Results 71 to 80 of about 283,817 (266)

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

Embryologic remnant of the umbilical vein presenting as an incarcerated umbilical hernia in a 6-month old: A case report

Journal of Pediatric Surgery Case Reports
Introduction: Incarcerated or strangulated pediatric umbilical hernias are uncommon but warrant urgent surgical intervention when present. Rarely, embryologic remnants can mimic an incarcerated umbilical hernia and may be indistinguishable on examination
Blynn L. Shideler, Shelby R. Sferra, Roxanne L. Massoumi, Alexander V. Chalphin, Steven Stylianos   +4 more
doaj   +1 more source

Berardinelli-Seip Syndrome [PDF]

, 2011
We have reported two cases of Berardinelli-syndrome in a family which is a rare autosomal recessive disorder of the adipose tissue, originally described by Berardinelli and Seip, has been reported in approximately 120 patients of various ethnic origins ...
Dal, Sameer I, Patel, Hitesh
core   +1 more source

Prevalence of disorders recorded in Cavalier King Charles Spaniels attending primary-care veterinary practices in England [PDF]

, 2015
Concerns have been raised over breed-related health issues in purebred dogs, but reliable prevalence estimates for disorders within specific breeds are sparse.
Brodbelt, D C, Church, D B, McGreevy, P D, O'Neill, D G, Summers, J F, Thomson, P C   +5 more
core   +3 more sources

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. [PDF]

, 2020
Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic ...
Alix, E, Alkaya, DU, Ashrafzadeh, F, Becker, F, Bilguvar, K, Chatron, N, de Bellescize, J, EuroEpinomics-RES consortium AR working group, Gunes, N, Hardies, K, Hussien, H, Karimiani, EG, Kok, F, Labalme, A, Lerche, H, Lesca, G, Maroofian, R, May, P, Morsy, H, Moslemi, A-R, Nabil, A, Najafi, M, Omar, T, Poulat, A-L, Ramos, L, Roselli, S, Sanlaville, D, Schmidts, M, Tajsharghi, H, Tuysuz, B, Weckhuysen, S   +30 more
core   +2 more sources

Paraumbilical/Umbilical Hernia

, 2021
Umbilical hernia is a common pathology that occurs in around 2% of the population. About 10% of abdominal hernias are umbilical hernias and umbilical hernia repair is among the most commonly performed surgeries in adults. The diagnosis is straightforward when tissues or organs such as the omentum or a bowel segment bulge out through an opening in the ...
Andrea Sanna, Luca Felicioni
openaire   +4 more sources

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Sister Mary Joseph's Nodule at a University Teaching Hospital in Northwestern Tanzania: A Retrospective Review of 34 cases. [PDF]

, 2013
Sister Mary Joseph's nodule is a metastatic tumor deposit in the umbilicus and often represents advanced intra-abdominal malignancy with dismal prognosis. There is a paucity of published data on this subject in our setting.
A Dubreuil, AB Clements, AJ Khan, B Majmudar, B Piura, C Tam, D Calista, D Trebing, E Kolwijck, F Al-Mashat, F Panaro, FC Powell, H Bailey, H Bank, IS Schwartz, JJ Horn, JL O'Leary, Joseph B. Mabula, JP Touraud, M Falchi, M Yusuf, Mabula D. Mchembe, MR Shetty, MV Barrow, Peter F. Rambau, Phillipo L. Chalya, R Amaro, R Gabriele, R Gabriele, RA Shwartz, RS Goodheart, SN Chatterjee, V Charoenkul, V Schneider, VG Galva, WD Steck   +35 more
core   +1 more source

Combining Detailed Fetal Anatomy Scanning in the NT Window Versus Early Second Trimester Scanning at 14–16 Weeks

Journal of Ultrasound in Medicine, EarlyView.
Objectives First‐trimester ultrasound has evolved to incorporate a detailed fetal anatomy scan (FAS) with nuchal translucency (NT) screening. Many institutions use a 2‐visit protocol: NT followed by detailed FAS at 14–16 weeks. We aimed to evaluate whether integrating detailed FAS into the NT window (12 + 5 to 13 + 6 weeks) is non‐inferior in ...
Tomer Shwartz, Sarah M. Cohen, Michal Lipschuetz, Hila Hochler, Yaron Zalel, Dan V. Valsky, Simcha Yagel   +6 more
wiley   +1 more source

SUMMER Trial: mesh versus suture repair in small umbilical hernias in adults—a study protocol for a prospective randomized double-blind multicenter clinical trial

Trials, 2021
Background Small umbilical hernia repair is one of the most common surgical performances in general surgery. Yet, a gold standard procedure for the repair is still lacking today. There is an increasing evidence that mesh could be advantageous compared to
M. Melkemichel, S. Bringman, G. Granåsen, B. Widhe   +3 more
doaj   +1 more source