Results 111 to 120 of about 8,625 (250)

Analysis of Carbohydrates and Glycoconjugates by Matrix‐Assisted Laser Desorption/Ionization Mass Spectrometry: An Update for 2023–2024

Mass Spectrometry Reviews, EarlyView.
ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley   +1 more source

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source

Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric Study

Movement Disorders, EarlyView.
Abstract Background Although not confirmed, some studies have suggested that elevated homocysteine levels are common in patients with Huntington's disease (HD). Its clinical relevance remains unclear. Objectives We aimed to assess vitamin B and homocysteine levels in HD patients and explore the relationships among hyperhomocysteinemia, vitamin B ...
Salomé Puisieux, Elise Pourié, Céline Bonnet, Lucie Hopes, Solène Frismand, Myriam Bronner, Virginie Roth, Marion Wandzel, Natacha Sloboda, Laetitia Lambert, Abderrahim Oussalah, Amélia Julien, Irina Rotaru, Rosa‐Maria Guéant‐Rodriguez, Jean Louis Guéant, Carine Bossenmeyer‐Pourié, Mathilde Renaud   +16 more
wiley   +1 more source

Identification and evaluation of Pharmacological enhancers of the factor VII p.Q160R variant

Scientific Reports
Congenital factor (F) VII deficiency is caused by mutations in the F7 gene. The p.Q160R variant manifests with bleeding episodes due to reduced FVII activity and antigen in patient plasma, most likely caused by protein misfolding and intracellular ...
M. S. Andresen, M. C. Mowinckel, E. Skarpen, E. Andersen, P. M. Sandset, M. E. Chollet, B. Stavik   +6 more
doaj   +1 more source

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley   +1 more source

Continuous Respiratory Oscillometry in Pediatric Laparoscopic Surgery—The COMET Study

Pediatric Anesthesia, EarlyView.
ABSTRACT Background Laparoscopic appendectomy is the accepted surgical approach for appendicitis in centers worldwide. Laparoscopic surgery requires the creation of a pneumoperitoneum to facilitate surgical access. Laparoscopic surgery affects the respiratory mechanics of patients under general anesthesia.
Neil Hauser, Emanuela Zannin, Julie Nguyen, Anwen Taplin, Sara Vigevani, David Sommerfield, Raffaele Dellaca, R. Nazim Khan, Aine Sommerfield, Britta S. von Ungern‐Sternberg   +9 more
wiley   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Transplacental Flecainide and/or Digoxin for Fetal Tachyarrhythmias: Therapeutic Efficacy and Clinical Experience

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To assess the efficacy and safety of transplacental flecainide and/or digoxin for fetal tachyarrhythmias when sotalol is unavailable. Method We evaluated transplacental flecainide, digoxin, or combination therapy in a retrospective and prospective cohort across two Thai tertiary centers.
Mukpradab Darakamas, Sanitra Anuwutnavin, Fuanglada Tongprasert, Wisit Chankhunaphas, Kanyarat Nilto, Supaluck Kanjanauthai, Jarupim Soongswang   +6 more
wiley   +1 more source

Respiratory profile of pediatric patients undergoing hematopoietic stem cell transplantation studied by oscillometry – A TRANSPIRE cohort

Pediatric Investigation, EarlyView.
These are results from a multi‐center collaboration between four large pediatric institutions, investigating baseline respiratory system function in a cohort of children undergoing hematopoietic stem cell transplantation. This manuscript proposes respiratory oscillometry as a novel way to prospectively follow lung function in these children.
Maureen B. Parenti, Julian Allen, Lisa R. Young, Heather Boas, Jason Freedman, Christopher Towe, Jane Koo, Kasiani Myers, Jason C. Woods, Adam Lane, Jonathan Gaffin, Wai Wong, Leslie Lehmann, Fernando Urrego, Gabriel Salinas Cisneros, Matthew F. Abts, K. Scott Baker, Manuel Silva‐Carmona, Erin Doherty, Paul D. Robinson, Margaret MacMillan, Stella M. Davies, Samuel B. Goldfarb   +22 more
wiley   +1 more source

Congenital factor VII deficiency in Iraqi children (Single Centre Experience). [PDF]

Pak J Med Sci, 2020
Khudhair AA, Salih AA, Kadhum AJ.
europepmc   +1 more source