Pediatria (Bucur) 1969 Jan-Feb;18(1):23-32
J Int Med Res 2020 Aug;48(8):300060520936445
Department of Pediatrics, Qilu Hospital of Shandong University, Jinan, Shandong, China.
We report a case of a Chinese neonate who was diagnosed with Noonan syndrome and had persistent, self-limited thrombocytopenia. The neonate was admitted to the Neonatology Department 20 minutes after birth because of respiratory distress. From birth until 2 months of age, platelet values fluctuated between approximately 6 and 30 × 10/L. Read More
Orphanet J Rare Dis 2020 01 21;15(1):24. Epub 2020 Jan 21.
Department of Endocrinology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Binsheng Rd, Hangzhou 310052, China.
Background: Prader-Willi syndrome (PWS) is a rare and complex genetic disorder caused by lacking expression of imprinted genes on the paternally derived chromosome 15q11-q13 region. This study aimed to characterize the perinatal features of 134 Chinese individuals with PWS.Methods: This study included the patients of a PWS registry in China. Read More
Curr Pediatr Rev 2019 ;15(3):139-153
Neonatal Intensive Care Unit, AOU and University of Cagliari, SS 554 km 4,500, 09042 Monserrato, Italy.
Congenital Central Hypoventilation Syndrome (CCHS), also referred with the expression "Ondine's Curse", is a rare genetic life-long disease resulting from the mutation of PHOX2B gene on chromosome 4p12.3. CCHS represents an autonomic nervous system disorder; its more fearsome manifestation is central hypoventilation, due to a deficient response of chemoreceptors to hypercapnia and hypoxia. Read More
Psychiatr Danub 2017 Dec;29 Suppl 4(Suppl 4):812-815
Clinic of Gynecology and Obstetrics of the University Clinical Hospital Mostar, University Clinical Hospital Mostar, Bijeli Brijeg bb, 88000 Mostar, Bosnia and Herzegovina,
Aim: To determine the frequency and type of complications in two cohort groups of preterm newborns.Subjects And Methods: The research involved 100 preterm newborns divided into two groups according to their gestational age: newborns from 24 to 33+6/7 weeks GA and newborns from 34 to 36+6/7 weeks GA. Parameters which were observed with mother were: age, number of births, course and complications in pregnancy. Read More
J Pediatr Neurosci 2016 Jan-Mar;11(1):25-8
Department of Anatomy, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.
Introduction: Perinatal asphyxia is a major cause for neonatal mortality and morbidity around the world. The reduction of O2 results in the generation of reactive oxygen species which interact with nucleic acid and make alteration in the structure and functioning of the genome. We studied the effect of therapeutic hypothermia on chromosomes with karyotyping. Read More