Results 21 to 30 of about 81,200 (264)

Concomitant Mutations in the Thyroglobulin and SLC26A4 Genes Leading to Fetal Goiter and Congenital Hypothyroidism in a Patient With Pendred Syndrome

Case Reports in Endocrinology
We described new forms of thyroglobulin gene (TG) mutation resulting in fetal goiter and congenital hypothyroidism in a pendred syndrome (PS) patient. Fetal hypothyroidism was diagnosed, based on ultrasonographic evidence of goiter alongside with fetal ...
Valeria Calcaterra, Mariano Lanna, Elisa Ligato, Alberto Dolci, Arianna Laoreti, Irene Daniele, Elisa Cattaneo, Gianluca Lista, Valeria Savasi, Gianvincenzo Zuccotti   +9 more
doaj   +1 more source

Comprehensive Management of Child Maltreatment Syndrome: A Case Study and Clinical Implications in An Infant

Quality in Sport
Introduction and purpose   The World Health Organization (WHO) defines violence against children as “all forms of physical and emotional maltreatment, sexual abuse, neglect and exploitation that result in actual or potential harm to a child's ...
Emilia Kowalczyk, Sylwia Koziej, Joanna Borkowska, Julia Bajorek   +3 more
doaj   +1 more source

Carcinomas and Carcinoid Tumors of the Lungs and Bronchi in Children and Adolescents: The EXPeRT Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Primary lung carcinomas and bronchial carcinoid tumors (BC) are very rare malignancies in childhood. While typical BC and mucoepidermoid carcinomas are mostly low‐grade, localized tumors with a more favorable prognosis than in adults, necessitating avoidance of overtreatment, adenocarcinomas of the lung are often diagnosed at advanced disease ...
Michael Abele, Calogero Virgone, Michaela Kuhlen, Sabine Irtan, Yves Reguerre, Malgorzata Krawczyk, Ewa Bien, Tal Ben‐Ami, Maja Cesen, Ricardo Lopez‐Almaraz, Andrea Ferrari, Gianni Bisogno, Dominik T. Schneider, Abbas Agaimy, Constantin Lapa, Hubert Ducou le Pointe, Rainer Claus, Catherine Daniel, Ines B. Brecht, Daniel Orbach   +19 more
wiley   +1 more source

Melatonin: A Potential Candidate for the Treatment of Experimental and Clinical Perinatal Asphyxia

Molecules, 2023
Perinatal asphyxia is considered to be one of the major causes of brain neurodegeneration in full-term newborns. The worst consequence of perinatal asphyxia is neurodegenerative brain damage, also known as hypoxic-ischemic encephalopathy.
Ryszard Pluta, Wanda Furmaga-Jabłońska, Sławomir Januszewski, Agata Tarkowska   +3 more
doaj   +1 more source

Molecular Methods for Rare Hemoglobinopathy Cases: First Brazilian Report of Pediatric Siblings with Hb O‐Arab and Alpha‐Thalassemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Hemoglobinopathies are prevalent globally; diagnosis is complex in high genetic admixture populations like Brazil. We report, in two pediatric siblings, the first documented cases in Brazil of heterozygosity for hemoglobin (Hb) O‐Arab with coinheritance of α‐thalassemia (αα/−α4.2; −α3.7/−α4.2), resulting in microcytic and hypochromic anemia ...
Elisângela de Souza Miranda Muynarsk, Amanda Cristina Meneguetti Berti, Bárbara Braga Vieira Marques, Victoria Simões Bernardo, Flaviene Felix Torres, Ingrid Souza Dias, Vanessa da Silveira Ramos de Castro, Gabriela Alves Bernardino, Danilo Grünig Humberto da Silva, Edis Belini‐Júnior   +9 more
wiley   +1 more source

Awareness of Menstrual Abnormalities among Female Nursing Students at the University of Sulaimani

UHD Journal of Science and Technology
Background: The menstrual cycle, which occurs on a monthly basis from menarche to menopause and facilitates fertilization and conception, is a normal function in the female reproductive system. A 28-day cycle is the typical length.
Peshwaz Abdulrahman Ahmad, Amani Fadhil Abbas, Nazera Salam Mena Qadir   +2 more
doaj   +1 more source

By dawn or dusk—how circadian timing rewrites bacterial infection outcomes

FEBS Letters, EarlyView.
The circadian clock shapes immune function, yet its influence on infection outcomes is only beginning to be understood. This review highlights how circadian timing alters host responses to the bacterial pathogens Salmonella enterica, Listeria monocytogenes, and Streptococcus pneumoniae revealing that the effectiveness of immune defense depends not only
Devons Mo, Catherine S. Palmer, Jacqueline M. Kimmey   +2 more
wiley   +1 more source

The newfound relationship between extrachromosomal DNAs and excised signal circles

FEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

Analyzing Nurses Midwives' Experience and its Influence on Knowledge and Performance in Postpartum Hemorrhage Management

Kufa Journal for Nursing Sciences
Background: Postpartum haemorrhage (PPH) stands as the foremost contributor to maternal mortality rates worldwide. It represents the most prevalent form of obstetric haemorrhage, with even healthy mothers facing potential fatality within a mere two-hour
Atiya Mohammed, Tebin Jihan
doaj   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source