1,720,986 research outputs found
Prenatal sexing and sex determination in infants with ambiguous genitalia by polymerase chain reaction.
No full textDiagnosis and differential diagnosis of obesity in childhood
No full textAbout 2-3% of "essential" obesity in pediatric age is of endocrine or genetic origin (secondary obesity). The clinical picture of these forms is almost always characteristic; however, some patients affected by secondary obesity can present with an incomplete or atypical aspect. The aim of this review is to offer the pediatrician useful indications to correctly diagnose children presenting with obesity. It is advisable to make a careful anamnesis and an accurate medical examination in order to ascertain the causes that may have contributed to the onset and increase of weight gain. Obesity associated with mental retardation, short stature, cryptorchidism or hypogonadism, dysmorphism with facies sui generis, ocular or uditive defects, might suggest a genetic origin. Prader-Willi syndrome is the most frequent of these disorders and it is due to an alteration of chromosome 15 of paternal origin. These patients have to undergo the methilation test (easy and low cost genetic research) in order to confirm the clinical suspicion. Endocrine alterations, that play a pathogenic role in pediatric obesity (i.e., hypothyroidism, hypothalamic-pituitary diseases, pseudohypoparathyroidism), are rare. Early treatment of hormonal dysfunction generally allows to ameliorate or normalize the weight gain. In absence of specific clinical manifestations or lacking a significant clinical history, no endocrine test is required. The family pediatrician should require some routine hematochimic tests, in order to evaluate the possible presence of hyperlipidemia and/or glycometabolic complications. An oral glucose tolerance test is necessary only for patients presenting with serious weight gain, acanthosis nigricans, and for those with a family history of diabetes. In the most serious cases, a careful cardiovascular and respiratory evaluation should be performed. Children with a suspicion of secondary obesity have to be submitted to an endocrinologist, for a correct diagnosis and a specific treatment. However, the family pediatrician's assistance is essential during the follow-up period, in order to assure the patient and his/her family a proper assistance
Development of type 1 diabetes mellitus during interferon alfa therapy for chronic HCV hepatitis.
No full textOrgan-specific autoimmunity and genetic predisposition in interferon-treated HCV-related chronic hepatitis patients
No full textAbstract: Aims. Interferon alpha has been reported to enhance autoantibody production and to increase the risk of autoimmunity particularly against thyroid tissue. We designed a study with the following aims: 1) to assess the incidence of organ- and non-organ-specific autoantibodies during Interferon treatment; 2) to evaluate whether these autoantibodies have any clinical relevance; 3) to establish whether the development of autoimmune disorders can be related to a genetic predisposition.
Methods. A panel of 5 non-organ-specific and 6 organ-specific autoantibodies was evaluated in serum samples collected before treatment and then at 3 and 12 months in 47 patients enrolled in a treatment protocol with a 2b-recombinant Interferon (3 MU, 3 times a week for 12 months). III the second part of the study we explored genetic predisposition for autoimmune disorders in 31 patients by DNA-HLA class II typing rising Restriction Fragment Length Polymorphism (RFPL).
Results. Non-organ-specific autoantibodies were absent in all patients before and after Interferon. During follow-up 6 patients showed an increment in thyroid microsomal antibody titres; 3 of these also developed thyroglobulin autoantibodies; 3 of the 6 patients developed persistent hypothyroidism; a fourth had a transient subclinical hypothyroidism and a fifth had a transient subclinical hyperthyroidism. Two patients with initial positivity for ICA and PCA maintained their reactivity during treatment without impairment of the respective target organs. Eight out of 39 initially negative patients developed one or more organ-specific autoantibodies during follow-up. One of these developed a persistent hypothyroidism, and another developed insulin-dependent diabetes. HLA-typing did not reveal any particular allele frequency in patients with thyroid antibody positivity as compared with those without autoantibodies and controls. Moreover four of the 6 patients positive for islet-cell antibodies were carrying the non-Asp 57 allele which is considered a marker of a genetic predisposition for insulin-dependent diabetes.
Conclusions: These findings suggest that besides the thyroid gland, pancreatic beta-cells could be a target of autoimmunity, during Interferon-treatment for chronic HCV hepatitis. A genetic predisposition may be important, though insufficient alone, in the development of Interferon-induced autoimmune phenomena
Insulin-dependent diabetes mellitus during alpha-interferon therapy for chronic viral hepatitis
No full textHVI and HVII mitochondrial DNA polymorphism in Turner sindrome: analysis of 28 mother-child pairs.
No full text
Impact of Metabolic Control on Bone Quality in Phenylketonuria and Mild Hyperphenylalaninemia
No full textObjectives: A reduction of bone mineral density of unknown etiology has been reported in phenylketonuria (PKU) by radiological techniques, whereas no data on bone density in mild hyperphenylalaninemia (HPA) are available. We aimed to assess bone condition in PKU and HPA by quantitative ultrasound (QUS), taking into account patients' clinical and biochemical features. Patients and Methods: Phalangeal QUS has been used for bone assessment in 78 patients affected by PKU (n = 42) or mild HPA (n = 36). For each patient, blood phenylalanine concentrations in the 2 years before the study have been recorded and related to bone assessment. Results: Overall normal bone quality has been observed in the whole study group (AD-SoS standard deviation score [SDS] 0.25 +/- 1.29; BTT SDS -0.13 +/- 1.08). PKU adolescents (age older than 15 years, AD-SoS SDS -0.54 +/- 1.33; BTT SDS -0.85 +/- 1.21) and patients with poor compliance with treatment (blood phenylalanine > 10mg/dL, AD-SoSSDS -0.47 +/- 1.39; BTT SDS -0.97 +/- 1.14) showed lower BTT SDS with respect to normal population (P = 0.003 and P < 0.001, respectively). Patients with PKU with good compliance with treatment (blood phenylalanine < 10mg/dL, AD-SoS SDS 0.65 +/- 1.33; BTTSDS 0.15 +/- 0.94) and patientswith mildHPA(AD-SoS SDS 0.44 +/- 1.06 and BTT SDS 0.19 +/- 0.85) showed normal bone mineral density and cortical thickness. Conclusions: Good compliance with treatment in PKU during adolescence and adulthood is desirable because diet discontinuation is associated with bone loss. Mild HPA seems not to be complicated by bone damage. RI Porta, Francesco/G-9764-201
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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