Results 11 to 20 of about 26,981 (283)

Newborn morbidities and care procedures at the special newborn care units of Gandaki Province, Nepal: a retrospective study [PDF]

BMC Pregnancy and Childbirth
Background Despite recent improvements in the overall health status of Nepal’s population, newborn morbidities and mortalities have remained a challenge.
Khim Bahadur Khadka, Nabina Koirala, Olena Ivanova, Ramchandra Bastola, Dela Singh, Kamala Rana Magar, Bidhya Banstola, Ramesh Prasad Adhikari, Vincentas Giedraitis, Deepak Paudel, Guenter Froeschl   +10 more
doaj   +2 more sources

Surfactant Therapy in Late Preterm Infants with Respiratory Distress in Türkiye: An Observational, Prospective, Multicenter Study [PDF]

Turkish Archives of Pediatrics
Objective: Surfactant therapy (ST) is commonly used in late preterm (LPT) infants with respiratory distress despite a lack of definitive recommendation for these infants.
Sumru Kavurt, Nihal Demirel, İstemi Han Çelik, Ahmet Yagmur Bas, Makbule Ercan, Beyza Özcan, Zehra Aslan, Demet Oğuz, Musa Turgut, Melike Kefeli Demirel, Nilay Hakan, Ali Bülbül, Kadir Tekgündüz, Samet Benli, Hüseyin Altunhan, Murat Konak, Ferda Ozlü, Oğuz Tuncer, Ozge Aydemir   +18 more
doaj   +2 more sources

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source

Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy

Human Mutation, Volume 43, Issue 12, Page 1970-1978, December 2022., 2022
Abstract Primary mitochondrial diseases are a group of genetically and clinically heterogeneous disorders resulting from oxidative phosphorylation (OXPHOS) defects. COX11 encodes a copper chaperone that participates in the assembly of complex IV and has not been previously linked to human disease. In a previous study, we identified that COX11 knockdown
Rocio Rius, Neal K. Bennett, Kaustuv Bhattacharya, Lisa G. Riley, Zafer Yüksel, Luke E. Formosa, Alison G. Compton, Russell C. Dale, Mark J. Cowley, Velimir Gayevskiy, Saeed M. Al Tala, Abdulrahman A. Almehery, Michael T. Ryan, David R. Thorburn, Ken Nakamura, John Christodoulou   +15 more
wiley   +1 more source

ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus‐specific patient database

Human Mutation, Volume 43, Issue 12, Page 1673-1705, December 2022., 2022
Abstract Loss‐of‐function variants in the ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) cause ENPP1 Deficiency, a rare disorder characterized by pathological calcification, neointimal proliferation, and impaired bone mineralization. The consequence of ENPP1 Deficiency is a broad range of age dependent symptoms and morbidities
Stephanie A. Mercurio, Lauren M. Chunn, Gus Khursigara, Catherine Nester, Kathleen Wray, Ulrike Botschen, Mark J. Kiel, Frank Rutsch, Carlos R. Ferreira   +8 more
wiley   +1 more source

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

Human Mutation, Volume 43, Issue 12, Page 2265-2278, December 2022., 2022
Abstract A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane‐tethering protein complexes, HOPS, and CORVET. Whole exome sequencing identified a novel VPS33A mutation in a patient suffering from a variant form of
Elena V. Pavlova, Dorit Lev, Marina Michelson, Keren Yosovich, Hila Gur Michaeli, Nicholas A. Bright, Paul T. Manna, Veronica Kane Dickson, Karen L. Tylee, Heather J. Church, J. Paul Luzio, Timothy M. Cox   +11 more
wiley   +1 more source

The Silverman–Andersen scale in the assessment of respiratory distress syndrome in preterm infants: clinical and prognostic significance

Акушерство, гинекология и репродукция, 2023
The article discusses the historical features of the clinical formation of the diagnostic criteria of the Silverman-Andersen scale in the assessment of respiratory distress syndrome in preterm infants.
O. V. Zavyalov, I. V. Ignatko, L. I. Il’enko, I. N. Pasechnik   +3 more
doaj   +1 more source

Transient respiratory distress syndrome in the newborn. [PDF]

Archives of Disease in Childhood, 1967
The variable duration and severity of the respiratory distress syndrome (RDS) make it difficult to assess any therapeutic regime. We have observed 12 infants who at age 4 hours had clinical and biochemical findings indicative of moderate to severe respiratory distress syndrome but who improved rapidly with a standard therapeutic regime, their ...
Grant Morrow, Subhash Arya, John J. Downes, Thomas R. Boggs   +3 more
openaire   +3 more sources

Large Neck Teratoma in a Newborn with Respiratory Distress Syndrome [PDF]

PRILOZI, 2021
Abstract Neonatal tumours in the neck region are a rare finding. Teratomas typically comprise all three germ cell layers with tissues usually foreign to the anatomic site of origin. Head and neck teratomas account a smaller part of congenital teratomas.
Orhideja Stomnaroska, Goran Kocovski, Gordana Petrusevska, Boro Ilievski, Panche Zdravkovski, Rubens Jovanovic   +5 more
openaire   +2 more sources

Serum Prolactin and Respiratory Distress Syndrome in the Newborn [PDF]

Pediatric Research, 1980
Prolactin levels were measured in cord blood by radioimmunoassay in 57 premature infants between 26 and 36 weeks of gestation. The level of prolactin was in the range of 20 to 600 ng/ml. Twenty-three of the infants subsequently developed respiratory distress syndrome (RDS). The mean cord prolactin in the infants with RDS was 140 +/- 30.7 ng/ml, whereas
Darlene K. Mullon, Paul Hamosh, Margit Hamosh, John W Scanlon, Yolande F. Smith   +4 more
openaire   +2 more sources