Results 71 to 80 of about 22,388 (216)

Generating health technology assessment evidence for rare diseases [PDF]

, 2014
Objectives: Rare diseases are often heterogeneous in their progression and response to treatment, with only a small population for study. This provides challenges for evidence generation to support HTA, so novel research methods are required.
Facey, Karen, Granados, Alicia, Guyatt, Gordon, Kent, Alastair, Shah, Nilay, van der Wilt, Gert Jan, Wong-Rieger, Durhane   +6 more
core   +1 more source

Is Surgical Treatment for Obstructive Sleep Apnea in Infants and Toddlers Safe? A Retrospective Comparative Analysis

Clinical Otolaryngology, Volume 51, Issue 3, Page 418-425, May 2026.
ABSTRACT Objective To assess if surgery for Obstructive Sleep Apnea Disorder (OSAD) is safe for infants and toddlers. Methods Retrospective cohort study of paediatric patients undergoing OSA surgery; partial or complete tonsillectomy with adenoidectomy, tonsillectomy without adenoidectomy and adenoidectomy.
Daniel Levi, Daniel Yafit, Aviad Sapir, Yotam Heilig, Tomer Kerman, Oriya Damri, Inbal Golan‐Tripto, Daniel Michael Kaplan, Oren Ziv   +8 more
wiley   +1 more source

Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI [PDF]

, 2017
Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo ...
Adamo, Ana María, Franco, Paula Gabriela, Mathieu, Patricia Andrea, Perez, Maria Julia, Setton, Clara Patricia, Silvestroff, Lucas   +5 more
core  

The Placebo Effect in Rare Disease Clinical Trials: Measurement, Impact, and Statistical Approaches for Patient‐as‐Own‐Control Designs

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT A frequently cited concern regarding patient‐as‐own‐control trial designs in rare disease is the potential for placebo and related effects to inflate apparent treatment efficacy. Whether this concern is disqualifying or manageable has not been systematically evaluated.
Marshall L. Summar, Janet Woodcock
wiley   +1 more source

Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease

Case Reports in Pediatrics, 2019
Introduction. Pompe disease is an autosomal recessive lysosomal storage disorder with marked morbidity and mortality, if untreated. With the advent of enzyme replacement therapy, it is essential to identify the infantile-type as early as possible to ...
Allison M. Jay, Premchand Anne, David Stockton   +2 more
doaj   +1 more source

Report of the first Brazilian infantile Pompe disease patient to be treated with recombinant human acid alpha-glucosidase [PDF]

, 2008
Objetivo: Relatar o primeiro caso de forma infantil da doença de Pompe tratado no Brasil. Descrição: Trata-se de doença de depósito lisossomal que se caracteriza por defeitos da enzima alfa-glicosidase ácida, com acúmulo intracelular de glicogênio ...
BERDITCHEVISKY, Célia R., MARIE, Suely K. N., PEREIRA, Sandra J.   +2 more
core   +2 more sources

Child Neurology: Pompe disease [PDF]

Neurology, 2012
A 10-month-old full-term baby girl was transferred to our tertiary care hospital for respiratory distress and hypoxemia. Developmental history revealed significant motor delay. On physical examination, she was noted to be hypotonic, to be dysmorphic with macroglossia, and to have hepatomegaly.
Deepa S, Rajan, Hoda, Abdel-Hamid
openaire   +2 more sources

The Potential of Digital Twins for Pediatric Rare Diseases

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 4, April 2026.
ABSTRACT Rare diseases affect over 300 million people globally, with approximately 75% manifesting in childhood. Their diagnosis is often delayed and approved treatments are lacking for most of the conditions. Pediatric rare diseases research is further complicated by ethical constraints and developmental diversity across childhood.
Rahuman S. Malik‐Sheriff, Anurag Limdi, Evangelia Petsalaki, Henning Hermjakob, Ellen M. McDonagh   +4 more
wiley   +1 more source

Cipaglucosidase alfa-atga: Unveiling new horizons in Pompe disease therapy

Health Sciences Review
Pompe disease is a lysosomal storage disease characterized by impaired glycogen breakdown due to an acid α-glucosidase (GAA) enzyme deficiency. Without therapy, children with the severe infantile form do not survive past their first year of life ...
Arshdeep Singh, Rabin Debnath, Aniket Saini, Kushal Seni, Anjali Sharma, Deepak Singh Bisht, Viney Chawla, Pooja A Chawla   +7 more
doaj   +1 more source

EEG Brain Rhythms During Resting‐State Wakefulness and Sleep in Elderly Expert Meditators

Journal of Sleep Research, Volume 35, Issue 2, April 2026.
Compared to controls, elderly expert meditators exhibited (1) more preserved resting‐state brain activity, (2) less altered sleep architecture, and (3) EEG features indicative of heightened cognitive states during NREM sleep. Importantly, several of the metrics that differed between groups also showed consistent correlations with meditation expertise ...
Pierre Champetier, Anaïs Hamel, Claire André, Valentin Ourry, Tristan Lacroix, Stéphane Rehel, Léa Chauveau, Sacha Haudry, Françoise Bertran, Vincent de la Sayette, Denis Vivien, Gaël Chételat, Antoine Lutz, Géraldine Rauchs, Medit‐Ageing Research Group, Alexandre Bejanin, Anne Chocat, Fabienne Collette, Sophie Dautricourt, Robin De Flores, Marion Delarue, Harriet Demnitz‐King, Hélène Espérou, Séverine Fauvel, Francesca Felisatti, Eglantine Ferrand Devouge, Eric Frison, Julie Gonneaud, Oriane Hébert, Olga Klimecki, Elizabeth Kuhn, Brigitte Landeau, Valérie Lefranc, Natalie Marchant, Florence Mezenge, Cassandre Palix, Anne Quillard, Florence Requier, Daniel Roquet, Edelweiss Touron, Anne‐Laure Turpin, Patrik Vuilleumier, Tim Whitfield, Miranka Wirth   +43 more
wiley   +1 more source