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Sci Rep 2022 Aug 9;12(1):13581. Epub 2022 Aug 9.

Medical Genetics Institute, Ho Chi Minh City, Vietnam.

α-Thalassemia is a common inherited blood disorder manifested mainly by the deletions of α-globin genes. In geographical areas with high carrier frequencies, screening of α-thalassemia carrier state is therefore of vital importance. This study presents a novel method for identifying female carriers of common α-thalassemia deletions using samples routinely taken for non-invasive prenatal tests for screening of fetal chromosomal aneuploidies. Read More

Healthcare (Basel) 2022 Jun 27;10(7). Epub 2022 Jun 27.

Instituto Nacional de Saúde (INS), EN1, Bairro da Vila-Parcela nº 3943, Distrito de Marracuene, Maputo 1120, Mozambique.

The World Health Organization's systems framework shows that service delivery is key to addressing pressing health needs. Inadequate healthcare and the lack of healthcare services are factors associated with undernutrition and diarrhea in children under five, two health conditions with high morbi-mortality rates in Mozambique. The aim of the analysis was to determine the readiness score of nutrition and diarrhea services for children under five and the influence of malaria and HIV (Human Immunodeficiency Virus) service readiness on the readiness of these two services. Read More

Child Abuse Negl 2022 Sep 11;131:105783. Epub 2022 Jul 11.

Department of Psychological Sciences, Swinburne University of Technology, Hawthorn, Victoria, Australia.

Background: Little is known about the relationship between childhood maltreatment and well-being in young adults, including the role of post-traumatic growth (PTG) in promoting better outcomes for young adults who have a history of childhood maltreatment (HCM).

Objective: To examine the relationship between child maltreatment and well-being among young adults, by considering the perpetrator and the extent of the maltreatment, as well as PTG among young adults with a HCM.

Participants And Setting: The sample comprised 537 young adults (aged 18-25; M = 21. Read More

Front Genet 2022 13;13:915129. Epub 2022 Jun 13.

Department of Pediatric Cardiology, Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.

Common cardiac abnormalities in Noonan syndrome (NS) include congenital heart diseases (CHD), pulmonary valve stenosis and hypertrophic cardiomyopathy (HCM). Molecular diagnoses are enabling earlier and more precise diagnosis of patients who have a subtle or atypical presentation. The aims of this study were to investigate genotype-phenotype associations with respect to Noonan syndrome (NS)-associated cardiac abnormalities and catheter or surgery-based interventions conditions. Read More

EClinicalMedicine 2022 Jul 27;49:101466. Epub 2022 May 27.

Department of Cardiology, Shanghai Children's Medical Centre, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.

Background: Few data on paediatric hypertrophic cardiomyopathy (HCM) are available in developing countries. A multicentre, retrospective, cohort study was conducted to profile the clinical characteristics and survival of children with HCM in China.

Methods: We collected longitudinal data on children with HCM aged 0-18 years at three participating institutions between January 1, 2010 and December 31, 2019. Read More