Results 311 to 320 of about 9,500,261 (386)

Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield. [PDF]

Sci Rep
Lehtonen J, Sulonen AM, Almusa H, Lehtokari VL, Johari M, Palva A, Hakonen AH, Wartiovaara K, Lehesjoki AE, Udd B, Wallgren-Pettersson C, Pelin K, Savarese M, Saarela J.   +13 more
europepmc   +1 more source

Anorectal gastric heterotopia as a rare cause of constipation: Case report and review of pediatric literature

JPGN Reports, EarlyView.
Abstract Gastric heterotropia (GHT) may present from the oropharynx to the anus and is commonly associated with Meckel's diverticula. Here, we describe a rare case of anorectal GHT localized to the distal anal canal. A 14‐month‐old male patient presented for evaluation of rectal bleeding, severe constipation, and abdominal distention with poor response
Kathryn M. Stephenson, Raj P. Kapur, Jeffrey R. Avansino, Lusine Ambartsumyan   +3 more
wiley   +1 more source

Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches

Disease Models & Mechanisms
Andrew R. Findlay
doaj   +1 more source

Pyridostigmine as treatment for chronic gastrointestinal dysmotility in a child with Mowat‐Wilson syndrome: A case report and literature review

JPGN Reports, EarlyView.
Abstract Gastrointestinal dysmotility is commonly reported among patients with Mowat‐Wilson syndrome (MWS) and poses a significant symptomatic burden. Unfortunately, there remains a knowledge gap regarding effective treatment strategies. A 2‐year‐old male with MWS presented with chronic paradoxical abdominal pain, constipation, and progressively ...
Grace J. Lin, Shreya B. Kishore, Sally Samaan, Lisa S. Hackett, Kevan Jacobson, Gabriella Horvath   +5 more
wiley   +1 more source

Decline in gut motility of cerebral palsy patients after a triggering event: A discussion on invasive versus conservative management

JPGN Reports, EarlyView.
Abstract Objectives Patients with cerebral palsy (CP) often have gastrointestinal dysmotility. An inciting event, such as infection, may lead to progressive decline in bowel motility and episodes of acute pediatric intestinal pseudo‐obstruction (PIPO).
Zoe Saenz, Elizabeth Reynolds, Jamie E. Anderson, Payam Saadai, Maheen Hassan   +4 more
wiley   +1 more source

Muscle MRI in patients with dysferlinopathy: Pattern recognition and implications for clinical trialP [PDF]

, 2018
et al,, Harms, Matthew, Pestronk, Alan
core   +1 more source

Knee muscle strength and movement biomechanics in individuals with and without knee pain after anterior cruciate ligament reconstruction: A cross‐sectional study

Knee Surgery, Sports Traumatology, Arthroscopy, EarlyView.
ABSTRACT Purpose Anterior cruciate ligament injury increases the risk of knee osteoarthritis, possibly via early onset of knee pain and changes in musculoskeletal function. This study compared knee muscle strength and movement biomechanics during walking and forward lunge between individuals with and without knee pain after anterior cruciate ligament ...
Elisabeth Bandak, Lauri Stenroth, Will Bosch, Kasper Krommes, Johannes Iuel Berg, Henrik Aagaard, Micael Haugegaard, Per Hölmich, Henning Bliddal, Marius Henriksen, Tine Alkjær   +10 more
wiley   +1 more source

Modeling neuromuscular diseases

Mathematical Modelling, 1986
openaire   +2 more sources

Adolescence risk factors for meniscus and ligamentous knee injuries in adulthood: A longitudinal study

Knee Surgery, Sports Traumatology, Arthroscopy, EarlyView.
Abstract Purpose Our aim is to investigate the influence of adolescent health‐related behaviours on the occurrence of meniscus and ligament injuries in a large cohort of Finnish adolescents with an average 27‐year follow‐up. Methods The baseline data were surveys conducted biannually from 1981 to 1997, and these were individually linked to outcomes, as
Matias Vaajala, Alisa Teuho, Rasmus Liukkonen, Ville Ponkilainen, Arja Rimpelä, Leena K. Koivusilta, Ville M. Mattila   +6 more
wiley   +1 more source