Results 1 to 10 of about 101,716 (75)

Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism

Case Reports in Pediatrics, 2015
Netherton syndrome, a rare autosomal recessive genetic disorder, is classified as an ichthyosiform syndrome. In this report we present the case of a neonate with erythroderma shortly after birth, accompanied by severe hypernatremia, recurrent infections,
Chatziioannidis Ilias, Babatseva Evgenia, Patsatsi Aikaterini, Galli-Tsinopoulou Asimina, Sarri Constantina, Lithoxopoulou Maria, Mitsiakos George, Karagianni Paraskevi, Tsakalidis Christos, Mamuris Zissis, Nikolaidis Nikolaos   +10 more
doaj   +1 more source

Malignant hyperthermia crisis during scoliosis surgery in a pediatric cerebral palsy patient: a case of early recognition and successful intervention

Frontiers in Pediatrics
BackgroundMalignant hyperthermia (MH) is a rare but life-threatening complication of general anesthesia, characterized by a hypermetabolic response that can lead to severe complications if not managed promptly. Patients with neuromuscular disorders, such
Saleh M. Kardm, Abdulmonem Alsiddiky, Asim J. Alamri, Ravi Shankar Reddy   +3 more
doaj   +1 more source

Transaxillary endoscopic subfascial operation for persistent muscular torticollis in pediatric patients: A 13-year retrospective study in Taiwan

Pediatrics and Neonatology
Background: The endoscopic surgery for persistent muscular torticollis has been well-described and most are subcutaneous working caverns. As the sternocleidomastoid muscle is located beneath the deep cervical fascia that corresponds to the pectoral ...
Nai-Chen Cheng, Yu-Han Chen, Yu-Ling Wu, Yu-Tang Chang   +3 more
doaj   +1 more source

Back to the basics–risk factor identification of pediatric malignant lymphadenopathy proven by pathological studies

Pediatrics and Neonatology
Purpose: Lymphadenopathy (LAP) is a common problem in the pediatric patient. History, physical examinations (PE), ultrasounds, and blood tests were often obtained while studying such lesions.
Wei-Hsiang Su, Cheng-Che Wu, Chia-Man Chou, Sheng-Yang Huang, Hou-Chuan Chen   +4 more
doaj   +1 more source

Meta-analysis of the effects of levothyroxine therapy for subclinical hypothyroidism during pregnancy on offspring outcomes

Frontiers in Pediatrics
ObjectiveTo conduct a systematic evaluation of the impact of levothyroxine (L-T4) therapy on birth outcomes in pregnancies complicated by subclinical hypothyroidism (SCH).MethodsA thorough literature review was conducted across several databases ...
Zhiying You, Yayu Zhang, Sen Liu, Jia Li, Xiaofang Xu, Dan Song   +5 more
doaj   +1 more source

PURA syndrome—a genetic cause of a neurodevelopmental disorder—case report

Frontiers in Pediatrics
IntroductionPURA syndrome is a rare genetic disorder first described in the medical literature in 2014. It is caused by pathogenic variants in the PURA gene, which is located on chromosome 5.
Jacek Kobak, Mateusz Szczupak, Karolina Czerkiewicz, Sergiusz Bielocerkowski, Sabina Krupa-Nurcek   +4 more
doaj   +1 more source

Hearing loss in newborn infants with hypoxic ischaemic encephalopathy: protocol for a case–control study

BMJ Paediatrics Open
Introduction Hypoxic ischaemic encephalopathy (HIE), a condition where the brain does not receive enough oxygen and/or blood flow around the time of birth, is associated with significant morbidity and mortality.
Narendra Aladangady, Sujith Pereira, Milton D'costa   +2 more
doaj   +1 more source

Integrating the management of critical illness with palliative care: Public health implications

Journal of Pediatric Critical Care
Critical illnesses encompass a wide range of serious and life-threatening conditions that often require intensive care, including advanced life support, complex procedures, and prolonged stays in healthcare facilities.
Saurabh RamBihariLal Shrivastava, Prateek Sudhakar Bobhate, Anup Mukund Marar   +2 more
doaj   +1 more source

Perioperative care in pediatric OTC deficiency and goldenhar syndrome: a case report

Frontiers in Pediatrics
Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder disrupting the urea cycle in 1 per 56,000 births. Goldenhar syndrome (GS), characterized by craniofacial and vertebral anomalies, is seen in 1 per 3,000–5,000 births.
Daniela Torres Salazar, Daniela Torres Salazar, Andres Felipe Beltran, Andres Felipe Beltran, Sergio Alzate-Ricaurte, Sergio Alzate-Ricaurte   +5 more
doaj   +1 more source

Association Between Carbohydrate Quality Index During Pregnancy and Risk for Large-for-Gestational-Age Neonates: Results from the BORN 2020 Study

Children
Background/Objectives: To assess the association between early pregnancy carbohydrate quality, as measured by the Carbohydrate Quality Index (CQI), and the risk of delivering a large-for-gestational-age (LGA) infant in a Mediterranean pregnant cohort of ...
Antigoni Tranidou, Antonios Siargkas, Ioannis Tsakiridis, Emmanouela Magriplis, Aikaterini Apostolopoulou, Michail Chourdakis, Themistoklis Dagklis   +6 more
doaj   +1 more source