Results 101 to 110 of about 54,455 (304)

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Nosocomial infections caused by gram-negative bacteria and prolonged stay in pediatric intensive care units

Revista Habanera de Ciencias Médicas, 2021
Introduction: Health care-associated infections due to gram-negative microorganisms are a frequent reason for admission to intensive care units and sometimes a consequence of the stay in them; the prolonged stay of patients in these units is associated ...
Aldo Miguel Agüero Milanés, Kenia Zusel Infante Rondón, Fred Enrique Delgado Llorca   +2 more
doaj  

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Mechanical ventilation practice in Egyptian pediatric intensive care units

Electronic Physician, 2017
Introduction: Mechanical ventilation is one of the indispensable tools in pediatric intensive care units. Few studies addressed the epidemiology of pediatric patients on mechanical ventilation and the frequently used modes of ventilation.
Bassant Salah Meligy, Sally Kamal, Seham Awad El Sherbini   +2 more
doaj   +1 more source

Continuous renal replacement therapy: understanding the foundations applied to pediatric patients [PDF]

, 2018
7 páginasContinuous renal replacement therapy (CRRT) is a well-established supportive treatment for acute kidney injury in pediatric intensive care units.
Sarmiento, Jaime Fernández, López, Eliana, Montoya, David, Obando, Evelyn   +3 more
core  

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Diabetic ketoacidosis in a pediatric intensive care unit

Jornal de Pediatria, 2017
To describe the characteristics of children aged 0-14 years diagnosed with diabetic ketoacidosis and compare the following outcomes between children with prior diagnosis of type 1 diabetes mellitus and children without prior diagnosis of type 1 diabetes mellitus length of hospital stay, severity on admission, insulin dosage, time of continuous insulin ...
Lopes, Clarice L.S., Pinheiro, Paula Pitta, Barberena, Luzia S., Eckert, Guilherme U.   +3 more
openaire   +7 more sources

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Centralization and transport of critically ill pediatric patients

Frontiers in Pediatrics
BackgroundCaring for critically ill pediatric patients requires specialized expertise, centralized facilities, and efficient transport systems. The centralization of pediatric intensive care units in tertiary centers has enhanced clinical outcomes ...
Ryo Kamidani, Ryo Kamidani, Hideshi Okada, Hideshi Okada   +3 more
doaj   +1 more source

A guide for pediatric intensive care units: propositions from pediatric emergency medicine and intensive care society [PDF]

, 2006
The importance of pediatric intensive care medicine is being more generally accepted in our country as services become more widely available. Indeed, important developments occurred in this field in recent years. The aim of these guidelines is to provide
Karabocuoglu, Metin, KÖROĞLU, TOLGA FİKRİ, Kendirli, Tanil, Yildizdas, Dincer, BAYRAKCİ, BENAN, DURSUN, OĞUZ   +5 more
core