Amplicon Sequencing Minimal Information (ASqMI): Quality and Reporting Guidelines for Actionable Calls in Biodefense Applications.

Background: Accurate, high-confidence data is critical for assessing potential biothreat incidents. In a biothreat event, false-negative and -positive results have serious consequences. Worst case scenarios can result in unnecessary shutdowns or fatalities at an exorbitant monetary and psychological cost, respectively.

Long-term outcome of hamstring lengthening versus transfer and the role of biceps femoris lengthening in patients with spastic diplegia and dynamic knee flexion in gait.

Background: Orthopedic treatment of flexed-knee gait consists of hamstring lengthening along with surgery at other levels. Transfer of the semitendinosus (hamstring transfer) was introduced to avoid increase of anterior pelvic tilt as well as reduce risk of recurrence.

Methods: We retrospectively assessed children with spastic cerebral palsy and flexed-knee gait pre-operatively, 1 year post-operatively, and at a minimum of 7 years post-operatively.

A Longitudinal Study of Quantitative Muscle Strength and Functional Motor Ability in Ambulatory Boys with Duchenne Muscular Dystrophy.

Background: Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder, that is characterized by progressive muscle degeneration and loss of ambulation between 7-13 years of age. Novel pharmacological agents targeting the genetic defects and disease mechanisms are becoming available; however, corticosteroid (CS) therapy remains the standard of care.

Objective: The purpose of this longitudinal study was to elucidate the effect of CS therapy on the rate of muscle strength and gross motor skill decline in boys with DMD and assess the sensitivity of selected outcome measures.

Longitudinal changes in energy cost during walking in boys with Duchenne Muscular Dystrophy (DMD).

Background: In boys with DMD, muscle weakness progresses in a proximal to distal pattern, leading to compensatory gait strategies, including hyperlordosis and equinus, that increase energy cost and accelerate the loss of walking capacity.

Research Question: The purpose of this study was to determine the changes in the energy cost of walking that occur with disease progression and to determine the optimal normalization scheme for the longitudinal assessment of the energy cost of walking in boys with DMD.

Methods: Energy cost was assessed with the COSMED K4b.

Efficacy of corticosteroid in decreasing scoliosis and extending time to loss of ambulation in a single clinic: an effectiveness trial.

Purpose: Pharmacologic doses of corticosteroid (CS) have been shown to ameliorate the progression of Duchenne muscular dystrophy (DMD) preserving strength, pulmonary function and ambulation as well as reducing the incidence of scoliosis. However, there are serious side effects of CS, which may impact dose tolerance. The purpose of this study was to compare the magnitude of positive CS effects on patients in our clinic to those reported in the literature.

Respiratory Management of the Patient With Duchenne Muscular Dystrophy.

In 2010, Care Considerations for Duchenne Muscular Dystrophy, sponsored by the Centers for Disease Control and Prevention, was published in , and in 2018, these guidelines were updated. Since the publication of the first set of guidelines, survival of individuals with Duchenne muscular dystrophy has increased. With contemporary medical management, survival often extends into the fourth decade of life and beyond.

Longitudinal community walking activity in Duchenne muscular dystrophy.

Introduction: Natural history studies for Duchenne muscular dystrophy (DMD) have not included measures of community ambulation.

Methods: Step activity (SA) monitors quantified community ambulation in 42 boys (ages 4-16 years) with DMD with serial enrollment up to 5 years by using a repeated-measures mixed model. Additionally, data were compared with 10-meter walk/run (10mWR) speed to determine validity and sensitivity.

Hip kinetics during gait are clinically meaningful outcomes in young boys with Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is an X-linked genetic neuromuscular disorder characterized by progressive proximal to distal muscle weakness. The success of randomized clinical trials for novel therapeutics depends on outcome measurements that are sensitive to change. As the development of motor skills may lead to functional improvements in young boys with DMD, their inclusion may potentially confound clinical trials.

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

Although biallelic mutations in non-collagen genes account for <10% of individuals with osteogenesis imperfecta, the characterization of these genes has identified new pathways and potential interventions that could benefit even those with mutations in type I collagen genes. We identified mutations in FKBP10, which encodes the 65 kDa prolyl cis-trans isomerase, FKBP65, in 38 members of 21 families with OI. These include 10 families from the Samoan Islands who share a founder mutation.

A comparison of the changes in the energy cost of walking between children with cerebral palsy and able-bodied peers over one year.

For ambulatory children with cerebral palsy, the assessment of walking energy efficiency is utilized to determine functional changes following surgical, pharmacologic, or orthotic interventions. While the assessment of energy efficiency is considered a useful outcome tool, minimal information exists about the changes in energy efficiency over one year in children with cerebral palsy at different gross motor function classification system (GMFCS) levels and whether the patterns of change are similar to their able-bodied peers. The purpose of this study was to determine whether energy efficiency variables change similarly over one year in children with cerebral palsy by GMFCS level and whether they differ from their age-matched peers.

Single laboratory validation of a microsatellite marker-based method in tomato variety identification.

The objective of this study was to develop a systematic and flexible method for assembling multiplex simple sequence repeat marker panels for high-throughput genome analysis in the tomato, Solanum lycopersicum, for varietal identification and to demonstrate the technical viability of these genetic markers for use in the enforcement of U.S. Department of Agriculture marketing order-based identity preservation programs.

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.

Recessive mutations in the cartilage-associated protein (CRTAP), leucine proline-enriched proteoglycan 1 (LEPRE1) and peptidyl prolyl cis-trans isomerase B (PPIB) genes result in phenotypes that range from lethal in the perinatal period to severe deforming osteogenesis imperfecta (OI). These genes encode CRTAP (encoded by CRTAP), prolyl 3-hydroxylase 1 (P3H1; encoded by LEPRE1) and cyclophilin B (CYPB; encoded by PPIB), which reside in the rough endoplasmic reticulum (RER) and can form a complex involved in prolyl 3-hydroxylation in type I procollagen. CYPB, a prolyl cis-trans isomerase, has been thought to drive the prolyl-containing peptide bonds to the trans configuration needed for triple helix formation.

Clinical and genetic characterization of manifesting carriers of DMD mutations.

Manifesting carriers of DMD gene mutations may present diagnostic challenges, particularly in the absence of a family history of dystrophinopathy. We review the clinical and genetic features in 15 manifesting carriers identified among 860 subjects within the United Dystrophinopathy Project, a large clinical dystrophinopathy cohort whose members undergo comprehensive DMD mutation analysis. We defined manifesting carriers as females with significant weakness, excluding those with only myalgias/cramps.

Classification of the gait patterns of boys with Duchenne muscular dystrophy and their relationship to function.

Corticosteroids have recently been shown to reduce expected loss of muscle strength in patients with Duchenne muscular dystrophy and extend the time they can walk. We evaluated 43 boys with the condition to determine whether taking corticosteroids is associated with differences in gait pattern, gross motor skills, energy efficiency, and timed motor performance. We used the gait deviation index to quantify the degree of gait pathology and a single measure of gait quality.

Relationship between clinical outcome measures and parent proxy reports of health-related quality of life in ambulatory children with Duchenne muscular dystrophy.

In Duchenne muscular dystrophy, data directly linking changes in clinical outcome measures to patient-perceived well-being are lacking. This study evaluated the relationship between clinical outcome measures used in clinical trials of ambulatory Duchenne muscular dystrophy (Vignos functional grade, quantitative knee extension strength, timed functional performance measures, and gait velocity) and 2 health-related quality of life measures--the Pediatric Outcomes Data Collection Instrument and Pediatric Quality of Life Inventory-in 52 ambulatory Duchenne muscular dystrophy subjects and 36 controls. Those with the disease showed significant decrements in parent proxy-reported health-related quality of life measures versus controls across all domains.

Varus derotation osteotomy for the treatment of hip subluxation and dislocation in GMFCS level III to V patients with unilateral hip involvement. Follow-up at skeletal maturity.

Purpose: Hip displacement is common in children with cerebral palsy (CP). The risk of hip displacement is related to gross motor function level as graded with the Gross Motor Function Classification System (GMFCS). Most clinicians agree that surgical treatment is indicated for progressive hip subluxation in patients with CP.

Variability and minimum detectable change for walking energy efficiency variables in children with cerebral palsy.

For individuals with neuromuscular disorders, the assessment of walking energy efficiency is useful as a clinical outcome measure. Issues surrounding data collection methodology, normalization of the data, and variability and clinical utility of energy efficiency data preclude universal application. This study examined the variability and the clinical utility of velocity, energy efficiency index (EEI), gross cost, and net nondimensional cost (NNcost) in children and adolescents with spastic diplegic cerebral palsy (CP) in Gross Motor Function Classification System (GMFCS) levels I to III.

Orthopaedic manifestations of congenital myotonic dystrophy during childhood and adolescence.

Background: Congenital myotonic dystrophy (CMD) is a dominantly inherited disorder manifested in childhood by muscle weakness which can be profound at birth, but which progressively improves over the first few years. Congenital myotonic dystrophy represents the severe end of the spectrum of myotonic dystrophy, which in milder cases may not be diagnosed until adulthood. The goal of the study was to identify and quantitate the musculoskeletal deformities which may significantly affect the function of children with CMD.

Iliopsoas tenotomy at the lesser trochanter versus at the pelvic brim in ambulatory children with cerebral palsy.

Background: Progressive hip flexion deformity is a common problem in ambulatory children with spastic cerebral palsy, causing static and dynamic deformity. The iliopsoas muscle is recognized as a major deforming force in the development of this problem. Many clinicians address this problem by lengthening the iliopsoas, either in an intramuscular location at the pelvic brim or by complete tenotomy at the lesser trochanter.

Walking energy expenditure in able-bodied individuals: a comparison of common measures of energy efficiency.

Assessment of walking energy efficiency is potentially useful for objectively quantifying gait efficiency; however, issues regarding methodology, day-to-day variability, inter subject variability (age and size differences) and clinical relevance prevents the assessment of walking energy efficiency from being used as a standard assessment tool. Volume of oxygen (VO(2)) and heart rate were assessed to determine the intra-subject (day-to-day) variability, the impact of age and body parameters and the clinical relevance of gross cost, Net non-dimensional Cost (NNcost) and Energy Efficiency Index (EEI) in able-bodied individuals. Gross cost demonstrated the least amount of day-to-day variability, in comparison to NNcost and EEI.

American College of Chest Physicians consensus statement on the respiratory and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation.

This statement on the management of patients with Duchenne muscular dystrophy (DMD) undergoing procedural sedation or general anesthesia represents the consensus opinion of a multidisciplinary panel convened under the auspices of the American College of Chest Physicians. Expert recommendations on this subject are needed for several reasons. First, patients with DMD have an increased risk of complications when they undergo sedation or general anesthesia.

Comparison of rectus femoris transposition with traditional transfer for treatment of stiff knee gait in patients with cerebral palsy.

Purpose: To assess the outcome of children with cerebral palsy following reposition of the distal rectus femoris tendon for treatment of stiff knee gait.

Methods: Children with cerebral palsy with stiff knee gait who underwent rectus femoris transfer were studied retrospectively. Inclusion criteria were cerebral palsy of diplegic or quadriplegic type, preoperative and 1 year postoperative three-dimensional motion analysis, and no other surgery except rectus femoris transfer at the time of study.