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The hemophagocytic syndrome (HS) or hemophagocytic lymphohistiocytosis (HLH) is a syndrome with apoptosis deficiency that results in the impairment of a regulatory pathway with consequent immune and inflammatory responses. Fever, cytopenias, splenomegaly, and hemophagocytosis are cardinal signs. It may be familial or secondary to infection, autoimmunity, or neoplasia. Impaired natural killer (NK)-cell cytotoxicity is the hallmark of HLH. All genetic defects in familial HLH are related to granule-dependent cytotoxicity. The authors present a 50-year-old black female patient with a history of drepanocytosis who attended the emergency department due to fever, asthenia, lethargy, and hypogastric pain. Her laboratory workup on admission revealed severe pancytopenia. She was ultimately diagnosed with HLH due to sepsis of urinary origin, with a fatal outcome. HLH is a rare and life-threatening syndrome. The delay in its diagnosis due to the variability of the clinical and laboratory findings constitutes the main obstacle to a successful prognosis, as illustrated in this case report., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Costa e Silva et al.)

Sickle cell disease (SCD) is one of the most common monogenic disease worldwide. The incidence of SCD is not strictly gender-related as it is transmitted as an autosomal recessive disorder. In particular, the gender-related differences in pediatric SCD are not well-characterized. To address this matter, we retrospectively analyzed the clinical records of 39 pediatric patients with a diagnosis of SCD (hemoglobin SS genotype) focusing on gender differences analyzing various aspects of the disease and comprising both acute symptoms and late complications. We found various gender-related differences in our pediatric population. In particular, pain crisis frequency per year was significantly increased in the male population with a mean number of crisis per year of 1.6 vs. 0.6 in the female population (p = 0.04). Also, severe complications (both infectious and cardiovascular) were mostly found in the male population. SCD-related late cardiac complications were observed mainly in the male population (p = 0.04). Our data support the hypothesis that gender could play a role in determining the clinical course of SCD, even though further studies are needed to assess the exact weight of its influence over the course of the disease. The higher morbidity in males is a well-known feature of SCD in adults and these findings have been only partially studied in the pediatric population. These differences have, in adults, been attributed to hormonal variations found in the two sexes after puberty. In a pediatric population, other factors must be responsible for these discrepancies. These findings suggest that gender could be a valuable factor in the risk stratification of these patients at diagnosis, and possibly guide therapeutic decisions, with the final aim of personalizing the therapy.

La drepanocitosis es la anemia hemolítica congénita más frecuente en Cuba. Sus manifestaciones clínicas fundamentales aparecen por eventos de oclusión vascular y acortamiento de la vida de los hematíes. En esta enfermedad pueden afectarse todas las estructuras anatómicas del ojo, órgano que ofrece la oportunidad única de observación del proceso vasooclusivo. El signo conjuntival más característico es la aparición de segmentos venulares poscapilares en forma de coma, que se consideran diagnósticos de la enfermedad, aunque no son patognomónicos, porque pueden encontrarse en otras hemopatías. La afectación del segmento anterior se caracteriza por inyección conjuntival, edema de la córnea y precipitados queráticos. Tardíamente hay atrofia y despigmentación del iris. Se ha reportado rubeosis iridiana. En el segmento posterior se ha descrito una gran variedad de lesiones que se producen por vasooclusión y que, en ocasiones, no conducen a la disminución de la visión ni requieren tratamiento específico. La retinopatía proliferativa de la drepanocitosis es más frecuente en enfermos con hemoglobinopatía SC; puede tener regresión espontánea y se diferencia de otras entidades con isquemia retiniana, en que sus lesiones generalmente se localizan hacia la periferia y no afectan la visión central del enfermo.Drepanocytosis is the most common congenital hemolytic anemia in Cuba. The onset of fundamental clinical manifestations is due to vascular occlusion and shortened red cell life. This disease may affect all the anatomical structures of the eye, the organ that may provide the only opportunity for seeing the vasocclusive process. The most characteristic signal is the onset of coma-like postcapillary venular segments that are considered as diagnosis of the disease, although they are not pathognomonic because they may be found in other hemopathies. The effect of the anterior segment is characterized by conjunctival injection, corneal edema and keratic precipitates. Later on, there is iris atrophy and depigmentation. Iris rubeosis has been reported. There have been described a wide variety of lesions caused by vasocclusion in the posterior segment; occasionally, they neither lead to decreased vision nor require specific treatment. Proliferative retinopathy of drepanocytosis is more frequently found in patients with hemoglobinopathy SC; it may have spontaneous regression and is different from other entities with retinal ischemia in that the lesions are generally located toward the periphery and do not affect the central vision of the patient.

Las enfermedades malignas asociadas a la anemia drepanocítica han sido reportadas previamente en un reducido número de pacientes, con el advenimiento de la terapia con hidroxiurea se ha observado un incremento en el riesgo de cáncer en estos enfermos; en nuestro caso clínico no se recoge el antecedente de ingestión de este medicamento. Paciente masculino de 25 años de edad, que acude con crisis hepática, con aumento de ictericia y bilirrubina a expensas de la directa, valores elevados de la transaminasa, hepatomegalia y caída de las cifras de hemoglobina a 40 g/L, blastos de un diámetro de 25 mc, granulares, algunos con núcleos de aspecto monocitoide, componente monocítico en periferia igual a 15%, conteo de leucocitos 120 x109/l,medulograma 80% de células blásticas, componente monocítico mayor del 20%, concluyéndose como Leucemia Mielomonocítica Aguda (LMA M4) según estudios citoquímicos diagnósticos además de un aumento de la lisozima y muramidasa superior a 13 mg lis/ml de plasma (Na acetatoesterasas ) positivo (NASA). Se realiza la plasmaféresis y la exanguinotransfusión haciendo dos recambios con amplia hidratación sin respuesta satisfactoria; el paciente fallece el tercer día del diagnóstico debido a Insuficiencia Respiratoria Aguda. Por lo inusual que resulta y por no existir casos reportados en la literatura Internacional de Síndrome Mieloproliferativo Agudo asociado a la Drepanocitosis no tratados con hidroxiurea, los autores presentan este caso clínico.Malignant diseases related to sickle-cell anemia have been previously reported in a reduced number of patients, the risk of suffering from cancer in those patients have increased with the advent of the hydroxyurea treatment. In this case no evidence of being taken this medication was proved. A 25-years old male presenting hepatic crisis, jaundice, hyperbilirubinemia, high levels of transaminase, hepatomegaly and low red blood cell counts (40 g/l), blast cells of 25 µm in diameter, granular cell presenting nucleus of monocytic-like cells (some of them), monocytic component in periphery equal to 15 %, leucocytes counts 120x10(9)/l, medullogram: 80 % of blast cells, monocytic component greater than 20 %, concluded as Acute Myelomonocytic Leukemia (AML M4) diagnostic cyto-chemical studies showed an increase of lysozyme and muramidase higher than 13 mg lis/ml of plasma (a positive Na acetatoesterases). A plasmapheresis and ex-transfusion and two rechanges, deep rehydration. No satisfactory response was observed and the patient died on the third day with a diagnose of acute respiratory insufficiency. Because of this unsual disorder and no other cases described by the medical literature as an Acute Myeloproliferative Syndrome in association to Drepanocytosis non-treated with Hydroxyurea motivated the authors to present this case report.

Background: Sickle cell anemia (SCA) or drepanocytosis is a fatal disease that is often diagnosed during adolescence. In Colombia, there are not early screening policies for SCA. Purpose: Report a case of SCA that was early diagnosed through clinical examination and radiographs. Case report: A 9-year-old African-Colombian girl attended the Antonio Nariño University dental clinic in Popayan, Colombia, with bleeding gums. The clinical examination showed 56.25% dental plaque (O'Leary Index), palatal paleness, and bleeding after probing. The radiographic analysis evidenced multilocular zones between incisor roots and left first molar, with a staircase trabecular pattern in the bone. Findings from hemogram and peripheral blood analysis showed light hypochromia and positive sickle cells. Conclusion: Even though oral clinical and radiographic findings are not pathognomonic of SCA, they are a useful to early diagnose and impr ove people quality of life and life expectancy. [ABSTRACT FROM AUTHOR]

Objectives: The aim of this study was to estimate the prevalence of anti-microbial resistance (AMR) carriage and its risk factors in hospitalized migrants. Additionally, the prevalence of infectious diseases was evaluated, as well as symptoms of psychological trauma. Methods: We conducted a retrospective monocentric cross-sectional study including all migrant patients recently arrived and hospitalised over a one-year period. Results: Among 101 patients, seventy-nine percent originated from Sub-Saharan Africa. The overall AMR carriage rate was 20.7% [95% CI: 12.4; 28.9%]. We isolated 5/92 methicillin-resistant Staphylococcus aureus strains (5.4%) and 15/92 extended-spectrum beta-lactamase-producing Enterobacteriaceae (16.4%). AMR carriage was associated with older age, region of origin and length of migration. Rates of HIV, HBV, and HCV infection were 39.6%, 32.7%, and 5%, reflecting sampling bias linked to reasons for hospitalization. Eleven percent had serological evidence of treponemasis and 7.8% had Chlamydia trachomatis infection. Symptoms of depression or post-traumatic stress disorder were observed for more than half the patients. Conclusion: It appears essential to offer a systematic and comprehensive post-arrival screening of AMR carriage, infectious diseases and psychological trauma to subjects who experienced migration., Competing Interests: The authors declare that they do not have any conflicts of interest., (Copyright © 2022 Stabler, Paccoud, Duchesne, Piot, Valin, Decré, Girard, Lalande, Lacombe and Surgers.)

Sickle Cell Disorder (SCD) is a congenital hemoglobinopathy. There is little in literature regarding the psychological variables affecting individuals living with SCD and all of the significant people around them. There are also limited numbers of trained clinical psychologists and genetic counselors to cater for the psychotherapeutic needs of individuals living with SCD. Even among those who have been trained, only a few might have fully grasped the complexities of the disease pathology. Early understanding of its pathological nature, sources, types, complications, pathophysiological basis, and clinical severity of symptoms among clinical psychologists, genetic counselors and psychotherapists, as well as general medical practitioners, could guide them in providing holistic care for dealing with and reducing pain among individuals living with SCD. It could allow risk-based counseling for families and individuals. It could also justify the early use of disease-modifying or curative interventions, such as hydroxyurea (HU), chronic transfusions (CTs), or stem-cell transplantation (SCT) by general medical practitioners. Hence, the need for this paper on the pathophysiology of SCD.

Abstract: Aim of the study: A survey was conducted in Lubumbashi city (Democratic Republic of Congo) in order to: (a) identify medicinal plants used by traditional healers in the management of sickle cell anaemia, (b) verify their antisickling activity in vitro, (c) determine the most active plants, and (d) verify if anthocyanins are responsible of the bioactivity and study their photodegradation effect. Materials and methods: The Emmel test was used in vitro, for the antisickling activity assays of aqueous and ethanolic extracts of different parts of these plants when a UV lamp and solar irradiations were used to induce the photodegradation effect. Results: The survey revealed that 13 medicinal plants are used in the treatment of drepanocytosis among which 12 plants exhibited the in vitro antisickling activity for at least one of the used parts or extracts. These plants are Bombax pentadrum, Bougainvillea sp., Byarsocarpus orientalis, Dalberigia bochmintaub, Diplorrhynbchus condolocarpus, Euphorbia heterophylla, Ficus capensis, Harungana madagascariensis, Parinari mobola, Pothmania witfchidii, Syzygium guineense, Temnocalys verdickii and Ziziphus mucronata of which four (Bombax pentadrum, Ficus capensis, Parinari mobola and Ziziphus mucronata) revealed a high antisickling activity. The biological activity of three of these plants is due to anthocyanins. The antisickling activity and photodegradation effect of anthocyanins extracts were studied and minimal concentration of normalization determined. The biological activity of Bombax pentadrum anthocyanins decreased to half of its value after 40min of irradiation under a lamp emitting at a wavelength of 365nm and after about 10h of solar irradiation. For Ziziphus mucronata and Ficus capensis, the antisickling activity decreased to half after about 6h under a lamp exposition and after about 50h of solar exposition. Conclusion: In vitro Antisickling activity justifies the use of these plants by traditional healers and this activity would be due to anthocyanins. But these natural pigments are instable towards UV-Visible irradiations. The conservation of these plants should then be performed in a shield from the sun radiation. [Copyright &y& Elsevier]

La drepanocitosis es la anemia hemolítica determinada genéticamente más frecuente en el mundo. En Cuba, la frecuencia del estado de portador es del 3,08 % en la población general. La fisiopatología de la oclusión vascular es muy compleja; involucra la polimerización de la Hb S, las alteraciones de la membrana del hematíe, las moléculas de adhesión, las citocinas inflamatorias, los factores de la coagulación y lesiones del endotelio vascular. Las manifestaciones clínicas más frecuentes son: las crisis vasooclusivas dolorosas, el síndrome torácico agudo, la crisis de secuestro esplénico, la crisis aplástica, la necrosis aséptica de la cabeza del fémur y la úlcera maleolar. El cuadro clínico es muy variable: desde niños que mueren temprano en la vida hasta pacientes que alcanzan la sexta década de la vida. En el Instituto de Hematología e Inmunología existe un Programa de Atención Integral que incluye: seguimiento sistemático desde temprano en la vida en una consulta especializada, la administración de ácido fólico de forma permanente y de penicilina oral profiláctica los primeros 5 años de la vida; así como la educación del niño y de sus padres. Desde 1986 se realiza esplenectomía parcial en la crisis de secuestro esplénico con excelentes resultados. Entre 2004-2008 fallecieron solamente 16 enfermos en todo el país y en 397 adultos la sobrevida fue de 53 años en la anemia drepanocítica y de 58 en la hemoglobinopatía SC. Como resultado de este programa, en los últimos años la sobrevida ha aumentado, la calidad de vida del paciente ha mejorado y han disminuido los costos invertidos en el tratamiento de las complicaciones.Drepanocytosis is the hemolytic anemia more frequent genetically determined in the world. In Cuba, the frequency of carrier status is of 3,08% in general population. The pathophysiology of vascular occlusion is very complex; includes the polymerization of the Hb S, the alterations of red-blood cells, the adhesion molecules, the inflammatory cytokines, the coagulation factors and the lesions of the vascular endothelium. The more frequent clinical manifestations are: painful vaso-occlusive crises, the acute thoracic syndrome, the splenic sequestration crisis, the aplastic crisis, the aseptic necrosis of femur head and malleolar ulcer. The clinical picture is very variable: from children dying early in life up to patients achieve the sixth decade of life. In the Institute of Hematology and Immunology there is an Integral Care Program including: systematic follow-up from early in life in a specialized consultation, permanent administration of folic acid and of prophylactic oral penicillin during the first 5 years of age; as well as the child education and of parents. From 1986 it is carried out the partial splenectomy in crises of splenic sequestration with excellent results. Between 2004-2008 in all the country deceased only 16 patients and in 397 adults the survival rate was of 53 years in the drepanocythemia and of 58 in the SC hemoglobinopathy. As result of this program, in past years the survival has increased, the quality of life of patient improved and the costs spent in treatment of complications has decrease.

A partir de la creación en 1966 del Instituto de Hematología e Inmunología (IHI), se abrieron nuevas perspectivas para el desarrollo e integración de estas especialidades en Cuba. Con el decursar de los años, estas posibilidades se han ido haciendo realidad y se han aportado diversos resultados que han permitido incrementar en nuestro país, los conocimientos sobre diferentes aspectos vinculados con estas especialidades. En el IHI se hace una selección periódica de los temas priorizados de investigación y con estos se confeccionan los planes de investigación a corto, mediano y largo plazo. Sobre esta base, en la última década se han establecido los objetivos priorizados y se han seleccionado los resultados científico-técnicos más relevantes. El presente artículo muestra la relación de estos resultados y describe la contribución de cada uno de ellos al desarrollo científico-técnico alcanzado por la institución durante la década 2000-2009.From the creation in 1996 of the Institute of Hematology and Immunology (IHI) new perspectives were opened for the development and integration of theses specialties in Cuba. In the course of time, these possibilities became reality yielding different features linked to these specialties. In the IHI a periodic selection is made of the priority subjects of research and with its use the short, medium and long-term research plans are designed. On this base during the past decade have been established the priority objectives and the more relevant scientific-technical results have been selected describing the contribution of each to scientific-technical development for our institution during 2000-2009.

La procreación en la mujer con hemoglobinopatía de tipo S constituye un grave problema de salud reproductiva que, en Cuba, ha requerido una atención sostenida, diferenciada y multidisciplinaria durante 25 años, con vista a lo cual se diseñó y aplicó un protocolo específico de trabajo médico integral en el territorio. En este artículo, sus autores exponen los resultados perinatales y su valor estadístico, considerados por ellos como muy satisfactorios, teniendo en cuenta lo descrito en las referencias consultadas sobre el tema.Procreation in women with hemoglobinopathy S-type is a serious reproductive health problem that in Cuba has required a sustained, differentiated and multidisciplinary care during 25 years, therefore a specific protocol of comprehensive medical work was designed and implemented in the territory. In this article the authors described the perinatal outcomes and their statistical value considered by them very satisfactory, taking into account what was described in the references on the topic.

Se estandarizó un método inmunoenzimático (ELISA) para la determinación de anticuerpos naturales anti banda 3 acoplando a placas Chemobond la proteína banda 3 obtenida a partir de la membrana de eritrocitos humanos mediante una combinación de cromatografía de intercambio aniónico y afinidad. Se emplearon 3 mg de la proteína banda 3 por pozo, lográndose un nivel de detección de 1 mg/mL de anticuerpo anti banda 3. Los resultados indican la utilidad del método para su empleo en la medición de los niveles de anticuerpos naturales anti banda 3 en pacientes con drepanocitosis, tanto en estado basal como en las crisis vasooclusivas dolorosas.An immunoenzimatic assay (ELISA) was standardized to determine the natural anti-band 3 antibodies by coupling with Chemobond plates the band 3 protein obtained from the membrane of human erythrocytes by a combination of affinity and anion exchange chromatography. 3 g of band 3 protein per well were used. A level of detection of 1 g/mL of anti-band 3 antibody was achieved. The results showed the usefulness of the method to measure the levels of natural anti-band 3 antibodies in patients with drepanocytes, both in basal state and in the painful vasocclusive crises.

Se purifica la proteína banda 3 a partir de membranas de eritrocitos humanos con rapidez y eficiencia, mediante una combinación de cromatografía de intercambio iónico en DEAE-celulosa y de afinidad mediante el empleo de una columna pCMB-Sepharose. La obtención de banda 3 permitirá investigar su posible participación en los fenómenos oclusivos en la drepanocitosisThe band 3 protein is purified starting form the membranes of human erythrocytes with celerity and efficiency by a combination of DEAE-cellulose ion-exchange and affinity chromatography by using a pCMB-Sepharose column. The obtention of band 3 will allow to investigate its possible participation in the occlusive phenomena in drepanocytosis

Se determinó la presencia de anticuerpos naturales anti banda 3 mediante un ensayo inmunoenzimático en microplacas acopladas con la proteína banda 3 en 14 pacientes con drepanocitosis, 4 con crisis vasooclusiva dolorosa y 10 en estado basal. Se demostró una disminución significativa (p = 0,000005) de los niveles de los anticuerpos naturales anti banda 3 en el total de los pacientes al compararlos con los controles normales, lo que puede estar relacionado con un consumo elevado de estos en el proceso de aclaramiento de eritrocitos con hemoglobina SS oxidados o senescentes. No se demostró diferencia estadística entre el grupo de pacientes en estado basal y aquellos con crisis vasooclusiva dolorosa, lo cual sugiere la posibilidad de que no haya participación de los anticuerpos naturales anti banda 3 en la modulación del fenómeno oclusivo que se produce en esta enfermedad. Se recomienda el estudio longitudinal de un número mayor de pacientes, que permita profundizar en este aspectoThe presence of natural anti-band 3 antibodies was determined by an immunoenzymatic assay in microplaques coupled with band 3 protein in 14 patients with drepanocytosis, 4 with painful vasoocclusive crisis and 10 in the basal state. It was proved a significant reduction (p = 0,000005) of the levels of natural anti-band 3 antibodies in all the patients on comparing them with the normal controls, which may be related to an elevated consumption of these in the clearance process of oxidized or senescent erythrocytes with hemoglobin SS. There was no statistical difference between the group of patients in the basal state and those with painful vasoocclusive crisis, which suggests that the natural anti-band 3 antibodies do not take part in the modulation of the occlusive phenomenon that is produced in this disease. The longitudinal study of a greater number of patients that allows to go deep into this apect is recommended

Se purificaron anticuerpos naturales anti banda 3 de la clase IgG mediante cromatografía de afinidad con un aceptable nivel de pureza, rapidez y eficiencia, a partir de una mezcla de inmunoglobulinas humanas de uso parenteral. La obtención de estos anticuerpos naturales anti banda 3 permitirá abordar estudios posteriores acerca de su posible participación y potencial terapéutico en el fenómeno de vasooclusión en la drepanocitosisNatural anti-band 3 IgG antibodies were purified by affinity chromatography with an acceptable level of purity, rapidity and efficiency, starting from a mixture of human immunoglobulins of paren teral use. The attainment of these natural anti-band 3 antibodies will allow further studies on their possible participation and therapuetic potential in the phenomenon of drepanocytosis vasoocclusion

La drepanocitosis (D) es un grupo de anemias hemolíticas congénitas que incluye: la anemia drepanocítica (SS): 60 % la hemoglobinopatía (SC): 30 % y la S/ß talasemia: 10 %. Son las anemias hemolíticas más frecuentes en el mundo. En Cuba, la incidencia del estado de portador es de 13,2 en negros, 4,1 en mestizos y 0,6 en blancos. En la población general alcanza el 3,08. La afectación del crecimiento y desarrollo en estos pacientes ha sido un tópico muy debatido, y se consideran como posibles causas relacionadas con esta alteración las disfunciones hormonales, las deficiencias nutricionales, los factores socioeconómicos y los trastornos del sistema osteoarticular. Se realiza una revisión sobre estos aspectos en la literatura nacional y extranjera. Se concluye que la deficiencia en el crecimiento parece estar relacionada con la hipoxia tisular causada por la anemia severa, los efectos agudos y crónicos de la vasoclusión, la disfunción endocrina asociada con la anemia, el bajo ingreso dietético, los requerimientos energéticos elevados y el bajo estado socioeconómico.Drepanocytosis is a group of congenital hemolytic anemias that includes drepanocytic anemia (SS): 60.0, hemoglobinopathy (SC): 30.0 and S/ß thalassemia: 10.0. These are the most frequent hemolytic anemias in the world. In Cuba, the incidence of the carrier state is of 13.2 % in black, 4.1 in mestizoes and 0.6 in white individuals. It reaches 3.08 % of the general population. The affectation of growth and development in these patients has been a very discussed topic and the hormonal dysfunctions, the nutritional deficiencies, the socioeconomic factors and the disorders of the osteoarticular system are considered as possible causes related to this alteration. A review of these aspects is made in national and foreign literature. It is concluded that growth deficiency may be related to tissue hypoxia caused by severe anemia, the acute and chronic effects of vasoocclusion, the endocrine dysfunction associated with anemia, a poor diet, the elevated energy requirements, and the low socioeconomic status.

El término banda 3 se refiere a un grupo de intercambiadores aniónicos (AE 0-3), que están presentes en la membrana de todas las células y organelos celulares, y que participan en diversas actividades fisiológicas, entre las que se destacan el intercambio bicarbonato/ cloruro, unión de IgG y remoción celular y el mantenimiento de la integridad celular. El AE 1 constituye el elemento central integral de un macrocomplejo proteico en el contexto de la organización de la membrana del eritrocito, que está constituido por 3 dominios con funciones estructurales y metabólicas específicas. Cambios estructurales de la banda 3 y la presencia de autoanticuerpos naturales anti banda 3 se han asociado con el envejecimiento celular y la generación del antígeno de senescencia celular (ASC). Se analiza el mecanismo de envejecimiento prematuro de los eritrocitos SS en la drepanocitosis a partir de la auto-oxidación aumentada de la hemoglobina, que trae como consecuencia alteraciones en la banda 3 y expresión del ASC, unión de IgG y la remoción de los eritrocitos SS mediante fagocitosis. Alteraciones en banda 3 se han observado también en enfermedades neurológicas como el Alzheimer, disquinesia idiopática familiar, epilepsias idiopáticas, así como en enfermedades cardiovasculares, señalándose la elevada mortalidad en el neonato con deficiencia total de banda 3The term band 3 refers to a group of anion exchangers (AE 0-3) that are present in the membrane of all cells and cellular organella and take part in diverse physiologic activities, among which the bicarbonate/ chloride exchange, the IgG binding and cellular removal , and the maintenance of cellular integrity stand out. AE1 is the central integral element of a protein macrocomplex in the context of the organization of the erythrocyte membrane that is composed of 3 domains with specific structural and metabolic functions. Structural changes of band 3 and the presence of natural anti band 3 antibodies have been associated with cellular aging and the generation of the senescent cell antigen (SCA). The mechanism of early aging of SS erythocytes in drepanocytosis is analysed starting from the augmented autooxidation of hemoglobin that brings about alterations in band 3 and SCA expression, IgG binding and the removal of SS erythrocytes by phagocytosis. Band 3 alterations have also been observed in neurological diseases, such as Alzheimer's disease, family idiopathic dischinesia, and idiopathic epilepsies, as well as in cardiovascular diseases. The high mortality in the newborn with total band 3 deficiency has been stressed

La vasooclusión en la drepanocitosis se considera una característica única entre las anemias hemolíticas, y aún cuando se han logrado avances en su conocimiento, las bases de su control y prevención permanecen parcialmente desconocidas. La idea de que el eritrocito falciforme induce el proceso vasooclusivo ha sido descartada, y no existe duda en la actualidad de que el fenómeno ocurre debido a la adhesión al endotelio de eritrocitos SS oxigenados, no deformados, al endotelio de las venas postcapilares, donde participan un número de moléculas de adhesión, presentes tanto en los eritrocitos SS como en el endotelio vascular, factores plasmáticos y un elemento de creciente importancia: la molécula banda 3 eritrocitaria (AE 1). La AE 1 forma parte de una familia de intercambiadores aniónicos (AE 0-3) presentes en todas las células y organelos celulares, que constituyen la proteína central integral de un macrocomplejo en la membrana del eritrocito. Producto de la auto-oxidación de la Hb S, la molécula AE 1 se agrega en la superficie del eritrocito SS y adquiere naturaleza adhesiva, que se reconocen por anticuerpos naturales de la clase IgG. Se destaca la importancia del control de los niveles de anticuerpos naturales anti banda 3, lo que pudiera confirmar o rechazar la idea de si la adhesión de los eritrocitos SS y posterior vasooclusión es el resultado de alteraciones en los niveles de los mencionados anticuerpos. Se analizan las potencialidades terapéuticas del estudio de la molécula banda 3 y los anticuerpos naturales anti banda 3 en la drepanocitosisVasoocclusion in drepanocytosis is considered a unique characteristic among hemolytic anemias and in spite of the advances attained in its knowledge, the bases of its control and prevention are partially unknown. The idea that the falciform erythrocyte induces the vasoocclusive process has been discarded and there is no doubt at present that the phenomenon occurs due to the adhesion of oxygenated non-deformed SS erythrocytes to the endothelium., to the endothelium of the postcapilary veins, where a number of adhesion molecules present both in the SS erythrocytes and in the vascular endothelium, plasmatic factors and an element of increasing importance, the erythrocyte band 3 molecule (AE1), participate. The AE1 is part of the family of anion exchangers (AE 0-3) present in all the cells and cellular organella that constitute the central integral protein of a macrocomplex in the erythrocyte membrane. As a result of the auto-oxidation of Hb S, the AE1 molecule is added to the surface of the SS erythrocyte and acquires an adhesive nature that is known as natural IgG antibodies. It is stressed the importance of the control of the levels of natural anti-band 3 antibodies, which may confirm or reject the idea that the adhesion of SS erythrocytes and posterior vasocclusion is the result of alterations in the levels of the above mentioned antibodies. The therapeutic potentialities of the study of the band 3 molecule and the natural anti-band 3 antibodies in the drepanocytosis are analyzed.

Abstract: Renal medullary carcinoma is an aggressive malignant tumour, recently reported in the literature. It is usually reported in the relatively young patients with drepanocytic trai. Histologically, the tumour is constituted by a tumoral proliferation with diffuse or glandular architecture and inflammatory stroma. The carcinomatous cells have plasmocytoid or rhabdoid aspect. We report a case of 40 years old man who presented macroscopic hematuria. Through this observation and the review of the literature we discuss the anatomoclinical and the prognostic aspects of this exceptional tumour. [Copyright &y& Elsevier]

Sickle cell disease (SCD) is one of the most common monogenic disease worldwide. The incidence of SCD is not strictly gender-related as it is transmitted as an autosomal recessive disorder. In particular, the gender-related differences in pediatric SCD are not well-characterized. To address this matter, we retrospectively analyzed the clinical records of 39 pediatric patients with a diagnosis of SCD (hemoglobin SS genotype) focusing on gender differences analyzing various aspects of the disease and comprising both acute symptoms and late complications. We found various gender-related differences in our pediatric population. In particular, pain crisis frequency per year was significantly increased in the male population with a mean number of crisis per year of 1.6 vs. 0.6 in the female population ( p = 0.04). Also, severe complications (both infectious and cardiovascular) were mostly found in the male population. SCD-related late cardiac complications were observed mainly in the male population ( p = 0.04). Our data support the hypothesis that gender could play a role in determining the clinical course of SCD, even though further studies are needed to assess the exact weight of its influence over the course of the disease. The higher morbidity in males is a well-known feature of SCD in adults and these findings have been only partially studied in the pediatric population. These differences have, in adults, been attributed to hormonal variations found in the two sexes after puberty. In a pediatric population, other factors must be responsible for these discrepancies. These findings suggest that gender could be a valuable factor in the risk stratification of these patients at diagnosis, and possibly guide therapeutic decisions, with the final aim of personalizing the therapy., (Copyright © 2019 Ceglie, Di Mauro, Tarissi De Jacobis, de Gennaro, Quaranta, Baronci, Villani and Palumbo.)

Background: Drepanocytosis is a genetic blood disorder characterized by red blood cells that assume an abnormal, rigid, sickle shape. In the pathogenesis of vaso-occlusive crises of sickle cell disease, red blood cells bind to the endothelium and promote vaso-occlusion. At the surface of these sickle red blood cells, the overexpressed protein Lutheran strongly interacts with the Laminin 511/521. The aim of this study is to identify a PPI inhibitor with a high probability of binding to Lutheran for the inhibition of the Lutheran-Laminin 511/521 interaction., Methods: A virtual screening was performed with 395 601 compounds that target Lutheran. Prior validation of a robust docking and scoring protocol was considered on the protein CD80 because this protein has a binding site with similar topological and physico-chemical characteristics and it also has a series of ligands with known affinity constants. This protocol consisted of multiple filtering steps based on docked scores, molecular dynamics simulations, post-screening scores, and molecular properties., Results: A robust docking and scoring protocol was validated on the protein CD80 with the docking program DOCK6 and the secondary scoring function XSCORE. We identified four molecules for Lutheran that have good structural and physico-chemical properties., Conclusion: We took advantage of the similarities between the binding site of Lutheran and that of the protein CD80 to set up a robust docking and scoring protocol. Our protocol for primary scoring filtering, molecular dynamics simulation filtering, secondary scoring filtering, and molecular property filtering allows discarding most of the ligands with four compounds that are promising candidates for inhibiting the Lutheran-Laminin 511/521 interaction., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.)

Purpose Sickle cell disease is known to cause various degrees of vasculopathy, including impact on heart function. The aims of this single-centre, retrospective study were to assess cardiac chamber size and function and the relationship with haematological indices such as haemoglobin, aspartate aminotransferase, reticulocytosis and bilirubin, lactate dehydrogenase in sickle cell disease., Methods: Right ventricle and left ventricle diastolic diameters, left ventricle mass estimate, left ventricle shortening fraction, myocardial performance index, and an index of myocardial relaxation (E/E') were calculated and correlated with haematological parameters., Results: A total of 110 patients (65% haemoglobin SS, 29% haemoglobin SC) were studied at a mean age of 12.14±5.26 years. Right ventricle dilatation and left ventricle dilatation were present in 61.5 and 42.9%, respectively. Left ventricle mass was abnormal in 21.9%; all patients had normal myocardial performance index, 31.4% had abnormal E/E', and left ventricle shortening fraction was low in 38.1%. Cardiac dilatation was best correlated with haemoglobin, aspartate aminotransferase, reticulocytosis and bilirubin. Best subset regression analysis yielded significant additional prediction for right ventricle or left ventricle dilatation with haemoglobin, bilirubin, and lactate dehydrogenase. Abnormal E/E' was solely predictable with haemoglobin level. Hydroxyurea-treated patients had improved diastolic function., Conclusion: Right ventricle dilatation was more prevalent than left ventricle dilatation. The long-term consequences of right ventricular dilatation, clinical consequences, and association with pulmonary vasculopathy need to be further determined.