Borjeson-Forssman-Lehmann Syndrome: Clinical Features and Diagnostic Challenges.

Borjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked recessive disorder resulting from mutations in the PHF6 gene. The syndrome is characterized by short stature, obesity, hypogonadism, hypotonia, intellectual disability, distinctive facial features, fleshy ears, and finger and toe abnormalities. However, the diagnostic challenge in identifying BFLS remains a topic of interest. In this case report, we present the clinical characteristics of a proband with BFLS, highlighting the additional features of hypotonia, intellectual disability, and distinctive facial features. While no definitive treatment exists for BFLS, patients benefit from specialized education and ongoing supervision from early childhood through adulthood. Symptomatic treatment, including close follow-up, may be necessary for complications such as seizures and hearing problems. Mastectomy or testosterone replacement therapy may be considered on a case-by-case basis. Genetic counseling for X-linkage should be offered to affected families.

Generalized Anxiety Disorder and Depressive Symptoms among Pakistani Population during the Second Wave of the COVID-19 Pandemic: A Regression Analysis.

Over a span of 1 year, with millions infected, COVID-19 has spread to every part of the world and now poses a health threat to each and every one of us. The outbreak has consequently resulted in multiple health problems such as stress, anxiety, depressive symptoms, insomnia, panic, and denial globally. Several factors have contributed to this rising number of psychiatric consults all over the world. The primary objective of this study was to investigate the impact of COVID-19 pandemic on the mental health of Pakistani population during the second wave of the pandemic in this region. We conducted an online web-based cross-sectional survey comprising 500 participants. The questionnaire assessed the demographic information, attitude, and knowledge concerning COVID-19 outbreak in addition to generalized anxiety disorder (GAD) utilizing the GAD-7 scale and depressive symptoms using the Center for Epidemiology Scale for Depression (CES-D) scale. The response rate of the study was 90.9%. The results of the survey indicated a prevalence of 25.4% of GAD, and 18.8% of depressive symptoms. Furthermore, nearly 34.8% of participants feared contracting COVID-19, 62.8% obtained constant critical updates regarding COVID-19, while 17.6% did not understand the knowledge regarding COVID-19. In the multivariate regression models, GAD was significantly associated with gender, age, and checking constantly of critical updates regarding COVID-19. Similarly, participants under 30 years had a higher risk of developing depressive symptoms than those above (> 30 years). Lastly, participants with no formal education were also found to be more prone to developing depression. We identified a potential threat to mental health during the pandemic.