Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominant Polycystic Kidney Disease.

Rationale: Hepatocyte nuclear factor 1 beta (HNF1B) nephropathy is a rare autosomal dominant monogenic kidney disease. We present a case mimicking autosomal dominant polycystic kidney disease (ADPKD), highlighting the phenotypic heterogeneity of HNF1B-related disease. Presenting concerns of the patient: A 37-year-old man presented with hypertensive urgency, accompanied by flank pain and abdominal distension. Despite the absence of familial kidney disease, imaging revealed large bilateral kidney cysts resembling ADPKD. Diagnosis: We initially suspected de novo ADPKD. However, negative genetic testing results for PKD1 and PKD2 led to a 43-gene cystic kidney sequencing panel which identified a deletion encompassing the entire HNF1B gene. Intervention: To alleviate discomfort caused by the kidney cysts, ultrasound-guided aspiration and foam sclerotherapy were performed. Tolvaptan, used for treating high-risk ADPKD, was not prescribed after confirming the diagnosis was HNF1B nephropathy. Outcomes: A diagnosis of HNF1B nephropathy was reached following gene panel testing. Abdominal symptoms improved following cyst aspiration and foam sclerotherapy. Novel findings: HNF1B nephropathy has a variable presentation but can lead to cysts appearing like ADPKD. A 43-gene cystic kidney sequencing panel identified the diagnosis in this uncertain case.

Justification: La néphropathie associée à HNF1B est une maladie rénale monogénique autosomique dominante rare. Nous présentons un cas s'étant présenté comme une polykystose rénale autosomique dominante (ADPKD), ce qui met en évidence l'hétérogénéité phénotypique de la néphropathie associée à HNF1B. Présentation du cas: Un homme de 37 ans présentant une crise hypertensive accompagnée de douleurs au flanc et d'une distension abdominale. Malgré l'absence d'antécédents familiaux de néphropathie, l'imagerie a révélé de gros kystes rénaux bilatéraux ressemblant à l'ADPKD. Diagnostic: Nous avons initialement suspecté une ADPKD de novo. Cependant, les résultats négatifs aux tests génétiques pour PKD1 et PKD2 ont conduit à un panel de séquençage de 43 gènes de rein kystique qui a permis d'identifier une délétion englobant l'ensemble du gène HNF1B. Intervention: Une aspiration et une sclérothérapie à la mousse guidées par échographie ont été effectuées pour soulager l'inconfort causé par les kystes rénaux. Le tolvaptan, qui est utilisé pour traiter le risque élevé de progression de l'ADPKD, n'a pas été prescrit après la confirmation du diagnostic de néphropathie associée à HNF1B. Résultats: Un diagnostic de néphropathie à HNF1B a été posé à la suite du test de panel de gènes. Les symptômes abdominaux se sont améliorés après l'aspiration des kystes et l'échosclérothérapie à la mousse. Nouveaux résultats: La néphropathie associée à HNF1B a une présentation variable, mais peut conduire à l'apparition de kystes comme l'ADPKD. Un panel de séquençage de 43 gènes de rein kystique a confirmé le diagnostic dans ce cas incertain.

Knowledge and Attitudes of Critical Care Nurses Regarding Pain Management in Saudi Arabia.

Background: Approximately five million patients on yearly basis are being admitted to the critical care unit around the world. Around (77%) of these patients suffer from pain during their stay in critical care units. Undertreated pain aggravates anxiety, sleep deprivation, agitation, delirium, and depression that often lead to a chronic condition. There are various barriers toward recognition and proper management of pain such as sedation, the presence of endotracheal tube, healthcare providers lack of knowledge etc. Therefore, it becomes essential for the nurses to have the required knowledge related to pain, valid pain assessment tools, and proper management. Objective: The present study aimed at investigating the critical care nurses' knowledge and attitude towards pain management at a university hospital in Saudi Arabia. Methods: A descriptive cross-sectional design of 112 nurses working at intensive care units and emergency department. The data collected using a knowledge and attitude regarding pain (KASRP) survey. Results: Majority of nurses had inadequate knowledge regarding pain management. Among 112 nurses, only 8 nurses (7.1%) were with good level of knowledge compared by 54 nurses (48.2%) with poor level of knowledge. Results showed significant association between knowledge and attitude and the current position in the ICU (p=0.043). Conclusion: It is mandatory to monitor nurses' pain management knowledge continuously. As well as to emphasis significance of an educational programs that serve nursing practice.

The Common Neurological Presentations and Clinical Outcomes of Coronavirus Disease 2019 in Saudi Arabia.

Background: Neurological manifestations have increasingly become recognized in COVID-19. People from different ethnic backgrounds are experiencing different outcomes related to SARS-CoV-2 infection. Several cohort studies reported the common neurological manifestations and complications associated with COVID-19 disease around the world however, the prevalence of neurological complications associated with SARS-CoV-2 infection in the Arab countries and Saudi Arabia is still unknown. Objective: To study the prevalence, risk factors, and characteristics of the neurological complications associated with COVID-19 and their relationship with clinical outcomes. Methods: We conducted a prospective, single-center, observational, cohort study of consecutive hospitalized adults COVID-19 patients with and without neurological manifestation admitted between March 2020 until the end of December 2020. Data was collected prospectively using electronic medical records; Cases and controls were observed until they either get discharged from the hospital or died. The primary outcomes were death, survival, and survival with sequalae. Results: Among 497 patients with COVID-19, 118 patients (23.7%) had neurological complications, 94 patients (18.9%) had encephalopathy, and 16 patients (3.2%) had cerebrovascular accidents (CVA). Patients with COVID-19-related neurological complications were older and more likely to have a pre-existing neurological disease. The most common neurological syndrome associated with COVID-19 were encephalopathy (18.9%) and headache (13.7%). Pre-existing neurological disease and an elevated neutrophil count were the strongest predictors of developing any neurological complications. Death form COVID-19 was associated with age (OR 1.06, 95% CI 1.02-1.10, P = 0.001), invasive ventilation (OR 37.12, 95% CI 13.36-103.14), COVID-19-related-neurological complications (OR 3.24, 95% CI 1.28-8.21, P = 0.01), and elevated CRP level (OR 1.01, 95% CI 1.00-1.01, P = 0.01). Conclusions: COVID-19 is associated with a wide range of neurological manifestations in people living in Saudi Arabia, with older individuals and those with underlying neurological disorders being most at risk. The presence of neurological complications was associated with increased mortality and poor outcomes.

Normative and Equated Data of the Original and Basic Versions of the Montreal Cognitive Assessment among Community Dwelling Saudi Arabians.

INTRODUCTION: Currently, there are standard and basic versions of the MoCA, the latter designed for those with lower educational achievements. Community-based normative data on these versions of the MoCA from Arabic populations are deficient, and there is little data demonstrating how both scales perform in comparison. We aim to obtain normative performances from both versions and equate the measures of both scales. METHODS: Community-based recruitment of healthy volunteers ≥ 18 years of age. Participants underwent testing with both versions. Demographic data was collected with regard to age, gender, years of education, diabetes, and hypertension. Regression analysis was performed to determine significance of variables, and the circle-arc equating method was used to equate the two scores from each scale. RESULTS: 311 participants were included in the study. The mean (sd) age was 45.8 (15.96), females were 184 (59.16%), and the duration of education was 12.7 (5.67) years. The mean scores on the MoCA-A and MoCA-B were 21.47 (4.53) and 24.37 (4.71) (P < 0.0001), respectively. Multivariate regression showed significance of age and years of education in both versions (both variables with P < 0.0001). Correlation coefficient between the two scales was 0.77 (P < 0.0001). The largest equated difference between both MoCA versions was four points in those scoring from 10-20 on the MoCA-A. CONCLUSION: We present normative data from a large Saudi Arabian community-based sample with two different MoCA tests, and an equating graph is presented to determine the corresponding expected performance between the two scales.

Prevalence, Predictors, and Awareness of Coffee Consumption and Its Trend among Saudi Female Students.

This study aimed to investigate the prevalence, trends, and predictors of coffee consumption among Saudi female students and its association with anthropometric and demographic variables. A survey-based study using a face-to-face interview was designed, and 930 (aged 21.5 ± 2.1 years) apparently healthy female students from different departments of King Saud University participated. The prevalence of coffee consumption was significantly higher (88.2%, p < 0.03) in the central Riyadh region. Coffee consumers had significantly higher prevalence of being overweight than non-consumers (p = 0.02). The frequency of coffee consumption was significantly higher (p < 0.02) in students who were single and belonged to families with a moderate income level. Coffee consumption was significantly higher among first-year students with a high-scale grade point average (GPA) (p < 0.001 and p = 0.03, respectively). Increased coffee consumption during exam and stress conditions was associated with unhealthy dietary habits such as using more sugar and spices. The prevalence of coffee consumption was high among Saudi females. High body mass index (BMI) and increased family income level were strong determinants for coffee consumption. Continued nutritional education and awareness about the potential positive and negative health effects of coffee consumption and the importance of food label use should be provided to younger generations in order to correct the wrong perceptions.

Preference of sweeteners among Saudi diabetes patients from a tertiary health care centre in Riyadh, Saudi Arabia.

BACKGROUND: Choice of sweetening options can influence glyceamic control among patients with diabetes. This study aims to investigate the preference of added sweeteners for Saudi patients with diabetes, factors associated with the choice of sweeteners and the attitude of the patients towards the use of artificial sweeteners. METHODS: This was a cross-sectional study conducted at King Saud University Medical City in Riyadh, Saudi Arabia and targeting Saudi patients with type 2 diabetes mellitus. Data was collected via personal interviews accessing medical records of interviewed patients. Patients were asked about consumption of sweeteners and types of consumed soft drinks on daily basis. Bi-variate analysis of the associations between choice of sweeteners and patients characteristics was performed and followed by binary logistic regression to adjust for potential confounders such as age, gender, and education level. RESULTS: A total of 302 Saudi diabetic patients were recruited in this investigation. Among this sample, frequency of patients reporting weekly consumption of white sugar was the highest (57%), followed by honey (26%) and artificial sweeteners (12% for powder form and 10.5% for tablets). Consumption of white sugar was significantly more frequent among patients with higher level of Body Mass Index (BMI) (P value < 0.05). The frequency of using honey was higher among females while consumption of either sugared or low calorie soft drinks was significantly higher among male patients (P values < 0.05). Upon asking the patients about their attitude towards artificial sweeteners, only 25% of the sample agreed that their use can aid in reduction of caloric intake while 35% of the sample agreed that artificial sweeteners can be harmful to the body. CONCLUSIONS: Among this sample of type 2 diabetes patients, the frequency of white sugar and honey use as a sweetening option is high. These findings generate the need for further research to investigate the effectiveness of health education and nutritional advice among diabetes patients attending similar clinical settings in Saudi Arabia.