Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing.

Here we present a case of an asymptomatic 53-year-old woman who sought genetic testing for Familial Creutzfeldt-Jakob Disease (fCJD) after learning that her mother had fCJD. The patient's mother had a sudden onset of memory problems and rapidly deteriorating mental faculties in her late 70s, which led to difficulties ambulating, progressive non-fluent aphasia, dysphagia and death within ∼1 y of symptom onset. The cause of death was reported as "rapid onset dementia.

Spinocerebellar ataxia 15: A phenotypic review and expansion.

Spinocerebellar ataxia 15 (SCA15) is a clinically heterogeneous movement disorder characterized by the adult onset of slowly progressive cerebellar ataxia. ITPR1 is the SCA15 causative gene. However, despite numerous reports of genetically-confirmed SCA15, phenotypic uncertainty persists.

Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder.

Unlabelled: Objective. To describe the use of an advanced genetic testing technique, whole exome sequencing, to diagnose a patient and their family with a SCN9A channelopathy. Setting.

Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C).

Dysferlinopathy is an uncommon, progressive muscular dystrophy that has a wide phenotypic variability and primarily supportive management (Nguyen et al., 2007; Narayanaswami et al., 2014).

A Systematic Review on Interventions Supporting Preceptor Development.

Increases in newly licensed nurses and experienced nurses changing specialties create a challenge for nursing professional development specialists (NPDS). The NPDS must use the best available evidence in designing programs. A systematic review of interventions for developing preceptors is needed to inform the NPDS in best practice.

Whole exome sequencing of a patient with metastatic hidradenocarcinoma and review of the literature.

Hidradenocarcinoma is a rare malignancy of the sweat glands with only a few cases reported in literature. The management of these tumors is based on the extent of disease with local disease managed with surgical resection. These can tumors carry a high potential of lymphatic and vascular spread and local and distant metastases are not uncommon.

Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.

Complex neurologic phenotypes are inherently difficult to diagnose. Whole-exome sequencing (WES) is a new tool in the neurologist's diagnostic armamentarium. Whole-exome sequencing can be applied to investigate the "diagnostic odyssey" cases.

Transitional orientation: a cost-effective alternative to traditional RN residency programs.

Recruitment, orientation, and development costs, particularly for inexperienced RNs, challenge hospitals to find cost-effective methods to assure patients receive competent nursing care. Nurse leaders at the Lee Memorial Health System (LMHS) initiated a multifaceted development methodology called the Transitional Orientation Program, designed to develop and retain competent RNs. To assist in the intensive development needs required by the transitional unit interns and for other inexperienced RNs assigned initially to their unit of hire, LMHS established new clinical educator positions called intern development specialists (IDS).