Ostium primum atrial septal defect with persistent left superior vena cava opening into unroofed coronary sinus—A rare entity

Raghib syndrome is a rare developmental complex consisting of termination of the left superior vena cava in the left atrium, absence of the coronary sinus, and an atrial septal defect commonly located at the posterior‐inferior angle of the atrial septum. This complex was considered unique to Raghib syndrome; however, cases with a normal atrial septum have been reported where the orifice of the unroofed coronary sinus functions as the inter‐atrial communication. Our patient demonstrated an isolated persistent left superior vena cava draining into the left atrium through unroofed coronary sinus and presence of ostium primum atrial septal defect.     

Evaluating the Cost-Effectiveness of Hydrogel Rectal Spacer in Prostate Cancer Radiation Therapy

Purpose

A hydrogel rectal spacer (HRS) is a medical device that is approved by the U.S. Food and Drug Administration to increase the separation between the prostate and rectum. We conducted a cost-effectiveness analysis of HRS use for reduction in radiation therapy (RT) toxicities in patients with prostate cancer (PC) undergoing external beam RT (EBRT).

Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases

Indian Journal of Pediatrics - To report a phenotypic series of eight patients of Beckwith-Wiedemann Syndrome (BWS) with abnormalities of 11p15.5 region to highlight the spectrum of phenotypic...     

Relative Prevalence and Outcome of Fetal Neural Tube Defect in a Developing Country

Objectives

To find out the relative prevalence of fetal neural tube defect (NTD) and its outcome in terms of survival at birth and beyond 2 years of age.

Methods

A 10-year prospective (2008–2018) observational study was performed, which included all prenatally detected fetal NTD. Two-year follow-up was done in cases of pregnancies resulting in live birth, in terms of their survival, physical morbidity and developmental delay.

Results

NTD was seen in 401/648 (62%) cases among the central nervous system malformations. More than half of the cases (54.1%) presented after 20 weeks of gestation, and 42.8% of the mothers were primiparous. Spina bifida was seen in 206 cases, anencephaly in 144, encephalocele in 43, whereas iniencephaly was seen in only eight cases. Associated anomalies were present in 51.2%. Only 19.0% cases were live-born, and merely 11% were alive beyond 2 years of age. Among types of spina bifida, lumbosacral meningomyocele was the most common (41.6%), whereas thoracic was the rarest (8.7%). After 2 years, physical disability was observed in more than half of the cases who survived.

Conclusions

NTD is one of the commonest malformations with high mortality, and the physical and mental sub-normality is high among those who survive.

     

Association between personality and tau-PET binding in cognitively normal older adults

Personality traits such as Neuroticism and Conscientiousness are associated with Alzheimer disease (AD) pathophysiology in cognitively normal (CN) and impaired individuals, and may represent potential risk or resilience factors, respectively. This study examined the cross-sectional relationship between personality traits and regional tau deposition using positron emission tomography (PET) in cognitively normal older adults. A cohort of CN (Clinical Dementia Rating (CDR) 0, n =?128) older adults completed the NEO Five-Factor Inventory to assess traits of Neuroticism, Extroversion, Openness, Agreeableness, and Conscientiousness and underwent tau-PET and β-amyloid (Aβ)-PET imaging. We utilized linear regression models, adjusting for age, sex, geriatric depression score, and Aβ to evaluate the association between each of the personality traits and regional tau-PET accumulation. Elevated Neuroticism scores were associated with higher tau-PET accumulation in the amygdala (p =?.002), entorhinal cortex (p =?.012), and inferior temporal cortex (p =?.016), as well as with a composite tau-PET measure (p =?.002). In contrast, Extroversion, Openness, Agreeableness, and Conscientiousness were not associated with tau deposition in any of these regions (p’s?>?0.160). Our results indicate that increased Neuroticism is associated with higher tau pathophysiology in regions known to be vulnerable to AD pathophysiology in CN participants. High Neuroticism scores may therefore serve as a potential risk factor for tau accumulation. Alternatively, personality can change with the onset of AD, thus increased tau levels may affect Neuroticism scores. While future longitudinal studies are needed to determine directionality, our findings suggest early associations between Neuroticism and tau accumulation in CN adults.