Results 61 to 70 of about 131,510 (260)

COMPARATIVE ANALYSIS OF THE MORBIDITY OF THE NEWBORNS BORN AT TERM AND PREMATURELY IN THE REPUBLIC OF MOLDOVA (RETROSPECTIVE DESCRIPTIVE STUDY)

Arta Medica, 2020
Introduction. Annually, in the world, 11% of all births are premature, and 1.0 of 6.0 million of infant mortality is associated with complications of premature babies. The aim of the paper is to make a comparative analysis of the morbidity of full-term
Galina Buta, Anatol Ciubotaru, Oleg Repin, Vasile Corcea, Iurie Guzgan, Zina Cobâleanu   +5 more
doaj  

Peribulbar block combined with general anesthesia in babies undergoing laser treatment for retinopathy of prematurity: a retrospective analysis [PDF]

Revista Brasileira de Anestesiologia, 2018
Background and objectives Currently there is no agreement regarding which one is the most adequate anesthetic technique for the treatment of retinopathy of prematurity.
Daniela Filipa Rodrigues Pinho, Cátia Real, Leónia Ferreira, Pedro Pina   +3 more
doaj   +3 more sources

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Patient management and principles of nutritional therapy in premature infants at the pediatric department [PDF]

РМЖ. Мать и дитя
L.A. Fedorova St. Petersburg State Pediatric Medical University, St. Petersburg, Russian Federation The advancement of perinatal care and neonatal technologies has led to an increase in the premature infant survival rate, including those with ...
L.A. Fedorova
doaj  

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Neonatologie/Pädiatrie – Leitlinie Parenterale Ernährung, Kapitel 13 [PDF]

, 2009
There are special challenges in implementing parenteral nutrition (PN) in paediatric patients, which arises from the wide range of patients, ranging from extremely premature infants up to teenagers weighing up to and over 100 kg, and their varying ...
Bauer, Karl, Böhles, Hansjosef, Fusch, Christoph, Jochum, Frank, Koletzko, Berthold, Krawinkel, Michael, Krohn, Kathrin, Mühlebach, Stefan   +7 more
core  

Congenital Chagas Disease in the United States: Cost Savings Through Maternal Screening [PDF]

, 2018
Chagas disease, caused by Trypanosoma cruzi, is transmitted by insect vectors through transfusions, transplants, insect feces in food, and from mother to child during gestation.
Bialek, Stephanie R., Montgomery, Susan P., Perez-Zetune, Victoria, Stillwaggon, Eileen   +3 more
core   +2 more sources

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Neonatal Graves' Disease with Maternal Hypothyroidism

American Journal of Perinatology Reports, 2017
Neonatal Graves' disease presenting as conjugated hyperbilirubinemia is a diagnostic challenge because the differential includes a gamut of liver and systemic diseases.
Gangaram Akangire, Alain Cuna, Charisse Lachica, Ryan Fischer, Sripriya Raman, Venkatesh Sampath   +5 more
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source