Results 61 to 70 of about 237,528 (287)

Growth Standards for Children With Smith–Magenis Syndrome (SMS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong, John McGready, Leah Fleming, Kerry Schulze, Folami Duncan, Alexis Leonard, Marie Christine de Blois Boucard, Danilo Moretti‐Ferreira, Andrea L. Gropman, Wendy J. Introne, Ann C. M. Smith   +10 more
wiley   +1 more source

The comparison of quality of life in mothers of premature and full-term infant referred to health centers in Sanandaj city

فصلنامه پرستاری،مامایی و پیراپزشکی, 2016
Background and Aim: premature birth and its caring is a stressful period which significantly affects the quality of parent’s life especially the mother. A study was conducted to compare the quality of life of mothers of premature infant and ...
Forouzan Lahoni, Fariba Ebtekar, Fardin Gharibi, Azita Masoudei, Azita Homilei   +4 more
doaj  

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Evaluation of Pediatricians' Perspectives on the Nutrition of Premature Infants

Forbes Tıp Dergisi
Objective: Nutrition is essential in managing premature infants, as proper practices reduce morbidity and mortality risks. Pediatricians must be knowledgeable and effectively implement nutrition guidelines for premature infants both in the neonatal ...
Mustafa Şenol AKIN, Mustafa Törehan ASLAN, İbrahim Murat HİRFANOĞLU, Fuat Emre CANPOLAT   +3 more
doaj   +1 more source

Airway malacia in premature infant twins with bronchopulmonary dysplasia: Two case reports

Clinical Case Reports, 2022
Premature infants who require surgery for retinopathy of prematurity often exhibit bronchopulmonary dysplasia. Reactive airway is a clinical manifestation of bronchopulmonary dysplasia.
Wanwan Yang, Jiuxiang Zhang, Dongxue Lu, Haopeng Zhang   +3 more
doaj   +1 more source

The effect of parent-administered infant massage on the developmental outcomes of premature infants

South African Journal of Occupational Therapy, 2021
Introduction: Prematurely born infants often have developmental delays in multiple areas when compared to infants born at term. Neuro-developmental supportive care techniques such as Kangaroo Mother Care (KMC) or infant massage have the potential to ...
Megan Campbell, Lizelle Jacobs
doaj   +1 more source

PREMATURE INFANTS [PDF]

Journal of the American Medical Association, 1922
According to the general use of the term, we designate as premature all infants who are born before the end of the normal term of pregnancy (forty weeks); but in common usage the term refers only to those infants whose gestation period was 260 days or less.
openaire   +1 more source

Three dimensional optical imaging of blood volume and oxygenation in the neonatal brain [PDF]

, 2006
Optical methods provide a means of monitoring cerebral oxygenation in newborn infants at risk of brain injury. A 32-channel optical imaging system has been developed with the aim of reconstructing three-dimensional images of regional blood volume and ...
Arridge, SR, Austin, T, Branco, G, Delpy, DT, Gibson, AP, Hebden, JC, Meek, JH, Wyatt, JS, Yusof, RM   +8 more
core   +1 more source

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

Skin-to-skin contact and deaths in newborns weighing up to 1800 grams: a cohort study

Jornal de Pediatria, 2022
Objective: To evaluate the association between dose of skin-to-skin contact (SSC) per day and initiation time with the occurrence of deaths in newborns with weight up to 1800g.
Marivanda J.F. Goudard, Zeni C. Lamy, Sérgio T.M. Marba, Milady C.V. Cavalcante, Alcione M. dos Santos, Vivian M.G.de O. Azevedo, Roberta Costa, Carolina N.M. Guimarães, Fernando Lamy-Filho   +8 more
doaj   +1 more source