An Online Pediatric Palliative Care Education and Mentoring (Project ECHO) in Nepal: A Program Implementation Case Study and Assessment of Changes in Healthcare Providers' Knowledge, Confidence, and Attitudes.

Objectives: The goal of this implementation study was to describe the implementation and evaluation of the impact of an online pediatric palliative care training program in Nepal, using the Project ECHO model.

Methods: The study used mixed methods, including a program case study describing the online learning program and before-and-after surveys of program participants, assessing learning through changes in knowledge, comfort, and attitudes. An end-of-program survey was used to evaluate participants' overall experiences with the learning program and use of the learning resources.

Using Virtual Learning to Develop Palliative Care Skills Among Humanitarian Health Workers in the Rohingya Refugee Response in Bangladesh.

Background: Palliative care is an essential component of health responses in humanitarian settings, yet it remains largely unavailable in these settings, due to limited availability of palliative care training for healthcare professionals. Online training programs which connect experts to clinicians in the field have been proposed as an innovative strategy to build palliative care capacity humanitarian settings.

Objective: To describe the implementation and evaluate the impact of delivering palliative care education using an established virtual learning model (Project ECHO) for healthcare clinicians working in the Rohingya refugee response in Bangladesh.

interRAI Pediatric Home Care (PEDS-HC) Assessment Tool: Evaluating Ontario Healthcare Workers' Experience.

High quality pediatric homecare requires comprehensive assessment of the needs, supports, and health care challenges of children with special healthcare needs and their families. There is no standardized homecare assessment system to evaluate children's clinical needs in the home (support services, equipment, etc.) in Ontario, Canada, which contributes to inequitable homecare service allocation.

Providing Home-Based Support for Children with Chronic Conditions in an Urban Slum: Experiences from a Community-Based Palliative Care Program in Bangladesh.

We describe the palliative care needs of children with chronic conditions and their caregivers in an urban slum in Bangladesh. In this cross-sectional study, we interviewed 25 caregivers whose children receive support from a community-based program lead by community health workers, that provides medication, medical supplies, food, caregiver training, and psychological support free of charge. The chronic conditions of children in the program included cerebral palsy (80%), congenital heart disease (8%), neurodegenerative conditions (4%), cancer (4%), and intellectual disabilities (4%).

Dystonin loss-of-function leads to impaired autophagosome-endolysosome pathway dynamics.

The neuronal dystonin protein (DST-a) is a large cytoskeletal linker important for integrating the various components of the cytoskeleton. Recessive mutations lead to a sensory neuropathy in mice, known as dystonia musculorum (). The disease is characterized by ataxia, autonomic disturbances, and ultimately, death, which are associated with massive degeneration of the sensory neurons in the dorsal root ganglion (DRG).

HSAN-VI: A spectrum disorder based on dystonin isoform expression.

Hereditary sensory and autonomic neuropathy (HSAN-VI) is a recessive genetic disorder that arises because of mutations in the human dystonin gene (, previously known as ). Although initial characterization of HSAN-VI reported it as a sensory neuropathy that was lethal in infancy, we now know of a number of heterozygous mutations in that result in milder forms of the disease. Akin to what we observe in the mouse model ( ), we believe that the heterogeneity of HSAN-VI can be attributed to a number of dystonin isoforms that the mutation affects.

Characterization of gastrointestinal pathologies in the dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI.

Background: Dystonia musculorum (Dst ) is a murine disease caused by recessive mutations in the dystonin (Dst) gene. Loss of dorsal root ganglion (DRG) sensory neurons, ataxia, and dystonic postures before death by postnatal day 18 (P18) is a hallmark feature. Recently we observed gas accumulation and discoloration in the small intestine and cecum in Dst mice by P15.

Dystonin-A3 upregulation is responsible for maintenance of tubulin acetylation in a less severe dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI.

Hereditary sensory and autonomic neuropathy type VI (HSAN-VI) is a recessive human disease that arises from mutations in the dystonin gene (DST; also known as Bullous pemphigoid antigen 1 gene). A milder form of HSAN-VI was recently described, resulting from loss of a single dystonin isoform (DST-A2). Similarly, mutations in the mouse dystonin gene (Dst) result in severe sensory neuropathy, dystonia musculorum (Dstdt).

Cytoskeletal Linker Protein Dystonin Is Not Critical to Terminal Oligodendrocyte Differentiation or CNS Myelination.

Oligodendrocyte differentiation and central nervous system myelination require massive reorganization of the oligodendrocyte cytoskeleton. Loss of specific actin- and tubulin-organizing factors can lead to impaired morphological and/or molecular differentiation of oligodendrocytes, resulting in a subsequent loss of myelination. Dystonin is a cytoskeletal linker protein with both actin- and tubulin-binding domains.

Functional and Genetic Analysis of Neuronal Isoforms of BPAG1.

The neuronal isoforms of bullous pemphigoid antigen 1 (BPAG1, and also known as dystonin) are a group of large cytoskeletal linker proteins predominantly expressed in sensory neurons. The major neuronal isoforms consist of the spectraplakins (BPAG1/dystonin-a1, -a2, -a3), which have an N-terminus actin-binding domain and a C-terminus microtubule-binding domain. These proteins have crucial roles in cytoskeletal organization and stability, organelle integrity, and intracellular transport.

Disruption in the autophagic process underlies the sensory neuropathy in dystonia musculorum mice.

A homozygous mutation in the DST (dystonin) gene causes a newly identified lethal form of hereditary sensory and autonomic neuropathy in humans (HSAN-VI). DST loss of function similarly leads to sensory neuron degeneration and severe ataxia in dystonia musculorum (Dst(dt)) mice. DST is involved in maintaining cytoskeletal integrity and intracellular transport.

Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI.

A newly identified lethal form of hereditary sensory and autonomic neuropathy (HSAN), designated HSAN-VI, is caused by a homozygous mutation in the bullous pemphigoid antigen 1 (BPAG1)/dystonin gene (DST). The HSAN-VI mutation impacts all major neuronal BPAG1/dystonin protein isoforms: dystonin-a1, -a2 and -a3. Homozygous mutations in the murine Dst gene cause a severe sensory neuropathy termed dystonia musculorum (dt).