F. Brunello

Consejo Nacional de Investigaciones Científicas y Técnicas

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P. Carucci

University of Turin

Silvia Gaia

University of Turin

M. Rizzetto

University of Turin

A. Cantamessa

Azienda Ospedaliera Citta' della Salute e della Scienza di Torino

Mario Rizzetto

Fondazione Ricerca Molinette

Emanuela Rolle

University of Turin

Eugenio Caturelli

Ospedale di Belcolle

Nicola Leone

University of Modena and Reggio Emilia

Ilario de Sio

University of Campania "Luigi Vanvitelli"

Lorenzo Capussotti

A. O. Ordine Mauriziano di Torino

Cooperative Institutions

University of Turin

118

Azienda Ospedaliero Universitaria San Giovanni Battista

Fondazione Ricerca Molinette

Azienda Ospedaliera Citta' della Salute e della Scienza di Torino

Istituti di Ricovero e Cura a Carattere Scientifico

Consejo Nacional de Investigaciones Científicas y Técnicas

University of Buenos Aires

University of Milan

Fundación Ciencias Exactas y Naturales

Ospedale San Luigi Gonzaga

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Helicobacter pylori seroprevalence in patients with cirrhosis of the liver and hepatocellular carcinoma

Cancer Detection and Prevention (2003)

Nicola Leone Rinaldo Pellicano F. Brunello Miguel Angel Cutufia M Berrutti

Seroprevalence

10.1016/j.cdp.2003.07.004

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Citations (48)

OR15-03 High Prevalence of Gene Variants in Boys of Prepubertal Age with Clinical Suspicion of Central Hypogonadism and Low AMH

Journal of the Endocrine Society (2020)

F. Brunello E Gabriela Sansó Paula Scaglia María Esnaola Azcoiti Ariel Berenstein

Abstract Introduction: In boys of prepubertal age, the diagnosis of central hypogonadism may be difficult to ascertain since gonadotropins and testosterone are normally low. Sertoli cell markers, like AMH and inhibin B, may be useful. In recent years, with the development of next generation sequencing (NGS) technology, the number of genes associated with central hypogonadism has had an exponential increase. However, even with these advanced techniques, the gene variants with potential pathogenicity can be found at present in only 30-50% of the patients. Hypothesis of the study: Low serum AMH is an appropriate screening biomarker to select patients for NGS, in order to make a genetic diagnosis in boys of prepubertal age with suspected central hypogonadism. Patients and methods: All patients aged 1-10 yr referred between 2001 and 2018 with clinical suspicion of central hypogonadism (micropenis and cryptorchidism and/or microorchidism), with low serum AMH (<10th centile) were included. Serum AMH was determined by ELISA (Beckman-Coulter), and LH, FSH and testosterone (T) by ECLIA (Roche). NGS was performed with the TruSight™ One Sequencing Panel in a NextSeq® 500 sequencer (Illumina). Results are expressed as medians (range). Results: 13 patients were included. Age at first visit was 4.4 (0.1-9.2) yr. Cryptorchidism was present in all of them, micropenis in 10 and microorchidism in 11. Orchiopexy was required in 11 boys and the other 2 responded to hCG treatment. 4 patients had olfactory disturbances, 1 had sensory deafness and 1 had piebaldism. 2 patients had a family history of olfactory disturbances and/or central hypogonadism. 7 patients could be followed up to pubertal age, and the diagnosis of central hypogonadism was clinically confirmed. At age 6.1 yr (1.2-10), AMH was 159 pmol/L (65-363), LH was <0.1 IU/L in all, FSH was 0.61 IU/L (<0.1-1.9). 17 variants in 9 genes associated with central hypogonadism were found in 10 of 13 patients. 5 boys had 1 gene variant, while 4 had 2 gene variants and 1 had 3 gene variants indicating probable oligogenicity, in the following genes: FGFR1 (n:4), CHD7 (n:3), PROKR2 (n:2), SOX10 (n:2), AXL (n:2), HS6ST1 (n:1), AMHR2 (n:1), NSMF (n:1), DCC (n:1). Conclusion: A high prevalence of gene variants was found in boys of prepubertal age with a suspicion of central hypogonadism based on micropenis and cryptorchidism and/or microorchidism with low serum AMH.

Micropenis

Kallmann syndrome

Hypogonadotrophic hypogonadism

10.1210/jendso/bvaa046.1462

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Juvenile hemochromatosis associated with B-thalassemia treated by phlebotomy and recombinant human erythropoietin.

PubMed (2000)

Marco De Gobbi Paolo Pasquero F. Brunello P. Paccotti U Mazza

Juvenile hemochromatosis is a rare genetic disorder that causes iron overload. Clinical complications, which include liver cirrhosis, heart failure, hypogonadotropic hypogonadism and diabetes, appear earlier and are more severe than in HFE-related hemochromatosis. This disorder, therefore, requires an aggressive therapeutic approach to achieve iron depletion. We report here the case of a young Italian female with juvenile hemochromatosis who was unable to tolerate frequent phlebotomy because of coexistent ss-thalassemia trait. The patient was successfully iron-depleted by combining phlebotomy with recombinant human erythropoietin.

Phlebotomy

Hereditary hemochromatosis

Bloodletting

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Citations (19)

995 A COMPARATIVE STUDY BETWEEN ULTRASOUND EVALUATION, LIVER STIFFNESS MEASUREMENT AND BIOPSY FOR STAGING OF HEPATIC FIBROSIS IN PATIENTS WITH CHRONIC LIVER DISEASE

Journal of Hepatology (2009)

Silvia Gaia C Cocuzza Emanuela Rolle E. Bugianesi P. Carucci

Chronic liver disease

Hepatic fibrosis

Liver disease

Chronic hepatic

10.1016/s0168-8278(09)60997-1

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Citations (2)

Hepatic involvement in larva migrans of Toxocara canis: Report of a case with pathological and radiological findings

Digestive and Liver Disease (2005)

Nicola Leone M. Baronio L. Todros Ezio David F. Brunello

Visceral larva migrans

Hypereosinophilia

Hypereosinophilic Syndrome

10.1016/j.dld.2005.07.007

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Citations (26)

T-27 Study of new algorithms for non-invasive staging of liver fibrosis in chronic viral hepatitis (CH) and non-alcoholic fatty liver disease (NAFLD)

Digestive and Liver Disease (2013)

Daniela Campion Silvia Gaia M. Spandre F. Brunello Andréia Silva Evangelista

Myostatin

Viral Hepatitis

Alcoholic Hepatitis

10.1016/s1590-8658(13)60063-8

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254 SINGLE HEPATOCELLULAR CARCINOMA SMALLER THAN 2 cm: ARE PERCUTANEOUS ETHANOL INJECTION AND RADIOFREQUENCY ABLATION EQUALLY EFFECTIVE?

Journal of Hepatology (2013)

Nicoletta De Matthaeis Antonio Saviano Ilario de Sio G. Francica F. Brunello

Percutaneous ethanol injection

10.1016/s0168-8278(13)60256-1

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P.08.9 A PILOT STUDY ON MICROWAVE PERCUTANEOUS ABLATION OF MEDIUM-SIZED HEPATOCELLULAR CARCINOMA: A TWO YEARS FOLLOW-UP EXPERIENCE

Digestive and Liver Disease (2012)

F. Brunello Silvia Gaia Paola Rita Brunocilla Emanuela Rolle P. Carucci

Microwave ablation

10.1016/s1590-8658(12)60380-6

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Assessment of liver fibrosis in the clinical setting: something is changing?

PubMed (2007)

M Berrutti Alessia Ciancio Antonina Smedile F. Brunello R Bonardi

Clinical management of compensated chronic liver diseases (CLD) requires precise definition of the stage of liver fibrosis which is the key histologic predictor of progression to cirrhosis. Several methods are used to assess liver fibrosis. Among those, percutaneous liver biopsy is still the gold standard. However, the recent introduction of liver imaging techniques, the rising of statistical tests able to classify CLD noninvasively, and a reconsideration of its potential complications, have contributed to an audit of the evolving role of liver biopsy. At present, there is an increasing interest for noninvasive approaches to evaluate the stage of liver fibrosis in the clinical work-up of patients with CLD. Transient elastography (FibroScan) is a new, noninvasive method to assess liver stiffness and, consequently, the degree of liver fibrosis. Since its use in the clinical setting is of great interest, further studies should define the exact role of this procedure.

Transient elastography

Gold standard (test)

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Citations (4)

[Bayesian approach for the cost-effectiveness evaluation of healthcare technologies].

Epidemiologia & prevenzione/Epidemiologia e prevenzione (2009)

Paola Berchialla Darío Gregori F. Brunello Andrea Veltri Michele Petrinco

The development of Bayesian statistical methods for the assessment of the cost-effectiveness of health care technologies is reviewed. Although many studies adopt a frequentist approach, several authors have advocated the use of Bayesian methods in health economics. Emphasis has been placed on the advantages of the Bayesian approach, which include: (i) the ability to make more intuitive and meaningful inferences; (ii) the ability to tackle complex problems, such as allowing for the inclusion of patients who generate no cost, thanks to the availability of powerful computational algorithms; (iii) the importance of a full use of quantitative and structural prior information to produce realistic inferences. Much literature comparing the cost-effectiveness of two treatments is based on the incremental cost-effectiveness ratio. However, new methods are arising with the purpose of decision making. These methods are based on a net benefits approach. In the present context, the cost-effectiveness acceptability curves have been pointed out to be intrinsically Bayesian in their formulation. They plot the probability of a positive net benefit against the threshold cost of a unit increase in efficacy.A case study is presented in order to illustrate the Bayesian statistics in the cost-effectiveness analysis. Emphasis is placed on the cost-effectiveness acceptability curves. Advantages and disadvantages of the method described in this paper have been compared to frequentist methods and discussed.

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