Enhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines.

Purpose: To enhance the detection rate of Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) through newborn screening (NBS), we analyzed the metabolic profiles of missed patients and proposed a more reliable method for early diagnosis.

Methods: In this retrospective study, NICCD patients were classified into "Newborn Screening" (64 individuals) and "Missed Screening" (52 individuals) groups. Metabolic profiles were analyzed using the non-derivatized MS/MS Kit, and genetic mutations were identified via next-generation sequencing and confirmed by Sanger sequencing.

Streptococcus agalactiae infection of a reconstructed human respiratory epithelium revealed infection and host response characteristics by different serotypes.

Background: Streptococcus agalactiae poses a significant threat to neonatal health, causing morbidity and mortality when transmitted from the maternal vagina to the newborn's respiratory tract. Among its various strains, serotype III is predominant in severe neonatal infections in Asia. However, the mechanisms of pathogenesis and host responses underlying serotype-specific disease outcomes remain poorly understood.

Parental awareness and perspectives on newborn screening in China: a questionnaire-based study.

Background: Low parental awareness and knowledge about newborn screening have been identified as a public issue. This study explored Chinese parents' self-evaluation of awareness, knowledge, and methods of receiving information about newborn screening.

Methods: Using convenience sampling, we included 614 respondents who were expectant parents or parents of children aged 0-3 years.

Circ-ECH1 May Compete With miR-708-5p to Regulate Ntrk2 in Bronchopulmonary Dysplasia.

Bronchopulmonary dysplasia (BPD) affects patients' quality of life. Circular RNAs participated in BPD. However, circ-ECH1's role in BPD has not been reported yet.

Quality improvement bundles to decrease hypothermia in very low/extremely low birth weight infants at birth: a systematic review and meta-analysis.

Background: Numerous studies have demonstrated that hypothermia in preterm infants correlates with increased morbidity and mortality, especially among those with very low or extremely low birth weights (VLBW/ELBW). An increasing number of healthcare facilities are implementing quality improvement (QI) bundles to lower the incidence of hypothermia at birth in this vulnerable population. However, the effectiveness and safety of these interventions have yet to be fully assessed.

A case report of acute Q fever with low-read detection of Coxiella burnetii genome by next-generation metagenomic sequencing.

The case presents a 47-year-old man with sudden abdominal pain and fever, but the cause was uncertain. Through metagenomic next-generation sequencing (mNGS) and detecting Q fever antibodies in serum, along with the patient's clinical and epidemiological history, a precise diagnosis was made, enabling timely and proper treatment.

Simultaneous determination of total homocysteine, methionine, methylmalonic acid and 2-methylcitric acid in dried blood spots by ultra-performance liquid chromatography-tandem mass spectrometry.

Homocysteine, methionine, methylmalonic acid and 2-methylcitric acid are clinically relevant markers in the methionine, propionate, and cobalamin metabolism. This study aimed to develop and validate an ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) method for simultaneously determining total homocysteine, methionine, methylmalonic acid and 2-methylcitric acid in dried blood spots. Three 3.

Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS.

Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) based on hormonal testing is successfully implemented in many countries. However, this method cannot detect non-classic CAH and has high false positive rates. We have developed a novel MALDI-TOF MS assay that can identify common variants and deletions of CYP21A2 in the Chinese population.

Transcriptomic analysis of differentially alternative splicing patterns in mice with inflammatory and neuropathic pain.

Although the molecular mechanisms of chronic pain have been extensively studied, a global picture of alternatively spliced genes and events in the peripheral and central nervous systems of chronic pain is poorly understood. The current study analyzed the changing pattern of alternative splicing (AS) in mouse brain, dorsal root ganglion, and spinal cord tissue under inflammatory and neuropathic pain. In total, we identified 6495 differentially alternatively spliced (DAS) genes.

Progress of newborn screening in China.

Newborn screening (NBS) plays a significant role in reducing the risk of birth defects. NBS in China began in the early 1980s. Under the protection of laws and regulations and the leadership of the national health administration, approved screening centers in public hospitals took the responsibility for publicity, screening, diagnosis, treatment, follow-up and management of birth defects.

Fluorescence lifetime imaging microscopy for early diagnosis and severity prediction of preeclampsia with Nile Blue probe.

Preeclampsia (PE) is a common pregnancy complication and the leading cause of maternal and perinatal mortality. Unfortunately, the early diagnostic methods for PE are still rare. Fluorescence lifetime imaging (FLIM) technology has proven to be applicable for diagnosis of various diseases.

Enhanced recovery in patients with gestational diabetes mellitus and 677 TT genotype after taking high-dose folic acid supplements during mid-late pregnancy: an open-label interventional study.

Objective: To explore the relationship between folic acid supplementation and the recovery rate of gestational diabetes mellitus (GDM) in women with methylenetetrahydrofolate () 677 TT genotypes in mid-late pregnancy.

Methods: 9, 096 pregnant women were recruited with their gene genotyped. 5,111 women underwent a 75-g oral glucose tolerance test (OGTT) and 2,097 were confirmed with GDM.

Bovine colostrum to supplement the first feeding of very preterm infants: The PreColos randomized controlled trial.

Background & Aims: Gut immaturity leads to feeding difficulties in very preterm infants (<32 weeks gestation at birth). Maternal milk (MM) is the optimal diet but often absent or insufficient. We hypothesized that bovine colostrum (BC), rich in protein and bioactive components, improves enteral feeding progression, relative to preterm formula (PF), when supplemented to MM.

An IncN-ST7 epidemic plasmid mediates the dissemination of carbapenem-resistant Klebsiella pneumoniae in a neonatal intensive care unit in China over 10 years.

Objectives: Carbapenem-resistant Klebsiella pneumoniae (CRKP) has widely disseminated globally, but its epidemiological characterization and clinical significance in paediatric patients are not well understood. In this study, we aimed to trace the dissemination dynamics of CRKP in the neonatal intensive care unit (NICU) of a tertiary hospital over a 10-y period.

Methods: We collected 67 non-duplicate K.

PGC1α: an emerging therapeutic target for chemotherapy-induced peripheral neuropathy.

Chemotherapy-induced peripheral neuropathy (CIPN)-mediated paresthesias are a common complication in cancer patients undergoing chemotherapy. There are currently no treatments available to prevent or reverse CIPN. Therefore, new therapeutic targets are urgently needed to develop more effective analgesics.

A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.

Background: Newborn screening (NBS) is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn diseases. The development of next-generation sequencing (NGS) technology provides new opportunities to expand current newborn screening methodologies.

Methods: We designed a a newborn genetic screening (NBGS) panel targeting 135 genes associated with 75 inborn disorders by multiplex PCR combined with NGS.

Dynamic changes of metabolic characteristics in neonatal intrahepatic cholestasis caused by citrin deficiency.

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a pan-ethnic complicated inborn error of metabolism but the specific mechanism is not fully understood. A total of 169 patients with NICCD who have biallelic pathogenic variants detected by targeted next-generation sequencing were collected. They were divided into the "Newborn-screen Group" and "Clinical diagnosed Group" depending on the newborn screening results.

Early gut microbiota in very low and extremely low birth weight preterm infants with feeding intolerance: a prospective case-control study.

The potential role of the gut microbiota in the pathogenesis of feeding intolerance (FI) remains unclear. Understanding the role of the gut microbiota could provide a new avenue for microbiota-targeted therapeutics. This study aimed to explore the associations between aberrant gut microbiota and FI in very low or extremely low birth weight (VLBW/ELBW) preterm infants.

Short term outcomes of extremely low birth weight infants from a multicenter cohort study in Guangdong of China.

With the increase in extremely low birth weight (ELBW) infants, their outcome attracted worldwide attention. However, in China, the related studies are rare. The hospitalized records of ELBW infants discharged from twenty-six neonatal intensive care units in Guangdong Province of China during 2008-2017 were analyzed.

Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report.

Background: The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes.

Case Presentation: This case study describes a 4-month-old child with growth and psychomotor retardation, auricle deformity, microcephaly, polydactyly, a heart abnormality, and feeding difficulties. An approximately 12.

Preliminary Interpretations of Epigenetic Profiling of Cord Blood in Preeclampsia.

Preeclampsia (PE) is characterized by new-onset hypertension after 20 weeks of pregnancy and results in high maternal and fetal mortality worldwide. It has been reported that PE is associated with abnormalities in the umbilical cord and cord blood. However, previous studies were focused primarily on the transcriptomics level, while the underlying gene regulatory landscapes are still unclear.