Continent-wide declines in shallow reef life over a decade of ocean warming.

Human society is dependent on nature1,2, but whether our ecological foundations are at risk remains unknown in the absence of systematic monitoring of species' populations3. Knowledge of species fluctuations is particularly inadequate in the marine realm4. Here we assess the population trends of 1,057 common shallow reef species from multiple phyla at 1,636 sites around Australia over the past decade. Most populations decreased over this period, including many tropical fishes, temperate invertebrates (particularly echinoderms) and southwestern Australian macroalgae, whereas coral populations remained relatively stable. Population declines typically followed heatwave years, when local water temperatures were more than 0.5 °C above temperatures in 2008. Following heatwaves5,6, species abundances generally tended to decline near warm range edges, and increase near cool range edges. More than 30% of shallow invertebrate species in cool latitudes exhibited high extinction risk, with rapidly declining populations trapped by deep ocean barriers, preventing poleward retreat as temperatures rise. Greater conservation effort is needed to safeguard temperate marine ecosystems, which are disproportionately threatened and include species with deep evolutionary roots. Fundamental among such efforts, and broader societal needs to efficiently adapt to interacting anthropogenic and natural pressures, is greatly expanded monitoring of species' population trends7,8.

Behavioral and electrophysiological evidence of different processes during a target identification task assessing perceptual learning.

This study aimed to test whether a target identification task involving same and different judgments to assess the ability to differentiate between similar pre-exposed stimuli-i.e., perceptual learning-could actually be assessing two different cognitive processes. Specifically, the hypothesis was that while "different" trials might be truly assessing the ability to differentiate between the pre-exposed stimuli, "same" trials might be assessing the ability to recognize one of these stimuli as the target. To test this hypothesis, accuracy on judgments as well as reaction times and event-related potentials for same/different trials were recorded after concurrent pre-exposure to similar stimuli. If same/different trials were assessing cognitive processes with different time courses, distinct outcomes for such trials would be expected at the behavioral and neural level. Results showed that participants were very accurate both in same and different judgments, indicating that they were perfectly able to differentiate between the stimuli after their concurrent presentations. However, larger P3 latencies and slower reaction times for different trials than for same trials were found. These results seem to support the idea that cognitive processes activated in same and different trials are different due to their distinct time courses. The importance of these findings for the theoretical approaches to perceptual learning is discussed.

COVID-19 Economic and Academic Stress on Mexican American Adolescents' Psychological Distress: Parents as Essential Workers.

OBJECTIVES: In a sample of Mexican American adolescents (N = 398; 51% females; aged 13-17), we examined the associations between psychological distress, COVID-19 household economic stress, COVID-19 academic stress, and whether these associations varied by adolescents' gender and by parents/caregivers' essential worker status. METHOD: First, linear regression models assessed the main effects of household economic and academic stress on psychological distress. Second, the moderating effects of gender and parents/caregivers' essential worker status on the association between household economic and academic stress, and psychological distress were examined. Third, the three-way interaction effect of household economic stress, gender, and parents/caregivers' essential worker status on psychological distress as well as the three-way interaction effect of academic stress, gender, and parents/caregivers' essential worker status on psychological distress were calculated. RESULTS: Household economic and academic stress were associated with psychological distress. However, these associations did not vary based on adolescents' gender or parents/caregivers' essential worker status. The three-way interaction for household economic stress, parents/caregivers' essential worker status, and gender for psychological distress was significant. Specifically, the effects of household economic stress on psychological distress was worse for boys than girls whose parents/caregivers were essential workers. Furthermore, the three-way interaction among academic stress, parents/caregivers' essential worker status, and gender was significant. Particularly, the effects of academic stress when grades were worse on adolescents' psychological distress was worse for boys than girls whose parents/caregivers were essential workers. CONCLUSION: Parents/caregivers' essential worker status was salient among Mexican American adolescents' mental health outcomes during COVID-19, particularly for adolescent boys.

Evolutionary dynamics at the tumor edge reveal metabolic imaging biomarkers.

Human cancers are biologically and morphologically heterogeneous. A variety of clonal populations emerge within these neoplasms and their interaction leads to complex spatiotemporal dynamics during tumor growth. We studied the reshaping of metabolic activity in human cancers by means of continuous and discrete mathematical models and matched the results to positron emission tomography (PET) imaging data. Our models revealed that the location of increasingly active proliferative cellular spots progressively drifted from the center of the tumor to the periphery, as a result of the competition between gradually more aggressive phenotypes. This computational finding led to the development of a metric, normalized distance from 18F-fluorodeoxyglucose (18F-FDG) hotspot to centroid (NHOC), based on the separation from the location of the activity (proliferation) hotspot to the tumor centroid. The NHOC metric can be computed for patients using 18F-FDG PET-computed tomography (PET/CT) images where the voxel of maximum uptake (standardized uptake value [SUV]max) is taken as the activity hotspot. Two datasets of 18F-FDG PET/CT images were collected, one from 61 breast cancer patients and another from 161 non-small-cell lung cancer patients. In both cohorts, survival analyses were carried out for the NHOC and for other classical PET/CT-based biomarkers, finding that the former had a high prognostic value, outperforming the latter. In summary, our work offers additional insights into the evolutionary mechanisms behind tumor progression, provides a different PET/CT-based biomarker, and reveals that an activity hotspot closer to the tumor periphery is associated to a worst patient outcome.

Inaugural editorial for Journal of Counseling Psychology.

The Journal of Counseling Psychology serves as the premier journal for critical and rigorous research within the field and beyond. In their inaugural editorial for Journa, Liu is joined by their associated editors and inaugural JCP fellows who have agreed to share authorship and their positionalities. In considering the Journal of Counseling Psychology for research, the editors encourage authors to reflect on these positionalities and how they might integrate their own into their publications. The editorial provides direction and some suggestions on submitted articles and research directions for JCP in the following areas: positionality and critical reflexivity; theoretical and conceptual advancement and clarity; body ideas, frameworks, and conceptualization; data clarity; and cultural validity of research instruments. The editors look forward to working with their communities as they transform their scholarship. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Critical consciousness among undocumented immigrant college students: Responding to cultural stress and psychological distress.

OBJECTIVES: Cultural stress is experienced by undocumented students when they encounter discrimination in higher education and society. In response, undocumented students engage in critical consciousness, while simultaneously experiencing psychological distress. A conceptual model is introduced to describe the links between cultural stress, critical consciousness development, and psychological distress. METHOD: One hundred seventy-one undocumented college students were recruited to participate in this study and completed measures of cultural stress (discrimination). They also completed measures of psychological distress, critical consciousness, and social justice self-efficacy and outcome expectations. The proposed model was tested for global fit and path analysis in structural equation modeling. Indirect effects were probed to assess the mediating role of critical consciousness and psychological distress. RESULTS: The model fit the data excellently. Greater discrimination was associated with higher critical consciousness, which in turn was associated with elevated social justice self-efficacy and outcome expectations. Additionally, higher discrimination was also linked to greater psychological distress. The link between cultural stress and critical consciousness was not explained by psychological distress. CONCLUSIONS: This research expands theory by articulating the adaptive ways undocumented students respond to the conditions that cause cultural stress and psychological distress. This aligns with a growing literature documenting the psychology of undocumented immigrants' activism and advocacy. Findings may inform interventions by higher education institutional agents and research to offset cultural stress and psychological distress. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Twelve Steps to Optimize Scar Outcomes in External Rhinoplasty.

A well-healed scar extends beyond a mere superficial concern, reflecting the precision and care underlying the surgery. This study addresses the lack of recent literature on the complete closure technique for external rhinoplasty scars, emphasizing its potential impact on patient satisfaction and overall aesthetic quality. The main purpose of this article was to introduce and assess the efficacy of a novel closing suture technique for external rhinoplasty and emphasize on 12 specific steps for wound closure. A cohort of 104 patients who underwent external rhinoplasty utilizing the proposed closing suture technique were evaluated. Standardized photographic documentation and scar assessment were performed using the Vancouver-Manchester scale, considering notching, skin level differences, pigmentation, and overall appearance. The surgical approach involved a combination of vertical mattress and interrupted simple sutures, creating an effective closure framework. Analysis revealed an absence of poor scars, with 83.6% classified as good. Note that 65.5% of the good scars achieved a perfect 6-point score. While one moderate scar scored 3 points, the majority demonstrated optimal outcomes. Clinical photographs further illustrated the technique's success, showcasing imperceptible scars and reinforcing the efficacy of the complete closure approach. Our study introduces and assesses the efficacy of the complete closure technique for external rhinoplasty scars. The approach consistently yields positive outcomes, with an emphasis on almost imperceptible scars. While not achieving a 100% imperceptible scar rate, this study underscores the need for ongoing research to refine techniques and enhance patient satisfaction in external rhinoplasty. The proposed technique contributes significantly to scar management practices and encourages further exploration within the evolving landscape of rhinoplasty.

ChatGPT and Rhinoplasty Recovery: An Exploration of AI's Role in Postoperative Guidance.

The potential applications of artificial intelligence (AI) in health care have garnered significant interest in recent years. This study presents the first published exploration of ChatGPT, an AI language model, as a tool for providing postoperative guidance during rhinoplasty recovery. The primary objective was to shed light on the role of ChatGPT in augmenting patient care during the critical postoperative phase. Using the Rhinobase database, standardized questions were formulated to evaluate AI-generated responses addressing pain management, swelling, bruising, and potential asymmetries. Results demonstrated that ChatGPT has the potential to enhance patient education and alleviate emotional distress by providing general information and reassurance during the recovery process. However, the study emphasized that AI should not replace personalized advice from qualified health care professionals. This pioneering investigation offers valuable insights into the integration of AI and human expertise, paving the way for optimized postrhinoplasty recovery care.

Super-Enhancers and Their Parts: From Prediction Efforts to Pathognomonic Status.

Super-enhancers (SEs) are regions of the genome that play a crucial regulatory role in gene expression by promoting large-scale transcriptional responses in various cell types and tissues. Recent research suggests that alterations in super-enhancer activity can contribute to the development and progression of various disorders. The aim of this research is to explore the multifaceted roles of super-enhancers in gene regulation and their significant implications for understanding and treating complex diseases. Here, we study and summarise the classification of super-enhancer constituents, their possible modes of interaction, and cross-regulation, including super-enhancer RNAs (seRNAs). We try to investigate the opportunity of SE dynamics prediction based on the hierarchy of enhancer single elements (enhancers) and their aggregated action. To further our understanding, we conducted an in silico experiment to compare and differentiate between super-enhancers and locus-control regions (LCRs), shedding light on the enigmatic relationship between LCRs and SEs within the human genome. Particular attention is paid to the classification of specific mechanisms and their diversity, exemplified by various oncological, cardiovascular, and immunological diseases, as well as an overview of several anti-SE therapies. Overall, the work presents a comprehensive analysis of super-enhancers across different diseases, aiming to provide insights into their regulatory roles and may act as a rationale for future clinical interventions targeting these regulatory elements.

Multisite Detection of Tn1549-Mediated vanB Vancomycin Resistance in Multidrug-Resistant Enterococcus faecalis ST6 in Texas and Florida.

In the United States, vanB-mediated resistance in enterococci is rare. We characterized three sequence type (ST) 6, vancomycin-resistant Enterococcus faecalis isolates causing bacteremia in unique patients in spatiotemporally distinct settings. Isolates were recovered between 2018 and 2020 in two cities in the United States (Houston, TX; Miami, FL). The isolates harbored the vanB operon on a chromosomally located Tn1549 transposon, and epidemiological data suggested multiple introductions of the vanB gene cluster into ST6 E. faecalis.

Fast unconscious processing of emotional stimuli in early stages of the visual cortex.

Several cortical and subcortical brain areas have been reported to be sensitive to the emotional content of subliminal stimuli. However, the timing of these activations remains unclear. Our scope was to detect the earliest cortical traces of emotional unconscious processing of visual stimuli by recording event-related potentials (ERPs) from 43 participants. Subliminal spiders (emotional) and wheels (neutral), sharing similar low-level visual parameters, were presented at two different locations (fixation and periphery). The differential (peak-to-peak) amplitude from CP1 (77 ms from stimulus onset) to C2 (100 ms), two early visual ERP components originated in V1/V2 according to source localization analyses, was analyzed via Bayesian and traditional frequentist analyses. Spiders elicited greater CP1-C2 amplitudes than wheels when presented at fixation. This fast effect of subliminal stimulation-not reported previously to the best of our knowledge-has implications in several debates: 1) The amygdala cannot be mediating these effects, 2) latency of other evaluative structures recently proposed, such as the visual thalamus, is compatible with these results, 3) the absence of peripheral stimuli effects points to a relevant role of the parvocellular visual system in unconscious processing.

IGF-Binding Proteins and Their Proteolysis as a Mechanism of Regulated IGF Release in the Nervous Tissue.

Insulin-like growth factors 1 and 2 (IGF-1 and IGF-2) play a key role in the maintenance of the nervous tissue viability. IGF-1 and IGF-2 exhibit the neuroprotective effects by stimulating migration and proliferation of nervous cells, activating cellular metabolism, inducing regeneration of damaged cells, and regulating various stages of prenatal and postnatal development of the nervous system. The availability of IGFs for the cells is controlled via their interaction with the IGF-binding proteins (IGFBPs) that inhibit their activity. On the contrary, the cleavage of IGFBPs by specific proteases leads to the IGF release and activation of its cellular effects. The viability of neurons in the nervous tissue is controlled by a complex system of trophic factors secreted by auxiliary glial cells. The main source of IGF for the neurons are astrocytes. IGFs can accumulate as an extracellular free ligand near the neuronal membranes as a result of proteolytic degradation of IGFBPs by proteases secreted by astrocytes. This mechanism promotes interaction of IGFs with their genuine receptors and triggers intracellular signaling cascades. Therefore, the release of IGF by proteolytic cleavage of IGFBPs is an important mechanism of neuronal protection. This review summarizes the published data on the role of IGFs and IGFBPs as the key players in the neuroprotective regulation with a special focus on the specific proteolysis of IGFBPs as a mechanism for the regulation of IGF bioavailability and viability of neurons.

Primary Retinal Cell Cultures as a Model to Study Retina Biology.

Since its inception, primary retinal cultures have been an in vitro tool for modeling the in vivo environment of the retina for biological studies on development and disease. They offer simple and controlled experimental approaches when compared to in vivo models. In this review we highlight the strengths and weaknesses of primary retinal culture models, and the features of dispersed retinal cell cultures.

[Public, private, and public-private partnerships to implement One Health as an action to address antimicrobial resistance in ColombiaParcerias públicas, privadas e público-privadas para a implementação da Saúde Única como uma ação contra a resistência a antimicrobianos na Colômbia]. / Alianzas públicas, privadas y público-privadas para implementar Una Salud como acción contra la resistencia antimicrobiana en Colombia.

This article describes the importance of public-private partnerships (PPPs) and public-private coordination to address antimicrobial resistance (AMR) through the One Health approach. These partnerships are developed between governmental actors, private companies, and social organizations to build agendas, decision-making, and the management of projects of common interest. A case study from Colombia is presented. It describes examples of response from the public sector when the World Health Organization (WHO) reported a colistin resistance alert in 2016; from the animal protein production sector under an industry partnership for the rational use of antimicrobials; and, finally, from a public-private partnership in the swine sector, with governmental institutions and international cooperation, to take action to mitigate the risk of AMR. In Colombia, the establishment of partnerships with organizations representing agricultural producers has generated impactful actions such as strengthening ongoing communication channels between the public and private sectors; characterizing the conditions of the agricultural production chain; establishing mechanisms for consultation and validation of health policies related to AMR; obtaining a baseline of indicator pathogens and identification of possible flows of AMR spread; and, finally, achieving knowledge transfer and capacity-building with national and international experts, with actions to raise awareness about the problem of AMR and its impact on public health. The strategic model developed in Colombia through public-private collaboration can inspire other low- and middle-income countries to optimize their use of resources to obtain results that contribute to the national AMR mitigation plan.

Este artigo descreve a importância das parcerias públicas e das parcerias privadas (PPP) e da articulação público-privada no enfrentamento da resistência a antimicrobianos (RAM) utilizando a abordagem de Saúde Única. Essas parcerias são formadas entre atores governamentais, empresas privadas e organizações sociais para elaborar agendas, tomar decisões e gerir projetos de interesse comum. Este artigo apresenta um estudo de caso da Colômbia, no qual são apresentados exemplos do setor público diante do alerta de resistência à colistina emitido pela Organização Mundial da Saúde (OMS) em 2016, a formação de uma aliança intersetorial pelos setores de produção de proteína animal para promover o uso racional de antimicrobianos e, por último, a formação de uma parceria público-privada composta pelo setor suinícola e por instituições governamentais e cooperação internacional para que a implementação de medidas de mitigação do risco de RAM. Na Colômbia, a criação de parcerias com organizações representantes dos setores de produção agropecuária geraram ações de impacto, como o fortalecimento de canais permanentes de comunicação entre os setores público e privado, a caracterização das condições da cadeia de produção agropecuária, o estabelecimento de mecanismos de consulta e validação das políticas de saúde voltadas para a RAM, a obtenção de uma linha de base de patógenos indicadores e identificação de possíveis fluxos de propagação de RAM e, por fim, a transferência de conhecimentos e capacitação envolvendo especialistas nacionais e internacionais, com ações de conscientização sobre o problema e seu impacto na saúde pública. O modelo estratégico desenvolvido na Colômbia por meio da colaboração público-privada pode inspirar outros países de baixa e média renda a obter resultados, pela otimização de recursos, que contribuam para o plano nacional de mitigação da RAM.

Effectiveness of ChatGPT in Identifying and Accurately Guiding Patients in Rhinoplasty Complications.

Postoperative complications in rhinoplasty require prompt intervention for optimal outcomes. ChatGPT, an artificial intelligence (AI) tool, offers potential for assisting in postoperative care.This study aims to assess ChatGPT's effectiveness in providing guidance for various rhinoplasty complications.Different complication scenarios were input into ChatGPT. Responses were categorized into "Contact Surgeon" or "Follow Postoperative Instructions."ChatGPT consistently advised immediate surgeon contact for infection. For other complications, it recommended monitoring and adhering to instructions while suggesting surgeon contact if concerns persisted.ChatGPT shows promise in aiding patients' postoperative care by accurately identifying cases necessitating communication with surgeons or emergency care. This research underscores AI's potential in enhancing patient-centered care and contributes to the evolving landscape of health care practices.

Gut Microbiota Patterns in Patients with Non-Alcoholic Fatty Liver Disease: A Comprehensive Assessment Using Three Analysis Methods.

Non-alcoholic fatty liver disease (NAFLD) is considered the most common chronic liver disease worldwide, affecting nearly 25% of the global adult population. Increasing evidence suggests that functional and compositional changes in the gut microbiota may contribute to the development and promote the progression of NAFLD. 16S rRNA gene next-generation sequencing is widely used to determine specific features of the NAFLD microbiome, but a complex system such as the gut microbiota requires a comprehensive approach. We used three different approaches: MALDI-TOF-MS of bacterial cultures, qPCR, and 16S NGS sequencing, as well as a wide variety of statistical methods to assess the differences in gut microbiota composition between NAFLD patients without significant fibrosis and the control group. The listed methods showed enrichment in Collinsella sp. and Oscillospiraceae for the control samples and enrichment in Lachnospiraceae (and in particular Dorea sp.) and Veillonellaceae in NAFLD. The families, Bifidobacteriaceae, Lactobacillaceae, and Enterococcaceae (particularly Enterococcus faecium and Enterococcus faecalis), were also found to be important taxa for NAFLD microbiome evaluation. Considering individual method observations, an increase in Candida krusei and a decrease in Bacteroides uniformis for NAFLD patients were detected using MALDI-TOF-MS. An increase in Gracilibacteraceae, Chitinophagaceae, Pirellulaceae, Erysipelatoclostridiaceae, Muribaculaceae, and Comamonadaceae, and a decrease in Acidaminococcaceae in NAFLD were observed with 16S NGS, and enrichment in Fusobacterium nucleatum was shown using qPCR analysis. These findings confirm that NAFLD is associated with changes in gut microbiota composition. Further investigations are required to determine the cause-and-effect relationships and the impact of microbiota-derived compounds on the development and progression of NAFLD.

The citizenship shield: Mediated and moderated links between immigration status, discrimination, food insecurity, and negative health outcomes for latinx immigrants during the COVID-19 pandemic.

A framework termed "the citizenship shield" is introduced to conceptualize how legal protections buffer against negative health outcomes among Latinx immigrants in the United States. In this study, we tested the citizenship shield framework in the context of the disproportionate impact of the COVID-19 pandemic on Latinx immigrants. We investigated the connection between immigration status, discrimination, food insecurity, and negative health outcomes. Analyses involved testing mediation and moderation models among a community-based sample of 536 Latinx immigrants holding five statuses (i.e., U.S. citizenship, permanent residency, Deferred Action for Childhood Arrivals, undocumented, and temporary status). Results suggested that food insecurity mediated the link between discrimination and negative impacts from the pandemic for Latinx immigrants across all statuses. Follow up analyses suggested that two of the three paths were moderated by immigration status. This research provides novel, important data to inform health interventions and federal policy targeted for the most vulnerable immigrants in the United States.

Scarring in Rough Rectangular Billiards.

We study the mechanism of scarring of eigenstates in rectangular billiards with slightly corrugated surfaces and show that it is very different from that known in Sinai and Bunimovich billiards. We demonstrate that there are two sets of scar states. One set is related to the bouncing ball trajectories in the configuration space of the corresponding classical billiard. A second set of scar-like states emerges in the momentum space, which originated from the plane-wave states of the unperturbed flat billiard. In the case of billiards with one rough surface, the numerical data demonstrate the repulsion of eigenstates from this surface. When two horizontal rough surfaces are considered, the repulsion effect is either enhanced or canceled depending on whether the rough profiles are symmetric or antisymmetric. The effect of repulsion is quite strong and influences the structure of all eigenstates, indicating that the symmetric properties of the rough profiles are important for the problem of scattering of electromagnetic (or electron) waves through quasi-one-dimensional waveguides. Our approach is based on the reduction of the model of one particle in the billiard with corrugated surfaces to a model of two artificial particles in the billiard with flat surfaces, however, with an effective interaction between these particles. As a result, the analysis is conducted in terms of a two-particle basis, and the roughness of the billiard boundaries is absorbed by a quite complicated potential.

Evolution of transcriptional regulation of histidine metabolism in Gram-positive bacteria.

BACKGROUND: The histidine metabolism and transport (his) genes are controlled by a variety of RNA-dependent regulatory systems among diverse taxonomic groups of bacteria including T-box riboswitches in Firmicutes and Actinobacteria and RNA attenuators in Proteobacteria. Using a comparative genomic approach, we previously identified a novel DNA-binding transcription factor (named HisR) that controls the histidine metabolism genes in diverse Gram-positive bacteria from the Firmicutes phylum. RESULTS: Here we report the identification of HisR-binding sites within the regulatory regions of the histidine metabolism and transport genes in 395 genomes representing the Bacilli, Clostridia, Negativicutes, and Tissierellia classes of Firmicutes, as well as in 97 other HisR-encoding genomes from the Actinobacteria, Proteobacteria, and Synergistetes phyla. HisR belongs to the TrpR family of transcription factors, and their predicted DNA binding motifs have a similar 20-bp palindromic structure but distinct lineage-specific consensus sequences. The predicted HisR-binding motif was validated in vitro using DNA binding assays with purified protein from the human gut bacterium Ruminococcus gnavus. To fill a knowledge gap in the regulation of histidine metabolism genes in Firmicutes genomes that lack a hisR repressor gene, we systematically searched their upstream regions for potential RNA regulatory elements. As result, we identified 158 T-box riboswitches preceding the histidine biosynthesis and/or transport genes in 129 Firmicutes genomes. Finally, novel candidate RNA attenuators were identified upstream of the histidine biosynthesis operons in six species from the Bacillus cereus group, as well as in five Eubacteriales and six Erysipelotrichales species. CONCLUSIONS: The obtained distribution of the HisR transcription factor and two RNA-mediated regulatory mechanisms for histidine metabolism genes across over 600 species of Firmicutes is discussed from functional and evolutionary points of view.

A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?

We describe a sibling pair of Mennonite origin born from consanguineous parentage with a likely new phenotype of limb-girdle muscular dystrophy, short stature, ptosis, and tracheomalacia. Exome sequencing in the affected subjects identified a novel homozygous RAB3GAP2 missense variant as the potential causal variant. As RAB3GAP2 has been recently shown to be involved in the autophagy process, we analyzed patient-derived fibroblasts by fluorescence microscopy and demonstrated defective autophagic flux under rapamycin and serum starvation conditions when compared with wild-type cells. The phenotype in the siblings described here is distinct from Martsolf and Warburg's micro syndromes, the currently known diseases arising from RAB3GAP2 pathogenic variants. Thus, this work describes a potentially novel recessive phenotype associated with a RAB3GAP2 defect and manifesting as a muscular dystrophy-short stature disorder with no ocular anomalies. Functional analyses indicated defective autophagy in patient-derived fibroblasts, supporting the involvement of RAB3GAP2 in the etiology of this disorder. Our results contribute to a better characterization of the Martsolf/micro spectrum phenotype.