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Ruys T.E.P.,Erasmus Medical Center | Roos-Hesselink J.W.,Erasmus Medical Center | Hall R.,Norwich University | Subirana-Domelnech M.T.,Hospital Of Sant Pau | And 8 more authors.
Heart | Year: 2014

Objective Heart failure (HF) is one of the most important complications in pregnant women with heart disease, causing maternal and fetal mortality and morbidity. Methods This is an international observational registry of patients with structural heart disease during pregnancy. Sixty hospitals in 28 countries enrolled 1321 women between 2007 and 2011. Pregnant women with valvular heart disease, congenital heart disease, ischaemic heart disease, or cardiomyopathy could be included. Main outcome measures were onset and predictors of HF and maternal and fetal death. Results In total, 173 (13.1%) of the 1321 patients developed HF, making HF the most common major cardiovascular complication during pregnancy. Baseline parameters associated with HF were New York Heart Association class ≥3, signs of HF, WHO category ≥3, cardiomyopathy or pulmonary hypertension. HF occurred at a median time of 31 weeks gestation (IQR 23-40) with the highest incidence at the end of the second trimester (34%) or peripartum (31%). Maternal mortality was higher in patients with HF (4.8% in patients with HF and 0.5% in those without HF p<0.001). Pre-eclampsia was strongly related to HF (OR 7.1, 95% CI 3.9 to 13.2, p<0.001). Fetal death and the incidence of preterm birth were higher in women with HF compared to women without HF (4.6% vs 1.2%, p=0.001; and 30% vs 13%, p=0.001). Conclusions HF was the most common complication during pregnancy, and occurred typically at the end of the second trimester, or after birth. It was most common in women with cardiomyopathy or pulmonary hypertension and was strongly associated with pre-eclampsia and an adverse maternal and perinatal outcome.


PubMed | University of Molise, University of Padua, University of Salerno, Regional Hospital of Bolzano and Child and Adolescent Neuropsychiatry
Type: | Journal: Molecular and cellular neurosciences | Year: 2016

The KCNT1 gene encodes for subunits contributing to the Na(+)-activated K(+) current (KNa), expressed in many cell types. Mutations in KCNT1 have been found in patients affected with a wide spectrum of early-onset epilepsies, including Malignant Migrating Partial Seizures in Infancy (MMPSI), a severe early-onset epileptic encephalopathy characterized by pharmacoresistant focal seizures migrating from one brain region or hemisphere to another and neurodevelopment arrest or regression, resulting in profound disability. In the present study we report identification by whole exome sequencing (WES) of two de novo, heterozygous KCNT1 mutations (G288S and, not previously reported, M516V) in two unrelated MMPSI probands. Functional studies in a heterologous expression system revealed that channels formed by mutant KCNT1 subunits carried larger currents when compared to wild-type KCNT1 channels, both as homo- and heteromers with these last. Both mutations induced a marked leftward shift in homomeric channel activation gating. Interestingly, the KCNT1 blockers quinidine (3-1000M) and bepridil (0.03-10M) inhibited both wild-type and mutant KCNT1 currents in a concentration-dependent manner, with mutant channels showing higher sensitivity to blockade. This latter result suggests two genotype-tailored pharmacological strategies to specifically counteract the dysfunction of KCNT1 activating mutations in MMPSI patients.


Crepaz R.,Regional Hospital of Bolzano | Romeo C.,Regional Hospital of Bolzano | Montanaro D.,Regional Hospital of Bolzano | De Santis S.,Actelion Pharmaceuticals
BMC Cardiovascular Disorders | Year: 2013

Background: Patients with Down's syndrome and shunt lesions are at high risk of developing pulmonary arterial hypertension (PAH) earlier than patients without Down's syndrome. However, data on the efficacy of PAH-specific therapy in patients with Down's syndrome are limited. The aim of this retrospective analysis was to determine the long-term efficacy of the dual endothelin receptor antagonist, bosentan, in Eisenmenger's syndrome (ES) patients with Down's syndrome.Methods: In this observational study adults with Down's syndrome with a confirmed diagnosis of ES (World Health Organization functional class III) and receiving bosentan therapy and were followed up long term. Clinical evaluation at baseline and follow-up visits included resting transcutaneous arterial oxygen saturation and laboratory assessments. Exercise capacity was evaluated using a 6-minute walk test where transcutaneous arterial oxygen saturation at peak exercise (SpO2), 6-minute walk distance (6MWD) and Borg dyspnoea index were assessed. A full echocardiographic assessment was conducted at baseline and follow-up visits.Results: Overall, seven adults (mean age 29.6 ± 11.2 years; 57% male) received bosentan at a starting dose of 62.5 mg twice daily. This was increased to the target dose of 125 mg twice daily 4 weeks later. All patients remained on bosentan until the end of the study. After a mean (± standard deviation) duration of 52.2 ± 3.9 months (range: 46.0-55.5 months), 6MWD had increased from 199.6 ± 69.1 metres to 303.7 ± 99.9 metres (P < 0.05) and SpO2 at the end of the 6-minute walk test had increased from 61.6 ± 7.6% to 74.7 ± 6.2% (P < 0.05). Echocardiography demonstrated a significant change in acceleration time from 62.9 ± 11.6 m/s to 83.0 ± 9.6 m/s (P = 0.0156), and acceleration time/ejection time ratio from the pulmonary flow from 0.24 ± 0.04 at baseline to 0.30 ± 0.02 (P = 0.0156) at final follow-up.Conclusions: Long-term treatment with bosentan significantly improved exercise capacity and oxygen saturation following exercise in adult ES patients with Down's syndrome. These data confirm that the presence of Down's syndrome does not affect the response to oral bosentan therapy. © 2013 Crepaz et al.; licensee BioMed Central Ltd.


Iughetti L.,University of Modena and Reggio Emilia | Capone L.,Regional Hospital of Bolzano | Maggio M.C.,Associazione Cante of Montevecchio | Predieri B.,University of Modena and Reggio Emilia
Hormone Research in Paediatrics | Year: 2012

Background/Aims: Mutations of the short stature homeobox-containing (SHOX) gene on the pseudoautosomal region of the sex chromosomes cause short stature. GH treatment has been recently proposed to improve height in short patients with SHOX deficiency. The aim of this study was to evaluate GH secretion and analyze growth and safety of recombinant human GH (rhGH) therapy in short children and adolescents with SHOX deficiency. Patients and Design: We studied 16 patients (10 females; 9.7 ± 2.9 years old; height-2.46 ± 0.82 standard deviation score, SDS) with SHOX deficiency. All subjects underwent auxological evaluations, biochemical investigations, and were treated with rhGH (0.273 ± 0.053 mg/kg/week). Results: Impaired GH secretion was present in 37.5% of the studied subjects. Comparing baseline data with those at the last visit, we found that rhGH treatment improved growth velocity SDS (from-1.03 ± 1.44 to 2.77 ± 1.95; p = 0.001), height SDS (from-2.41 ± 0.71 to-1.81 ± 0.87; p < 0.001), and IGF-1 values (from-0.57 ± 1.23 to 0.63 ± 1.63 SDS, p = 0.010) without affecting body mass index SDS. Height SDS measured at the last visit was significantly correlated with chronological age (r =-0.618, p = 0.032), bone age (r =-0.582, p = 0.047) and height SDS (r = 0.938, p < 0.001) at the beginning of treatment. No adverse events were reported on rhGH therapy which was never discontinued. Conclusion: These data showed that impaired GH secretion is not uncommon in SHOX deficiency subjects, and that rhGH therapy may be effective in increasing height in most of these patients independent of their GH secretory status, without causing any adverse events of concern. Copyright © 2012 S. Karger AG, Basel.


Zatelli M.,Regional Hospital of Bolzano | Comai A.,Regional Hospital of Bolzano
International Journal of Surgery Case Reports | Year: 2015

PRESENTATION OF CASE We report a 50-year-old woman who was transferred from the Bolzano Hospital Department of Neurosurgery to the Intensive Care Unit with anemia and the occurrence of major abdominal pain.DISCUSSION Spontaneous hepatic rupture remains a rare event, associated more often than not with pregnancy or traumatic events. The treatment of hemorrhage due to spontaneous rupture of the liver includes, in addition to serial monitoring of hemoglobin values, in cases of unstable patients, embolization, hepatic resection and packing.CONCLUSION The case described here shows that spontaneous rupture of the liver may be due to indefinable causes and that its treatment remains complex and multidisciplinary.INTRODUCTION Spontaneous rupture of the liver is a rare event often associated with the presence of malignant liver disease or occurring in the context of a HELLP syndrome. We present a case of spontaneous rupture of the liver in a patient admitted to our Intensive Care Department with hemoperitoneum in the aftermath of recent surgical clipping of a cerebral aneurysm. © 2014 The Authors. Published by Elsevier Ltd.


Longhi S.,Regional Hospital of Bolzano | Pasquino B.,Regional Hospital of Bolzano | Calcagno A.,University of Genoa | Bertelli E.,University of Genoa | And 3 more authors.
Clinical Endocrinology | Year: 2013

Objective It is still not known whether fat mass excess could exert a positive effect on bone. The aim of our study was to evaluate bone strength and quality in a group of overweight and obese children and adolescents by assessing bone geometry at metacarpal bones and ultrasound at phalangeal level. Design and patients This is a cross sectional observational study performed in 123 subjects, aged 11·2 ± 2·9 years. Measurements Digitalized X-rays were evaluated at the level of the 2nd metacarpal bone for the determination of the outer (D) and inner (d) diameter, cortical area (CA), medullary endocortical area (EA), metacarpal index (MI) and bone strength (Bending Breaking Resistance Index; BBRI). A total of 98 subjects underwent amplitude dependent speed of sound (Ad-SOS) and bone transmission time (BTT) assessment by phalangeal ultrasonography. Results SDs for each measured parameter were as follows: Males: D = -0·71 ± 0·95, d = -0·29 ± 0·86, CA = -0·69 ± 0·69, EA = -0·32 ± 0·79, Ad-SOS = -1·14 ± 0·91, BTT = -1·17 ± 1·11 and BBRI (417 ± 151 vs 495 ± 174 mm3) were all significantly lower than in controls (P < 0·05). Females: D = -1·03 ± 1·06, d = -0·38 ± 0·92, CA = -0·91 ± 0·72, EA = -0·46 ± 0·79, Ad-SOS = -1·08 ± 1·11, BTT = -0·97 ± 1·07 and BBRI (342 ± 117 vs 649 ± 318 mm3) were all significantly lower than in controls (P < 0·05). Conclusions Obese children show an unfavourable bone geometry and a bone of low quality and reduced strength compared to controls at a nonweight bearing skeletal site. This finding seems to support a detrimental effect of fat mass on bone and explain the frequent occurrence of wrist fractures in this group of children. © 2012 Blackwell Publishing Ltd.


Baronio F.,Regional Hospital of Bolzano | Battisti L.,Regional Hospital of Bolzano | Radetti G.,Regional Hospital of Bolzano
Journal of Pediatric Endocrinology and Metabolism | Year: 2011

Background: It has been suggested that chemotherapy per se might impair the hypothalamus-pituitary-thyroid axis of childhood cancer survivors. Objective: We examined six patients treated for acute lymphoblastic leukemia (ALL) with chemotherapy alone, with suspicious central hypothyroidism (CH). Subjects and methods: ALL was diagnosed at a mean age of 3.8 years (range 0.3-6 years), the mean follow-up is 6 years (range 6-13 years). Auxological data were recorded, and thyroid function, autoimmunity and ultrasonography (US) were evaluated. Three individuals underwent a thyrotropin-releasing hormone (TRH) test and a magnetic resonance imaging (MRI) scan of the hypothalamic-pituitary region. Results: All study participants showed negative thyroid autoimmunity, normal thyroid ultrasound, and thyroid-stimulating hormone (TSH) above the normal range; free T4 (fT4) was abnormally low in two patients. After TRH infusion all patients showed TSH increase and slow TSH decline. Conclusions: Our study shows that CH could arise at any time after childhood leukemia following only chemotherapy treatment. Although overt hypothyroidism was detected in only two patients, a careful follow-up of thyroid function is also recommended for ALL survivors not treated by irradiation. © 2011 by Walter de Gruyter Berlin Boston.


Radetti G.,Regional Hospital of Bolzano | Maselli M.,Regional Hospital of Bolzano | Buzi F.,Regional Hospital of Brescia | Corrias A.,Regina Margherita Children Hospital | And 8 more authors.
Clinical Endocrinology | Year: 2012

Objective The natural history of Hashimoto's thyroiditis (HT) and isolated hyperthyrotropinaemia (IH) is not well defined. We therefore studied the natural course of patients with HT and IH and looked for possible prognostic factors. Design This is retrospective cross-sectional study. Patients Three hundred and twenty-three patients with HT (88 boys and 235 girls) and 59 with IH (30 boys and 29 girls), mean age 9·9 ± 3·8 years were included in the study. When first examined, 236 of the children with HT had a normal TSH (G0) and in 87, it was elevated but <100% of the upper limit (G1). All IH subjects had elevated TSH. Potential risk factors for thyroid failure were evaluated after 3 years and included the presence or familiarity for endocrine/autoimmune diseases, premature birth, signs and symptoms of hypothyroidism, TSH levels, antithyroid antibodies and thyroid volume. Results HT: Of those with HT, 170 G0 patients remained stable, 31 moved to G1 and 35 to G2 (hypothyroidism). Thirty-six G1 children moved to G0, 17 remained stable and 34 moved to G2. Of patients with IH: 23 normalized, 28 remained stable and eight became overtly hypothyroid. In patients with HT, the presence of coeliac disease, elevated TSH and thyroid peroxidase antibodies (TPOAb) increased the risk of developing hypothyroidism by 4·0-, 3·4- and 3·5-fold, respectively. The increase in TSH levels during follow-up was strongly predictive of the development of hypothyroidism. In patients with IH, no predictive factor could be identified. Conclusions Coeliac disease, elevated TSH and TPOAb at presentation and a progressive increase in TSH are predictive factors for thyroid failure in HT patients. © 2012 Blackwell Publishing Ltd.


Daves M.,Regional Hospital of Bolzano | Giacomuzzi K.,Regional Hospital of Bolzano | Tagnin E.,Regional Hospital of Bolzano | Jani E.,Regional Hospital of Bolzano | And 3 more authors.
Blood Coagulation and Fibrinolysis | Year: 2014

Sample centrifugation is an essential step in the coagulation laboratory, as clotting tests are typically performed on citrated platelet (PLT) poor plasma (PPP). Nevertheless, no clear indication has been provided as to whether centrifugation of specimens should be performed with the centrifuge brake set to on or off. Fifty consecutive sodium citrate anticoagulated samples were collected and divided into two aliquots. The former was centrifuged as for Clinical Laboratory Standards Institute (CLSI) guidelines with the centrifuge brake set to on, whereas the latter was centrifuged again as for CLSI guidelines, but with the brake set to off. In the PPP of all samples, a PLT count was performed, followed by the analysis of activated partial thromboplastin time (APTT), prothrombin time (PT) and fibrinogen (FBG). The PLT count after samples centrifugation was substantially reduced, either with centrifuge brake set to on or off (5±1 versus 3±1×10/l; P=0.009). The frequency of samples exceeding a PLT count less than 10×10/l was nearly double in samples centrifuged with the brake on than in those with the brake off (14 versus 8%; P<0.01). Although no significant difference was found for APTT values, PT was slightly prolonged using the centrifuge brake set to on (mean bias 0.2s; P<0.001). FBG values were also significantly higher using the centrifuge brake set to on (mean bias 0.29g/l; P<0.001). The results of this study indicate that sample centrifugation for routine coagulation testing should be preferably performed with the centrifuge brake set to off for providing a better quality specimen. © 2014 Wolters Kluwer Health Lippincott Williams & Wilkins.


Longhi S.,Regional Hospital of Bolzano | Radetti G.,Regional Hospital of Bolzano
JCRPE Journal of Clinical Research in Pediatric Endocrinology | Year: 2013

Nowadays, childhood obesity is one of the biggest health emergencies in the developed countries. Obesity leads to multiple metabolic alterations which increase the risk of developing diabetes and cardiovascular diseases. Thyroid function has been often described as altered in obese children, however, it is not clear whether the altered thyroid function is the cause or the consequence of fat excess. On the other hand, thyroid structure seems also to be affected. Nevertheless, both functional and structural alterations seem to improve after weight loss and therefore no treatment is needed. © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing.

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