Results 71 to 80 of about 1,822 (274)

Physiological barriers to oral intake in survivors of critical illness: A scoping review

Nutrition in Clinical Practice, EarlyView.
Abstract Oral nutrition is the predominant mode of nutrition delivery on the post–Intensive Care Unit (ICU) ward; yet, it is associated with lower intake than via enteral or parenteral nutrition. There are limited data on barriers that influence oral intake in ICU survivors.
Breanna J. Teleki, Elizabeth Viner Smith, Amy Freeman‐Sanderson, Rosalie Yandell, Lee‐anne S. Chapple   +4 more
wiley   +1 more source

The Relationship between Osteogenesis Imperfecta and Spinal Muscular Atrophy [PDF]

, 2011
ObjectiveA 4-month-old female with osteogenesis imperfecta (OI) type II was admitted in PICU of our center due to severe respiratory distress and fever with a diagnosis of severe pneumonia, and mechanical ventilation was initiated.
Fahimzad, Alireza, Karimi, Abdollah, Soltani, Babak, Talebian, Mahshid   +3 more
core   +2 more sources

Bone Health Following Lifestyle‐Induced Weight Loss in Individuals With Overweight/Obesity: A Narrative Review

Obesity, EarlyView.
ABSTRACT Although weight loss has many health benefits for people with overweight/obesity, its potential negative impact on bone health needs to be considered. This review provides a comprehensive overview of the effects of intentional weight loss achieved by lifestyle changes on bone health outcomes in adults with overweight/obesity and discusses ...
Mélanie A. Legrand, Julien Paccou, Jean‐Michel Lecerf, Thierry Thomas, Roland Chapurlat, Bernard Cortet, Emmanuel Biver, Maria Papageorgiou   +7 more
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

“I'd rather be in pain than be patronized.” A qualitative study of health care experiences of persons with disabilities

PM&R, EarlyView.
Abstract Background Prior research shows that persons with disabilities (PWD) frequently receive inadequate health care and that physicians are uncomfortable caring for patients with disabilities, both of which may be attributed to the lack of disability education in medical training.
Jessica A. Prokup, Elise M. Pearson, Alan Cuevas Villagomez, Kristyn L. Felman, Amy J. Houtrow, Max B. Hurwitz   +5 more
wiley   +1 more source

Severe depletion of mitochondrial DNA in spinal muscular atrophy [PDF]

, 2003
Spinal muscular atrophy (SMA) is a neuromus- cular disorder in childhood leading to a dramatic loss of muscle strength. Functional investigations with high-reso- lution polarography and enzyme measurements of the res- piratory chain revealed lowered ...
Berger, A., Bittner, R., Budka, H., Fötschl, U., Grethen, C., Huemer, M., Kofler, B., Mayr, J., Meierhofer, D., Sperl, W.   +9 more
core   +2 more sources

State‐of‐the‐Art on Model‐Informed Drug Development Approaches for Pediatric Rare Diseases

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Pediatric rare diseases present unique challenges for drug development due to small patient populations, ethical constraints on clinical trial design, and limited prospectively defined natural history data. Model‐Informed Drug Development (MIDD) has emerged as a powerful paradigm to address these challenges by leveraging quantitative methods ...
Rajesh Krishna, Amitava Mitra, Matthew L. Zierhut, Lilly East, Chandra Durairaj   +4 more
wiley   +1 more source

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P [PDF]

, 2017
In 1965, an adult-onset, autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy was described in a large, multi-generation kindred and named ‘scapuloperoneal syndrome type Kaeser' (OMIM #181400).
Born, C., Bulst, S., Fischer, D., Frey, J. R., Huebner, A., Klutzny, U., Krause, K. H., Kress, W., Lochmüller, H., Reilich, P., Schoser, B. G., Schröder, R., Vorgerd, M., Walter, M. C.   +13 more
core  

Molecular crosstalk between non-SMN-related and SMN-related spinal muscular atrophy [PDF]

, 2020
Most cases of spinal muscular atrophy are caused by functional loss of the survival of motor neuron 1 (SMN1) gene, while less than 5% of cases are attributed to genes other than SMN.
Fuller, HR, Šoltić, D
core   +1 more source

Transforming Pediatric Rare Disease Drug Development: Enhancing Clinical Trials and Regulatory Evidence With Virtual Patients

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Drug development in pediatric rare diseases is complicated by practical and ethical constraints on clinical trial design, stemming from small, highly heterogeneous, and vulnerable patient populations. Virtual patients (VPs) created with machine‐learning (ML), mechanistically driven computational approaches, or hybrids thereof, have the ...
Fianne Sips, Marco Virgolin, Giuseppe Pasculli, Federico Reali, Alessio Paris, Annette Janus, Yann Godfrin, Daniel Röshammar, Luca Marchetti, Jane Knöchel   +9 more
wiley   +1 more source