Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care.

Background: Delays in diagnosing rare genetic disorders often arise due to limited awareness and systemic challenges in primary care. This case highlights the importance of a holistic approach to patient care, encompassing timely detection and comprehensive evaluation of clinical features.

Methods: We report the case of a 21-year-old Ecuadorian male with facial and hand dysmorphias, cardiomegaly, pulmonary hypertension, and patent ductus arteriosus (PDA).

Incidental Diagnosis of Occult Maternal Malignancy With Routine Noninvasive Prenatal Testing During Pregnancy.

The noninvasive prenatal test (NIPT) for genetic screening has been adopted globally as an alternative to first-trimester and quad screening due to its high sensitivity and specificity. NIPT involves detecting and processing foreign fetal DNA in maternal circulation to screen for fetal aneuploidy. An incidental consequence of this process is the detection of foreign tumor cell DNA in maternal circulation in otherwise asymptomatic patients.

Distal Access Catheter Improves Balloon Guide and Stent Retriever Thrombectomy Outcomes in Nonagenarians.

Background And Purpose: The safety and effectiveness of endovascular techniques in elderly patients with large vessel occlusion (LVO) remain controversial. We investigated the angiographic and clinical outcomes of nonagenarians treated with different endovascular techniques using a balloon guide catheter (BGC), distal aspiration catheter (DAC), and/or stent retriever (SR).

Methods: We analyzed the data from the Registry of Combined versus Single Thrombectomy Techniques (ROSSETTI) of consecutive nonagenarian patients with anterior circulation LVO and compared the outcomes of those treated with BGC+noDAC+SR (101-group), BGC+DAC+SR (111-group), and noBGC+DAC+SR (011-group).

Impact of using bitewing radiographs alone or in combination with clinical information on treatment decisions.

The combination of different methods has been advocated to increase sensitivity in detecting secondary caries lesions. This cross-sectional study compared the detection of caries lesions around posterior restorations and treatment decisions using bitewing radiographs alone or in combination with clinical information from patient records. The radiographs (n = 212) were randomly distributed into two sequences for assessment across two phases, with a wash-out period of two weeks.