Evidence for Three Distinct Classes of Phenotype Severity in Beta-Thalassaemia

Background: Classification of phenotype severity in patients with beta-thalassaemia has so far relied mainly on expert opinion using parameters of genotype, clinical features at diagnosis, and transfusion requirement. The aim of this study was to use a large dataset of patients with beta-thalassaemia and evaluate a classification system based on onset variables agreed on by an international expert group, including age at diagnosis, at first transfusion, and at first iron chelation. Methods: A retrospective dataset of 7910 patients with homozygous or compound heterozygous beta-thalassaemia was used and subjected to cluster and classification analysis starting with the onset variables. Result…

Anaplastic Thyroid Cancer in Sicily: The Role of Environmental Characteristics

Background: Anaplastic thyroid cancer (ATC) is a rare but extremely aggressive cancer of the thyroid, contributing up to 30-40% of thyroid cancer-specific mortality. We analyzed ATC characteristics and survival rates in Sicily to evaluate the possible influence of environmental factors. With this aim data regarding ATC incidences in urban/rural and industrial, iodine deficient and volcanic vs. control areas were compared in Sicily as well as ATC data from Sicily and USA. Methods: Using the Sicilian Register of Thyroid Cancer (SRTC) database incidence, age, gender, tumor size and histotype, extrathyroidal extension, stage and coexistence with pre-existing differentiated thyroid cancer (DTC) …

A complication risk score to evaluate clinical severity of thalassaemia syndromes

The thalassaemia syndromes (TS) show different phenotype severity. Developing a reliable, practical and global tool to determine disease severity and tailor treatment would be of great value. Overall, 7910 patients were analysed with the aim of constructing a complication risk score (CoRS) to evaluate the probability of developing one or more complications. Nine independent variables were included in the investigation as predictors. Logistic regression models were used for Group A [transfusion-dependent thalassaemia (TDT)], Group B [transfused non-TDT (NTDT)] and Group C (non-transfused NTDT). Statistically significant predictors included age (years), haemoglobin levels, hepatic transaminas…

Development of a Severity Score System for Thalassemia Syndromes

Introduction Thalassemia Syndromes (TS) are a group of inherited haemoglobin disorders characterized by different phenotype severity falling among heterozygote state, no transfusion dependent thalassemia (NTDT) and transfusion dependent Thalassemia (TDT) (Graffeo et al, 2018; Taher & Saliba, 2017). Several factors, independently by genotype and globin chain unbalance, modulate the severity of ineffective erythropoiesis (Rivella et al, 2015). Considering the complexity of this pathophysiology, one tool to evaluate patients on an individual basis is needed. The aim of this study was to develop a severity scoring system with a view to initiate timely interventions that would prevent any fu…

Risk factors of female cancers in Ragusa population (Sicily). 2. Breast cancer.

A case-control study on breast, cervix and corpus uteri cancer cases registered in Ragusa between January 1, 1983 and June 30, 1985 has been conducted. Information on risk factors has been obtained by means of a structured questionnaire. Risk factors for breast cancer were: few pregnancies (1-2 vs greater than 4 OR 2.14, 95% CL 1.13-4.04), few children (for postmenopausal only, chi trend 4.84), previous breast disease (OR 1.97, 95% CL 1.20-3.23), family history (OR 3.57, 95% CL 1.92-6.63), alcohol (OR 1.68, 95% CL 1.12-2.53), high socioeconomical status (1 vs 4 OR 2.93, 95% CL 1.22-70.03). A protective role was evident for: early age at first birth (for premenopausal only, less than 20 vs g…

Primary HBB gene mutation severity and long-term outcomes in a global cohort of β-thalassaemia

In β-thalassaemia, the severity of inherited β-globin gene mutations determines the severity of the clinical phenotype at presentation and subsequent transfusion requirements. However, data on associated long-term outcomes remain limited. We analysed data from 2109 β-thalassaemia patients with available genotypes in a global database. Genotype severity was grouped as β0 /β0 , β0 /β+ , β+ /β+ , β0 /β++ , β+ /β++ , and β++ /β++ . Patients were followed from birth until death or loss to follow-up. The median follow-up time was 34·1 years. Mortality and multiple morbidity outcomes were analyzed through five different stratification models of genotype severity groups. Interestingly, β0 and β+ mu…

Papillary thyroid cancer incidence in the volcanic area of Sicily.

Abstract BACKGROUND: The steadily increasing incidence of thyroid cancer has been attributed mostly to more sensitive thyroid nodule screening. However, various environmental factors, such as those associated with volcanic areas, cannot be excluded as risk factors. We evaluated thyroid cancer incidence in Sicily, which has a homogenous population and a province (Catania) that includes the Mt Etna volcanic area. METHODS: In a register-based epidemiological survey, we collected all incident thyroid cancers in Sicily from January 1, 2002, through December 31, 2004. The age-standardized incidence rate for the world population (ASR(w)) was calculated and expressed as the number of thyroid cancer…

DNA aneuploidy and high proliferative activity but not K-ras-2 mutations as independent predictors of clinical outcome in operable gastric carcinoma: Results of a 5-year Gruppo Oncologico dell'Italia Meridionale (GOIM) prospective study

BACKGROUND The prognostic value of DNA ploidy, S-phase fraction (SPF) and K-ras-2 mutations in gastric carcinoma (GC) has not yet been clearly defined. The aim of this study was to clarify the association between biomolecular variables, tumor characteristics, and clinical outcome in GC patients. METHODS Resected specimens from a consecutive series of 69 patients with GC who underwent potentially curative surgery were studied prospectively. DNA ploidy and SPF were assessed by flow cytometry on multiple frozen tumor samples, whereas K-ras-2 mutations were detected by polymerase chain reaction followed by single-strand conformation polymorphism. All the patients involved in this study were fol…

Descriptive Epidemiology of Human Thyroid Cancer: Experience From a Regional Registry and The “Volcanic Factor”

Thyroid cancer (TC), the most common endocrine tumor, has steadily increased worldwide due to the increase of the papillary histotype. The reasons for this spread have not been established. In addition to more sensitive thyroid nodule screening, the effect of environmental factors cannot be excluded. Because high incidences of TC were found in volcanic areas (Hawaii and Iceland), a volcanic environment may play a role in the pathogenesis of TC.In January 2002, the Regional Register for Thyroid Cancer was instituted in Sicily. With a population of approximately 5 million inhabitants with similar genetic and lifestyle features, the coexistence in Sicily of rural, urban, industrial, moderate-t…

Survival and causes of death in 2,033 patients with non-transfusion-dependent β-thalassemia

Is the acidity of ascitic fluid a reliable index in making the presumptive diagnosis of spontaneous bacterial peritonitis?

Ascitic fluid pH and arterial-ascitic fluid pH gradient were compared to ascitic fluid polymorphonuclear cell count in 84 patients with cirrhotic ascites and in 12 with malignant ascites to assess their role as diagnostic tests for spontaneous bacterial peritonitis and to clarify the relationship between ascitic fluid pH and lactate. Ascitic fluid pH was significantly lower (pH 7.30) in spontaneous bacterial peritonitis (n = 18) and probable spontaneous bacterial peritonitis (n = 12) than in sterileascites (pH 7.41; n = 54). Since blood pH levels were not different in the presence of infection, arterial-ascitic fluid pH gradient was significantly higher in spontaneous bacterial peritonitis …

A case-control study on risk factors for nuclear, cortical and posterior subcapsular cataract: The Casteldaccia Eye Study

. Purpose: To investigate risk factors for nuclear, cortical and posterior subcapsular age-related cataract. Methods: A case-control study was carried out on subjects aged 40 years and older, living in Casteldaccia, Sicily. Twenty-seven potential risk factors were investigated. Nuclear, cortical and posterior subcapsular opacities of the lens were classified according to the Lens Opacities Classification System II. Subjects with advanced lens opacities represented the cases, while an identical number of subjects without or with early cataract, matched for sex and age, were recruited as controls from within the same population. Results: Univariate analysis showed that myopia and iris atrophy…

Prevalence of glaucoma and distribution of intraocular pressure in a population. The Casteldaccia Eye Study.

IOP was measured in 1062 middle-aged and elderly subjects of a small Sicilian town, enrolled in a population based survey. The mean IOP was 15.1 +/- 3.7 mmHg without interocular or sex differences. A small but significant age-dependent increase of IOP was found. Circadian and seasonal influences were recorded: IOP was higher in the morning and in winter. The prevalence of chronic open-angle glaucoma was 1.2%, but it grew to 3.6 if only subjects aged 70 years or more were considered. IOP of 24 mmHg or more was found in 2.7%, while 4.3% of subjects showed IOP of 21 mmHg or more. This survey shows that mean IOP of the Mediterranean population studied is similar to the IOP found in other epidem…

Prevalence and risk factors of diabetic retinopathy in adult and elderly subjects. The Casteldaccia Eye Study

PURPOSE: To investigate the prevalence and risk factors of diabetic retinopathy in subjects aged 40 years or older living in Casteldaccia, Sicily. METHODS: A population-based survey was performed on 1,588 subjects randomly enrolled among people aged 40 years or older. A total of 1,068 persons could be examined and in 1,019 the fundus of the eye was adequately observed (64.2% of the enrolled population). Diabetic retinopathy was diagnosed by ophthalmoscopy and fundus photographs; fluorescein angiography was performed in 91% of retinopathic subjects. In addition, a case-control study was carried out in order to demonstrate the association of diabetic retinopathy with a number of variables. RE…

Risk of mortality from anemia and iron overload in nontransfusion-dependent β-thalassemia

Risk factors of ocular hypertension and glaucoma. The Casteldaccia Eye Study.

A case-control study was planned as a part of the Casteldaccia Eye Study in order to investigate about risk factors of ocular hypertension and glaucoma. Cases were 44 subjects with glaucoma or intraocular pressure of 24 mm Hg or more. Controls were 220 subjects with intraocular pressure of 20 mm Hg or less and no signs of glaucoma. A number of environmental, behavioral, systemic and ocular variables were studied. Among the others we investigated the following: sunlight exposure, smoking, alcohol intake, pregnancies, systemic hypertension, diabetes, use of corticosteroids, refractive status, anterior chamber depth, lens nuclear sclerosis, iris color and texture. After univariate analysis the…

The Changing Pattern of Human Immunodeficiency Virus Type 1 Infection in Intravenous Drug Users

A cross-sectional seroepidemiologic study was carried out between 1985 and 1990 in 1,567 heterosexual intravenous drug users who had been seen at the AIDS Regional Reference Center in Palermo, Italy, to evaluate the rate of human immunodeficiency virus type 1 (HIV-1) seroprevalence in this group and its long-term trend. Sixty serum samples collected from drug users in 1980 and 1983, before the founding of the Center (1985), were tested as well. Some demographic and behavioral risk factors were studied in a subgroup of intravenous drug users enrolled in 1985, 1987, and 1990 for their possible association with HIV-1. These factors were also studied in relation to hepatitis B virus infection, …

β-Thalassemia heterozygote state detrimentally affects health expectation.

Background: Thalassemia minor (Tm) individuals, are generally considered healthy. However, the prognosis of Tm individuals has not been extensively studied. The aim of this study was to evaluate the prognosis of Tm versus controls without β-thalassemia carrier state. Methods: A total of 26,006 individuals seeking thalassemia screening at the AOOR Villa Sofia-V. Cervello, Palermo (Italy) were retrospectively studied. Logistic penalised regression model was used to estimate risk of potential complications and survival techniques were used to study mortality. Results: We identified a total of 4943 Tm and 21,063 controls. Tm was associated with significantly higher risks of hospitalisation for …

Descriptive Epidemiology of Stomach Cancer in Ragusa, Sicily, 1981–1988

An epidemiologic study was carried out on 475 incident cases of gastric cancer registered by the Ragusa Cancer Registry (Sicily) between 1981 and 1988. Distribution by sex, age, subsite, year of incidence, and survival was investigated. A reduction of incidence and mortality between 1981–84 and 1985–88 was observed in both sexes, and was more evident in males than in females. Survival was not significantly different for cancers of the various subsites.

Risk factors of female cancers in ragusa population (sicily) - I. Endometrium and cervix uteri cancers

A case-control study on breast, cervix and endometrium cancer cases registered in Ragusa between January 1, 1983 and June 30, 1985 has been conducted. Information on risk factors has been obtained by means of a structured questionnaire. Risk factors for endometrium cancer were: few children (1–2 vs > 4 OR 15.18, 95%CL 1.96–117.64), oestrogenic treatment (OR 2.20, 95%CL 1.05–4.90), obesity (Quetelet index >30 vs 2 vs 0 OR 9.87, 95%CL 1.46–66.66), no contraception (OR 8.33, 95%CL 2.38–25.00), younger age of mother at birth (OR 6.89, 95%CL 1.71–27.70). Age at menarche, age at menopause and years of fertile life were not found to be related to either endometrium or cervix uteri cancer. The exis…

Three Distinct Groups of Phenotype Severity in Beta-Thalassemia

Background Thalassemia Syndromes (TS) are commonly classified as transfusion-dependent-thalassemia (TDT) or non-transfusion-dependent thalassemia (NTDT) at diagnosis on the basis of requirement for lifelong regular transfusion therapy for survival. However, data from observational studies and expert opinion suggest that these categories may reflect a wide spectrum rather than a dichotomy, and may actually be interchangeable at many parts of the disease journey. Thus, an evaluation of alternate clusters to classify TS patients remains of merit. Aims The aim of this study was to cluster TS patients on the basis of possible clinical indicators of phenotype severity (IPhS) using suitable algori…

Salvate Eva in Sicilia: indagine conoscitiva 2016 sull’adesione allo screening organizzato del cervicocarcinoma.

In Sicilia, a fronte di un incremento dell’estensione dello screening organizzato del cervicocarcinoma, non corrisponde un aumento dell’adesione. Nei mesi di gennaio-giugno 2016 è stata condotta un’indagine trasversale somministrando un questionario standardizzato a un campione di 365 donne, per descrivere le ragioni del fenomeno e promuovere interventi mirati. Per le variabili di atteggiamento e conoscenza è stato utilizzato l’Health Belief Model, che ha esplorato la percezione della donna della suscettibilità (rischio di sviluppare il cancro), della gravità della patologia e dei benefici derivanti dal pap-test. Dai risultati emerge che il 66,6% delle intervistate ha effettuato un pap- tes…