Genotype-Phenotype Correlation of Distal 2q37 Deletions.

Brachydactyly mental retardation syndrome (BDMR) typically results from large deletions (>2-9 Mb) in distal 2q37. Haploinsufficiency of HDAC4 with incomplete penetrance has been proposed as the primary genetic cause of BDMR. To date, pure 2q37 deletions distal to HDAC4 were reported only in a limited number of individuals who share a subset of the clinical manifestations seen in cases with 2q37 deletions encompassing HDAC4.

Connecting lived experiences of pre-nursing students during COVID-19 with learner well-being: A qualitative inquiry.

Aim: To explore pre-nursing students' experiences and identify factors influencing their well-being as learners during COVID-19.

Design: A qualitative descriptive design was used.

Methods: Short answer study data (n = 289) were collected in Fall 2020 as part of a larger IRB-approved survey-based study focused on pre-nursing students.

Effects of genetic counselor disabilities on their professional experiences: A qualitative investigation of North American counselors' perceptions.

The National Society of Genetic Counselors' policies recognize the value of diversity in the profession. Yet North American genetic counselors are very homogeneous with respect to self-identified disabilities. One step towards diversifying the profession is understanding the experiences of genetic counselors who have disabilities.

Non-homologous use of adipose-derived cell and tissue therapies: Osteoarthritis as a case study.

Adipose tissue is widely recognized as an abundant and accessible human tissue that serves as a source of cells and extracellular matrix scaffolds for regenerative surgical applications. Increasingly, orthopedic surgeons are turning to adipose tissue as a resource in their treatment of osteoarthritis and related conditions. In the U.

Cryoneurolysis to treat the pain and symptoms of knee osteoarthritis: a multicenter, randomized, double-blind, sham-controlled trial.

Objective: Evaluate the efficacy and safety/tolerability of cryoneurolysis for reduction of pain and symptoms associated with knee osteoarthritis (OA).

Design: Randomized, double-blind, sham-controlled, multicenter trial with a 6-month follow-up in patients with mild-to-moderate knee OA. Patients were randomized 2:1 to cryoneurolysis targeting the infrapatellar branch of the saphenous nerve (IPBSN) or sham treatment.

Management Education in Public Health: Further Considerations Comment on "Management Matters: A Leverage Point for Health Systems Strengthening in Global Health".

Knowing and applying the basic management functions of planning, organizing, staffing, directing, and controlling, as well as their permutations and combinations, are vital to effective delivery of public health services. Presently, graduate programs that prepare public health professionals neither emphasize teaching management theory, nor its application. This deficit puts those who become managers in public health and those they serve at a distinct disadvantage.

Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons.

Striatal dysfunction plays an important role in dystonia, but the striatal cell types that contribute to abnormal movements are poorly defined. We demonstrate that conditional deletion of the DYT1 dystonia protein torsinA in embryonic progenitors of forebrain cholinergic and GABAergic neurons causes dystonic-like twisting movements that emerge during juvenile CNS maturation. The onset of these movements coincides with selective degeneration of dorsal striatal large cholinergic interneurons (LCI), and surviving LCI exhibit morphological, electrophysiological, and connectivity abnormalities.

Assistance in dying: part I. Europe--the vanguard.

This Nexus provides background information about assistance in dying. The international perspective based on developments in Western Europe, especially the Netherlands, provides a useful context in which to place events in the United States. Part II considers the history and legal context of assistance in dying in the United States.

The "new" medical malpractice crisis--part 1.

It is important to put the current medical malpractice crisis into the historical context of the past several decades. Doing so provides an important perspective from which to understand the current iteration. One may reasonably conclude that the present medical malpractice situation is only the latest outbreak of a continuing, chronic condition, rather than a distinct, unusual event.