Omar Safarini

Introduction and importance: Birt-Hogg-Dube (BHD) is a rare genetic disorder that results from a mutation in the folliculin (FLCN) gene. Manifestations include pulmonary cysts, fibrofolliculomas, renal tumors, and pneumothoraces. Genetic testing can be used to confirm the diagnosis when suspected. BHD syndrome is diagnosed in patients with negative FLCN gene results using diagnostic criteria. Case presentation: A male in his 20s presented with recurrent pneumothoraces. A physical examination revealed bumps on his face and upper body. A chest computed tomography scan revealed cystic lesions. Blood tests, ESR, and CRP levels were unremarkable. Punch skin biopsy revealed fibrofolliculomas. Genetic testing for the FLCN mutation returned negative. His history, physical exam, imaging, and histopathology suggested BHD syndrome despite having a negative family history and genetic analysis. Eventually, the patient was diagnosed with FLCN gene-negative BHD syndrome. Clinical discussion: More than a hundred families have been identified to have BHD worldwide. There are a few cases in the literature describing patients phenotypically presenting with BHD despite having a negative genetic analysis. One study in Japan found 16 out of 157 individuals having a clinical presentation of BHD with no mutations. Also, decreased expression of the FLCN mRNA may lead to BHD. Conclusion: BHD syndrome can present with a negative FLCN gene mutation; however, patients must meet the known diagnostic criteria such as criteria made by Menko et al., Gupta et al., and Schmidt et al. in order to have a diagnosis of BHD syndrome. Also, a qualitative decrease of FLCN with the absence of mutations may also lead to BHD.

University students are at a higher risk of using cognitive enhancers and psychoactive substances. Depression is associated with a noticeable decline in academic performance and can increase the risk of substance use. Due to sociopolitical issues, the use of cognitive enhancers and psychoactive substances among Palestinians has spread in the last decade. However, depression among tobacco and caffeine users remains underrecognized and neglected. A self-administrated questionnaire and the Beck Depression Inventory were used to assess the association of depression and the use of cognitive enhancers and psychoactive substances among university students at An-Najah National University in 2020. The response rate to the questionnaires was 78.8% (n = 1,051; 38.8% males, 61.2% females). The overall prevalence of depression was high (30.6% males, 34.7% females). The prevalence of cigarette smoking (39.2% males, 3.9% females), waterpipe smoking (43.1% males, 21.6% females), energy drink consumption (59.6% males, 29.7% females), coffee consumption (85.5% for each gender), tea consumption, and chocolate consumption was high, with significant differences in accordance to gender and academic fields. The multinomial logistic regression results revealed that cigarette smokers were more likely to have a higher risk of severe (odds ratio [OR] = 4.5, p = 0.001), moderate (OR = 3.27, p < 0.001), and mild depression (OR = 2.24, p = 0.002) than non-smokers. Severe depression was less prevalent among medical students than health sciences and non-medical students (OR = 0.215, p = 0.015). Moreover, males were less likely to have moderate (OR = 0.5, p = 0.012) and mild (OR = 0.48, p = 0.001) depression than females. Overall, the results of this study revealed the high prevalence of depression and the detrimental effects of smoking on students. Moreover, the findings suggest the urgent need to address depression and risk factors among Palestinian university students by educating them about mental health, identifying high-risk students, and offering easily accessible psychological help. Further, it is crucial to broaden the focus of studies to include students from various academic fields instead of focusing on medical students.

Introduction: Gestational diabetes mellitus (GDM) and hypertensive disorders of pregnancy (HDP) are the principal causes of maternal morbidity and mortality. The maternal morbidity and mortality burden for Palestinian women is relatively high, suggesting a substandard quality of care. Therefore, an early diagnosis of GDM and gestational hypertension (GH) can improve prenatal care for pregnant women and improve pregnancy outcomes. Previous studies demonstrated that elevated Hb levels in the first trimester indicate possible pregnancy complications and should not only be considered as good iron status. However, ethnic differences could play a role in determining the magnitude of the association. We hypothesized that high Hb levels (≥12.5 g/dl) in the first trimester (6-13 gestational weeks, GW) are associated with increased risk of fasting blood sugar (FBS) ≥126 mg/dl, systolic blood pressure (SBP) ≥140 mmHg, and diastolic blood pressure (DBP) ≥90 mmHg among pregnant Palestinian women visiting prenatal clinics in Palestine. Methods: Medical records (N=5263) were reviewed for singleton pregnancies who had their first maternity care clinic visit (6-13 GW) at primary healthcare centers of the Palestinian Ministry of Health in the north of the West Bank in 2018 and 2019. Women were excluded if they had FBS ≥92 mg/dl, SBP ≥140 mmHg, DBP ≥90 mmHg, ultrasound-based gestational age >13 weeks, or who were previously diagnosed with diabetes mellites, GDM, hypertension, GH, taking drugs for these conditions, or were smoking during pregnancy. Hb levels in g/dl were divided to low (<11.0), normal (11-12.49), and high (≥12.5). The associations between high hemoglobin levels and pregnancy complications in pregnant women were assessed by calculating the odds ratios (OR) and their 95% confidence intervals (CIs) using logistic regression. P-values of <0.05 were considered significant. Results: The final number of eligible records was 2565. Pregnant women with high Hb levels in the first trimester were at higher risk of high FBS (≥126 mg/dl; OR=2.99, 95%CI, [1.675-5.368]) and high systolic blood pressure (≥140 mmHg; OR=3.048, 95%CI, [1.252-7.421]) at 24 GW. Gravidity was significantly associated with decreased risk of high FBS (OR=0.838, 95%CI [0.704-0.991]). Conclusion: Our findings suggest that Hb level at registration could be utilized in predicting the risk of GDM and HP among Palestinian women who never had a previous history of these conditions. The results of this study could have important clinical implications for early screening, which could improve preventive and curative health services to promote the health of pregnant women and children.