Results 11 to 20 of about 333,786 (359)

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1941-1952, December 2022., 2022
Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
Michelle M. Lee, Graeme S. V. McDowell, Darryl C. De Vivo, Daniel Friedman, Samuel F. Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A. Sanchez‐Lara, Michelle Allen‐Sharpley, Jodi Warman‐Chardon, Alexander Solyom, Thierry Levade, Edward H. Schuchman, Steffany A. L. Bennett, David A. Dyment, Toni S. Pearson   +16 more
wiley   +1 more source

A prospective randomized controlled study on the role of restoring liver diaphragm surface tension and pain control at port sites in optimizing pain management following laparoscopic cholecystectomy

Annals of Gastroenterological Surgery, Volume 7, Issue 1, Page 131-137, January 2023., 2023
The cornerstone of treatment for symptomatic gallbladder stones is laparoscopic cholecystectomy. Pain is the commonest cause of extended hospital stay. Disturbance of liver—diaphragm surface tension is the main cause of pain. Retained CO2 is a major concern post laparoscopic cholecystectomy.
Mohamed Lotfy Ali Abuelzein, Mohamed Ali Baghdadi, Waleed Ahmed Abbdelhady, Mostafa Mohamed Khairy   +3 more
wiley   +1 more source

Perioperative optimization of Crohn's disease

Annals of Gastroenterological Surgery, Volume 7, Issue 1, Page 10-26, January 2023., 2023
Most Crohn's disease patients require surgery during the course of their illness, especially those who experience complications. The management of perioperative medications and surgery‐related decision‐making should be individualized and patient‐centered based on a multidisciplinary approach.
Chun‐Chi Lin, Hung‐Hsin Lin, Hui‐Chuen Chen, Nai‐Chia Chen, I‐Lun Shih, Ji‐Shiang Hung, Te‐Cheng Yueh, Feng‐Fan Chiang, Ping‐Wei Lin, Yuan‐Yao Tsai, Shu‐Chen Wei   +10 more
wiley   +1 more source

Atypical IgG4‐related disease limited to the sino‐nasal cavity: A case report

Clinical Case Reports, 2021
Given the overlapping clinical features of sino‐nasal immunoglobulin 4‐related disease (IgG4‐RD) to rhinitis or rhinosinusitis, this paper aims to delineate this rare, isolated manifestation significant to physicians for their daily practice and ...
Ahmed Shaikh, Karol Silla, Adham A. Aljariri, Mouhammad Zuhair Sharaf Eldean, Hamad Al Saey   +4 more
doaj   +1 more source

Ambulatory care database [PDF]

The Seventh Annual Symposium on Computer Applications in Medical Care, 1983. Proceedings., 2005
A six month project was undertaken to collect outpatient encounter data (demographic, workload, and diagnoses) at a community medical treatment facility. To capture data, the 13,000 patients seen each month, the clerical staff and primary care providers all completed portions of a "mark sense" form. Study results, lessons learned, and a conceptual plan
openaire   +3 more sources

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 501-509, December 2022., 2022
Abstract Gene variants that dysregulate signaling through the RAS‐MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi‐system disorder. Infantile epileptic spasms syndrome (IESS) and other forms of epilepsy are among the most serious complications.
Daniel L. Kenney‐Jung, Dante J. Rogers, Samuel J. Kroening, Abigail L. Zatkalik, Ashley E. Whitmarsh, Amy E. Roberts, Martin Zenker, Maria Luigia Gambardella, Ilaria Contaldo, Chiara Leoni, Roberta Onesimo, Giuseppe Zampino, Marco Tartaglia, Domenica I. Battaglia, Elizabeth I. Pierpont   +14 more
wiley   +1 more source

Participation in medical activities beyond standard consultations by Swiss general practitioners: a cross-sectional study

BMC Family Practice, 2018
Background Few data exist to support the observation that general practitioners (GPs) occupy many important positions in our communities or to characterize which GPs devote more of their time to such activities.
Julian Jakob, Christine Cohidon, Jacques Cornuz, Kevin Selby   +3 more
doaj   +1 more source

A Machine Learning Approach for Delineating Similar Sound Symptoms of Respiratory Conditions on a Smartphone [PDF]

, 2021
Clinical characterization and interpretation of respiratory sound symptoms have remained a challenge due to the similarities in the audio properties that manifest during auscultation in medical diagnosis. The misinterpretation and conflation of these sounds coupled with the comorbidity cases of the associated ailments particularly, exercised-induced ...
arxiv   +1 more source

One‐year COVID‐19 outcomes on the oncology care patient pathway: Results of a French descriptive, cross‐sectional comprehensive study (ONCOCARE‐COV)

Cancer Medicine, Volume 11, Issue 24, Page 4865-4879, December 2022., 2022
Key steps in the oncology care pathway activity were retrospectively analyzed and compared in this comprehensive and cross‐sectional study, between the different time settings in the COVID‐19 pandemic. Oncology care were heavily disrupted during the first and second COVID‐19 outbreak waves with decrease in screening and diagnosis activity as well as an
Léonard Laurent, Mathias Brugel, Claire Carlier, Florentin Clere, Aurélie Bertrand, Damien Botsen, Camille Boulagnon‐Rombi, Véronique Dalstein, Adeline Debreuve‐Theresette, Sophie Deguelte, Christian Garbar, Rachid Mahmoudi, Antonin Marechal, David Morland, Jean‐Baptiste Rey, Claire Schvartz, Catherine Vallet, Yacine Merrouche, Florian Slimano, Olivier Bouché   +19 more
wiley   +1 more source

Self-diagnosis of malaria by travellers: a cohort study on the use of malaria rapid diagnostic tests provided by a Swiss travel clinic

Malaria Journal, 2017
Background The WHO recommends that all suspect malaria cases be tested before receiving treatment. Rapid diagnostic tests (RDT) for malaria can be performed reliably by community health workers with no formal medical background and thus, RDTs could also ...
Delphine Berthod, Jacynthe Rochat, Rachel Voumard, Laurence Rochat, Blaise Genton, Valérie D’Acremont   +5 more
doaj   +1 more source