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A 2 -year-old girl presented to us with recurrent infections, hepato splenomegaly, and photophobia. On examination she had blond hair with a metallic sheen. The blood smear showed giant lysosomes in the white blood cells (fi gure) and we diagnosed Chediak-Higashi syndrome, a rare autosomal recessive disease (gene CHS1/LYST at 1q42.1-2). There have been around 200 cases reported, and giant cytoplasmic granules are pathognomonic. Death often occurs before the age of 7 years because of the so-called accelerated phase, with hepatosplenomegaly, lymphadenopathy, and pancyto penia or severe recurrent bacterial infections.

Preoperative risk stratification in cancer surgery is important to improve treatment and outcome. Sarcopenia is defined by progressive and generalized loss of skeletal muscle mass and strength and is now getting attention as a poor prognostic factor. The purpose of this review was to explore the impact of sarcopenia on short and long-term outcomes in patients undergoing surgical resection of gastrointestinal tumors. Recent studies suggest that sarcopenia contributes to postoperative complications and overall survival. The relatively simple evaluability, as well as its modifiable nature, provides an intriguing potential for sarcopenia to be included in standard preoperative clinical evaluation. Such evaluations can provide physicians with important information to target high-risk individuals with prophylactic measures and eventually improve surgical outcomes.

ABSTRACT.A cytogenetic study was carried out in a girl with virilized external genitalia, who showed a �aryotype containing a � isochro-, who showed a �aryotype containing a � isochroshowed a �aryotype containing a � isochroa �aryotype containing a � isochromosome in mosaic form: mos46,X,iso(�)(qter→p11.3::p11.3→qter) [80]/45,X[17]/46,X,+mar [3]. �he chromosome aberrations were con�he chromosome aberrations were confirmed by fluorescence in situ hybridization analysis, with both whole chromosome paint � probe and centromeric X chromosome probe. �he molecular analyses by PCR detected the presence of the SR�, DAZ and AMGY genes, confirming the presence of the whole long arm and almost whole short arm of the � chromosome. We suggest that the structural alteration of the � chromosome was a new mutation, which occurred in the initial mitotic divisions of the embryo, originally 46,X�. �he brea�points occurred on the distal extremity of the short arm with later fusion of its extremities producing a � isochromosome. �he later numerical alteration occurred as a consequence of chromosomal instability. Although almost all cells (80%) in peripheral blood belonged to the iso(�) line with a duplicated SR� gene, this did not determine male sexual differentiation in the patient. �he result of accurate evaluation provides correct sex assignment and the prevention of the neoplastic degeneration of a dysgenetic gonad.

Background  Colorectal cancer is one of the most common types of cancer and is associated with a high lethality rate. Treatment is multidisciplinary, and neoadjuvant chemoradiation is recommended in locally advanced rectal cancer. About 15% of patients answer favorably to neoadjuvant chemoradiation, so it is important to determine the predictors of response. Objective  To review the results of studies that analyzes the predictors of complete pathological response to neoadjuvant chemoradiation in patients with locally advanced rectal cancer. Search methods  We searched for eligible articles in data bases Pubmed and Scopus, between the 12th and the 20th of March 2020. The following key words were used: “predictors of response”, “chemoradiation” and "locally advanced rectal cancer”. Selection criteria  Inclusion criteria: Studies including patients with locally advanced rectal cancer, patients receiving neoadjuvant chemoradiation as treatment, studies including predictors of response to neodjuvant chemoradiation, overall survival as an outcome and regarding language restrictions, only articles in English were accepted, only studies published until the 31st of December 2019 were accepted. Main results  Fourteen studies fulfilled the inclusion criteria. Thirteen are cohort studies and one is a clinical trial. Four groups of predictors were defined: blood markers, tumors, histopathological and patients’ characteristics. Author's conclusions  During the analysis of the articles, there were several predictors identified as potential candidates for clinical practice, such as high pre neoadjuvant chemoradiation Carcinoembryonic Antigen levels and small post neoadjuvant chemoradiation tumor size. Nevertheless, it is difficult to make definitive conclusions about the most reliable predictors. That is why it is crucial to initiate further studies with standardized cut-off values and a methodology homogenization.

Automated cell counters often produce spuriously low platelet counts due to laboratory artifacts. These in vitro phenomena may lead to erroneous treatments, surgical delays, and unnecessary platelet transfusions. An overlooked case of newly developed anticoagulant-induced platelet aggregation diagnosed in a preoperative visit is discussed and diagnostic clues are presented.

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