Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

The Muscular System01:18

The Muscular System

7.3K
The muscular system is essential to the body's overall structure and function, playing a crucial role in movement, stability, and internal processes. It consists of three distinct types of muscle tissue: the skeletal, the smooth, and the cardiac muscles.
7.3K
Diagnosing Acidosis and Alkalosis01:24

Diagnosing Acidosis and Alkalosis

1.3K
Diagnosing acid-base imbalances involves systematically analyzing arterial blood samples, focusing on three key measurements: pH, bicarbonate (HCO3−) concentration, and carbon dioxide partial pressure (PCO2). This analysis follows a four-step process that helps identify the imbalance's underlying cause and nature.
First, the pH level is assessed to determine whether the blood pH is normal (7.35–7.45), low (acidosis), or high (alkalosis).
Next, the PCO2  and...
1.3K
Trial and Error and Algorithm01:12

Trial and Error and Algorithm

429
A problem-solving strategy is a plan of action used to find a solution. Different strategies have distinct action plans. Trial and error involves trying different solutions until one works. For instance, to fix a broken printer, you might check ink levels, ensure the paper tray isn't jammed, and verify the printer's connection to your laptop. This method can be time-consuming but is commonly used. Thomas Edison, for example, used trial and error to find a suitable filament for the light...
429
Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

2.4K
Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
2.4K
Drug Dosing: Infants and Children01:29

Drug Dosing: Infants and Children

324
Pediatric patient dosages diverge from adults due to disparities in body surface area, total body water, and extracellular fluid per kilogram of body weight. The dosing regimen considers the variations in pharmacokinetics and pharmacology across distinct age groups, encompassing preterm newborns, infants, young children, older children, and adolescents. Calculation of pediatric patient doses is predicated on determining body surface area, which exhibits a superior correlation with the child's...
324
Spinal Cord01:26

Spinal Cord

2.0K
The spinal cord, a critical component of the central nervous system, extends from the base of the brainstem to the lumbar region of the vertebral column. It is essential for maintaining physical stability and facilitating communication between the brain and peripheral parts of the body.
2.0K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Cumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher Disease.

American journal of hematology·2026
Same author

Two Patients With Juvenile-Onset, Rapidly Progressive Amyotrophic Lateral Sclerosis Associated With an SOD1 Variant (p.Asp125Gly) With Incomplete Penetrance.

Muscle & nerve·2026
Same author

Three-Dimensional Object Perception Can Emerge From Predictive Learning.

Developmental science·2026
Same author

Identification of prognostic biomarkers in a large cohort of patients with LGMD R2.

Journal of neurology·2026
Same author

The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single <i>SMN2</i> copy: an international retrospective observational study.

EClinicalMedicine·2026
Same author

Longitudinal Psychometric Properties of the Myotonic Dystrophy Health Index in a Large Multicenter Cohort of People Living With Myotonic Dystrophy Type 1.

Muscle & nerve·2026

Related Experiment Video

Updated: Feb 12, 2026

A Modified Sonographic Algorithm for Image Acquisition in Life-Threatening Emergencies in the Critically Ill Newborn
11:27

A Modified Sonographic Algorithm for Image Acquisition in Life-Threatening Emergencies in the Critically Ill Newborn

Published on: April 7, 2023

7.4K

Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening.

Jacqueline Glascock1, Jacinda Sampson2, Amanda Haidet-Phillips3

  • 1Cure SMA, Elk Grove Village, IL, USA.

Journal of Neuromuscular Diseases
|April 5, 2018
PubMed
Summary
This summary is machine-generated.

Newborn screening for spinal muscular atrophy (SMA) allows early detection. Infants with two or three copies of the SMN2 gene should receive immediate treatment for optimal outcomes.

Keywords:
Newborn screeningSMN1algorithmdrug treatmentspinal muscular atrophysurvival motor neuron (SMN)

More Related Videos

Enhancing the Development and Growth of Infant Cerebral Palsy Rats Using Selective Spinal Manipulations
05:04

Enhancing the Development and Growth of Infant Cerebral Palsy Rats Using Selective Spinal Manipulations

Published on: February 2, 2024

997
Assessment of the Efficacy of An Osteopathic Treatment in Infants with Biomechanical Impairments to Suckling
07:11

Assessment of the Efficacy of An Osteopathic Treatment in Infants with Biomechanical Impairments to Suckling

Published on: February 5, 2019

9.7K

Related Experiment Videos

Last Updated: Feb 12, 2026

A Modified Sonographic Algorithm for Image Acquisition in Life-Threatening Emergencies in the Critically Ill Newborn
11:27

A Modified Sonographic Algorithm for Image Acquisition in Life-Threatening Emergencies in the Critically Ill Newborn

Published on: April 7, 2023

7.4K
Enhancing the Development and Growth of Infant Cerebral Palsy Rats Using Selective Spinal Manipulations
05:04

Enhancing the Development and Growth of Infant Cerebral Palsy Rats Using Selective Spinal Manipulations

Published on: February 2, 2024

997
Assessment of the Efficacy of An Osteopathic Treatment in Infants with Biomechanical Impairments to Suckling
07:11

Assessment of the Efficacy of An Osteopathic Treatment in Infants with Biomechanical Impairments to Suckling

Published on: February 5, 2019

9.7K

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease.
  • SMA results from deletions or mutations in the survival motor neuron 1 gene (SMN1).
  • The SMN2 gene copy number correlates with SMA disease severity.

Purpose of the Study:

  • Develop a treatment algorithm for infants identified with SMA through newborn screening.
  • Utilize SMN2 copy number to guide treatment decisions.

Main Methods:

  • A modified Delphi process involving 15 SMA experts.
  • Moderation by a neutral third-party expert to establish consensus.

Main Results:

  • Recommended immediate treatment for all infants with two or three SMN2 copies.
  • Established guidelines for treatment timing and necessary tests for other cases.

Conclusions:

  • Newborn screening for SMA offers a chance for pre-symptomatic treatment and maximal benefit.
  • These recommendations aim to guide treatment protocols for infants identified via newborn screening.