Results 51 to 60 of about 16,102 (215)

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

Congenital diaphragmatic hernia

Emergency Medicine Journal, 2008
A female infant aged 5.5 months of Balkan origin arrived at the emergency department of our hospital with fever of 38.8°C, tachypnoea of 60 breaths per minute, heart rate of 110 beats per minute and oxygen saturation of 100%. The patient was admitted to the Paediatric Clinic and underwent full laboratory and culture tests, which were negative for ...
A A K, Kotis, P, Tsikouris, L, Guindaglia   +2 more
openaire   +4 more sources

Left posterolateral strangulated congenital diaphragmatic hernia in children: About a case at the Charles de Gaulle Paediatric Teaching Hospital in Ouagadougou (Burkina Faso)

African Journal of Paediatric Surgery, 2015
Late presentation of congenital diaphragmatic hernia is uncommon. It poses considerable diagnostic challenges when it strangulates. The authors report a case of a left posterolateral strangulated congenital diaphragmatic hernia in a 5-year-old child ...
Emile Bandré, Albert Wandaogo, Isso Ouedraogo, Madina Napon, Bernadette Béré, Yvette Kabré, Toussaint Wend Lamita Tapsoba, Francis Somkieta Ouédraogo   +7 more
doaj   +1 more source

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

A novel central line securement vest reduces line trauma and improves quality of life in patients with intestinal failure

JPGN Reports, EarlyView.
Abstract Objective We sought to assess the impact of a novel central line securement vest on the rate of line complications (trauma, infections, and replacements), and measures of quality of life (QOL) in pediatric patients with intestinal failure. Methods We enrolled patients at a single tertiary pediatric center.
Ryan E. St. Pierre‐Hetz, Kimberly S. Ackerman, Angelica M. Cercone, Jane Anne Yaworski, Clifton W. Callaway, Jeffrey A. Rudolph, Mioara D. Manole   +6 more
wiley   +1 more source

Congenital diaphragmatic hernia

The Turkish Journal of Thoracic and Cardiovascular Surgery
Congenital diaphragmatic hernia (CDH) is a rare developmental defect of the diaphragm, characterized by the herniation of abdominal contents into the chest, resulting in varying degrees of pulmonary hypoplasia and pulmonary hypertension. Significant advances in the prenatal diagnosis and identification of prognostic factors have resulted in the ...
Ersöz Köse, Elçin, Yalçınkaya, İrfan   +1 more
openaire   +2 more sources

Predicting Perinatal Outcomes in Fetuses with Congenital Diaphragmatic Hernia Using Ultrasound and Magnetic Resonance Imaging

Maternal-Fetal Medicine, 2021
. Congenital diaphragmatic hernia is a congenital fetal disease, which mainly causes pulmonary hypoplasia and pulmonary hypertension. Effective early prenatal diagnosis can detect and predict the prognosis of congenital diaphragmatic hernia in infants ...
Jun Huang, Hongli Liu, Haiyan Hu, Li Zhang, Ping Cai, Yonggang Li, Junnan Li, Dandan Shi   +7 more
doaj   +1 more source

AGRN‐, LRP4‐, MUSK‐Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles, Damien Sternberg, Marie‐Christine Nougues, Arnaud Isapof, Bruno Eymard, Stéphanie Bauché   +5 more
wiley   +1 more source

Congenital intrapericardial diaphragmatic hernia presenting radiologically as massive cardiomegaly

African Journal of Paediatric Surgery, 2013
Intrapericardial diaphragmatic hernia is uncommon condition in which abdominal content herniate into the pericardium. It is mostly of traumatic origin, sometimes it is congenital.
Wilson E Sadoh, Stanley U Okugbo
doaj   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Thoracic Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aims to identify the imaging findings specifically for thoracic anomalies in 1200 Micro‐CT cases, independent of whether the abnormality contributed to the main diagnosis or cause of death. Method We analyzed 1200 Micro‐CT scans in an unselected, consecutive cohort between 2017 and 2024 to identify thoracic anomalies ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source