ABSTRACT
AIM: To study the Health Related Quality of Life (HRQoL) and metabolic assessment in 33 children affected with type 1 diabetes (18 males, 15 females; mean age 10.3 years). METHODS AND RESULTS: We used the Child Health Questionnaire-Parental Form 50 items (CHQ-PF50), measurements of metabolic control and we related them to patient management and family status. Quality of life (QoL) in diabetic children was worse than in the healthy sample. Interestingly, mean and last glycosylated hemoglobin (mean HbAlc r: -.4410 p < .01 and last HbAlc r: -.4012 p < .01), age of patients (r: -.4428; p < .009) and number of glycaemia controls (r: -.37, p < .03) were the most important parameters related to HRQoL parameters. CONCLUSION: This multidimensional study stressed that HRQoL is influenced by the metabolic assessment. Moreover, the report examined the parental perception of QoL in children with chronic diseases. Higher number of glycaemia controls/day, better metabolic control, lower age of children and earlier onset of diabetes produced better physical and psychological aspects of QoL. In comparison with adolescent patients, in children with diabetes, factors as number of insulin injections and daily snacks, and the level of education of the mother were not so important to influence QoL. Unexpectedly, in this sample, life habits, family features, and anthropometric parameters did not correlate with specific domains of QoL.
Subject(s)
Cost of Illness , Diabetes Mellitus, Type 1/psychology , Quality of Life , Adolescent , Blood Glucose/metabolism , Blood Glucose Self-Monitoring , Case-Control Studies , Child , Diabetes Mellitus, Type 1/blood , Diabetes Mellitus, Type 1/diagnosis , Diabetes Mellitus, Type 1/drug therapy , Female , Glycated Hemoglobin/metabolism , Humans , Hypoglycemic Agents/therapeutic use , Insulin/therapeutic use , Italy , Male , Prospective Studies , Severity of Illness Index , Social Behavior , Socioeconomic Factors , Surveys and QuestionnairesABSTRACT
Objetivos: conocer el estado nutricional de los pacientes que ingresan al hospital a través de un tamizaje nutricional. Determinar el día de inicio de la alimentación. Relacionar días medios de internación según estado nutricional y patología de base. Material y método: se estudiaron en forma prospectiva todos los pacientes ingresados en la salas de clínica médica (n:453) durante un período de tres meses. A través de una planilla se registraron los siguientes datos: fecha de ingreso y egreso; edad; sexo; diagnóstico de ingreso; peso; talla; día de inicio de la alimentación. Para evaluar el estado nutricional se tomó como patrón de referencia las tablas de NCHs/OMS y la clasificación del mismo se realizó en base a los criterios de Waterlow. Resultados: evaluaron 453 pacientes. El tamizaje nutricional mostró que el 47 por ciento de los pacientes al ingresar al hospital eran eutróficos y el 53 por ciento restante presentó algún grado de malnutrición: desnutrición aguda I° (15 por ciento), desnutrición aguda II° (8 por ciento), desnutrición aguda III° (3 por ciento); desnutrición crónica I° (9,5 por ciento)...
Subject(s)
Humans , Child, Preschool , Adolescent , Child , Infant, Newborn , Infant , Child, Hospitalized , Nutrition Assessment , Nutritional StatusABSTRACT
Objetivos: conocer el estado nutricional de los pacientes que ingresan al hospital a través de un tamizaje nutricional. Determinar el día de inicio de la alimentación. Relacionar días medios de internación según estado nutricional y patología de base. Material y método: se estudiaron en forma prospectiva todos los pacientes ingresados en la salas de clínica médica (n:453) durante un período de tres meses. A través de una planilla se registraron los siguientes datos: fecha de ingreso y egreso; edad; sexo; diagnóstico de ingreso; peso; talla; día de inicio de la alimentación. Para evaluar el estado nutricional se tomó como patrón de referencia las tablas de NCHs/OMS y la clasificación del mismo se realizó en base a los criterios de Waterlow. Resultados: evaluaron 453 pacientes. El tamizaje nutricional mostró que el 47 por ciento de los pacientes al ingresar al hospital eran eutróficos y el 53 por ciento restante presentó algún grado de malnutrición: desnutrición aguda Iº (15 por ciento), desnutrición aguda IIº (8 por ciento), desnutrición aguda IIIº (3 por ciento); desnutrición crónica Iº (9,5 por ciento)...(AU)
Subject(s)
Humans , Child, Preschool , Adolescent , Child , Infant, Newborn , Infant , Nutritional Status , Child, Hospitalized , Nutrition AssessmentABSTRACT
AIM: To assess the health-related quality of life (HRQoL) in young diabetic patients. MATERIAL AND METHODS: We studied 30 consecutive (16 male, 14 female; mean age 15.8 years) out-patients affected by Type 1 diabetes mellitus (T1DM). We used validated clinical, metabolic (HbA1c) and patient-oriented (Short Form-36) measurements. RESULTS: Patient-oriented physical scores were significantly related to several clinical and habit features (daily glycaemia and number of insulin administration, dosage of HbA1c, number of snacks). Interestingly, the number of snacks is associated with better social functioning; furthermore, the mother's educational level is related with physical and mental aspects of the patient's quality of life. DISCUSSION: The patient-oriented measure provides an important perspective of the severity of the disease and suggests new interpretations to conventional biological measurements. This multidimensional study shows that HRQoL is influenced by the metabolic picture. During adolescence a "constant attendance" of the disease, through strict self-control and the high number of therapy administrations, can deteriorate the patient's quality of life. Interestingly, this study indicates the mother's crucial role in the management of the disease during adolescence: the higher the mother's educational level the better the patient's HRQoL probably because she is able to help the child to manage and accept the disease.
Subject(s)
Diabetes Mellitus, Type 1/psychology , Health Status , Quality of Life , Adolescent , Blood Glucose/analysis , Diabetes Mellitus, Type 1/blood , Diabetes Mellitus, Type 1/drug therapy , Educational Status , Environment , Female , Food , Glycated Hemoglobin/analysis , Humans , Insulin/administration & dosage , Life Style , Male , MothersABSTRACT
The prevalence of rheumatologic symptoms in patients with mixed cryoglobulinaemia associated to chronic hepatitis C virus (HCV) infection was investigated. One hundred fourteen patients (96 female, mean age 63.5 years) with chronic HCV infection and cryoglobulinaemia were recruited. The presence, concentration, and type of cryoglobulins were tested by immunofixation. Rheumatoid factor (RF) and antinuclear antibody (ANA) were also measured. Rheumatological related symptoms were investigated by anamnesis and clinical evaluation. HCV genotype was determined by polymerase chain reaction (PCR) with genotype specific primer. Type II cryoglobulinaemia was identified in 39 cases and it was of type III in 58. HCV-RNA genotype was determined in 62 patients: 47 (76%) were infected by genotype1b, 8 (13%) by genotype 2a, while other genotypes were less common. RF and ANA were, respectively, present in 36 (31.5 %) and 4 (3.5 %) patients at low titre (RF < 50 UI/ml, ANA < 1:80). Of the 114 patients, 51 (44.7%) complained for rheumatological symptoms. The mean cryocrit value in these patients was 2,6 %, while in patients with HCV infection, liver disease, and cryoglobulinaemia without rheumatological symptoms the cryocrit value was lower than 0.5% in 50% of cases. It is concluded that patients with chronic HCV infection reported a wide variety of rheumatological manifestations, impairing their quality of life, with discrete frequency. These results suggest that HCV infection should be considered in the differential diagnosis of rheumatological symptoms of unknown origin.
Subject(s)
Cryoglobulinemia/complications , Hepacivirus/isolation & purification , Hepatitis C, Chronic/complications , Rheumatic Diseases/diagnosis , Rheumatic Diseases/epidemiology , Antibodies, Antinuclear/blood , Cryoglobulinemia/virology , Female , Hepacivirus/classification , Hepacivirus/genetics , Hepatitis C, Chronic/virology , Humans , Male , Middle Aged , RNA, Viral/blood , Rheumatoid Factor/bloodABSTRACT
AIMS/HYPOTHESIS: Maturity-onset-diabetes of the young (MODY) is caused by mutations in at least five different genes. Our aim was to determine the prevalence of the most common MODY genes in Italian families with early-onset Type II (non-insulin-dependent) diabetes mellitus. METHODS: We screened 28 Italian early-onset Type II diabetic families (diagnosis < 35 years) for mutations in the hepatic nuclear factor-4 alpha, (MODY1), glucokinase (MODY2) and hepatic nuclear factor-1 alpha (MODY3). Both strands of exons, flanking introns and minimal promoter regions of the above-mentioned genes were amplified using polymerase chain reaction and were sequenced directly. RESULTS: We identified four different mutations, three of which are not described, (W113X, G42P43fsCC --> A, H514R) and four new polymorphisms (G184G, T513T, IVS3-nt47delG, IVS1- nt53C --> G) in the hepatic nuclear factor-1 alpha gene, two new potential mutations (G44S, IVS4nt + 7C --> T) and three new polymorphisms (promoter-nt84C --> G, IVS9 + nt8C --> T, IVS9 + nt49G --> A) in the glucokinase gene, and a new polymorphism (IVS1c-nt11T --> G) in the hepatic nuclear factor-4 alpha gene. CONCLUSION/INTERPRETATION: Mutations in the hepatic nuclear factor-1 alpha and glucokinase are associated with Type II diabetes in 14 % and 7 % of Italian families, respectively. Our findings provide an impetus for screening Italian MODY and early-non Type II diabetic families for mutations in the above mentioned genes to identify relatives at risk who could benefit from primary prevention care. [
Subject(s)
DNA-Binding Proteins , Diabetes Mellitus, Type 2/genetics , Glucokinase/genetics , Mutation , Nuclear Proteins , Transcription Factors/genetics , Blood Glucose/analysis , DNA Mutational Analysis , Female , Hepatocyte Nuclear Factor 1 , Hepatocyte Nuclear Factor 1-alpha , Hepatocyte Nuclear Factor 1-beta , Humans , Insulin/blood , Italy , Male , Pedigree , Polymerase Chain Reaction , Sequence Analysis, DNAABSTRACT
BACKGROUND: Bovine beta-casein is a cow's milk protein that targets both humoral and cellular immune responses in patients with Type 1 diabetes and, to a lesser degree, also in normal subjects. In this study we aimed to determine whether the avoidance of cow's milk consumption early in life could prevent the development of antibody response to bovine beta-casein despite the mother being exposed on a daily basis to cow's milk consumption. MATERIALS AND METHODS: We measured the antibody response to bovine beta-casein using an ELISA method in 28 healthy infants under 4 months of age, of whom 16 were exclusively breast-fed and 12 were bottle-fed with cow's milk. In addition, beta-casein antibodies were measured in 37 prepubertal children with Type 1 diabetes and in 31 healthy children who were exposed to cow's milk or dairy products to see whether differences in antibody titers exist in this young age group. Antibodies binding to beta-casein were also evaluated by immunoblotting analysis. RESULTS: Elevated levels of beta-casein antibodies were found in bottle-fed infants compared to breast-fed infants (p<0.0001). Antibody levels to bovine beta-casein were also significantly higher in children with Type 1 diabetes compared to age-matched controls (p=0.03). By western blot analysis we confirmed specific binding to bovine beta-casein in bottle-fed infants, in children with Type 1 diabetes and in controls exposed to cow's milk, but not in infants who were exclusively breast-fed. CONCLUSIONS: The results of this study indicate that breastfeeding within the first 4 months of life prevents the generation of antibody response to bovine beta-casein despite the mothers' consumption of cow's milk during the breastfeeding period. These findings may have relevance for disease prevention.
Subject(s)
Antibodies/blood , Bottle Feeding , Breast Feeding , Caseins/immunology , Diabetes Mellitus, Type 1/immunology , Milk/immunology , Animals , Cattle , Child , Dairy Products , Enzyme-Linked Immunosorbent Assay , Humans , InfantABSTRACT
We report 10 cases of lichen planus (LP) and chronic liver disease linked to HCV. The mean age was 63.4 +/- 5.1 years (range 51-73), five were female; six patients had an established cirrhosis of the liver, as shown by either a liver biopsy or the ultrasonographic and biohumoral evidence. The remaining four patients had chronic hepatitis. Histological examination confirmed the presence of LP: the localization of the dermatosis was restricted to the skin in four patients, to the mucous membranes in five (4 atrophic erosive and one erosive) while the remaining had mucous-cutaneous localization. A type II cryoglobulinemia was demonstrated in two and a type III in one of the patients, while no one had otherwise circulating autoantibodies (anti-nuclear, anti-smooth muscle, anti-liver kidney microsomal type 1 and anti-mitochondrial antigens) such as other etiological factors of liver disease. In six of the patients the history was positive for previous Mycobacterium tuberculosis infection. In clinical practice the patients with chronic liver disease and HCV infection can also suffer from severe extrahepatic manifestations, including lichen planus.
Subject(s)
Hepatitis C/complications , Lichen Planus/etiology , Tuberculosis/complications , Aged , Female , Humans , Lichen Planus, Oral/etiology , Lichen Planus, Oral/pathology , Male , Middle AgedABSTRACT
Human herpesvirus 8 (HHV-8) is involved in the pathogenesis of Kaposi's sarcoma, of B-cells lymphomas, and of Castelman's disease. However, the role of this virus is not yet well known. To investigate the relationship between HHV-8 infection and diseases correlated with human immunodeficiency virus (HIV), we studied a cohort of 67 HIV-seropositive subjects, some of them coinfected with HHV-8. An indirect immunofluorescence test was employed to detect the antibodies against this virus. Positive cases were 31 (46.3%); among the 67 patients, 14 were weakly positive, or + (20.9%); 11 were significantly positive, or ++ (16.4%); and 6 were strongly positive, or (8.9%). These last six patients were the most affected by opportunistic infections, and all were affected by neoplastic pathologies. Moreover, the HHV-8 positive subjects showed hematologic and martial alterations more severe than those in the negative subjects. HHV-8 seroprevalence in HIV-seropositive patients of our cohort was higher (46.3%) than in normal population (0-10%). The presence of disseminated Kaposi's sarcoma and other neoplasms associated with high HIV-RNA levels in HHV-8-positive patients, and particularly in those with strong positivity, corroborates the hypothesis that the virus is correlated with the progression of HIV infection and with its related diseases, especially those that are neoplastic. Last, the severe alterations of iron metabolism found in the patients coinfected with HHV-8 and the negative effect of this virus on the lymphocytic populations can contribute to the unfavorable evolution of HIV infection and also might facilitate tumor development.
Subject(s)
HIV Seropositivity , Herpesvirus 8, Human/metabolism , Adult , Case-Control Studies , Cohort Studies , Female , Flow Cytometry , Fluorescent Antibody Technique, Indirect , Humans , Iron/metabolism , Lymphocytes/metabolism , Male , Middle Aged , Neoplasms/etiology , Opportunistic Infections , RNA, Viral/metabolism , Sarcoma, Kaposi/metabolismABSTRACT
AIMS/HYPOTHESIS: Induction of tolerance to insulin is achievable in animal models of Type I (insulin-dependent) Diabetes mellitus by oral treatment with this hormone, which can lead to prevention of the disease. In the Diabetes Prevention Trial of Type I diabetes (DPT-1), oral insulin is given with the aim of preventing disease insurgence. We investigated whether if given at diagnosis of Type I diabetes in humans, oral insulin can still act as a tolerogen and therefore preserve residual beta-cell function, which is known to be substantial at diagnosis. METHODS: A double-blind trial was carried out in patients (mean age +/- SD: 14 +/- 8 years) with recent-onset Type I diabetes to whom oral insulin (5 mg daily) or placebo was given for 12 months in addition to intensive subcutaneous insulin therapy. A total of 82 patients with clinical Type I diabetes ( < 4 weeks duration) were studied. Basal C peptide and glycated haemoglobin were measured and the insulin requirement monitored every 3 months up to 1 year. Insulin antibodies were also measured in 27 patients treated with oral insulin and in 18 patients receiving placebo at the beginning of the trial and after 3, 6 and 12 months of treatment. RESULTS: The trial was completed by 80 patients. Overall and without distinction between age at diagnosis, at 3, 6, 9 and 12 months baseline mean C-peptide secretion in patients treated with oral insulin did not differ from that of those patients treated with placebo. In patients younger than 15 years a tendency for lower C-peptide values at 9 and 12 months was observed in the oral insulin group. Insulin requirement at 1 year was similar between the two groups as well as the percentage of glycated haemoglobin. Finally, IgG insulin antibodies were similar in the two groups at each time point. CONCLUSION/INTERPRETATION: The results of this study indicate that the addition of 5 mg of oral insulin does not modify the course of the disease in the first year after diagnosis and probably does not statistically affect the humoral immune response against insulin.
Subject(s)
Diabetes Mellitus, Type 1/drug therapy , Insulin/administration & dosage , Islets of Langerhans/metabolism , Administration, Oral , Adolescent , Adult , Age of Onset , Blood Glucose/metabolism , C-Peptide/blood , Child , Diabetes Mellitus, Type 1/blood , Double-Blind Method , Female , Glycated Hemoglobin/analysis , Humans , Injections, Subcutaneous , Insulin/therapeutic use , Islets of Langerhans/drug effects , Italy , MaleABSTRACT
BACKGROUND AND AIMS: Mixed cryoglobulinaemia (MC) is a frequent finding among patients infected with hepatitis C virus (HCV). The response to treatment with alpha-interferon (alpha-IFN) in these patients is linked to predictive factors. The aim of this study was to ascertain whether the presence of MC was a predictive factor of response in patients treated with alpha-IFN for chronic hepatitis due to HCV. METHODS: Thirty-two patients with MC and HCV infection (24 with chronic hepatitis and eight with cirrhosis) were compared with 30 patients with HCV infection without MC (23 chronic hepatitis, seven cirrhosis) of a similar mean age. All were treated with lymphoblastoid alpha-IFN, at 3 MU, t.i.w., for 6-12 months and then followed up. RESULTS: No statistical difference was observed between the two groups in terms of sustained response (P = 0.83), relapse (P = 0.88) and non-response (P = 0.92). The mean follow up was 24.3 months (range 17-28) for patients with sustained response and for the patients with MC and 22.6 months (range 15-26) for patients without MC. CONCLUSIONS: The presence of cryoglobulinaemia does not influence the response to alpha-IFN in patients with chronic HCV infection.
Subject(s)
Antiviral Agents/administration & dosage , Cryoglobulinemia/diagnosis , Hepatitis C, Chronic/diagnosis , Interferon-alpha/administration & dosage , Adult , Cryoglobulinemia/drug therapy , Female , Hepatitis C, Chronic/drug therapy , Humans , Injections, Subcutaneous , Liver Cirrhosis/diagnosis , Liver Cirrhosis/drug therapy , Male , Middle Aged , Prognosis , Recurrence , Treatment OutcomeABSTRACT
The target molecules of the T-cell response in type 1 diabetes, despite their pathogenic importance, remain largely uncharacterized, especially in humans. Interestingly, molecules such as insulin and glutamic acid decarboxylase (GAD) have been shown to be a target not only of autoantibodies, but also of autoreactive T-lymphocytes both in man and in the non-obese diabetic (NOD) mouse. In the present study we aimed to determine the existence of a specific T-cell response towards the insulinoma-associated protein 2 (IA-2) islet tyrosine phosphatase, a recently identified autoantigen which is the target of autoantibodies strongly associated with diabetes development. Human recombinant IA-2 produced in Escherichia coli, was tested for its reactivity with peripheral blood lymphocytes obtained from 16 newly diagnosed type 1 diabetic patients and from 25 normal controls, 15 of whom were HLA-DR-matched. A T-cell proliferation assay was performed in triplicate employing freshly isolated cells in the absence or in the presence of the antigen to be tested (at two different concentrations: 2 microg/ml and 10 microg/ml). A specific T-cell proliferation (defined as a stimulation index (S.I.) >/=3) was observed against IA-2 used at a concentration of 10 microg/ml (but not of 2 microg/ml) in 8/16 diabetic patients, in 1/15 HLA-DR-matched control subjects (P<0.01 by Fisher exact test) and in 0/10 of the remaining normal individuals. A statistically significant difference (P<0.003 by Mann-Whitney U test) was also observed in S.I. values between patients (3.1+/-1.4) and HLA-DR-matched controls (1.7+/-0.54) employing IA-2 at a concentration of 10 microg/ml. However, when IA-2 was used at a concentration of 2 microg/ml, the difference in S. I. between patients (1.65+/-0.8) and controls (1.0+/-0.3) did not reach statistical significance. In conclusion, these data show the presence of a specific, dose-dependent T-lymphocyte response against the IA-2 islet tyrosine phosphatase at the onset of type 1 diabetes. Consequently, this molecule appears to be a target not only at the B-lymphocyte but also at the T-lymphocyte level, reinforcing the potential pathogenic role of this autoantigen in the islet destructive process.
Subject(s)
Autoantigens/immunology , Autoimmunity/immunology , Diabetes Mellitus, Type 1/immunology , Membrane Proteins/immunology , Protein Tyrosine Phosphatases/immunology , T-Lymphocytes/immunology , Adolescent , Adult , Child , Child, Preschool , Electrophoresis, Agar Gel , Female , Glutamate Decarboxylase/immunology , HLA-DR Antigens/analysis , Histocompatibility Testing , Humans , Insulin/immunology , Male , Polymerase Chain Reaction , Protein Tyrosine Phosphatase, Non-Receptor Type 1 , Radioimmunoassay , Receptor-Like Protein Tyrosine Phosphatases, Class 8 , Recombinant Proteins , Scintillation CountingABSTRACT
BACKGROUND AND AIM: The hepatitis C infection (HCV) has numerous extrahepatic manifestations owing to the systemic nature of the infection itself. HCV infects the cells that carry a CD 81 receptor and show a marked tropism for hepatocytes, bone marrow staminal cells and circulating lymphomonocytes. One consequence of this tropism is the activation of B lymphocyte clones with the consequent production of autoantibodies and cryoglobulins. The secondary event is the formation of circulating immune complexes which, having precipitated at an intravascular level, may cause part of the extrahepatic manifestations associated with these infections. METHODS: This retrospective study evaluated the manifestations correlated and/or associated with HCV hepatitis and mixed cryoglobulinaemia. RESULTS: This analysis showed that 75% of consecutively studied patients reveal clinically important extrahepatic manifestations. CONCLUSIONS: This underlines the "broad spectrum" action played by the hepatitis C virus in the host organism.
Subject(s)
Cryoglobulinemia/etiology , Hepatitis C, Chronic/complications , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Retrospective StudiesABSTRACT
The age at diagnosis of insulin-dependent diabetes mellitus (type I DM) varies between childhood and adulthood. The aim of this study was to define the immunologic and metabolic characteristics of the disease according to the age at which it is diagnosed. We evaluated the residual beta-cell function (basal and stimulated C-peptide) and frequency of two major islet cell-related autoantibodies, glutamic acid decarboxylase (GAD) and tyrosine phosphatase-like molecule (IA-2ic), at the onset of type I DM. A population-based study was performed with 235 consecutive cases of recent-onset (<4 weeks) type I DM (ages 5 to 45 years) diagnosed in the Lazio region of central Italy. Five age groups were considered: patients diagnosed between ages 5 and 7 years (n = 10), 7 and 10 years (n = 38), 10 and 17 years (n = 94), 17 and 20 years (n = 17), and 20 and 45 years (n = 76). Patients diagnosed before puberty had significantly reduced C-peptide secretion compared with patients diagnosed at a later age (P < .02). Glycosylated hemoglobin (HbA1c) did not differ at diagnosis between the different age groups. Patients diagnosed at puberty or after required significantly less insulin compared with younger patients (P < .04). GAD antibodies were found in 65% and IA-2ic antibodies in 59% of patients. GAD antibodies tended to be more frequent in patients diagnosed after age 17 compared with younger patients (P = .05), while IA-2ic antibodies were not age-related. These data suggest that (1) the extent of beta-cell damage differs between patients diagnosed before and after puberty, the process being more destructive in children less than 7 years of age, when C-peptide levels are the lowest; and (2) residual beta-cell function at diagnosis is not influenced by the presence or absence of islet cell-related antibodies. These findings have implications for trials in type I DM diagnosis aimed at protecting beta cells from end-stage destruction and in attempts to prevent the disease in susceptible individuals.
Subject(s)
Diabetes Mellitus, Type 1/metabolism , Adult , Autoantibodies/blood , C-Peptide/analysis , Diabetes Mellitus, Type 1/immunology , Female , Glutamate Decarboxylase/immunology , Glycated Hemoglobin/analysis , Humans , Male , Middle Aged , Protein Tyrosine Phosphatase, Non-Receptor Type 1 , Protein Tyrosine Phosphatases/immunologyABSTRACT
BACKGROUND: The relative importance of genetic and environmental factors in causing insulin-dependent diabetes mellitus (IDDM) is unknown. We studied this question by assessing the incidence of the disease in children, born in a region with a low incidence of IDDM (Lazio), but whose parents came from a region with high incidence (Sardinia). METHODS: We identified all IDDM cases that occurred between 1989 and 1994. We used as the denominator the number of children aged 0-14 born in Lazio of Sardinian parents to calculate incidence. We compared this rate with the incidences of IDDM in the populations of Lazio and Sardinia. FINDINGS: The age-adjusted incidence of IDDM in Sardinian-heritage children born and living in Lazio was 33.8 per 100,000 per year (95% CI 7.0-99.0) for those with two Sardinian parents, and 15.9 (8.7-26.6) for those with only one parent from Sardinia. The former incidence was not different from that recorded in Sardinia (34.4, 31.3-37.9), but was fourtold that of Lazio-heritage children (7.9, 7.1-8.8). INTERPRETATION: Our results show that two different ethnic groups living in the same region have a fourfold difference in incidence of IDDM. Children of Sardinian-heritage born in Lazio have the same incidence as the population of origin, which is genetically prone to the disease. Moreover, children with one Sardinian parent had a rate half that of Sardinians and double that of the indigenous population. We conclude that in a given population genetic susceptibility determines the frequency of IDDM in response to the environmental challenge.
Subject(s)
Diabetes Mellitus, Type 1/ethnology , Diabetes Mellitus, Type 1/genetics , Adolescent , Child , Child, Preschool , Diabetes Mellitus, Type 1/etiology , Environment , Female , Humans , Incidence , Italy/epidemiology , Italy/ethnology , Male , ParentsABSTRACT
We describe a patient with primordial microcephalic dwarfism with severe intrauterine growth retardation and severe and progressive postnatal deficit in length, weight and head circumference. The patient was extroverted and sociable but mildly mentally retarded. He had marked delay of bone maturation and an enlargement of the sella turcica. This child and two previously reported patients [Boscherini et al., Eur J Pediatr 137:237-242, 1981] have many characteristics in common with Caroline Crachami, the famous "Sicilian dwarf". We think that these patients belong to a separate category of microcephalic primordial dwarfism.
Subject(s)
Abnormalities, Multiple , Dwarfism , Microcephaly , Abnormalities, Multiple/diagnostic imaging , Abnormalities, Multiple/embryology , Bone and Bones/abnormalities , Dwarfism/diagnostic imaging , Dwarfism/embryology , Humans , Infant , Intellectual Disability , Male , Microcephaly/diagnostic imaging , Microcephaly/embryology , Radiography , Sella Turcica/abnormalities , SyndromeSubject(s)
Bacterial Infections/drug therapy , Ceftriaxone/adverse effects , Cephalosporins/adverse effects , Cholelithiasis/chemically induced , Bronchopneumonia/drug therapy , Ceftriaxone/administration & dosage , Cephalosporins/administration & dosage , Child , Child, Preschool , Female , Humans , Male , Risk Factors , Urinary Tract Infections/drug therapyABSTRACT
We report on a young patient who suffered from diabetes mellitus and neurosensorial deafness from the age of two. One year later she was noted to have deteriorated vision and the diagnosis of optic atrophy was made, her visual acuity decreased progressively. At the age of six she was admitted to our hospital because of thiamine responsive megaloblastic anemia, a rare clinical feature of Wolfram's syndrome (only 13 cases have been reported to date). Thiamine (75 mg/day) was commenced at a single oral dose with a rapid increase of Hb level after a few days of therapy. The insulin requirement didn't decrease during thiamine therapy, the C-peptide level after glucagon remained almost indosable. No improvement was observed in the deafness and in the optic atrophy. These findings suggest that diabetes mellitus and optic atrophy, in Wolfram's syndrome are not related to thiamine metabolism.
Subject(s)
Wolfram Syndrome/diagnosis , Autoantibodies , Child, Preschool , Diabetes Mellitus, Type 1/complications , Diabetes Mellitus, Type 1/physiopathology , Female , Hearing Loss, Sensorineural/complications , Humans , Ophthalmic Nerve/physiopathology , Osmolar Concentration , Thiamine/administration & dosage , Thiamine/therapeutic use , Wolfram Syndrome/complications , Wolfram Syndrome/drug therapyABSTRACT
The duration of diabetes before puberty is not considered relevant to the future development of complications. To evaluate the effects of diabetes on the neural retina, we analysed macular function by steady-state focal electroretinography in 20 prepubescent diabetic children without vascular retinopathy and in 39 sex- and age-matched normal children. The mean (+/- SD) response related to retinal cellular elements between the photoreceptors and ganglion cells was significantly lower in diabetic children than in the control group (0.38 +/- 0.12 vs. 0.51 +/- 0.13 microV; unpaired t-test = 3; P = 0.005). Similarly, ganglion cell function showed a significant impairment in diabetic children with respect to the control group (0.4 +/- 0.13 vs. 0.53 +/- 0.09 microV; unpaired t-test = 5.4; P = 0.0001), whereas the photoreceptors appeared unaffected. Metabolic control and disease duration were not correlated with functional deficits. Our results suggest that before puberty, early diabetes may have a selective effect on the neural retina prior to the appearance of microvascular changes. A focal electroretinogram could identify diabetic children with neurosensory disorders who may have a higher risk of developing microvascular retinopathy.
Subject(s)
Diabetes Mellitus, Type 1/physiopathology , Diabetic Retinopathy/diagnosis , Photoreceptor Cells/physiopathology , Retinal Ganglion Cells/physiology , Age of Onset , Child , Child, Preschool , Diabetic Retinopathy/physiopathology , Electroretinography , Female , Humans , Infant , Male , Photoreceptor Cells/physiology , Puberty , Reference ValuesABSTRACT
Fibronectin (FN) is present in soluble and matrix forms in various body fluids and tissues, and has been shown to bind to several pathogens, including viruses. The interaction of FN with viral proteins of human immunodeficiency virus (HIV-1) was investigated by immunofluorescence technique using a cell line chronically infected with HIV-1 (H9-V). The results of this study showed that FN binds to HIV-1 infected cells, especially at FN concentration of 5 micrograms/ml. In addition, FN-pentapeptide has shown the ability to bind to HIV-1 infected cells. On the other hand, preincubation with antibodies against FN abolished the binding of FN to HIV-1 infected cells. Finally, FN has shown to bind to HIV-1 glycoproteins, including gp41 and gp120. In contrast, no binding to HIV-1 core proteins, including p15 and p24, was noted. We suggest that FN, in binding HIV-1 particles, may reduce viremia and thus may be involved in the clearance of viral proteins from the cells.