Results 71 to 80 of about 1,403 (143)

Toward improved inference for Krippendorff's Alpha agreement coefficient [PDF]

arXiv, 2022
In this article I recommend a better point estimator for Krippendorff's Alpha agreement coefficient, and develop a jackknife variance estimator that leads to much better interval estimation than does the customary bootstrap procedure or an alternative bootstrap procedure.
arxiv  

Treatment of hypoglycemia due to a rare pathogenic variant in AKT2 with waxy maize heat‐modified starch

Clinical Case Reports, Volume 12, Issue 2, February 2024.
WMHS is an effective treatment option for maintaining euglycemia in patients with activitating AKT2 mutations. Key Clinical Message The gain‐of‐function AKT2 c.49G>A variant causes hypoketotic hypoglycemia with variable associated features. Due to lack of effective medications, treatment is primarily supportive.
Madeline Parker, Daphne Yau
wiley   +1 more source

Visual interpretation, not SUV ratios, is the ideal method to interpret 18F-DOPA PET scans to aid in the cure of patients with focal congenital hyperinsulinism.

PLoS ONE, 2020
IntroductionCongenital hyperinsulinism is characterized by abnormal regulation of insulin secretion from the pancreas causing profound hypoketotic hypoglycemia and is the leading cause of persistent hypoglycemia in infants and children.
Pradeep K Garg, Burton Putegnat, Lisa Truong, Courtney Reynolds, Irene Sanchez, Jonathan K Nedrelow, John Uffman, Stephen J Lokitz, Rachid Nazih, Sudha Garg, Paul S Thornton   +10 more
doaj   +1 more source

Postbariatric surgery hypoglycemia: Nutritional, pharmacological and surgical perspectives

Diabetes/Metabolism Research and Reviews, Volume 40, Issue 2, February 2024.
Abstract Post‐bariatric hypoglycaemia (PBH) is a metabolic complication of bariatric surgery (BS), consisting of low post‐prandial glucose levels in patients having undergone bariatric procedures. While BS is currently the most effective and relatively safe treatment for obesity and its complications, the development of PBH can significantly impact ...
Giovanni Rossini, Renata Risi, Lavinia Monte, Biagio Sancetta, Maria Quadrini, Massimiliano Ugoccioni, Davide Masi, Rebecca Rossetti, Rossella D’Alessio, Rossella Mazzilli, Giuseppe Defeudis, Carla Lubrano, Lucio Gnessi, Mikiko Watanabe, Silvia Manfrini, Dario Tuccinardi   +15 more
wiley   +1 more source

Education program for caregivers in congenital central hypoventilation syndrome: Initiation and experience families

Pediatric Pulmonology, Volume 59, Issue 12, Page 3777-3782, December 2024.
Delphine Micaelli, Zina Ghelab, Christophe Delclaux, Caroline Artu‐Dumont, Maxime Patout, Fleur Le Bourgeois, Stéphane Dauger, Plamen Bokov, Benjamin Dudoignon   +8 more
wiley   +1 more source

Beckwith–Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations

American Journal of Medical Genetics Part A, Volume 194, Issue 1, Page 88-93, January 2024.
Abstract We describe a 2‐month‐old female infant with macroglossia, macrosomia, omphalocele, neonatal hypoglycemia, earlobe creases, low nasal bridge, midface retrusion, syndromic facies and multiple cutaneous and hepatic hemangiomas (HH). Genetic evaluation confirmed the diagnosis of Beckwith–Wiedemann Syndrome (BWS) with mosaic uniparental disomy 11 ...
Maria Moutafi, Nikolaos Gkiourtzis, Athina Ververi, Maria Kavga, Anthi Morichovitou, Kyriaki Papadopoulou‐Legbelou, Maria Fotoulaki, Paraskevi Panagopoulou   +7 more
wiley   +1 more source

Benign lesions of the mediastinum

Histopathology, Volume 84, Issue 1, Page 183-195, January 2024.
Thymic hyperplasia with lymphoepithelial sialadenitis (LESA)‐like features as an example of a thymic tumorous lesion showing an association with non‐myasthenic autoimmune diseases and lymphomas. Mediastinal tumours represent a heterogeneous group of entities derived from the manifold structures located in or adjacent to the mediastinum.
Tiemo Sven Gerber, Stefan Porubsky
wiley   +1 more source

Persistent hyperinsulinism in Kabuki syndrome 2: case report and literature review

Clinics and Practice, 2016
Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated ...
Hobia Gole, Raymond Chuk, David Coman
doaj   +1 more source

Non‐surgical Treatment May be Appropriate for Most Chinese Children With Monogenic Congenital Hyperinsulinism Based on a Retrospective Study of 121 Patients

Pediatric Diabetes, Volume 2024, Issue 1, 2024.
Objective: There is a notable absence of extensive Chinese studies involving monogenic congenital hyperinsulinism (CHI). The purpose of this large retrospective Chinese cohort with monogenic CHI from a national children’s medical center was to analyze the genetic and clinical characteristics.
Ming Cheng, Chang Su, Dongmei Wang, Yanning Song, Yang Li, He Zeng, Zheng Yuan, Xiaoqiao Li, Xi Meng, Yuan Ding, Bingyan Cao, Chunxiu Gong, Jeanie B. Tryggestad   +12 more
wiley   +1 more source

Artificial neural networks for 3D cell shape recognition from confocal images [PDF]

arXiv, 2020
We present a dual-stage neural network architecture for analyzing fine shape details from microscopy recordings in 3D. The system, tested on red blood cells, uses training data from both healthy donors and patients with a congenital blood disease. Characteristic shape features are revealed from the spherical harmonics spectrum of each cell and are ...
arxiv