Loss-of-function SLC25A20 mutation causes carnitine-acylcarnitine translocase deficiency by reducing SLC25A20 protein stability.

Background/aim: Autosomal-recessive carnitine-acylcarnitine translocase deficiency (CACTD) is a rare disorder of long-chain fatty acid oxidation caused by variants in the SLC25A20 gene. Under fasting conditions, most newborns with severe CACTD experience sudden cardiac arrest and hypotonia, often leading to premature death due to rapid disease progression. Understanding of genetic factors and pathogenic mechanisms in CACTD is essential for its diagnosis, treatment, and prevention.

Analysis of deafness susceptibility gene of neonates in northern Guangdong, China.

This study aimed to explore the molecular epidemiology characteristics of deafness susceptibility genes in neonates in northern Guangdong and provide a scientific basis for deafness prevention and control. A total of 10,183 neonates were recruited between January 2018 and December 2022 at Yuebei People's Hospital. Among these, a PCR hybridization screening group of 8276 neonates was tested for four deafness genes: GJB2, SLC26A4, mtDNA, and GJB3 by PCR hybridization.

Molecular characterization of hemoglobinopathies and thalassemias in Northern Guangdong Province, China.

To detect the molecular characterization of hemoglobinopathies and thalassemias in Northern Guangdong Province of China.We recruited 10,285 subjects who were screened for hemoglobin (Hb) variants and thalassaemia genotypes in the outpatient department of Yuebei People's Hospital from January 2018 to December 2020. The subjects collected venous blood samples for blood cell parameter analysis and Hb electrophoresis analysis.

Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests.

Purpose: Multiple chromosomal aneuploidies may be associated with maternal malignancies and can cause failure of noninvasive prenatal screening (NIPS) tests. However, multiple chromosomal aneuploidies show poor specificity and selectivity for diagnosing maternal malignancies.

Methods: This multicenter retrospective analysis evaluated 639 pregnant women who tested positive for multiple chromosomal aneuploidies on initial NIPS test between January 2016 and December 2017.

Copy number variation profile in noninvasive prenatal testing (NIPT) can identify co-existing maternal malignancies: Case reports and a literature review.

Objective: The coexistence of maternal malignancy and pregnancy has received increasing attention in Noninvasive prenatal testing (NIPT) studies. Malignancy in pregnant women potentially affects the copy number variation (CNV) profile in NIPT results. Only one case of hematologic cancer has been reported in a Hong-Kong pregnant women, and solid tumors have never been reported in pregnant Chinese women.

Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results.

Objective: To present the experience on prenatal diagnosis of Wolf-Hirschhorn syndrome (WHS) to further delineate the fetal presentation of this syndrome.

Study Design: This was a retrospective analysis of ten pregnancies with fetal WHS identified by chromosomal microarray (CMA). Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, sonographic findings, CMA results and pregnancy outcomes.

[Multicenter analysis of risk factors and clinical characteristics of shoulder dystocia].

Objective: To explore the risk factors and clinical characteristics of shoulder dystocia.

Methods: The data of 44 580 single pregnancy and full-term head delivery were colleceted in the Third Affiliated Hospital of Guangzhou Medical University, Nanfang Hospital, Shenzhen Nanshan Hospital, Peking University Shenzhen Hospital and Yue Bei People's Hospital from January 2008 to September 2013. Totally 116 cases of shoulder dystocia were defined as the shoulder dystocia group, and the others were in the control group.

[Recombinant human epithelial growth factor accelerates healing of cervical erosion].

Objective: To observe the effect of recombinant human epithelial growth factor (rhEGF) in promoting the healing of cervical erosion.

Methods: Forty-eight patients with cervical erosion were treated with rhEGF and 30 with 500 kHz high-frequency electromagnetic wave, and the effects of the therapies were compared in terms of healing of the cervical wound, healing time, volume of vaginal discharge and bleeding and the lasting time.

Results: In comparison with radiofrequency therapy, the healing of the lesion took significantly shorter time with rhEGF therapy, which also resulted in less vaginal discharge that lasted for shorter time without causing vaginal bleeding.

[Placental expression of human histocompatibility antigen-G mRNA in idiopathic fetal growth restriction and its relationship with pathological changes of placenta].

Objective: To investigate the expressions of human histocompatibility antigen-G (HLA-G) mRNA in placenta of idiopathic fetal growth restriction (IFGR) and its relationship with pathogenesis of IFGR.

Methods: In situ hybridization was used to investigate the expression level and distribution of HLA-G mRNA in placentas of 20 cases of idiopathic IFGR and 28 cases of control group. HE stain was applied to observe the pathological changes of the placenta.