Determination of leucocyte extracellular traps (ETs) in seminal fluid (ex vivo) in infertile patients-A pilot study.

Leucocytospermia has been associated with loss of sperm function. Extracellular traps (ETs) of leucocytes are produced during innate immune response. ETs can be activated by spermatozoa in contact with polymorphonuclear (in vitro), inducing sperm entrapment and decrease motility. In this pilot study, we describe the results of ETosis ex vivo, in seminal fluid (SF) smear of infertile patients, associating ETs with leucocytospermia and bacteriospermia. In 21 infertile patients, semen parameters (WHO, 2010), microbiological study, leucocytospermia and presence of ETs in SF were determined. Leucocytes (CD45, CD15 and CD68) were evaluated by immunostaining in SF smears. Indirect immunofluorescence (global histone and H4-citrullinated 3) and scanning electron microscopy (SEM) were used to determine ETs morphology. In 28.6% of patients presented leucocytospermia without bacteriospermia, all of them presented a large number of ETs in the SF smears examined. About 76.6% of the patients without leucocytospermia were positive for ETs. Samples with leucocytospermia have a higher number of ETs and would be related to the amount of leucocytes in the SF. The morphological predominant ETs were diffuse (diffETs) and spread (sprETs). The formation of ETs indicates leucocyte activation in semen, and it was observed that ETosis does not depend exclusively on the presence of bacterial contamination.

Association of Leukocyte Telomere Length and Mitochondrial DNA Copy Number in Children from Salamanca, Mexico.

AIM: The purpose of this study was to determine if there is a correlation between telomere length (TL) and mitochondrial DNA copy number (mtDNAcn) in children. METHODS: Leukocyte TL and mtDNAcn were measured by real-time PCR in 98 Mexican children 6-12 years of age from Salamanca, México. RESULTS: A positive association was found between TL and mtDNAcn after a natural log transformation (Pearson correlation r = 0.72; p < 0.0001). No correlation between age and body mass index (BMI) biomarkers was found, and no differences according to sex were observed. After adjustment for these variables, a linear regression model showed an association between TL and mtDNAcn (ß = 0.739, 95% confidence interval 0.594; 0.885, p < 0.0001). CONCLUSIONS: A strong positive correlation between TL and mtDNAcn was found in the study population; age, sex, and BMI seemed to have no effect on this correlation.

Morphometry to identify subtypes of leukocytes.

INTRODUCTION: Recent studies in image cytometry evaluated the replacement of specific markers by morphological parameters. The aim of this study was to develop and evaluate a method to identify subtypes of leukocytes using morphometric data of the nuclei. METHOD: The analyzed images were generated with a laser scanning cytometer. Two free programs were used for image analysis and statistical evaluation: Cellprofiler and Tanagra respectively. A sample of leukocytes with 200 sets of images (DAPI, CD45 and CD14) was analyzed. Using feature selection, the 20 best parameters were chosen to conduct cross-validation. RESULTS: The morphometric data identified the subpopulations of the analyzed leukocytes with a sensitivity and specificity of 0.95 per sample. CONCLUSION: The present study is the first that identifies subpopulations of leukocytes by nuclear morphology.

Generation of reactive oxygen species by leukocytes of Prochilodus lineatus.

Prochilodus lineatus (curimbatá), from the Procholodontidae family, is a Brazilian freshwater fish, which is important commercially, nutritionally and ecologically. It is encountered in the Rio da Prata Bay in Southern South America. Studies on the immune system of this fish are scarce, but the physiological mechanisms of the species are analogous to those of other vertebrates. Thus, this work discusses the present study, which correlates P. lineatus leukocytes and the generation of reactive oxygen species after modulatory stimuli. Leukocytes were characterized by light and electron transmission microscopy and investigated by the generation of H2O2 and O2 (-), using phenol red, flow-cytometry and electron transmission histochemistry. The study determined that monocytes and neutrophils are the main cells responsible for generating O2 after stimulation with phorbol myristate acetate. Superoxide dismutase successfully inhibited the generation of reactive oxygen species in neutrophils and monocytes, but stimulated generation when in association with phorbol myristate acetate. Fish leukocyte samples from P. lineatus showed cross-reactivity with antibodies directed against human NADPH-oxidase antibody subunits (p47(phox) and p67(phox)). Thus, catalase enhanced the presence of p47(phox). Neutrophil mitochondria were shown to be generators of H2O2 (charged by cerium precipitate), being enlarged and changing their format. The present study contributes to a better understanding of the respiratory burst pathways in this species and suggests mitochondria as the organelle responsible for generation of reactive oxygen species.

Cytochemical, immunocytochemical and ultrastructural observations on leukocytes and thrombocytes of fat snook (Centropomus parallelus).

The cytochemical, immunocytochemical and ultrastructural characteristics of leukocytes and thrombocytes in the peripheral blood of the fat snook (Centropomus paralellus) - a fish occurring in Brazil - were investigated. The cytochemical methods were performed to demonstrate four enzymatic reactions - o-toluidine-hydrogen peroxide, naphtol AS-MX phosphate, naphtol AS-BI phosphate and alpha-naphtil acetate to detect myeloperoxidase (MPO), alkaline phosphatase (ALP), acid phosphatase (ACP) and non-specific esterase (α-NAE), respectively - and two non-enzymatic ones - Periodic-Acid Schiff (PAS) and Sudan black B (SBB) to detect the occurrence of glycogen and phospholipids, respectively. Immunocytochemical method utilizing polyclonal rabbit antibody against mammal metalloproteinases (MMPs) 2 and 9 were done. Standard method for Electron Microscopy (EM) was applied for the ultrastructural study. The cytochemical reactions were positive in neutrophils for MPO, ACP, α-NAE, glycogen and phospholipids; in lymphocytes for ACP and α-NAE; in monocytes for ACP and α-NAE and in thrombocytes for ACP, α-NAE and glycogen. Only neutrophils were positive for MMPs 2 and 9, and none of the cells studied were positive for ALP. Ultrastructurally: 1) neutrophil showed a spherical shape with a spherical, indented or lobulated euchromatic nucleus, and cytoplasm containing granules of varied sizes and mitochondria of varied shapes and sizes. The nucleus/cytoplasm relation and the size of granules suggest neutrophil maturation in peripheral blood; 2) lymphocytes showed partially heterochromatic nucleus and minimal cytoplasm; 3) monocytes had long cytoplasmic projections, an indented nucleus, evident nucleolus and cytoplasm with granules of varied sizes and vacuoles; 4) thrombocytes were predominantly elliptical or roughly spherical in shape, had a partially heterochromatic nucleus and cytoplasm containing electron-dense granules, intricate canalicular system and vacuoles occasionally holding phagocytic material.

Intravital microscopy to study leukocyte recruitment in vivo.

The intravital microscopy is a valuable tool to capture images of cells in living organisms and to make studies of molecular determinants of leukocyte trafficking easier. Using this technique, we can directly visualize and measure each step of the leukocyte recruitment paradigm, including leukocyte rolling flux, rolling velocity, adhesion, and emigration. Thus, it is possible to understand the process involved in leukocyte homing as well as the cell recruitment to inflammatory tissues. Nowadays, two types of intravital microscopy are used routinely. The light microscopy is used to assess migration of intravascular cells in thin, tissues which must be sufficiently translucent. Epifluorescence microscopy allows the visualization of the microcirculation while permitting the distinction of leukocyte subpopulations in solid organs.

Ultrastructural evidences for endothelial cell - leukocytes interactions: margination and migration / Evidencias ultraestructurales de las interacciones células endoteliales - leucocitos: marginación y migración

Leukocyte-endothelial cell interactions have a pivotal role in immune responses. In our study Ten adult Wistar albino rats weighing 180-200 g were used to obtain tissue samples. The animals were sacrificed by decapitation under ether anesthesia. The lymph nodes of the animals were then quickly removed. Specimens were immersed in the zinc iodide-osmium tetroxide (ZIO) solutation by Niebauer et al. (1969) and kept in the dark for 2 hours in this solution from temperature for fixation/staining. Samples were processed according to routine plastic embedding tecnique. Semi thin sections of 1µm thick were cut and stained with methilene blue-azure II for light microscopic examination. We used zinc iodide-osmium tetroxide staining technique to distinguish endothelial cell from leukocytes. Present data supports the understanding of this unique relationship as documented by figures.

Las interacciones entre células endoteliales y leucocitos tienen un papel fundamental en la respuesta inmune. Se utilizaron 10 ratas albinas Wistar, adultas, con peso entre 180-200 g, para obtener muestras de tejido. Los animales fueron sacrificados por decapitación bajo anestesia con éter. Inmediatamente, los nodos linfáticos de los animales fueron removidos. Las muestras se sumergieron en tetraóxido de osmio-yoduro de zinc (ZIO), solución de Niebauer et al. (1969), manteniéndose en oscuridad durante 2 horas, a temperatura de fijación/tinción. Las muestras fueron tratadas de cuerdo a la rutina de la técnica de inserción en plástico. Para el examen microscópico de luz, se tiñeron con Azur-II - Azul de metileno secciones de corte semifinos de 1µm de grosor. Se utilizó la técnica tinción tetraóxido de osmio-yoduro de zinc para distinguir las células endoteliales de los leucocitos. Los datos presentados apoyan la comprensión de esta relación única.

Leukocyte ultrastructure, hematological and serum biochemical profiles of ostriches (Struthio camelus).

In the last decade ostrich farms spread throughout the world as an alternative source of investment. Although previous studies have reported hematology and biochemical values for ostriches from several regions of the world, little information is available regarding leukocyte morphology. This study reports the morphology and ultrastructure of ostrich leukocytes and hematology and biochemical values from birds raised in Brazil. Heterophils presented a lobulated nucleus, and fusiform, and acidophilic and peroxidase-negative granules. Ultrastructurally, 2 kinds of cytoplasmic granules were observed: one was large and fusiform and the other smaller with heterogeneous morphology and electrondensity; granules were peroxidase-negative. Eosinophils had a kidney-shaped eccentrically placed nucleus that was rarely lobulated and eosinophilic, round, and peroxidase-positive granules. At the ultrastructure level, 2 main kinds of granules with the same size and form but different electron density were seen; granules were peroxidase-positive. Lymphocytes and thrombocytes had the same characteristics of other avian species; monocytes presented morphological heterogeneity. Hematological and serum biochemical profiles had no sex influence and were established for ostriches raised in southeastern Brazil. These parameters will help the diagnosis of specific ostrich pathologies and serve as basic knowledge for studies in immunology and comparative avian pathology.

Effects of different peep levels on mesenteric leukocyte-endothelial interactions in rats during mechanical ventilation.

INTRODUCTION: Mechanical ventilation with positive end expiratory pressure (PEEP) improves oxygenation and treats acute pulmonary failure. However, increased intrathoracic pressure may cause regional blood flow alterations that may contribute to mesenteric ischemia and gastrointestinal failure. We investigated the effects of different PEEP levels on mesenteric leukocyte-endothelial interactions. METHODS: Forty-four male Wistar rats were initially anesthetized (Pentobarbital I.P. 50 mg/kg) and randomly assigned to one of the following groups: 1) NAIVE (only anesthesia; n=9), 2) PEEP 0 (PEEP of 0 cmH2O, n=13), 3) PEEP 5 (PEEP of 5 cmH2O, n=12), and 4) PEEP 10 (PEEP of 10 cmH2O, n=13). Positive end expiratory pressure groups were tracheostomized and mechanically ventilated with a tidal volume of 10 mL/kg, respiratory rate of 70 rpm, and inspired oxygen fraction of 1. Animals were maintained under isoflurane anesthesia. After two hours, laparotomy was performed, and leukocyte-endothelial interactions were evaluated by intravital microscopy. RESULTS: No significant changes were observed in mean arterial blood pressure among groups during the study. Tracheal peak pressure was smaller in PEEP 5 compared with PEEP 0 and PEEP 10 groups (11, 15, and 16 cmH2O, respectively; p<0.05). After two hours of MV, there were no differences among NAIVE, PEEP 0 and PEEP 5 groups in the number of rollers (118+/-9,127+/-14 and 147+/-26 cells/10 minutes, respectively), adherent leukocytes (3+/-1,3+/-1 and 4+/-2 cells/100 microm venule length, respectively), and migrated leukocytes (2+/-1,2+/-1 and 2+/-1 cells/5,000 microm(2), respectively) at the mesentery. However, the PEEP 10 group exhibited an increase in the number of rolling, adherent and migrated leukocytes (188+/-15 cells / 10 min, 8+/-1 cells / 100 microm and 12+/-1 cells / 5,000 microm(2), respectively; p<0.05). CONCLUSIONS: High intrathoracic pressure was harmful to mesenteric microcirculation in the experimental model of rats with normal lungs and stable systemic blood pressure, a finding that may have relevance for complications related to mechanical ventilation.

Maté attenuates DNA damage and carcinogenesis induced by diethylnitrosamine and thermal injury in rat esophagus.

Drinking hot maté has been associated with risk for esophageal cancer in South America. Thus, the aims of this study were to evaluate the modifying effects of maté intake on DNA damage and esophageal carcinogenesis induced by diethylnitrosamine (DEN) and thermal injury (TI) in male Wistar rats. At the initiation phase of carcinogenesis, rats were treated with DEN (8 x 80 mg/kg) and submitted to TI (water at 65 degrees C, 1 ml/rat, instilled into the esophagus). Concomitantly, the animals received maté (2.0%w/v) for 8 weeks. Samples of peripheral blood were collected 4h after the last DEN application for DNA damage analysis. At weeks 8 and 20, samples from esophagus and liver were also collected for histological and immunohistochemical analysis. Maté significantly decreased DNA damage in leukocytes, cell proliferation rates in both esophagus and liver and the number of preneoplastic liver lesions from DEN/TI-treated animals at week 8. A significant lower incidence of esophageal papillomas and liver adenomas and tumor multiplicity was observed in the animals previously treated with maté at week 20. Thus, maté presented protective effects against DNA damage and esophageal and liver carcinogenesis induced by DEN.

Ultrastructural findings in semen samples of infertile men infected with Chlamydia trachomatis and mycoplasmas.

The aim of this study was to describe the ultrastructural features observed in semen samples of men with infertility and subfertility of unknown cause infected with Chlamydia trachomatis and mycoplasmas. The findings observed by ultrastructure included destruction or persistence of bacteria in leukocytes, phagocytosis of spermatozoa by leukocytes, and structural damage of spermatozoa.

Effects of different peep levels on mesenteric leukocyte-endothelial interactions in rats during mechanical ventilation

INTRODUCTION: Mechanical ventilation with positive end expiratory pressure (PEEP) improves oxygenation and treats acute pulmonary failure. However, increased intrathoracic pressure may cause regional blood flow alterations that may contribute to mesenteric ischemia and gastrointestinal failure. We investigated the effects of different PEEP levels on mesenteric leukocyte-endothelial interactions. METHODS: Forty-four male Wistar rats were initially anesthetized (Pentobarbital I.P. 50mg/kg) and randomly assigned to one of the following groups: 1) NAIVE (only anesthesia; n=9), 2) PEEP 0 (PEEP of 0 cmH2O, n=13), 3) PEEP 5 (PEEP of 5 cmH2O, n=12), and 4) PEEP 10 (PEEP of 10 cmH2O, n=13). Positive end expiratory pressure groups were tracheostomized and mechanically ventilated with a tidal volume of 10 mL/kg, respiratory rate of 70 rpm, and inspired oxygen fraction of 1. Animals were maintained under isoflurane anesthesia. After two hours, laparotomy was performed, and leukocyte-endothelial interactions were evaluated by intravital microscopy. RESULTS: No significant changes were observed in mean arterial blood pressure among groups during the study. Tracheal peak pressure was smaller in PEEP 5 compared with PEEP 0 and PEEP 10 groups (11, 15, and 16 cmH2O, respectively; p<0.05). After two hours of MV, there were no differences among NAIVE, PEEP 0 and PEEP 5 groups in the number of rollers (118±9,127±14 and 147±26 cells/10minutes, respectively), adherent leukocytes (3±1,3±1 and 4±2 cells/100µm venule length, respectively), and migrated leukocytes (2±1,2±1 and 2±1 cells/5,000µm², respectively) at the mesentery. However, the PEEP 10 group exhibited an increase in the number of rolling, adherent and migrated leukocytes (188±15 cells / 10 min, 8±1 cells / 100 µm and 12±1 cells / 5,000 µm², respectively; p<0.05). CONCLUSIONS: High intrathoracic pressure was harmful to mesenteric microcirculation in the experimental model of rats with normal lungs and ...

Morphological Characterization of the Leukocytes in Circulating Blood of the Turtle (Phrynops hilarii) / Caracterización Morfológica de Leucocitos Circulantes en la Sangre de la Tortuga (Phrynops hilarii)

The Phrynops hilarii specie of turtle has its characterization not well defined in the literature, it was proposed in this study the leukocyte characterization of the blood, stained by Leishman and analyzed under light and transmission electron microscope. It was not observe any cellular type with similar characteristics to neutrophils in mammalian group. We believed, based on the data obtained in this study that the heterophils have a morphofuncional analogy with another neutrophils belonged to mammalian group. This conclusion is being supported in many recent studies found in the literature.

La especie de tortuga Phrynops hilarii no ha sido aún bien descrita en la literatura. Fue propuesto en este estudio la caracterización de leucocitos de sangre de este animal coloreados con el método de Leishman y analizados con microscopías de luz y electrónica. No fue observado ningún tipo celular con características similares a los neutrófilos de mamíferos. Los resultados indican que los heterófilos tienen analogía morfofuncional con otros neutrófilos presentes en el grupo de los mamíferos. Esta conclusión es sustentada por varios estudios recientes encontrados en la literatura.

Duplication 2p and monosomy 8p in mosaicism: clinical, molecular cytogenetic and molecular markers of a unique case.

We report on a female patient, with a de novo mosaicism for a structural rearrangement producing trisomy 2p21-->pter and monosomy 8p21-pter. GTG bands and fluorescence in situ hybridization (FISH) in lymphocytes identified: mos 46,XX,der(8)(8qter-->8p21::p21::2p21-->pter),9qh +[52]/ 46,XX,9qh+[82]. Fibroblasts showed the same cell lines in 15 and 12 cells respectively. DNA profiling with fourteen autosomal STR markers, did not reveal a chimerism status in our patient. She did not present the classical phenotype described for trisomy 2p and for monosomy 8p probably due to approximately 60% of the patient's cells being normal. The abnormality probably arose in a very early stage of development during the first post-fertilization divisions with a non-sister chromatid exchange event between chromosomes 2 and 8 producing three cellular clones: a normal clone, one with trisomy 2p and monosomy 8p and a third with monosomy 2p and trisomy 8p. Only the first two cell lines were found in both lymphocytes and fibroblasts of hypopigmented skin; the third may have been lost or limited to other tissues.

Leukocyte lipid bodies regulation and function: contribution to allergy and host defense.

Lipid bodies are lipid-rich organelles found in the cytoplasm of a variety of cells, including leukocytes. Lipid body morphology, its ability to interact with other organelles and its functions are dictated by its lipid arrangement, as well as its protein composition. Both may vary according to the cell type and with the specific lipid body biogenic stimulatory pathways. Nascent lipid bodies, which are formed in vivo in the course of a variety of immunopathological conditions, are sites of enzyme localization, eicosanoid production, as well as, sites for cytokine storage in inflammatory leukocytes, suggesting that lipid bodies function as inducible intracellular platforms for spatial segregation and organization of signaling leading to inflammatory mediator secretion during inflammation. The emerging role of lipid bodies as inflammatory organelles raises lipid body status to critical regulators of different inflammatory diseases, key markers of leukocyte activation and attractive targets for novel anti-inflammatory therapies.

Morphological, cytochemical, and ultrastructural study of thrombocytes and leukocytes in neotropical fish, Brycon orbignyanus Valenciennes, 1850 (Characidae, Bryconinae).

Morphological, cytochemical and ultrastructural studies are important to demonstrate the function of the blood cells, which is very little understood in teleosts. In peripheral blood of 'piracanjuba' Brycon orbignyanus, thrombocytes, lymphocytes, monocytes, neutrophils and heterophils were studied and characterized. Thrombocytes had a fusiform or oval shape with PAS-positive granules. Lymphocytes presented small size with sparse basophilic cytoplasm. Monocytes were large in size, presented basophilic cytoplasm that may be foamy or vacuolated, with non-specific esterase staining. The neutrophils presented lightly neutrophilic granule cytoplasm, with positivity for PAS and peroxidase. The heterophils were large in size, with eosinophilic and basophilic granules cytoplasm and PAS-positive. Transmission electron microscopy study demonstrated that the thrombocytes, lymphocytes and monocytes features were similar to other teleosts. In ultrastructural study only one type of neutrophils was observed. Cytochemical findings indicated that neutrophils and monocytes of B. orbignyanus may be involved in phagocytosis, and neutrophils play an important microbicidal role.

Conjunctival impression cytology in dogs.

OBJECTIVE: Ocular conjunctivas of healthy dogs were studied by conjunctival impression cytology for evaluation of feasibility, protocol standardization, and normal cytologic pattern recognition of this technique. ANIMALS STUDIED: Twenty healthy, adult, cross-breed dogs. PROCEDURES: Samples of the bulbar conjunctiva were collected after instillation of topical anesthetic drops at the ocular surface. Impression cytology was performed by applying asymmetric strips of Millipore filter on the superior temporal bulbar conjunctiva near the limbus. The filter strip was gently pressed against the conjunctiva for 5 s and removed with a peeling motion. Samples were immediately fixed in 95% ethyl alcohol, stained with periodic acid-Schiff and hematoxylin, and mounted on slides cover-slipped using synthetic resin. The slides were examined by light microscopy. RESULTS: Microscopic examination of the impressions revealed superficial, intermediate and basal epithelial cells arranged in sheets. Keratinized epithelial cells, goblet cells and leukocytes, as well as cellular debris and mucus were observed. CONCLUSIONS: Feasibility of impression cytology for sampling the bulbar conjunctiva of the dog and the standardization the the proposed protocol was shown. The results allowed the recognition the the normal cytologic pattern of healthy conjunctivas in dogs.

Ultrastructural alterations in human blood leukocytes induced by porcine circovirus type 1 infection.

BACKGROUND: Swine infectious pathogens, especially viruses, represent a potential public health risk associated with the use of pig tissues for xenotransplantation in humans. We hypothesized that porcine circovirus type I (PCV-1) may infect human mononuclear cells, resulting in ultrastructural alterations of the target cells. METHODS: Transmission electron microscopy was used for evaluating ultrastructural alterations of human cells exposed to a PCV-infected PK15 cell line. A polymerase chain reaction (PCR) assay and fluorescence in situ hybridization (FISH) were developed for detecting PCV-1 in human mononuclear cells. RESULTS: Morphological alterations of the human T cells exposed to PCV PK15 showed ''boomerang-shaped'' intracytoplasmic inclusions. Nucleocapsids appeared free, close to the nucleus, or contained into cytoplasmic vacuoles. Virions were observed near the surface of the human cells. A considerable number of mature virions and immature forms could be observed in the human cells that had a completely intact nuclear membrane with no alteration in the disposition of chromatin. PCV-1 particles were identified budding into typical Golgi saccules and vacuoles. Virions sized up to 23 nm in diameter, and appeared in the nucleus and in the periphery of the cellular core. PCV-1 infection was detected on CD4+, CD8+, CD14+, CD19+, and CD56+ human cells by PCR assay and FISH. CONCLUSIONS: These results suggest that PCV has the capability of infecting human leukocytes in vitro, and should be considered a potential risk of viral transmission during xenotransplantation.

An Enterobacter cloacae toxin able to generate oxidative stress and to provoke dose-dependent lysis of leukocytes.

We investigated an Enterobacter cloacae strain exhibiting high hemolytic and leukotoxic activity. Monomeric and polymeric forms of the toxin showed similar effects on blood cells, although the polymer was more active than the monomer. Fluorescence microscopy revealed that both forms of the FITC-labeled toxin interacted with leukocytes, principally with neutrophils. Prelytic concentrations of polymeric and monomeric toxin significantly increased the production of reactive oxygen species (ROS) in neutrophils. Conversely, lytic concentrations of both toxin forms showed an increase followed by a decrease of ROS due to neutrophil damage. Monocytes did not show oxidative stress at all the toxin concentrations assayed. The toxin-neutrophil interaction at prelytic concentrations of toxin-stimulated ROS production and led to oxidative stress with subsequent cell death by apoptosis. However, high concentrations of E. cloacae toxin damaged leukocytes, producing lysis before the trigger of apoptosis, which suggests that the toxic effect is concentration dependent. The inhibition of oxidative stress observed with genistein and chloroquine suggests a potential involvement of the tyrosine kinase and nitric oxide synthesis pathways in E. cloacae toxin-mediated elevation of ROS.

Sebastian syndrome: report of the first case in a South American family.

The Sebastian syndrome (SS) is a MYH9-related disorders, which are an extremely infrequent group of four autosomal dominant illnesses. SS consist of giant platelets, leukocyte inclusions and thrombocytopenia. To our knowledge, there are no case reports of this syndrome in South America. The propositus was a 35-year-old Argentine woman with a history of purpuric lesions in her lower limbs and thrombocytopenia. Idiopathic thrombocytopenia purpura (ITP) was previously diagnosed, but she did not respond to treatment with steroids. Family history failed to provide any evidence of hearing loss, easy bruising, nephritis, renal failure or cataracts. The patient and 11 members of her family were evaluated. The diagnosis of SS was established by demonstrating giant platelets, thrombocytopenia and leukocyte inclusions in peripheral smear in two relatives and by peripheral smear and electronic microscopy in the propositus. MYH9-related disorders should be suspected whenever a patient has a low platelet count or a bleeding diathesis of unknown origin. In these cases, the history, carefully peripheral smear exam, immunocytochemistry and electronic microscopy will be of great help. Differentiation ITP with SS is important to avoid unnecessary diagnostic studies and treatments.