Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening.

Background: Tandem mass spectrometry (MS/MS) is a crucial technique for detecting inborn errors of metabolism (IEM) in newborns. However, the high false positive rate poses challenges in diagnosing specific types of diseases. Therefore, this study aimed to evaluate the role of targeted next-generation sequencing (NGS) in the accurate diagnosis of positive samples identified through MS/MS screening.

The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China.

Background: Genetic diseases exhibit significant clinical and genetic diversity, leading to a complex and challenging diagnostic process. Exploiting novel approaches is imperative for the molecular diagnosis of genetic diseases. In this study, we utilized whole-exome sequencing (WES) to facilitate early diagnosis in patients suspected of genetic disorders.

The performance evaluation of NIPT for fetal chromosome microdeletion/microduplication detection: a retrospective analysis of 68,588 Chinese cases.

Background: Chromosomal abnormalities are the main cause of birth defects in newborns. Since the inception of noninvasive prenatal testing (NIPT) technology, it has primarily been applied to the detection of common trisomy (T21, T18, T13). However, the application of NIPT in microdeletion and microduplication detection is still controversial.

The long-term effects of blood urea nitrogen levels on cardiovascular disease and all-cause mortality in diabetes: a prospective cohort study.

Background: The long-term effects of blood urea nitrogen(BUN) in patients with diabetes remain unknown. Current studies reporting the target BUN level in patients with diabetes are also limited. Hence, this prospective study aimed to explore the relationship of BUN with all-cause and cardiovascular mortalities in patients with diabetes.

The effect of serum calcium on the association of depression with infertility among U.S. women.

Unlabelled: This study aimed to explored the association between depressive symptoms and infertility among U.S. women, and the effect of serum calcium on this association.

Prevalence and genetic analysis of triplicated α-globin gene in Ganzhou region using high-throughput sequencing.

α-globin gene triplication carriers were not anemic in general, while some studies found that α-globin gene triplication coinherited with heterozygous β-thalassemia may cause adverse clinical symptoms, which yet lacks sufficient evidence in large populations. In this study, we investigated the prevalence and distribution of α-globin gene triplication as well as the phenotypic characteristics of α-globin gene triplication coinherited with heterozygous β-thalassemia in Ganzhou city, southern China. During 2021-2022, a total of 73,967 random individuals who received routine health examinations before marriage were genotyped for globin gene mutations by high-throughput sequencing.

Association between magnesium intake and the risk of anemia among adults in the United States.

Background: Magnesium deficiency is related to an increased risk of anemia, but epidemiological evidence supporting this association remains scarce. The purpose of the present survey was to evaluate the relationship between dietary magnesium intake and the risk of anemia.

Methods: In total, 13,423 participants aged 20-80 years were enrolled using data from the National Health and Nutrition Examination Survey 2011-2016.

Dietary zinc intake and body mass index as modifiers of the association between household pesticide exposure and infertility among US women: a population-level study.

Clinical studies on the relationship between pesticide exposure at home and infertility in the general population are scarce. Whether the antioxidant nutrients or other health-related factors affect the pesticide-infertility relationship remains unknown. This nationwide study screened 29,400 participants of the National Health and Nutrition Examination Surveys conducted between 2013 and 2018.

Dietary Magnesium Intake Ameliorates the Association Between Household Pesticide Exposure and Type 2 Diabetes: Data From NHANES, 2007-2018.

Aims/hypothesis: This study aimed to explore whether household pesticide exposure in the general population increased the risk of developing type 2 diabetes and whether intake of dietary magnesium could lower type 2 diabetes from household pesticide exposure.

Methods: For this cross-sectional study, we obtained the data of 9,187 United States adults from the National Health and Nutrition Examination Surveys, 2007-2018. Participants were subdivided into two groups based on the amount of daily dietary magnesium in the population: low group: <175 mg/day and high group: ≥175 mg/day.

Characterization of a novel HBB:c.194dup variant of the -globin gene combined with six alpha genes.

β-thalassemia (β-thal) is one of the most prevalent inherited blood disorders in Ganzhou, south China. Next-generation sequencing was used to screen for thalassemia carriers in the general population. During the screening, we identified a novel β-thal variant in a 46-year-old Chinese man, which was validated by Sanger sequencing.

The efficacy and safety of Sacubitril/Valsartan in the treatment of chronic heart failure: a meta-analysis.

Objective: A meta-analysis of the studies involving Sacubitril/Valsartan in chronic heart failure was performed to compare the efficacy and safety of Sacubitril/Valsartan with traditional drug therapy in chronic heart failure.

Methods: We searched databases from PubMed, EMBASE, the Cochrane Library, Web of Science, and clinicaltrials.gov for studies published between 2010 and 2020 that reported efficacy and safety following Sacubitril/Valsartan administration.

Elevated Hb A is Not Always Indicative of β-Thalassemia.

Hb A levels are usually high in carriers of β-thalassemia (β-thal). These levels also provide a sensitive marker for the identification of hemoglobin (Hb) variants. In this study, we aimed to examine two patients from two Chinese families who showed elevated Hb A levels but did not show any signs of β-thal.

A novel β-thalassemia variant at HBB:c.14delC (Codon 4, -C) identified via next-generation sequencing.

Objectives: β-Thalassemia (β-thal) is a genetic disease of the blood caused by mutations in the β-globin gene. Conventional methods for detecting thalassemia variants often miss rare and novel variants. Identifying the rare and novel β-thal variants, especially in the high prevalence regions, would enable better disease prevention.

A child with a novel DDX3X variant mimicking cerebral palsy: a case report.

Background: Cerebral palsy (CP) is a non-progressive disorder of movement and posture due to a static insult to the brain. In CP, the depth of investigation is guided by the patients' medical history and their clinical examination. Magnetic resonance imaging (MRI) has a high yield and is widely used for investigation in CP.

A 47,XXY Pregnant Woman without the SRY Gene.

Individuals with a 47,XXY karyotype usually present with a male phenotype due to the additional Y chromosome. In this paper, we describe a 47,XXY female who was pregnant with a fetus of the same karyotype based on chromosome analysis of amniotic fluid cells. Further analysis of her Y chromosome indicated that the additional Y chromosome contains no SRY gene on the short arm but carries the azoospermia factor region on the long arm, including azoospermia factor a, b and c (AZFa, AZFb, AZFc).

A Novel β-Thalassemia Mutation in a Chinese family: IVS-II-203-205 (TCT>CC) (HBB: c.315+203TCT>CC).

β-Thalassemia (β-thal) is one of the most common inherited disorders in southern China. More than 300 β-globin gene mutations around the world have been reported in the HbVar database. In this study, a novel mutation in a 30-year-old Chinese woman [IVS-II-203-205 (TCT>CC), HBB: c.