Results 71 to 80 of about 237,528 (287)

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

open access: yes, 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   +10 more
core   +2 more sources

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

open access: yesAmerican 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   +4 more
wiley   +1 more source

Fatal Cronobacter sakazakii Sequence Type 494 Meningitis in a Newborn, Brazil

open access: yesEmerging Infectious Diseases, 2018
We describe a case of infection with Cronobacter sakazakii sequence type 494 causing bacteremia and meningitis in a hospitalized late premature infant in Brazil.
Cláudia Elizabeth Volpe Chaves   +8 more
doaj   +1 more source

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

open access: yesAmerican 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   +14 more
wiley   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes   +3 more
wiley   +1 more source

The Effect of Family-centered Care Program on Maternal Attachment in Mothers of Premature Infants

open access: yesMajallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 2017
BACKGROUND AND OBJECTIVE: The birth of a premature infant is associated with long – term hospitalization and separation from family. Hospitalization of the infant affects the attachment between the infant and mother and affects the quality of care given ...
H Zeraati   +5 more
doaj  

EFFECT OF KANGAROO MOTHER CARE (KMC) ON THE FORMATION OF MATERNAL-INFANT ATTACHMENT BETWEEN MOTHERS AND PREMATURE BABIES: A LITERATURE REVIEW

open access: yesNurse and Health
Background: Nursing care of premature babies in the Neonatal Intensive Care Unit (NICU) setting can inhibit the maternal-infant attachment. One of the evidence-based interventions for premature babies is Kangaroo Mother Care (KMC).
Zubaidah Zubaidah, Ayu Diah Safitri
doaj   +1 more source

ANETODERMA CASE IN A PREMATURE INFANT

open access: yesПедиатрическая фармакология, 2013
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E. I. Pilguy   +3 more
doaj   +1 more source

Total parenteral nutrition and carnitine supplementation practices in preterm neonates - results of a national survey [PDF]

open access: yes, 2013
Thesis (M.A.)--Boston UniversityBackground: The goal of postnatal total parenteral nutrition (TPN) in premature neonates (PT) is to mimic the intrauterine environment of the fetus. Micronutrients are essential for optimal development.
Khalid, Sabeen
core   +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales   +6 more
wiley   +1 more source

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