Acute limb ischemia secondary to bullet embolism following a cardiac gunshot wound in a pediatric patient.

Bullet embolism following a gunshot wound to the heart is a very unusual cause of acute limb ischemia. We report the case of a 3-year-old boy who sustained a penetrating cardiac trauma secondary to an accidental self-inflicted gunshot wound with a BB (ball bearing) gun. The BB pellet entered the left ventricle and embolized into the peripheral circulation, lodging at the bifurcation of the left common femoral artery.

Three-dimensional Analysis of Facial Asymmetry in Unilateral Lambdoid Craniosynostosis.

Objective: Unilateral lambdoid synostosis (ULS) is characterized by occipital flattening, mastoid bulging, and contralateral parietal bossing. Anterior craniofacial features are less well-defined. This study utilizes volumetric, craniometric, and composite heat maps of three-dimensional (3D) rendered CT scans to analyze anterior craniofacial asymmetry in ULS and compared to controls.

Mitochondrial clearance and maturation of autophagosomes are compromised in LRRK2 G2019S familial Parkinson's disease patient fibroblasts.

This study utilized human fibroblasts as a preclinical discovery and diagnostic platform for identification of cell biological signatures specific for the LRRK2 G2019S mutation producing Parkinson's disease (PD). Using live cell imaging with a pH-sensitive Rosella biosensor probe reflecting lysosomal breakdown of mitochondria, mitophagy rates were found to be decreased in fibroblasts carrying the LRRK2 G2019S mutation compared to cells isolated from healthy subject (HS) controls. The mutant LRRK2 increased kinase activity was reduced by pharmacological inhibition and targeted antisense oligonucleotide treatment, which normalized mitophagy rates in the G2019S cells and also increased mitophagy levels in HS cells.

Neurite Collapse and Altered ER Ca Control in Human Parkinson Disease Patient iPSC-Derived Neurons with LRRK2 G2019S Mutation.

The Parkinson disease (PD) genetic LRRK2 gain-of-function mutations may relate to the ER pathological changes seen in PD patients at postmortem. Human induced pluripotent stem cell (iPSC)-derived neurons with the PD pathogenic LRRK2 G2019S mutation exhibited neurite collapse when challenged with the ER Ca influx sarco/ER Ca-ATPase inhibitor thapsigargin (THP). Baseline ER Ca levels measured with the ER Ca indicator CEPIA-ER were lower in LRRK2 G2019S human neurons, including in differentiated midbrain dopamine neurons in vitro.

The glycoprotein GPNMB is selectively elevated in the substantia nigra of Parkinson's disease patients and increases after lysosomal stress.

GPNMB is a glycoprotein observed upon tissue damage and inflammation and is associated with astrocytes, microglia, and macrophages. Gene variations in GPNMB are linked with Parkinson's disease (PD) risk, and changes in protein levels of GPNMB have been found in lysosomal storage disorders, including Gaucher's disease with glucocerebrosidase (GCase) deficiency. In the current study, GPNMB increases were seen in the substantia nigra (SN) of PD patients compared to age-matched controls.

Hereditary multiple exostoses as a novel cause of bilateral popliteal artery aneurysms in the elderly.

Hereditary multiple exostoses (HME) is a genetic condition characterized by the development of multiple osteochondromas during childhood and adolescence. On rare occasions, these bony tumors can be associated with vascular injury, most commonly involving the popliteal artery. Such patients typically present with vascular complications in adolescence and young adulthood.