Background: The interplay between COVID‐19 pandemic and asthma in children is still unclear. We evaluated the impact of COVID‐19 pandemic on childhood asthma outcomes.Methods: The PeARL multinational cohort included 1,054 children with asthma and 505 non‐asthmatic children aged between 4 and 18 years from 25 pediatric departments, from 15 countries globally. We compared the frequency of acute respiratory and febrile presentations during the first wave of the COVID‐19 pandemic between groups and with data available from the previous year. In children with asthma, we also compared current and historical disease control.Results: During the pandemic, children with asthma experienced fewer upper respiratory tract infections, episodes of pyrexia, emergency visits, hospital admissions, asthma attacks, and hospitalizations due to asthma, in comparison with the preceding year. Sixty‐six percent of asthmatic children had improved asthma control while in 33% the improvement exceeded the minimal clinically important difference. Pre‐bronchodilatation FEV₁ and peak expiratory flow rate were improved during the pandemic. When compared to non‐asthmatic controls, children with asthma were not at increased risk of LRTIs, episodes of pyrexia, emergency visits, or hospitalizations during the pandemic. However, an increased risk of URTIs emerged.Conclusion: Childhood asthma outcomes, including control, were improved during the first wave of the COVID‐19 pandemic, probably because of reduced exposure to asthma triggers and increased treatment adherence. The decreased frequency of acute episodes does not support the notion that childhood asthma may be a risk factor for COVID‐19. Furthermore, the potential for improving childhood asthma outcomes through environmental control becomes apparent.

Background: Tandem mass spectrometry (MS/MS) has been progressively integrated into newborn screening (NBS) in China over the past decades. However, variations exist in screening strategies, coverage and support systems across different regions. This study aims to investigate the current status of MS/MS-based NBS across China, providing insights into progress and future challenges. Methods: This retrospective investigation included 42 634 198 newborns screened at 267 NBS centres across 28 provinces in China between 2017 and 2021. These centres were divided into Eastern, Central and Western regions based on geographical location and economic development level. Data analysis focuses on screening rate, suspected positive rate, incidence and diagnostic efficiency of MS/MS-based NBS across these regions. Results: Over the 5-year study period, the nationwide MS/MS-based screening rate increased consistently from 36.93% in 2017 to 49.93% in 2021, with the prominent trend in the Central region. The suspected positive rates of amino acid metabolism disorders, organic acid metabolism disorders and fatty acid oxidation disorders showed a notable upward trend. In 2021, the nationwide incidences of amino acid metabolism disorders, organic acid metabolism disorders and fatty acid oxidation disorders were 15.34, 12.59 and 13.18 per 100 000 live births, respectively. Despite challenges, the diagnostic time for organic acid metabolism disorders in the Western region significantly improved, and similar ascending trends were observed for fatty acid oxidation disorders in most regions. Conclusion: Our findings highlight the remarkable progress of MS/MS in China’s NBS and its indispensable role as the primary method. Continued advancement will be key to improving health outcomes and safeguarding the well-being of newborns nationwide.

Objective: To investigate the clinical characteristics, inheritance patterns, and genotype–phenotype correlations of DHX37 variants in 46,XY disorders of sex development (DSD). Methods: We retrospectively reviewed 108 patients with 46,XY karyotype who underwent DSD evaluation and trio-based whole-exome sequencing (trio-WES) at our center between January 2021 and December 2025. Six probands with DHX37 variants and no concurrent pathogenic or likely pathogenic variants in other known DSD-associated genes were analyzed in detail. Clinical presentations, endocrine profiles, imaging findings, and pedigree data were collected. Variant segregation was confirmed by Sanger sequencing; variants were assessed using in silico prediction, conservation analysis, and structural modeling, and were classified according to ACMG/AMP guidelines. Results: The six probands exhibited marked phenotypic heterogeneity, with manifestations ranging from complete gonadal dysgenesis to mild testicular underdevelopment with gynecomastia. Six heterozygous DHX37 missense variants were identified across distinct functional domains: one in RecA1 [c.1000C>T (p.Arg334Trp)], four in RecA2 [c.1379T>C (p.Val460Ala), c.1432G>A (p.Gly478Arg), c.1730A>G (p.Asp577Gly), and c.1954G>A (p.Val652Ile)], and one in the linker region proximal to the HA2 domain [c.2180C>T (p.Thr727Met)]. Of these, p.Arg334Trp is an established pathogenic variant; p.Gly478Arg has been reported previously, albeit in the same patient included in the present study; and the remaining four were novel. According to ACMG/AMP guidelines, p.Arg334Trp was classified as pathogenic, and the remaining five as variants of uncertain significance. Conclusions: This study provides additional case evidence supporting the pathogenicity of p.Arg334Trp and expands the DHX37 variant spectrum. Computational and structural analyses suggest that p.Gly478Arg may underlie the testicular regression syndrome phenotype of the corresponding proband and that the four novel variants may be involved in testicular development. However, these genotype–phenotype correlations remain speculative; larger cohorts and in vitro functional assays are warranted to confirm these associations.

Silver–Russell syndrome (SRS) is most commonly caused by epigenetic alterations at 11p15.5 or maternal uniparental disomy of chromosome 7 [upd(7)mat], though other molecular mechanisms remain unclear. While microdeletions encompassing MEST have been associated with SRS-like phenotypes, no pathogenic intragenic MEST variants have been reported to date. We describe a 6-month-old male infant with clinical features suggestive of a SRS-like phenotype, including intrauterine and postnatal growth restriction, triangular facies, prominent forehead, and small extremities. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) revealed neither methylation abnormalities at 11p15.5, 7p13, or 7q32 nor copy number variations (CNVs) in these regions. Trio whole-exome sequencing (trio-WES) identified a paternally inherited splice-site variant (c.890 + 1G > A) in MEST. Given the paternal-specific expression of MEST, this variant resides on the functionally active allele. Based on in silico predictions and clinical correlation, this case identifies MEST as a plausible candidate gene for SRS and provides a rationale for further functional studies. Phenotypic variation exists across molecular subtypes, yet definitive genotype–phenotype correlations await larger, systematically ascertained cohorts.