Results 31 to 40 of about 31,475 (257)

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

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

MODELLING AND CONTROL OF ARTERIAL OXYGEN SATURATION IN NEONATAL INFANTS

Diyala Journal of Engineering Sciences, 2015
This paper presents design a closed loop oxygen controller for the supplement oxygen to the newborn infant. The most problem for premature infants is respiratory distress syndrome (RDS), also called neonatal respiratory distress syndrome, or respiratory
Lafta Ismaeel Jumaa
doaj  

Alveolar capillary dysplasia with misalignment of pulmonary veins in a premature newborn: the role of lung ultrasound

The Ultrasound Journal, 2023
Background Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a lethal neonatal lung disorder characterized by the decrease of the alveolar units, abnormalities in the air–blood barrier of the lung, and impaired gas exchange ...
Macarena L. Atun, Silvia A. Fernandez Jonusas, Cecilia M. Acosta   +2 more
doaj   +1 more source

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

Application broncho-phonography investigation for an estimation of respiratory frustration at immature infants with a respiratory distress-syndrome

Бюллетень сибирской медицины, 2010
Respiratory distress syndrome of the newborn is a basic pathobiology immature infants and this grave condition of early neonatal period often is the cause of chronic lung disease — bronchopulmonary dysplasia (BPD).
Ye. B. Pavlinova, T. B. Oksenchuk, L. A. Krivtsova   +2 more
doaj   +1 more source

Neonatal Respiratory Distress Secondary to Meconium Aspiration Syndrome

Children, 2021
Infants born through meconium-stained amniotic fluid (MSAF) are 100 times more likely than infants born through clear amniotic fluid to develop respiratory distress in the neonatal period.
Arielle L. Olicker, Thomas M. Raffay, Rita M. Ryan   +2 more
doaj   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

CLINICAL VALUE OF MONITORING OF PROCALCITONIN LEVEL IN BLOOD DURING ARTIFICIAL LUNG VENTILATION IN NEWBORNS WITH RESPIRATORY DISTRESS SYNDOME

Вестник анестезиологии и реаниматологии, 2017
The purpose of the trial is to assess the informative value of procalcitonin level in blood when diagnosing infectious complications of lower respiratory tract during lung ventilation in newborns with respiratory distress syndrome. The trial was designed
P. I. Mironov, V. A. Rudnov
doaj   +1 more source

Neonatal interstitial lung disease in a girl with Jacobsen syndrome: a case report

Journal of Medical Case Reports, 2022
Background We report a case of the neonatal interstitial lung disease pulmonary interstitial glycogenosis in a girl with Jacobsen syndrome. While Jacobsen syndrome is caused by a deletion on the long arm of chromosome 11 and is genetically confirmed ...
Marit Lunde Dalen, Natalya Filipchuk Vigerust, Clara Hammarström, Henrik Holmstrøm, Jannicke Hanne Andresen   +4 more
doaj   +1 more source