Novel frameshift mutations in ADAMTS13 in two families with hereditary thrombotic thrombocytopenic purpura

Introduction Long-term fatigue is a common condition that involves both physical and psychiatric symptoms, and it affects multiple age groups and causes morbidity and disabling symptoms that range from mild to severe symptoms. Many patients are discharged following coronavirus disease 2019 (COVID-19) infection without proper follow-up and evaluation of long-term effects, resulting in the improper treatment of the long-term symptoms, which increases the burden on the patients and healthcare systems. Coronavirus disease 2019 (COVID-19) is a disease caused by the novel SARS-CoV-2. It results in a variety of symptoms, including fever, cough, respiratory distress, the loss of the sense of smell and taste, and long-term effects such as post-severe acute respiratory syndrome (SARS), which is characterized by chronic fatigue, sleep disturbances, myalgia, weakness, and depression. The aim of this study is to assess the incidence of long-term fatigue in patients who achieved remission from COVID-19 at King Abdulaziz Medical City (KAMC), National Guards Health Affairs, Riyadh. Methods We conducted a cross-sectional, non-probability convenience sampling study. All participants who were diagnosed with COVID-19 and achieved remission were approached in an outpatient department (OPD)setting and signed an informed consent form and were evaluated by standard questionnaires at clinics after remission from COVID-19 at King Abdulaziz Medical City in Riyadh, Saudi Arabia. A total of 343 subjects who fit the inclusion criteria of any patients who have been diagnosed with COVID-19 and achieved remission were included in the study. This study included patients from the National Guard Hospital, students, and staff members. The primary outcome variable was the incidence of long-term fatigue in patients who achieved remission from COVID-19 as measured by the Chalder fatigue scale (CFQ). The participants were approached in clinics and general OPDby one of the research teams. Results Based on the study design, 343 patients were selected from King Abdulaziz Medical City in Riyadh, the incidence of long-term fatigue in patients who achieved remission from COVID-19 was 55.7%, and the rest were normal (44.3%). The incidence of long-term fatigue was statistically significantly higher in femalesand those who had been diagnosed with COVID-19 and achieved remission for more than two months. Theage of the participants ranged from 18 to more than 45, with a predominance of females (60.6%). Regarding body mass index (BMI), 39.9% were overweight, and 29.2% were obese. Additionally, the incidence of patients with associated chronic disease was 27.4%; among these chronic diseases, hypertension was the most common one (18.1%), followed by diabetes (17%) and thyroid diseases (14.9%). Conclusion To the best of our knowledge, this is one of the few studies that were carried out in Saudi Arabia that assess long-term fatigue post COVID-19 infection. In our study, we discovered that long-term fatigue was highly prevalent (55.7%). We found that among those participants, more than half of those who reported chronic fatigue had a COVID-19 diagnosis for longer than two months. Furthermore, females made up the majority of those who had long-term fatigue. We urge that additional longitudinal and standardized studies be carried out in order to thoroughly determine the severity of long-term fatigue in patients who obtained remission from COVID-19.

Background Monitoring children's acquisition of developmental milestones is integral to pediatric practice. Though pediatricians are responsible for evaluating children's development, parents have a crucial role in addressing delays as early as possible, where early detection of developmental delay can help in early intervention and ultimately potentiate a child's cognitive and social abilities toward an independent life. This study assesses parental knowledge of the warning signs denoting delayed developmental milestone acquisition, in addition to analyzing demographic variables that may influence their level of knowledge. Methods This cross-sectional study included 376 parents of children attending pediatric clinics in National Guard Health Affairs- King Abdulaziz Medical City, in Jeddah, Saudi Arabia. A two-section structured questionnaire was utilized. It included 16 option-based questions with one correct answer, while the other options were either an under or overestimate of the age at which the child should acquire a particularly significant milestone development across different domains. A score of 10 out of 16 was chosen as the minimum to show the appropriate level of knowledge. Results Most participants (n=282; 75%) were women, and 174 (46.27%) were between 29 and 39 years old. The highest reported level of education was college or higher (n=214; 56.91%). Only 41 (11%) parents had the required level of knowledge, while the remaining 335 (89%) fell short of meeting the passing level (mean 6.59, SD= 2.72). The motor domain had the highest level of accuracy, followed closely behind the cognitive domain. The language and social domains exhibited lower levels of accuracy. Conclusions Despite the majority of parents in this group possessing a college education and availing multiple health resources, there is a significant gap in their knowledge of typical trajectories of development milestones. Thus, there is a need for a nationwide initiative to promote the parent's proactive role in monitoring their children's growth.

To measure the quality of life in the pediatric population with amblyopia at National Guard Health Affairs Jeddah, Saudi Arabia, our study used a non-probability consecutive sampling technique. Participants’ eligibility criteria included amblyopic patients within the pediatric age group. Patients’ contact information was collected from medical records in King Abdulaziz Medical City, National Guard Health Affairs, Jeddah, Saudi Arabia. Phone calls were utilized to contact the patients’ guardians and to complete the questionnaires. Data was pooled in a spreadsheet and analyzed using SPSS v.26.0. Categorical data were described using frequency and percentages. Likert-scale questions were described using frequency and percentages along with mean and standard deviation. Reliability analysis was done for each domain to calculate Cronbach’s alpha. The Statistical Package for Social Sciences (SPSS) version 26.00 was used for the analysis. Sixty participants were included in this study; almost half of the children had struggles in seeing moving objects, which resulted in 35% having difficulties catching a moving object while playing, observing pictures and words, and learning new things at school. There was a non-negligible percentage who had missing days of school attendance due to vision issues and clinic appointments. Cronbach's alpha was calculated for all of the domains; most of the values were above 0.8, with some of the values reaching above 0.9, indicating good to excellent internal consistency. The study concluded that amblyopia has a huge effect on children’s quality of life and their families. A limited number of papers pertaining to the prevalence, impact, and quality of life of patients affected by amblyopia are available in Saudi Arabia. Therefore, more studies are recommended to tackle the same topic and to make it feasible to generalize the results in Saudi Arabia, yielding a more accurate conclusion.

Introduction Pigmented villonodular synovitis (PVNS) is a proliferative disorder that affects synovial joints. PVNS, also known as tenosynovial giant cell tumor (TGCT), is a broad term that refers to a variety of diseases, both localized and diffuse. The current study aims to describe the outcomes of PVNS in patients in King Abdulaziz Medical City (KAMC) Riyadh, Saudi Arabia especially after surgical resection, highlighting radiological and pathological evidence of disease recurrence and symptom progression. The study is also concerned with comparison between patients who had adjuvant radiotherapy versus patients who underwent surgery only in addition to comparison between patients who underwent arthroscopic surgery versus those who underwent open surgery.ObjectivePigmented villonodular synovitis is a disorder that occurs in the synovial joints with the highest incidence rates in the third and fourth decades. PVNS is categorized into localized and diffuse. The current study aims at defining the recurrence rate and outcomes of PVNS in patients in KAMC between 2008 and 2019.DesignA retrospective study that comprises patients with proven PVNS of the knee, hip, and elbow for a minimum follow-up duration of two years. Data was collected from the KAMC database, National Guard Health Affairs, Riyadh, Saudi Arabia.ResultsNearly a third of patients reported a prior history of trauma. The knee joint was most frequently involved followed by the ankle followed by the hip. Diffuse PVNS was more common than localized disease with more affection on the right side. The most common presenting symptoms were pain and swelling followed by decreased range of motion (ROM). About one-fifth of patients had undergone prior surgery. 30.8% received adjuvant radiotherapy. Post-operative stiffness or decreased ROM were noted in 23.1% of cases. Half of the patients received follow-up for more than 24 months. Overall recurrence rate was 19.2%. Recurrence rates were significantly higher in patients with left-sided lesions and those with prior surgery but it did not reach statistical significance. Non-statistically significant trends for increased recurrences were also seen with older age, diffuse type PVNS, and knee involvement.ConclusionsIn summary, this study reports the outcomes of PVNS after surgical resection in patients in King Abdulaziz Medical City. The study showed recurrence rates being significantly higher in patients with left-sided lesions than those with prior surgery. Also, non-statistically significant trends for increased recurrences were also seen with older age, diffuse type PVNS, and knee involvement.

The impact of automating laboratory request forms on the quality of healthcare services.

Incidence trends of viral hepatitis A, B, and C seropositivity over eight years of surveillance in Saudi Arabia

objectives:To estimate the prevalence of subclinical hypothyroidism (SCH) in Saudi Arabia and assess the need for an SCH screening program.Methods:This cross-sectional study was conducted at King Abdulaziz Medical City and the Khashmulaan Clinic at the National Guard Health Affairs, Riyadh, Saudi Arabia in August 2016. All women attending the antenatal clinics were invited to participate in the study. In addition, data were retrieved from the files of pregnant women who had been screened for hypothyroidism from January 2016 to August 2016. A total of 384 pregnant women were included in the study.Results:The prevalence of SCH in pregnant women in this study was 50/384 (13%) with 95% confidence intervals (CIs): 9.82%-16.80%. Pregnant women who were randomly screened using a survey (n=127) were 3 times more likely (OR: 3.1; 95% CI: 1.182 to 8.704, p=0.022) to have SCH compared to pregnant women who were screened based on their physician’s judgement (n=257). Results showed older age (≥40 years) was associated with an insignificant decrease in the risk of SCH.Conclusion:Random screening for SCH in pregnant women showed a higher prevalence in comparison to women who were screened as a result of physician referrals. The results highlight the urgent need for larger studies to investigate the prevalence of SCH as well as the need for an SCH screening program.

Introduction Intracranial cysts (ICs) are rare pathologies that are often found incidentally during radiological examinations. They may appear in various brain regions and are categorized as normal, congenital, traumatic, or tumor-associated variants. ICs can be asymptomatic or cause symptoms, such as headaches, visual impairments, or seizures, depending on their size and location. Severe complications include obstructive hydrocephalus, loss of consciousness, and intracranial bleeding. Surgical excision is the most accepted type of management in most ICs. Objectives This study aimed to evaluate 27 surgically managed ICs in a tertiary hospital focusing on their clinical, radiological, histopathological, surgical outcomes, and prognosis to enhance understanding and management of these rare, benign cysts. Methodology This retrospective cohort study included 27 surgically managed ICs with pathological confirmation in King Abdulaziz Medical City, National Guard Health Affairs, Jeddah, Saudi Arabia, from May 2016 to May 2023. All extracranial and nonsurgically managed cysts have been excluded from this study.Data on demographics, clinical presentations, radiological features, surgical outcomes, and follow-up were retrospectively extracted and analyzed. MRI and CT scans were reviewed to determine cyst characteristics. Surgical outcomes and postoperative complications were recorded. Data were collected via Google Forms and analyzed using the JMP Pro software. Ethical approval was obtained from King Abdullah International Medical Research Center, Jeddah, Saudi Arabia. Results The study included 27 ICs: 11 (40.74%) colloid cysts, six (22.22%) epidermoid cysts, five (18.51%) adamantinomatous craniopharyngiomas, two (7.40%) neuroepithelial cysts, and one each of Rathke's cleft cyst (3.70%), xanthogranuloma (3.70%), and dermoid cyst (3.70%). All 27 cases were surgically managed (100.00%), with gross total resection achieved in 14 (51.85%) cases.Only 12 cases (44.44%) did not develop any surgical complications. Twenty-two cases (81.48%) experienced an improvement in the preoperative presenting symptoms. During the follow-up, only three cases (11.11%) had evidence of recurrence. Conclusion This study analyzed 27 ICs of various histopathological types. Each type showed distinct clinical and radiological features. Surgical management generally improved preoperative symptoms with low mortality and recurrence rates, although complications were common. Identifying specific radiological features is crucial for an accurate preoperative diagnosis and optimal surgical outcomes.

PurposeOur study aims to assess parents’ ability to detect early language delay in their children in association with related demographic and environmental factors to help in predicting its risk.MethodsA cross-sectional study was conducted at three main primary health care centers at National Guard Health Affairs, Riyadh, Saudi Arabia. Participating parents were asked if they think their children have language delay and if they were able to detect it early. Then, validated age-appropriate screening tools were administered to assess the child’s language development. The parents' answers regarding their child’s language development were then compared to the screening tool assessment results.ParticipantsA total of 250 parents attending a well-baby clinic for their children’s routine vaccinations participated in the study after informed consent was obtained.ResultsLanguage delay was more prominent in the one-year-old age group (26.7%). In addition, children who were not breastfed were significantly more likely to have language delays (P-value 0.014). The parents’ ability to detect language delay varied among the different age groups. Fifty-seven point one percent (57.1%) of children aged two years old and 61.5% of children aged five years old who were found to have language delay were not noticed by their parents (P-value 0.03, 0.02).ConclusionParents showed a lack of ability to detect language delay early. Increasing their awareness of the typical language development milestones and the importance of early intervention is very important to minimize the consequences of late intervention.

12 Outpatient follow-up is associated with reduced emergency department visits in patients with sickle cell disease: a retrospective cohort study from riyadh, saudi arabia

1. Mostafa A. Abolfotouh[1][1] 2. Samar A. Al Saleh[1][1] 3. Aisha A. Mahfouz[1][1] 4. Sherif M. Abolfotouh[2][2] 5. Haya M. Al Fozan[3][3] 1. 1King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia 2. 2Alexandria University, Egypt 3. 3King Saud bin-Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia 1. Mostafa A. Abolfotouh, Biobanking Section, King Abdullah International Medical Research Center (KAIMRC), Mail Code 1515, King Saud Bin-Abdulaziz University for Health Sciences (KSAU-HS), King Abdulaziz Medical City, National Guard Health Affairs, P.O.B 22490, Riyadh 11426, Saudi Arabia. Email: mabolfotouh{at}gmail.com This study aimed to assess acquired immune deficiency syndrome (AIDS)-related knowledge, attitudes, and risk perception among Saudi nursing students, and to identify predictors of their willingness to provide care for patients with AIDS. A cross-sectional study of 260 baccalaureate nursing students at King Saud bin-Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia, was done using a previously validated instrument. Students’ knowledge percentage mean score (PMS) on AIDS was 72.93 ± 10.67 reflecting an average level of knowledge. There were many misconceptions about how AIDS is transmitted, for example, use of same toilets and bathrooms and washing clothes together (24.9%), swimming (53.7%), and coughing and sneezing (49.6%). Nursing students reported an overall negative attitude toward AIDS, with a PMS of 43.48 ± 9.21. The majority of students agreed that AIDS patients should be isolated from other patients (83%), and should not share the room with other noninfected patients (81.8%), and some reported that people living with AIDS deserve what has happened to them (24.7%). After controlling for confounders, students’ poor knowledge and negative attitude were associated only with having never been given nursing education as their primary university education “Stream 2 students” ( p = .012 and p = .01, respectively). These findings have implications for development of teaching strategies and curricular approaches for nursing to address this health care issue. [1]: #aff-1 [2]: #aff-2 [3]: #aff-3

IntroductionIn Saudi Arabia and countries around the world, clinical health practice has been transformed by the coronavirus 2019 (COVID-19) pandemic caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). During the early days of the pandemic, it was a major challenge to care for pregnant women with laboratory-confirmed COVID-19 and their newborn infants. In this article, we share our experience in the management of newborn infants delivered to mothers with laboratory-confirmed COVID-19.MethodsA prospective single-center observational study was conducted at King Abdulaziz Medical City in Jeddah, National Guard Health Affairs, Saudi Arabia. Data collection started in March 2020 and was completed in October 2020. The inclusion criteria included mothers with laboratory-confirmed COVID-19 and their newborn infants.ResultsA total of 45 pregnant women with polymerase chain reaction (PCR)-confirmed COVID-19 were included in the study. Their mean age was 30.23±5.92 years. The mode of delivery was spontaneous vaginal delivery in 27 women (60%), cesarean section in 15 women (33.3%), and assisted vaginal delivery in three women (6.7%). Three mothers (6.7%) required intensive care unit admission. A total of 45 babies were born and 25 were females (55.6%), 20 males (44.4%). None of the babies had specific symptoms related to COVID-19. All babies were tested negative on the two COVID-19 nasopharyngeal swabs. Babies were initially admitted to the NICU and one baby required prolonged NICU stay due to extreme prematurity (23 weeks), one baby died due to hypoxic-ischemic encephalopathy and respiratory distress syndrome, and the remaining babies were discharged home in a stable condition.ConclusionOur experience suggests that maternal outcomes are generally favorable and no difference between vaginal and cesarean delivery in the risk of virus transmission. With strict implementation of infection prevention measures, mother-to-infant transmission is very unlikely. Early bathing of the newborn infant is preferred to reduce the risk of transmission of infection to newborn infants and the hospital staff. Breastfeeding is safe if performed under strict infection prevention measures.

ObjectivesThe objectives of this study are to explore the most common causes, patterns, and severities of head traumas, to evaluate the outcomes of traumatic head injury (TBI) patients followed in the clinic, and to calculate the prevalence of admitted cases.MethodsIn our retrospective cohort study, we included all the cases of adults above 18 years old diagnosed with head traumas (171 patients). The inclusion criteria were patients who presented to the emergency department at National Guard Health Affairs (NGHA), Jeddah, Saudi Arabia from 2016 to 2020. Patients were categorized according to their Glasgow Coma Scale (GCS) score upon admission.ResultsOf the 171 patients in this study, 151 (88.3%) were males and 20 (11.7%) were females. The median age of our patients was 31 years. Most of the cases had no medical illnesses 124 (72.5%). The most common mechanism of injury was motor vehicle accidents (MVAs) in the majority of our cases (105, 61.4%), followed by falls from heights (34, 19.9%). The commonest computed tomography (CT) finding was subdural hematoma (47, 27.4%). The majority of the associated injuries were thoracic cases (43, 25.1%), followed by spinal (40, 23.4%). Most of the patients were admitted to NGHA (120, 70.2%), while the rest (51, 29.8%) were transferred from other hospitals. Of the total of 171 patients, 134 (78.4%) were treated conservatively. There were no associations between mortality nor length of stay and patients’ demographics, except for GCS on admission showed a significant p-value (<0.005).ConclusionIn this study, it was found that the most common causes of TBI are MVAs followed by falls from heights. Therefore, preventive measures such as traffic safety rules need to be addressed.

Background: Celiac disease (CD) is an autoimmune disease triggered by a permanent sensitivity to gluten, causing a significant disturbance to the small intestines and multiple other organs. We aim in this study to assess physicians’ knowledge, practice and attitude towards celiac disease screening. Assessing the physicians’ knowledge will help us to understand how we can improve the practice regarding celiac disease. Methodology: A cross-sectional study using a validated questionnaire from previous studies distributed electronically among primary care and pediatric physicians. The questionnaire consisted of: 7 questions about physicians characteristics, 15 questions about knowledge, 15 questions about attitude and 5 practice questions. Respondents were asked to identify any queries they had about the questions. Time needed to fill the questionnaire was approximately 10 minutes. Results: The final sample was 264 participants with mean age of 32.31 years old where 79.9 % of the participants were aged under 40 years old. Moreover, 52.3 % of the participants were females. Considering specialty, we found that 48.5 % of the participants were family medicine physicians while 47.0 % were general pediatrics. Chronic/ intermittent diarrhea and weight loss were the most commonly known symptoms among the participants (85.1 % and 85.6 % respectively) followed by abdominal pain (78.1 %). Considering the best first line screening tool of celiac disease, 78.1 % of the participants successfully identified Anti-tissue transglutaminase antibody and 85.6 % of them were able to identify bowel biopsy as the best tool in order to confirm the diagnosis of CD, however only 20.9 % correctly identified Anti-endomysium antibody as the best tool for follow-up. Conclusion: We found that there is a deficiency in knowledge about CD among physicians with no significant difference between pediatrics and family medicine physicians. The physicians had moderate knowledge considering symptoms and risk factors of CD with good knowledge considering the diagnosis tool. More educating courses should be provided to the physicians about the diagnosis and management of CD. Key words: awareness, Celiac disease, pediatric age group, Saudi Arabia

Oral care of intensive care unit (ICU) bound individuals is essential for overall health outcomes and to prevent complications. Nurses, who are the primary caregivers, should possess adequate knowledge, attitude, and practice (KAP) in this regard to provide optimal care to these patients. There are no standardized guidelines existing at present in this regard, making the practice of oral care more challenging.There is a diversified representation of nurses who practice in this region of the world and have not been analyzed in the past. This study would like to address this paucity of data. Hence, the aim of the present study was to evaluate the knowledge, attitude, and practice of nurses regarding oral health care in ICU patients along with analyzing any existing hospital-based policies related to oral care. A cross-sectional study was conducted among 230 nurses practicing at ICU of the National Guard Health Affairs (NGHAs) Hospital, King Abdulaziz Medical City, in Riyadh City, Saudi Arabia. Nurses responded to 22 closed-ended questionnaires, which were adopted after content validation and reliability assessment. Descriptive statistics, chi-square analysis, and multinomial logistic regression were carried out using the Statistical Package for the Social Sciences (SPSS, Version 20, 2011; IBM Corp., Armonk, USA). A total of 230 (51.1%) nurses responded. The mean working experience of 12.6 (±7.5) years and ICU experience of 10.6 (±6.7) years were observed. Seventy-four (32.2%) nurses mentioned they received oral care training for ICU patients as part of their degree. A significant variation (p=0.03) in response was observed based on qualification concerning the knowledge of nurses if improper oral care among ICU patients could cause systemic complications. Nurses with less than five years' experience were more likely to provide oral care only once per day compared to nurses with higher experience (>10 years) (OR: 2.97, p=0.00, 95% CI: 2.40-12.2). There were certain knowledge, attitude, and practice-based questions that elicited significant differences in responses based on the qualifications and experience of the nurses. Overall, the nurses did possess fair knowledge and favorable attitudes towards oral care in these patients.