Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo.

Purine-rich element-binding protein A (PURα) regulates multiple cellular processes. Rare de novo mutations can lead to PURA syndrome, which manifests as a range of multisystem disturbances, including hypotonia, global developmental delay, swallowing disorders, apnea, seizures, visual impairments, and congenital heart defects. We report the case of a Colombian girl with no relevant medical history who was diagnosed with PURA syndrome at the age of 7, due to a heterozygous mutation located at 5q31.2, specifically the variant c.697_699del (p.Phe233del), in exon 1 of the PURA gene. This represents the first documented case of PURA syndrome in South America and the first association of the syndrome with vitiligo, thereby expanding the known phenotypic spectrum. In addition to enriching the literature concerning the phenotypic diversity of PURA syndrome, this report highlights, for the first time, the diagnostic challenges faced by developing countries like Colombia in diagnosing high-burden rare diseases such as PURA syndrome.

Labile assembly of a tardigrade protein induces biostasis.

Tardigrades are microscopic animals that survive desiccation by inducing biostasis. To survive drying tardigrades rely on intrinsically disordered CAHS proteins, which also function to prevent perturbations induced by drying in vitro and in heterologous systems. CAHS proteins have been shown to form gels both in vitro and in vivo, which has been speculated to be linked to their protective capacity. However, the sequence features and mechanisms underlying gel formation and the necessity of gelation for protection have not been demonstrated. Here we report a mechanism of fibrillization and gelation for CAHS D similar to that of intermediate filament assembly. We show that in vitro, gelation restricts molecular motion, immobilizing and protecting labile material from the harmful effects of drying. In vivo, we observe that CAHS D forms fibrillar networks during osmotic stress. Fibrillar networking of CAHS D improves survival of osmotically shocked cells. We observe two emergent properties associated with fibrillization; (i) prevention of cell volume change and (ii) reduction of metabolic activity during osmotic shock. We find that there is no significant correlation between maintenance of cell volume and survival, while there is a significant correlation between reduced metabolism and survival. Importantly, CAHS D's fibrillar network formation is reversible and metabolic rates return to control levels after CAHS fibers are resolved. This work provides insights into how tardigrades induce reversible biostasis through the self-assembly of labile CAHS gels.

XEN® 45 en el manejo quirúrgico del glaucoma en fases tempranas: estudio nacional de consenso según metodología Delphi / XEN-45 in the management of Early Glaucoma Surgery: A National Delphi Consensus Study

Antecedentes y objetivo: Las recomendaciones sobre el manejo general del glaucoma y el uso de cirugías mínimamente-invasivas y microincisionales en fases tempranas son limitadas. El objetivo de este estudio fue establecer un consenso sobre el manejo del glaucoma, centrándose en el implante XEN 45 (AbbVie Inc., North Chicago, IL, EE. UU.). Métodos: Se utilizó un método Delphi. El comité científico dirigió el estudio, identificó el panel de expertos y participó en la elaboración del cuestionario. Se invitó a 51 expertos a completar, en una escala Likert de 9 puntos, un cuestionario de 89 ítems que cubría 3 bloques temáticos. Se realizaron 2 rondas Delphi. Se logró consenso si≥66,6% de los expertos llegaron a un acuerdo o desacuerdo. Resultados: Los panelistas acordaron 84 ítems relacionados con la calidad de vida, el algoritmo terapéutico y el perfil del paciente, y el manejo quirúrgico pre y postoperatorio. Los panelistas consideraron el implante XEN idóneo para tratar el glaucoma en diferentes etapas y para diferentes perfiles de pacientes: pacientes jóvenes/ancianos/con comorbilidades-significativas, glaucoma-miópico, pacientes con fracaso quirúrgico previo y con postoperatorio complejo. El implante XEN se consideró un paso terapéutico previo a la cirugía filtrante clásica y una posible primera opción quirúrgica en pacientes ancianos con comorbilidades y presión intraocular descontrolada. El implante XEN permite al paciente retomar sus actividades diarias más rápidamente que las cirugías filtrantes convencionales y reducir y/o eliminar los tratamientos tópicos. Conclusiones: Este consenso según la metodología Delphi proporcionó una serie de recomendaciones generales para el tratamiento del glaucoma, incluidas aquellas relacionadas con la calidad de vida del paciente, el algoritmo terapéutico y el perfil del paciente, y específicas con respecto al uso del implante XEN.(AU)

Background and objective: Recommendations on general glaucoma management and the use of early minimally invasive and microincisional surgeries are limited. This study aimed to establish consensus regarding glaucoma management, focusing on the XEN-45 gel stent implant. Methods: A Delphi consensus-driven process was used. The scientific committee led the study, identified the expert panel, and participated in elaborating the questionnaire. Fifty-one panelists were invited to complete, on a nine-point Likert scale, an 89-item questionnaire covering three topic blocks. Two Delphi rounds were performed. Consensus was achieved if ≥66.6% of panelists reached agreement or disagreement. Results: Panelists agreed on 84 items related to the patients’ quality of life, the therapeutic algorithm and patient profile, and surgical and pre- and post-operative management. Panelists agreed on the suitability of XEN stent implants to treat glaucoma at different stages and for different patient profiles: young patients, elderly or with significant comorbidities, and with myopic glaucoma, patients who failed previous surgeries, and with previous poor post-operative experience. XEN surgery was considered a therapeutic step prior to classic filtering surgery and a possible first surgical option in elderly patients with comorbidities and uncontrolled intraocular pressure. XEN surgery allows the patient to return to routine daily activities faster than conventional filtering surgeries and to reduce and/or eliminate topical treatments. Conclusions: This Delphi-driven consensus resulted in a series of general recommendations for glaucoma management, including those related to patient quality of life, therapeutic algorithm, and patient profile, and specific ones regarding the use of XEN stent gel surgery.(AU)

Learning curve of ultrasound-guided surgeon-administered transversus abdominis plane (UGSA-TAP) block on a porcine model.

Background: Surgeons commonly perform ultrasound-guided Transversus Abdominis Plane blocks to manage acute pain following abdominal surgeries. There is no consensus on whether surgeons should undergo basic hands-on training to perform TAP blocks or if video-based learning is sufficient. We theorized that simulation-based learning is superior to video-based learning. In the present study, we present the analysis of technical skills of UGSA-TAP block performance on a live porcine model by general surgery trainees after undergoing video or simulation-based learning. Methods: We performed a prospective, double-blinded, randomized study. Ten surgery residents and two surgery critical-care fellows (n = 12) without prior experience in performing the TAP block were recruited. The participants were randomized either into a video-based or simulation-based training group. After that, all participants performed a TAP block on a live anesthetized pig, which was recorded and scored by three blinded anesthesiologists. All participants completed a post-performance survey to assess their confidence in gaining competency in the UGSA-TAP block. Statistical analyses were performed to assess the differences between the two groups. P < 0.05 was considered statistically significant. Results: All simulation-based learning participants successfully performed a survey scan, identified the three muscular layers of the abdominal wall, and identified the transversus abdominis plane compared to 50 %, 50 %, and 33 % video-based learning group participants for the respective parameters (p < 0.05). While some performance metrics showed no statistically significant differences between the groups, substantial effect sizes (Cohen's ℎ up to 1.07) highlighted notable differences in participants' performance. Both groups exhibited confidence in core competencies, with varied rates of satisfactory skill execution. Performance assessed using a global rating scale revealed a higher passing rate for the simulation group (83 % vs. 33 %). Participant feedback via the Likert scale reflected confidence post-training. Inter-rater reliability (0.83-1) confirmed the robustness of study evaluations. Conclusion: The UGSA-TAP block curriculum should be introduced into the surgical residency programs with an emphasis on simulation-based learning to enhance the procedural skills of the trainees before transitioning to surgical patients.

Sustainable cultivation of melon landraces: Effects of grafting on the accumulation of flavor-related compounds.

Melon landraces are highly appreciated by consumers who pay price premiums to compensate for lower yields, enabling on-farm conservation. However, they are highly susceptible to soilborne diseases. This study analyses the impact of Cucurbita and Cucumis rootstocks on the accumulation of flavor-related metabolites in Spanish landraces of the Ibericus melon group, as a strategy to promote their sustainable cultivation. Scion genotype was the main factor conditioning the accumulation of sugars and acids both under standard and saline organic farming conditions. The effects of grafting on organic acid accumulation were negligible, while the effects on sugar content were significant. The latter effects were dependent on specific scion-rootstock combinations, though wild Cucumis (e.g. Fian) rootstocks represent an alternative that should be further studied. The effect on the accumulation of volatiles was limited, and again depended on specific scion-rootstock combinations. The rootstock effect even differed between populations of the same landrace.

Deroofing: A safe, effective and well-tolerated procedure in patients with hidradenitis suppurativa.

INTRODUCTION: Hidradenitis suppurativa (HS) is a recurrent, debilitating, chronic disorder of the pilosebaceous unit. Although advances in HS treatment have been made, more than 45% of patients remain dissatisfied with systemic treatment, and more than one-third are dissatisfied with surgical procedures. OBJECTIVES: A prospective, observational study on the deroofing procedures in HS with special attention paid to patient satisfaction and complications. METHODS: HS lesions were assessed clinically and by the use of ultrasound. Patients reported outcomes, including pain, itch and satisfaction, were measured at 24 h post-surgery by a numeric rating scale (NRS) ranging from 0 to 10. Additionally, the timeline of objective wound closure reported by patients in (weeks), in addition to the need for any analgesics use, were both evaluated. RESULTS: The mean closure time of the post-deroofing wound was assessed as 4.4 ± 1.9 weeks. A statistically longer time was necessary for complete closure in males than in females (4.9 ± 2.2 weeks and 3.9 ± 1.6 weeks, respectively; p = 0.046). The closure time correlated positively yet weakly with the HS tunnel's width (r = 0.27, p = 0.016) and length (r = 0.228, p = 0.044). Patients assessed mean pain at 24 h post-op as mild with 0.7 ± 1.2 points according to NRS, with no differences between sexes. Similarly, itch in the first 24 h was assessed as mild with 1.8 ± 1.1 points, without differences between sexes. No pain, itch or adverse events were reported after 1 week following deroofing. Moreover, no cases of wound infection were reported. An overall patient satisfaction was assessed as 9.9 ± 0.4 points (range 9-10 points). CONCLUSION: Deroofing is an easy, effective and safe dermatosurgical procedure that does not require surgical experience or operating theatre. It is associated with no complications and very low post-op pain and should be part of holistic HS management.

Toward Precision Medicine in Atopic Dermatitis Using Molecular-Based Approaches / Hacia una medicina de precisión en la Dermatitis Atópica mediante el uso de enfoques moleculares

Atopic dermatitis is the most common chronic inflammatory skin disorder, affecting up to 20% of children and 10% of adults in developed countries. The pathophysiology of atopic dermatitis is complex and involves a strong genetic predisposition and T-cell driven inflammation. Although our understanding of the pathology and drivers of this disease has improved in recent years, there are still knowledge gaps in the immune pathways involved. Therefore, advances in new omics technologies in atopic dermatitis will play a key role in understanding the pathogenesis of this burden disease and could develop preventive strategies and personalized treatment strategies. In this review, we discuss the latest developments in genetics, transcriptomics, epigenomics, proteomics, and metagenomics and understand how integrating multiple omics datasets will identify potential biomarkers and uncover nets of associations between several molecular levels (AU)

La dermatitis atópica es el trastorno inflamatorio de la piel crónico más común. Afecta hasta a 20% de los niños y a 10% de los adultos en países desarrollados. La fisiopatología de la dermatitis atópica es compleja e implica una fuerte predisposición genética e inflamación impulsada por células T. Aunque nuestra comprensión de la patología y las causas de esta enfermedad ha mejorado en los últimos años, aún existen lagunas de conocimiento en las vías inmunológicas involucradas. En consecuencia, los avances en nuevas tecnologías ómicas en la dermatitis atópica desempeñarán un papel clave en la comprensión de la patogénesis de esta enfermedad y podrían desarrollar estrategias preventivas y tratamientos personalizados. En esta revisión se discuten los últimos avances en genética, transcriptómica, epigenómica, proteómica y metagenómica, y entendemos cómo la integración de múltiples conjuntos de datos ómicos identificará posibles biomarcadores y descubrirá redes de asociaciones entre varios niveles moleculares (AU)

[Artículo traducido] Hacia una medicina de precisión en la dermatitis atópica mediante el uso de enfoques moleculares / Toward Precision Medicine in Atopic Dermatitis Using Molecular-Based Approaches

La dermatitis atópica es el trastorno inflamatorio de la piel crónico más común. Afecta hasta a 20% de los niños y a 10% de los adultos en países desarrollados. La fisiopatología de la dermatitis atópica es compleja e implica una fuerte predisposición genética e inflamación impulsada por células T. Aunque nuestra comprensión de la patología y las causas de esta enfermedad ha mejorado en los últimos años, aún existen lagunas de conocimiento en las vías inmunológicas involucradas. En consecuencia, los avances en nuevas tecnologías ómicas en la dermatitis atópica desempeñarán un papel clave en la comprensión de la patogénesis de esta enfermedad y podrían desarrollar estrategias preventivas y tratamientos personalizados. En esta revisión se discuten los últimos avances en genética, transcriptómica, epigenómica, proteómica y metagenómica, y entendemos cómo la integración de múltiples conjuntos de datos ómicos identificará posibles biomarcadores y descubrirá redes de asociaciones entre varios niveles moleculares (AU)

Atopic dermatitis is the most common chronic inflammatory skin disorder, affecting up to 20% of children and 10% of adults in developed countries. The pathophysiology of atopic dermatitis is complex and involves a strong genetic predisposition and T-cell driven inflammation. Although our understanding of the pathology and drivers of this disease has improved in recent years, there are still knowledge gaps in the immune pathways involved. Therefore, advances in new omics technologies in atopic dermatitis will play a key role in understanding the pathogenesis of this burden disease and could develop preventive strategies and personalized treatment strategies. In this review, we discuss the latest developments in genetics, transcriptomics, epigenomics, proteomics, and metagenomics and understand how integrating multiple omics datasets will identify potential biomarkers and uncover nets of associations between several molecular levels (AU)

Tratamiento del quiste tirogloso mediante técnica de Koempel. Experiencia inicial / Treatment of thyroglossal cyst using Koempel’s technique: initial experience

Introducción: La intervención de Sistrunk es el gold-standard en el tratamiento del quiste tirogloso pese a su imprecisión en cuanto a la disección suprahioidea. Tras su descripción en 2014, las modificaciones introducidas por Koempel, han permitido un abordaje suprahioideo más reproducible. Presentamos nuestra experiencia inicial con esta técnica. Métodos: Estudio retrospectivo de los pacientes con quiste tirogloso intervenidos mediante técnica de Koempel en nuestro centro en el periodo 2021-2022, recogiéndose datos demográficos, clínicos e histológicos. Resultados. Durante el periodo de estudio se intervinieron 5 pacientes (3 mujeres/2 varones), con una mediana de edad y peso de 5 años (2-6) y 16 kg (14-25) respectivamente. Todos los casos habían sufrido infecciones previas presentando fistulización cutánea el 60%. En 2 de los pacientes se indicó la cirugía por recidiva tras intervención de Sistrunk. La mediana del tiempo quirúrgico fue de 77minutos (57-110) identificándose el plano del músculo geniogloso en los 5 pacientes. No hubo complicaciones inmediatas y el diagnóstico de quiste tirogloso se confirmó histológicamente en todos los casos. Uno de los pacientes del grupo con recidiva previa, presentó recidiva tras la intervención, siendo esta subclínica y diagnosticada incidentalmente tras ecografía de control. El resto de los pacientes no presentó ninguna recurrencia tras un seguimiento mediana de 8 meses (1-12). Conclusiones: La técnica de Koempel permite un abordaje seguro y reproducible del segmento suprahioideo siendo una opción atractiva en casos complicados por infección o recidiva previa.(AU)

Introduction: In spite of being inaccurate in terms of suprahyoid dissection, Sistrunk’s procedure is the gold-standard technique in the treatment of thyroglossal cyst. Since it was first described in 2014, the modifications introduced by Koempel have allowed for a more reproducible suprahyoid approach. We present our initial experience with this technique.Methods: A retrospective study of patients with thyroglossal cyst undergoing Koempel’s technique in our institution from 2021 to 2022 was carried out. Demographic, clinical, and histological data was collected. Results. In the study period, 5 patients –3 girls and 2 boys– underwent surgery. Median age and weight were 5 years (2-6) and 16 kg (14-25), respectively. All patients had suffered from previous infections, with 60% having cutaneous fistulization. In 2 patients, surgery was indicated following Sistrunk’s procedure as a result of recurrence. Median operating time was 77 minutes (57-110), with the genioglossal muscle plane being identified in the 5 patients. No immediate complications were recorded, and diagnosis of thyroglossal cyst was histologically confirmed in all cases. One of the formerly recurrent patients had recurrence following surgery, but it was subclinical and incidentally diagnosed at control ultrasonography. The remaining patients had no recurrences after a median 8-month (1-12) follow-up period. Conclusions: Koempel’s technique allows for a safe and reproducible approach of the suprahyoid segment. It is an attractive option in complicated cases as a result of previous infection or recurrence.(AU)

XEN-45 in the management of early glaucoma surgery: A national Delphi consensus study.

BACKGROUND AND OBJECTIVE: Recommendations on general glaucoma management and the use of early minimally invasive and microincisional surgeries are limited. This study aimed to establish consensus regarding glaucoma management, focusing on the XEN-45 gel stent implant. METHODS: A Delphi consensus-driven process was used. The scientific committee led the study, identified the expert panel, and participated in elaborating the questionnaire. Fifty-one panelists were invited to complete, on a nine-point Likert scale, an 89-item questionnaire covering three topic blocks. Two Delphi rounds were performed. Consensus was achieved if ≥66.6% of panelists reached agreement or disagreement. RESULTS: Panelists agreed on 84 items related to the patients' quality of life, the therapeutic algorithm and patient profile, and surgical and pre- and post-operative management. Panelists agreed on the suitability of XEN stent implants to treat glaucoma at different stages and for different patient profiles: young patients, elderly or with significant comorbidities, and with myopic glaucoma, patients who failed previous surgeries, and with previous poor post-operative experience. XEN surgery was considered a therapeutic step prior to classic filtering surgery and a possible first surgical option in elderly patients with comorbidities and uncontrolled intraocular pressure. XEN surgery allows the patient to return to routine daily activities faster than conventional filtering surgeries and to reduce and/or eliminate topical treatments. CONCLUSIONS: This Delphi-driven consensus resulted in a series of general recommendations for glaucoma management, including those related to patient quality of life, therapeutic algorithm, and patient profile, and specific ones regarding the use of XEN stent gel surgery.

Treatment of thyroglossal cyst using Koempel's technique: initial experience. / Tratamiento del quiste tirogloso mediante técnica de Koempel. Experiencia inicial.

INTRODUCTION: In spite of being inaccurate in terms of suprahyoid dissection, Sistrunk's procedure is the gold-standard technique in the treatment of thyroglossal cyst. Since it was first described in 2014, the modifications introduced by Koempel have allowed for a more reproducible suprahyoid approach. We present our initial experience with this technique. METHODS: A retrospective study of patients with thyroglossal cyst undergoing Koempel's technique in our institution from 2021 to 2022 was carried out. Demographic, clinical, and histological data was collected. RESULTS: In the study period, 5 patients -3 girls and 2 boys- underwent surgery. Median age and weight were 5 years (2-6) and 16 kg (14-25), respectively. All patients had suffered from previous infections, with 60% having cutaneous fistulization. In 2 patients, surgery was indicated following Sistrunk's procedure as a result of recurrence. Median operating time was 77 minutes (57-110), with the genioglossal muscle plane being identified in the 5 patients. No immediate complications were recorded, and diagnosis of thyroglossal cyst was histologically confirmed in all cases. One of the formerly recurrent patients had recurrence following surgery, but it was subclinical and incidentally diagnosed at control ultrasonography. The remaining patients had no recurrences after a median 8-month (1-12) follow-up period. CONCLUSIONS: Koempel's technique allows for a safe and reproducible approach of the suprahyoid segment. It is an attractive option in complicated cases as a result of previous infection or recurrence.

INTRODUCCION: La intervención de Sistrunk es el gold-standard en el tratamiento del quiste tirogloso pese a su imprecisión en cuanto a la disección suprahioidea. Tras su descripción en 2014, las modificaciones introducidas por Koempel, han permitido un abordaje suprahioideo más reproducible. Presentamos nuestra experiencia inicial con esta técnica. METODOS: Estudio retrospectivo de los pacientes con quiste tirogloso intervenidos mediante técnica de Koempel en nuestro centro en el periodo 2021-2022, recogiéndose datos demográficos, clínicos e histológicos. RESULTADOS: Durante el periodo de estudio se intervinieron 5 pacientes (3 mujeres/2 varones), con una mediana de edad y peso de 5 años (2-6) y 16 kg (14-25) respectivamente. Todos los casos habían sufrido infecciones previas presentando fistulización cutánea el 60%. En 2 de los pacientes se indicó la cirugía por recidiva tras intervención de Sistrunk. La mediana del tiempo quirúrgico fue de 77minutos (57-110) identificándose el plano del músculo geniogloso en los 5 pacientes. No hubo complicaciones inmediatas y el diagnóstico de quiste tirogloso se confirmó histológicamente en todos los casos. Uno de los pacientes del grupo con recidiva previa, presentó recidiva tras la intervención, siendo esta subclínica y diagnosticada incidentalmente tras ecografía de control. El resto de los pacientes no presentó ninguna recurrencia tras un seguimiento mediana de 8 meses (1-12). CONCLUSIONES: La técnica de Koempel permite un abordaje seguro y reproducible del segmento suprahioideo siendo una opción atractiva en casos complicados por infección o recidiva previa.

Influence of sex on chronic steroid-induced glaucoma: 24-Weeks follow-up study in rats.

The objective was to evaluate ocular changes based on sex in steroid-induced glaucoma models in rats comparing healthy controls, over 24 weeks follow-up. Eighty-nine Long-Evans rats (38 males and 51 females) with steroid-induced glaucoma were analysed. Two steroid-induced glaucoma models were generated by injecting poly-co-lactic-glycolic acid microspheres loaded with dexamethasone (MMDEX model) and dexamethasone-fibronectin (MMDEXAFIBRO model) into the ocular anterior chamber. Intraocular pressure was measured by rebound tonometer Tonolab®. Neuroretinal function was analysed using dark- and light-adapted electroretinography (Roland consult® RETIanimal ERG), and structure was analysed using optical coherence tomography (OCT Spectralis, Heidelberg® Engineering) using Retina Posterior Pole, Retinal Nerve Fibre Layer and Ganglion Cell Layer protocols over 24 weeks. Males showed statistically (p < 0.05) higher intraocular pressure measurements. In both sexes and models neuroretinal thickness tended to decrease over time. In the MMDEX model, males showed higher IOP values and greatest percentage thickness loss in the Ganglion Cell Layer (p = 0.015). Females receiving MMDEXAFIBRO experienced large fluctuations in thickness, a higher percentage loss (on average) in Retina Posterior Pole (p = 0.035), Retinal Nerve Fibre Layer and Ganglion Cell Layer than aged-matched males, and the highest thickness loss rate by mmHg. Although no difference was found by sex in dark- and light-adapted electroretinography, increased amplitude in photopic negative response was found in MMDEX males and MMDEXAFIBRO females at 12 weeks. Although both glaucoma models used dexamethasone, different intraocular pressure and neuroretinal changes were observed depending on sex and other influential cofactors (fibronectin). Both sex and the induced glaucoma model influenced neuroretinal degeneration.

Toward Precision Medicine in Atopic Dermatitis Using Molecular-Based Approaches. / [Artículo traducido] Hacia una medicina de precisión en la dermatitis atópica mediante el uso de enfoques moleculares.

Atopic dermatitis is the most common chronic inflammatory skin disorder, affecting up to 20% of children and 10% of adults in developed countries. The pathophysiology of atopic dermatitis is complex and involves a strong genetic predisposition and T-cell driven inflammation. Although our understanding of the pathology and drivers of this disease has improved in recent years, there are still knowledge gaps in the immune pathways involved. Therefore, advances in new omics technologies in atopic dermatitis will play a key role in understanding the pathogenesis of this burden disease and could develop preventive strategies and personalized treatment strategies. In this review, we discuss the latest developments in genetics, transcriptomics, epigenomics, proteomics, and metagenomics and understand how integrating multiple omics datasets will identify potential biomarkers and uncover nets of associations between several molecular levels.

Toward Precision Medicine in Atopic Dermatitis Using Molecular-Based Approaches.

Atopic dermatitis is the most common chronic inflammatory skin disorder, affecting up to 20% of children and 10% of adults in developed countries. The pathophysiology of atopic dermatitis is complex and involves a strong genetic predisposition and T-cell driven inflammation. Although our understanding of the pathology and drivers of this disease has improved in recent years, there are still knowledge gaps in the immune pathways involved. Therefore, advances in new omics technologies in atopic dermatitis will play a key role in understanding the pathogenesis of this burden disease and could develop preventive strategies and personalized treatment strategies. In this review, we discuss the latest developments in genetics, transcriptomics, epigenomics, proteomics, and metagenomics and understand how integrating multiple omics datasets will identify potential biomarkers and uncover nets of associations between several molecular levels.

[Ribbing disease: apropos of a case]. / Enfermedad de Ribbing: a propósito de un caso.

Ribbing's disease is a rare form of sclerosing bone dysplasia characterized by exuberant yet benign endosteal bone, and periosteum formation in the diaphysis of long bones. Diagnosis relies on exclusionary criteria, as the primary clinical manifestations entail progressive pain unresponsive to analgesic therapy, accompanied by serological markers within normal ranges. Pain management constitutes the cornerstone of treatment, with surgery appearing to offer the most efficacious approach, despite the absence of a standardized therapeutic algorithm. The diagnostic and therapeutic delays associated with Ribbing's disease, reaching up to 16 years, exert a profound impact on patients' quality of life. Hence, the purpose of our work is to present a case report of Ribbing's disease and conduct a comprehensive literature review on the subject matter.

La enfermedad de Ribbing es una forma rara de displasia ósea esclerosante caracterizada por una formación exuberante, aunque benigna, de hueso endóstico y periostio en la diáfisis de los huesos largos. El diagnóstico se basa en criterios de exclusión, ya que las manifestaciones clínicas principales implican dolor progresivo que no responde a analgésicos, acompañado de marcadores serológicos normales. El manejo del dolor constituye la piedra angular del tratamiento y la cirugía parece ofrecer el enfoque más efectivo, a pesar de no contar con un algoritmo terapéutico estandarizado. Los retrasos diagnósticos y terapéuticos asociados con la enfermedad de Ribbing, que pueden alcanzar hasta 16 años, impactan profundamente en la calidad de vida de los pacientes. Por lo tanto, el propósito de nuestro trabajo es presentar un reporte de caso de la enfermedad de Ribbing y realizar una revisión bibliográfica exhaustiva sobre el tema.

Early detection of Parkinson's disease: Systematic analysis of the influence of the eyes on quantitative biomarkers in resting state electroencephalography.

While resting state electroencephalography (EEG) provides relevant information on pathological changes in Parkinson's disease, most studies focus on the eyes-closed EEG biomarkers. Recent evidence has shown that both eyes-open EEG and reactivity to eyes-opening can also differentiate Parkinson's disease from healthy aging, but no consensus has been reached on a discriminatory capability benchmark. The aim of this study was to determine the resting-state EEG biomarkers suitable for real-time application that can differentiate Parkinson's patients from healthy subjects under both eyes closed and open. For this, we analysed and compared the quantitative EEG analyses of 13 early-stage cognitively normal Parkinson's patients with an age and sex-matched healthy group. We found that Parkinson's disease exhibited abnormal excessive theta activity in eyes-closed, which was reflected by a significantly higher relative theta power, a higher time percentage with a frequency peak in the theta band and a reduced alpha/theta ratio, while Parkinson's patients showed a significantly steeper non-oscillatory spectral slope activity than that of healthy subjects. We also found considerably less alpha and beta reactivity to eyes-opening in Parkinson's disease plus a significant moderate correlation between these EEG-biomarkers and the MDS-UPDRS score, used to assesses the clinical symptoms of Parkinson's Disease. Both EEG recordings with the eyes open and reactivity to eyes-opening provided additional information to the eyes-closed condition. We thus strongly recommend that both eyes open and closed be used in clinical practice recording protocols to promote EEG as a complementary non-invasive screening method for the early detection of Parkinson's disease, which would allow clinicians to design patient-oriented treatment and improve the patient's quality of life.

Urgent laparoscopic cholecystectomy as a result of acute calculous cholecystitis in Pediatrics. / Colecistectomía laparoscópica urgente por colecistitis aguda litiásica en Pediatría.

INTRODUCTION: In spite of the increase in the prevalence of cholelithiasis in the last decades, no recommendations regarding the best treatment of acute calculous cholecystitis (AC) in Pediatrics have been developed. CLINICAL CASE: 4-year-old, 20kg male patient with no significant history referred to our institution as a result of abdominal sepsis. The blood count showed leukocytosis, with normal hemoglobin and bilirubin levels, and a normal liver function. The abdominal ultrasonography revealed cholelithiasis, gallbladder hydrops, and an inflammatory process compatible with appendicular plastron. In the diagnostic laparoscopy, the appendix was macroscopically normal, and acute cholecystitis was observed. Given the patient's situation, and in cooperation with the General Surgery Department, laparoscopic cholecystectomy was carried out. The patient recovered uneventfully on hospitalization day 5 under piperacillin-tazobactam treatment. DISCUSSION: There are no recommendations regarding AC treatment in children. In septic patients, cooperation between general and pediatric surgeons allows urgent cholecystectomy to be considered as a safe option.

INTRODUCCION: Pese al aumento en la prevalencia de colelitiasis durante las últimas décadas, no se han desarrollado recomendaciones sobre el mejor tratamiento de la colecistitis aguda litiásica (CA) en Pediatría. CASO CLINICO: Paciente varón de 4 años y 20 kg de peso sin antecedentes de interés, que acude derivado por sepsis de origen abdominal. Analíticamente destaca leucocitosis con hemoglobina, función hepática y bilirrubina normales. La ecografía abdominal muestra colelitiasis, hidrops vesicular y proceso inflamatorio compatible con plastrón apendicular. En laparoscopia diagnóstica se observa apéndice macroscópicamente normal y colecistitis aguda. Ante la situación del paciente se realiza, conjuntamente con Cirugía General, colecistectomía laparoscópica. El paciente se recupera sin incidencias tras 5 días de ingreso bajo cobertura con piperacilina-tazobactam. COMENTARIOS: No existen recomendaciones sobre el tratamiento de la CA en niños. En los pacientes sépticos, la colaboración entre cirujanos pediátricos y cirujanos generales permite contemplar la colecistectomía urgente como una opción segura.

Colecistectomía laparoscópica urgente por colecistitis aguda litiásica en Pediatría / Urgent laparoscopic cholecystectomy as a result of acute calculous cholecystitis in pediatrics

Introducción: Pese al aumento en la prevalencia de colelitiasisdurante las últimas décadas, no se han desarrollado recomendacionessobre el mejor tratamiento de la colecistitis aguda litiásica (CA) enPediatría. Caso clínico: Paciente varón de 4 años y 20 kg de peso sin antecedentes de interés, que acude derivado por sepsis de origen abdominal. Analíticamente destaca leucocitosis con hemoglobina, función hepáticay bilirrubina normales. La ecografía abdominal muestra colelitiasis, hidrops vesicular y proceso inflamatorio compatible con plastrón apendicular. En laparoscopia diagnóstica se observa apéndice macroscópicamentenormal y colecistitis aguda. Ante la situación del paciente se realiza,conjuntamente con Cirugía General, colecistectomía laparoscópica. Elpaciente se recupera sin incidencias tras 5 días de ingreso bajo coberturacon piperacilina-tazobactam. Comentarios: No existen recomendaciones sobre el tratamiento dela CA en niños. En los pacientes sépticos, la colaboración entre cirujanospediátricos y cirujanos generales permite contemplar la colecistectomíaurgente como una opción segura.(AU)

Introduction: In spite of the increase in the prevalence of cholelithiasis in the last decades, no recommendations regarding the best treatmentof acute calculous cholecystitis (AC) in pediatrics have been developed. Clinical case: 4-year-old, 20kg male patient with no significanthistory referred to our institution as a result of abdominal sepsis. Theblood count showed leukocytosis, with normal hemoglobin and bilirubinlevels, and a normal liver function. The abdominal ultrasonography revealed cholelithiasis, gallbladder hydrops, and an inflammatory processcompatible with appendicular plastron. In the diagnostic laparoscopy,the appendix was macroscopically normal, and acute cholecystitis wasobserved. Given the patient’s situation, and in cooperation with theGeneral Surgery Department, laparoscopic cholecystectomy was carriedout. The patient recovered uneventfully on hospitalization day 5 underpiperacillin-tazobactam treatment. Discussion: There are no recommendations regarding AC treatmentin children. In septic patients, cooperation between general and pediatricsurgeons allows urgent cholecystectomy to be considered as a safe option.(AU)