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ABSTRACT Mantle cell lymphoma of the ocular and periorbital regions is extremely rare but should be considered in the differential diagnosis of lesions affecting the periorbital tissues. In this study, we present a rare case of mantle cell lymphoma of the lacrimal sac in a 65-year-old male presenting with a mass in the lacrimal sac region and epiphora. After clinical examinations and imaging studies, the mucocele was misdiagnosed. Considering the unexpected findings during external dacryocystorhinostomy, a frozen biopsy was performed, which confirmed the diagnosis of lymphoma.

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ABSTRACT A patient presented with corneoscleral thinning five months after the treatment of suspected ocular squamous surface neoplasia with mitomycin-C and interferon. For tectonic and aesthetic purposes, we decided to perform lamellar corneoscleral transplantation. The approach used established new tectonic support and corneal homeostasis. This technique might be an option in similar cases.

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ABSTRACT Purpose: To describe the epidemiological and clinical profile of hospitalized patients with retinoblastoma in Brazil. Methods: Using data from the Hospital Cancer Registry of the Instituto Nacional de Câncer, patients with the morphological codes of retinoblastoma who were diagnosed between 2000 to 2018, aged 0-19 years, and followed up in registered hospitals (analytical cases) were selected. The relative and absolute frequencies of demographic, clinical, diagnostic, therapeutic, and outcome variables were described. Hospital performance indicators were calculated and compared between hospitals qualified and not qualified to treat pediatric oncology cases and between hospitals with different case volumes (<20, 20-75, >75 cases). Results: Of the 2,269 identified analytical cases from 86 institutions, 48% were from the Southeast, 54% were male, and 66% were aged <4 years. The proportion of missing data (NA) was too high for several variables. Approximately 84% of the patients were from the public health system, 40% had a positive family history, and 88% had unilateral involvement. The first treatment included surgery in 58.3% of the patients (NA=2), Approximately 36.6% of these patients achieved complete remission, 10.8% achieved partial remission, and 12.7% died (NA=59%). Hospital performance indicators were within the target in >90% of the patients. The median time between the first appointment and diagnosis (6 days, interquartile range [IQR] 1-14) was significantly lower and the median time to death was longer (343 days, IQR, 212-539) in high-volume hospitals (>75 cases) than in medium- and low-volume hospitals. Conclusions: Despite the high proportion of missing data, we found that the delay in diagnosis is due to prehospital factors. Additionally, there is a need for educational programs for healthcare professionals and families that emphasize early identification and referral to specialized centers. Future studies should focus on the impact of Hospital Cancer Registry data completeness on outcomes, causes of delay in diagnosis, regional inequalities, and barriers to accessing specialized services.

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Abstract Objective: To provide healthcare professional-friendly practical recommendations for early detection of cleft palate-related deformities in newborns and offer an overview of managing these high-prevalent congenital abnormalities. Source of data: PubMed, SciELO, Lilacs, Cochrane, ScienceDirect, and Scopus databases were reviewed for cleft- and diagnosis-related studies. Summary of the findings: Unfortunately, the global prevalence of delayed detection of cleft palate-related deformities remains unacceptably high, with over a quarter of cleft palates missed at birth. This delayed identification causes physical and psychological distress for patients and families, including feeding challenges and weight faltering. To improve cleft management, it is essential to adopt routine detailed, in-depth intraoral examination immediately after birth. It is recommended not only to finger-assisted palpate the intraoral structures but also to visually inspect the oral cavity from gingiva to uvula using a wooden tongue depressor and light-assisted examination. With timely diagnosis and referral to specialized care, pediatricians, nurses, speech therapists, and plastic surgeons provide life-changing treatments, including health care maintenance, anticipatory guidance, feeding support, primary surgical reconstruction, and age-and condition-specific protocols. Conclusions: Encouraging neonatologists and pediatricians, who are the first to examine new-borns, to actively investigate the intraoral region for cleft palate-related deformities is instrumental in optimizing therapeutic approaches and prioritizing age-phases in treatment. Their crucial role in early detection and referral can lead to transformative outcomes, impacting not only the future of the newborns by facilitating functional integration into society but also yielding positive effects on families and the health system.

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Abstract Objectives: Identify potential barriers, delays, and missed opportunities in the prevention and diagnosis of childhood TB. Methods: Scoping review according to the PRISMA extension. The definitions considered for the selection followed the acronym PCC where the population (P) is children under 18years of age with TB disease, the concept (C) refers to missed opportunities for prevention and diagnosis, and context (C) is defined as a diagnosis of TB disease. The authors searched systematically in the databases; VHL/Lilacs, Medline via PubMed, Cochrane, Scopus, and Web of Science, without date or language limitation. Results: Seven studies were included. In developed countries, with low disease burden, the main shortcoming is the delay in diagnosing bacilliferous adults in contact with young children. This problem is concentrated in the portion of the population with socioeconomic vulnerability. In underdeveloped countries, with a high burden of disease, the biggest challenge is tracking children who come into contact with bacilliferous patients. Conclusions: There are still many missed opportunities in the prevention and diagnosis of childhood TB. The positive legacy of the COVID-19 pandemic should be taken advantage of and the encouragement of scientific development in the management of infectious diseases should be taken.

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Los salmónidos, durante su desarrollo, pueden experimentar ocasionalmente deformaciones esqueléticas. Para su diagnóstico se emplean diversas metodologías, entre las que se incluyen radiografías, técnicas histológicas, diafanización con tinciones de alizarina y azul de alcián, así como el uso del microscopio electrónico de barrido (SEM), cada una con sus inherentes ventajas y desventajas. Este estudio tuvo como finalidad evaluar y comparar la eficacia de la tomografía microcomputarizada (Micro-CT) para el análisis anatómico, reconstruyendo tridimensionalmente las imágenes y contrastándolas con los resultados obtenidos mediante la técnica de diafanización. Se analizaron las aletas caudales de cinco ejemplares de salmón Oncorhynchus kisutch: dos sujetos a diafanización y tres procesados para análisis mediante Micro-CT utilizando el equipo BRUKER SkyScan 1272. La técnica de Micro-CT demostró superioridad en la resolución de las estructuras óseas, facilitando una exploración detallada de las variaciones morfológicas y la distribución de la densidad mineral. Este enfoque permitió identificar anomalías en la morfología y crecimiento de las últimas vértebras y lepidotriquias dorsales, así como una densidad incrementada en lepidotriquias dorsales malformadas. La mayor resolución proporcionada por la Micro-CT no solo potencia nuestra comprensión de la ontogenia piscícola y su adaptación a ambientes diversos, sino que además inaugura perspectivas innovadoras para el estudio de la evolución de las estrategias locomotoras y las respuestas adaptativas frente a cambios ambientales a través del tiempo.

SUMMARY: During their development, some species of salmonids may occasionally experience skeletal deformations. Several methodologies are currently being used for the diagnosis of such malformations, among which X-rays, histological techniques, diaphanization coupled either with Alizarin Red or Alcian Blue stains, as well as Scanning Electron Microscopy (SEM) can be mentioned. Each one of those methods presents inherent advantages and disadvantages. The purpose of this study was twofold: Firstly, to evaluate and compare the effectiveness of microcomputed tomography (Micro-CT) technology for anatomical analysis, three-dimensionally reconstructing the obtained images; and secondly, to contrast those images with the results obtained through the diaphanization technique. The caudal fins of five specimens of the Oncorhynchus kisutch salmon were analyzed: Two specimens were subjected to diaphanization and three were processed for Micro-CT analysis, using the BRUKER SkyScan 1272 equipment. The Micro-CT technology demonstrated superiority in the resolution of bone structures, facilitating a detailed exploration of morphological variations, as well as the distribution of mineral density. This experimental approach allowed us to identify anomalies in the morphology and growth of the last vertebrae and dorsal lepidotrichiae, as well as an increased mineral density in the malformed dorsal lepidotrichiae. The higher resolution provided by Micro-CT not only enhances our understanding of the fish ontogeny and its adaptation to diverse environments, but also opens innovative perspectives for the study of the evolution of locomotor strategies and adaptive responses to environmental changes.

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Objetivo: Identificar y clasificar las diferentes anomalías del desarrollo diagnosticadas en la unidad de ecografía del servicio de medicina materno fetal de la Maternidad Concepción Palacios entre enero y diciembre de 2023. Métodos: Estudio retrospectivo, descriptivo, transversal que incluyó la evaluación de los 4225 reportes de ultrasonido obstétrico realizados en 2023. Se excluyeron los estudios sin diagnóstico morfológico. Las variables evaluadas fueron características clínicas de las gestantes, prevalencia según tipo de anomalía del desarrollo y según el aparato o sistema afectado. Resultados: Se diagnosticaron anomalías del desarrollo en 282 pacientes, para una frecuencia de 6,7 %. Las anomalías fueron únicas en 187 casos (66,3 %) y múltiples en 95 pacientes (33,7 %). El total de malformaciones fue 360 (8,5 %). El mínimo de lesiones detectadas fue una y el máximo fue tres. El sistema afectado con mayor frecuencia fue el sistema nervioso central, con 104 casos (28,9 %); le siguen, en orden de frecuencia, los marcadores aislados, vistos en 92 pacientes (25,6 %) y las anomalías cardiovasculares, en 49 fetos (13,6 %). Conclusión: La frecuencia de malformaciones congénitas diagnosticadas en el año 2023 fue de 6,7 % de las ecografías realizadas en la unidad de ecografía del servicio de medicina materno fetal de la Maternidad Concepción Palacios; en las dos terceras partes de los casos fueron únicas y el tercio restante fueron múltiples. En orden de frecuencia, los sistemas afectados fueron sistema nervioso central, marcadores aislados de aneuploidías y anomalías cardiovasculares(AU)

Objective: To identify and classify the different developmental anomalies diagnosed in the ultrasound unit of the maternal-fetal medicine service of the Concepción Palacios Maternity Hospital between January and December 2023. Methods: Retrospective, descriptive, cross-sectional study that included the evaluation of the 4225 obstetric ultrasound reports performed in 2023. Studies without morphological diagnosis were excluded. The variables evaluated were clinical characteristics of the pregnant women, prevalence according to type of developmental anomaly and according to the affected apparatus or system. Results: Developmental abnormalities were diagnosed in 282 patients, with a frequency of 6.7%. The anomalies were single in 187 cases (66.3%) and multiple in 95 patients (33.7%). The total number of malformations was 360 (8.5%). The minimum number of injuries detected was one and the maximum was three. The most frequently affected system was the central nervous system, with 104 cases (28.9%); This is followed by isolated markers, seen in 92 patients (25.6%), and cardiovascular anomalies, in 49 fetuses (13.6%). Conclusion: The frequency of congenital malformations diagnosed in 2023 was 6.7% of the ultrasound scans performed in the ultrasound unit of the maternal-fetal medicine service of the Concepción Palacios Maternity Hospital; Two-thirds of the cases were singles and the remaining third were multiples. In order of frequency, the affected systems were central nervous system, isolated markers of aneuploidies, and cardiac anomalies(AU)

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Las proteínas de la leche de vaca pueden causar alergia alimentaria. Los distintos mecanismos de acción involucrados y la variabilidad clínica según la etapa de la vida pediátrica en la que se manifieste ocasionan dificultades en su abordaje, con riesgo de sub- o sobrediagnóstico. En este proceso, intervienen profesionales de diversas áreas y es recomendable su interacción. Es por ello que el objetivo de este consenso ha sido reflejar el conocimiento actualizado desde la interdisciplina, generando recomendaciones para su correcto diagnóstico. Hemos trabajado con el método de Delphi para sumarle a la evidencia científica, la experiencia proveniente de neonatólogos, pediatras, especialistas en alergia, nutrición y gastroenterología. Pensamos que este enfoque interdisciplinario de trabajo va a resultar de utilidad práctica y promoverá una atención más integral de estos pacientes.

Cow's milk protein can cause food allergy. The different mechanisms of action involved, the clinical variability depending on the stage of pediatric life in which it manifests, leads to difficulties in its approach, with the risk of under- or over-diagnosis. Professionals from various areas intervene in this process and their interaction is recommended. That is why the objective of this consensus has been to reflect the updated knowledge in an interdisciplinary mode, generating recommendations for its correct diagnosis. We have worked with the Delphi method to add to the scientific evidence, the experience from neonatologists, pediatricians, experts in allergy, nutrition and gastroenterology. We think that this interdisciplinary approach will be of practical use and will promote more comprehensive care for these patients.

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Advances in DNA sequencing technologies, especially next-generation sequencing (NGS), which is the basis for whole-exome sequencing (WES) and whole-genome sequencing (WGS), have profoundly transformed immune-mediated rheumatic disease diagnosis. Recently, substantial cost reductions have facilitated access to these diagnostic tools, expanded the capacity of molecular diagnostics and enabled the pursuit of precision medicine in rheumatology. Understanding the fundamental principles of genetics and diversity in genetic variant classification is a crucial milestone in rheumatology. However, despite the growing availability of DNA sequencing platforms, a significant number of autoinflammatory diseases (AIDs), neuromuscular disorders, hereditary collagen diseases, and monogenic bone diseases remain unsolved, and variants of uncertain significance (VUS) pose a formidable challenge to addressing these unmet needs in the coming decades. This article aims to provide an overview of the clinical indications and interpretation of comprehensive genetic testing in the medical field, addressing the related complexities and implications.

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BACKGROUND: Tuberculosis (TB) infectiousness decreases significantly with only a few days of treatment, but delayed diagnosis often leads to late treatment initiation. We conducted a sequential explanatory mixed methods study to understand the barriers and facilitators to prompt diagnosis among people with TB. METHODS: We enrolled 100 adults who started TB treatment in the Carabayllo district of Lima, Peru, between November 2020 and February 2022 and administered a survey about their symptoms and healthcare encounters. We calculated total diagnostic delay as time from symptom onset to diagnosis. We conducted semi-structured interviews of 26 participants who had a range of delays investigating their experience navigating the health system. Interview transcripts were inductively coded for concepts related to diagnostic barriers and facilitators. RESULTS: Overall, 38% of participants sought care first from public facilities and 42% from the private sector. Only 14% reported being diagnosed with TB on their first visit, and participants visited a median of 3 (interquartile range [IQR] health facilities before diagnosis. The median total diagnostic delay was 9 weeks (interquartile range [IQR] 4-22), with a median of 4 weeks (IQR 0-9) before contact with the health system and of 3 weeks (IQR 0-9) after. Barriers to prompt diagnosis included participants attributing their symptoms to an alternative cause or having misconceptions about TB, and leading them to postpone seeking care. Once connected to care, variations in clinical management, health facility resource limitations, and lack of formal referral processes contributed to the need for multiple healthcare visits before obtaining a diagnosis. Facilitators to prompt diagnosis included knowing someone with TB, supportive friends and family, referral documents, and seeing a pulmonologist. CONCLUSIONS: Misinformation about TB among people with TB and providers, poor accessibility of health services, and the need for multiple encounters to obtain diagnostic tests were major factors leading to delays. Extending the hours of operation of public health facilities, improving community awareness and provider training, and creating a formal referral process between the public and private sectors should be priorities in the efforts to combat TB.

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