Results 61 to 70 of about 259,792 (333)

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

Early gut microbiota intervention in premature infants: Application perspectives

Journal of Advanced Research, 2023
Background: Preterm birth is the leading cause of death in children under the age of five. One of the major factors contributing to the high risk of diseases and deaths in premature infants is the incomplete development of the intestinal immune system ...
Quanhang Xiang, Xudong Yan, Wei Shi, Huiping Li, Kai Zhou   +4 more
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

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

A Spectrophotofluorometric Analysis of Serum Vitamin A Levels in a Defined Population [PDF]

, 1976
The objectives of this thesis were to examine serum vitamin A levels in two defined populations. The method of analysis was a spectrophotofluorometric technique with a correction formula to account for interfering fluorescence from an identified ...
Schroeder, James Ronald
core   +1 more source

NICU Infants & SNHL: Experience of a western Sicily tertiary care centre [PDF]

, 2019
Introduction: The variability of symptoms and signs caused by central nervous system (CNS) lesions make multiple sclerosis difficult to recognize,Introduction: This study adds the evaluation of the independent etiologic factors that may play a role in ...
Abita P, Alberti G, Caminiti F, Gargano R, Gazia F, Longo P, Loteta S   +6 more
core   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

FEATURES OF INTENSIVE NUTRITIONAL SUPPORT OF PREMATURE INFANTS IN THE POSTRESUSCITATION PERIOD AFTER DISCHARGE FROM HOSPITAL (PART 2)

Педиатрическая фармакология, 2011
This review considers specific problems of premature infants in the first year of life related to nutritional deficiencies and lack of basic food nutrients. The features of nutritional support of premature infants who underwent resuscitation phase in the
K.V. Romanenko, A.P. Averin, A.F. Kiosov, A.I. Gaeva, N.Yu. Bogachev   +4 more
doaj   +2 more sources

Probiotic administration in congenital heart disease: a pilot study. [PDF]

, 2013
ObjectiveTo investigate the impact of probiotic Bifidobacterium longum ssp. infantis on the fecal microbiota and plasma cytokines in neonates with congenital heart disease.Study designSixteen infants with congenital heart disease were randomly assigned ...
Bokulich, NA, Ellis, CL, Elumalai, J, Haapanen, L, Kalanetra, KM, Mills, DA, Mirmiran, M, Raff, G, Rutledge, JC, Schegg, T, Underwood, MA   +10 more
core   +2 more sources

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source