Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy.

Background And Objectives: Omigapil is a small molecule which inhibits the GAPDH-Siah1-mediated apoptosis pathway. Apoptosis is a pathomechanism underlying the congenital muscular dystrophy subtypes LAMA2-related dystrophy (LAMA2-RD) and COL6-related dystrophy (COL6-RD). Studies of omigapil in the (dy/dy) LAMA2-RD mouse model demonstrated improved survival, and studies in the (dy/dy) LAMA2-RD mouse model and the (Col6a1) COL6-RD mouse model demonstrated decreased apoptosis.

Simple and economical HandClench Relaxometer device for reliable and sensitive measurement of grip myotonia in myotonic dystrophy.

Grip myotonia and weakness are attractive treatment response biomarkers in clinical trials of myotonic dystrophy type 1 (DM1). There is a need to develop simple, patient-friendly and reproducible methods of quantifying grip myotonia in multisite trial settings. We designed a HandClench Relaxometer (HCR) that measures grip myotonia and strength.

Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study.

Purpose: To evaluate the safety and efficacy of N-acetylmannosamine (ManNAc) in GNE myopathy, a genetic muscle disease caused by deficiency of the rate-limiting enzyme in N-acetylneuraminic acid (Neu5Ac) biosynthesis.

Methods: We conducted an open-label, phase 2, single-center (NIH, USA) study to evaluate oral ManNAc in 12 patients with GNE myopathy (ClinicalTrials.gov NCT02346461).

Characterizing upper limb function in the context of activities of daily living in CLN3 disease.

In CLN3 disease, impairments in motor function are frequently reported to have later onset compared to visual and cognitive decline, but upper limb motor function has yet to be explored in this population. In a cohort of 22 individuals with CLN3, we used a novel application of multiple measures to (1) characterize motor function, particularly of the upper limbs, in activities of daily living (ADLs), and (2) explore associations between motor function and age as well as visual ability, disease severity, and cognitive function, as evaluated by the Unified Batten Disease Rating Scale (UBDRS), a validated CLN3 disease measure. ADLs that required coordination, speed, and fine motor control were particularly challenging for children with CLN3 based on item-level performance across direct assessments (Jebsen-Taylor Hand Function Test [JTHFT] and MyoSet Tools) and caregiver reports (Pediatric Evaluation of Disability Inventory-Computer Adaptive Testing [PEDI-CAT] and Patient-Reported Outcomes Measurement Information System [PROMIS] Pediatric Upper Extremity).

Lessons and Outcomes of Mobile Acute Care for Elders Consultation in a Veterans Affairs Medical Center.

Objective: Describe the implementation and effects of Mobile Acute Care for Elders (MACE) consultation at a Veterans Affairs Medical Center (VAMC).

Design: Retrospective cohort analysis.

Intervention: Veterans aged 65 or older who were admitted to the medicine service between October 1, 2012, and September 30, 2014, were screened for geriatric syndromes via review of medical records within 48 hours of admission.

Psychosocial Characteristics of Women with a Delayed Diagnosis of Turner Syndrome.

Objectives: To characterize the psychosocial profiles of adult women diagnosed with Turner syndrome before (early diagnosis) and at or after (late diagnosis) 13 years of age.

Study Design: Women with Turner syndrome ages 22 and older at evaluation (n = 110) participated in a cross-sectional study at the National Institutes of Health. Researchers performed nonparametric and logistic regression analyses to assess early and late diagnosis cohorts on measures of depression, substance use, and perceptions of competence and identity.

Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy.

Congenital muscular dystrophy (CMD) comprises a rare group of genetic muscle diseases that present at birth or early during infancy. Two common subtypes of CMD are collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). Traditional outcome measures in CMD include gross motor and mobility assessments, yet significant motor declines underscore the need for valid upper extremity motor assessments as a clinical endpoint.

Brief assessment of motor function: content validity and reliability of the upper extremity gross motor scale.

Content validity and reliability of the Brief Assessment of Motor Function (BAMF) Upper Extremity Gross Motor Scale (UEGMS) were evaluated in this prospective, descriptive study. The UEGMS is one of five BAMF ordinal scales designed for quick documentation of gross, fine, and oral motor skill levels. Designed to be independent of age and diagnosis, it is intended for use for infants through young adults.

Differences in activities of daily living performance between long-term pediatric sarcoma survivors and a matched comparison group on standardized testing.

Background: In a cross-sectional study examining late effects of pediatric sarcoma therapy, long-term survivors were evaluated on their activities of daily living (ADL) performance.

Procedure: Thirty-two persons with Ewing sarcoma family of tumors, rhabdomyosarcoma, and non-rhabdomysarcoma-soft tissue sarcoma enrolled an average of 17 years after treatment. Participants were evaluated using the Assessment of Motor and Process Skills (AMPS) 1, a standardized observational evaluation of ADL task performance.

Brief assessment of motor function: content validity and reliability of the oral motor scales.

Objective: The Brief Assessment of Motor Function consists of five 0- to 10-point hierarchical scales designed for rapid assessment of gross, fine, and oral motor skills. We describe the development and evaluation of the two Brief Assessment of Motor Function Oral Motor Scales: Oral Motor Articulation and Oral Motor Deglutition.

Design: This validation study employed an expert panel of 28 speech-language pathologists, who rated the Brief Assessment of Motor Function Oral Motor Scales items on a scale from 1 to 4 (disagree to agree) to establish content validity.

Brief assessment of motor function: content validity and reliability of the fine motor scale.

Purpose: The Brief Assessment of Motor Function Fine Motor Scale (FMS) allows rapid assessment, independent of age. This study was done to establish content validity of the FMS and to demonstrate FMS reliability.

Methods: A standard questionnaire ("Disagree" to "Agree," 1-4) was emailed to 28 expert panel members.

Functional outcomes and life satisfaction in long-term survivors of pediatric sarcomas.

Objectives: To describe the inter-relationships among impairments, performance, and disabilities in survivors of pediatric sarcoma and to identify measurements that profile survivors at risk for functional loss.

Design: Prospective, cross-sectional.

Setting: Research facility.

Motor Skill Development of Children with HIV Infection Measured with the Peabody Developmental Motor Scales.

Purpose: Improved health care for pregnant women who are HIV+has minimized complications during delivery and resulted in a measurable cohort of children entering the health care system who are HIV+ with potential for motor disorders. This study was designed to determine how gross and fine motor skills were affected by HIV infection in children aged five years and younger using the Peabody Developmental Motor Scales, and to follow a subsample of these children for one and a half years to determine if their relative skill performances changed over time.

Methods: A sample of 143 children who were HIV+ was evaluated using the Peabody Developmental Motor Scales for their gross and fine motor skills.

Changes in neurologic function tests may predict neurotoxicity caused by ixabepilone.

Purpose: To investigate baseline factors and neurologic function tests (NFTs) that may predict the development of grade 2 or higher peripheral neuropathy (PN) after treatment with ixabepilone, an epothilone microtubule-stabilizing agent with antitumor activity.

Patients And Methods: Advanced breast cancer patients were treated with ixabepilone (6 mg/m2) for 5 consecutive days every 3 weeks in a phase II clinical trial. Physical examinations, questionnaires, nerve conduction studies, and NFTs, including the Jebsen Test of Hand Function (JTH) and the Grooved Pegboard Test (GPT), were performed at baseline and during subsequent cycles.

Treatment late effects in long-term survivors of pediatric sarcoma.

Purpose: To assess health and musculoskeletal function in survivors of pediatric sarcomas.

Patients And Methods: Thirty-two individuals treated for Ewing sarcoma family of tumors (ESFT), rhabdomyosarcoma (RMS), or non-rhabdomyosarcoma soft tissue sarcomas (NR-STS) with multi-modality therapy were enrolled on this cross-sectional study. Median age at the time of therapy was 15.