Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 38
Filter
1.
Dig Liver Dis ; 41(6): 385-9, 2009 Jun.
Article in English | MEDLINE | ID: mdl-18929517

ABSTRACT

BACKGROUND: Cytotoxic T-lymphocyte-associated protein 4 (CTLA4) is a strong candidate gene in autoimmunity susceptibility. In particular, the CTLA4 CT60 A/G dimorphism has been associated with celiac disease (CD) and was reported to be strongly associated with autoimmune thyroid disease (AITD). AIMS: This study aimed to investigate the possible influences of the CTLA4 CT60 A/G polymorphism in the susceptibility of Italian children to CD and in the predisposition to develop AITD in children with CD. PATIENTS AND METHODS: We genotyped 317 Italian celiac children, including 44 patients (13.9%) who developed AITD after CD diagnosis and 350 controls. RESULTS: The CTLA4 CT60 GG genotype distribution did not show any significant difference between children with CD and control population (p=0.4). On the contrary, the frequency of the GG genotype was significantly higher in patients with CD complicated with AITD than in control subjects (p=0.002) and CD patients without AITD (p=0.02). CONCLUSION: Our data show a significant effect of the CTLA4 CT60G allele at the homozygous state on the risk of developing AITD in children with CD and suggest that the reported association of the CTLA4 CT60 A/G polymorphism with CD is limited to the subgroup of patients who are or will be complicated with AITD.


Subject(s)
Antigens, CD/genetics , Celiac Disease/genetics , Polymorphism, Genetic , Thyroiditis, Autoimmune/genetics , Adolescent , CTLA-4 Antigen , Case-Control Studies , Celiac Disease/diagnosis , Celiac Disease/epidemiology , Child , Comorbidity , Female , Follow-Up Studies , Genetic Predisposition to Disease , Genotype , Humans , Italy , Male , Thyroiditis, Autoimmune/diagnosis , Thyroiditis, Autoimmune/epidemiology
2.
Dig Liver Dis ; 39(3): 228-31, 2007 Mar.
Article in English | MEDLINE | ID: mdl-17267307

ABSTRACT

BACKGROUND: Coeliac disease is a complex disorder influenced by environmental and genetic factors. A genome wide linkage study identified the myosin IXB (MYO9B) as a gene possibly associated with coeliac disease. Recently, a Dutch study reported a strong association of a single SNP, rs 2305764, of MYO9B with coeliac disease. However, two successive studies carried out on British and Swedish/Norwegian cohorts reported lack of association of the MYO9B variant with coeliac disease. AIMS: The aim of the present study is to verify the effects of the MYO9B rs 2305764 polymorphism on disease risk in a Mediterranean population of coeliac children. PATIENTS AND METHODS: To address this issue, an association study was performed in 223 (127 females) Italian coeliac children and adolescents and in 600 controls. RESULTS: The allelic frequencies of the MYO9B rs 2305764 polymorphism found in our patients and in the population control were not statistically different (P=0.46). CONCLUSION: The MYO9B gene rs 2305764 polymorphism is not associated to coeliac disease in coeliac children from Southern Italy. This is in accordance with the most recent reports. Ethnic differences or a false positive result might explain the discrepancy with the Dutch study.


Subject(s)
Celiac Disease/genetics , Genetic Predisposition to Disease/genetics , Myosins/genetics , Polymorphism, Single Nucleotide , Adolescent , Case-Control Studies , Child , Child, Preschool , Cohort Studies , Female , Gene Frequency , Genetic Predisposition to Disease/epidemiology , Humans , Infant , Italy/epidemiology , Male , Polymorphism, Genetic , White People/genetics
3.
J Inherit Metab Dis ; 27(2): 187-96, 2004.
Article in English | MEDLINE | ID: mdl-15159649

ABSTRACT

Gyrate atrophy of the choroid and retina is an autosomal recessive chorioretinal dystrophy which leads to a slowly progressive loss of vision. The primary defect is due to a deficiency of the enzyme ornithine delta-aminotransferase, which is responsible for markedly elevated levels of ornithine in plasma and other body fluids. Although several therapeutic regimens have been proposed, the reduction in ornithine accumulation obtained by reducing the intake of its precursor arginine (semisynthetic low-arginine diet) is the one most practised. In this clinical and molecular study we report a patient with hyperornithinaemia and gyrate atrophy of the choroid and retina who had been diagnosed when she was 3 years 9 months old. She also presented mild mental retardation, delayed language development and speech defects. The patient has recently been found to be homozygous for the new Gly91Arg amino acid substitution of the enzyme ornithine delta-aminotransferase. This mutation lies in a region of the mature protein that is considered crucial for the mitochondrial targeting activity. In this patient, a 28-year treatment with a completely natural low-protein diet (0.8 g/kg per day of natural protein) has been able to significantly reduce ornithine plasma levels, and to greatly delay the natural progression of the chorioretinal changes. This study suggests that, in the long-term treatment of gyrate atrophy, the efficacy in slowing the progression of chorioretinal changes and the palatability of a completely natural low-protein diet make this treatment a potentially viable alternative in patients refusing the semisynthetic diet.


Subject(s)
Diet, Protein-Restricted , Gyrate Atrophy/diet therapy , Gyrate Atrophy/pathology , Retinal Degeneration/diet therapy , Retinal Degeneration/pathology , Adult , Child, Preschool , Choroid/pathology , Electrooculography , Female , Follow-Up Studies , Gyrate Atrophy/genetics , Homozygote , Humans , Ornithine/blood , Ornithine-Oxo-Acid Transaminase/genetics , Retina/pathology , Retinal Degeneration/genetics , Visual Fields
4.
J Eur Acad Dermatol Venereol ; 17(2): 204-5, 2003 Mar.
Article in English | MEDLINE | ID: mdl-12705753

ABSTRACT

The authors report a case of congenital rubella in a 7-month-old female infant presenting a Blueberry Muffin Rash. Blueberry Muffin Syndrome is a cutaneous manifestation characterized by widespread maculo papular lesions of a reddish-blue or magenta colour, due to persistent dermal erythropoiesis in patients with congenital viral infections.


Subject(s)
Erythropoiesis , Pigmentation Disorders/etiology , Rubella/congenital , Skin Diseases/etiology , Female , Humans , Infant
5.
Arch Neurol ; 55(6): 854-6, 1998 Jun.
Article in English | MEDLINE | ID: mdl-9626778

ABSTRACT

OBJECTIVE: To describe a mother and her 2 sons affected by idiopathic intracranial hypertension (IIH), associated in the sons with root irritation symptom. Unlike the other 4 families reported previously, obesity was not present in our patients. DESIGN: Case reports. SETTING: Department of pediatrics in a university school of Medicine, Naples, Italy. PATIENTS: A mother (aged 36 years) and her 2 sons (aged 14 and 9 years) developed IIH at different times. Neuroimaging showed an empty sella in the mother, while IIH was associated with spinal and radicular pain in her 2 sons. The mother and the younger son developed permanent visual loss. CONCLUSIONS: Ophthalmologic follow-up in our patients indicates that IIH is a chronic disease. Surgical treatment should be considered an option.


Subject(s)
Intracranial Hypertension/complications , Intracranial Hypertension/genetics , Pain/etiology , Polyradiculopathy/etiology , Adolescent , Adult , Child , Female , Humans , Intracranial Hypertension/diagnosis , Magnetic Resonance Imaging , Male , Sella Turcica/pathology , Spine , Vision Disorders/etiology
6.
Pediatr Hematol Oncol ; 15(1): 45-54, 1998.
Article in English | MEDLINE | ID: mdl-9509505

ABSTRACT

Fanconi's anemia (FA) is a rare, genetically heterogeneous, autosomal recessive disorder characterized by bone marrow failure, congenital abnormalities, chromosome instability, and increased susceptibility to neoplasia. Congenital abnormalities vary in location and in severity and not all patients are affected. Although the primary defect of FA is unknown, hypersensitivity to the clastogenic effect of agents that introduce cross-links in the DNA, such as diepoxybutane (DEB), is a marker of the FA phenotype in patients suffering from aplastic anemia without the physical characteristics of the syndrome and, conversely, in cases with abnormalities in the preanemic phase. We report the case of two dizygotic twins suffering from FA with discordant hematologic data. The DEB test repeated several times in various laboratories yielded conflicting results, whereas cell cycle studies by flow cytometry revealed a pattern typical of FA patients. Moreover, the flow cytometric pattern was correlated with the clinical severity of the disease.


Subject(s)
Diseases in Twins , Epoxy Compounds , Fanconi Anemia/diagnosis , Twins, Dizygotic , Adrenal Cortex Hormones/therapeutic use , Androgens/therapeutic use , Blood Transfusion , Cell Cycle , Child , Chromosome Aberrations , Cross-Linking Reagents , Erythropoietin/therapeutic use , Fanconi Anemia/genetics , Fanconi Anemia/therapy , Flow Cytometry/methods , Humans , Lymphocytes/immunology , Lymphocytes/pathology , Male , Prednisone/therapeutic use
8.
Pediatr Nephrol ; 9(6): 749-50, 1995 Dec.
Article in English | MEDLINE | ID: mdl-8747119

ABSTRACT

A 4.5-year-old boy was admitted to three different hospitals because of a tendency towards dehydration and polyuria, along with normal blood pressure, hypochloraemia, hypokalaemia, metabolic alkalosis and an impaired urinary concentrating ability. A renal biopsy failed to reveal juxtaglomerular hyperplasia. The clinical and laboratory findings failed to improve despite supplementation with potassium chloride and treatment with indomethacin. The urine was found to contain frusemide. The parents denied any drug administration to the boy. The child is now doing well more than 1 year after separation from his mother. Since ingestion of diuretic cannot be differentiated from true Bartter syndrome by blood and urinary electrolyte measurements alone, a diuretic screen is warranted in children with findings consistent with Bartter syndrome.


Subject(s)
Bartter Syndrome/diagnosis , Diuretics/poisoning , Furosemide/poisoning , Munchausen Syndrome by Proxy/diagnosis , Child, Preschool , Diagnosis, Differential , Diuretics/urine , Furosemide/urine , Humans , Male
9.
Pediatr Hematol Oncol ; 12(5): 489-93, 1995.
Article in English | MEDLINE | ID: mdl-8519635

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.


Subject(s)
Antiviral Agents/therapeutic use , Common Variable Immunodeficiency/therapy , Herpesviridae Infections/therapy , Herpesvirus 4, Human , Interferon-alpha/therapeutic use , Tumor Virus Infections/therapy , Adolescent , Chronic Disease , Humans , Male
10.
Pediatr Hematol Oncol ; 12(2): 189-94, 1995.
Article in English | MEDLINE | ID: mdl-7626389

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.


Subject(s)
Interferon-alpha/therapeutic use , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/therapy , 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
11.
Pediatr Hematol Oncol ; 11(2): 189-95, 1994.
Article in English | MEDLINE | ID: mdl-8204444

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.


Subject(s)
Erythropoiesis , Red-Cell Aplasia, Pure/congenital , Thumb/abnormalities , Child, Preschool , Female , Humans , Infant , Male , Red-Cell Aplasia, Pure/blood , Syndrome
12.
Acta Paediatr ; 81(11): 887-90, 1992 Nov.
Article in English | MEDLINE | ID: mdl-1467611

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.


Subject(s)
Measles Vaccine/adverse effects , Mumps Vaccine/adverse effects , Neutrophils/drug effects , Rubella Vaccine/adverse effects , Cell Adhesion/drug effects , Chemotaxis, Leukocyte/drug effects , Child , Child, Preschool , Drug Combinations , Evaluation Studies as Topic , Female , Fever/chemically induced , Fever/epidemiology , Humans , Italy/epidemiology , Male , Measles-Mumps-Rubella Vaccine , Neutrophils/metabolism , Neutrophils/physiology , Respiratory Burst/drug effects
13.
J Pediatr Gastroenterol Nutr ; 14(1): 104-6, 1992 Jan.
Article in English | MEDLINE | ID: mdl-1374123

ABSTRACT

In macroamylasemia, a macromolecular complex consisting of amylase linked to immunoglobulins circulates in the plasma and usually causes benign hyperamylasemia with low or normal amylasuria. Macroamylasemia is extremely rare in pediatric patients as it has been described in only four patients. We report herein the case of a 5-year-old girl with abdominal pain and macroamylasemia. To recognize macroamylase, we used agar gel electrophoresis, PEG precipitation, and fast protein liquid chromatography (FPLC). In our case, FPLC was found to be the most reliable method for the identification of the macromolecular complex. Macroamylasemia is merely a biochemical abnormality that is not associated with any kind of pathology. Its identification is therefore essential in order to avoid a wrong diagnosis, i.e., pancreatitis, with consequent inappropriate therapies.


Subject(s)
Amylases/blood , Metabolic Diseases/blood , Child, Preschool , Female , Humans , Macromolecular Substances , Metabolic Diseases/diagnosis
15.
Acta Paediatr Scand ; 78(6): 907-10, 1989 Nov.
Article in English | MEDLINE | ID: mdl-2603718

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.


Subject(s)
Neutrophils/immunology , Virus Diseases/immunology , Child , Child, Preschool , Enteritis/immunology , Female , Hepatitis, Viral, Human/immunology , Humans , Infant , Infectious Mononucleosis/immunology , Leukocyte Adherence Inhibition Test , Male , Pneumonia, Viral/immunology
18.
Pediatr Med Chir ; 8(5): 721-3, 1986.
Article in Italian | MEDLINE | ID: mdl-3601702

ABSTRACT

The authors report a case of rhabdomyosarcoma of posterior urethra they observed in a 10 year-old boy who was referred for an acute urinary retention. The story of the patient included other urinary tract troubles: macroscopic haematuria and stranguria had been observed when the boy was four year old and at that time cystography and cystoscopy grave normal results. In the following years the patient presented repeatedly episodes of haematuria, stranguria, dysuria and urinary tract infections. The authors stress the slow evolution of the tumor and the difficulties for diagnosing the disease in its early phase.


Subject(s)
Rhabdomyosarcoma/diagnosis , Urethral Neoplasms/diagnosis , Child , Hematuria/etiology , Humans , Male , Rhabdomyosarcoma/pathology , Rhabdomyosarcoma/surgery , Urethra/pathology , Urethral Neoplasms/pathology , Urethral Neoplasms/surgery , Urethral Obstruction/etiology , Urinary Tract Infections/etiology , Urination Disorders/etiology
SELECTION OF CITATIONS
SEARCH DETAIL
...