108 results on '"Iafusco, F."'
Search Results
2. PediaVirus chatline: all together against COVID-19
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Iafusco, M, Ciampa, C, De Maddi, F, Palamone, G, Quarantiello, F, De Luca, G, Iannello, C, Pisano, S, Nocerino, A, Russo, R, Orlando, F, Iafusco, D, Aiello, A, Amorosi, W, Arena, S, Aschettino, M, Basile, P, Battista, A, Bozza, L, Cafiero, M, Caldore, M, Capuano, V, Carbone, Mg, Carbone, V, Casaburo, F, Cavaliere, P, Cerciello, L, Cervone De Martino, M, Cesiro, G, Ciampa, L, Ciao, C, Cimaduomo, L, Cioffi, L, Cirillo, C, Confetto, S, Coppola, G, Crisci, A, Cuzzolin, M, D’Avino, A, De Rosa, I, De Rosa, S, De Siena, M, Del Giudice, G, Del Zotti, F, Della Rotonda, G, D’Errico, U, Di Benedetto, L, Di Prisco, A, Di Stasio, F, Dinardo, M, Donadio, P, Emiliano, M, Esposito, A, Esposito, C, Esposito, L, Esposito, Sl, Fabiani, I, Federico, A, Ferrara, D, Ferraro, E, Filippi, A, Fiorinastro, F, Foria, G, Fusco, A, Gambardella, A, Gicchino, Mf, Giuliano, M, Grano, S, Greco, P, Iacono, A, Iafusco, F, Iannello, G, Iervolino, C, Illiano, G, Imperatore, C, Indolfi, C, Indolfi, P, Iovino, A, Iuliano, R, Kosova, P, Lieto, A, Liotta, L, Lisbino, M, Lodato, G, Loffredo, G, Maida, W, Maione, R, Maiorino, C, Marigliano, Ae, Marinelli, G, Marrone, G, Minervino, G, Napoli, M, Nappo, V, Narciso, V, Nardo, S, Noviello, D, Opallo, A, Orbinato, F, Ottaviano, C, Pace, M, Palma, R, Palmentieri, P, Palmieri, L, Palmieri, S, Parrella, G, Parrotta, G, Pellegrini, F, Peluso, C, Pesole, F, Petito, A, Pezzolla, L, Pignatelli, A, Pinto, L, Piroli, C, Piscopo, A, Pullano, F, Raineri, L, Rigante, Donato, Rivezzi, G, Rocco, C, Rocco, D, Rostan, E, Russo, N, Sannino, C, Sarno, C, Savanelli, L, Serra, S, Sibilio, M, Spera, M, Speranza, P, Stagni, A, Stanco, A, Torino, M, Uccello, A, Ummarino, M, Ummarino, D, Viano, V, Vigorita, S, Villani, S, Viola, R, Vitale, A, Vitiello, R, Vuillemieur, P, and Zanfardino, A
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Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA ,Covid-19 - Published
- 2020
3. FUNZIONALITA' TIROIDEA IN BAMBINI IN TRATTAMENTO CRONICO CON DIVERSI FARMACI ANTICONVULSIVANTI
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D\'AVANZO M, DE LUCIA D, FRATTA M, TORALDO, Roberto, FAZZONE A, IAFUSCO M, IAFUSCO F., PASCOTTO, Antonio, D\'Avanzo, M, Pascotto, Antonio, DE LUCIA, D, Fratta, M, Toraldo, Roberto, Fazzone, A, Iafusco, M, and Iafusco, F.
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- 1991
4. Effect, of measles-mumps-rubella vaccination on polymorphonuclear neutrophil functions in children
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Toraldo, R, primary, Tolone, C, additional, Catalanotti, P, additional, Ianniello, R, additional, D'Avanzo, M, additional, Canino, G, additional, Galdiero, F, additional, and Iafusco, F, additional
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- 1992
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5. Decreased Adherence of Polymorphonuclear Neutrophils in Children with Viral Infection.
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TOLONE, C., TORALDO, R., CATALANOTTI, P., IANNIELLO, R., D'AVANZO, M., GALDIERO, F., and IAFUSCO, F.
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- 1989
- Full Text
- View/download PDF
6. Macroamylasemia in a 5-year-old girl.
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D'Avanzo, Michele, Cobbaert, Christa, Tolone, Carlo, Toraldo, Roberto, Canino, Gianfranco, Vetrano, Francesco, Santinelli, Raffaele, Iafusco, Ferdinando, D'Avanzo, M, Cobbaert, C, Tolone, C, Toraldo, R, Canino, G, Vetrano, F, Santinelli, R, and Iafusco, F
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- 1992
7. Glucokinase deficit and birthweight: does maternal hyperglycemia always meet fetal needs?
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D. Iafusco, Fernanda Iafusco, Enza Mozzillo, Nadia Tinto, Angela Napoli, Adriana Franzese, Camilla Festa, Olimpia Bitterman, Bitterman, O, Tinto, N, Franzese, A, Iafusco, F, Festa, C, Mozzillo, E, Napoli, A, Iafusco, D, Bitterman, Olimpia, Tinto, N., Franzese, A., Iafusco, F., Festa, C., Mozzillo, E., Napoli, A., and Iafusco, D.
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Male ,Pediatrics ,Endocrinology, Diabetes and Metabolism ,MODY 2 ,Pregnancy in Diabetics ,Fetal growth ,Monogenic diabete ,Fetal Development ,0302 clinical medicine ,Endocrinology ,Retrospective Studie ,Pregnancy ,Glucokinase ,Birth Weight ,Fetu ,Child ,diabetes and metabolism ,Mother ,030219 obstetrics & reproductive medicine ,Gestational age ,General Medicine ,Gestational diabetes ,Phenotype ,Gestational diabete ,Child, Preschool ,Prenatal Exposure Delayed Effects ,monogenic diabetes ,MODY ,Female ,gestational diabetes ,Human ,Adult ,medicine.medical_specialty ,Mothers ,030209 endocrinology & metabolism ,Gestational Age ,Pregnancy in Diabetic ,Prenatal Exposure Delayed Effect ,03 medical and health sciences ,Fetus ,Diabetes mellitus ,medicine ,Internal Medicine ,Humans ,Hypoglycemic Agents ,Retrospective Studies ,Hypoglycemic Agent ,business.industry ,fetal growth ,mody ,pregnancy ,internal medicine ,endocrinology, diabetes and metabolism ,endocrinology ,Infant, Newborn ,medicine.disease ,Diabetes Mellitus, Type 2 ,Hyperglycemia ,Mutation ,Small for gestational age ,business - Abstract
Aims: Many authors do not recommend hypoglycemic treatment during pregnancy in women affected by monogenic diabetes due to heterozygous glucokinase (GCK) mutations (MODY 2) in case of affected fetus, because maternal hyperglycemia would be necessary to achieve a normal birthweight. We aimed to evaluate differences in birthweight between MODY 2 affected children according to the parent who carried the mutation. Methods: We retrospectively studied 48 MODY 2 affected children, whose mothers did not receive hypoglycemic treatment during pregnancy, divided into two groups according to the presence of the mutation in the mother (group A) or in the father (group B). Data were extracted from the database of the Regional Centre of Pediatric Diabetology of the University of Campania, Naples, collected from 1996 to 2016. We analyzed birthweight and centile birthweight. Results: Percentage of small for gestational age was significantly higher in group B than in group A. We found three large for gestational age in the group that inherited the deficit from the mother, all with the same novel GCK mutation (p.Lys458-Cys461del). Conclusions: We hypothesize that not all MODY 2 affected fetuses need the same levels of hyperglycemia to have an appropriate growth, maybe because different kinds of GCK mutations may result in different phenotypes. Consequently, a “tailored therapy” of maternal hyperglycemia, based on fetal growth frequently monitored through ultrasounds, is essential in MODY 2 pregnancies.
- Published
- 2018
8. Metabolic Treatment of Wolfram Syndrome
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Dario Iafusco, Angela Zanfardino, Alessia Piscopo, Stefano Curto, Alda Troncone, Antonietta Chianese, Assunta Serena Rollato, Veronica Testa, Fernanda Iafusco, Giovanna Maione, Alessandro Pennarella, Lucia Boccabella, Gulsum Ozen, Pier Luigi Palma, Cristina Mazzaccara, Nadia Tinto, Emanuele Miraglia del Giudice, Iafusco, Dario, Zanfardino, Angela, Piscopo, Alessia, Curto, Stefano, Troncone, Alda, Chianese, Antonietta, Rollato, Assunta Serena, Testa, Veronica, Iafusco, Fernanda, Maione, Giovanna, Pennarella, Alessandro, Boccabella, Lucia, Ozen, Gulsum, Palma, Pier Luigi, Mazzaccara, Cristina, Tinto, Nadia, Miraglia Del Giudice, Emanuele, Iafusco, D., Zanfardino, A., Piscopo, A., Curto, S., Troncone, A., Chianese, A., Rollato, A. S., Testa, V., Iafusco, F., Maione, G., Pennarella, A., Boccabella, L., Ozen, G., Palma, P. L., Mazzaccara, C., Tinto, N., and Miraglia Del Giudice, E.
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Adult ,Young Adult ,Adolescent ,diabetes mellitu ,Health, Toxicology and Mutagenesis ,insulin therapy ,Public Health, Environmental and Occupational Health ,Quality of Life ,Humans ,Neurodegenerative Diseases ,Wolfram Syndrome ,Child - Abstract
Wolfram Syndrome (WS) is a very rare genetic disorder characterized by several symptoms that occur from childhood to adulthood. Usually, the first clinical sign is non-autoimmune diabetes even if other clinical features (optic subatrophy, neurosensorial deafness, diabetes insipidus) may be present in an early state and may be diagnosed after diabetes’ onset. Prognosis is poor, and the death occurs at the median age of 39 years as a consequence of progressive respiratory impairment, secondary to brain atrophy and neurological failure. The aim of this paper is the description of the metabolic treatment of the WS. We reported the experience of long treatment in patients with this syndrome diagnosed in pediatric age and followed also in adult age. It is known that there is a correlation between metabolic control of diabetes, the onset of other associated symptoms, and the progression of the neurodegenerative alterations. Therefore, a multidisciplinary approach is necessary in order to prevent, treat and carefully monitor all the comorbidities that may occur. An extensive understanding of WS from pathophysiology to novel possible therapy is fundamental and further studies are needed to better manage this devastating disease and to guarantee to patients a better quality of life and a longer life expectancy.
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- 2021
9. Prenatal diagnosis of HNF1b mutation allows recognition of neonatal dysglycemia
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Fernanda Iafusco, Nadia Tinto, Carmine Pecoraro, Serena Meola, Dario Iafusco, Cristina Mazzaccara, Iafusco, F., Meola, S., Pecoraro, C., Mazzaccara, C., Iafusco, D., and Tinto, N.
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Ectodermal dysplasia ,Neonatal HNF1b dysglycemia ,Endocrinology, Diabetes and Metabolism ,Prenatal diagnosis ,030209 endocrinology & metabolism ,Case Report ,030204 cardiovascular system & hematology ,Bioinformatics ,medicine.disease_cause ,Maturity onset diabetes of the young ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Diabetes mellitus ,Internal Medicine ,medicine ,Glucose homeostasis ,Mutation ,business.industry ,General Medicine ,Maturity onset diabetes of the young (MODY) ,medicine.disease ,HNF1B ,HNF1A ,business - Abstract
Maturity onset diabetes of the young (MODY) is the most common form of monogenic diabetes in Europe, affecting between 1 and 6% of diabetic patients. It comprises a group of heterogeneous genetic disorders characterized by early onset of diabetes (commonly before age 25), absence of autoimmunity, and beta-cell dysfunction. So far, mutations in 14 different genes involved in glucose homeostasis and pancreatic development [1] have been associated with this disease. Although it is an autosomal dominant disorder, de novo mutations should be taken into consideration in patients without a family history of diabetes. Most cases of MODY are due to mutations in GCK, HNF1a, HNF4a and HNF1b, previously known as MODY2, MODY3, MODY1, and MODY5, respectively. Among these, HNF1b is an active transcription factor that forms homodimers or heterodimers with HNF1a and plays a fundamental role in kidney development, nephron differentiation, and pancreatic growth and differentiation. Mutations in this gene lead to congenital anomalies of the kidney and urinary tract, genital malformations, pancreatic atrophy with endocrine and exocrine deficiency [2]. Diabetes usually onsets in early adulthood and frequently requires insulin treatment. We present an unusual case of a prenatal diagnosis that revealed a mutation in the HNF1b gene responsible for neonatal hyperglycemia in a pregnant woman affected by X-linked ectodermal dysplasia.
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- 2020
10. Molecular diagnosis of MODY3 permitted to reveal a de novo 12q24.31 deletion and to explain a complex phenotype in a young diabetic patient
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Silvana Capone, Lucio Pastore, Antonella Gambale, Paola De Sanctis, Santino Confetto, Fernanda Iafusco, Achille Iolascon, Angela Zanfardino, Barbara Lombardo, Nadia Tinto, Daniele Pirozzi, Dario Iafusco, Iafusco, F., De Sanctis, P., Pirozzi, D., Capone, S., Lombardo, B., Gambale, A., Confetto, S., Zanfardino, A., Iolascon, A., Pastore, L., Iafusco, D., and Tinto, N.
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MODY3 ,deletion 12q24.31 ,business.industry ,Biochemistry (medical) ,Clinical Biochemistry ,Medicine ,General Medicine ,Diabetic patient ,business ,Bioinformatics ,Phenotype ,HNF1A - Published
- 2019
11. Il valore aggiunto della diagnostica molecolare nelle forme monogeniche di diabete mellito
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F. Iafusco, S. Meola, B. Lombardo, A. Gambale, A. Alderisio, S. Genovese, A. Iolascon, L. Pastore, N. Tinto, Iafusco, F., Meola, S., Lombardo, B., Gambale, A., Alderisio, A., Genovese, S., Iolascon, A., Pastore, L., and Tinto, N.
- Abstract
Maturity Onset Diabetes of the Young (MODY), the most frequent form of monogenic diabetes, comprises a group of heterogeneous disorders, characterized by non-autoimmune diabetes due to mutations of at least 14 different genes. We report a case of a 38-years-old patient with non-autoimmune diabetes, where molecular analysis evidenced a large deletion on chromosome 17q12 including several genes, among them HNF1β associated to MODY5. The analysis allowed us to clarify the complex phenotype of the patient including, in addition to diabetes, intellectual disability, seizures, kidney cysts and facial dimorphisms. This case shows that diabetes when caused by large deletions, can be just one of the symptoms of a “clinical syndrome” that includes other features due to the deletion of neighboring genes and confirms the important role of the molecular test to obtain a correct diagnosis in a patient with a suspicion of monogenic diabetes.
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- 2021
12. Congenital diabetes mellitus
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Fabrizio Barbetti, Alessia Piscopo, Francesca Casaburo, Angela Zanfardino, Riccardo Bonfanti, Ivana Rabbone, Dario Iafusco, Emanuele Miraglia del Giudice, Maria Francesca Gicchino, Gulsum Ozen, Nadia Tinto, Fernanda Iafusco, Serena Meola, Iafusco, D., Zanfardino, A., Bonfanti, R., Rabbone, I., Tinto, N., Iafusco, F., Meola, S., Gicchino, M. F., Ozen, G., Casaburo, F., Piscopo, A., Miraglia Del Giudice, E., Barbetti, F., Iafusco, Dario, Zanfardino, Angela, Bonfanti, Riccardo, Rabbone, Ivana, Tinto, Nadia, Iafusco, Fernanda, Meola, Serena, Gicchino, Maria Francesca, Ozen, Gulsum, Casaburo, Francesca, Piscopo, Alessia, Miraglia Del Giudice, Emanuele, and Barbetti, Fabrizio
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Blood Glucose ,Congenital diabetes mellitu ,Diabetes mellitu ,Pediatrics ,medicine.medical_specialty ,Urinary system ,medicine.medical_treatment ,Germinal Center Kinases ,Diabetes Complications ,Pathogenesis ,03 medical and health sciences ,Rare Diseases ,0302 clinical medicine ,Diabetes mellitus ,Quality of life ,Congenital autoimmune ,030225 pediatrics ,Diabetes Mellitus ,medicine ,Humans ,Hypoglycemic Agents ,Insulin ,Type 1 diabetes ,business.industry ,Infant, Newborn ,PNDM ,Neonatal diabetes mellitu ,medicine.disease ,Sulfonylurea Compounds ,030228 respiratory system ,Hyperglycemia ,TNDM ,Permanent neonatal ,Infant, Small for Gestational Age ,Mutation ,Pediatrics, Perinatology and Child Health ,Severe intrauterine growth retardation ,Transient neonatal, 1 ,business ,Pharmacogenetics - Abstract
Congenital diabetes mellitus is a rare disorder characterized by hyperglycemia that occurs shortly after birth. We define "Diabetes of Infancy" if hyperglycemia onset before 6 months of life. From the clinical point of view, we distinguish two main types of diabetes of infancy: transient (TNDM), which remits spontaneously, and permanent (PNDM), which requires lifelong treatment. TNDM may relapse later in life. About 50% of cases are transient (TNDM) and 50% permanent. Clinical manifestations include severe intrauterine growth retardation, hyperglycemia and dehydration. A wide range of different associated clinical signs including facial dysmorphism, deafness and neurological, cardiac, kidney or urinary tract anomalies are reported. Developmental delay and learning difficulties may also be observed. In this paper we review all the causes of congenital diabetes and all genes and syndromes involved in this pathology. The discovery of the pathogenesis of most forms of congenital diabetes has made it possible to adapt the therapy to the diagnosis and in the forms of alteration of the potassium channels of the pancreatic Beta cells the switch from insulin to glibenclamide per os has greatly improved the quality of life. Congenital diabetes, although it is a very rare form, has been at the must of research in recent years especially for pathogenesis and pharmacogenetics. The most striking difference compared to the more frequent autoimmune diabetes in children (type 1 diabetes) is the possibility of treatment with hypoglycemic agents and the apparent lower frequency of chronic complications.
- Published
- 2020
13. The Association of Autoimmune Diseases with Type 1 Diabetes Mellitus in Children Depends Also by the Length of Partial Clinical Remission Phase (Honeymoon)
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Medine Aysin Tasar, Arzu Yilmaz, Santino Confetto, Fernanda Iafusco, Alessia Piscopo, Angela Zanfardino, Gulsah Ozen, Dario Iafusco, Francesca Casaburo, Emanuele Miraglia del Giudice, Gulsum Ozen, Nadia Tinto, Ozen, G., Zanfardino, A., Confetto, S., Piscopo, A., Casaburo, F., Tinto, N., Iafusco, F., Miraglia Del Giudice, E., Tasar, M. A., Yilmaz, A., Iafusco, D., and Iafusco, D
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Pediatrics ,medicine.medical_specialty ,Article Subject ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,030209 endocrinology & metabolism ,Disease ,Diseases of the endocrine glands. Clinical endocrinology ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Immune system ,Diabetes mellitus ,Remission phase ,medicine ,030212 general & internal medicine ,Autoimmune disease ,Type 1 diabetes ,Endocrine and Autonomic Systems ,business.industry ,Insulin ,Retrospective cohort study ,medicine.disease ,RC648-665 ,business ,Research Article - Abstract
Type 1 diabetes mellitus (DM) is characterized by irreversible, autoimmune, pancreatic β-cell destruction. During the disease, some patients experience a phase of Partial Clinical Remission (PCR) known as “honeymoon.” This is a transitory period that is characterized by insulin production by residual β cells following DM diagnosis and initiating the insulin therapy. In this study, we aimed to evaluate the influence of insulin production on immune system after the onset of diabetes, and we showed that the duration of honeymoon period could be related to the onset of other autoimmune conditions. For this retrospective study, 159 children aged between 11 and 18 years with type 1 DM were eligible. They have been diagnosed diabetes at least 10 years ago and use exogenous insulin. Our results showed that younger age at the onset of Type 1 DM in children, predicts Celiac Disease. Female sex and low HCO3 levels at the onset of DM had a high predictive value on patients who did not experience longer Partial Clinical Remission phase. Patients with higher BMI at the diagnosis of DM experienced shorter honeymoon period than the average. Smaller of our patients who diagnosed just DM have more than 297 days honeymoon period with respect to patients with one associated autoimmune disease. This may be due to a continuous and prolonged stimulation of immune system during the period of honeymoon that predispose the patient to develop other TH1 diseases. The patients who experienced more than 297 days Partial Clinical Remission seem under risk of developing one other autoimmune disease more than the patients who experienced less than 297 days Partial Clinical Remission. We have to consider that this observation is very intriguing because many protocols spring-up to try prolonging the honeymoon period in patients with autoimmune DM. If this aim is important from a metabolic point of view, long follow-ups are needed to be sure that the risk of other autoimmune diseases does not increase.
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- 2020
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14. Interferon Alfa Therapy in an Infant with Juvenile Chronic Myelogenous Leukemia
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Carlo Tolone, G. Canino, M. D'Avanzo, R Toraldo, F Iafusco, V Pistoia, F Vetrano, Toraldo, Roberto, Vetrano, F, Pistoia, V, Tolone, Carlo, Canino, G, D'Avanzo, M, and Iafusco, F.
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Male ,Oncology ,medicine.medical_specialty ,medicine.medical_treatment ,Juvenile chronic myelogenous leukemia ,Alpha (ethology) ,Alpha interferon ,Leukocyte Count ,Antigens, CD ,Leukemia, Myelogenous, Chronic, BCR-ABL Positive ,Internal medicine ,Leukocytes ,medicine ,Humans ,Interferon alfa ,Chemotherapy ,business.industry ,Lymphoblast ,Remission Induction ,Infant ,Interferon-alpha ,Hematology ,Immunotherapy ,Cytokine ,Pediatrics, Perinatology and Child Health ,Immunology ,business ,medicine.drug - Abstract
We describe an infant with juvenile chronic myelogenous leukemia (JCML), the diagnosis of which was made by the characteristic clinical and hematologic findings. The absence of a related HLA-compatible donor for bone marrow transplantation coupled with the awareness that chemotherapy is usually ineffective prompted our decision to treat the patient with lymphoblastoid interferon-alpha [alpha(Ly)-IFN]. During the 26-month course of treatment with alpha(Ly)-IFN an incomplete regression of hematologic and clinical findings was achieved. The above results, along with the easy administration and absence of considerable side effects, suggest that alpha(Ly)-IFN may be a useful therapeutic tool in patients affected by JCML awaiting bone marrow transplantation.
- Published
- 1995
15. Heterogeneity of the erythropoietic defect in two cases of Aase-Smith syndrome
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Santinelli R, V Pistoia, R Toraldo, C Tolone, F Iafusco, G Canino, Michele D'Avanzo, A. Corcione, D'Avanzo, M, Pistoia, V, Santinelli, R, Tolone, Carlo, Toraldo, Roberto, Corcione, A, Canino, G, and Iafusco, F.
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Male ,Anemia ,Red-Cell Aplasia, Pure ,AASE-SMITH SYNDROME ,hemic and lymphatic diseases ,Medicine ,Humans ,Erythropoiesis ,Aplastic anemia ,Red Cell ,business.industry ,Infant ,Hematology ,Syndrome ,medicine.disease ,Oncology ,Thumb ,Recien nacido ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Immunology ,Red cell aplasia ,Female ,business ,In vitro growth - Abstract
Here we report two children with Aase-Smith syndrome (triphalangeal thumbs and congenital red cell plasia). In vitro growth of erythroid colonies was normal in the first patient and totally absent in the other. In both patients, treatment with glucocorticoids induced remission of anemia. Our results suggest that the different growth patterns of erythroid colonies observed in the two patients could reflect the defect of erythroid differentiation occurring at discrete maturational levels.
- Published
- 1994
16. Effect of measles-mumps-rubella vaccination on polymorphonuclear neutrophil functions in children
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Roberto Toraldo, R. Ianniello, C Tolone, F Iafusco, G Canino, Michele D'Avanzo, P. Catalanotti, F. Galdiero, Toraldo, Roberto, Tolone, Carlo, Catalanotti, Piergiorgio, Ianniello, R, D'Avanzo, M, Canino, G, Galdiero, F, and Iafusco, F.
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Male ,Measles-Mumps-Rubella Vaccine ,Fever ,Neutrophils ,Measles Vaccine ,Mumps Vaccine ,Granulocyte ,Measles ,Rubella ,Immunity ,medicine ,Cell Adhesion ,Humans ,Rubella Vaccine ,Child ,Respiratory Burst ,business.industry ,Chemotaxis ,General Medicine ,medicine.disease ,Vaccination ,Chemotaxis, Leukocyte ,Drug Combinations ,medicine.anatomical_structure ,Italy ,Evaluation Studies as Topic ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Immunology ,Female ,Viral disease ,business - Abstract
Adherence, metabolic burst and chemotaxis of polymorphonuclear neutrophils (PMNs) were examined in 15 children before and seven days after measles-mumps-rubella vaccine administration. In all children, PMN functions were significantly reduced on the seventh day. Adherence, metabolic burst and chemotaxis tested in three subjects one month after vaccination had returned to normal values. Only two children presented transient hyperpyrexia. We conclude that measles-mumps-rubella vaccine administration suppresses PMN functions without clinical consequences. This is probably because attenuated strains of vaccine viruses do not replicate in lymphoid tissues as extensively as do wild-type strains.
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- 1992
17. Factor VIII response to vasopressin in nephrogenic diabetes insipidus
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Santinelli R, Roberto Toraldo, Antonio Fazzone, Maria L. Papa, F Iafusco, Michele D'Avanzo, C Tolone, D'Avanzo, M, Toraldo, Roberto, Fazzone, A, Papa, Ml, Santinelli, R, Tolone, Carlo, and Iafusco, F.
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medicine.medical_specialty ,Vasopressin ,Factor VIII ,medicine.diagnostic_test ,Vasopressins ,business.industry ,medicine.medical_treatment ,Stimulation ,Venous blood ,Control subjects ,Nephrogenic diabetes insipidus ,medicine.disease ,Endocrinology ,Child, Preschool ,Internal medicine ,von Willebrand Factor ,Pediatrics, Perinatology and Child Health ,Obligate carrier ,medicine ,Humans ,business ,Saline ,Diabetes Insipidus ,Partial thromboplastin time - Abstract
gested that the factor VIII response to DDAVP is a useful test for diagnosing NDI and for identifying carriers. Subsequently, Ohzeki et al., 2 however, showed strong FVIIIC and FVIIIR:Ag responses after DDAVP stimulus of a neonate with NDI. We studied the increase in the levels of FVIIIR:Ag and FVIIIC after DDAVP stimulation in two NDI patients, respectively aged 2 and 5 years, and their obligate carrier mothers. DDAVP (0.30 #g/kg; maximum dose, 24 ~g) was diluted to a final concentration of 0.5 ~g/ml in physiologic saline solution and infused intravenously for 20 minutes. Venous blood samples were collected just before and 1 hour after infusion. FVIIIR:Ag was assayed by quantitative immunoeleetrophoresis with commercial monospecific antiserum (Clottimmune, aggregated human 3,-globulin-associated protein, Behringwerke, Marburg, Germany). FVIIIC was assayed in fresh samples by a one-stage method based on the partial thromboplastin time, with factor VIII-deficient plasma (Instrumentation Laboratories, Lexington, Ky.) used as substrate. Factor VIII responses were compared with mean _ 2 SD for the control group (z score). As shown in the Table, after DDAVP stimulation the first patient had no marked increase in either FVIIIC or FVIIIR:Ag levels; the second patient had a normal increase in the FVIIIC level but no FVII1R:Ag response. In the two obligate carriers, as in the second patient, there was a normal increase of FVIIIC after stimulus but no increase of FVIIIR:Ag. Our results partially differ from those of Kobrinsky. A high response of FVIIIR:Ag and FVIIIC to DDAVP stimulus was also found in the patient reported by Ohzeki. In the obligate carriers whom we studied, the FVIIIC response to DDAVP did not significantly differ from that of control subjects, but the FVIIIR:Ag response was significantly reduced in the first carrier (10% of reference values) and was completely absent in the second. On the basis of these results, one can assume NDI to be a heterogeneous illness, at least regarding the FVIII response to DDDAVP stimulus. Caution should therefore be exercised in using the test for identifying carriers or diagnosing the illness.
- Published
- 1991
18. Decreased Adherence of Polymorphonuclear Neutrophils in Children with Viral Infection
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Roberto Toraldo, C Tolone, F. Galdiero, P. Catalanotti, F Iafusco, Michele D'Avanzo, R. Ianniello, Tolone, Carlo, Toraldo, Roberto, Catalanotti, Piergiorgio, Ianniello, R, D'Avanzo, M, Galdiero, F, and Iafusco, F.
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Male ,Hepatitis, Viral, Human ,Mononucleosis ,Neutrophils ,Pneumonia, Viral ,Viral infection ,Enteritis ,Polymorphonuclear Neutrophils ,medicine ,Humans ,Infectious Mononucleosis ,Child ,Hepatitis ,business.industry ,Infant ,Leukocyte Adherence Inhibition Test ,General Medicine ,medicine.disease ,Pneumonia ,El Niño ,Virus Diseases ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Immunology ,Female ,Viral disease ,business - Abstract
The adherence of polymorphonuclear neutrophils was examined in 16 children affected by enteritis, pneumonia, hepatitis and infectious mononucleosis. The results were compared with those obtained in 30 healthy adult volunteers and in 15 healthy children of the same age. Adhesiveness was significantly higher in adults than in healthy children, and significantly higher in healthy children than in children with viral infection. In 7 patients tested one month after regression of the disorder, PMN adhesiveness had returned to normal.
- Published
- 1989
19. AASE-SMITH SYNDROME: REPORT OF A NEW CASE
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Vito Pistoia, Michele D'Avanzo, Roberto Toraldo, Santinelli R, C Tolone, F Iafusco, D'Avanzo, M, Pistoia, V, Tolone, Carlo, Toraldo, Roberto, Santinelli, R, and Iafusco, F.
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Pediatrics ,medicine.medical_specialty ,business.industry ,Micrognathism ,Anemia, Aplastic ,Infant ,Syndrome ,Hematology ,AASE-SMITH SYNDROME ,Blackfan-Diamond Disease ,Cleft Palate ,Fanconi Anemia ,Thumb ,Recien nacido ,medicine ,Humans ,Abnormalities, Multiple ,Female ,business ,Foot (unit) - Published
- 1988
20. Thrombosis and Thrombotic Risk in Athletes.
- Author
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Miele C, Mennitti C, Gentile A, Veneruso I, Scarano C, Vastola A, La Monica I, Uomo F, Iafusco F, Capasso F, Pero R, D'Argenio V, Lombardo B, Tinto N, Di Micco P, Scudiero O, Frisso G, and Mazzaccara C
- Abstract
The hemostatic system is characterized by a delicate balance between pro- and anticoagulant forces, and the smallest alteration can cause serious events such as hemorrhages or thrombosis. Although exercise has been shown to play a protective role in athletes, several factors may increase the risk of developing venous thromboembolism (VTE), including hemoconcentration induced by exertion, immobilization following sports injuries, frequent long-distance flights, dehydration, and the use of oral contraceptives in female athletes. Biomarkers such as D-dimer, Factor VIII, thrombin generation, inflammatory cytokines, and leukocyte count are involved in the diagnosis of deep vein thrombosis (DVT), although their interpretation is complex and may indicate the presence of other conditions such as infections, inflammation, and heart disease. Therefore, the identification of biomarkers with high sensitivity and specificity is needed for the screening and early diagnosis of thromboembolism. Recent evidence about the correlation between the intensity of physical activity and VTE is divergent, whereas the repeated gestures in sports such as baseball, hockey, volleyball, swimming, wrestling, or, on the other hand, soccer players, runners, and martial art training represent a risk factor predisposing to the onset of upper and lower DVT. Anticoagulant therapy is the gold standard, reducing the risk of serious complications such as pulmonary embolism. The aim of this review is to provide a general overview about the interplay between physical exercise and the risk of thromboembolism in athletes, focusing on the main causes of thrombosis in professional athletes and underlying the need to identify new markers and therapies that can represent a valid tool for safeguarding the athlete's health.
- Published
- 2024
- Full Text
- View/download PDF
21. Can obesity exacerbate hyperinsulinaemia in the presence of the mutation of an insulin receptor gene?
- Author
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Calcaterra V, Zuccotti G, Mari A, Iafusco F, Maione G, Iafusco D, and Tinto N
- Subjects
- Adolescent, Female, Humans, Male, Mutation, Obesity complications, Obesity genetics, Receptor, Insulin genetics, Receptor, Insulin metabolism, Diabetes Mellitus, Hyperinsulinism complications, Hyperinsulinism genetics, Insulin Resistance genetics, Obesity, Morbid
- Abstract
Insulin receptor gene (INSR) mutations are a relatively rare and diverse cause of insulin resistance (IR), typically associated with a lean phenotype. However, we present a unique case of severe obesity and Type A severe IR syndrome in a patient with a heterozygous mutation of the INSR gene. Next Generation Sequencing (NGS) analysis was conducted to identify the genetic variant. A 16-year-old girl with severe obesity (BMI-SDS +2.79) exhibited markedly elevated basal insulin levels (>800 mcU/L). Despite obesity being a known cause of hyperinsulinism, further investigation was pursued due to the severity of hyperinsulinaemia. A heterozygous nucleotide variant at the donor splicing site of intron 13 (c.2682 + 1G > A) of the INSR gene was identified. This mutation was also present in the proband's normal-weight mother and her two younger brothers with obesity. Metformin treatment provided limited benefits, but subsequent liraglutide therapy resulted in weight loss and decreased IR 3 months after initiation. Our findings suggest that obesity can exacerbate hyperinsulinaemia in individuals with an INSR gene mutation. Although INSR signalling defects play a minor role in the aetiology of IR, they should still be considered in the diagnostic pathway, particularly in severe phenotypes. Clinicians should not overlook the possibility of genetic causes in patients with obesity and IR, as they may require personalized management approaches., (© 2023 World Obesity Federation.)
- Published
- 2023
- Full Text
- View/download PDF
22. An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment.
- Author
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Di Candia F, Di Iorio V, Tinto N, Bonfanti R, Iovino C, Rosanio FM, Fedi L, Iafusco F, Arrigoni F, Malesci R, Simonelli F, Rigamonti A, Franzese A, and Mozzillo E
- Subjects
- Humans, Child, Adult, Thiamine therapeutic use, Early Diagnosis, Diabetes Mellitus diagnosis, Diabetes Mellitus drug therapy, Diabetes Mellitus genetics, Hearing Loss, Sensorineural diagnosis, Hearing Loss, Sensorineural drug therapy, Hearing Loss, Sensorineural genetics, Anemia, Megaloblastic diagnosis, Anemia, Megaloblastic drug therapy, Deafness complications, Deafness drug therapy
- Abstract
Background: Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular complications, and nonautoimmune diabetes. Macrocytic anemia and diabetes may be responsive to high-dosage thiamine treatment, in contrast to sensorineural deafness. Little is known about the efficacy of thiamine treatment on ocular manifestations., Cases Presentation: Our objective is to report data from four Italian TRMA patients: in Cases 1, 2 and 3, the diagnosis of TRMA was made at 9, 14 and 27 months. In 3 out of 4 subjects, thiamine therapy allowed both normalization of hyperglycemia, with consequent insulin suspension, and macrocytic anemia. In all Cases, thiamine therapy did not resolve the clinical manifestation of deafness. In Cases 2 and 3, follow-up showed no blindness, unlike Case 4, in which treatment was started for megaloblastic anemia at age 7 but was increased to high doses only at age 25, when the genetic diagnosis of TRMA was performed., Conclusions: Early institution of high-dose thiamine supplementation seems to prevent the development of retinal changes and optic atrophy in TRMA patients. The spectrum of clinical manifestations is broad, and it is important to describe known Cases to gain a better understanding of this rare disease., (© 2023. The Author(s).)
- Published
- 2023
- Full Text
- View/download PDF
23. The Pathogenic Diagnosis in Pediatric Diabetology: Next Generation Sequencing and Precision Therapy.
- Author
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Maione G, Iafusco F, Zanfardino A, Piscopo A, Ozen G, Iafusco D, and Tinto N
- Subjects
- Adolescent, Humans, Child, Quality of Life, Genetic Testing methods, Mutation, High-Throughput Nucleotide Sequencing methods, Diabetes Mellitus
- Abstract
In pediatric diabetology, a precise diagnosis is very important because it allows early and correct clinical management of the patient. Monogenic diabetes (MD), which accounts for 1-6% of all pediatric-adolescent diabetes cases, is the most relevant example of precision medicine. The definitive diagnosis of MD, possible only by genetic testing, allows us to direct patients to more appropriate therapy in relation to the identified mutation. In some cases, MD patients can avoid insulin and be treated with oral hypoglycemic drugs with a perceptible impact on both the quality of life and the healthcare costs. However, the genetic and phenotypic heterogeneity of MD and the overlapping clinical characteristics between different forms, can complicate the diagnostic process. In recent years, the development of Next-Generation Sequencing (NGS) methodology, which allows the simultaneous analysis of multiple genes, has revolutionized molecular diagnostics, becoming the cornerstone of MD precision diagnosis. We report two cases of patients with clinical suspects of MD in which a genetic test was carried out, using a NGS multigenic panel, and it clarified the correct pathogenesis of diabetes, allowing us to better manage the disease both in probands and other affected family members.
- Published
- 2023
- Full Text
- View/download PDF
24. Metabolic Treatment of Wolfram Syndrome.
- Author
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Iafusco D, Zanfardino A, Piscopo A, Curto S, Troncone A, Chianese A, Rollato AS, Testa V, Iafusco F, Maione G, Pennarella A, Boccabella L, Ozen G, Palma PL, Mazzaccara C, Tinto N, and Miraglia Del Giudice E
- Subjects
- Adolescent, Adult, Child, Humans, Quality of Life, Young Adult, Neurodegenerative Diseases, Wolfram Syndrome diagnosis, Wolfram Syndrome genetics, Wolfram Syndrome therapy
- Abstract
Wolfram Syndrome (WS) is a very rare genetic disorder characterized by several symptoms that occur from childhood to adulthood. Usually, the first clinical sign is non-autoimmune diabetes even if other clinical features (optic subatrophy, neurosensorial deafness, diabetes insipidus) may be present in an early state and may be diagnosed after diabetes' onset. Prognosis is poor, and the death occurs at the median age of 39 years as a consequence of progressive respiratory impairment, secondary to brain atrophy and neurological failure. The aim of this paper is the description of the metabolic treatment of the WS. We reported the experience of long treatment in patients with this syndrome diagnosed in pediatric age and followed also in adult age. It is known that there is a correlation between metabolic control of diabetes, the onset of other associated symptoms, and the progression of the neurodegenerative alterations. Therefore, a multidisciplinary approach is necessary in order to prevent, treat and carefully monitor all the comorbidities that may occur. An extensive understanding of WS from pathophysiology to novel possible therapy is fundamental and further studies are needed to better manage this devastating disease and to guarantee to patients a better quality of life and a longer life expectancy.
- Published
- 2022
- Full Text
- View/download PDF
25. NGS Analysis Revealed Digenic Heterozygous GCK and HNF1A Variants in a Child with Mild Hyperglycemia: A Case Report.
- Author
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Iafusco F, Maione G, Mazzaccara C, Di Candia F, Mozzillo E, Franzese A, and Tinto N
- Abstract
Monogenic diabetes (MD) represents a heterogeneous group of disorders whose most frequent form is maturity-onset diabetes of the young (MODY). MD is predominantly caused by a mutation in a single gene. We report a case of a female patient with suspected MD and a positive family history for diabetes and obesity. In this patient, two gene variants have been identified by next-generation sequencing (NGS): one in the Glucokinase ( GCK) gene reported in the Human Gene Mutation Database (HGMD) and in the literature associated with GCK/MODY, and the other in the hepatocyte nuclear factor 1A ( HNF1A ) gene not previously described. The GCK variant was also identified in the hyperglycemic father, whereas the HNF1A variant was present in the mother. This new case of digenic GCK/HNF1A variants identified in a hyperglycemic subject, evidences the importance of NGS analysis in patients with suspected MD. In fact, this methodology will allow us to both increase the number of diagnoses and to identify mutations in more than one gene, with a better understanding of the genetic cause, and the clinical course, of the disease.
- Published
- 2021
- Full Text
- View/download PDF
26. Cystic Fibrosis-Related Diabetes (CFRD): Overview of Associated Genetic Factors.
- Author
-
Iafusco F, Maione G, Rosanio FM, Mozzillo E, Franzese A, and Tinto N
- Abstract
Cystic fibrosis (CF) is the most common autosomal recessive disease in the Caucasian population and is caused by mutations in the CF transmembrane conductance regulator ( CFTR ) gene that encodes for a chloride/bicarbonate channel expressed on the membrane of epithelial cells of the airways and of the intestine, as well as in cells with exocrine and endocrine functions. A common nonpulmonary complication of CF is cystic fibrosis-related diabetes (CFRD), a distinct form of diabetes due to insulin insufficiency or malfunction secondary to destruction/derangement of pancreatic betacells, as well as to other factors that affect their function. The prevalence of CFRD increases with age, and 40-50% of CF adults develop the disease. Several proposed hypotheses on how CFRD develops have emerged, including exocrine-driven fibrosis and destruction of the entire pancreas, as well as contrasting theories on the direct or indirect impact of CFTR mutation on islet function. Among contributors to the development of CFRD, in addition to CFTR genotype, there are other genetic factors related and not related to type 2 diabetes. This review presents an overview of the current understanding on genetic factors associated with glucose metabolism abnormalities in CF.
- Published
- 2021
- Full Text
- View/download PDF
27. Prenatal diagnosis of HNF1b mutation allows recognition of neonatal dysglycemia.
- Author
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Iafusco F, Meola S, Pecoraro C, Mazzaccara C, Iafusco D, and Tinto N
- Published
- 2021
- Full Text
- View/download PDF
28. Congenital diabetes mellitus.
- Author
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Iafusco D, Zanfardino A, Bonfanti R, Rabbone I, Tinto N, Iafusco F, Meola S, Gicchino MF, Ozen G, Casaburo F, Piscopo A, Miraglia Del Giudice E, and Barbetti F
- Subjects
- Blood Glucose analysis, Diabetes Complications, Diabetes Mellitus classification, Diabetes Mellitus drug therapy, Diabetes Mellitus genetics, Germinal Center Kinases genetics, Humans, Hyperglycemia, Hypoglycemic Agents therapeutic use, Infant, Newborn, Infant, Small for Gestational Age blood, Insulin therapeutic use, Mutation, Rare Diseases classification, Rare Diseases complications, Rare Diseases drug therapy, Sulfonylurea Compounds therapeutic use, Diabetes Mellitus congenital, Rare Diseases congenital
- Abstract
Congenital diabetes mellitus is a rare disorder characterized by hyperglycemia that occurs shortly after birth. We define "Diabetes of Infancy" if hyperglycemia onset before 6 months of life. From the clinical point of view, we distinguish two main types of diabetes of infancy: transient (TNDM), which remits spontaneously, and permanent (PNDM), which requires lifelong treatment. TNDM may relapse later in life. About 50% of cases are transient (TNDM) and 50% permanent. Clinical manifestations include severe intrauterine growth retardation, hyperglycemia and dehydration. A wide range of different associated clinical signs including facial dysmorphism, deafness and neurological, cardiac, kidney or urinary tract anomalies are reported. Developmental delay and learning difficulties may also be observed. In this paper we review all the causes of congenital diabetes and all genes and syndromes involved in this pathology. The discovery of the pathogenesis of most forms of congenital diabetes has made it possible to adapt the therapy to the diagnosis and in the forms of alteration of the potassium channels of the pancreatic Beta cells the switch from insulin to glibenclamide per os has greatly improved the quality of life. Congenital diabetes, although it is a very rare form, has been at the must of research in recent years especially for pathogenesis and pharmacogenetics. The most striking difference compared to the more frequent autoimmune diabetes in children (type 1 diabetes) is the possibility of treatment with hypoglycemic agents and the apparent lower frequency of chronic complications.
- Published
- 2020
- Full Text
- View/download PDF
29. The Association of Autoimmune Diseases with Type 1 Diabetes Mellitus in Children Depends Also by the Length of Partial Clinical Remission Phase (Honeymoon).
- Author
-
Ozen G, Zanfardino A, Confetto S, Piscopo A, Casaburo F, Tinto N, Iafusco F, Ozen G, Miraglia Del Giudice E, Tasar MA, Yilmaz A, and Iafusco D
- Abstract
Type 1 diabetes mellitus (DM) is characterized by irreversible, autoimmune, pancreatic β -cell destruction. During the disease, some patients experience a phase of Partial Clinical Remission (PCR) known as " honeymoon ." This is a transitory period that is characterized by insulin production by residual β cells following DM diagnosis and initiating the insulin therapy. In this study, we aimed to evaluate the influence of insulin production on immune system after the onset of diabetes, and we showed that the duration of honeymoon period could be related to the onset of other autoimmune conditions. For this retrospective study, 159 children aged between 11 and 18 years with type 1 DM were eligible. They have been diagnosed diabetes at least 10 years ago and use exogenous insulin. Our results showed that younger age at the onset of Type 1 DM in children, predicts Celiac Disease. Female sex and low HCO
3 levels at the onset of DM had a high predictive value on patients who did not experience longer Partial Clinical Remission phase. Patients with higher BMI at the diagnosis of DM experienced shorter honeymoon period than the average. Smaller of our patients who diagnosed just DM have more than 297 days honeymoon period with respect to patients with one associated autoimmune disease. This may be due to a continuous and prolonged stimulation of immune system during the period of honeymoon that predispose the patient to develop other TH1 diseases. The patients who experienced more than 297 days Partial Clinical Remission seem under risk of developing one other autoimmune disease more than the patients who experienced less than 297 days Partial Clinical Remission. We have to consider that this observation is very intriguing because many protocols spring-up to try prolonging the honeymoon period in patients with autoimmune DM. If this aim is important from a metabolic point of view, long follow-ups are needed to be sure that the risk of other autoimmune diseases does not increase., Competing Interests: The authors declare they have no conflicts of interest., (Copyright © 2020 Gulsum Ozen et al.)- Published
- 2020
- Full Text
- View/download PDF
30. Molecular diagnosis of MODY3 permitted to reveal a de novo 12q24.31 deletion and to explain a complex phenotype in a young diabetic patient.
- Author
-
Iafusco F, De Sanctis P, Pirozzi D, Capone S, Lombardo B, Gambale A, Confetto S, Zanfardino A, Iolascon A, Pastore L, Iafusco D, and Tinto N
- Subjects
- Child, Diabetes Mellitus genetics, Female, Humans, Phenotype, Sequence Deletion genetics, Chromosomes, Human, Pair 12 genetics, Diabetes Mellitus, Type 2 diagnosis, Diabetes Mellitus, Type 2 genetics
- Published
- 2019
- Full Text
- View/download PDF
31. [Risk factors in calcium urolithiasis].
- Author
-
Lama G, Amendola E, Aurino AM, Carbone MG, Valentino L, and Iafusco F
- Subjects
- Adolescent, Child, Child, Preschool, Female, Follow-Up Studies, Humans, Male, Retrospective Studies, Risk Factors, Urinary Calculi urine, Calcium urine, Urinary Calculi etiology
- Abstract
The aim of the study has been to evaluate, retrospectively, if the association of urolithiasis different pathogenetic factors increases stone formation and recurrences. The study included 41 children, 20 males and 21 females, aged 3-15 years, divided into three groups: patients with hypercalciuric or normocalciuric urolithiasis and isolated hypercalciuria. In all of them renal function, blood and urinary pH, serum and urinary electrolytic levels, citraturia (dosed with anenzymatic quantitative method), oxalaturia (enzymatic colorimetric method), urinary glycosaminoglycans (dosed by means of cetylpyridinum chloride precipitation and quantitative analysis) have been considered. Statistical analysis was done using Student's "t"-test, with p < 0.05. In all children with hypercalciuric urolithiasis who during the follow-up presented a decreased citraturia, the number of recurrences increased and was above two. The children who during the follow-up remained hypercalciuric without urolithiasis, in spite of the high familiarity, presented an increased citraturia. In conclusion the association between hypercalciuria and low citraturia increases the risk of stone formation and recurrences in children with calcic urolithiasis.
- Published
- 1996
32. Effect of interferon-alpha therapy in a patient with common variable immunodeficiency and chronic Epstein-Barr virus infection.
- Author
-
Toraldo R, D'Avanzo M, Tolone C, Canino G, Iafusco F, Notarangelo LD, Ugazio A, and Cirillo C
- Subjects
- Adolescent, Chronic Disease, Humans, Male, Antiviral Agents therapeutic use, Common Variable Immunodeficiency therapy, Herpesviridae Infections therapy, Herpesvirus 4, Human, Interferon-alpha therapeutic use, Tumor Virus Infections therapy
- Abstract
We report an 18-year-old boy with common variable immunodeficiency who presented with splenomegaly as well as left axillary and lateral cervical lymphadenopathy. Main laboratory investigations showed severe thrombocytopenia. Epstein-Barr virus (EBV) DNA was detected in the patient's throat-washing specimens and lymph node biopsy. Lymphocytes from the lymph node biopsy were also positive for EBV nuclear antigen. Serology for EBV and cytomegalovirus was negative. A therapeutic attempt with acyclovir did not influence the course of infection. Six months' treatment with human lymphoblastoid interferon-alpha (IFN alfa) brought about the normalization of clinical and hematologic conditions. Detection on throat-washing specimens carried out 1 year after therapy was negative. Our preliminary experience suggests that human lymphoblastoid IFN-alpha is a valid alternative in therapy of immunodeficient EB virus-infected patients.
- Published
- 1995
- Full Text
- View/download PDF
33. Interferon alfa therapy in an infant with juvenile chronic myelogenous leukemia.
- Author
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Toraldo R, Vetrano F, Pistoia V, Tolone C, Canino G, D'Avanzo M, and Iafusco F
- Subjects
- Antigens, CD analysis, Antigens, CD drug effects, Humans, Infant, Interferon-alpha administration & dosage, Leukemia, Myelogenous, Chronic, BCR-ABL Positive diagnosis, Leukemia, Myelogenous, Chronic, BCR-ABL Positive immunology, Leukocyte Count drug effects, Leukocytes drug effects, Leukocytes immunology, Male, Remission Induction, Interferon-alpha therapeutic use, Leukemia, Myelogenous, Chronic, BCR-ABL Positive therapy
- Abstract
We describe an infant with juvenile chronic myelogenous leukemia (JCML), the diagnosis of which was made by the characteristic clinical and hematologic findings. The absence of a related HLA-compatible donor for bone marrow transplantation coupled with the awareness that chemotherapy is usually ineffective prompted our decision to treat the patient with lymphoblastoid interferon-alpha [alpha(Ly)-IFN]. During the 26-month course of treatment with alpha(Ly)-IFN an incomplete regression of hematologic and clinical findings was achieved. The above results, along with the easy administration and absence of considerable side effects, suggest that alpha(Ly)-IFN may be a useful therapeutic tool in patients affected by JCML awaiting bone marrow transplantation.
- Published
- 1995
- Full Text
- View/download PDF
34. Heterogeneity of the erythropoietic defect in two cases of Aase-Smith syndrome.
- Author
-
D'Avanzo M, Pistoia V, Santinelli R, Tolone C, Toraldo R, Corcione A, Canino G, and Iafusco F
- Subjects
- Child, Preschool, Female, Humans, Infant, Male, Red-Cell Aplasia, Pure blood, Syndrome, Erythropoiesis, Red-Cell Aplasia, Pure congenital, Thumb abnormalities
- Abstract
Here we report two children with Aase-Smith syndrome (triphalangeal thumbs and congenital red cell plasia). In vitro growth of erythroid colonies was normal in the first patient and totally absent in the other. In both patients, treatment with glucocorticoids induced remission of anemia. Our results suggest that the different growth patterns of erythroid colonies observed in the two patients could reflect the defect of erythroid differentiation occurring at discrete maturational levels.
- Published
- 1994
- Full Text
- View/download PDF
35. Factor VIII response to vasopressin in nephrogenic diabetes insipidus.
- Author
-
D'Avanzo M, Toraldo R, Fazzone A, Papa ML, Santinelli R, Tolone C, and Iafusco F
- Subjects
- Child, Preschool, Diabetes Insipidus metabolism, Humans, von Willebrand Factor metabolism, Diabetes Insipidus diagnosis, Factor VIII metabolism, Vasopressins
- Published
- 1991
- Full Text
- View/download PDF
36. [Evaluation of the gestational age of the newborn by determination of serum alpha-1-fetoprotein].
- Author
-
Iafusco F, Ansanelli V, and Galdo-Capotorti MA
- Subjects
- Humans, Fetal Proteins analysis, Gestational Age, Infant, Newborn, Infant, Premature, alpha-Fetoproteins analysis
- Published
- 1975
37. [Thanatophoric nanism[].
- Author
-
Iafusco F and D'ascoli C
- Subjects
- Dwarfism diagnostic imaging, Dwarfism pathology, Female, Humans, Infant, Newborn, Male, Pregnancy, Radiography, Dwarfism diagnosis
- Published
- 1976
38. [Evaluation of the usefulness of some biohumoral indices for diagnosis of infection in newborn infants].
- Author
-
Iafusco F, Ansanelli V, Di Lena C, and Galdo Capotorti M
- Subjects
- Fibrinogen analysis, Haptoglobins analysis, Humans, Immunoglobulin M analysis, Infant, Newborn, Leukocyte Count, Neutrophils, Orosomucoid analysis, Platelet Count, Sepsis diagnosis, Bacterial Infections diagnosis, Infant, Newborn, Diseases diagnosis
- Published
- 1981
39. [Angiochondropathia punctata].
- Author
-
Iafusco F, D'avanzo M, and Stefani GS
- Subjects
- Female, Humans, Infant, Newborn, Chondrodysplasia Punctata, Infant, Newborn, Diseases
- Published
- 1976
40. [Ultrastructural characteristics of lamellar exfoliation of the newborn. Report of 2 cases].
- Author
-
Iafusco F, Cuccurullo L, D'Avanzo M, and Manocchio G
- Subjects
- Female, Humans, Ichthyosis pathology, Infant, Infant, Newborn, Microscopy, Electron, Skin Diseases, Vesiculobullous pathology, Ichthyosis congenital, Infant, Newborn, Diseases pathology, Skin ultrastructure, Skin Diseases, Vesiculobullous congenital
- Published
- 1974
41. ["Harmonic" short stature child (diagnostic methods, indications and limiations in management unit somatotropin)].
- Author
-
Iafusco F
- Subjects
- Body Constitution, Child, Child, Preschool, Growth Disorders classification, Growth Disorders drug therapy, Humans, Growth Disorders diagnosis, Growth Hormone therapeutic use
- Published
- 1976
42. [Tasks of the pediatrician in the assistance to high-risk newborn infants].
- Author
-
Iafusco F
- Subjects
- Body Temperature, Humans, Intensive Care Units, Resuscitation, Water-Electrolyte Balance, Infant, Newborn, Infant, Newborn, Diseases therapy
- Published
- 1974
43. [Predisposition to the round back in relation to the phases of growth].
- Author
-
Iafusco F
- Subjects
- Adolescent, Age Factors, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Kyphosis etiology, Male, Scheuermann Disease etiology, Spine growth & development
- Published
- 1975
44. [A case of accelerated skeletal maturation (Marshall's syndrome)].
- Author
-
Iafusco F, D'Avanzo M, and Ansanelli V
- Subjects
- Female, Humans, Infant, Newborn, Bone Diseases, Developmental congenital, Infant, Newborn, Diseases
- Published
- 1977
45. [Behavior of serum lysozyme in infectious diseases in newborn infants].
- Author
-
Iafusco F, Ansanelli V, and Di Lena C
- Subjects
- Humans, Infant, Newborn, Meningitis enzymology, Otitis enzymology, Respiratory Tract Infections enzymology, Communicable Diseases enzymology, Infant, Newborn, Diseases enzymology, Muramidase blood
- Published
- 1977
46. [Newborn infants with convulsions].
- Author
-
Iafusco F and Ansanelli V
- Subjects
- Anticonvulsants therapeutic use, Epilepsy diagnosis, Humans, Infant, Newborn, Prognosis, Infant, Newborn, Diseases drug therapy, Infant, Newborn, Diseases etiology, Seizures drug therapy, Seizures etiology
- Published
- 1976
47. Aase-Smith syndrome: report of a new case.
- Author
-
D'Avanzo M, Pistoia V, Tolone C, Toraldo R, Santinelli R, and Iafusco F
- Subjects
- Cleft Palate, Female, Humans, Infant, Micrognathism, Syndrome, Abnormalities, Multiple, Anemia, Aplastic, Fanconi Anemia, Thumb abnormalities
- Published
- 1988
- Full Text
- View/download PDF
48. [Data on the therapy of lung diseases in premature infants with the use of intravenous pyrrolidine-methyltetracvcline].
- Author
-
IAFUSCO F and DI TORO R
- Subjects
- Child, Humans, Infant, Infant, Newborn, Infant, Premature, Lung Diseases, Pyrrolidines, Tetracyclines
- Published
- 1960
49. [On congenital psathyrotic osteogenesis imperfecta].
- Author
-
IAFUSCO F and DI TORO R
- Subjects
- Humans, Osteogenesis Imperfecta
- Published
- 1959
50. [Fracture of the clavicle in newborn infants].
- Author
-
DE BLASIO A and IAFUSCO F
- Subjects
- Child, Humans, Infant, Infant, Newborn, Clavicle, Fractures, Bone, Infant, Newborn, Diseases, Joint Dislocations
- Published
- 1960
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