Hamartoma of Mature Cardiac Myocytes presenting as a polypoid epicardial tumor in the interatrial groove and with gene fusions by copy number anomalies of chromosome 7.

Hamartoma of Mature Cardiac Myocytes (HMCM) is an extremely rare cardiac tumor characterized by benign growth of differentiated mature striated cardiac myocytes, and usually involves the ventricular myocardium. We describe the case of a 15-year-old female who presented with a short history of atrial fibrillation and a polypoid epicardial tumor that was attached to the interatrial groove by a short pedicle. The resected specimen showed features consistent with HMCM. Although these tumors are not associated with any known molecular or cytogenetic abnormalities, we identified fusions transcripts along with complex copy number anomalies of chromosome 7.

High level of novelty under the hood of convergent evolution.

Little is known about the extent to which species use homologous regulatory architectures to achieve phenotypic convergence. By characterizing chromatin accessibility and gene expression in developing wing tissues, we compared the regulatory architecture of convergence between a pair of mimetic butterfly species. Although a handful of color pattern genes are known to be involved in their convergence, our data suggest that different mutational paths underlie the integration of these genes into wing pattern development. This is supported by a large fraction of accessible chromatin being exclusive to each species, including the de novo lineage-specific evolution of a modular optix enhancer. These findings may be explained by a high level of developmental drift and evolutionary contingency that occurs during the independent evolution of mimicry.

Malaltia de Kikuchi-Fujimoto amb afectació axil·lar / Enfermedad de Kikuchi-Fujimoto con afectación axilar / Kikuchi-Fujimoto disease with axillary involvement

Introducció. La malaltia de Kikuchi-Fujimoto, o limfadenitisnecrosant histiocítica, és una malaltia rara i benigna quesol autolimitar-se.Cas clínic. Pacient de 12 anys amb febre de llarga duradad’origen desconegut i una adenopatia axil·lar. L’anàlisi desang no mostrava alteracions específiques de l’origen etiològic del quadre. L’ecografia a la zona axil·lar va evidenciarun conglomerat adenopàtic de 5x7 cm amb signes inflamatoris. Es va fer una tomografia per emissió de positrons -tomografia computada (PET-TC) que mostrava adenopatiessupra- i infradiafragmàtiques hiperactives amb una taxametabòlica moderada-alta; l’adenopatia axil·lar presentavaun centre no metabòlic, suggestiu de necrosi. El diagnòsticdefinitiu de malaltia de Kikuchi-Fujimoto es va establirmitjançant la biòpsia d’un gangli limfàtic, que també vaconduir a la resolució clínica del quadre.Comentaris. Mitjançant aquest cas s’espera poder millorarla pràctica clínica dels pediatres davant d’un cas de febreamb una adenopatia, en què cal excloure causes més freqüents com malalties infeccioses, inflamatòries, autoimmunitàries o oncològiques, i facilitar-los la comprensió dela malaltia de Kikuchi-Fujimoto, ja que sovint no estan familiaritzats amb el diagnòstic d’aquesta entitat i això condueix a cursos inadequats d’antibiòtics i a un augment deltemps fins al diagnòstic definitiu. Cal remarcar que l’extirpació de l’adenopatia sol establir el diagnòstic i resoldre la clínica. (AU)

Introducción. La enfermedad de Kikuchi-Fujimoto, o linfadenitisnecrotizante histiocítica, es una enfermedad rara y benigna quesuele autolimitarse.Caso clínico. Niño de 12 años con fiebre de larga duración deorigen desconocido y una adenopatía axilar. El análisis de sangreno mostraba alteraciones específicas del origen etiológico delcuadro. La ecografía a nivel axilar evidenció un conglomeradoadenopático de 5x7 cm con signos inflamatorios. Se realizó unatomografía de positrones - tomografía computarizada (PET-TC)que mostraba adenopatías supra e infradiafragmáticas vas con una tasa metabólica moderada-alta; la adenopatía axilarpresentaba un centro no metabólico, sugestivo de necrosis. Eldiagnóstico definitivo de enfermedad de Kikuchi-Fujimoto se estableció mediante la biopsia de un ganglio linfático, que tambiéncondujo a la resolución clínica del cuadro.Comentarios. Mediante este caso, se espera poder mejorar la práctica clínica de los pediatras frente a un caso de fiebre con unaadenopatía, donde se tienen que excluir causas más frecuentescomo enfermedades infecciosas, inflamatorias, autoinmunes u oncológicas, y facilitarles comprensión de la enfermedad de KikuchiFujimoto, ya que a menudo no están familiarizado con el diagnóstico de esta entidad y ello conduce a cursos inadecuados deantibióticos y un aumento del tiempo hasta el diagnóstico definitivo. Remarcar que la extirpación de la adenopatía suele establecerel diagnóstico y resuelve la clínica. (AU)

Introduction. Kikuchi-Fujimoto disease, or histiocytic necrotizinglymphadenitis, is a rare and benign self-limited disease.Case report. 12-year-old child with long-lasting fever of unknownorigin and one axillary adenopathy. The blood tests failed to identify the etiological origin of the condition. Axillary ultrasoundshowed a 5x7 cm adenopathy conglomerate with inflammatorysigns. A PET-CT was performed reporting hyperactive supra andinfradiaphragmatic adenopathies with a moderate-high metabolicrate; the axillary adenopathy presented a non-metabolic center,suggestive of necrosis. The definitive diagnosis of Kikuchi-Fujimoto disease was established by biopsy of a lymph node, whichalso led to the clinical resolution of the condition.Comments. Through this case, we aimed at improving the clinicalpractice of pediatricians in the presence of a case of fever with anadenopathy, where more frequent causes such as infectious, inflammatory, autoimmune, or oncologic diseases should be excluded; and to provide a better understanding of Kikuchi-Fujimotodisease, as the diagnosis of this entity is often unfamiliar, whichleads to inappropriate courses of antibiotics and increased timebefore final diagnosis. The excision of the adenopathy usually establishes the diagnosis and resolves the symptoms. (AU)

Case report: Challenges in immune reconstitution following hematopoietic stem cell transplantation for CTLA-4 insufficiency-like primary immune regulatory disorders.

Cytotoxic T-lymphocyte antigen-4 (CTLA-4) haploinsufficiency is a T-cell hyperactivation disorder that can manifest with both immunodeficiency and immune dysregulation. Approximately one-third of patients may present mild symptoms and remain stable under supportive care. The remaining patients may develop severe multiorgan autoimmunity requiring lifelong immunosuppressive treatment. Hematopoietic stem cell transplantation (HSCT) is potentially curable for patients with treatment-resistant immune dysregulation. Nevertheless, little experience is reported regarding the management of complications post-HSCT. We present case 1 (CTLA-4 haploinsufficiency) and case 2 (CTLA-4 insufficiency-like phenotype) manifesting with severe autoimmunity including cytopenia and involvement of the central nervous system (CNS), lung, and gut and variable impairment of humoral responses. Both patients underwent HSCT for which the main complications were persistent mixed chimerism, infections, and immune-mediated complications [graft-versus-host disease (GVHD) and nodular lung disease]. Detailed management and outcomes of therapeutic interventions post-HSCT are discussed. Concretely, post-HSCT abatacept and human leukocyte antigen (HLA)-matched sibling donor lymphocyte infusions may be used to increase T-cell donor chimerism with the aim of correcting the immune phenotype of CTLA-4 haploinsufficiency.

Extra-axial sacral soft tissue giant cell ependymoma affecting a child: Case report and review of the literature.

An otherwise healthy eight-year-old girl presented with a mass in the soft tissue of the sacral region. The lesion was diagnosed as a vascular malformation on imaging studies, for which percutaneous sclerotherapy was attempted. The mass continued to grow and a complete resection was performed after four years. The pathological diagnosis was giant cell ependymoma (GCE). GCE is a term used to describe a rare histologic variant of ependymoma characterized by malignancy-like morphologic phenotype and indolent behavior. To the best of our knowledge, this is the first case of extra-axial soft tissue sacral GCE reported in a child.

Feasibility of a Miniature Esophageal Heat Exchange Device for Rapid Therapeutic Cooling in Newborns: Preliminary Investigations in a Piglet Model.

Therapeutic hypothermia (TH) after neonatal encephalopathy, commonly provided by 72 hours of whole-body cooling using a wrap, limits parents' physical contact with their infants affecting bonding and may not be suitable for encephalopathic preterm infants with fragile skin. Alternative cooling methods are unavailable for this population. We investigated in a neonatal pig model the feasibility of achieving a 3.5°C reduction in rectal temperature (Trectal) similar to clinical TH protocols from 38.5°C (normothermia for pigs) to a target of 35°C ± 0.2°C, using a novel neonatal esophageal heat exchanger (NEHE), compared its efficacy to passive cooling, and investigated its ability to maintain target Trectal. Ventilated and anesthetized Landrace/Large white newborn pigs had the NEHE inserted. Water at adjustable temperatures and rates flowed down a central tube, returning up a surrounding distensible blind ending latex tube in a continuous loop. An initial experiment guided four subsequent cycles of passive cooling (30 minutes), rewarming to 38.5°C, active esophageal cooling to 35°C ± 0.2°C, active maintenance of target Trectal (30 minutes), and rewarming. We compared surface, rectal temperature, and hemodynamic changes among passive, active, and maintenance phases, and esophageal histopathology against control. Compared with passive cooling, esophageal cooling achieved target Trectal significantly earlier (71.3 minutes vs. 17.25 minutes, p = 0.003) with significantly greater rates of reduction in rectal (p = 0.0002) and surface (p = 0.005) temperatures and heart rate (p = 0.04). A water temperature of 39.1°C-40.2°C at a flow of 108-120 mL/min maintained Trectal around 35°C ± 0.2°C. The higher peak heart rate and blood pressure within 8 minutes of the maintenance phase (p = 0.04) subsequently stabilized. Histopathology showed congestion, edema, and neutrophil infiltration with increasing cycles. Esophageal cooling is feasible and effective in achieving rapid cooling in newborns. Subsequent maintenance at this temperature required continued circulation of warm water. Esophageal histopathology needs further evaluation after 72 hours servo-control cooling with a narrower range of water temperatures in a larger group of animals.

Association of ventricular noncompaction and histiocytoid cardiomyopathy: case report and review of the literature.

We report an association between ventricular noncompaction and histiocytoid cardiomyopathy. Both entities are rare, and only 2 cases of their association have been reported previously in the medical literature. Ventricular noncompaction is believed to be caused by an arrest of the normal endomyocardial development, resulting in a thin and compacted epicardial layer and a thickened noncompacted endocardial layer. Histiocytoid cardiomyopathy is a rare arrhythmogenic disorder characterized by aggregates of oncocytic cells involving predominantly the subendocardium. These cells are thought to be abnormal Purkinje cells. In our case, the histiocytoid cells showed strong cytoplasmic expression for the skeletal muscle transcription factor MyoD1, which could be attributed to cross reactivity with an undetermined cytoplasmic antigen.

Occlusion of modified Blalock-Taussig shunt after clopidogrel cessation.

It has been suggested previously that rebound hypercoagulability may be responsible for morbidity and mortality following clopidogrel cessation in adults with acute coronary syndrome. We report a case of acute occlusion of a modified Blalock-Taussig shunt in an infant after clopidogrel discontinuation.

Pathological findings in the complete trisomy 9 syndrome: three case reports and review of the literature.

The term "complete trisomy 9" is used to indicate trisomy of the entire chromosome 9 without evidence of mosaicisms. It is a relatively rare chromosomal abnormality because the vast majority of affected pregnancies result in 1st trimester spontaneous abortions. The purpose of this paper is to delineate the complete trisomy 9 syndrome, based on autopsy findings. We performed an exhaustive review of the literature of complete forms of this trisomy with autopsy examination and added 3 new cases from our center with new findings not previously described.

Mejoramiento de una cepa de streptomyces parvullus productora de actinomicina D mediante el uso de los protoplastos / Iprovement of an actinomycin D-releasing streptomyces parvullus strain by the use of protoplasts

Se llevó a cabo la fusión de protoplastos de cepas auxotróficas y la regeneración de protoplastos de la cepa parental en algunos casos previamente tratados con polietilenglicol (PEG) pm=6 000 al 50

, antes de ser efectuada la siembra en medio completo R2YE, con vistas a estudiar el efecto de este agente en condiciones no selectivas. En ambos casos las colonias más productoras de antibiótico fueron seleccionadas mediante determinación de actividad antibiótica en medio sólido y una segunda selección en medio líquido de producción específico para el antibiótico actinomicina D. Además, en la población de protoplastos regenerados, algunas colonias presentaban variaciones en su morfología, en sus requerimientos nutricionales y en los marcadores de resistencia a diferentes antibióticos probados. El análisis de ADN cromosómico de algunas variantes genéticas seleccionadas demostró la no existencia de reordenamientos cromosómicos que pudieran explicar estas variaciones

Mejoramiento de una cepa de streptomyces parvullus productora de actinomicina D mediante el uso de los protoplastos / Improvement of an actinomycin D-releasing streptomyces parvullus strain by the use of protoplasts

Se llevó a cabo la fusión de protoplastos de cepas auxotróficas y la regeneración de protoplastos de la cepa parental en algunos casos previamente tratados con polietilenglicol (PEG) pm=6 000 al 50 %, antes de ser efectuada la siembra en medio completo R2YE, con vistas a estudiar el efecto de este agente en condiciones no selectivas. En ambos casos las colonias más productoras de antibiótico fueron seleccionadas mediante determinación de actividad antibiótica en medio sólido y una segunda selección en medio líquido de producción específico para el antibiótico actinomicina D. Además, en la población de protoplastos regenerados, algunas colonias presentaban variaciones en su morfología, en sus requerimientos nutricionales y en los marcadores de resistencia a diferentes antibióticos probados. El análisis de ADN cromosómico de algunas variantes genéticas seleccionadas demostró la no existencia de reordenamientos cromosómicos que pudieran explicar estas variaciones

Formación y regeneración de protoplastos en streptomyces erythreus productora de eritromicina / Protoplast relese and regeneration in erythroycin producing streptomyces erythreus

Se establecen las condiciones necesarias para la formación de protoplastos en Streptomyces erythreus con el uso del tratamiento enzimático con lisozima, además del medio específico y de las condiciones más efectivas para la regeneración de los mismos

Formación y regeneración de protoplastos en streptomyces erythreus productora de eritromicina / Protoplast relese and regeneration in erythromycin producing streptomyces erythreus

Se establecen las condiciones necesarias para la formación de protoplastos en Streptomyces erythreus con el uso del tratamiento enzimático con lisozima, además del medio específico y de las condiciones más efectivas para la regeneración de los mismos