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OBJECTIVES: Newborn screening (NBS) for primary carnitine deficiency (PCD) exhibits suboptimal performance. This study proposes a strategy to enhance the efficacy of second-tier genetic screening by adjusting the cutoff value for free carnitine (C0). METHODS: Between January 2021 and December 2022, we screened 119,898 neonates for inborn metabolic disorders. Neonates with C0 levels below 12⯵mol/L were randomly selected for second-tier genetic screening, employing a novel matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS) assay. RESULTS: In total, 2,515 neonates with C0 <12⯵mol/L underwent further screening, including 206 neonates with C0 <8.5⯵mol/L and 320 neonates with 8.5
Assuntos
Cardiomiopatias , Carnitina/deficiência , Testes Genéticos , Hiperamonemia , Doenças Musculares , Triagem Neonatal , Recém-Nascido , Humanos , Triagem Neonatal/métodos , Membro 5 da Família 22 de Carreadores de Soluto/genética , Mutação , Espectrometria de Massas em TandemRESUMO
Background and aims: Fatty acid oxidation disorders (FAODs) are a group of autosomal recessive metabolic diseases included in many newborn screening (NBS) programs, but the incidence and disease spectrum vary widely between ethnic groups. We aimed to elucidate the incidence, disease spectrum, and genetic features of FAODs in a southern Chinese population. Materials and methods: The FAODs screening results of 643,606 newborns from 2014 to 2022 were analyzed. Results: Ninety-two patients were eventually diagnosed with FAODs, of which 61 were PCD, 20 were MADD, 5 were SCADD, 4 were VLCADD, and 2 were CPT-IAD. The overall incidence of FAODs was 1:6996 (95 % CI: 1:5814-1:8772) newborns. All PCD patients had low C0 levels during NBS, while nine patients (14.8 %) had normal C0 levels during the recall review. All but one MADD patients had elevated C8, C10, and C12 levels during NBS, while eight patients (40 %) had normal acylcarnitine levels during the recall review. The most frequent SLC22A5 variant was c.760C > T (p.R254*) with an allele frequency of 29.51 %, followed by c.51C > G (p.F17L) (17.21 %) and c.1400C > G (p.S467C) (16.39 %). The most frequent ETFDH variant was c.250G > A (p.A84T) with an allelic frequency of 47.5 %, followed by c.524G > A (R175H) (12.5 %), c.998A > G (p.Y333C) (12.5 %), and c.1657T > C (p.Y553H) (7.5 %). Conclusion: The prevalence, disease spectrum, and genetic characteristics of FAODs in a southern Chinese population were clarified. PCD was the most common FAOD, followed by MADD. Hotspot variants were found in SLC22A5 and ETFDH genes, while the remaining FAODs showed great molecular heterogeneity. Incorporating second-tier genetic screening is critical for FAODs.
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[This corrects the article DOI: 10.1371/journal.pone.0217185.].
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Background: Transnasal humidified rapid-insufflation ventilator exchange (THRIVE) has the characteristics of operating easily and maintaining oxygenation and eliminating CO2, which makes it possible to be used in endoscopic thoracic sympathectomy (ETS). The application of THRIVE in ETS remains undefined. The purpose of this randomized controlled study is to assess the efficacy between THRIVE and laryngeal mask airway (LMA) for ETS. Methods: In total, 34 patients from May 2022 to May 2023 in Huazhong University of Science and Technology Union Shenzhen Hospital undergoing ETS were randomly divided into a THRIVE group (n = 17) and an LMA group (n = 17). A serial arterial blood gas analysis was conducted during the perioperative period. The primary outcome was the arterial partial pressure of carbon dioxide (PaCO2) during the perioperative period. The secondary outcome was arterial partial pressure of oxygen (PaO2) during the perioperative period. Results: The mean (SD) highest PaCO2 in the THRIVE group and LMA group were 99.0 (9.0) mmHg and 51.7 (5.2) mmHg, respectively (p < 0.001). The median (inter-quartile range) time to PaCO2 ≥ 60 mmHg in the THRIVE group was 26.0 min (23.2-28.8). The mean (SD) PaO2 was 268.8 (89.0) mmHg in the THRIVE group and 209.8 (55.8) mmHg in the LMA group during surgery (p = 0.027). Conclusion: CO2 accumulation in the THRIVE group was higher than that of the LMA group during ETS, but THRIVE exhibited greater oxygenation capability compared to LMA. We preliminarily testified that THRIVE would be a feasible non-intubated ventilation technique during ETS under monitoring PaCO2.