Dominant Pattern Research Articles

Evidence for 2 clusters among patients with noneosinophilic asthma

BackgroundAlthough asthma is often seen as an eosinophilic disease associated with atopy, patients with noneosinophilic asthma represent a substantial part of the population with asthma. ObjectiveTo apply an unsupervised clustering method in a cohort of 588 patients with noneosinophilic asthma (sputum eosinophils < 3%) recruited from an asthma clinic of a secondary care center. MethodsOur cluster analysis of the whole cohort identified 2 subgroups as cluster 1 (n = 417) and cluster 2 (n = 171). ResultsCluster 1 comprised a predominantly female group with late disease onset, a low proportion of atopy (24%), and a substantial smoking history (53%). In this cluster, treatment burden was low (<50% of inhaled corticosteroid users); asthma control and quality of life were poor, with median Asthma Control Test, Asthma Control Questionnaire, and Asthma Quality of Life scores of 16, 1.7, and 4.5, respectively, whereas lung function was preserved with a median postbronchodilation forced expiratory volume in 1 second of 93% predicted. Cluster 2 was a predominantly male group, almost exclusively comprising patients with atopy (99%) with early disease onset and a moderate treatment burden (median inhaled corticosteroids dose 800 µg/d equivalent beclomethasone). In cluster 2, asthma was partially controlled, with median Asthma Control Test and Asthma Control Questionnaire scores reaching 18 and 1.3, respectively, and lung function well preserved with a median postbronchodilation of 95% predicted. Although systemic and airway neutrophilic inflammation was the dominant pattern in cluster 1, cluster 2 essentially comprised paucigranulocytic asthma with moderately elevated fraction exhaled nitric oxide. ConclusionNoneosinophilic asthma splits into 2 clusters distinguishing by disease onset, atopic status, smoking history, systemic and airway inflammation, and disease control and quality of life.

Determinants of radiological patterns and severity in immunocompromised adults with Metapneumovirus infection

BackgroundHuman Metapneumovirus (HMPV) belongs to the Pneumoviridae family and is responsible for respiratory infections. Mild infections are well-recognized in children, while its precise impact in various categories of immunocompromised adults has not been well addressed. Research questionWe retrospectively studied HMPV infections in immunocompromised adults followed in two large French university medical centers. Study design and methodsWe identified immunocompromised adults with positive HMPV Polymerase Chain Reaction (PCR) for 36 months and reviewed their medical charts. For lung transplant recipients (LTR), FEV1 was collected at baseline, during and after infection. Imaging was centralized and chest involvement was categorized by dominant CT patterns. We compared severe patients (requiring oxygen or ventilation) and non hypoxemic patients. ResultsSeventy-two patients were included, 27 were LTR, 25 had a hematological malignancy or were hematopoietic stem cell recipients, 20 had another immunocompromised status. Twenty patients (28%) presented a hypoxemic infection, requiring hospitalization and intensive care units transfers in 50/72 (69.4%) and 9/72 (12.5%) respectively, with only one death. Hypoxemia was less pronounced in LTRs (p = 0.014). Finally, age and dyspnea remained independent factors associated with hypoxemia (p < 0.005). The most frequent radiological patterns were bronchopneumonia (34.2%) and bronchiolitis (39.5% and 64.3% in the overall population and in LTRs respectively, p = 0.045). FEV1 improved in LTRs at one month and 85% had recovered their baseline FEV1 within 6 months. InterpretationsIn immunocompromised adults, HMPV infections required frequent hospitalizations and ICU transfers, while mortality is low. In LTRs, bronchiolitis pattern was predominant with short and long-term favorable outcome.

Could near focus endoscopy, narrow-band imaging, and acetic acid improve the visualization of microscopic features of stomach mucosa?

Conventional magnifying endoscopy with narrow-band imaging (NBI) observation of the gastric body mucosa shows dominant patterns in relation to the regular arrangement of collecting venules, subepithelial capillary network, and gastric pits. To evaluate the effectiveness of a new one-dual (near) focus, NBI mode in the assessment of the microscopic features of gastric body mucosa compared to conventional magnification. During 2021 and 2022, 68 patients underwent proximal gastrointestinal endoscopy using magnification endoscopic modalities subsequently applying acetic acid (AA). The GIF-190HQ series NBI system with dual focus capability was used for the investigation of gastric mucosa. At the time of the endoscopy, the gastric body mucosa of all enrolled patients was photographed using the white light endoscopy (WLE), near focus (NF), NF-NBI, AA-NF, and AA-NF-NBI modes. The WLE, NF and NF-NBI endoscopic modes for all patients (204 images) were classified in the same order into three groups. Two images from each patient for the AA-NF and AA-NF-NBI endoscopic modes were classified in the same order. According to all three observers who completed the work independently, NF magnification was significantly superior to WLE (P < 0.01), and the NF-NBI mode was significantly superior to NF magnification (P < 0.01). After applying AA, the three observers confirmed that AA-NF-NBI was significantly superior to AA-NF (P < 0.01). Interobserver kappa values for WLE were 0.609, 0.704, and 0.598, respectively and were 0.600, 0.721, and 0.637, respectively, for NF magnification. For the NF-NBI mode, the values were 0.378, 0.471, and 0.553, respectively. For AA-NF, they were 0.453, 0.603, and 0.480, respectively, and for AA-NF-NBI, they were 0.643, 0.506, and 0.354, respectively. When investigating gastric mucosa in microscopic detail, NF-NBI was the most powerful endoscopic mode for assessing regular arrangement of collecting venules, subepithelial capillary network, and gastric pits among the five endoscopic modalities investigated in this study. AA-NF-NBI was the most powerful endoscopic mode for analyzing crypt opening and intervening part.

Representations of 5G in the Chinese and British press: a corpus-assisted critical discourse analysis

This study employs a corpus-assisted critical discourse analysis to demystify the dominant patterns of representations around 5G in the Chinese and British press. Keyword analyses identify four thematic categories around the representation of 5G: the nature of 5G, social actors in 5G discourse, actions around 5G and timing in 5G discourse. Findings suggest that the Chinese press tends to use positive evaluative expressions to depict 5G as a trustworthy and beneficial issue and stress China’s strong support for 5G development. In contrast, the British press prefers to frame 5G as a product of geopolitical rivalry and an issue with scientific uncertainties and controversies by repeatedly employing negative language patterns related to 5G risks and conspiracy theories. Besides, a subtle but varying “self versus other” schema is constructed by the two presses. The Chinese press is inclined to use positive predication strategies to construct a positive self-representation, whereas the British press tends to adopt negative predication strategies to portray China as an outgroup and meanwhile use scapegoating strategies to profile Britain as a positive self by using recurrent patterns denoting the pressure exerted on Britain by the United States. Such differences could result from their journalistic ideologies and values and the contrasting socio-political contexts where the two presses are situated.

A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases

Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially in anterior segment dysgenesis (ASD), have created challenges for proper diagnosis and classification of diseases. Over the last decade, genomic research has indeed boosted our understanding in the molecular basis of ASD and genes associated with both autosomal dominant and recessive patterns of inheritance have been described with a wide range of expressivity. Here we describe the molecular characterization of a cohort of 162 patients displaying isolated or syndromic congenital ocular dysgenesis. Samples were analyzed with diverse techniques, such as direct sequencing, multiplex ligation-dependent probe amplification, and whole exome sequencing (WES), over 20 years. Our data reiterate the notion that PAX6 alterations are primarily associated with ASD, mostly aniridia, since the majority of the cohort (66.7%) has a pathogenic or likely pathogenic variant in the PAX6 locus. Unexpectedly, a high fraction of positive samples (20.3%) displayed deletions involving the 11p13 locus, either partially/totally involving PAX6 coding region or abolishing its critical regulatory region, underlying its significance. Most importantly, the use of WES has allowed us to both assess variants in known ASD genes (i.e., CYP1B1, ITPR1, MAB21L1, PXDN, and PITX2) and to identify rarer phenotypes (i.e., MIDAS, oculogastrointestinal-neurodevelopmental syndrome and Jacobsen syndrome). Our data clearly suggest that WES allows expanding the analytical portfolio of ocular dysgenesis, both isolated and syndromic, and that is pivotal for the differential diagnosis of those conditions in which there may be phenotypic overlaps and in general in ASD.

Between individualization and politicization: young people's interpretation patterns and action orientations in the face of climate change

This paper examines the prevailing interpretation patterns and action orientations regarding climate change and climate protection among the young generation (14–22 years) in Germany. Based on a representative survey, we investigate which climate action options are currently favored and widespread among young individuals in Germany, encompassing both private sphere behavior—sustainable consumption—and public sphere behavior—collective climate action and civic engagement. Subsequently, through qualitative interviews, we delve into the shared interpretation patterns that young individuals draw upon to comprehend, evaluate, and guide their actions in climate protection. In this process, an individualizing and a politicizing interpretation pattern are identified and juxtaposed. As a result, both the representative survey and the qualitative analysis underscore a deep-rooted and widespread adoption of the individualizing rationale among young people in interpreting and acting on climate change. We discuss this finding by exploring the discursive origins of the dominant interpretation pattern and by questioning the respective transformative potential of both the individualizing and the politicizing action orientation.

Internationalization of higher education in Central Asia: a systematic review

ABSTRACT Despite the growing literature on higher education internationalization in Central Asia, such literature remains unexamined for its criticality. Our systematic integrative literature review helps address this lacuna. The article utilizes critical internationalization perspectives to examine the extent to which the literature on internationalization in the region addresses the critical questions currently dominating the internationalization discourse globally. We analysed 56 peer-reviewed journal articles published in English between 2012 and 2022 to address the following themes: (1) internationalization as Westernization, (2) internationalization and the modernization of the university, (3) internationalization equals Englishization and (4) internationalization and the recreation of unequal relations. We assert that the published work does not promote the reimagination of dominant patterns of relationship, representation and resource distribution. By providing a systematic review, we hope to have helped academics, researchers, students, administrators and policymakers reflect upon and reimagine internationalization practice.

A dynamic metaphor perspective on Trump and Xi's trade negotiation in governmental discourse

This article investigates the evolution of U.S.-China trade negotiation in governmental discourse under the presidencies of Donald Trump and Xi Jinping (2017–2021). Paying attention to the development of the political context, we examine trade metaphor use in American and Chinese governmental texts from a dynamic metaphor perspective. Based on the three dominant patterns of metaphoricity activation in the Trump and Xi trade corpora, the analyses reveal that trade metaphors in these governmental texts involve dynamic cognitive (metaphoricity transformation), affective (sentiment development), and socio-political (attitude change) processes. Unlike Cameron's (e.g., 2007) finding that the dynamics of metaphor use at a micro timescale (e.g., minutes) contribute to the reconciliation of discourse participants at a macro timescale (e.g., years), the results show that metaphoricity transformation across a micro timeline (e.g., days, months) does not advance the reconciliation across a macro timeline (years). Although the Trump-Xi trade dispute decreased at the end of 2019, the analyses of dynamic metaphors show that bilateral antagonistic perspectives continued for years.

Achieving an optimal pregnancy outcome through the combined utilization of micro-TESE and ICSI in cryptorchidism associated with a non-canonical splicing variant in RXFP2.

To identify the genetic cause of a cryptorchidism patient carrying a non-canonical splicing variant highlighted by SPCards platform in RXFP2 and to provide a comprehensive overview of RXFP2 variants with cryptorchidism correlation. We identified a homozygous non-canonical splicing variant by whole-exome sequencing and Sanger sequencing in a case with cryptorchidism and non-obstructive azoospermia (NOA). As the pathogenicity of this non-canonical splicing variant remained unclear, we initially utilized the SPCards platform to predict its pathogenicity. Subsequently, we employed a minigene splicing assay to further evaluate the influence of the identified splicing variant. Microdissection testicular sperm extraction (micro-TESE) combined with intracytoplasmic sperm injection (ICSI) was performed. PubMed and Human Genome Variant Database (HGMD) were queried to search for RXFP2 variants. We identified a homozygous non-canonical splicing variant (NM_130806: c.1376-12A > G) in RXFP2, and confirmed this variant caused aberrant splicing of exons 15 and 16 of the RXFP2 gene: 11 bases were added in front of exon 16, leading to an abnormal transcript initiation and a frameshift. Fortunately, the patient successfully obtained his biological offspring through micro-TESE combined with ICSI. Four cryptorchidism-associated variants in RXFP2 from 90 patients with cryptorchidism were identified through a literature search in PubMed and HGMD, with different inheritance patterns. This is the first cryptorchidism case carrying a novel causative non-canonical splicing RXFP2 variant. The combined approach of micro-TESE and ICSI contributed to an optimal pregnancy outcome. Our literature review demonstrated that RXFP2 variants caused cryptorchidism in a recessive inheritance pattern, rather than a dominant pattern.

Modelling rainfall interception losses of three plantations in the Loess Plateau

AbstractThe forest canopy affects the water entering the forest ecosystem by intercepting rainfall. This is especially pertinent in forests that depend on rainfall for their ecological water needs, quantifying and simulating interception losses provide critical insights into their ecological hydrological processes. In the semi‐arid areas of the Loess Plateau, afforestation has become an effective ecological restoration measure. However, the rainfall interception process of these plantations is still unclear. To quantify and model the canopy interception of these plantations, we conducted a two‐year rainfall redistribution measurement experiment in three typical plantations, including a deciduous broadleaf plantation (Robinia pseudoacacia) and two evergreen coniferous plantations (Platycladus orientalis and Pinus tabuliformis). Based on this, the revised Gash model was used to simulate their interception losses, and the model applicability across varying rainfall types was further compared and verified. The experiment clarified the rainfall redistribution in the three plantations, and the proportions of throughfall to gross rainfall in Robinia pseudoacacia, Platycladus orientalis, and Pinus tabuliformis were 84.8%, 70.4%, and 75.6%; corresponding, the stemflow proportions were 2.0%, 2.2%, and 1.8%; the interception losses were 13.2%, 27.4%, and 22.6%, respectively. The dominant rainfall pattern during the experiment was characterized by low‐amounts, moderate‐intensity, and short‐duration, during which the highest interception proportions across the three plantations were observed. We used the Penman‐Monteith equation and the regression method, respectively, to estimate the canopy average evaporation rate of the revised Gash model, finding that the latter provides a closer match to the measured cumulative interception (NSE &gt;0.7). When simulating interception under the three rainfall patterns, the model with the regression method better simulated the cumulative interception and event‐scale interception for Platycladus orientalis and Pinus tabuliformis plantations under the dominant rainfall pattern. The results contribute valuable information to assess the impact of forest rainfall interception on regional hydrologic processes.

MR Imaging Patterns and Prognosis in Powassan Virus Encephalitis.

Powassan virus (POWV) encephalitis is an arbovirus infection and the only tick-borne encephalitis serogroup which is present in mainland North America. The magnetic resonance (MR) imaging described with POWV encephalitis is varied, nonspecific, and limited in number, and as such, imaging patterns and outcomes with this arbovirus infection are not well appreciated. A case report and literature review of the MR imaging associated with POWV encephalitis and correlate of the MR pattern with outcome is considered. The cerebellar dominant MR imaging pattern was identified in 50% of POWV encephalitis cases and was associated with a 60% fatality rate. POWV encephalitis with prominent cerebellar involvement on MR imaging responded to intravenous steroid. A cerebellar dominant MR pattern in POWV encephalitis was common, associated with a poor prognosis, and recognition could change management from supportive to life-saving.

Statistical Characteristics and Synoptic Patterns of Convection Initiation over the Middle Reaches of the Yangtze River Basin as Observed Using the Fengyun-4A Satellite

Abstract Convection initiations (CIs) observed using the advanced geosynchronous radiation imager on the Chinese Fengyun-4A satellite were identified over the middle reaches of the Yangtze River basin during warm season (May–September) of 2018–21. A hybrid objective tracking algorithm combining the conventional area overlapping with the Kalman filter method was applied. Subsequently, spatial and temporal variations in the identified CIs and their synoptic circulation patterns were analyzed. The frequency of CIs was highest in August and lowest in May. Nearly 81% of CIs occurred during noon–afternoon (1100–1859 LST), with the highest frequency in the southern mountains of the study region, whereas the CIs with relatively low frequency moved to the plains from afternoon to morning (1700–1059 LST). The diurnal variation of CIs throughout the study region exhibited a unimodal structure, with a peak appearing at noon (1200–1259 LST). CIs during noon–afternoon in July and August had faster cloud-top cooling rates. The synoptic circulations without tropical cyclones during noon–afternoon hours were classified into four patterns by hierarchical clustering; two dominant patterns (i.e., SW-Flows and S-Flows) had broader areas of higher most unstable convective available potential energy (MUCAPE), whereas the 0–3-km shear (SHR3) was the weakest in the S-Flows pattern. It was clear that the high-frequency areas of CIs were most likely to occur in stronger MUCAPE and weaker SHR3 environments, and CIs were more controlled by thermally unstable environments. We further illustrated that CIs tend to concentrate in unstable and moisture flux convergence areas affected by mountains.

Contemporary International Criminal Law After Critique

Abstract Contemporary international criminal law (ICL) is a well-established field of scholarship and practice that wields significant influence in framing how certain events come to be understood and acted upon. Yet, as the field has increasingly captured the public’s attention and imagination, a body of critical scholarship has risen in prominence that seeks to test and challenge ICL’s underlying assumptions. In such a climate, this article suggests that ICL not only has moved beyond its inception and consolidation phases, but is beginning to emerge from its critical period towards a ‘post-critical’ phase where critique is becoming increasingly normalized within the field, with both reformist and structurally oriented reappraisals more readily acknowledged within ICL’s imaginary. Situated in this ‘post-critical’ moment, this article examines the extent to which the vocabulary and institutions of ICL may be productively (re-)engaged in the pursuit of emancipatory ends. After providing an overview of the strands of critique that have become increasingly prominent, we reflect on three avenues for engaging with the field of ICL ‘after critique’: first, critical engagement, centred on a commitment to revealing and detailing silenced and marginalized experiences and methods within the field itself; second, tactical and strategic engagement, which points to the ways in which actors choose to engage with imperfect legal frameworks for particular struggles; and finally, decolonial and abolitionist (dis-)engagement which takes as its point of departure the rejection of both colonial and carceral logics per se, especially in light of their historical and persisting patterns of patriarchal and racialized domination. Ultimately, in linking ICL with historical and contemporary anti-colonial and anti-carceral struggles, we seek not only to disrupt ICL progress narratives, but also to show how earlier, often-sidelined ways of imagining forms of harm and their repair may provide potentially more productive ways of engaging with ICL ‘after critique’.

Palatal Rugae Pattern in Adolescents of Southeastern Kosovo with Class I, II, III Malocclusions According to Angle’s Classification

Background: Palatal rugae, or plicae palatinae, are uniquely designed structures, well-formed, asymmetric, irregular mucosal folds suited in the anterior part of the hard palate. Palatoscopy, or the analysis of the palatal rugae pattern, is a simple, low-cost, non-invasive, innovative, and highly sensitive technique that can be successfully used in stomatology. This study aimed to analyze the palatal rugae pattern among an adolescent sample of the Albanian population in Kosovo, to determine the most prevalent palatal rugae pattern in both genders in association with Class I, II, and III malocclusions according to Angle’s classification. Materials and Methods: In this cross-sectional study, a total of 100 adolescents (50 males and 50 females) aged from 12 to 18 were randomly selected from schools in southeastern Kosovo. All subjects were divided into classes of malocclusion according to Angle’s classification (Class I, Class II, and Class III). The rugae patterns were classified based on shape, unification, and length according to the Thomas and Kotze classification. In the present study, the palatal rugae pattern in Class I, II and III malocclusions show no significant difference between female and male subjects. In Class I malocclusion, the straight pattern was dominant in female subjects, and the wavy pattern was dominant in male subjects. The straight pattern was dominant in males and females with Class II malocclusion. In Class III malocclusion, the wavy pattern was dominant in female subjects, and the curved pattern was dominant in male subjects. The study showed that male subjects were at slightly higher risk for having Class I malocclusion and slightly lower risk for having Class II and Class III malocclusions than female subjects. Conclusion: This study provides essential information regarding the dominant palatal rugae pattern among Albanian adolescents of southeastern Kosovo with Class I, II, and III malocclusions according to Angle’s classification.

Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability

IntroductionHereditary spastic paraparesis (HSP) is a group of central nervous system diseases primarily affecting the spinal upper motor neurons, with different inheritance patterns and phenotypes. SPG18 is a rare, early-onset, complicated HSP, first reported as linked to biallelic ERLIN2 mutations. Recent cases of late-onset, pure HSP with monoallelic ERLIN2 variants prompt inquiries into the zygosity of such genetic conditions. The observed relationship between phenotype and mode of inheritance suggests a potential dominant negative effect of mutated ERLIN2 protein, potentially resulting in a milder phenotype. This speculation suggests that a wider range of HSP genes could be linked to various inheritance patterns.Purpose and backgroundWith documented cases of HSP loci exhibiting both dominant and recessive patterns, this study emphasizes that the concept of zygosity is no longer a limiting factor in the establishment of molecular diagnoses for HSP. Recent cases have demonstrated phenoconversion in SPG18, from HSP to an amyotrophic lateral sclerosis (ALS)-like syndrome.Methods and resultsThis report highlights two cases out of five exhibiting HSP-ALS phenoconversion, discussing an observed prevalence in autosomal dominant SPG18. Additionally, the study emphasizes the relatively high incidence of the c.502G>A variant in monoallelic SPG18 cases. This mutation appears to be particularly common in cases of HSPALS phenoconversion, indicating its potential role as a hotspot for a distinctive SPG18 phenotype with an ALS-like syndrome.ConclusionsClinicians need to be aware that patients with HSP may show ALS signs and symptoms. On the other hand, HSP panels must be included in genetic testing methods for instances of familial ALS.

Síndrome de Lynch. Cáncer de colon familiar no sindrómico

Lynch syndrome is the most common hereditary colorectal cancer (CRC) syndrome. It accounts for 2% to 4% of all CRC cases globally. It follows an autosomal dominant inheritance pattern and is defined by the presence of a pathogenic germline variant of one of the genes that encodes for DNA repair proteins (MMR), MLH1, MSH2, MSH6, PMS2, or at the 3’ end of the EPCAM gene. This syndrome entails a greater risk of developing CRC and endometrial cancer, in addition to other tumors. Its diagnosis is based on clinical criteria that take into account the family and personal history of cancer, the detection of a deficient MMR phenotype in the tumor tissue, and a genetic study of the germline of individuals at risk of having it. Its early diagnosis allows for establishing screening strategies to try to prevent or detect the presence of tumors in early stages which, in the case of CRC, has been shown to increase survival. Nonsyndromic familial CRC includes cases that have a familial component without a well-established molecular mechanism. They may benefit from more intensive follow-up than what is established for the general population.

Cross-sectional analysis of use of real-world data in single technology appraisals of oncological medicine by the National Institute for Health and Care Excellence in 2011–2021

ObjectivesThis study aims to identify how real-world data (RWD) have been used in single technology appraisals (STAs) of cancer drugs by the National Institute for Health and Care Excellence (NICE).DesignCross-sectional...

Cultural variability in finger representations / Variabilidad cultural en las representaciones con dedos

Finger representations are used to count or show quantities. How fingers are lifted to count and the type of representation that we use to communicate quantities have been the focus of studies that have aimed at providing evidence of dominant patterns across cultures. In the current study, we go beyond those studies and investigate intracultural variability. Specifically, whether finger counting habits and finger montring patterns are similar in children and adults. To this aim, a total of 3,210 Spaniard participants took part in this study (637 children and 2,573 adults). All of them were assessed regarding handedness, the way in which they counted with their fingers from 1 to 10 (finger counting) and how they show quantities with their fingers (finger montring). The results showed certain consistency; however, there was substantial variability within each group. Findings are interpreted within the context of current theories reinforcing the relevance of finger patterns to support the understanding of the meaning of numbers.

Social-ecological-resilience enablers among youth residing in the air polluted Highveld Priority Area of South Africa

ABSTRACT Young people living in low-income settlements face numerous challenges ranging from violence to polluted environments. However, many of them find ways in which to overcome these challenges for their own growth and development. These ‘ways’ are known as resilience-enablers. We studied the resilience enablers of 240 adolescents living in the highly air polluted area in South Africa. Using the draw-and-write technique, this qualitative study entailed asking school-attending adolescents (n = 240; average age: 14.1) to make a drawing that illustrated what supported their resilience, before writing a short narrative to explain their drawing. Using a codebook-informed thematic analysis, we identified two dominant patterns in the data: most young people relied on themselves to cope well with their challenging environment; a minority also drew on social, institutional and environmental supports. Our findings are alarming because they imply that little is being done to co-facilitate the resilience of young people in polluted low-income settlements.

A 76-base pair duplication within the enhancer region of the HMX1 gene causes sheep microtia

Sheep congenital microtia is characterized by underdeveloped ears and provides an ideal basis for studying human microtia. This study identified the causal mutation and regulatory mechanisms underlying this disorder. Whole-genome association analysis was conducted using 23 ear tissue samples from sheep with microtia and 28 samples from normal-eared sheep. A significant correlation was found between microtia and a 76-base pair duplication in the enhancer region of the HMX1 gene. Further analysis of offspring phenotypes confirmed an autosomal dominant inheritance pattern. Genotypic analysis showed that individuals that are homozygous for this duplication were earless, heterozygous individuals exhibited shortened ears, and wild-type individuals had normal ears. Moreover, luciferase assays confirmed that this duplication increased HMX1 gene expression, and duplication knock-in mice also exhibited shorter and narrower external ears compared to wild-type mice. Transcriptomic analysis further demonstrated that this duplication enhanced HMX1 gene expression in animal models. This study characterized the causal regulatory mutation underlying sheep microtia.