Experimental Validation of an Upper Limb Benchmarking Framework in Healthy and Post-Stroke Individuals: A Pilot Study.

In the context of neurorehabilitation, there have been rapid and continuous improvements in sensors-based clinical tools to quantify limb performance. As a result of the increasing integration of technologies in the assessment procedure, the need to integrate evidence-based medicine with benchmarking has emerged in the scientific community. In this work, we present the experimental validation of our previously proposed benchmarking scheme for upper limb capabilities in terms of repeatability, reproducibility, and clinical meaningfulness. We performed a prospective multicenter study on neurologically intact young and elderly subjects and post-stroke patients while recording kinematics and electromyography. 60 subjects (30 young healthy, 15 elderly healthy, and 15 post-stroke) completed the benchmarking protocol. The framework was repeatable among different assessors and instrumentation. Age did not significantly impact the performance indicators of the scheme for healthy subjects. In post-stroke subjects, the movements presented decreased smoothness and speed, the movement amplitude was reduced, and the muscular activation showed lower power and lower intra-limb coordination. We revised the original framework reducing it to three motor skills, and we extracted 14 significant performance indicators with a good correlation with the ARAT clinical scale. The applicability of the scheme is wide, and it may be considered a valuable tool for upper limb functional evaluation in the clinical routine.

Extended and Long-term Cancer Survivorship of Childhood Survivors: A Scoping Review of Nursing Evidence With Bibliometric Analysis.

BACKGROUND: With the increasing survival rates of childhood cancer, nurses' familiarity with published evidence has become crucial to care for this population and their families throughout the survival process. OBJECTIVE: To systematically identify and conduct a bibliometric analysis of nursing-related evidence concerning extended and long-term survival of childhood survivors. METHODS: A scoping review was conducted using bibliometric analysis with searches performed in the PubMed, CINAHL, SCOPUS, and Web of Science databases. A total of 300 studies on childhood cancer survival within the nursing field were included. RESULTS: The first study on this topic was published in 1975. American and Chinese researchers lead study publications, primarily publishing in nursing journals such as Cancer Nursing. Quantitative designs were prevalent, and the majority of the studies focused on physical late effects, overall quality of life, and survivor follow-up care. CONCLUSIONS: This study has allowed us to map and synthesize the bibliometric evidence pertaining to the extended and long-term survivorship of childhood cancer survivors in the nursing field. Consequently, it identifies gaps in knowledge, research trends, and areas necessitating further exploration. IMPLICATIONS FOR PRACTICE: The evidence presented in this review can facilitate academic and clinical discussions, offering a comprehensive synthesis of the published knowledge. More research needs to be developed on the topic, particularly in Central and Latin America, Africa, Southern and Eastern Europe, and in some regions of Asia. Furthermore, the scope of studies should extend beyond late effects and quality of life, encompassing the experience of surviving childhood cancer, including psychosocial and spiritual dimensions.

"Perinatal loss, a devastating cyclone": A situation-specific nursing theory.

PURPOSE: The aim of this paper is to develop a preliminary theory that explores in depth into understanding the experiences of women who have suffered a spontaneous perinatal loss during any trimester of their pregnancy regarding their emotional response to this loss. DESIGN: A grounded theory approach was used, and 25 in-depth interviews were conducted with Spanish women who suffered a spontaneous perinatal loss. METHODS: Theoretical sampling and constant comparative analysis were used to reach theoretical saturation. EQUATOR guidelines were followed, using the COREQ checklist. RESULTS: The "Perinatal loss, a devastating cyclone," a situation-specific nursing theory, explains the process that a woman experiences when she loses her baby at any stage of pregnancy, drawing an analogy with tropical cyclones as natural disasters that destroy everything in their path. This situation-specific theory includes three dimensions, explaining the phases identified in the perinatal loss process (phase prior to impact [before the perinatal loss], impact phase [diagnostic moment], emergency phase [hospital care], relief or honeymoon phase [return home], disillusionment or stock-taking phase [after the first postloss days at home], reconstruction and recovery phase [grief construction process] and consequences [with an eye to the future]). Three intervention areas were described around the perinatal loss process: "rescue area" (partner, grandparents, and siblings of the deceased baby), "relief area" (healthcare professionals), and "base camp" (society). CONCLUSION: The situation-specific nursing theory "Perinatal loss, a devastating cyclone" is the final product of a grounded theory study that provided an in-depth analysis of women's experiences when they suffer a spontaneous perinatal loss at any point in their pregnancy. CLINICAL RELEVANCE: The situation-specific theory "Perinatal loss, a devastating cyclone" with the seven identified phases and the three areas of intervention could be used as a framework for healthcare professionals in their clinical practice as a guide to support women in this disfranchised grief.

Interleukin 27, like interferons, activates JAK-STAT signaling and promotes pro-inflammatory and antiviral states that interfere with dengue and chikungunya viruses replication in human macrophages.

Interferons (IFNs) are a family of cytokines that activate the JAK-STAT signaling pathway to induce an antiviral state in cells. Interleukin 27 (IL-27) is a member of the IL-6 and/or IL-12 family that elicits both pro- and anti-inflammatory responses. Recent studies have reported that IL-27 also induces a robust antiviral response against diverse viruses, both in vitro and in vivo, suggesting that IFNs and IL-27 share many similarities at the functional level. However, it is still unknown how similar or different IFN- and IL-27-dependent signaling pathways are. To address this question, we conducted a comparative analysis of the transcriptomic profiles of human monocyte-derived macrophages (MDMs) exposed to IL-27 and those exposed to recombinant human IFN-α, IFN-γ, and IFN-λ. We utilized bioinformatics approaches to identify common differentially expressed genes between the different transcriptomes. To verify the accuracy of this approach, we used RT-qPCR, ELISA, flow cytometry, and microarrays data. We found that IFNs and IL-27 induce transcriptional changes in several genes, including those involved in JAK-STAT signaling, and induce shared pro-inflammatory and antiviral pathways in MDMs, leading to the common and unique expression of inflammatory factors and IFN-stimulated genes (ISGs)Importantly, the ability of IL-27 to induce those responses is independent of IFN induction and cellular lineage. Additionally, functional analysis demonstrated that like IFNs, IL-27-mediated response reduced chikungunya and dengue viruses replication in MDMs. In summary, IL-27 exhibits properties similar to those of all three types of human IFN, including the ability to stimulate a protective antiviral response. Given this similarity, we propose that IL-27 could be classified as a distinct type of IFN, possibly categorized as IFN-pi (IFN-π), the type V IFN (IFN-V).

Unraveling sex-specific risks of knee osteoarthritis before menopause: Do sex differences start early in life?

OBJECTIVE: Sufficient evidence within the past two decades have shown that osteoarthritis (OA) has a sex-specific component. However, efforts to reveal the biological causes of this disparity have emerged more gradually. In this narrative review, we discuss anatomical differences within the knee, incidence of injuries in youth sports, and metabolic factors that present early in life (childhood and early adulthood) that can contribute to a higher risk of OA in females. DESIGN: We compiled clinical data from multiple tissues within the knee joint-since OA is a whole joint disorder-aiming to reveal relevant factors behind the sex differences from different perspectives. RESULTS: The data gathered in this review indicate that sex differences in articular cartilage, meniscus, and anterior cruciate ligament are detected as early as childhood and are not only explained by sex hormones. Aiming to unveil the biological causes of the uneven sex-specific risks for knee OA, we review the current knowledge of sex differences mostly in young, but also including old populations, from the perspective of (i) human anatomy in both healthy and pathological conditions, (ii) physical activity and response to injury, and (iii) metabolic signatures. CONCLUSIONS: We propose that to close the gap in health disparities, and specifically regarding OA, we should address sex-specific anatomic, biologic, and metabolic factors at early stages in life, as a way to prevent the higher severity and incidence of OA in women later in life.

Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension.

Childhood-onset essential hypertension (COEH) is an uncommon form of hypertension that manifests in childhood or adolescence and, in the United States, disproportionately affects children of African ancestry. The etiology of COEH is unknown, but its childhood onset, low prevalence, high heritability, and skewed ancestral demography suggest the potential to identify rare genetic variation segregating in a Mendelian manner among affected individuals and thereby implicate genes important to disease pathogenesis. However, no COEH genes have been reported to date. Here, we identify recessive segregation of rare and putatively damaging missense variation in the spectrin domain of spectrin repeat containing nuclear envelope protein 1 (SYNE1), a cardiovascular candidate gene, in 3 of 16 families with early-onset COEH without an antecedent family history. By leveraging exome sequence data from an additional 48 COEH families, 1,700 in-house trios, and publicly available data sets, we demonstrate that compound heterozygous SYNE1 variation in these COEH individuals occurred more often than expected by chance and that this class of biallelic rare variation was significantly enriched among individuals of African genetic ancestry. Using in vitro shRNA knockdown of SYNE1, we show that reduced SYNE1 expression resulted in a substantial decrease in the elasticity of smooth muscle vascular cells that could be rescued by pharmacological inhibition of the downstream RhoA/Rho-associated protein kinase pathway. These results provide insights into the molecular genetics and underlying pathophysiology of COEH and suggest a role for precision therapeutics in the future.

Health care: life stories by trans women in Colombia.

BACKGROUND: In Colombia, health care for people with trans life experiences is characterised by countless barriers to health services and care. Commonly, trans people have experienced stigma and discrimination among health professionals, a lack of services and professionals specialized to guarantee affirmative processes from non-hegemonic gender perspectives, and there exists a marked pathologization and medicalization of services. Therefore, it is necessary to provide affirmative health services to improve health and well-being from the recognition of their needs and experiences. The article describes life narratives about health care for the gender transitions of trans women in Colombia. METHODS: A qualitative narrative study was conducted with 139 trans women in seven cities in Colombia. In-depth interviews and discussion groups were conducted between June 2019 and March 2020. Data were analyzed using thematic analysis and the Atlas Ti cloud program. National and international ethical guidelines were followed in the development of the research. RESULTS: This research provided an overview of the health experiences of Colombian trans women. They reported their experiences of pathologizing approaches to transgender healthcare, stigma, discrimination, and barriers to accessing preventive, specialized, and regular healthcare services. For this reason, they opted for self-medicated gender transition processes and self-management of health care. An important aspect to consider within healthcare is that not all women want binary gender transition processes. CONCLUSION: Participants felt that in Colombia there is a lack of affirmative health care for transgender women and that there are many limitations to care related to the gender transition processes. This exposes them to more situations that violate their rights and influences their lack of confidence and their search for professional health care. In Colombia, it is important to develop strategies for education, information, and communication, as well as a handbook for health workers on specialized healthcare for trans women.

The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.

RNA sequencing (RNA-seq) has recently been used in translational research settings to facilitate diagnoses of Mendelian disorders. A significant obstacle for clinical laboratories in adopting RNA-seq is the low or absent expression of a significant number of disease-associated genes/transcripts in clinically accessible samples. As this is especially problematic in neurological diseases, we developed a clinical diagnostic approach that enhanced the detection and evaluation of tissue-specific genes/transcripts through fibroblast-to-neuron cell transdifferentiation. The approach is designed specifically to suit clinical implementation, emphasizing simplicity, cost effectiveness, turnaround time, and reproducibility. For clinical validation, we generated induced neurons (iNeurons) from 71 individuals with primary neurological phenotypes recruited to the Undiagnosed Diseases Network. The overall diagnostic yield was 25.4%. Over a quarter of the diagnostic findings benefited from transdifferentiation and could not be achieved by fibroblast RNA-seq alone. This iNeuron transcriptomic approach can be effectively integrated into diagnostic whole-transcriptome evaluation of individuals with genetic disorders.

Use of Online Communities among People with Type 2 Diabetes: A Scoping Review.

PURPOSE OF REVIEW: People with diabetes require continuous self-monitoring and face numerous decisions in their day-to-day lives. Therefore, on many occasions, they need more support than that provided by health professionals. In this context, peer support in online diabetes communities could be a useful tool. The purpose of the review is to describe, analyze and synthesize the available evidence on the use and health out-comes of online communities for people with type 2 diabetes mellitus. A scoping review was conducted in accordance with the Joanna Briggs Institute guidelines. Searches were performed PubMed, Web of Science, CINHAL, Scopus and Cochrane databases. RECENT FINDINGS: From 1821 identified documents, 6 articles were included. These studies explored the characteristics of diabetes online communities and the population features. Besides, the results were classified according to whether they were clinical, psychosocial, or addressed people's experiences with the online community. The analysis underscores their value in facilitating communication, improving diabetes management, and enhancing psychosocial well-being. Future investigations should prioritize longitudinal assessments to elucidate the sustained impact of community engagement and optimize user participation for enhanced patient outcomes. The growing relevance of new technologies has led to a significant number of individuals with chronic illnesses seeking peer support. Online health communities have emerged as virtual spaces where individuals with shared health interests interact and form relationships. Within these digital spaces, individuals can engage in peer interaction, observe behaviors, and mutually benefit, potentially leading to improved attitudes toward the disease.

Effect of combined treatment with prednisone and methotrexate versus prednisone alone over laboratory parameters in giant cell arteritis.

OBJECTIVE: To compare the effect of combined treatment with prednisone and methotrexate (MTX) versus prednisone alone over laboratory parameters in giant cell arteritis (GCA). PATIENTS AND METHODS: We performed a double-blind, placebo-controlled, randomized clinical trial about usefulness of treatment with prednisone and MTX versus prednisone and placebo in GCA (Ann Intern Med 2001;134:106-114). As a part of follow-up of patients (n=42), we performed laboratory analysis in 20 time points during the two-year period of follow-up. To analyze differences, we calculated the area under the curve (AUC) for erythrocyte sedimentation rate (ESR), hemoglobin, and platelets, and compared the results in both groups adjusting by time of follow-up, existence of relapses and dose of prednisone. RESULTS: A total of 724 laboratory measurements were done. Median value of ESR was 33 [18-56] in patients with placebo and 26 [15-44] in patients with MTX (P=0.0002). No significant differences were observed in ESR during relapses. The mean ESR value followed a parallel course in both groups, but was lower in the group with MTX than in the group with placebo in 18 of 20 time points of follow-up. The AUC of ESR by time of follow-up was 28,461.7±12,326 in the group with placebo and 19,598.4±8,117 in the group with MTX (mean difference 8,863, 95% CI 1.542-16.184; P=0.019). The course of other laboratory parameters paralleled, without statistical significance, those observed for ESR. CONCLUSIONS: These data, along with clinical data, suggest that MTX might play a role as a disease-modifying agent in the treatment of GCA.

How are intra-household dynamics, gender roles and time availability related to food access and children's diet quality during the Covid-19 lockdown?

The association between food access and children's diet quality has been documented mainly from its external dimension (e.g., availability, prices, food properties, and marketing). However, existing research has underscored that the external food environment cannot fully account for variations in children's diet quality, even amid the COVID-19 lockdown. It is increasingly evident that elements within the domestic food environment also play a crucial role in shaping this relationship. Specifically, gender roles influence how food is procured and consumed, along with challenges related to time constraints. This study explores the influence of the domestic time-gender axis and household dynamics in food access and children's dietary quality in 14 female-headed households in Santiago, Chile, during the COVID-19 lockdown. Employing a photo-elicitation exercise, we engaged with families residing in the same urban neighborhood but exhibiting varying levels of dietary quality among their children. Our analysis utilized a framework incorporating both socio-ecological food environment and gender theories. Our findings show that within these households, only one unit of "person-time" was available to address all food and caregiving tasks. Due to an unequal gender system, this limited time allocation was disproportionately absorbed by women, who were already burdened with multiple responsibilities. The lack of time favors the consumption of ultra-processed foods and hinders the intake of fresh foods. Other associated intrahousehold dynamics, such as children's fussiness and special diets, accentuates these time scarcity consequences. These difficulties were further exacerbated by strategies adopted in response to the COVID-19 lockdown, however, in families where food-related responsibilities were shared more equitably the lockdown was less disrupting. These results indicate that on top of external food environment policies, comprehensive gender-transformative policies that include food socialization processes are needed to promote healthier diets among all.

Fabrication of Micropatterns of Aligned Collagen Fibrils.

Many tissues in vivo contain aligned structures such as filaments, fibrils, and fibers, which expose cells to anisotropic structural and topographical cues that range from the nanometer to micrometer scales. Understanding how cell behavior is regulated by these cues during physiological and pathological processes (e.g., wound healing, cancer invasion) requires substrates that can expose cells to anisotropic cues over several length scales. In this study, we developed a novel method of fabricating micropatterns of aligned collagen fibrils of different geometry onto PDMS-coated glass coverslips that allowed us to investigate the roles of topography and confinement on corneal cell behavior. When corneal cells were cultured on micropatterns of aligned collagen fibrils in the absence of confinement, the degree of cell alignment increased from 40 ± 14 to 82 ± 5% as the size of the micropattern width decreased from 750 to 50 µm. Although the cell area (∼2500 µm2), cell length (∼160 µm), and projected nuclear area (∼175 µm2) were relatively constant on the different micropattern widths, cells displayed an increased aspect ratio as the width of the aligned collagen fibril micropatterns decreased. We also observed that the morphology of cells adhering to the surrounding uncoated PDMS was dependent upon both the size of the aligned collagen fibril micropattern and the distance from the micropatterns. When corneal cells were confined to the micropatterns of aligned collagen fibrils by a Pluronic coating to passivate the surrounding area, a similar trend in increasing cell alignment was observed (35 ± 10 to 89 ± 2%). However, the projected nuclear area decreased significantly (∼210 to 130 µm2) as the micropattern width decreased from 750 to 50 µm. The development of this method allows for the deposition of aligned collagen fibril micropatterns of different geometries on a transparent and elastic substrate and provides an excellent model system to investigate the role of anisotropic cues in cell behavior.

Mononeuritis Multiplex Due to Hansen's Disease: A Look Through Ultrasound and Electrodiagnosis.

Hansen's disease is caused by Mycobacterium leprae. This bacillus can invade the peripheral nerves asymmetrically, including the ulnar, median, and radial nerves, causing mononeuritis multiplex. We present the case of a 41-year-old man with a history of Hansen's disease with sensory and motor symptoms. Electrodiagnostic studies and ultrasound showed asymmetric lesions of the median, ulnar, and radial nerves. Because this is the main complication of this pathology, electrodiagnosis is clearly valuable for its diagnosis, demonstrating axonal and myelin involvement, as well as signs of denervation and reinnervation. Ultrasound is valuable in the detection, diagnosis, and assessment of the extent of mononeuritis multiplex due to Hansen's disease. It aids in identifying significant inflammatory deterioration, as indicated by increased blood flow in the nerves and enlargement of the nerves. This technique allows for the exploration of nerves such as the ulnar nerve and branches of the brachial plexus. In a complementary way, ultrasound provides information on the severity of the disease. Early diagnosis of this entity is essential because it can generate aesthetic and functional permanent affectation.

Linear Free Energy Relationship for Predicting the Rate Constants of Munition Compound Reduction by the Fe(II)-Hematite and Fe(II)-Goethite Redox Couples.

Abiotic reduction by iron minerals is arguably the most important fate process for munition compounds (MCs) in subsurface environments. No model currently exists that can predict the abiotic reduction rates of structurally diverse MCs by iron (oxyhydr)oxides. We performed batch experiments to measure the rate constants for the reduction of three classes of MCs (poly-nitroaromatics, nitramines, and azoles) by hematite or goethite in the presence of aqueous Fe2+. The surface area-normalized reduction rate constant (kSA) depended on the aqueous-phase one-electron reduction potential (EH1) of the MC and the thermodynamic state (i.e., pe and pH) of the iron oxide-Feaq2+ system. A linear free energy relationship (LFER), similar to that reported previously for nitrobenzene, successfully captures all MC reduction rate constants that span 6 orders of magnitude: log(kSA)=(1.12±0.04)[0.53EH159mV-(pH+pe)]+(5.52±0.23). The finding that the rate constants of all the different classes of MCs can be described by a single LFER suggests that these structurally diverse nitro compounds are reduced by iron oxide-Feaq2+ couples through a common mechanism up to the rate-limiting step. Multiple mechanistic implications of the results are discussed. This study expands the applicability of the LFER model for predicting the reduction rates of legacy and emerging MCs and potentially other nitro compounds.

Thermodynamic Two-Site Surface Reaction Model for Predicting Munition Constituent Reduction Kinetics with Iron (Oxyhydr)oxides.

Iron (oxyhydr)oxides comprise a significant portion of the redox-active fraction of soils and are key reductants for remediation of sites contaminated with munition constituents (MCs). Previous studies of MC reduction kinetics with iron oxides have focused on the concentration of sorbed Fe(II) as a key parameter. To build a reaction kinetic model, it is necessary to predict the concentration of sorbed Fe(II) as a function of system conditions and the redox state. A thermodynamic framework is formulated that includes a generalized double-layer model that utilizes surface acidity and surface complexation reactions to predict sorbed Fe(II) concentrations that are used for fitting MC reduction kinetics. Monodentate- and bidentate Fe(II)-binding sites are used with individual oxide sorption characteristics determined through data fitting. Results with four oxides (goethite, hematite, lepidocrocite, and ferrihydrite) and four nitro compounds (NB, CN-NB, Cl-NB, and NTO) from six separate studies have shown good agreement when comparing observed and predicted surface area-normalized rate constants. While both site types are required to reproduce the experimental redox titration, only the monodentate site concentration controls the MC reaction kinetics. This model represents a significant step toward predicting the timescales of MC degradation in the subsurface.

Efficacy of educational interventions in adolescent population with feeding and eating disorders: a systematic review.

BACKGROUND: Educational interventions are a key element in the care of young patients with feeding and eating disorders, forming part of the majority of therapeutic approaches. The aim of this review is to evaluate the impact of educational interventions in adolescents with feeding and eating disorders. METHODS: Following the PRISMA recommendations electronic databases were searched up to 29 June 2023. Studies related to educational interventions in young population diagnosed with feeding and eating disorders (anorexia nervosa, avoidant/restrictive food intake disorder, bulimia nervosa, pica and ruminative disorders and binge- eating disorder) in Spanish and English language, without temporal limitation, were located in the databases: PubMed, Scopus, CINAHL, Cochrane Library, PsycINFO, CUIDEN, DIALNET, and ENFISPO. A search in the databases of grey literature was performed in OpenGrey and Teseo. The review protocol was registered in PROSPERO (CRD42020167736). RESULTS: A total of 191 articles were selected from the 9744 citations screened. Ten publications were included. The results indicated variability between educational programs, including individual and group interventions, learning techniques and various research methodologies. Variables such as learning, attitudinal and perceptual changes, anthropometric parameters, symptom improvement, normalization of eating patterns, evaluation of the program and cognitive flexibility were identified. The risk of bias was high due to the low methodological quality of a large number of studies analyzed. CONCLUSION: The results indicate that educational interventions can influence the improvement of knowledge level and have a positive effect on health outcomes. Although education is a common practice in the treatment of these pathologies, high-quality studies were not identified. Thus, this review concludes that additional evidence is needed to evaluate the effectiveness of educational programs, with further research studies, especially randomized controlled trials, to confirm these results. LEVEL OF EVIDENCE: Level I: Systematic review.

Proposal of nursing diagnosis "adult disuse syndrome": A conceptual derivation and integrative review.

PURPOSE: To develop a nursing diagnosis proposal derived from the concept of "disuse syndrome" based on an integrative review. METHODS: The conceptual derivation technique, proposed by Walker and Avant, was used in the following phases: an integrative review of the literature was carried out, applying the parameters of Whitermore and Knalf, where 43 articles were selected that covered the existence of the concept in the nursing discipline and other health sciences, the concepts were subsequently analyzed, and the new concept was redefined following the middle-range theory of causality and validation of nursing diagnoses proposed by Oliveira-Lopes et al. FINDINGS: The proposal of the new nursing diagnosis was developed, including the following elements: diagnostic label adult disuse syndrome, the corresponding definition, 25 defining characteristics, eight related factors, eight risk populations, and 14 associated problems. CONCLUSIONS: The concept of the proposed new diagnosis describes adult disuse syndrome as a phenomenon that transcends the physiological component and should be viewed from a multidimensional view, expressing a clinical judgment related to a series of nursing diagnoses that appear together. IMPLICATIONS FOR NURSING PRACTICE: The results of this study will help nursing professionals to identify the phenomenon of adult disuse syndrome in any setting and in turn guide optimal care interventions that decrease the consequences of adult disuse syndrome.

Congenital Muscular Dystrophy Due to Merosin Deficiency: Report of a New Mutation.

Congenital muscular dystrophy due to merosin deficiency is one of the most common congenital muscular dystrophies. It is characterized by a LAMA2 gene mutation and causes varied clinical symptoms depending on the type of presentation. In this case report, we identified the importance of the medical history and the autosomal recessive expression, which compromises the sequencing of the LAMA2 gene, with a mutation variant c. 1854_1861dup (p. Leu621Hisfs*7), in homozygosity not described so far. As well as the phenotypic characteristics of the evidenced mutation. A 13-year-old patient presented with a clinical history that began at 18 months of age. According to the mother, the patient had a delay in neurological development and could not walk since he was 7. In addition, contractures were observed in the lower extremity, elbows, and fingers of both hands. The patient also had scoliosis, bilateral hip dysplasia, and sleep apnea-hypopnea syndrome. However, cognitive function was unaffected. Extension studies revealed elevated creatine kinase levels, electromyography indicated muscle fiber involvement, and brain resonance imaging showed a hyperintense lesion at the periventricular level along with symmetrical supratentorial findings. Immunohistochemical studies of merosin showed incomplete reactivity and gene sequencing revealed evidence of a LAMA2 mutation: c. 1854_1861dup (p. Leu621Hisfs*7), in homozygosity. Congenital muscular dystrophy caused by merosin deficiency is characterized by the absence of laminin alpha-2. The clinical manifestation of this disease is a severe phenotype, mainly due to the early onset of the disease. In patients with mutations in the LAMA2 gene, the absence or partial reduction of laminin alpha-2 staining may allow some degree of ambulation, as it could indicate a partially functional protein. To complement clinical, immunohistochemical, and pathologic findings, ultrasound can be used as a potential tool for monitoring or assisting in the diagnosis of individuals with congenital muscular dystrophy. In this study, we performed sequencing of the LAMA2 gene, which revealed a homozygous c. 1854_1861dup (p. Leu621Hisfs*7) mutation. In addition, we describe the phenotypic features associated with this specific mutation.