Long-term remission of infantile Takayasu arteritis associated with germline CBL syndrome after allogeneic hematopoietic stem cell transplantation: A case report and literature review.

Takayasu arteritis (TA) is a large-vessel vasculitis that rarely presents in infancy. Casitas B-lineage lymphoma (CBL) syndrome is a rare genetic disorder due to heterozygous CBL gene germline pathogenic variants that is characterized by a predisposition to develop juvenile myelomonocytic leukemia (JMML). Vasculitis, including TA, has been reported in several patients. Herein, we describe a patient with CBL syndrome, JMML, and TA, developing long-term remission of this vasculitis after allogeneic hematopoietic stem cell transplant (HSCT), and perform a literature review of CBL syndrome with vasculitis or vasculopathy. We report a female patient with growth delay, developmental issues, and congenital heart disease who was admitted at 14 months of age with massive splenomegaly, lymphadenopathy, fever, and hypertension. Body imaging studies revealed arterial stenosis and wall inflammation of the aorta and multiple thoracic and abdominal branches. Whole exome sequencing revealed a pathogenic variant in CBL with loss of heterozygosity in blood cells, diagnosing CBL syndrome, complicated by JMML and TA. Allogeneic HSCT induced remission of JMML and TA, permitting discontinuation of immunosuppression after 12 months. Six years later, her TA is in complete remission off therapy. A literature review identified 18 additional cases of CBL syndrome with vasculitis or vasculopathy. The pathogenesis of vasculitis in CBL syndrome appears to involve dysregulated T cell function and possibly increased angiogenesis. This case advances the understanding of vascular involvement in CBL syndrome and of the genetic, immune, and vascular interplay in TA, offering insights for treating CBL syndrome and broader TA.

Gentamicincoated tibial nail is an effective prevention method for fracture-related infections in open tibial fractures.

Fracture-related infection (FRI) is a common complication following open tibia fracture (OTF), especially in patients with high-energy trauma or comorbidities. The use of gentamicin-coated nail (GCN) has been proposed as a local adjuvant to prevent FRI in high-risk patients. HYPOTHESIS: The incidence of FRI is expected to be lower in OTF treated with a GCN, alongside with no detrimental effects on fracture healing time. OBJECTIVES: This study aimed to evaluate the effectiveness of GCNs as a definitive fixation method and prophylaxis for FRI in OTFs. Secondary outcomes included non-union rates and time to healing. METHODS: The study design was a mixed cohort, including a prospective group of patients treated with GCN (Expert Tibial Nail PROtect™, Depuy Synthes, Johnson&Johnson Company Inc, New Jersey, USA) and a retrospectively evaluated group treated with non-gentamicin-coated nail (NGCN). Patients with at least 12 months of follow-up were included. The treatment protocol consisted of timely administration of antibiotics, surgical debridement, and early soft-tissue coverage. Exclusion criteria included protocol infringement, traumatic amputation, and loss of follow-up. Statistical analysis was performed using Stata v14.0, with a significance level of p < 0.05. RESULTS: The study included 243 patients, 104 in GCN group and 139 NGCN group. External Fixator use was higher in the NGCN group, but this did not significantly affect the FRI rate. GCN use was associated with a significantly lower incidence of FRI (2.88% GCN group vs. 15.83% NGCN group, OR 0.16, p < 0.01). Furthermore, GCN use was found to be a protective factor against tibial non-union (OR 0.41, p = 0.03). There were no adverse effects attributed to locally administered gentamycin. The NGCN cohort had a higher incidence of polytrauma, although the difference was not statistically significant. A longer time to heal as well as more FRI and Non-union according to the progression in Gustilo-Anderson classification was observed in the GCN group. CONCLUSION: Our findings suggest that GCN is an effective prophylactic method to reduce the risk of FRI in open tibial fractures at 12-month follow-up, as well as, probably derived from this protective effect, leading to lower fracture consolidation times when compared with cases treated without GCN.

Dataset of fundus images for the diagnosis of ocular toxoplasmosis.

Toxoplasmosis chorioretinitis is commonly diagnosed by an ophthalmologist through the evaluation of the fundus images of a patient. Early detection of these lesions may help to prevent blindness. In this article we present a data set of fundus images labeled into three categories: healthy eye, inactive and active chorioretinitis. The dataset was developed by three ophthalmologists with expertise in toxoplasmosis detection using fundus images. The dataset will be of great use to researchers working on ophthalmic image analysis using artificial intelligence techniques for the automatic detection of toxoplasmosis chorioretinitis.

A Trust-Based Methodology to Evaluate Deep Learning Models for Automatic Diagnosis of Ocular Toxoplasmosis from Fundus Images.

In the automatic diagnosis of ocular toxoplasmosis (OT), Deep Learning (DL) has arisen as a powerful and promising approach for diagnosis. However, despite the good performance of the models, decision rules should be interpretable to elicit trust from the medical community. Therefore, the development of an evaluation methodology to assess DL models based on interpretability methods is a challenging task that is necessary to extend the use of AI among clinicians. In this work, we propose a novel methodology to quantify the similarity between the decision rules used by a DL model and an ophthalmologist, based on the assumption that doctors are more likely to trust a prediction that was based on decision rules they can understand. Given an eye fundus image with OT, the proposed methodology compares the segmentation mask of OT lesions labeled by an ophthalmologist with the attribution matrix produced by interpretability methods. Furthermore, an open dataset that includes the eye fundus images and the segmentation masks is shared with the community. The proposal was tested on three different DL architectures. The results suggest that complex models tend to perform worse in terms of likelihood to be trusted while achieving better results in sensitivity and specificity.

Automatic Diagnosis of Ocular Toxoplasmosis from Fundus Images with Residual Neural Networks.

Ocular toxoplasmosis (OT) is commonly diagnosed through the analysis of fundus images of the eye by a specialist. Despite Deep Learning being widely used to process and recognize pathologies in medical images, the diagnosis of ocular toxoplasmosis(OT) has not yet received much attention. A predictive computational model is a valuable time-saving option if used as a support tool for the diagnosis of OT. It could also help diagnose atypical cases, being particularly useful for ophthalmologists who have less experience. In this work, we propose the use of a deep learning model to perform automatic diagnosis of ocular toxoplasmosis from images of the eye fundus. A pretrained residual neural network is fine-tuned on a dataset of samples collected at the medical center of Hospital de Clínicas in Asunción, Paraguay. With sensitivity and specificity rates equal to 94% and 93%,respectively, the results show that the proposed model is highly promising. In order to replicate the results and advance further in this area of research, an open data set of images of the eye fundus labeled by ophthalmologists is made available.

Queilitis granulomatosa, a propósito de dos casos / Granulomatous cheilitis, regarding two cases

La queilitis granulomatosa es una entidad granulomatosa no infecciosa, poco frecuente, que se presenta como un aumento de volumen persistente de la región orofacial. El estudio histológico, junto con la exclusión de otras patologías granulomatosas son necesarios para su diagnóstico, especialmente cuando no se presenta con la triada clásica del Síndrome de Merkelsson Rosenthal. Presentamos dos casos de queilitis granulomatosa y una revisión de la literatura disponible.

Granulomatous cheilitis is a rare, non-infectious, granulomatous entity that presents as a persistent swelling of the orofacial region. Histological study together with the exclusion of other granulomatous diseases are necessary for the diagnosis, especially when the presentation is not the classic triad of Merkelsson Rosenthal Syndrome. We present two cases of granulomatous cheilitis and a review of the available literature.

Experimental evidence of charged domain walls in lead-free ferroelectric ceramics: light-driven nanodomain switching.

The control of ferroelectric domain walls at the nanometric level leads to novel interfacial properties and functionalities. In particular, the comprehension of charged domain walls, CDWs, lies at the frontier of future nanoelectronic research. Whereas many of the effects have been demonstrated for ideal archetypes, such as single crystals, and/or thin films, a similar control of CDWs on polycrystalline ferroelectrics has not been achieved. Here, we unambiguously show the presence of charged domain walls on a lead-free (K,Na)NbO3 polycrystalline system. The appearance of CDWs is observed in situ by confocal Raman microscopy and second harmonic generation microscopy. CDWs produce an internal strain gradient within each domain. Specifically, the anisotropic strain develops a crucial piece in the ferroelectric domain switching due to the coupling between the polarization of light and the ferroelectric polarization of the nanodomain in the (K,Na)NbO3 ceramic. This effect leads to the tuning of the ferroelectric domain switching by means of the light polarization angle. Our results will help to understand the relevance of charged domain walls on the ferroelectric domain switching process and may facilitate the development of domain wall nanoelectronics by remote light control utilizing polycrystalline ferroelectrics.

Multidimensional Ultrasound and Computed Tomography Imaging Support in Bleeding Plexiform Neurofibromatosis of the Scalp: A Case Report and Literature Review.

Active bleeding in plexiform neurofibromatosis can be a life-threatening complication in neurofibromatosis type 1 (NF1). The prompt imaging support of 2D-3D ultrasound (US) and computed tomography (CT) during the active hemorrhage phase of cutaneous neurofibromas has not been previously reported. We report a case with NF1 who experienced a sudden swelling in the parieto-temporal region that corresponded to a massive and active hemorrhage within a plexiform neurofibroma. The US and CT imaging characteristics of this bleeding tumor are shown. Active hemorrhage in a plexiform neurofibroma of the scalp appeared in US as a heterogeneous hypodermal mass. CT demonstrated a fully hyperdense soft tissue mass. These characteristics differ from the non-complicated or old hemorrhagic imaging appearances of scalp plexiform neurofibromas and encourage prompt surgical treatment. This case report demonstrates the usefulness of imaging support in the early diagnosis of this hemorrhagic complication of NF1 in the scalp and also stimulates multispecialty management.

Cardiovascular magnetic resonance findings in a pediatric population with isolated left ventricular non-compaction.

BACKGROUND: Isolated left ventricular non-compaction (LVNC) is an uncommon disorder characterized by the presence of increased trabeculations and deep intertrabecular recesses. In adults, it has been found that ejection fraction (EF) decreases significantly as non-compaction severity increases. In children however, there are a few data describing the relation between anatomical characteristics of LVNC and ventricular function. We aimed to find correlations between morphological features and ventricular performance in children and young adolescents with LVNC using cardiovascular magnetic resonance (CMR). METHODS: 15 children with LVNC (10 males, mean age 9.7 y.o., range 0.6-17 y.o.), underwent a CMR scan. Different morphological measures such as the compacted myocardial mass (CMM), non-compaction (NC) to the compaction (C) distance ratio, compacted myocardial area (CMA) and non-compacted myocardial area (NCMA), distribution of NC, and the assessment of ventricular wall motion abnormalities were performed to investigate correlations with ventricular performance. EF was considered normal over 53%. RESULTS: The distribution of non-compaction in children was similar to published adult data with a predilection for apical, mid-inferior and mid-lateral segments. Five patients had systolic dysfunction with decreased EF. The number of affected segments was the strongest predictor of systolic dysfunction, all five patients had greater than 9 affected segments. Basal segments were less commonly affected but they were affected only in these five severe cases. CONCLUSION: The segmental pattern of involvement of non-compaction in children is similar to that seen in adults. Systolic dysfunction in children is closely related to the number of affected segments.

Herramientas diagnósticas en testículo no palpable / Diagnostic tools in non palpable testis

Objetivo: Estimar la precisión de dos herramientas diagnósticas diferentes: el examen físico realizado por urólogo pediátrico y la ecografía inguino-escrotal, en la localización de un testículo no palpable(TNP) diagnosticado por médico pediatra. Material y Métodos: Se analizaron los datos de 46 pacientes derivados a urología pediátrica con el diagnóstico de testículo no palpable. A todos se les realizó una ecografía inguino-escrotal y resueltos quirúrgicamente según los resultados ultrasonográficos, entre exploración inguinal y laparoscopía.Se compararon los hallazgos clínicos por especialista, los resultados ecográficos y los hallazgos quirúrgicos. De este modo se estimó porcentualmente la precisión en la localización testicular del examen físico por urólogo pediátrico y de la ecografía en un TNP diagnosticado por manos no especializadas. Resultados: 46 pacientes con TNP referidos al urólogo pediátrico, de los cuales 36 eran unilateral y10 bilaterales, con un total de 56 gónadas evaluadas. Se realizó ultrasonografía en 50 casos (89 por ciento), todas en el mismo centro. De los 56 casos, 40 (71 por ciento) fueron sometidos a cirugía. De estas 56 gónadas estudiadas, 18 (32 por ciento) fueron palpables por el especialista, en todas la ecografías demostró igual localización; 14 de los 18 testículos se sometieron a cirugía, ninguno de ellos resultó ser falso positivo. De los 38 TNP para el urólogo, 24 (63 por ciento) fueron identificados por ecotomografía; 13inguinales y 11 intra-abdominales, resultando 3 de las 24 ser falsos positivos ecográficos al compararlos con los hallazgos quirúrgicos. La ecografía no logró identificar 14 (57 por ciento) de las 24 gónadas no palpables, 10 (71 por ciento) de ellas resultaron efectivamente ausentes en la laparoscopia y 4 (28 por ciento) falsos negativos; 2 inguinales (1 de tamaño normal, 1 de tamaño disminuido), 1 intra-abdominal y 1 ectópico perineal pequeño. Conclusión: La evaluación clínica del urólogo pediátrico...

Objective: To estimate the diagnostic accuracy of two different approaches to non-palpable testis (NPT): physical examination conducted by a pediatric urologist and inguino-scrotal ultrasound. Material and Methods: Data from 46 patients referred to the pediatric urologist with the diagnosis of non palpable testicle was prospectively analyzed. Every patient had clinical and imagenologic information. Surgical findings were matched to preoperative paraclinical evaluation. Surgery for NPT was performed either inguinally or laparoscopically. Percentage of accuracy in the location of testicle was estimated for every evaluation. Results: Forty six patients with NPT were referred to the pediatric urologist. Out of these 36 and 10presented with presented with unilateral and bilateral disease, respectively. A total of with 56 gonads were evaluated. Ultrasound was performed in 50 cases (89 percent) at the same site. Of these 56 cases, 40(71 percent) underwent surgery. Out of 56 of these gonads 18 (32 percent) were palpable by the specialist, all them confirmed the same location showed in the ultrasound ; 14 of the 18 testes underwent surgery, none of them turned out to be false positive. Of the 38 NPT evaluated by urologist, 24 (63 percent) were identified by ecotomography. Thirteen corresponded to inguinal and 11 intra abdominal. 3 false positives were verified when compared with sonographic findings. Ultrasound failed to identify 14 (57 percent) of 24non-palpable gonads, 10 (71 percent) of them were actually not found in laparoscopy and 4 (28 percent) were false negatives; 2 inguinal (1 normal size, reduced in size 1), 1 and 1 intra-abdominal perineal ectopic small. Conclusion: In one third of cases, the clinical re-evaluation of pediatric urologist identify NPT diagnosed by medical non specialists, with an excellent accuracy in testicular location, hence pre-operative ultrasound evaluation might not be mandatory. Inguino-scrotal ultrasonography identifies most of NPT...

El niño con cojera por claudicación de una extremidad inferior / The child with limp for lower extremity claudication

La consulta por cojera en un niño es frecuente, en ella el médico debe realizar una completa anamnesis y exhaustivo examen físico para el diagnóstico diferencial, pero en la mayoría de los casos este se define por los hallazgos en los estudios por imágenes. Este trabajo orienta a reconocer qué estudio solicitar de acuerdo a la patología que se sospecha como diagnóstico.

Trombo tumoral en aurícula derecha en tumor de Wilms / Tumoral thrombus in right auricle in Wilms tumor

En el tumor de Wilms (TW) el trombo cavo atrial (TCA) es < 5 por ciento, siendo rareza el compromiso auricular derecho. Revisamos los abordajes quirúrgicos del TCA en el TW. Materiales y métodos: Paciente de 3 años y medio con tumor renal derecho de 10 cm, un cava inferior ocupada por trombo tumoral hasta la aurícula derecha. Además tumor en la vena renal izquierda y cava infra renal. Se utiliza quimioterapia preoperatoria previa biopsia por punción. Resultados: seis semanas de quimioterapia y un TAC demostró reducción 10 por ciento del tumor y menor TCA. Se realizó nefrectomía radical derecha con trombectomía cava abdominal y renal izquierda combinada con trombectomía cava toráxica y auricular, con paro cardiopulmonar, circulación extracorpórea e hipotermia. Evolucionó sin complicaciones, la biopsia no demostró tumor en el riñón o TCA. Se catalogó TW etapa III sin anaplasia y entró en un protocolo DD4A del NWTSG. A 1 mes de la cirugía el TAC mostró ausencia de tumor. Conclusiones: El compromiso tumoral de la cava y aurícula derecha es excepcional en TW. Los mejores resultados y menor morbilidad están asociados a quimioterapia preoperatoria y buena planificación de la vía de abordaje.

Introduction: In the tumor of Wilms (TW) the thrombus cava atrial (TCA) it is < 5%, being exceptional the atrial right involvement. We check the surgical routes of access of the TCA in the TW. Materials and methods: 3-year-old patient with renal right tumor of 10 cm, a inferior vena cava occupied by tumor thrombus up to the right auricle. Also tumor in the renal left vein and vena cava under the kidney. We use preoperative chemotherapy previous biopsy for puncture. Results: 6 weeks of chemotherapy and a TAC demonstrated reduction 10% of the tumor and decrease TCA. We realized radical right nephrectomy with thrombectomy abdominal cava and renal left combined with thrombectomy thorax cava and atrial right, with cardiopulmonar unemployment, extracorporeal circulation and hypothermia. She evolved without complications, the biopsy did not demonstrate tumor in the kidney or TCA. TW catalogued stage the IIIrd without anaplasia and she entered a protocol DD4A of the NWTSG. To 1 month of the surgery the TAC showed absence of tumor. Conclusions: The tumor commitment of the vena cava and right auricle is exceptional in TW. The best results and minor morbidity are associated with preoperative chemotherapy and good planning of the routes of access.

Caracteristicas digestivas del baquiro de collar (Tayassu tajacu): resultados preliminares / Digestive characteristics of the collared peccary (Tayassu tajacu): preliminary results

Las especies Suiformes se caracterizan por poseer un estómago simple, monocamerado. El báquiro de collar posee características gástricas extraordinarias dentro de su Infraorden. El estómago notablemente volumioso y complejo, está constituido por tres cámaras, de las cuales la equivalente al estómago verdadero o cámara pilórica representa solamente el 25% (en área y contenido de digesta) del estómago en animales adultos. seis tipos topográficamente diferentes de epitelio gástrico son descritos. El presente trabajo presenta resultados preliminares del estudio de la fisiología digestiva del báquiro relativos a la morfología e histología gástrica y distribuciones de tejido y digesta a lo largo del tracto digestivo