabia, there is a dearth of trained specialists in the field of surgery. Understanding the obstacles that discourage medical students and residents from pursuing a surgical career is essential for resolving this shortage. This study intended to investigate the characteristics that influence medical students and trainees at Jazan University, Saudi Arabia, to pursue a career in surgery., Methodology: This observational study employed a descriptive, cross-sectional approach. The intended audience consisted of fourth- to sixth-year medical students and medical residents. The questionnaire gathered information on demographics, academic year, previous surgical experience, perceptions of surgery as a specialty, and variables influencing career selections., Results: Out of 413 participants, 74.3% were considering a surgical career, with 24.4% interested in general surgery, followed by cardiac surgery (14.3%) and pediatric surgery (12.4%). Factors influencing career decisions included potential income (82%), the possibility of part-time work (82%), and partial leave (74%). A significant proportion of participants agreed or strongly agreed that the incidence of suicide (62%) and the risk of depression (72%) are higher in surgical specialties. Female participants were more likely to agree that their chance of becoming a spouse could be affected by a surgical career (p=0.002) and that meeting role models could influence their choice of surgical specialty (p=0.015)., Conclusion: Work-life balance, long working hours, and mental health concerns are identified as variables that discourage medical students and residents from pursuing a surgical career in the study. Efforts to encourage work-life balance, minimize workload, and provide support and resources for mental health issues should help surgeons suffer less stress and burnout. Moreover, encouraging an open-minded attitude and de-stigmatizing mental health concerns in the medical field should encourage individuals to seek assistance when necessary and lower the incidence of suicide and depression. Finally, tackling gender discrimination and encouraging diversity and inclusion in surgical specialties could attract more skilled surgeons., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Hakami et al.)

Introduction: Pregnancy has been associated with restless legs syndrome (RLS). RLS is underdiagnosed in most countries. The purpose of this study was to assess the prevalence of RLS among Saudi pregnant women., Methods: This cross-sectional study included 459 pregnant women from all Saudi provinces between December 2022 and March 2023. A structured online questionnaire assessing demographic and pregnancy characteristics, medical conditions, sleep quality, and RLS symptoms was conducted., Results: The prevalence of RLS was 26.6% among the participants. Calcium deficiency was significantly associated with RLS (adjusted odds ratio (OR)=2.16, 95% confidence interval (CI)=1.2-3.9, p=0.01), but there was no significant association between RLS and vitamin D and iron deficiencies (p>0.05), according to multivariate binary logistic regression analysis. Moreover, RLS increased the risk of insomnia and frequent waking up (adjusted OR=4.95, 95% CI=2.50-9.83, p<0.001, and adjusted OR=2.87, 95% CI=1.55-5.32, p=0.001, respectively)., Conclusion: RLS is common among pregnant women in Saudi Arabia. The study indicates that RLS during pregnancy is linked to calcium deficiency and negatively affects sleep quality., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Alnaaim et al.)

Objectives The most frequent otolaryngological complaint is nasal obstruction. We aimed to determine if there is a relationship between nasal blockage and academic performance among medical college students in Saudi Arabia. Methods This cross-sectional survey carried out from August to December 2022, included 860 medical students determining the risk of obstructive sleep apnea (OSA) on the participants using the Berlin Sleep Questionnaire Risk Probability, then comparing it to their socio-demographic characteristics, while the Chi-square test was used for the comparison of categorical variables. Result The average age of the participants in our study was 21.52 years; 60% were females and 40% were males. The risk of obstructive sleep apnea was found to be two times higher in females than in males (95% CI: 1.195- 3.345; p-value 0.008). The hypertensive participants had a 27-fold increased risk of OSA compared to non-hypertensives. Grade Point Average (GPA) and snoring had a statistically significant relationship, however, a fifth of the participants reported snoring (79.8% reported not snoring). We also found that 14.8% of the participants with snoring had a GPA between 2-4.49 compared to 44.6% of participants without snoring. Conclusion Female students had a two-fold higher chance of developing OSA than males. While a GPA of 4.5 and above was more often associated with participants without snoring, the number of individuals with a GPA of 2-4.49 was greater among participants with snoring. To aid in the prevention of illness complications and the management of risk factors, additional efforts should be made to increase disease knowledge among students, primary healthcare practitioners, and specialty doctors., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Alshehri et al.)

Background and objectives : Most individuals with irritable bowel syndrome (IBS) are diagnosed by primary health care (PHC) physicians. However, a significant percentage of patients remain undiagnosed or misdiagnosed owing to the lack of knowledge or a systematic strategy regarding the use of ROME IV criteria for the diagnosis of IBS. Thus, in this study, we aimed to assess the knowledge, attitude, and practices among primary health care physicians in Jazan Province, Saudi Arabia, regarding ROME IV criteria for the diagnosis of IBS. Methods : A cross-sectional study was conducted using a pretested self-administered questionnaire that determines participants' sociodemographic data and measures knowledge about ROME IV criteria, targeting PHC physicians in Jazan Province, Saudi Arabia. Data were analyzed using the Statistical Package for Social Sciences (SPSS) v.23. Results : We included 200 participants, and the majority of participants in our study (approximately 78%) were aware of the ROME IV diagnostic criteria for IBS; this awareness was associated with age, nationality, specialty, and classification. The participants' mean level of knowledge was 4.30 (out of 6). However, knowledge was higher among Saudi and family medicine doctors in this study, as compared to non-Saudi and doctors of other specialties. More than two-thirds of participants who were aware of ROME IV criteria thought that they are sufficient to diagnose IBS; however, only 47.5% of physicians reported using ROME IV frequently in their daily practice. Conclusions : Most of the participants of this study are aware of ROME IV criteria, and better knowledge was noted among Saudi and family medicine physicians. About 70% thought that ROME IV criteria are effective enough to diagnose IBS, and only about half of the participants use ROME IV criteria in their practice. Therefore, due to its high prevalence in the region, further efforts are required to disseminate basic knowledge and improve attitudes and practices related to ROME IV criteria among PHC physicians of all specialties.

Background: COVID-19 patients with DM have increased mortality and severity of the disease. Although telemedicine helps to minimize the impact of COVID-19 on the DM standard of care, it is increasingly evident that COVID-19 has a significant impact on DM standards of care, especially in areas where telemedicine is not available., Objective: The study aimed to assess the impact of COVID-19 on patients with diabetes standard of care in the Jazan region, Saudi Arabia., Methods: A cross-sectional study using an online pretested questionnaire targeted adult diabetic patients living in the Jazan region between December 2021 to March 2022. The participants were selected through a random sampling method. They completed self-administered questionnaires that included demographic variables., Results: A total of 258 study subjects participated in this study. In comparison to DM standards of care before and during COVID-19, there was no clinically significant difference in medication compliance, blood glucose checking, or experiencing blood glucose extrusion. However, with the spread of the corona pandemic and the closure of clinics, the percentage of those who have difficulty controlling blood sugar levels has increased to 22%, despite the availability of telemedicine., Conclusion: DM standards of care have not been affected and were not statistically significant, which could be explained by the rapid adoption of telemedicine during the lockdown. However, as corona spread participants had difficulty controlling blood sugar levels. This indicates that governmental multidisciplinary work limits the COVID-19 impact; however, further work is still needed to ensure that DM care is not compromised., Competing Interests: None declared., (© 2022 Omar Oraibi, Afnan Alamer, Basem Zogel, Faisal Hakami, Khalid Hakami, Wala Gadi, Wejdan Shawlan, Mariam Tawhari, Ghadeer Qumayri, Hafiz Al-Musawa, Bashaer Khormi, Mohammed Somaili, Abdulaziz Alhazmi.)

Introduction: The alarming infection rates of COVID-19 and variability in disease severity and outcome created the need for a prognostic marker to predict disease severity, prioritize services, and assist in clinical decision-making. The cycle threshold (Ct) value was hypothesized to be inversely correlated with viral load and subsequently disease severity. Therefore, it gained clinical interest and was an important topic for research. In this study, we aimed to determine the accuracy of the Ct value as a predictor of clinical severity in children presenting to the emergency department with COVID-19. Specifically, we aimed to compare the relationship between clinical severity among patients with high vs. low Ct values as well as to assess the correlation between the mean Ct value with the mean number of symptoms., Methods: This is a single-center retrospective cohort study. Data were obtained from the electronic medical record software of King Abdulaziz Medical City in Jeddah, Saudi Arabia. The present study included randomly selected COVID-19 cases aged ≥1 months to 18 years who presented to the emergency department between March 2020 and May 2021. Collected clinical data were matched with laboratory data at the time of diagnosis to examine the association between Ct values and clinical factors., Results: A total of 191 COVID-19 PCR-positive children were included with an overall mean Ct value of 11.5, a median of 10, and a highest Ct value of 25. The mean age of the patients was 95 months. More than half (51.35%) of the patients were admitted to the hospital, while 2.09% were admitted to the intensive care unit and one patient (0.52%) died. There was no significant association between Ct values and demographics or clinical characteristics of the patients., Conclusion: We demonstrated a lack of association between SARS-CoV-2 Ct value detected in nasopharyngeal swabs with disease severity, number of symptoms, oxygen requirement, intensive care unit admission, or length of hospital stay in the pediatric population presenting to the emergency department with COVID-19. This finding does not support the routine reporting of Ct values to aid clinicians in making clinical and patient-management decisions for COVID-19 patients or guide infection control or public health decisions. Further studies confirming our observations are needed., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Al-Shareef et al.)

Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular genetic diagnostics with variable diagnostic yields. In this study, we aimed to determine the diagnostic yield of trio-ES in detecting the cause of fetal abnormalities within a highly consanguineous population. In families with a history of congenital anomalies, a total of 119 fetuses with structural anomalies were recruited and DNA from invasive samples were used together with parental DNA samples for trio-ES and CMA. Data were analysed to determine possible underlying genetic disorders associated with observed fetal phenotypes. The cohort had a known consanguinity of 81%. Trio-ES led to diagnostic molecular genetic findings in 59 fetuses (with pathogenic/likely pathogenic variants) most with multisystem or renal abnormalities. CMA detected chromosomal abnormalities compatible with the fetal phenotype in another 7 cases. Monogenic ciliopathy disorders with an autosomal recessive inheritance were the predominant cause of multisystem fetal anomalies (24/59 cases, 40.7%) with loss of function variants representing the vast majority of molecular genetic abnormalities. Heterozygous de novo pathogenic variants were found in four fetuses. A total of 23 novel variants predicted to be associated with the phenotype were detected. Prenatal trio-ES and CMA detected likely causative molecular genetic defects in a total of 55% of families with fetal anomalies confirming the diagnostic utility of trio-ES and CMA as first-line genetic test in the prenatal diagnosis of multisystem fetal anomalies including ciliopathy syndromes., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Rhizomelic chondrodysplasia punctata (RCDP) is a devastating medical condition for patients and their families. It is a rare peroxisomal autosomal recessive disorder. It was recognized clinically with skeletal abnormalities and intellectual disabilities mainly due to plasmalogen deficiency. Here, we report a case of a 16-day-old girl who was referred to King Abdulaziz Medical City Jeddah, Saudi Arabia because of dysmorphic features. Her growth parameters were below the 3rd centile with short proximal long bones and multiple joint contractures in the extremities. The radiographs showed rhizomelic and shortening of both humeri and femurs. Moreover, punctate ossification was identified in the upper spine, humeri around the shoulders, and femurs around the knees. We observed other classical features, and the genetic testing confirmed the diagnosis of RCDP type 3. Although RCDP is a rare condition, it is a distressing burden necessitating early diagnosis and a holistic approach for management., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2021, Shawli et al.)

Background: Saudi Arabia is one of the countries that initiated early vaccination programs despite the global challenges concerning the availability of COVID-19 vaccines. Massive vaccination campaigns have been undertaken in the country; however, negative perception and hesitancy toward vaccines may exist which could reduce public response to vaccination. Further, studies evaluating the current perception and attitude toward COVID-19 vaccines are scarce. Thus, this study aims to assess the community attitudes and perceptions toward COVID-19 vaccines in Jazan Province, Saudi Arabia., Methods: A cross-sectional, retrospective study using an online questionnaire was conducted among the public in Jazan, the southern region of Saudi Arabia. General and demographic data were collected, and perception and attitude toward COVID-19 vaccines were evaluated., Results: Most participants in this study were female (67%) with a median age of 23 years. The majority held a bachelor's degree, and they trusted the Saudi healthcare system. Our survey showed that 67% of the study participants had positive perceptions toward COVID-19 vaccines, a finding that is significantly associated with receiving the influenza vaccine in the past, the existence of trust on the current healthcare system and holding positive beliefs toward the effectiveness of the current COVID-19 vaccines in reducing the risk of infection, complication, and mortality., Conclusions: The proportion of the public in Jazan who believed in the COVID-19 vaccine effectiveness is not inferior from similar international reports. Thus, national awareness programs toward the effectiveness of the vaccine could be enhanced to accelerate vaccination coverage. Further, nationwide surveys are warranted to include larger populations from different communities to assess the overall perception toward COVID-19 vaccines in the whole country.

Objective: To evaluate the ability of dentists and dental students to detect caries by using the International Caries Detection and Assessment System (ICDAS)., Materials and Methods: A cross-sectional study was conducted in Riyadh city and in the College of Dentistry at King Saud University (KSU) in Saudi Arabia. The study sample included a cluster sampling of 50 private clinics (100 dentists) and all 3rd-, 4th-, and 5th-year students (393 students). Data were collected using an electronic questionnaire. The ability score of detecting caries for each group was identified by calculating the mean percentages of the score. The data were entered into SPSS Version 20. One-way ANOVA was used for comparing quantitative data., Results: The overall response rate of the survey was 64.5% (318/493). A total of 62.6% (199) of respondents know about ICDAS. All groups had difficulty assessing the activity of caries in Code 2. There were significant differences among all groups in the ability to detect caries (P-value: 0:00). Moreover, 4th- and 5th-year students had the highest mean of percentage ability score (53.8% and 57.6%, respectively) to detect caries using ICDAS compared to 3rd-year students and general practitioners (38.6% and 38.7%, respectively)., Conclusion: Overall, detection of early dental caries limited to enamel was confusing and difficult. The abilities of dentists and dental students to detect caries using ICDAS were low and require improvement by continuing further clinical training., Competing Interests: The authors declare that there is no conflict of interest regarding the publication of this paper., (© 2021 Al Dhubayb et al.)

Deficiency of adenosine deaminase 2 (DADA2) is a rare recessive disorder caused by the bi-allelic loss-of-function pathogenic variants in the ADA2 gene (MIM: 607575, also known as CECR1 , cat eye syndrome chromosome region, candidate 1). Based on the Human Gene Mutation Database (HGMD ® ), 53 different disease-causing variants have been identified in this gene to date. This case report aims to describe a new vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) case caused by a novel pathogenic variant. A four-year-old boy was referred to our hospital with anemia, thrombocytopenia, and stroke, but no skin manifestations. The patient had a significant phenotypic overlap with VAIHS. Molecular genetic analysis via whole exome sequencing identified a homozygous deleterious variant in ADA2 . To our knowledge, the identified variant has never been described in the literature. Screening for ADA2 pathogenic variants should be considered in the differential diagnosis of pediatric patients manifesting with chronic thrombocytopenia or early-onset stroke for an accurate diagnosis and appropriate treatment choices., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2021, Al-Hebshi et al.)

Leigh syndrome is a progressive neurodegenerative disorder, most commonly observed in paediatric mitochondrial disease, and is often associated with pathogenic variants in complex I structural subunits or assembly factors resulting in isolated respiratory chain complex I deficiency. Clinical heterogeneity has been reported, but key diagnostic findings are developmental regression, elevated lactate and characteristic neuroimaging abnormalities. Here, we describe three affected children from two unrelated families who presented with Leigh syndrome due to homozygous variants (c.346&#95;*7del and c.173A>T p.His58Leu) in NDUFC2, encoding a complex I subunit. Biochemical and functional investigation of subjects' fibroblasts confirmed a severe defect in complex I activity, subunit expression and assembly. Lentiviral transduction of subjects' fibroblasts with wild-type NDUFC2 cDNA increased complex I assembly supporting the association of the identified NDUFC2 variants with mitochondrial pathology. Complexome profiling confirmed a loss of NDUFC2 and defective complex I assembly, revealing aberrant assembly intermediates suggestive of stalled biogenesis of the complex I holoenzyme and indicating a crucial role for NDUFC2 in the assembly of the membrane arm of complex I, particularly the ND2 module., (© 2020 The Authors. Published under the terms of the CC BY 4.0 license.)

Microcephalic osteodysplastic primordial dwarfism syndrome II (MOPDII) is microcephalic primordial dwarfism and is a very rare form of disproportionate short stature. This disorder shares common features with other forms of microcephalic primordial dwarfism, including severe prenatal and postnatal growth retardation with marked microcephaly. However, it includes characteristic skeletal dysplasia, abnormal dentition and increased risk for cerebrovascular diseases. Recent reports added more features, including café-au-lait lesions, cutis marmorata, astigmatism, Moyamoya disease, insulin resistance, obesity, abnormal skin pigmentation and acanthosis nigricans around the neck. Clearly, the more MOPDII reports that are produced, the more information will be added to the spectrum of MOPDII features that can improve our understanding of this disorder. In this paper, we reported a new case of MOPDII with more severe clinical features, earlier onset of common features, in addition to a homozygous novel variant in the PCNT gene., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Systemic primary carnitine deficiency (SPCD) is an autosomal recessive inborn error of fatty acid metabolism caused by a defect in the transporter responsible for moving carnitine across plasma membrane. The clinical features of SPCD vary widely based on the age of onset and organs involved. During infancy, patients might show episodes of hypoketotic hypoglycemia, hepatomegaly, elevated transaminases, and hyperammonemia. Skeletal myopathy, elevated creatine kinase, and cardiomyopathy are the main manifestations in children with SPCD, while in adults, the disorder is usually manifested as cardiomyopathy, arrhythmias, or fatigability. Here, we report a 5-year-old boy with SPCD that presented as dilated cardiomyopathy with atypical features, such as anemia, respiratory distress, and proximal muscle weakness. This report supports considering carnitine deficiency treatment in the work-up of unexplained pediatric dilated cardiomyopathy., Competing Interests: Conflict of interest: the authors declare no potential conflict of interest.

Objectives: Suburethral sling is the gold standard treatment for stress urinary incontinence (SUI). Short-term cure rates are high, but only few studies are available for longer assessment after transobturator tape procedure. The objectives of this study were to assess mid-term functional outcome for Monarc(®) transobturator tape after initial success, and to identify risk factors for recurrence., Material and Methods: We conducted a single centre retrospective study (2004-2013) on consecutive women with SUI who underwent Monarc(®) transobturator tape procedure and were initially cured at the postoperative medical consultation. Pre- and postoperative data (age, weight, height, body mass index, hormonal status, surgical history, associated organ prolapse [Baden and Walker], associated urinary symptoms, postoperative complications [Clavien-Dindo]) were extracted from the electronic medical record. Subjective cure was defined by a score of zero from the ICIQ-SF questionnaire, no second intervention for recurrent SUI and no need for pads at latest news. Statistical analysis was performed using SAS(®) v9.3 (P<0.05)., Results: One hundred and thirty-three consecutive women underwent TOT Monarc(®) procedure, and 125 women were cured in the short-term. Among these women, 103 (82%) were available for mid-term evaluation. Sixty-four women (62%) had pure stress urinary incontinence. The mean follow-up period was 51 months [2-119]. At last follow-up, cure rate was 61%. Seventy-eight percent of women with recurrent urinary incontinence had SUI. Other women had mixed urinary incontinence (3/40), or de novo urgency (6/40). In univariate analysis, we could not identify pejorative prognostic factors for mid-term failure., Conclusion: In our experience, mid-term functional outcome after Monarc(®) transobturator tape procedure seems to deteriorate. After 4 years of follow-up, 61% of the women who were initially cured were still free from any leakage., Level of Evidence: 4., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

Objectives: Noonan spectrum disorders (NSDs) occur in 1:1000-2500 live births. Currently, there are no guidelines for prenatal molecular genetic testing for NSDs. Recent studies recommend prenatal testing for NSDs when ultrasonography detects two or more associated abnormalities. A stronger association between ultrasound findings and NSDs would enable more informed prenatal genetic testing., Methods: A total of 212 newborns (0-12 weeks) with prenatal ultrasound findings and a clinical suspicion of a NSD were referred for molecular genetic testing. Of these, 159/212 newborns tested had a single ultrasound abnormality and 53/212 newborns had two or more. Testing was performed by either a microarray-based resequencing assay or next generation sequencing of RAS/MAPK pathway genes associated with NSDs. Prenatal ultrasound findings in positive and negative cases were compared., Results: A disease-causing variant was identified in 21.7% (46/212) of newborns tested. Of these positive cases, 67.4% (31/46) had only one ultrasound abnormality reported. The rate of detecting a disease-causing variant in cases with one ultrasound finding was 19.5% (31/159), which was not significantly different (p-value = 0.36) than that in cases with two or more ultrasound findings (28.3%; 15/53)., Conclusions: Prenatal molecular testing for NSDs should be considered even in the presence of a single associated abnormal ultrasound finding. © 2016 John Wiley & Sons, Ltd., (© 2016 John Wiley & Sons, Ltd.)

Recent decades have witnessed the publication of numerous studies reporting alterations in the genome and transcriptome of head and neck squamous cell carcinoma (HNSCC). Currently, the utilisation of these alterations as biomarkers and targets for therapy is limited and new, useful molecular characteristics are being sought. Many of the published HNSCC gene expression profiles demonstrate alterations in the expression of HOX genes. These are a family of Homeobox-containing genes which are involved in developmental patterning and morphogenesis in the embryo, and which are often aberrantly expressed in cancer. The 39 HOX genes found in the human genome are arranged in four paralogous groups at different chromosomal loci. These control a wide range of cellular processes, including proliferation and migration, which are relevant in the context of cancer development. In this review article, we will outline the biology of HOX genes in relation to cancer and summarise the accumulating evidence for their role in the development of HNSCC and the possibility that they could be a therapeutic target in this malignancy. We will also identify areas where our current understanding is weak to focus future work and appraise the ongoing strategies for pharmacological intervention., (© 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Background: Previous studies have demonstrated that a number of HOX genes, a family of transcription factors with key roles in early development, are up-regulated in head and neck squamous cell carcinoma (HNSCC) and other cancers. The loci of several Homeobox (HOX) genes also contain microRNAs (miRs), including miR-196a., Methods: Global miR expression and expression of all 39 HOX genes in normal oral keratinocytes (NOKs), oral pre-malignant (OPM) and HNSCC cells was assessed by expression microarray and qPCR and in tissues by immunohistochemistry (IHC) and qPCR of laser microdissected (LCM) tissues. Expression of miR196a and HOXB9 was reduced using anti-miR-196a and siRNA, respectively. Expression microarray profiles of anti-miR196a and pre-miR196a transfected cells were compared to parental cells in order to identify novel targets of miR-196a. Putative miR196a targets were validated by qPCR and were confirmed as binding to the 3'UTR of miR196a by a dual luciferase reporter assay combined with mutational analysis of the miR-196a binding site., Results: miR-196a and HOXB9 are highly expressed in HNSCC compared to NOKs, a pattern also seen in HNSCC tissues by HOXB9 IHC and qPCR of miR-196a in LCM tissue. Knock-down of miR-196a expression decreased HNSCC cell migration, invasion and adhesion to fibronectin, but had no effect on proliferation. Furthermore, knock-down of HOXB9 expression decreased migration, invasion and proliferation but did not alter adhesion. We identified a novel primary mRNA transcript containing HOXB9 and miR196a-1 as predicted from in-silico analysis. Expression array analysis identified a number of miR196a targets, including MAMDC2 and HOXC8. We confirmed that MAMDC2 is a novel miR-196a target using a dual luciferase reporter assay with the effect abolished on mutation of the binding site., Conclusions: These results show that miR-196a and HOXB9 are overexpressed, perhaps co-ordinately, as HNSCC develops and exert a pro-tumourigenic phenotype in HNSCC and OPM cells.

Background: HOX gene expression is altered in many cancers; previous microarray revealed changes in HOX gene expression in head and neck squamous cell carcinoma (HNSCC), particularly HOXD10., Methods: HOXD10 expression was assessed by qPCR and immunoblotting in vitro and by immunohistochemistry (IHC) in tissues. Low-expressing cells were stably transfected with HOXD10 and the phenotype assessed with MTS, migration and adhesion assays and compared with the effects of siRNA knockdown in high-HOXD10-expressing cells. Novel HOXD10 targets were identified using expression microarrays, confirmed by reporter assay, and validated in tissues using IHC., Results: HOXD10 expression was low in NOKs, high in most primary tumour cells, and low in lymph node metastasis cells, a pattern confirmed using IHC in tissues. Overexpression of HOXD10 decreased cell invasion but increased proliferation, adhesion and migration, with knockdown causing reciprocal effects. There was no consistent effect on apoptosis. Microarray analysis identified several putative HOXD10-responsive genes, including angiomotin (AMOT-p80) and miR-146a. These were confirmed as HOXD10 targets by reporter assay. Manipulation of AMOT-p80 expression resulted in phenotypic changes similar to those on manipulation of HOXD10 expression., Conclusions: HOXD10 expression varies by stage of disease and produces differential effects: high expression giving cancer cells a proliferative and migratory advantage, and low expression may support invasion/metastasis, in part, by modulating AMOT-p80 levels.

Purpose: Prospective evaluation of bladder tumor targeting by Hexvix(®) fluorescence., Patients and Methods: From September 2008 to April 2012, 107 patients have been evaluated using Hexvix(®) technique (blue light) for typically papillary bladder tumor or suspected bladder tumor. Clinical and pathological data have been collected prospectively and patients have been classified using EORTC score., Results: From the 107 patients, 67 have been identified with bladder cancer and 328 samples have shown positive fluorescence in blue light. Compared to white light, 13 additional tumors have been diagnosed by Hexvix(®) for 11 patients: Cis (n=6), LMP (n=3), pTa low grade (n=3), pT1 low grade (n=1) (P=0.003). The false positive rate for Hexvix(®) was 53.4% versus 52% for white light. Previous TCC history, multifocality and EORTC score for recurrence and progression have been associated with better bladder cancer targeting by Hexvix(®) (P=0.007; P=0.01; P=0.03; P=0.04)., Conclusion: In our experience, Hexvix(®) targeting was associated with better diagnosis for bladder cancer with 9% (13/144) of new positive samples (P=0.003). In our study, false positive rate is a critical point (53.4%). Multifocality, previous TCC, and EORTC score for recurrence and progression might allow selecting patients to be targeted by Hexvix(®)., (Copyright © 2012 Elsevier Masson SAS. All rights reserved.)

Objective: Evaluate epidemiology, diagnosis and outcome of de novo renal cell carcinoma in renal transplanted patients., Patients and Method: From June 1989 to December 2007, 824 renal transplantations were carried out and followed in annual consultation by an urologist with abdominal echography or tomodensitometry. The suspect renal lesions were treated by a widened nephrectomy. Incidence, diagnosis, treatment, histological type, and outcome of all patients were analysed., Results: Thirty-three patients had nephrectomy for suspect renal lesions. Twenty-two de novo tumours of native kidneys among 21 patients were diagnosed (15 renal clear cell carcinoma and seven papillary tumours) with mean time after transplantation of 25,6 months (2.3-105.5). All tumours were classified pT1aN0M0. Only one patient died at 8 months of metastatic dissemination of a papillary tumour classified initially pT1aN0M0. All the other patients are alive with mean follow-up of 34.8 months (2.8-113.9). Specific survival to 5 years was 93.3%., Conclusion: The increase risk of tumour at the renal transplanted patient led to propose in the event of suspect lesions of the native kidneys, a widened nephrectomy. In our series, 65% of the operated patients carried a cancer. The good forecast of these localized tumours justifies a regular radiological monitoring and an aggressive therapeutic attitude despite of absence of tumours in 35% of the transplanted patients., (Copyright © 2010 Elsevier Masson SAS. All rights reserved.)

Objective: To evaluate the epidemiology, diagnosis, and outcome of de novo renal cell carcinoma in renal transplant recipients., Patients and Methods: From June 1989 to August 2006, 800 renal transplant recipients were followed up annually by a urologist using abdominal ultrasonography or computed tomography. Renal lesions considered suspect were treated using extended nephrectomy. Incidence, diagnosis, histologic type, treatment, and outcome were analyzed in all patients., Results: Thirty-three patients underwent nephrectomy because of suspect renal lesions including 22 de novo tumors in 21 native kidneys (renal clear-cell carcinoma in 15 and papillary carcinoma in 7). All tumors were classified as pT1aN0M0. Mean (range) time after diagnosis was 25.6 (2.3-105.5) months. Only 1 patient died, at 8 months after diagnosis. All other patients were alive at follow-up of 34.8 (2.8-113.9) months. Five-year survival was 92%., Conclusion: The increased risk of tumor in renal transplant recipients leads us to propose extended nephrectomy in the case of suspect lesions in the native kidney. In our patients, 65% of patients had malignant lesions. Good prognosis for these localized tumors justified aggressive therapy even though 35% of transplant recipients were tumor-free.

Objective: To evaluate the success of ureteral stent placement to treat or prepare for surgical treatment of urologic complications after renal transplantation, according to a type of ureteral anastomosis., Patient and Methods: From May 1989 to December 2006, we performed 703 kidney transplantations including 412 extravesical ureteroneocystostomy (according to Lich-Gregoire technique) and 265 transvesical ureteroneocystostomy (according to Politano-Leadbetter technique). We retrospectively analyzed our endoscopic management of urinary leaks and ureteral strictures. The criteria of success were the feasibility to place a ureteral stent, permitting good drainage of the upper renal graft tract before further endoscopic or surgical treatment., Results: Forty-three urinary leaks or ureteral strictures occurred after extravesical ureteroneocystostomy (n = 21) or after Politano-Leadbetter anastomosis (n = 22). The success rate of endoscopic management was 75% (n = 16) for Politano-Leadbetter anastomosis versus 53% (n = 11) for the Lich-Gregoire anastomosis. There was no statistical difference (P = .1)., Conclusion: Ureteroneocystostomy according to Lich-Gregoire procedure were twice less complicated than those according to the Politano-Leadbetter technique, but were associated with a rate of failure of ureteral stent placement in urgency higher to 25%.

Objective: To determine the sensitivity and specificity of MRI to distinguish between superficial and invasive transitional cell bladder cancer., Material and Methods: Sixty patients (52 men and eight women) with a mean age of 66.8 years were assessed by bladder MRI between May 2002 and November 2005 for a primary bladder cancer diagnosed by endoscopy, followed by transurethral resection and histological examination of the bladder cancer. Patients presenting a discordance between MRI findings and histological examination were analysed., Results: Imaging and pathology staging was concordant for 49 bladder cancers (40 superficial and nine invasive). Ten tumours considered to be invasive on MRI were superficial on histological examination and six of them relapsed at the resection scar at one or three months. The sensitivity of MRI was 80% for a specificity of 90% and a positive predictive value of 97.5%., Conclusion: MRI is a reliable examination to confirm the superficial nature of bladder cancer. When MRI and histological examination of a bladder cancer resection specimen are discordant, second look surgery is recommended to treat residual disease, which was present in 60% of cases in the present series.

Objective: To evaluate the proportion of surgical workload, in terms of time and number of procedures, devoted to chronic renal failure surgery in an urology and transplantation operating room., Material and Methods: Analysis of the operative activity of the urology and transplantation operating room of Amiens Hospital over a period of one year (2003), by evaluating the number of procedures and the operating room occupation time (time between entry and exit from the operating room) recorded on ecology forms completed for each operation. Procedures performed in this operating room comprise conventional adult urological surgery and chronic renal failure procedures (from creation of venous access sites for haemodialysis to treatment of complications of renal transplantation)., Results: Surgical management of chronic renal failure in the operating room represents 22.6% of all procedures and 30.1% of the operating room occupation time. 69% of the renal transplantation operating time and 95% of kidney harvesting operating time are performed on an oncall basis., Conclusion: Operative activity related to chronic renal failure represents almost one third of the total surgical workload of a department managing this disease. These data justify the allocation of additional surgical resources adapted to this activity that is growing in parallel to the number of patients with chronic renal failure.

Uretero-arterial fistulas are exceptional complications: only about forty cases have been reported in the literature. The authors report new two cases of fistula between the common iliac artery and the ureter. One fistula occurred in a context of prolonged ureteric stenting after radiotherapy and pelvic surgery for cancer of the uterus, and the other occurred after an aorto-bifemoral allograft. These fistulas generally occur in a particular clinical context, associating several aetiological factors. The clinical presentation is dominated by often massive and intermittent haematuria. The most useful diagnostic examinations are retrograde ureteropyelography and arteriography. The proposed treatment options (nephrectomy, vascular bypass graft and even embolization) depend on the urgency of the situation and involve both the blood vessel and the urinary tract. The prognosis depends on early diagnosis, but preventive measures can be envisaged to decrease the risk of appearance of these fistulas in high-risk patients.

Transitional cell carcinoma of the kidney with caval tumour thrombus is extremely rare. The authors describe the radiological signs suggesting the preoperative diagnosis and guiding the therapeutic approach. They present the case of a 51-year-old patient with excluded caliceal stones, and review 17 cases published over a period of 24 years during which considerable progress has been made in radiological investigations. Only CT appears to be able to indicate this aetiology and allows retrograde ureteropyelography looking for a tumour of the urinary tract. MRI provides the best assessment of tumour involvement of the inferior vena cava. Nephroureterectomy with excision of a perimeatal bladder cuff and cavotomy is the only oncological surgical procedure, despite the extremely poor prognosis.

The authors report a retrospective series of 114 radical prostatectomies performed over a ten-year period. This study was designed to investigate the factors likely to cause complications in order to prevent them. Stenosis of the vesicourethral anastomosis was observed in 22 patients and represented the commonest complication (19.2%). It generally occurred before the 12th month, while late stenoses. An anastomotic leak after removal of the bladder catheter appears to be the most significant factor. The decreasing incidence of these stenoses over the ten-year study period illustrates the role of operator experience. The most effective treatment for these stenoses is mono-incision which, completed by dilatation sessions, prevents recurrence without compromising continence.

Fifty-seven bladder neck incisions were studied with a minimum follow-up of 5 years. The results published after one year were very satisfactory, but became more disappointing after 5 years, with a 38.7 reoperation rate. The weight of the prostate appears to be the determining factor. The indications, 5 years ago, were much wider than they are today, with prostate weights of up to 45 g on digital rectal examination. This type of operation should now be reserved for young subjects wishing to retain antegrade ejaculation with a prostate not exceeding 20 to 30 g and in high surgical risk patients unsuitable for transurethral resection.

The authors report a rare case of bilateral ureteric stenosis associated with necrotic infiltration due to acute alcoholic pancreatitis. The obstruction was caused by bilateral ureteric fibrosis with calcified incrustations on the right side and massive obstructive calculi on the left side. Only one faintly similar case has been reported in the literature out of 17 cases of unilateral or bilateral ureteric stenosis complicating acute or chronic pancreatitis.

Extracorporeal shock wave lithotripsy (ESWL) has produced dramatic advances in the surgical management of urinary calculi. However this new procedure could induce deleterious effects as loss of renal function and hypertension. Animal studies show that ESWL induces focal areas of necrosis and subsequent fibrosis in renal tissue. In humans, imaging technics demonstrate renal alterations in 80% of the patients. Acute renal hemodynamic and functional changes is frequent but transient in most of the cases. Some studies have shown a tendancy to an increase in blood pressure related to a decrease in renal plasma flow in one study. However most of these results are based on retrospective surveys of blood pressure and renal function. Therefore prospective clinical trials are needed to investigate the important questions of ESWL-induced hypertension and decrease renal function.