Results 61 to 70 of about 174,433,405 (307)

Congenital syphilis in a preterm newborn with gastrointestinal disorders and postnatal growth restriction

Italian Journal of Pediatrics, 2022
Background Congenital syphilis (CS) depends on the placental transmission of Treponema pallidum (TP) spirochetes from an infected mother to fetus during pregnancy. It shows a wide clinical variability with cutaneous and visceral manifestations, including
Gregorio Serra, Maurizio Carta, Maria Rita Di Pace, Eleonora La Sala, Ettore Piro, Sergio Salerno, Ingrid Anne Mandy Schierz, Alessia Vassallo, Mario Giuffrè, Giovanni Corsello   +9 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Integration of Serum Neurofilament Light Chain and Cortical Dysfunction Improves Diagnostic Accuracy in ALS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether integration of serum neurofilament light chain (NfL) and cortical dysfunction improves diagnostic accuracy in amyotrophic lateral sclerosis (ALS) when applied alongside the Gold Coast criteria (GCC). Methods In this prospective study, 148 participants with suspected ALS were recruited (101 ALS and 47 with ALS ...
Aicee Dawn Calma, Nathan Pavey, Yukiko Tsuji, Amirul Ab Ghapar, Mehdi A.J. van den Bos, Bronwen Orden, Grace Lee, Linda Mekhael, Julie Ryder, Cláudia Santos Silva, David McDonald, Fakhria Kakar, Con Yiannikas, Matthew C. Kiernan, David A. Brown, Parvathi Menon, Steve Vucic   +16 more
wiley   +1 more source

Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif, Diane Demailly, Gabriella A. Horvàth, Juan Dario Ortigoza Escobar, Nathalie Dorison, Mayté Castro Jiménez, Cécile A. Hubsch, Thomas Wirth, Gun‐Marie Hariz, Sophie Huby, Morgan Dornadic, Zohra Souei, Muhammad Mushhood Ur Rehman, Simone Hemm, Mehdi Boulaymen, Eduardo M. Moraud, Jocelyne Bloch, Xavier Vasques   +17 more
wiley   +1 more source

Communication and educational gaps in end-of-life care in Italian internal medicine wards: a cross-sectional study

BMC Palliative Care
Background End-of-life (EOL) care is a frequent and complex aspect of internal medicine, yet data on physicians’ training, clinical practices, and perceived challenges are limited.
Mario Stabile, Maria Ghinatti, Elena Migliore, Fabrizio Elia, Francesca Riccardi, Lorenzo Ferrando, Nicolò Gilardi, Francesco Ravera, Benedetta Cigolini, Martina Penso, Daniele Dotta, Elena Barbagelata, Gabriella Biffa, Franco Aprà, Luigi Fenoglio, Nicola Girtler, Roberto Pontremoli, Christian Bracco, Alberto Ballestrero, Gabriele Zoppoli   +19 more
doaj   +1 more source

Report and follow-up on two new patients with congenital mesoblastic nephroma

Italian Journal of Pediatrics, 2023
Background Tumors are rare in neonatal age. Congenital mesoblastic nephroma (CMN) is a usually benign renal tumor observed at birth, or in the first months of life.
Gregorio Serra, Marcello Cimador, Mario Giuffrè, Vincenzo Insinga, Claudio Montante, Marco Pensabene, Ettore Piro, Sergio Salerno, Ingrid Anne Mandy Schierz, Giovanni Corsello   +9 more
doaj   +1 more source

Temporal Interference Stimulation of Centromedian‐Parafascicular Complex in Disorders of Consciousness: A Pilot Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Treatment of disorders of consciousness (DoC) remains a major clinical challenge, and noninvasive, targeted modulation of deep brain structures has emerged as a promising therapeutic strategy. We aimed to evaluate the feasibility/safety and preliminary effects of thalamic temporal interference stimulation (TIS) targeting centromedian‐
Gengyao Hu, Changgeng Song, Dianwei Wu, Xiaoqian Niu, Jianmin Hao, Lijuan Liu, Xiaogang Kang, Wen Jiang   +7 more
wiley   +1 more source

Journal Watch From ACE (Alliance For Clinical Education): Annual Review of Medical Education Articles in Internal Medicine Journals 2006-2007

, 2009
This journal watch is sponsored by the Alliance for Clinical Education (ACE). The purpose of this article is to summarize medical education manuscripts from specialty journals that are important and relevant to educators across specialties.
Torre, Dario, Fischer, Melissa, Mechaber, Alex J, Baker, Elizabeth A, O'Brien, Kevin, Hoellein, Andrew R, Battistone, Michael J, Dyrbye, Liselotte N, Durning, Steven J, Mintz, Matthew, Thomas, Matthew R   +10 more
core   +1 more source

Severe clinical immunodeficiency in a patient with human immunodeficiency virus infection and relatively high CD4 counts: a case report

Journal of Medical Case Reports, 2019
Background The coexistence of neuromeningeal cryptococcosis and Kaposi’s sarcoma is not surprising in a patient with human immunodeficiency virus infection and a low CD4 count, although it is rarely described.
Mickael Essouma, Larry N. Tangie, Mazou N. Temgoua, Ulrich Gabin Kenfack, Antonin N. Ndam, Celestin Danwang   +5 more
doaj   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source