Duane retraction syndrome associated with variant of Rubinstein-Taybi syndrome.

Purpose: This case report describes a child with Duane retraction syndrome (DRS) associated with genetically confirmed Type II Rubinstein-Taybi syndrome (RTS). The purpose is to better understand the ocular manifestations of RTS and further explore the possibility that the neurodevelopmental genetic abnormality in RTS may sporadically impact ocular motor nerves.

Observations: A 2-year-old male with a history of Type II RTS associated with a de novo variant of presented for a comprehensive eye examination, which revealed a left esotropia of 20 prism diopters (PD) in primary gaze with a significant left face turn, mild globe retraction on adduction in the left eye, and abduction limitation consistent with Type 1 DRS in the left eye.

Rare occurrence of triple primary malignant tumors: Dermatofibrosarcoma protuberans, lung adenocarcinoma and papillary thyroid carcinoma in a patient with genetic evaluation.

Triple primary malignancies are rare, involving the occurrence of three distinct, unrelated cancers in a single patient, requiring a personalized, multidisciplinary treatment approach. A 69-year-old male was diagnosed with dermatofibrosarcoma protuberans (DFSP), lung adenocarcinoma, and papillary thyroid carcinoma. After amputation for DFSP, following staging and genetic evaluation, a multidisciplinary tumor board designed a tailored treatment plan, adjuvant chemotherapy for lung adenocarcinoma while monitor regularly the thyroid carcinoma via ultrasound.

A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures.

PPP2R5C encodes a B-type regulatory subunit of protein phosphatase 2A (PP2A). This protein serine/threonine phosphatase is a component of multiple signaling pathways and is an established negative regulator of cell division, growth and proliferation. De novo variants in other subunits of protein phosphatase 2A are associated with neurodevelopment disorders and intellectual disability.

Assessing the impact of individual exposure to air pollution via biomarkers in sputum of children in Ho Chi Minh city, Vietnam.

Understanding the impact of exposure to air pollution on children's health is critical for developing effective child health protection policies. Alveolar macrophage black carbon (AMBC) provides an indicator of personal exposure to air pollution. Hence, we aimed to examine air pollution exposure and its effects on children by measuring AMBC area and inflammatory cytokines in sputum.

Endovascular occlusion of vertebro-vertebral arteriovenous fistula using detachable balloons: A case report.

Vertebro-vertebral arteriovenous fistula (VV-AVF) is an uncommon vascular disorder characterized by an abnormal direct connection between the extracranial vertebral artery (VA), as well as the first and second branches of subclavian arteries, and the draining veins of the paravertebral venous plexus. Endovascular occlusion or surgical ligation of the high-flow arteriovenous fistula is the main goal of treatment for VV-AVF, but there are no guidelines for the best treatment to date. Endovascular treatment is the primary treatment procedure due to its safety, effectiveness, and simplicity.