Helper T cell immunity in humans with inherited CD4 deficiency.

CD4+ T cells are vital for host defense and immune regulation. However, the fundamental role of CD4 itself remains enigmatic. We report seven patients aged 5-61 years from five families of four ancestries with autosomal recessive CD4 deficiency and a range of infections, including recalcitrant warts and Whipple's disease. All patients are homozygous for rare deleterious CD4 variants impacting expression of the canonical CD4 isoform. A shorter expressed isoform that interacts with LCK, but not HLA class II, is affected by only one variant. All patients lack CD4+ T cells and have increased numbers of TCRαß+CD4-CD8- T cells, which phenotypically and transcriptionally resemble conventional Th cells. Finally, patient CD4-CD8- αß T cells exhibit intact responses to HLA class II-restricted antigens and promote B cell differentiation in vitro. Thus, compensatory development of Th cells enables patients with inherited CD4 deficiency to acquire effective cellular and humoral immunity against an unexpectedly large range of pathogens. Nevertheless, CD4 is indispensable for protective immunity against at least human papillomaviruses and Trophyrema whipplei.

Monoclonal Gammopathy of Renal Significance with Deposits of Infrequent Morphology: Two Case Reports of Light and Heavy Chain Deposition Disease with Atypical Presentation and Literature Review.

BACKGROUND: Monoclonal immunoglobulin deposition disease (MIDD) includes three entities: light chain deposition disease (LCDD), heavy chain deposition disease (HCDD) and light and heavy chain deposition disease (LHCDD). The renal presentation can manifest with varying degrees of proteinuria and/or nephrotic syndrome, microhematuria, and often leads to end-stage renal disease. Given the rarity of LHCDD, therapeutic approaches for this condition remain inconclusive, as clinical trials are limited. CASE PRESENTATION: We report two male patients with underlying monoclonal gammopathy of renal significance (MGRS) associated with LHCDD lesions. Both cases had non-nephrotic proteinuria, moderately impaired renal function, and normal levels of C3 and C4. Light microscopy of the renal biopsies in both patients did not show lesions of nodular glomerulosclerosis. Immunofluorescence showed a staining pattern with interrupted linear IgA-κ in patient #1 and IgA-λ in patient #2 only along the glomerular basement membrane (GBM). Electron microscopy of patient #1 revealed electrodense deposits in the subendothelial and mesangial areas only along the GBM. DISCUSSION: In this case series, we discuss the clinical, analytical, and histopathological findings of two rare cases of LHCDD. Both patients exhibited IgA monoclonality and were diagnosed with monoclonal gammopathy of undetermined significance (MGUS) by the hematology department at the time of renal biopsy. Treatment with steroids and cytotoxic agents targeting the clone cells responsible for the deposition disease resulted in a favorable renal and hematologic response.

Adams-Oliver syndrome and associated complications: Report of a family in Colombia and review of the literature / Síndrome de Adams-Oliver y complicaciones asociadas: reporte de una familia en Colombia y revisión de la literatura

The Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita of the scalp, terminal transverse limb defects, and congenital telangiectatic cutis marmorata. It can occur through different inheritance patterns: autosomal dominant, autosomal recessive, or de novo dominant mutations. Although the Adams-Oliver syndrome is a rare disease, it is essential to know its clinical characteristics and inheritance patterns, to establish a correct diagnosis and its possible complications during follow-up. In the present study, we describe the case of an adolescent with Adams-Oliver syndrome with an autosomal dominant inheritance pattern, pulmonary hypertension and plastic bronchitis, and several compromised family members.

El síndrome de Adams-Oliver es un trastorno congénito raro, caracterizado por aplasia cutis congénita en el cuero cabelludo, defectos terminales transversales de las extremidades y piel marmorata telangiectásica congénita. Este puede presentarse debido a diferentes patrones de herencia de tipo autosómico dominante o autosómico recesivo, o por mutaciones dominantes de novo. Aunque el síndrome de Adams-Oliver es una enfermedad poco frecuente, es importante conocer sus características clínicas y patrones de herencia, para así establecer un correcto diagnóstico y sus posibles complicaciones durante el seguimiento. En el presente estudio, se describe el caso de una adolescente con síndrome de Adams-Oliver con patrón de herencia autosómica dominante, hipertensión pulmonar y bronquitis plástica. Había varios miembros de su familia con el mismo compromiso.

Feocromocitoma adrenal gigante derecho. Reporte de un caso / Right giant adrenal pheochromocytoma. A case report

Introducción. El feocromocitoma es una neoplasia endocrina productora de catecolaminas, poco común, que generalmente se origina en la medula suprarrenal, y rara vez en el tejido cromafín extraadrenal, dándosele el nombre de paraganglioma. Existe una gran variedad de signos y síntomas secundarios a la secreción excesiva de catecolaminas por lo que su diagnóstico y tratamiento oportunos son fundamentales para evitar complicaciones potencialmente fatales. Caso clínico. Paciente femenina de 54 años, con dolor abdominal intermitente y con aumento progresivo, localizado en el cuadrante superior derecho. Por estudios imagenológicos se diagnosticó una gran masa suprarrenal derecha, con pruebas de laboratorio que encontraron niveles de metanefrinas y catecolaminas en orina normales. Discusión. Debido al tamaño del tumor y al íntimo contacto con las estructuras adyacentes, se realizó la resección por vía abierta, sin complicaciones y con una buena evolución postoperatoria. El informe anatomopatológico confirmó el diagnóstico de feocromocitoma suprarrenal derecho. Conclusión. Aunque poco frecuente, el feocromocitoma es una patología que se debe sospechar ante la presencia de masas suprarrenales y alteraciones relacionadas con la secreción elevada de catecolaminas. Se debe practicar el tratamiento quirúrgico de forma oportuna.

Introduction. Pheochromocytoma is a rare catecholamine-producing endocrine neoplasm that generally originates in the adrenal medulla, and rarely in extra-adrenal chromaffin tissue, giving it the name of paraganglioma. There is a wide variety of signs and symptoms secondary to excessive secretion of catecholamines, so its timely diagnosis and treatment are essential to avoid potentially fatal complications. Clinical case. A 54-year-old female patient with intermittent abdominal pain and progressive increase, located in the right upper quadrant. By imaging studies, a large right adrenal mass was diagnosed, with laboratory tests that found normal levels of metanephrines and catecholamines in urine. Discussion. Due to the size of the tumor and the intimate contact with the adjacent structures, the resection was performed by open approach, without complications and with a good postoperative evolution. The pathology report confirmed the diagnosis of right adrenal pheochromocytoma. Conclusion. Although rare, pheochromocytoma is a pathology that should be suspected in the presence of adrenal masses and changes related to elevated catecholamine secretion. Surgical treatment should be performed in a timely manner.

Polyphenolic extract from Punica granatum peel causes cytoskeleton-related damage on Giardia lamblia trophozoites in vitro.

Background: Diarrheal diseases caused by protozoa have a great impact on human health around the world. Giardia lamblia is one of the most common flagellates in the intestinal tract. Factors such as adverse effects to first-line drugs or the appearance of drug-resistant strains, make it necessary to identify new treatment alternatives. Agroindustry waste, like pomegranate peel, are a source of phenolic compounds, which possess antiparasitic activities. In vivo studies demonstrated antigiardiasic potential by reducing cyst shedding and protecting intestinal cells; however, they did not identify the compounds or elucidate any mechanism of action in the parasite. The objective of this study is to identify potential molecular targets and to test the in vitro effects of polyphenols from Punica granatum on Giardia lamblia. Methods: The in vitro antigiardial potential of polyphenolic extract from pomegranate peel (Punica granatum L.) obtained using microwave-ultrasound methodology was evaluated on Giardia lamblia trophozoites. Extract phytochemical identification was performed by HPLC/MS analysis. The effect of polyphenolic extract on growth and adhesion capacity was determined by parasite kinetics; morphological damage was evaluated by SEM, alteration on α-tubulin expression and distribution were analyzed by western blot and immunofluorescence, respectively. Results: The pomegranate peel extract showed the presence of ellagitannins (punicalin and punicalagin, galloyl-dihexahydroxydiphenoyl-hexoside), flavones (luteolin), and ellagic acid, that caused an inhibitory effect on growth and adhesion capacity, particularly on cells treated with 200 µg/mL, where growth inhibition of 74.36%, trophozoite adherence inhibition of 46.8% and IC50 of 179 µg/mL at 48 h were demonstrated. The most important findings were that the extract alters α-tubulin expression and distribution in Giardia trophozoites in a concentration-independent manner. Also, an increase in α-tubulin expression at 200 µg/mL was observed in western blot and diffuse or incomplete immunolabeling pattern, especially in ventral disk. In addition, the extract caused elongation, disturbance of normal shape, irregularities in the membrane, and flagella abnormalities. Discussion: The pomegranate peel extract affects Giardia trophozoites in vitro. The damage is related to the cytoskeleton, due to expression and distribution alterations in α-tubulin, particularly in the ventral disk, a primordial structure for adhesion and pathogenesis. Microtubule impairment could explain morphological changes, and inhibition of adhesion capacity and growth. Besides, this is the first report that suggests that ellagic acid, punicalin, punicalagin and luteolin could be interactioning with the rich-tubulin cytoskeleton of Giardia. Further investigations are needed in order to elucidate the mechanisms of action of the isolated compounds and propose a potential drug alternative for the giardiasis treatment.

Metabolomics studies of allelopathy: a review

SUMMARY Introduction: Allelopathy is a harmful effect indirectly or directly produced by one plant to another through the production of chemical substances that enter the environment. Allelopathy has a pertinent significance for systems of ecological, sustainable, and integrated management. These natural reactions have multiple effects, ranging from processes of inhibition and stimulation of growth in neighbor plants to inhibition of seed germination. Metabolomics is a discipline integral that studies all the metabolites in a particular tissue, organ, or organism in a specific developmental stage or under particular environmental conditions, and it allows for the assessment of the contribution of genetic and environmental factors to the modification of metabolism. With the growing number of "omics", new approaches can be used to understand metabolic changes that occur in plants, especially in proteomics and metabolomics, and thus those analyses could be profiled in coming years with the objective of knowing the allelopathome of a larger number of plant species and their interactions. Aim: To provide a recent update on the science of allelopathy in the context of physiology, practical application of metabolomics in allelopathic studies, allelochemicals analyzed by metabolomics in alfalfa, rice, canola, sorghum, rye, wheat and other crops and finally mentionated the biological activity of allelopathic secondary metabolites. Methods: A recent comprehensive literature search of allelopathy and metabolomics in journal databases was carried out. Results: The concept of allelopathy, allelopathic mechanisms, metabolomic studies in allelopathy, allelochemicals analysed by metabolomics in alfalfa, rice, canola, rye sorghum, wheat and other agro-industrially important crops, and the biological activity of allelopathic secondary metabolites are detailed. Conclusions: These studies suggest that a combination of secondary metabolites can be used to attack weeds. In situ and In vitro culture of secondary metabolites (allelochemical types) is recommended to be used as organics compounds in weed organic control in the future.

Introducción: la alelopatía es un efecto nocivo producido directa o indirectamente por una planta a otra a través de la producción de sustancias químicas que ingresan al medio ambiente. La alelopatía es importante para los sistemas de manejo ecológico, sostenible e integrado. Estas reacciones naturales tienen múltiples efectos, que van desde procesos de inhibición y estimulación del crecimiento en plantas vecinas hasta la inhibición de la germinación de semillas. La metabolómica es una disciplina integral que estudia todos los metabolitos en un determinado tejido, órgano u organismo en una determinada etapa de desarrollo o en determinadas condiciones ambientales, y permite evaluar la contribución de los factores genéticos y ambientales a la modificación del metabolismo. Con el creciente número de "ómicas", se pueden utilizar nuevos enfoques para comprender los cambios metabólicos que ocurren en las plantas, especialmente en proteómica y metabolómica, y así esos análisis podrían perfilarse en los próximos años con el objetivo de conocer el alelopatoma de un mayor número. de las especies de plantas y sus interacciones. Objetivo: proporcionar una actualización reciente sobre la ciencia de la alelopatía en el contexto de la fisiología, la aplicación práctica de la metabolómica en los estudios alelopáticos, los aleloquímicos analizados por metabolómica en alfalfa, arroz, canola, sorgo, centeno, trigo y otros cultivos y, finalmente, mencionar los aspectos biológicos. actividad de los metabolitos secundarios alelopáticos. Métodos: se realizó una búsqueda bibliográfica exhaustiva reciente sobre alelopatía y metabolómica en bases de datos de revistas. Resultados: se detalla el concepto de alelopatía, los mecanismos alelopáticos, los estudios metabolómicos en alelopatía, los aleloquímicos analizados por metaboló-mica en alfalfa, arroz, canola, sorgo de centeno, trigo y otros cultivos de importancia agroindustrial, y la actividad biológica de los metabolitos secundarios alelopáticos. Conclusiones: estos estudios sugieren que se puede utilizar una combinación de metabolitos secundarios para atacar a las malas hierbas. Se recomienda el cultivo in situ e in vitro de metabolitos secundarios (de tipo aleloquímico) para ser utilizados como compuestos orgánicos en el control orgánico de las malas hierbas en el futuro.

Introdução: A alelopatia é um efeito nocivo produzido de forma indireta ou direta por uma planta a outra por meio da produção de substâncias químicas que adentram o meio ambiente. A alelopatia é importante para sistemas de manejo ecológico, sustentável e integrado. Essas reações naturais têm múltiplos efeitos, que vão desde processos de inibição e estimulação do crescimento em plantas vizinhas até a inibição da germinação de sementes. A metabolômica é uma disciplina integral que estuda todos os metabólitos em um determinado tecido, órgão ou organismo em um estágio de desenvolvimento específico ou condições ambientais particulares, e permite avaliar a contribuição de fatores genéticos e ambientais para a modificação do metabolismo. Com o crescente número de "ômicas", novas abordagens podem ser utilizadas para entender as alterações metabólicas que ocorrem nas plantas, principalmente em proteômica e metabolómica, e assim essas análises poderão ser perfiladas nos próximos anos com o objetivo de conhecer o alelopatoma de um número maior das espécies vegetais e suas interações. Objetivo: fornecer uma atualização recente sobre a ciência da alelopatia no contexto da fisiologia, aplicação prática da metabolômica em estudos alelopáticos, aleloquímicos analisados por metabolômica em alfafa, arroz, canola, sorgo, centeio, trigo e outras culturas e, finalmente, mencionar atividade de metabólitos secundários alelopáticos. Métodos: uma pesquisa bibliográfica abrangente recente sobre alelopatia e metabolismo foi conduzida em bancos de dados de periódicos. Resultados: o conceito de alelopatia, mecanismos alelopáticos, estudos metabólicos em alelopatia, aleloquímicos analisados por metabolômicos em alfafa, arroz, canola, sorgo de centeio, trigo e outros cultivos agroindustriais importantes, e a atividade biológica dos metabólitos secundários alelopáticos são detalhados. Conclusões: esses estudos sugerem que uma combinação de metabólitos secundários pode ser usada para atacar ervas daninhas. Recomenda-se o cultivo in situ e in vitro de metabólitos secundários (tipo alquímico) para uso como compostos orgânicos no controle de ervas daninhas orgânicas no futuro.

Mesohepatectomía, una alternativa para el manejo del hepatocarcinoma en paciente no cirrótico: serie de casos / Mesohepatectomy, an alternative for the management of hepatocellular carcinoma in non-cirrhotic patient: case series

Introducción. La resección quirúrgica es el tratamiento de elección de las neoplasias primarias y secundarias del hígado. Los pacientes con hepatocarcinoma de los segmentos centrales representan un reto, siendo la hepatectomía extendida la técnica más usada, sin embargo, el riesgo postquirúrgico de falla hepática es alto, dado que la resección puede comprometer entre el 65 % y el 80 % del volumen hepático. La mesohepatectomía es una alternativa que permite dejar un volumen hepático residual suficiente. El objetivo de este trabajo es presentar nuestra experiencia en el tratamiento de pacientes con hepatocarcinomas en segmentos centrales a quienes se les realizó mesohepatectomía. Serie de casos. Se presentan tres pacientes no cirróticos, con hepatocarcinoma en los segmentos 4, 5 y 8, que fueron atendidos en el Hospital San Vicente Fundación, en las sedes de Medellín y de Rionegro, entre 2018 y 2020. Resultados. La mesohepatectomía se realizó mediante ligadura selectiva de los pedículos del segmento 4 y del sector anterior derecho. Se utilizó aspirador ultrasónico y endograpadora para la transección hepática. La duración de la maniobra de Pringle varió entre 16 y 43 minutos. El sangrado promedio fue de 1000 ml. Solo un paciente presentó fuga biliar tipo B. No hubo mortalidad a 30 días. Conclusiones. La mesohepatectomía es una alternativa segura para pacientes con tumores en los segmentos centrales, que permite disminuir el riesgo de falla hepática luego de la resección.

Introduction. Surgical resection is the treatment of choice for primary and secondary neoplasms of the liver. Patients with central segment hepatocarcinoma represent a challenge, with extended hepatectomy being the most widely used technique. However, the postsurgical risk of liver failure is high since resection can compromise between 65% and 80% of liver volume. Mesohepatectomy is an alternative that allows a sufficient residual liver volume to be left. The objective of this work is to present treatment of patients with central segment hepatocarcinoma.Clinical cases. Three non-cirrhotic patients are presented, with hepatocarcinoma in segments 4, 5 and 8, who were treated at the San Vicente Fundación Hospital in Medellín and Rionegro, between 2018 and 2020.Results. Mesohepatectomy was performed by selective ligation of the pedicles of segment 4 and the right anterior sector. An ultrasonic aspirator and endostapler were used for liver transection. The duration of the Pringle ma-neuver ranged from 16 to 43 minutes. The average bleeding was 1000 cc. Only one patient had type B bile leakage. There was no 30-day mortality.Conclusions. Mesohepatectomy is a safe alternative for patients with tumors in the central segments, which reduces the risk of liver failure after resection.

VIPoma: a rare cause of diarrhea. A case report / VIPoma: una causa poco frecuente de diarrea. Case report

Abstract Introduction: Vasoactive intestinal peptide-secreting tumor (VIPoma) is a rare functional pancreatic neuroendocrine tumor (F-PNET) characterized by secretory diarrhea, hypokalemia, and hypochlorhydria. Its low incidence and high risk of malignancy pose a clinical challenge that requires a high degree of clinical suspicion. Case presentation: A 61-year-old woman visited the emergency department of a tertiary care hospital in Medellín, Colombia, due to chronic diarrhea (7 months) that led to dehydration, renal failure, metabolic acidosis, and hypokalemia. As a result, a treatment based on loperamide, intravenous fluids and broad-spectrum antibiotics was started. In addition, chromogranin A levels of 477 ug/L (<100) were reported, while an abdominal MRI showed a 33x30mm mass in the head and uncinate process of the pancreas, so outpatient surgical management was decided. However, three days after discharge, and due to the persistence of clinical signs, the patient was admitted to another hospital (also a tertiary care hospital), where, given the high suspicion of VIPoma, and once the diarrhea was solved, the mass was removed (Whipple procedure) without any complication. Finally, the diagnosis was confirmed based on serum vasoactive intestinal peptide levels (930 pg/mL (RV<75)) and the pathology report (PNET tumor grade 2). Two years after the surgery, the patient was asymptomatic, and no residual lesions or metastases were evident in a control MRI. Conclusion: Late diagnosis of VIPoma is associated with worsened quality of life, severe complications, and high prevalence of metastasis. Therefore, it should be suspected in patients with chronic secretory diarrhea that is not caused by an infection, since early diagnosis and timely treatment can contribute to achieving better survival rates in these patients.

Resumen Introducción. El tumor secretor de péptido intestinal vasoactivo o VIPoma es un tumor funcional neuroendocrino pancreático (F-PNET) raro caracterizado por diarrea secretora, hipokalemia e hipoclorhidria. Su baja incidencia y alto riesgo de malignidad representan un reto clínico que requiere un alto grado de sospecha clínica. Presentación del caso. Mujer de 61 años quien consultó al servicio de urgencias de un hospital de tercer nivel en Medellín, Colombia, por diarrea crónica (7 meses) que llevó a des-hidratación, falla renal, acidosis metabólica e hipokalemia, por lo que se inició manejo con loperamida, líquidos endovenosos y antibióticos de amplio espectro. Además, se reportaron niveles de cromogranina A de 477 ug/L (<100) y, mediante resonancia magnética (RM) abdominal, se identificó masa de 33x30mm en cabeza y proceso uncinado de páncreas, por lo que se decidió manejo quirúrgico ambulatorio. Sin embargo, tres días después del alta, la paciente ingresó, por persistencia de los signos, a un segundo hospital (también de tercer nivel), donde ante la alta sospecha de VIPoma, y una vez superada la diarrea, se extirpó la masa (procedimiento de Whipple). Finalmente, con base en los niveles séricos de péptido intestinal vasoactivo (930 pg/ml (VR<75)) y el informe de patología (tumor PNET grado 2), se confirmó el diagnóstico. Dos años después del procedimiento, la paciente se encontraba asintomática y sin evidencia de lesiones residuales ni metástasis en RM de control. Conclusión. El diagnóstico tardío de VIPoma se asocia con detrimento de la calidad de vida, complicaciones graves y alta prevalencia de metástasis, por lo que debe sospecharse en pacientes con diarrea crónica secretora no causada por infecciones, pues de diagnosticarse a tiempo e iniciarse el tratamiento oportuno se pueden lograr mejores tasas de supervivencia en estos pacientes.

Ureterostomía cutánea como derivación urinaria definitiva en trasplante renal / Cutaneous ureterostomy as definitive urinary diversion in kidney transplant

Introducción. Cerca del 15 % de los pacientes con insuficiencia renal crónica terminal tienen alteraciones de las vías urinarias inferiores. Estas anomalías eran consideradas una contraindicación para el trasplante renal. Por lo anterior, el objetivo del presente trabajo es describir el comportamiento sociodemográfico y clínico de los pacientes trasplantados renales con ureterostomía cutánea como técnica de derivación definitiva de las vías urinarias. Métodos. Se realizó un estudio descriptivo, longitudinal y retrospectivo de los pacientes trasplantados renales con vejiga anormal y ureterostomía cutánea, entre enero de 1973 y octubre de 2012.Resultados. En 4.294 trasplantes renales, se practicaron 24 (0,55 %) ureterostomías, 19 (79,1 %) como técnica inicial y 5 por falla de la ureteroneocistostomía. Diez (41,7 %) ureterostomías fallaron, la mayoría (8 casos) por estenosis. Se presentó infección urinaria en 20 pacientes y la mortalidad fue del 8,3 % (2/24). El 50 % (12/24) de los pacientes con trasplante de riñón estuvieron libres de infección urinaria durante el primer año. La supervivencia del riñón trasplantado fue de 93,8 % (23/24) a los 18 meses, de 85,9 % (20/24) a los 36 meses y de 66,7 % (16/24) a los 50 meses de seguimiento. La supervivencia de los injertos con ureterostomía sin infección fue del 100 % durante el periodo de seguimiento, mientras que la supervivencia de los riñones con infección urinaria fue de 93 % (23/24) a los 18 meses, de 76 % (18/24) a los 36 meses y de 54 % (13/24) a los 50 meses (p=0,235). Conclusiones. La ureterostomía cutánea es una alternativa segura para la derivación urinaria en pacientes tras-plantados renales con alteraciones de la vejiga que no permite su uso o preparación antes del trasplante

Introduction. About 15% of patients with end-stage chronic renal failure have lower urinary tract abnormalities. These abnormalities were considered a contraindication for kidney transplantation. Therefore, the objective of the present work is to describe the sociodemographic and clinical behavior of renal transplant patients with skin ureterostomy as a definitive urinary tract bypass technique.Methods. A descriptive, longitudinal and retrospective study of renal transplant patients with abnormal bladder and skin ureterostomy was conducted between January 1973 and October 2012.Results. We performed 24 (0.55%) ureterostomies in 4.294 kidney transplants. Nineteen (79.1%) were used as first and definitive urinary diversion, and five were ureteroneocystostomies that failed and required ureterostomy as alternative diversion. Ten (41.7%) ureterostomies failed, most (eight cases) from stenosis. Urinary tract infection (UTI) were present in 20 patients and mortality was 8.3% (2/24); 50% (12/24) of kidney transplants were free of urinary tract infection during the first year. The survival of the transplanted kidney was 93.8% (23/24) at 18 months, 85.9% (20/24) at 36 months, and 66.8% (16/24) at 50 months of follow up. The survival of grafts with ureterostomy without urinary tract infection were 100% during the follow-up period, while the survival of the kidneys with UTI was 93% (23/24) at 18 months, 76% (18/24) at 36 months, and 54% (13/24) at 50 months (p=0.235).Conclusions. Cutaneous ureterostomy is a safe alternative for urinary diversion in transplanted renal patients with bladder abnormalities that cannot be prepared or used for a routine diversion before transplantation

ß-Tubulinopathy caused by a mutation of the TUBB2B gene: magnetic resonance imaging findings of the brain.

Patients with mutations in tubulin-related genes usually present with brain malformations, intellectual disability, epilepsy, microcephaly and ocular abnormalities. In these patients the diagnosis can be suggested by neuroimaging findings. We report a 5-year-old patient with characteristic magnetic resonance imaging findings including malformation of cortical development, fused basal ganglia, large head of the caudate nuclei, absent anterior limbs of the internal capsules, corpus callosum dysgenesis and dysplastic cerebellar vermis. Sequencing of the TUBB2B gene confirmed a heterozygous mutation: c. 260C>A (p. Pro87Gln).

Sustainable production with obtaining glucosamine from crab exoskeletons / Produção sustentável para obtenção de glucosamina a partir de exoesqueletos de caranguejo

ABSTRACT: Two chemical treatments, five enzymatic (pectinase, lipase, hemicellulase, hemicellulose-cellulase or lipase-pectinase) and one microbiological (Bacillus subtilis) treatment were evaluated to obtain glucosamine hydrochloride (Gluc-HCl) from the chitin obtained from crab (Callinectes bellicosus) exoskeletons. Chemical treatments were referred as Method A (HCl hydrolysis during 75 min at 90°C) and Method B (HCl hydrolysis during 20 min and 14 h of rest). Glucosamine and, in some cases, N-acetyl-D-glucosamine were identified and quantified by HPLC. Treatments with the greater concentrations of Gluc-HCl in descending order were: lipase (94.4 mg/g), microbiological (45.7 mg/g), lipase-pectinase (22.9 mg/g), hemicellulase-cellulase (20.9 mg/g), hemicellulase (15.3 mg/g), pectinase (10.7 mg/g), Chemical A (7.3mg/g) and Chemical B (7.3mg/g). In terms of yield, the best treatments in descending order were: pectinase (94%), microbiological (94%), hemicellulase (92%), lipase (91%), Chemical B (88%), lipase-pectinase (88%), hemicellulase-cellulase (86%) and Chemical A (28.5%). The two most profound treatments were lipase and microbiological, so they are proposed as part of a viable method to produce Gluc-HCl from crab exoskeletons; they are ecofriendly procedures and could add value to the crab´s productive chain.

RESUMO: Dois tratamentos químicos, cinco enzimáticos (pectinase, lipase, hemicelulase, hemicelulose-celulase ou lipase-pectinase) e um microbiológico (Bacillus subtilis) foram avaliados para obter o cloridrato de glucosamina (Gluc-HCl) da quitina obtida a partir de exoesqueletos de caranguejo (Callinectes. Bellicosus). Os dois tratamentos químicos foram nomeados como método A (hidrólise de HCl para 75 min a 90 °C) e método B (hidrólise de HCl para 20 min e 14 h de repouso). A Glucosamina e, em alguns casos, N-acetil-D-glucosamina foram identificados e quantificados por HPLC. Os tratamentos em que as melhores concentrações de Glucosamina-HCl foram obtidas, em ordem decrescente: lipase (94,4 mg/g), microbiológica (45,7 mg/g), lipase-pectinase (22,9 mg/g), hemicelulase-celulase (20,9 mg/g), hemicelulase (15,3 mg/g), pectinase (10,7mg/g), Quïmica A (7,3 mg/g) e Quïmica B (7,3 mg/g). Em termos de produtividade, os melhores tratamentos em ordem decrescente foram: pectinase (94%), microbiológica (94%), hemicelulase (92%), lipase (91%), química B (88%), lipase-pectinase (88%), hemicelulase- celulase (86%) e produto químico A (28,5%). Os dois melhores tratamentos foram lipase e microbiológicos, propostos como método viável para obtenção de Gluc-HCl a partir de exoesqueletos de caranguejo; cumprem procedimentos ecologicamente corretos e podem agregar valor à cadeia produtiva do caranguejo.

Linfoma de la zona gris con características intermedias entre un linfoma difuso de células B grandes y un linfoma Hodgkin clásico. Reporte de un caso y revisión de la literatura / Grey zone lymphoma with features intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma. Case report and literature review

Resumen Entre los linfomas de la zona gris (LZG) encontramos neoplasias con características compartidas entre un linfoma difuso de células B grandes (LDCBG) y un linfoma de Hodgkin clásico (LHC). Lo poco habitual de la patología combinado con la heterogenicidad de la enfermedad, su reciente descripción como entidad específica que conlleva a dificultad y reto diagnóstico, así como la falta de suficiente experiencia terapéutica hacen de la enfermedad una entidad compleja de difícil diagnóstico y reto terapéutico que justifica su descripción continua. Se presenta una paciente con fiebre de un mes sin respuesta al manejo inicial, se estudió y realizó biopsia de ganglio inguinal izquierdo con resultado diagnóstico de LZG con características intermedias entre LDCBG y LHC. Aunque no existen guías establecidas para el manejo de esta entidad, la evidencia actual sugiere mejor respuesta en tratamientos dirigidos a LDCBG, misma terapia empleada en esta paciente con la cual se obtuvo respuesta favorable.

Abstract In the grey zone lymphomas (GZL), there are overlapping characteristics between diffuse large B-cell lymphoma (DLBCL) and classic Hodgkin lymphoma (CHL). The unusual nature of the pathology combined with the heterogeneity of the disease, its recent description as a specific entity, its diagnostic difficulty, and the lack of sufficient therapeutic experience justifies its continuous description. The case is presented of a patient with a fever of one month onset, with no response to initial management. A left inguinal lymph node biopsy reported a diagnosis of GZL with intermediate characteristics between DLBCL and CHL. Although there are no established guidelines for the management of this condition, the current evidence suggests a better response in treatments meant for diffuse large B-cell lymphoma. This same therapy was used in this patient, with a favourable clinical outcome.

IDENTIFICACIÓN MOLECULAR Y DISTRIBUCIÓN POTENCIAL DEL ANFÍPODO TERRESTRE Talitroides topitotum (Crustacea: Amphipoda: Talitridae) EN COSTA RICA / Molecular Identification and Potential Distribution of Terrestrial Amphipod Talitroides topitotum (Crustacea: Amphipoda: Talitridae) in Costa Rica

RESUMEN El anfípodo terrestre, Talitroides topitotum, es un talítrido distribuido mundialmente en regiones subtropicales y templadas, con un amplio rango de distribución altitudinal, temperatura y humedad. Se colectaron y procesaron especímenes desde el año 2012 al 2016, mediante remoción-filtración de sustratos húmedos. Se identificaron taxonómicamente por características fenotípicas diagnósticas, se determinó su estado de desarrollo y se separaron por sexo. Se extrajo ADN de anfípodos completos, seguido de una PCR de los genes citocromo oxidasa subunidad 1 y del ARN ribosomal de la subunidad 16S. Se obtuvo un árbol filogenético por máxima verosimilitud con un modelo GTR-GAMMA. El análisis de la distribución potencial de T. topitotum se estimó utilizando 19 variables bioclimáticas. En este estudio, se amplía la distribución previamente reportada y en altitudes entre los 1900 a 595 m s.n.m. Se analizaron 39 localidades, en las cuales: 1) Hay presencia de T. topitotum, 2) no hubo presencia de anfípodos terrestres, 3) no hubo presencia de Talitroides sp., pero sí de un anfípodo nativo. La abundancia proporcional de T. topitotum se inclina hacia las hembras adultas, una proporción alta de juveniles y no se detectaron individuos machos. El análisis bioinformático determinó el posicionamiento taxonómico de la especie T. topitotum dentro del agrupamiento de anfípodos terrestres, además, la especie exógena diverge de Cerrorchestia hyloraina demostrando una separación filogenética entre especies, las cuales pueden estar compartiendo hábitats. T. topitotum, según el modelo de máxima entropía, posee una alta capacidad de dispersión y estaría siendo favorecida, en cuanto a su asentamiento y propagación, por elementos climáticos como temperatura, precipitación y humedad, y factores como la altitud. Nuestros hallazgos son relevantes para la toma de decisiones de manejo y monitoreo del desplazamiento de especies nativas de anfípodos terrestres en la región.

ABSTRACT The land-hopper, Talitroides topitotum, is a talitrid amphipod distributed worldwide in subtropical and template regions, with a wide range of altitudinal distribution, temperature and humidity. Specimens were collected and processed since 2012 until 2016, by collection-filtration of wet substrates. Specimens were taxonomically identified using diagnostic phenotypic characteristics, and the developmental stage and sex were recorded. DNA was extracted from whole amphipods, followed by PCR of cytochrome oxidase subunit 1 and ribosomal RNA subunit 16S genes. Partial genetic sequences were obtained and a maximum-likelihood phylogenetic tree was calculated based on a GTR-GAMMA model. The analysis of potential distribution of T. topitotum was estimated using 19 bioclimatic variables. This study extends the previously reported distribution and elevations between 1900 and 595 m a.s.l. Thirty-nine localities were analyzed, where the following categories were registered: 1) T. topitotum is present, 2) terrestrial amphipods are not present, 3) T. topitotum is not present, but the native amphipod is present. The relative abundance of T. topitotum corresponds to adult females, a high proportion ofjuveniles and no males were collected. The bioinformatic analysis established the taxonomic position of T. topitotum within a group of terrestrial amphipods; moreover, the invasive species diverges of Cerrorchestia hyloraina, demonstrating the phylogenetic separation between these species that could be sharing habitats. Based on the model of maximum entropy, T. topitotum shows a high dispersion capacity and its establishment and propagation are been improved by climatic elements such as temperature, precipitation, humidity, and elevation. Our findings are relevant for management policies and monitoring the distribution of native species of terrestrial amphipods in the region.

Efectos emocionales del intento de suicidio de una niña de 10 años en los familiares con quienes reside en la ciudad de Medellín durante 2015-2016 / Emotional effects of the suicide attempt of a 10-year-old girl in the families with those who are residing in the city of medellín during 2015-2016

El artículo propuesto es el resultado del trabajo de grado para optar al título de Psicólogo en la Universidad Católica Luís Amigó, y hace referencia a los efectos emocionales del intento de suicidio de una niña de 10 años sobre los familiares con quienes reside en la ciudad de Medellín. El tema del suicidio y el intento de suicidio son una cuestión algo difícil de abordar, tanto para los directa como para los indirectamente implicados, entendiendo que no es fácil exponer los temas que aún y a pesar del tiempo de ocurrido el suceso son dolorosos y tabúes en las familias. No obstante, se logra realizar un trabajo de campo con una familia voluntaria a quienes se aborda a partir de una entrevista semiestructurada. La metodología que guía el desarrollo de esta investigación es cualitativa. En esta se pretende visualizar las percepciones, y emociones que genera el intento de suicidio de una menor en sus familiares, ya que la literatura provee poca información acerca de los menores de edad que intentan suicidarse, y aún menos información se encuentra sobre los efectos emocionales que estos intentos de suicidio traen sobre sus familiares. En este estudio de caso, se encuentra en la familia que reside con la menor que intentó suicidarse, su tía y bisabuela; efectos como el no querer hablar del tema, convertirlo en tabú y sentimientos de culpabilidad. Con respecto a los padres de la niña, se hace notable su ausencia en la vida de la menor y los conflictos que esto ha generado en ella.

The proposed article is the outcome of the bachelor thesis to qualify as a Psychologist in the "Universidad Católica Luis Amigó", and it refers to the emotional effects of the suicide attempt of a 10 year old girl and her relatives who live with her in Medellin city. Suicide itself is a very complicated topic to talk about, either for the direct victims as for non-direct ones, understanding that is not easy to talk about this despite of the time that has happened this issues and how painful it is plus the tabues in families. However, it is possible to perform field research with a volunteer family who is approached from a semistructured interview. The methodology to guide the development of this research is qualitative. With this research it pretend to visualize the perceptions, and the emotions that generates the attempt of committing suicide of a young girl in their relatives. Since that the literature provides not a lot of information about children that attempt to commit suicide, and even less information is found about the emotional effects that this suicide attempts bring over the relatives of this children. In this case study, it is in the family that resides with the least he attempted suicide, aunt and great grandmother; effects such as not wanting to talk about it, make it taboo and guilt. With regard to the parents of the child, it becomes noticeable absence in the life of the girl and the conflicts that has triggered it in her.

[Associated factors to non-operative management failure of hepatic and splenic lesions secondary to blunt abdominal trauma in children]. / Factores asociados a falla en el manejo no operatorio de lesiones hepáticas o esplénicas secundarias a trauma abdominal cerrado en niños.

INTRODUCTION: The non operative management (NOM) is the standard management of splenic and liver blunt trauma in pediatric patients.Hemodynamic instability and massive transfusions have been identified as management failures. Few studies evaluate whether there exist factors allowing anticipation of these events. The objective was to identify factors associated with the failure of NOM in splenic and liver injuries for blunt abdominal trauma. PATIENTS AND METHOD: Retrospective analysis between 2007-2015 of patients admitted to the pediatric surgery at University Hospital Saint Vincent Foundation with liver trauma and/or closed Spleen. RESULTS: 70 patients were admitted with blunt abdominal trauma, 3 were excluded for immediate surgery (2 hemodynamic instability, 1 peritoneal irritation). Of 67 patients who received NOM, 58 were successful and 9 showed failure (8 hemodynamic instability, 1 hollow viscera injury). We found 3 factors associated with failure NOM: blood pressure (BP) < 90 mmHg at admission (p = 0.0126; RR = 5.19), drop in hemoglobin (Hb) > 2 g/dl in the first 24 hours (p = 0.0009; RR = 15.3), and transfusion of 3 or more units of red blood cells (RBC) (0.00001; RR = 17.1). Mechanism and severity of trauma and Pediatric Trauma Index were not associated with failure NOM. CONCLUSIONS: Children with blunted hepatic or splenic trauma respond to NOM. Factors such as BP < 90 mmHg at admission, an Hb fall > 2 g/dl in the first 24 hours and transfusion of 3 or more units of RBC were associated with the failure in NOM.

The Break Up: Evaluation of an Anti-Smoking Educational Campaign for Lesbians, Gays, and Bisexuals in Los Angeles County.

Lesbian, gay, and bisexual (LGB) adults in the United States have a higher prevalence of smoking than their heterosexual counterparts. In 2013, the Los Angeles County Department of Public Health launched a social marketing and outreach campaign called Break Up to reduce the prevalence of smoking in LGB communities. Break Up was evaluated using cross-sectional, street-intercept surveys before and near the end of campaign. Surveys measured demographics, campaign awareness, and self-reported smoking-related outcomes. Bivariate statistics and logistic regression models were used to identify whether campaign awareness was associated with smoking-related outcomes. Calls by LGB persons to a smokers' helpline were also measured. Among those interviewed at endline, 32.7% reported Break Up awareness. Awareness was associated with thinking of quitting smoking and ever taking steps to quit but not with smoking cessation (defined as not smoking in the past 30 days among those who had smoked in the past 6 months). There was a 0.7% increase in the percentage of weekly calls by LGB persons to the helpline in the year after the campaign. Break Up reached about a third of its intended audience. The campaign was associated with smoking cessation precursors and may have led to an increase in helpline utilization, but there is no evidence it affected quit attempts. This study adds to the limited literature on tobacco programs for LGB persons and, as far as we know, is one of the first to evaluate tobacco-free social marketing in this important yet understudied population.

Factores asociados a falla en el manejo no operatorio de lesiones hepáticas o esplénicas secundarias a trauma abdominal cerrado en niños / Associated factors to non-operative management failure of hepatic and splenic lesions secondary to blunt abdominal trauma in children

Introducción: El manejo no operatorio (MNO) es el manejo estándar del trauma cerrado esplénico y hepático en el paciente pediátrico. Se han identificado como fallas a este manejo inestabilidad hemodinámica y transfusiones masivas. Pocos trabajos evalúan si existen factores que permitan una anticipación a estos eventos. El objetivo fue determinar la existencia de factores asociados a la falla en MNO de las lesiones esplénicas y/o hepáticas secundarias al trauma abdominal cerrado. Pacientes y Método: Análisis retrospectivo 2007 a 2015 de los pacientes que ingresaron al servicio de Cirugía infantil del Hospital Universitario San Vicente Fundación con trauma hepático y/o esplénico cerrado. Resultados: Ingresaron 70 pacientes con trauma cerrado de abdomen, 3 fueron excluidos por cirugía inmediata (2 inestabilidad hemodinámica y 1 irritación peritoneal). De 67 pacientes que recibieron MNO, 58 tuvieron éxito y 9 presentaron falla (8 inestabilidad hemodinámica y 1 lesión de víscera hueca). Encontramos 3 factores asociados a la falla MNO: presión arterial (PAS) < 90 mmHg al ingreso (p=0,0126; RR =5,19), caída de la Hemoglobina (Hb) > 2 g/dl en las primeras 24 h (p=0,0009; RR= 15,3), y transfusión de 3 o más unidades de glóbulos rojos (UGR) (0,00001; RR= 17,1). Mecanismo del trauma, severidad e Índice de Trauma Pediátrico no se asociaron con fallo MNO. Conclusiones: Los niños con trauma cerrado hepático o esplénico responden al MNO. Los factores como PA menor de 90 al ingreso, caída de la Hb >2 g/dl en las primeras 24 h y la transfusión de 3 o más UGR pueden asociarse con la falla en el MNO.

Introduction: The non operative management (NOM) is the standard management of splenic and liver blunt trauma in pediatric patients.Hemodynamic instability and massive transfusions have been identified as management failures. Few studies evaluate whether there exist factors allowing anticipation of these events. The objective was to identify factors associated with the failure of NOM in splenic and liver injuries for blunt abdominal trauma. Patients and Method: Retrospective analysis between 2007-2015 of patients admitted to the pediatric surgery at University Hospital Saint Vincent Foundation with liver trauma and/or closed Spleen. Results: 70 patients were admitted with blunt abdominal trauma, 3 were excluded for immediate surgery (2 hemodynamic instability, 1 peritoneal irritation). Of 67 patients who received NOM, 58 were successful and 9 showed failure (8 hemodynamic instability, 1 hollow viscera injury). We found 3 factors associated with failure NOM: blood pressure (BP) < 90 mmHg at admission (p = 0.0126; RR = 5.19), drop in hemoglobin (Hb) > 2 g/dl in the first 24 hours (p = 0.0009; RR = 15.3), and transfusion of 3 or more units of red blood cells (RBC) (0.00001; RR = 17.1). Mechanism and severity of trauma and Pediatric Trauma Index were not associated with failure NOM. Conclusions: Children with blunted hepatic or splenic trauma respond to NOM. Factors such as BP < 90 mmHg at admission, an Hb fall > 2 g/dl in the first 24 hours and transfusion of 3 or more units of RBC were associated with the failure in NOM.

Características clínicas de los pacientes menores de 18 años con atrofia muscular espinal en Medellín, 2008 - 2013 / Clinical characteristics of patients under 18 years-old with spinal muscular atrophy in Medellín, 2008 - 2013

Introducción: La atrofia muscular espinal (AME) es una enfermedad degenerativa que afecta las neuronas motoras del asta anterior de la médula espinal, se manifiesta por debilidad muscular progresiva de predominio proximal, hipotonía y arreflexia osteotendinosa, la etiología es una mutación en el gen de supervivencia neuronal SMN. Objetivo: determinar las características clínicas de los pacientes menores de 18 años con atrofia muscular espinal en de Medellín, durante el período 2008-2013. Materiales y métodos: se realizó un estudio descriptivo retrospectivo de los pacientes con AME que consultaron en el Hospital Universitario San Vicente Fundación y un consultorio privado de neuropediatría en Medellín durante el período 2008-2013, en total se recopilaron datos de 29 pacientes, se revisaron las características clínicas, las ayudas diagnósticas practicadas y los tratamientos realizados. Resultados: la AME tipo II resultó la forma clínica más frecuente (62%) seguida por la AME tipo I (24.13%), las principales manifestaciones fueron la hipotonía (100%) debilidad muscular (93.1%) y la arreflexia osteotendinosa (82.8%). Las fasciculaciones en la lengua se presentaron en el 48.3% de los pacientes. La prueba molecular fue realizada en 6 pacientes y en todos se encontró deleción del exón 7 del gen SMN1. Conclusión: la atrofia muscular espinal es una enfermedad degenerativa y de progresión variable de acuerdo a su clasificación. Clínicamente, se debe sospechar cuando exista síndrome motoneuronal y fasciculaciones linguales. El diagnóstico molecular es el método más acertado para confirmar la enfermedad.

Introduction: Spinal muscular atrophy (SMA) is a degenerative disease that affects motor neurons in the anterior horn of the spinal cord, it is manifested by progressive muscle weakness predominantly proximal, hypotonia andosteotendinous arreflexia, the cause is a mutation in neuronal survival gene SMN1 Objective: Establish the clinical, electromyographics and genetics characteristics of patients younger than 18 years with spinal muscular atrophy in the Medellín city, during the period 2008-2013. Materials and methods: A retrospective study of patients with SMA seen in the Hospital Universitario San Vicente Foundation and private center of Neuro- pediatric of Medellín during the period 2008-2013 was performed. Data from 29 patientes were available, were reviewed clinical feature, diagnostic aids and treatments practiced. Results: SMA type II resulted the most frequent clinical presentation (62%) followed by SMA type I (24.13%), the main manifestations were hypotonia (100 %), muscle weakness (93.1%) and osteotendinous arreflexia (82.8%), tongue fasciculations occurred in 48.3% of patients. The molecular test was performed in 6 patients and in all the deletion of exon 7 of the SMN1 gene was found. Conclusion: spinal muscular atrophy is a degenerative and progressive disease according to their clinical classification. It should be suspected when there are motoneuronal syndrome and lingual twitches. Molecular diagnosis is the most accurate to confirm the disease.

Costo del tratamiento en trabajadoras con enfermedad inflamatoria pelviana / Cost of treatment in workers with pelvic inflammatory disease

Se realizó una intervención terapéutica en 39 trabajadoras con inflamación pelviana, diagnosticadas y tratadas desde hacía 5 meses, pertenecientes al área de salud "La Caoba" del municipio de San Luís, en Santiago de Cuba, de enero a mayo del 2012, con vistas a comparar el costo del tratamiento medicamentoso con el del acupuntural. En la serie se obtuvo que 51,3 % de las féminas con medicación mejorara en 2 semanas y 23,1 % requirió más de 28 días de tratamiento, mientras que 90,0 % de las que recibieron acupuntura se recuperaron en 3 semanas. Esta terapéutica alternativa constituyó un ahorro para las pacientes, al disminuir sus pérdidas económicas por gastos en medicamentos y por certificados médicos; además de reducir la estadía hospitalaria y su costo. Desde el punto de vista social se logró que las trabajadoras afectadas se incorporaran a sus quehaceres laborales y domésticos más tempranament.

A therapeutic intervention was carried out in 39 workers with pelvic inflammation, diagnosed and treated for 5 months, belonging to the health area from "La Caoba" of San Luís municipality, in Santiago de Cuba, from January to May, 2012, with the aim of comparing the cost of drug treatment with that of the acupunctural treatment. In the series it was obtained that 51.3% of the female with medication improved in 2 weeks and 23.1% required more than 28 days of treatment, while 90.0% of those who received acupuncture recovered in 3 weeks. This alternative therapy constituted a saving for the patients, as they decreased their economic losses due to expenses in medications and to medical certificates; besides reducing the hospital stay and its cost. From the social point of view it was achieved that the affected workers incorporate to their jobs and domestic work even earlier.

Acceptable interventions to reduce syphilis transmission among high-risk men who have sex with men in Los Angeles.

OBJECTIVES: We examined perceptions of and attitudes toward existing and potential syphilis interventions, including case management and Web-based programs, to increase syphilis testing among high-risk men who have sex with men (MSM). METHODS: Between October 2010 and June 2011, we conducted in-depth interviews with 19 MSM in Los Angeles, California, with repeat early syphilis infections (primary, secondary, and early latent syphilis) within the previous 5 years. We analyzed the interviews inductively to determine the most acceptable potential interventions. RESULTS: Experiences with health department and community-based standard of care case management were generally positive. The most popular interventions among respondents included a Web site providing information on syphilis and syphilis testing, automated Web reminders to test, being paid to test, free online home testing kits, and preexposure prophylactic medication. Respondents' beliefs that they would continue to practice high-risk sexual behaviors reinforced their reasons for wanting increased accessibility and convenient testing strategies. CONCLUSIONS: Public health officials should consider participant responses to potential interventions for syphilis, which suggest that high-risk MSM would consider testing more often or using other interventions.