Monocyte-macrophage System Research Articles

Terrestrosin D from Tribulus terrestris attenuates bleomycin-induced inflammation and suppresses fibrotic changes in the lungs of mice

Context: Terrestrosin D (TED), from Tribulus terrestris L. (Zygophyllaceae), exhibits anti-tumour and anti-inflammatory activities. However, its effects on bleomycin (BLM)-induced pulmonary inflammation and the subsequent fibrotic changes remain unclear.Objective: To examine the anti-inflammatory and anti-fibrotic effects of TED against BLM in murine pulmonary tissues.Materials and methods: Male SPF mice received saline (control), TED (10 mg/kg), BLM (2.5 mg/kg), or BLM (2.5 mg/kg) + TED (10 mg/kg) group. BLM was administered as a single intranasal inoculation, and TED was intraperitoneally administered once daily. After 2 and 6 weeks of treatment, cell number and differentiation (Giemsa staining) and TNF-α, IL-6, IL-8, TGF-β1, and PDGF-AB levels (ELISA) were determined in the bronchoalveolar lavage fluid (BALF). Hydroxyproline (Hyp) content in the left pulmonary tissue was also determined (ELISA). The right pulmonary tissue was H&E-stained and assessed for the severity of pulmonary fibrosis using the Ashcroft scoring method. Compared with the BLM group, TED decreased inflammatory cell infiltration; number of macrophages (p < 0.05), neutrophils (p < 0.05), lymphocytes (p < 0.05); percentage of macrophages in the monocyte-macrophage system (p < 0.05), and levels of TNF-α (p < 0.01), IL-6 (p < 0.01), IL-8 (p < 0.05), TGF-β1 (p < 0.05), and PDGF-AB (p < 0.05) in the BALF. TED also reduced Hyp content (p < 0.05) in the pulmonary tissue and attenuated the BLM-induced deterioration in lung histopathology.Discussion and conclusions: TED can inhibit BLM-induced inflammation and fibrosis in the lungs of mice, which may be related to reduced inflammatory and fibrotic markers. These results could be further tested in humans through clinical studies.

Fever, pulmonary interstitial fibrosis, and hepatomegaly in a 15-year-old boy with Gaucher disease: a case report

BackgroundGaucher disease is an autosomal recessive disorder resulting from the accumulation of glucocerebroside in the cells of the macrophage-monocyte system caused by deficiency in lysosomal glucocerebrosidase. Intravenously administered enzyme replacement therapy is the first-line therapy for Gaucher disease type 1 and substrate reduction therapy represents an alternative oral treatment. Here is a rare case report of Gaucher disease in South China.Case presentationOur patient was a 15-year-old Han Chinese boy presenting with fever, edema, and gradually increasing abdominal girth. A physical examination revealed obvious hypoevolutism and hepatomegaly, and laboratory tests and imaging examinations showed severe pulmonary interstitial fibrosis, infection, and moderate anemia. A final diagnosis of Gaucher disease was confirmed after examining the splenic pathological section derived from a splenectomy performed 6 years ago. His recovery improved after receiving anti-infection, diuresis, blood transfusion, and hepatoprotection and so on. However, enzyme replacement therapy was not adopted by our patient because his family could not afford it.ConclusionA rare case of Gaucher disease is reported here to emphasize the importance of early recognition by clinical manifestation and histological findings. Gaucher disease should be considered in the differential diagnosis of children with unexplained symptoms of multiple systems.

EFFICIENCY, SAFETY AND POSSIBILITIES OF IMMUNOTROPIC THERAPY AFTER SURGICAL TREATMENT OF ENDOMETRIOSIS

The identification of the immune system disorders along with the impact on the causative agent and correction of such disorders is of great importance in the therapy of patients with endometritis. It has been established that the infectious agents are eliminated by the phagocytic system cells, therefore the optimal choice for the activation of anti-infective immunity are the immunomodulators acting on the monocyte-macrophage system cells. Use of immunomodulators: recombinant human interleukin-2 (Roncoleukin®, IL-2) and Interferon alfa-2b + Taurine + Benzocaine (Genferon®) in combination with the standard therapy showed its safety and efficiency in treating patients with endometritis after caesarean section.

Langerhans Cell Histiocytosis as Cause of Central Diabetes Insipidus: Case Report

AbstractLangerhans cell histiocytosis (LCH) is a rare disease of the monocyte-macrophage system, characterized by the aberrant proliferation of specific dendritic cells. The clinical presentation ranges from a single bone lesion to widespread multiorgan involvement. This disease is usually considered to be a disease of childhood; however, the diagnosis is frequently made in adulthood. The course of the disease is fairly unpredictable and varies from spontaneous resolution to progress into a debilitating form, which compromises the vital functions with occasional fatal consequences. Langerhans cell histiocytosis exhibits a predilection for the hypothalamic-pituitary-axis, with diabetes insipidus being the most common endocrine consequence related to the disease, which may be prior to diagnosis or develop at any time during the course of the disease. The diagnosis of LCH should be based on histologic and immunophenotypic examination of a lesional biopsy, although other testing may be done, depending on the symptoms. There is no established, widely agreed-upon treatment of LCH, in general. The treatment depends upon the individual patient and the extent and areas of involvement. The present article aims to describe the case of a 26-year-old male patient whose symptoms started with a headache and occipital bone lesion that progressed later with diabetes insipidus.

Mexican consensus on lysosomal acid lipase deficiency diagnosis

IntroductionLysosomal acid lipase deficiency (LAL-D) causes progressive cholesteryl ester and triglyceride accumulation in the lysosomes of hepatocytes and monocyte-macrophage system cells, resulting in a systemic disease with various manifestations that may go unnoticed. It is indispensable to recognize the deficiency, which can present in patients at any age, so that specific treatment can be given. The aim of the present review was to offer a guide for physicians in understanding the fundamental diagnostic aspects of LAL-D, to successfully aid in its identification. MethodsThe review was designed by a group of Mexican experts and is presented as an orienting algorithm for the pediatrician, internist, gastroenterologist, endocrinologist, geneticist, pathologist, radiologist, and other specialists that could come across this disease in their patients. An up-to-date review of the literature in relation to the clinical manifestations of LAL-D and its diagnosis was performed. The statements were formulated based on said review and were then voted upon. The structured quantitative method employed for reaching consensus was the nominal group technique. ResultsA practical algorithm of the diagnostic process in LAL-D patients was proposed, based on clinical and laboratory data indicative of the disease and in accordance with the consensus established for each recommendation. ConclusionThe algorithm provides a sequence of clinical actions from different studies for optimizing the diagnostic process of patients suspected of having LAL-D.

A retrospective analysis of seven patients with acquired immunodeficiency syndrome and pharyngeal and/or laryngeal Talaromyces marneffei infection.

1.Talaromyces marneffei, formerly known as Penicillium marneffei, usually affects the monocyte-macrophage system and can cause fatal systemic mycosis in immunocompromised individuals. This retrospective study is the first to describe the clinical and endoscopic (nasal endoscopy, flexible endoscopy) features of penicilliosis with pharynx and/or larynx infection in patients with acquired immunodeficiency syndrome (AIDS). 2.During the study period, 126 patients were diagnosed with penicilliosis. Among them, only seven who presented with culture and/or histopathological evidence of pharyngeal and/or laryngeal T. marneffei infection were included; notably, all of these patients also had AIDS. 3.The most common specific pharyngeal and laryngeal features were sore throat, hoarseness, dysphagia, a pharyngeal and laryngeal mass and/or mucosal ulcerations, and enlargement of multiple cervical and axillary lymph nodes. Evaluation using nasal endoscopy and flexible endoscopy revealed pharyngeal and laryngeal ulcers and/or a mass. 4.Histopathological analysis of all pharyngeal and/or laryngeal tissue samples in our retrospective study revealed positivity for T. marneffei. The most common pathological type was non-reactive necrosis. 5.Histopathology and fungal culture of pharyngeal and laryngeal secretions and tissues are important and safe methods that allow determination of an accurate etiological basis for penicilliosis with pharyngeal and/or laryngeal infection, as well as differentiation from other diseases such as tuberculosis, lymphoma, pharyngeal cancer, and Kaposi's sarcoma. This article is protected by copyright. All rights reserved.

MECHANISMS OF INCREASED RESISTANCE TO INFECTION IN THE EARLY PHASE OF SEPSIS IN MICE AFTER ACUTE INTOXICATION WITH ORGANOPHOSPHORUS COMPOUNDS

It was established in experiments on random-bred albino mice that the reduction of mortality of mice from sepsis and decrease of pro-inflammatory cytokines (TNF- , IL-1 , IL-6 ) concentrations in blood after acute intoxication with organophosphorus compounds (OPCs) is due to the implementation of the cholinergic antiinflammatory pathway: activation of muscarinic acetylcholine receptors m1 and 7n-acetylcholine receptors of the monocyte macrophage system. The anti-inflammatory effect after acute intoxication with OPCs is also associated with excitation of the sympathetic nervous system, 2 adrenergic receptors on T-lymphocytes, macrophages and monocytes and the subsequent reduction of pro-inflammatory cytokines in blood.

Liver involvement in Gaucher disease – Review and clinical approach

Gaucher disease (GD), one of the most prevalent lysosomal storage diseases, is associated with glucocerebroside accumulation in cells of the monocyte-macrophage system in various organs, including the liver.Evaluating and managing liver disease in patients with Gaucher disease may be challenging. While hepatic involvement is common in Gaucher disease, its severity, and clinical significance span a wide spectrum, ranging from sub-clinical involvement to liver cirrhosis with its associated complications including portal hypertension. Apart from liver involvement in Gaucher disease, patients with may also suffer from other comorbidities involving the liver. That Gaucher disease itself can mimic hepatic lesions, affect laboratory tests used to characterize liver disease, and may be associated with non-cirrhotic portal hypertension, complicates the diagnostic approach even more.Better understanding of liver involvement in Gaucher disease can spare patients unnecessary invasive testing, and assist physicians in decision making when evaluating patients with Gaucher disease suspected for significant liver disease.This review describes the various clinical manifestations, laboratory and imaging abnormalities that may be encountered when following patients with Gaucher disease for liver involvement. The mechanism for liver disease are discussed, as well as the possible hepato-protective effect of glucocerebroside, and the a diagnostic and treatment approaches.

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family.

&: The first two authors contributed equally. ∗Corresponding author: Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Email: miryounesi@sbmu.ac.ir ermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder which is characterized by oculocutaneous albinism, bleeding, and lysosomal ceroid storage resulted from deficiencies in multiple cytoplasmic organelles including melanosomes, platelet-dense granules, and lysosomes (1). A wide variation has been detected in the phenotypes of patients suffering from this disorder. The amount of pigmentation of the skin, hair, iris and fundus is markedly different among patients with HPS from an almost total absence of pigment to a nearly normal amount. Pigmentation degree possibly increases with age (2). Although the bleeding tendency is mild in these patients, certain evaluations are necessary before any surgery to prevent life-threatening complications (2). Ceroid deposition in these patients would result in pulmonary fibrosis and granulomatous colitis (3) with the former being the main cause of death in HPS after 1 year of age (4). No generalized defect has been detected in peripheral blood lymphocyte or neutrophil function in a group of studied HPS patients (5). However an association has been observed between HPS and lupus or frequent bacterial infections which is attributed to a defect within the monocyte-macrophage system, possibly secondary to ceroid accumulation and decreased activity of natural killer cells, respectively (6). Several genetic loci have been shown to be associated with different types of HPS. Among them is the HPS1 gene associated with HPS1 (OMIM #203300) which encodes a transmembrane protein that is believed to be a component of multiple cytoplasmic organelles and is critical for their normal development and function (1). Accordingly, it is a part of a protein complex that controls the intracellular localization of lysosomes and late endosomes and participates in the biogenesis of lysosome-related organelles complex as well as melanosome biogenesis (7). Here we report a 22-year-old patient presented with generalized skin hypopigmentation, brown hair, reduced visual acuity, photophobia, and nystagmus. He reported a history of easily bruising with minor trauma, without any history of internal organ bleeding. His parents were consanguineous (Figure 1). No symptom or sign of pulmonary H Submmited 9 May 2016; Accepted 11 June 2016; Published 3 July 2016

Evaluation of bone marrow with particular consideration of the megakaryocyte lineage and coagulation profile in the pregnant fallow deer (Dama dama).

The aim of the study was to evaluate the megakaryocyte lineage of bone marrow and coagulation parameters in fallow deer during the last month of pregnancy. The animals were managed in the barn-feeding system. Twenty female fallow deer, aged 2-3 years, divided into 2 groups were used in the study. Group 1 comprised the females in the last month of pregnancy, and the non-pregnant females were used as the control. All the animals were clinically healthy. Coagulation parameters were measured in all the deer: thrombin time (TT), prothrombin time (PT), activated partial thromboplastin time (APTT), and plasma concentrations of fibrinogen, D-dimer, and antithrombin III. A quantitative assessment of bone marrow was carried out for the erythroblastic, myeloid, lymphoid, monocyte-macrophage, and megakaryopoietic cell lines. A detailed analysis of megakaryocyte lineage was performed after whole blood and platelet count. There were no significant differences in the erythroblast, granulocyte, monocyte-macrophage and lymphoid systems between the animal groups. Thrombocyte count in the pregnant deer was lower than that found in the control group. Bone marrow smears revealed a slightly decreased megakaryocyte count, while the megakaryoblast and promegakaryocyte counts were unchanged. The analysis of coagulation parameters showed increased levels of fibrinogen, thrombin time, prothrombin time and activated partial thromboplastin time in the pregnant animals. The study suggested a hyperactivation of the coagulation system with a slight reduction in the megakaryocyte count in bone marrow, and a reduction in platelet count in peripheral blood at the end of pregnancy.

Electron microscopic analysis of regional lymph nodes in the process of cancer development

Aim. To study regional lymph nodes ultrastructure at different cancer stages, determine the reactive changes dynamics and identify the factors contributing to the inadequate local immune response and spread of tumor.Methods. The regional lymph nodes obtained from 149 cancer patients during surgery for cancer of various localization were studied. Lymph nodes obtained from 32 apparently healthy individuals who died of accidental causes were used as a control. One part of lymph node, cut in two parts along the major axis, was used for the histological sections preparation, the second - for electron microscopy. A comparative study of the following groups of preparations was conducted: (1) lymph nodes of the control group; (2) lymph nodes without metastases in stage I cancer; (3) lymph nodes without metastases in stage II cancer; (4) the affected lymph nodes in the II and III stages with various volume metastasis.Results. Ultrastructural changes in the regional lymph nodes in the process of cancer development have a certain dynamics: amid increasing microcirculation disorders and sclerotic processes, redistribution of immune cells and the immune reactions shift to B-cell humoral immunity occurs, resulting in the later stages to inactivation of T-cell-mediated immune reactions and macrophage-monocyte system, while maintaining plasmacytic reaction with high antibody-producing ability of the cells.Conclusion. Factors, contributing to inadequate local immune response are: (a) a progressive decrease in the number of activated (immune) lymphocytes - main cytotoxic anticancer elements, in cancer development; (b) high amount of antibody-producing plasma cells, which can block T-cell cytotoxic effect by humoral antibodies, at all stages of cancer development; (c) decrease of the number of migrated (free) macrophages of monocytic origin and the fixed macrophages - sinuses reticular cells, phagocytic activity decrease; (d) the sclerotic processes and microcirculatory disorders that impede tumor cells and cytotoxic lymphocytes contact.

Gaucher's Disease - A case report

Gaucher's Disease (GD) is an autosomal recessive systemic lysosomal storage disorder which is characterized by glucocerebroside deposition in cells of the macrophage-monocyte system as a result of a deficiency in lysosomal P-glycosidase (glucocerebrosidase). GD is a rare genetic disorder. It is the most common amongst the lysosomal storage disorders. GD has been categorised into three types based on the presence of central nervous involvement1. Type 1 is a non-neuronopathic form that presents in childhood or early adulthood. Type 2 is acute neuronopathic form that presents in childhood. It progresses rapidly and is fatal. Type 3 is chronic non-neuronopathic form that presents in childhood but is slowly progressive. Here we describe a case of a three and a half year old male child in whom a diagnosis of Gaucher's disease was made based on bone marrow biopsy and later confirmed by glucocerebrosidase levels estimation.

Gaucher's Disease - A case report

Gaucher's Disease (GD) is an autosomal recessive systemic lysosomal storage disorder which is characterized by glucocerebroside deposition in cells of the macrophage-monocyte system as a result of a deficiency in lysosomal P-glycosidase (glucocerebrosidase). GD is a rare genetic disorder. It is the most common amongst the lysosomal storage disorders. GD has been categorised into three types based on the presence of central nervous involvement1. Type 1 is a non-neuronopathic form that presents in childhood or early adulthood. Type 2 is acute neuronopathic form that presents in childhood. It progresses rapidly and is fatal. Type 3 is chronic non-neuronopathic form that presents in childhood but is slowly progressive. Here we describe a case of a three and a half year old male child in whom a diagnosis of Gaucher's disease was made based on bone marrow biopsy and later confirmed by glucocerebrosidase levels estimation.

Perianal presentation of Langerhans cell histiocytosis

Abstract Langerhans cell histiocytosis (LCH) is a rare and heterogeneous disease caused by clonal proliferation of Langerhans cells which are one of the members of the monocyte macrophage system. The incidence of LCH in adults is extremely rare: 1–2/million. Symptoms include dermatological lesions, typically seen as seborrheic-like dermatitis of the scalp, in addition to petechial lesions in intertriginous areas. Perianal ulcerative lesions are an extremely rare type of skin manifestation. Herein, we report a case of perianal presentation of LCH in an adult patient.

Pleural tuberculosis in a patient with untreated type 1 Gaucher disease

Gaucher disease (GD) is an autosomal recessive glycolipid storage disorder, due to deficiency of the lysosomal enzyme glucocerebrosidase, leading to accumulation of the substrate glucocerebroside in the cells of the macrophage-monocyte system. Patients with GD have alteration in their immune system and impaired microbicidal capacity of mononuclear phagocytes. It has also been demonstrated that monocyte dysfunction may correlate with the plasma glucocerebrosidase concentrations. Tuberculosis (TB) is a major public health problem in developing countries. Pleural TB is one of the most common forms of extra-pulmonary TB. Since immune system can be impaired due to the deficiency of glucocerebrosidase in various ways, TB can be observed in patients with GD especially when left untreated. Cytopenia(s) is also general finding in untreated Gaucher patients, and they may be observed most frequently due to the infiltration of the bone marrow with Gaucher cells together with the additional factor of splenomegaly. We herein present a case of an adult patient with heterozygous untreated GD1, who developed pleural TB complicated by ipsilateral pulmonary fibrosis. Before his admission to our clinic, pleurectomy operation was performed and 4-drug combination anti-TB therapy was initiated including isoniazid, rifampicin, ethambutol and pyrazinamide. Fever complaint was disappeared with anti-TB treatment but he also had fatigue and pain. After initiation of enzyme replacement therapy in addition to anti-TB treatment, clinical and hematological improvement was observed. To our knowledge, this is the first reported case of GD1 with pleural TB.

Risk factors for pegylated liposomal doxorubicin-induced palmar-plantar erythrodysesthesia over time: assessment of monocyte count and baseline clinical parameters.

Pegylated liposomal doxorubicin (PLD) is widely used in relapsing ovarian carcinoma. Its original formulation is metabolized by the monocyte-macrophage system. One of its main toxicities is the palmoplantar erythrodysesthesia (PPE) syndrome. To date, no predictive factors of PPE have been identified. Data of patients (pts) treated with PLD between 2005 and 2014 were retrospectively collected. A case-control study was performed, comparing main baseline clinical and biological characteristics of pts experiencing PPE and those who did not, after at least three cycles of PLD. A pilot analysis of blood monocyte subpopulations (classical, intermediate and non-classical) was performed by FACS in selected pts. Among 88 pts treated with PLD, 28 experienced PPE of any grade (31, 95 % CI 21-41). The first occurrence of PPE was at first cycle in only 11 % of pts, peaked at cycle 2 (32 %) and represented 57 % of cases after cycle 3. Baseline characteristics of pts with PPE were compared to 27 control pts who received at least 3 cycles. Older pts represented 61 % of pts with PPE and 15 % of pts without PPE (p = 0.04 by Chi-square test). Monocyte count and inflammatory parameters were not associated with PPE. However, the analysis of monocyte subpopulations revealed a large inter-patient variability. Contrary to most acute toxicities, PPE occurred more frequently after several cycles, suggesting a PLD body accumulation through repeated cycles. PPE was more frequent in pts older than 70 years. Monocyte subpopulations may have different roles on PLD metabolism and warrant further studies.

Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease.

The purpose of this article is to review eliglustat tartrate, a substrate reduction therapy, for the treatment of Gaucher disease type 1 (GD1). GD is an rare inborn error of metabolism caused by accumulation of lipid substrates such as glucosylceramide within the monocyte-macrophage system that affects the body by causing enlargement of the spleen and liver, destruction of bone, and abnormalities of the lungs and blood, such as anemia, thrombocytopenia, and leukopenia. GD is classified into three types: GD1, a chronic and non-neuronopathic disease accounting for 95% of GD cases; and types 2 and 3 (GD2 GD3) which are more progressive diseases with no approved drugs available at this time. Treatment options for GD1 include enzyme replacement therapy and substrate reduction therapy. Eliglustat works by inhibiting UDP-glucosylceramide synthase, the first enzyme that catalyzes the biosynthesis of glycosphingolipids, thus reducing the load of glucosylceramide influx into the lysosome. Eliglustat was approved by the US Food and Drug Administration after three Phase I, two Phase II, and two Phase III clinical trials. The dose of eliglustat is 84 mg twice a day or once daily depending on the cytochrome P450 2D6 genotype of the patient.

O72. Monocyte–macrophage system in pregnancy complications from the prospective of extracellular vesicles

Introduction Successful pregnancy is based on the immunological balance between the maternal immunity and the feto-placental immune system. The activity of the monocyte–macrophage (MO–Mph) system is a critical step in placental homeostasis. The bilateral effects between MO–Mph-derived extracellular vesicles (EVs) and neighboring cells or the microenvironmental EVs and MO–Mph are well-known. On the one hand, EVs released from Mph-s have both autocrine and paracrine effects including the regulation of the differentiation of local MOs into Mph-s, the induction of inflammation-induced apoptosis, or the regulation of antigen presentation. It is also well-defined that infections modify the content of Mph-derived EVs which than stimulate pro-inflammatory responses and may have a role in pregnancy complications. Objective The aim of our study was the characterization of the interactions between circulating EVs and the MO–Mph system in pregnancy complications. Methods Characterization of in vivo apoptosis and circulating MO subsets and also the effects of circulating MVs on MO function were followed up. Multicolor flow cytometry was used for the characterization of circulating microvesicles (MVs) and apoptotic bodies (ABs), and an in vitro co-culture system was designed for the identification of the effects of pregnancy associated circulating MVs. Results Significantly higher amounts of circulating ABs could be detected in pre-eclamptic plasma compared to the healthy pregnants. The binding ability of circulating MVs to human leukocytes did not differ. The distribution of MO subsets was typical for preeclampsia: higher amounts of CD14+/HLA-DR+ Mo-s and significantly lowers levels of CD14dim+ MOs could be detected. On the other hand, neither the expression level of HLA-DR on circulating MOs differed, nor the circulating MVs modified the HLA-DR expression in an in vitro culture system. Conclusion Our studies on the interactions between trophoblast derived MVs (tMVs) and infections in the development of preeclampsia suggested that tMVs induced IL-6 production in human leukocytes and the combined effect of LPS and tMVs resulted in an upregulation of the synthesis of the pro-inflammatory cytokines, IL-6 and TNFa. Our results confirm a reciprocal effect between circulating MVs and maternal MO-Mph system which may have both local and systemic consequences in the development of preeclampsia.

A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia.

Gaucher disease (GD) is the most common lysosomal disorder resulting from deficient activity of the β-glucosidase enzyme that causes accumulation of glucosylceramide in the macrophage-monocyte system. Notably, because of non-specific symptoms and a lack of awareness, patients with GD experience long diagnostic delays. The aim of this study was to apply a diagnostic algorithm to identify GD type 1 among adults subjects referred to Italian haematology outpatient units because of splenomegaly and/or thrombocytopenia and, eventually, to estimate the prevalence of GD in this selected population. One hundred and ninety-six subjects (61 females, 135 males; mean age 47.8 ± 18.2 years) have been enrolled in the study and tested for β-glucosidase enzyme activity on dried blood spot (DBS). Seven of 196 patients have been diagnosed with GD, (5 females and 2 males) with mean age 31.8 ± 8.2 years, with a prevalence of 3.6% (with a prevalence of 3.6% (I95% CI 1.4-7.2; 1/28 patients) in this population. These results show that the use of an appropriate diagnostic algorithm and a simple diagnostic method, such as DBS, are important tools to facilitate the diagnosis of a rare disease even for not disease-expert physicians.

Pegylated liposomal doxorubicin-induced palmar plantar erythrodyesthesia: Identification of risks factors.

e13569 Background: Pegylated liposomal doxorubicin (PLD) is widely used in relapsing ovarian carcinoma (ROC). Its original formulation is metabolized by the monocyte-macrophage system. One of its m...