An Intriguing Case of Anaemia and Splenomegaly

Objectives: Thrombocytopenia and splenomegaly are common features in several haematological disorders. Gaucher disease (GD) is a rare lysosomal storage disorder frequently characterized by thrombocytopenia and splenomegaly, which represents a clinical challenge for haematologists and internists. Case: We describe the case of a 37-year-old patient with a diagnosis of spherocytosis since childhood, who developed hepatic failure and presented striking features of GD including hepatosplenomegaly, bone fractures and post-partum bleeding. We reconsidered the diagnosis of spherocytosis and investigated Gaucher disease. Conclusion: GD should be considered in the differential diagnosis of thrombocytopenia and splenomegaly

Isolated office hypertension : A 3-year follow-up study

The study aimed to evaluate, over a 3-year period, the progression towards sustained hypertension and left ventricular (LV) changes in patients with isolated office (IO) hypertension (office BP140 and/or 90 mmHg, daytime BP130/80 mmHg). After 3 years from the basal evaluation, 38 subjects with basal normal BP and 42 subjects with basal IO hypertension underwent a second 24-h BP monitoring and echocardiography; 19 patients of the basal IO hypertension group were not revaluated because they had already developed ambulatory hypertension and were on antihypertensive treatment. At the second evaluation, the 38 normotensive subjects had unchanged BP and LV parameters; 25 IO hypertensives have developed sustained hypertension. Considering them together with the 19 patients already treated, 72% of 61 IO hypertensives developed ambulatory hypertension over a 3-year period. The patients who subsequently developed hypertension differed from the group who did not only for lower basal values of LV diastolic parameters; all the patients with basal LV hypertrophy and/or preclinical diastolic impairment subsequently developed sustained hypertension. In conclusion, IO hypertensive patients show a high rate of progression towards sustained hypertension. Basal LV hypertrophy and/or preclinical diastolic dysfunction were the only markers of a greater risk of becoming hypertensives

Risk factors for endocrine complications in transfusion-dependent thalassemia patients on chelation therapy with deferasirox: a risk assessment study from a multicentre nation-wide cohort

Transfusion-dependent patients typically develop iron-induced cardiomyopathy, liver disease, and endocrine complications. We aimed to estimate the incidence of endocrine disorders in transfusion-dependent thalassemia (TDT) patients during long-term iron-chelation therapy with deferasirox (DFX).We developed a multicentre follow-up study of 426 TDT patients treated with once-daily DFX for a median duration of 8 years, up to 18.5 years. At baseline, 118, 121, and 187 patients had 0, 1, or ≥2 endocrine diseases respectively. 104 additional endocrine diseases were developed during the follow-up. The overall risk of developing a new endocrine complication within 5 years was 9.7% (95%CI=6.3-13.1). Multiple Cox regression analysis identified 3 key predictors: age showed a positive log-linear effect (adjusted HR for 50% increase=1.2, 95%CI=1.1-1.3, P=0.005), the serum concentration of thyrotropin (TSH) showed a positive linear effect (adjusted HR for 1 mIU/L increase=1.3, 95%CI=1.1-1.4, P

Разработка и исследование конструкции привода управляемого задерживающего устройства шароструйно-эжекторного бурового снаряда

В работе рассмотрены принципы шароструйного бурения, а так же устройство шаростуйно-эжекторного снаряда. Предложены варианты модернизации данного снаряда.In this paper, the principles of pellet impact drilling, as well as the construction of a pellet-ejector projectile, are considered. Variants of modernization of this projectile are offered

Reproductive health issues in female patients with beta-thalassaemia major: a narrative literature review

β-thalassaemia major (BTM) has a high prevalence worldwide and is associated with considerable morbidity and mortality. The aim of this review is to provide an illustrative overview of the reproductive health and pregnancy related issues in females with β-thalassaemia. A literature search was performed in four international databases (1980–2018) to identify the potentially relevant articles. Common reproductive health disorders are hypo-gonadotrophic hypogonadism, infertility, delayed or absent sexual development, diabetes, hypothyroidism, hypoparathyroidism, osteopenia, preeclampsia, gestational hypertension, polyhydramnios, oligohydramnios, thrombosis, renal failure, peripheral vascular resistance, placenta previa, pleural effusion and pulmonary hypertension. Many of those aspects are related to iron overload and to ineffective erythropoiesis. Foetal complications include neural tube defects, abnormalities in different organs, spontaneous abortion, foetal loss, preterm birth, foetal growth restriction and low birth weight. Antenatal screening and accurate genetic prenatal examinations are effective measures to early diagnosis of thalassaemia and a detailed plan for management of pregnancies in BTM is important for favourable maternal and foetal outcome

PSYCHOLOGICAL EVALUATION IN PREGNANT WOMEN AFFECTED BY THALASSEMIA MAJOR: TRAITS AND PERSONALITY

Background. The reproductive and sexual health issues concerning persons affected by thalassemia major are complex. The study was planned to investigate the psychological attitudes and expectations in a group of thalassemic pregnant women attending hospital for regular blood transfusion.
 Methods. The study included 20 consecutive thalassemic patients and a control group of 42 healthy pregnant volunteers. We evaluated the personality structure by Rorschach's test and the presence of psychic symptoms by SCL-90-R and STAI. 
 Results. Narcissism and sexual traumas are significantly higher in thalassemic women with respects to the control group. Also the percent of anxiety and depression observed with the SCL-90-R was significantly higher than in control group. The score observed with the STAI shows that the state of anxiety changed significantly between thalassemic pregnant women and the control group, even though the scores values aren’t pathologic in neither group.
 Conclusions. This study addresses the need for developing, implementing and evaluating proper psychological support for thalassemic pregnant patients. The limit of this study is to analyze just thalassemic women because it doesn’t consider other pathologies; so the results can’t be extended to other pathologies different from thalassemic. Moreover, psychological screening and support prior to, during and following pregnancy would be indicated. Since not there are psychological studies in literature on the pregnancy in the thalassemic patients, the evaluation of the effects of pregnancy on the thalassemic disease will be the aim of future psychological investigations

Pregnant women affected by thalassemia major: a controlled study of traits and personality

Background: The reproductive and sexual health issues concerning persons affected by thalassemia major are complex. The study was planned to investigate the psychological attitudes and expectations in a group of thalassemic pregnant women attending hospital for regular blood transfusion. Methods: This is a preliminary cross-sectional study involving 20 consecutive thalassemic patients and a control group of 42 healthy pregnant volunteers. The personality structure was evaluated by Rorschach's test and the presence of psychic symptoms by SCL-90-R and STAI. Results: Narcissism and sexual traumas are significantly higher in thalassemic women with respects to the control group. Also the percent of anxiety and depression observed with the SCL-90-R was significantly higher than in control group (45% vs. 3%, p < 0.001, mean and SD values are 1.65 \ub1 0.15 vs. 0.43 \ub1 0.18 for anxiety; 55% vs. 12%, p < 0.001, mean and SD values are 1.76 \ub1 0.18 vs. 0.85 \ub1 0.25 for depression). The score observed with the STAI shows that the trait of anxiety differed between thalassemic pregnant women and the control group, even though the score values aren't pathologic in neither group (87% vs. 42%, p < 0.05, mean and SD values are 33 \ub1 0.8 vs. 22 \ub1 0.2). Conclusions: This study addresses the need for developing, implementing and evaluating proper psychological support for thalassemic pregnant patients. Moreover, psychological screening and support prior to, during and following pregnancy would be indicated

Migalastat Treatment in a Kidney-Transplanted Patient with Fabry Disease and N215S Mutation: The First Case Report

Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient &alpha;-galactosidase A activity and, consequently, to glycosphingolipid accumulation in a wide variety of cells. Fabry disease due to N215S (c.644A&gt;G, p.Asn215Ser) missense mutation usually results in a late-onset phenotype presenting with isolated cardiac involvement. We herein present the case of a patient with N215S mutation with cardiac involvement, namely left ventricular hypertrophy and ventricular arrhythmias, and end-stage renal disease requiring kidney transplantation. To the best of our knowledge, this is the first report of a kidney-transplanted Fabry patient treated with oral pharmacologic chaperone migalastat

Efficacy and Safety of Ruxolitinib in Regularly Transfused Patients with Thalassemia: Results from Single-Arm, Multicenter, Phase 2a Truth Study

58th Annual Meeting and Exposition of the American-Society-of-Hematology (ASH) -- DEC 03-06, 2016 -- San Diego, CAWOS: 000394446800050Amer Soc HematolShire; Cerus; NovartisNovartis; Jansen-Cilag; RocheRoche Holding; PfizerPfizer; CelgeneAydinok: Shire: Research Funding; Cerus: Research Funding; Novartis: Membership on an entity's Board of Directors or advisory committees, Research Funding, Speakers Bureau. Karakas: Novartis: Research Funding. Siritanaratkul: Jansen-Cilag: Research Funding; Novartis: Research Funding; Roche: Research Funding; Pfizer: Research Funding. Kattamis: Novartis: Honoraria, Research Funding; ApoPharma: Honoraria. Hollaender: Novartis: Employment. Mahuzier: Novartis: Employment. Gadbaw: Novartis: Employment. Taher: Novartis: Honoraria, Research Funding; Celgene: Research Funding