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ABSTRACT Langerhans cell histiocytosis comprises a heterogeneous range of clinical manifestations secondary to clonal proliferation of histiocytes, characterized by the accumulation of these cells in various organs and tissues. The ophthalmological component commonly involved is the orbit. Herein, we report a rare case of Langerhans cell histiocytosis with eyelid involvement, which resulted in severe ocular surface complications, which subsequently significantly impacted the patient's quality of life. This case report highlights the fact that despite being rare, Langerhans cell histiocytosis should be included in the differential diagnosis of eyelid lesions. Furthermore, a multidisciplinary approach with a systemic overview is crucial for managing the ocular complications.

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Abstract Background Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous syndrome with variable phenotypes. Recent updates of TSC diagnostic criteria reaffirmed the defined genetic diagnostic criterion as the finding of a pathogenic DNA alteration in either TSC1 or TSC2 genes. It also slightly modified definite clinical diagnostic criteria. TSC-associated skin lesions in infancy are important clinical signs to select individuals with possible TSC for a closer clinical follow-up and genetic testing. Objective To raise awareness of the updated TSC diagnosis criteria; to assess the frequency of skin lesions in TSC patients as well as the first dermatological presentation; and to associate the findings with either TSC1 or TSC2 mutations. Methods Observational cross-sectional study. Clinical and genetic data were retrospectively collected from 37 TSC patients from a Brazilian University Hospital. Patients with skin signs were examined and prospectively assessed for 12 months. Results The earliest cutaneous lesions were hypomelanotic macules, which together with angiofibromas were the most frequent dermatological lesions. The total pathogenic DNA alteration ratio between TSC2 and TSC1 genes was 8:1. The frequency of a TSC2 pathogenic variant was 10-fold greater in the presence of ungual fibromas. Study limitations Small sample and a limited number of patients with TSC1 pathogenic variants. Conclusion Clinicians should be knowledgeable about TSC updated diagnostic criteria. Patients need to be followed up by a multidisciplinary team and treated accordingly. Early detection of cutaneous lesions is important for TSC diagnosis. A significant association between TSC2 gene pathogenic alterations and ungual fibromas is described.

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INTRODUCTION: Chimeric antigen receptor T (CAR-T) cell therapy is an innovative technology that has shown promising results in clinical trials. Treatment is based on modifying the patient's own T cells to express artificial surface receptors to specifically recognize and attack the tumor cells. OBJECTIVE: To synthesize available evidence on the incidence and management strategies of cytokine release syndrome in patients with diffuse large B-cell lymphoma who received CAR-T cell therapy. METHODS: This is a systematic literature review. The search was conducted in the PubMed, Scopus, and Web of science databases. This review followed the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines. The systematic review protocol is registered in the International Prospective Register of Systematic Reviews (PROSPERO) database under number CRD42022359258. RESULTS: Nineteen studies were included with a total of 1193 patients who received CAR-T cell therapy. Of these patients, 804 (67%) developed some degree of cytokine release syndrome. The frequencies of Grade 3 and 4 cytokine release syndrome were 10% and 3%, respectively. The regimen most used in the management of the syndrome included tocilizumab and/or glucocorticoids. CONCLUSION: The results obtained in this review demonstrate high rates of cytokine release syndrome in patients with diffuse large B-cell lymphoma treated with CAR-T cell therapy, however these events are manageable, supporting the conclusion that this therapy is safe in these patients.

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BACKGROUND: Congenital Myasthenic Syndromes (CMS) are rare genetic diseases, which share as a common denominator muscle fatigability due to failure of neuromuscular transmission. A distinctive clinical feature of presynaptic CMS variants caused by defects of the synthesis of acetylcholine is the association with life-threatening episodes of apnea. One of these variants is caused by mutations in the SLC5A7 gene, which encodes the sodium-dependent HC-3 high-affinity choline transporter 1 (CHT1). To our knowledge there are no published cases of this CMS type in Latin America. CASE PRESENTATION: We present two cases of CHT1-CMS. Both patients were males presenting with repeated episodes of apnea, hypotonia, weakness, ptosis, mild ophthalmoparesis, and bulbar deficit. The first case also presented one isolated seizure, while the second case showed global developmental delay. Both cases, exhibited incomplete improvement with treatment with pyridostigmine. CONCLUSIONS: This report emphasizes the broad incidence of CMS with episodic apnea caused by mutations in the SLC5A7 gene and the frequent association of this condition with serious manifestations of central nervous system involvement.

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To evaluate the effectiveness of photobiomodulation (PBM) in conjunction with an aerobic exercise program (AEP) on the level of pain and quality of life of women with fibromyalgia (FM). METHODS: A double-blinded randomized controlled trial in which 51 participants with FM were allocated into 4 groups: control group (CG) (n = 12); active PBM group (APG) (n = 12); AEP and placebo PBM group (EPPG) (n = 13); AEP and active PBM group (EAPG) (n = 14). AEP was performed on an ergometric bicycle; and a PBM (with an increase dosage regime) [20 J, 32 J and 40 J] was applied using a cluster device. Both interventions were performed twice a week for 12 weeks. A mixed generalized model analysis was performed, evaluating the time (initial and final) and group (EAPG, EPPG, APG and CG) interaction. All analyses were based on intent-to-treat for a significance level of p ≤ 0.05. RESULTS: The intra-group analysis demonstrated that all treated groups presented a significant improvement in the level of pain and quality of life comparing the initial and final evaluation (p < 0.05). Values for SF-36 and 6-minute walk test increased significant in intragroup analysis for EPPG comparing the initial and final evaluation. No intergroup differences were observed. CONCLUSIONS: Both exercised and PBM irradiated volunteers present improvements in the variables analyzed. However, further studies should be performed, with other PBM parameters to determine the best regime of irradiation to optimize the positive effects of physical exercises in FM patients.

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Posterior interosseous nerve syndrome is the most frequent syndrome of radial nerve compression, with the arcade of Frohse being the main site of compression. Its symptoms include difficulties in finger and wrist extension with possible radial deviation. Herein, we present a case of posterior interosseous syndrome caused by a schwannoma, a type of neurological tumor.

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OBJECTIVE: Use clinical pain measurement tools to investigate and compare the prevalence of pelvic loin disoders in women with and without endometriosis. STUDY DESIGN: Chronic pelvic pain (CPP) associated with endometriosis has diverse origins, including musculoskeletal factors. Musculoskeletal dysfunction in the pelvic region is theorized to result from sustained muscular contraction, triggered by altered visceral stimuli and adoption of antalgic postures, causing secondary damage to muscles, ligaments, and joints. CPP significantly impacts quality of life, relationships, sexuality, and mental health. However, limited data exists on musculoskeletal impacts of endometriosis and CPP. It was made a case-control study at Maternidade Escola Assis Chateaubriand from August 2017 to January 2021. Evaluated 71 women: 41 in endometriosis group (EG) and 30 in control group (CG). Data collection included sociodemographic questionnaires, musculoskeletal physiotherapeutic evaluations, pain mapping, pressure pain thresholds, kinesiophobia, and disability measurements. Statistical analysis was performed using Spearman's Rho test to determine correlations. RESULTS: Mean age of participants was 31 years. EG exhibited lower pain threshold variations in lumbopelvic trigger points than CG (P < .05). Significant muscle flexibility differences between groups were observed; EG had reduced flexibility (P < .05). Most common pain areas were hypogastrium in EG (48.78 %) and left lumbar in CG (30 %). EG had higher kinesiophobia values (P = .009). There was a weak association between kinesiophobia-pressure threshold association observed in CG's lumbar pelvic region. CONCLUSION: Women with Endometriosis and CPP exhibit higher prevalence of musculoskeletal disorder, lower pain thresholds, decreased lumbopelvic muscle range of motion, higher kinesiophobia scores, and increased disability indices with low back pain compared to healthy women.

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The myelodysplastic syndrome (MDS) is a heterogeneous group of clonal disorders of hematopoietic progenitor cells related to ineffective hematopoiesis and an increased risk of transformation to acute myelogenous leukemia. MDS is divided into categories, namely lineage dysplasia (MDS-SLD), MDS with ring sideroblasts (MDS-RS), MDS with multilineage dysplasia (MDS-MLD), MDS with excess blasts (MDS-EB). The International Prognostic Classification System (IPSS) ranks the patients as very low, low, intermediate, high, and very high based on disease evolution and survival rates. Evidence points to toll-like receptor (TLR) abnormal signaling as an underlying mechanism of this disease, providing a link between MDS and immune dysfunction. Microbial signals, such as lipopolysaccharides from gram-negative bacteria, can activate or suppress TLRs. Therefore, we hypothesized that MDS patients present gut microbiota alterations associated with disease subtypes and prognosis. To test this hypothesis, we sequenced the 16S rRNA gene from fecal samples of 30 MDS patients and 16 healthy elderly controls. We observed a negative correlation between Prevotella spp. and Akkermansia spp. in MDS patients compared with the control group. High-risk patients presented a significant increase in the genus Prevotella spp. compared to the other risk categories. There was a significant reduction in the abundance of the genus Akkermansia spp. in high-risk patients compared with low- and intermediate-risk. There was a significant decrease in the genus Ruminococcus spp. in MDS-EB patients compared with controls. Our findings show a new association between gut dysbiosis and higher-risk MDS, with a predominance of gram-negative bacteria.

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The relationship between socioeconomic level and health outcomes in older people has been widely studied, but less information about health inequalities associated with gender and place of residence exists. Also, there is scarce evidence of longitudinal inequalities, particularly in countries from the global south. This study aimed to describe the longitudinal patterns of health inequalities associated with wealth, gender, and residence area among older Mexican adults. We used data from two longitudinal studies in Mexico: The Study on Global AGEing and Adult Health (SAGE) and the Mexican Health and Aging Study (MHAS). Three domains to characterize health inequities were used: wealth, gender, and rurality. We conducted an outcome-wide analysis with nine health indicators assessing older adults' physical and cognitive function. The Slope Index of Inequality and the Relative Index of Inequality were used as inequality measurements. Our results indicate that the greatest inequalities are observed in relation to wealth and gender. Older adults with lower socioeconomic status demonstrated higher rates of depression, sarcopenia, falls, and limitations in both basic and instrumental activities of daily living compared to their wealthier counterparts, with increasing trends in physical functionality over time. Furthermore, women experienced higher rates of depression, sarcopenia, frailty, and physical limitations compared to men. The only significant difference related to rurality was a lower rate of frailty among rural older adults. Longitudinal trajectories revealed an increase in the gap of inequality for various health indicators, especially in terms of wealth and gender. Health inequalities in old age are one of the greatest challenges facing health systems globally. Actions like universal coverage of health services for older people and the empowerment of individuals and their communities to have control over their lives and circumstances must be guaranteed.

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Ataxia-telangiectasia (AT) is a rare genetic disorder leading to neurological defects, telangiectasias, and immunodeficiency. We aimed to study the clinical and immunological features of Latin American patients with AT and analyze factors associated with mortality. Referral centers from 9 Latin American countries participated in this retrospective cohort study, and 218 patients were included. Median (IQR) ages at symptom onset and diagnosis were 1.0 (1.0-2.0)  and 5.0 (3.0-8.0) years, respectively. Most patients presented recurrent airway infections, which was significantly associated with IgA deficiency. IgA deficiency was observed in 60.8% of patients and IgG deficiency in 28.6%. T- and B-lymphopenias were also present in most cases. Mean survival was 24.2 years, and Kaplan-Meier 20-year-survival rate was 52.6%, with higher mortality associated with female gender and low IgG levels. These findings suggest that immunologic status should be investigated in all patients with AT.

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SUMMARY: The objective of this study was to analyze the potential for compression of the median nerve (MN) caused by the bicipital aponeurosis (BA), the humeral and ulnar heads of the pronator teres muscle (PTM) and the arcade of the flexor digitorum superficialis muscle (FDS) in recently deceased cadavers. In this analysis 20 forearms of 10 recently deceased adult male cadavers were dissected. Dissections were performed in the institution's autopsy room or anatomy laboratory. The short and long heads of the biceps brachii muscle, as well as the BA were identified in all upper upper limbs. The BA received contribution from the short and long heads of the biceps brachii muscle. In 12 upper limbs the BA was wide and thickened and in 8 it was supported by the MN. In 5 upper limbs, the BA was wide but not very thick, and in 3 it was narrow and not very thick. We identified the existence of the FDS muscle arcade in all dissected upper limbs. A fibrous arcade was identified in 4 forearms, a muscular arcade in 14 and a transparent arcade in 2 upper limbs. In all of them, we recorded that the arcade was in contact with the MN. We recorded the humeral and ulnar heads of the PTM in all dissected upper limbs, with the presence of fibrous beams between them along their entire length. The MN was positioned between the humeral and ulnar heads of the PTM in all upper limbs. In eight upper limbs (40 %), we identified that the BA had thickness and contact with the MN with the potential to cause its compression. Compression between the humeral and ulnar heads of the PTM by the fibrous connections has the potential to cause nerve compression in all upper limbs (100 %). We did not identify that the anatomical structure of the FDS arcade had the potential to cause compression in the MN.

El objetivo de este estudio fue analizar la potencial compresión del nervio mediano (NM) causado por la aponeurosis bicipital (AB), las cabezas humeral y cubital del músculo pronador redondo (MPR) y la arcada del músculo flexor superficial de los dedos (MFS). En este análisis se diseccionaron 20 antebrazos de 10 cadáveres masculinos de individuos adultos fallecidos recientemente. Las disecciones se realizaron en la sala de autopsias o en el laboratorio de anatomía de la Institución. En todos los miembros superiores se identificaron las cabezas corta y larga del músculo bíceps braquial, así como la AB. La AB recibió contribución de las cabezas corta y larga del músculo bíceps braquial. En 12 miembros superiores la AB era ancha y engrosada y en 8 estaba sostenida por el NM. En 5 miembros superiores la AB era ancha pero poco gruesa, y en 3 era estrecha y de menor grosor. Identificamos la existencia de la arcada muscular MFS en todos los miembros superiores disecados. Se identificó una arcada fibrosa en 4 antebrazos, una arcada muscular en 14 y una arcada delgada y transparente en 2 miembros superiores. En todos ellos registramos que la arcada estaba en contacto con el NM. Registramos las cabezas humeral y cubital del MPR en todos los miembros superiores disecados, con presencia de haces fibrosos entre ellas en toda su longitud. El NM estaba situado entre las cabezas humeral y cubital del MPR en todos los miembros superiores. En ocho miembros superiores (40 %), identificamos que la AB era gruesa y tenía contacto con el NM con potencial para causar su compresión. La compresión entre las cabezas humeral y ulnar del MPR, por las conexiones fibrosas, tiene el potencial de causar compresión nerviosa en todos los miembros superiores (100 %). No identificamos que la estructura anatómica de la arcada MFS tuviera el potencial de causar compresión del NM.

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Abstract Objective Complex regional pain syndrome (CRPS) requires further understanding. Thus, the present study aimed to analyze if pre- and intraoperative factors may be related to the development of CRPS in the postoperative period. Methods We reviewed 1,183 medical records of patients undergoing forearm and hand surgeries from 2015 to 2021. The data of interest, that is, diagnosis, incisions, synthesis material, and anesthesia, were collected, tabulated, and statistically analyzed, with subsequent calculation of the odds ratios. Results Most patients were female, aged between 30 and 59 years, and sought the service electively (67% of the cases). The diagnoses included soft tissue trauma (43%), bone trauma (31.6%), and compressive syndromes (25.5%). During this period, 45 (3.8%) subjects developed CRPS. The statistical analysis showed that the chance of developing CRPS is twice as high in patients with compressive syndrome, especially carpal tunnel syndrome (CTS), which represented most surgeries performed in our service (24%). Two or more incisions occurred in 7.6% of the cases, which tripled the chance of developing postoperative CRPS. Gender, age, use pf synthetic material, type of anesthesia type did not statistically increase the risk of developing postoperative CRPS. Conclusion In short, the incidence of CRPS is low; however, it is critical to know and recognize the risk factors for prevention and active screening in the postoperative period.

Resumo Objetivo A síndrome da dor regional complexa (SDRC) precisa ser mais bem compreendida. Assim, este estudo objetiva analisar se fatores pré e intraoperatórios poderiam estar relacionados ao desenvolvimento de SDRC no pós-operatório. Métodos Foram revisados 1.183 prontuários de pacientes submetidos a cirurgias no antebraço e na mão entre 2015 e 2021. Os dados de interesse, como diagnóstico, incisões, material de síntese e anestesia realizada, foram coletados, tabulados e submetidos a testes estatísticos com posterior cálculo da razão de chances. Resultados A maioria dos pacientes era do gênero feminino, com idade entre 30 e 59 anos, que buscaram o serviço de forma eletiva (67% dos casos). Os diagnósticos agrupados de forma geral foram: traumas de partes moles (43%), traumas ósseos (31,6%) e síndromes compressivas (25,5%). Durante esse período, 45 pacientes (3,8%) evoluíram com SDRC. A análise estatística mostrou que a chance de desenvolver SDRC é duas vezes maior em pacientes com síndrome compressiva, especialmente a síndrome do túnel do carpo (STC), que representou a maioria dos cirurgias realizadas em nosso serviço (24%). Em 7,6% dos casos, foram realizadas duas ou mais incisões, o que triplicou a possibilidade de SDRC pósoperatória. Gênero, idade, uso de material de síntese, ou tipo de anestesia não aumentaram estatisticamente o risco de SDRC no pós-operatório. Conclusão Em suma, a incidência de SDRC é baixa, mas é importante conhecer e reconhecer os fatores de risco para a prevenção e a busca ativa no pós-operatório.

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The Tityus trinitatis, a black scorpion species endemic to the fauna of Trinidad, has been implicated in envenomation with devastating clinical sequelae such as acute pancreatitis and major adverse cardiovascular events. We present the first in-Caribbean case of a 59-year-old Caribbean South Asian male with human immunodeficiency virus who presented with a non-ST-segment-elevation acute coronary syndrome after being stung, which was managed with comprehensive, guideline-directed medical therapy. The clinician should be cognizant of scorpion-induced acute coronary syndrome (ACS) as a potential sequela of envenomation and its clinical management.

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BACKGROUND: Marfan Syndrome is an autosomal dominant disease caused by pathogenetic variants in the FBN1 gene. The progressive dilatation of the aorta and the potential risk of acute aortic syndromes influence the prognosis of these patients. We aim to describe population characteristics, long-term survival, and re-intervention patterns in patients who underwent aortic surgery with a previously confirmed clinical diagnosis of Marfan Syndrome in a middle-income country. METHODS: A retrospective single-center case series study was conducted. All Marfan Syndrome patients who underwent aortic procedures from 2004 until 2021 were included. Qualitative variables were frequency-presented, while quantitative ones adopted mean ± standard deviation. A subgroup analysis between elective and emergent procedures was conducted. Kaplan-Meier plots depicted cumulative survival and re-intervention-free. Control appointments and government data tracked out-of-hospital mortality. RESULTS: Fifty patients were identified. The mean age was 38.79 ± 14.41 years, with a male-to-female ratio of 2:1. Common comorbidities included aortic valve regurgitation (66%) and hypertension (50%). Aortic aneurysms were observed in 64% without dissection and 36% with dissection. Surgical procedures comprised elective (52%) and emergent cases (48%). The most common surgery performed was the David procedure (64%), and the Bentall procedure (14%). The in-hospital mortality rate was 4%. Complications included stroke (10%), and acute kidney injury (6%). The average follow-up was 8.88 ± 5.78 years. Survival rates at 5, 10, and 15 years were 89%, 73%, and 68%, respectively. Reintervention rates at 1, 2.5, and 5 years were 10%, 14%, and 17%, respectively. The emergent subgroup was younger (37.58 ± 14.49 years), had the largest number of Stanford A aortic dissections, presented hemodynamic instability (41.67%), and had a higher requirement of reinterventions in the first 5 years of follow-up (p = 0.030). CONCLUSION: In our study, surveillance programs played a pivotal role in sustaining high survival rates and identifying re-intervention requirements. However, challenges persist, as 48% of the patients required emergent surgery. Despite not affecting survival rates, a greater requirement for reinterventions was observed, emphasizing the necessity of timely diagnosis. Enhanced educational initiatives for healthcare providers and increased patient involvement in follow-up programs are imperative to address these concerns.

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Objective Complex regional pain syndrome (CRPS) requires further understanding. Thus, the present study aimed to analyze if pre- and intraoperative factors may be related to the development of CRPS in the postoperative period. Methods We reviewed 1,183 medical records of patients undergoing forearm and hand surgeries from 2015 to 2021. The data of interest, that is, diagnosis, incisions, synthesis material, and anesthesia, were collected, tabulated, and statistically analyzed, with subsequent calculation of the odds ratios. Results Most patients were female, aged between 30 and 59 years, and sought the service electively (67% of the cases). The diagnoses included soft tissue trauma (43%), bone trauma (31.6%), and compressive syndromes (25.5%). During this period, 45 (3.8%) subjects developed CRPS. The statistical analysis showed that the chance of developing CRPS is twice as high in patients with compressive syndrome, especially carpal tunnel syndrome (CTS), which represented most surgeries performed in our service (24%). Two or more incisions occurred in 7.6% of the cases, which tripled the chance of developing postoperative CRPS. Gender, age, use pf synthetic material, type of anesthesia type did not statistically increase the risk of developing postoperative CRPS. Conclusion In short, the incidence of CRPS is low; however, it is critical to know and recognize the risk factors for prevention and active screening in the postoperative period.

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The neuropathic compression of the tibial nerve and/or its branches on the medial side of the ankle is called tarsal tunnel syndrome (TTS). Patients with TTS presents pain, paresthesia, hypoesthesia, hyperesthesia, muscle cramps or numbness which affects the sole of the foot, the heel, or both. The clinical diagnosis is challenging because of the fairly non-specific and several symptomatology. We demonstrate a case of TTS caused by medial dislocation of the talar bone on the calcaneus bone impacting the tibial nerve diagnosed only by ultrasound with the patient in the standing position.

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Several studies suggest that crack cocaine users exhibit higher prevalence of both psychiatric and psychosocial problems, with an aggressive pattern of drug use. Nevertheless, few experimental studies attempted to verify the neurotoxicity after crack cocaine exposure, especially when compared with other routes of cocaine administration. This systematic review aimed to verify whether in vitro and/or in vivo crack cocaine exposure is more neurotoxic than cocaine exposure (snorted or injected). A search was performed in the PubMed, EMBASE, Scopus, Web of Science, and LILACS databases for in vitro and in vivo toxicological studies conducted with either rats or mice, with no distinction with regard to sex or age. Other methods including BioRxiv, BDTD, Academic Google, citation searching, and specialist consultation were also adopted. Two independent investigators screened the titles and abstracts of retrieved studies and subsequently performed full-text reading and data extraction. The quality of the included studies was assessed by the Toxicological data Reliability assessment Tool (ToxRTool). The study protocol was registered with the Prospective Registry of Systematic Reviews (PROSPERO; CRD42022332250). Of the twelve studies included, three were in vitro and nine were in vivo studies. According to the ToxRTool, most studies were considered reliable either with or without restrictions, with no one being considered as not reliable. The studies found neuroteratogenic effects, decreased threshold for epileptic seizures, schizophrenic-like symptoms, and cognitive deficits to be associated with crack cocaine exposure. Moreover, both in vitro and in vivo studies reported a worsening in cocaine neurotoxic effect caused by the anhydroecgonine methyl ester (AEME), a cocaine main pyrolysis product, which is in line with the more aggressive pattern of crack cocaine use. This systematic review suggests that crack cocaine exposure is more neurotoxic than other routes of cocaine administration. However, before the scarcity of studies on this topic, further toxicological studies are necessary.

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Carbohydrate reserves play a vital role in plant survival during periods of negative carbon balance. Under a carbon-limited scenario, we expect a trade-offs between carbon allocation to growth, reserves, and defense. A resulting hypothesis is that carbon allocation to reserves exhibits a coordinated variation with functional traits associated with the 'fast-slow' plant economics spectrum. We tested the relationship between non-structural carbohydrates (NSC) of tree organs and functional traits using 61 angiosperm tree species from temperate and tropical forests with phylogenetic hierarchical Bayesian models. Our results provide evidence that NSC concentrations in stems and branches are decoupled from plant functional traits. while those in roots are weakly coupled with plant functional traits. In contrast, we found that variation between NSC concentrations in leaves and the fast-slow trait spectrum was coordinated, as species with higher leaf NSC had trait values associated with resource conservative species, such as lower SLA, leaf N, and leaf P. We also detected a small effect of leaf habit on the variation of NSC concentrations in branches and roots. Efforts to predict the response of ecosystems to global change will need to integrate a suite of plant traits, such as NSC concentrations in woody organs, that are independent of the 'fast-slow' plant economics spectrum and that capture how species respond to a broad range of global change drivers.

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This report outlines the case of a child affected by a type of congenital disorder of glycosylation (CDG) known as ALG2-CDG (OMIM 607906), presenting as a congenital myasthenic syndrome (CMS) caused by variants identified in ALG2, which encodes an α1,3-mannosyltransferase (EC 2.4.1.132) involved in the early steps of N-glycosylation. To date, fourteen cases of ALG2-CDG have been documented worldwide. From birth, the child experienced perinatal asphyxia, muscular weakness, feeding difficulties linked to an absence of the sucking reflex, congenital hip dislocation, and hypotonia. Over time, additional complications emerged, such as inspiratory stridor, gastroesophageal reflux, low intake, recurrent seizures, respiratory infections, an inability to maintain the head upright, and a global developmental delay. Whole genome sequencing (WGS) revealed the presence of two ALG2 variants in compound heterozygosity: a novel variant c.1055_1056delinsTGA p.(Ser352Leufs*3) and a variant of uncertain significance (VUS) c.964C>A p.(Pro322Thr). Additional studies, including determination of carbohydrate-deficient transferrin (CDT) revealed a mild type I CDG pattern and the presence of an abnormal transferrin glycoform containing a linear heptasaccharide consisting of one sialic acid, one galactose, one N-acetyl-glucosamine, two mannoses and two N-acetylglucosamines (NeuAc-Gal-GlcNAc-Man2-GlcNAc2), ALG2-CDG diagnostic biomarker, confirming the pathogenicity of these variants.