Cancer Sample Analysis Utilizing Single-Nucleotide Polymorphism Array and Array Comparative Genomic Hybridization.

Chromosomal microarray, including single-nucleotide polymorphism (SNP) array and array comparative genomic hybridization (aCGH), enables the detection of DNA copy-number loss and/or gain associated with unbalanced chromosomal aberrations. In addition, SNP array and aCGH with SNP component also detect copy-neutral loss of heterozygosity (CN-LOH). Here we describe the chromosomal microarray procedure from the sample preparation using extracted DNA to the scanning of the array chip.

Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Myotonic dystrophy type 1 (DM1) is a form of muscular dystrophy causing progressive muscle loss and weakness. Although clinical features can manifest at any age, it is the most common form of muscular dystrophy with onset in adulthood. DM1 is an autosomal dominant condition, resulting from an unstable CTG expansion in the 3'-untranslated region of the myotonic dystrophy protein kinase (DMPK) gene.

Proof-of-concept for a novel nanotechnology-based treatment for urolithiasis.

Proof-of-concept of photonic lithotripsy in an in vitro setting and its ability to fragment the most common stone types is demonstrated. Effectiveness of different classes of photonic nanoparticles in fragmenting human stones is assessed. De-identified human stones were collected after institutional approval.

Photonic Lithotripsy: Near-Infrared Laser Activated Nanomaterials for Kidney Stone Comminution.

Near-infrared activated nanomaterials have been reported for biomedical applications ranging from photothermal tumor destruction to biofilm eradication and energy-gated drug delivery. However, the focus so far has been on soft tissues, and little is known about energy delivery to hard tissues, which have thousand-fold higher mechanical strength. We present photonic lithotripsy with carbon and gold nanomaterials for fragmenting human kidney stones.

Cephalomedullary blade cut-ins: a poorly understood phenomenon.

Objectives: Proximal femoral nail antirotation (PFNA) cut-in is a unique phenomenon seen in pertrochanteric hip fractures treated with the PFNA. Cut-in refers to the superomedial migration of the proximal femoral blade into the femoral head and hip joint. We recognize that cut-in is a completely separate entity from the well-described cut-out failure.

Lineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome.

The aortic root is the predominant site for development of aneurysm caused by heterozygous loss-of-function mutations in positive effectors of the transforming growth factor-β (TGF-β) pathway. Using a mouse model of Loeys-Dietz syndrome (LDS) that carries a heterozygous kinase-inactivating mutation in TGF-β receptor I, we found that the effects of this mutation depend on the lineage of origin of vascular smooth muscle cells (VSMCs). Secondary heart field-derived (SHF-derived), but not neighboring cardiac neural crest-derived (CNC-derived), VSMCs showed impaired Smad2/3 activation in response to TGF-β, increased expression of angiotensin II (AngII) type 1 receptor (Agtr1a), enhanced responsiveness to AngII, and higher expression of TGF-β ligands.

Moderately Elevated Homocysteine Does Not Contribute to Thoracic Aortic Aneurysm in Mice.

Moderate hyperhomocysteinemia is an attractive target for intervention because it is present in 5-7% of the population and can be reversed by diet. This approach presupposes that hyperhomocysteinemia is directly involved in the disease process. Epidemiologic studies have indicated that moderately elevated homocysteine may contribute to thoracic aortic aneurysm (TAA) dilatation and dissection in humans.

Tissue engineering for bone regeneration and osseointegration in the oral cavity.

Objective: The focus of this review is to summarize recent advances on regenerative technologies (scaffolding matrices, cell/gene therapy and biologic drug delivery) to promote reconstruction of tooth and dental implant-associated bone defects.

Methods: An overview of scaffolds developed for application in bone regeneration is presented with an emphasis on identifying the primary criteria required for optimized scaffold design for the purpose of regenerating physiologically functional osseous tissues. Growth factors and other biologics with clinical potential for osteogenesis are examined, with a comprehensive assessment of pre-clinical and clinical studies.

Bisphosphonate uptake in areas of tooth extraction or periapical disease.

Purpose: Bisphosphonates (BPs) are widely used for the management of bone diseases such as osteoporosis and bone malignancy. However, osteonecrosis of the jaws (ONJ) is a serious complication of BP treatment. ONJ lesions mainly occur after extraction of teeth deemed unrestorable or around teeth with active periodontal or periapical disease.

Diverse osteoclastogenesis of bone marrow from mandible versus long bone.

Background: Mandibles (MB) and maxillae possess unique metabolic and functional properties and demonstrate discrete responses to homeostatic, mechanical, hormonal, and developmental stimuli. Osteogenic potential of bone marrow stromal cells (BMSCs) differs between MB versus long bones (LB). Furthermore, MB- versus LB-derived osteoclasts (OCs) have disparate functional properties.