78 research outputs found

    Diagnostic pitfalls in the assessment of congenital hypopituitarism.

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    BACKGROUND: The diagnosis of congenital hypopituitarism is difficult and oftendelayed because its symptoms are nonspecific.AIM: To describe the different clinical presentations of children with congenitalhypopituitarism to reduce the time for diagnosis and to begin a precocious andappropriate treatment.STUDY DESIGN: We analyzed a cohort of five children with congenitalhypopituitarism, describing their clinical, biochemical and radiologicalcharacteristics from the birth to diagnosis.RESULTS: As first sign of the disease, all of five patients presented a neonatal hypoglycemia, associated in four cases with jaundice. In all these four cases,the clinicians hypothesized a metabolic disease delaying the diagnosis, which wasperformed in only two cases within the neonatal period. In the other three cases,the diagnosis was formulated at 2, 5 and 8 years of life because there was severeand precocious growth impairment.CONCLUSIONS: It is important to suspect congenital hypopituitarism in thepresence of persistent neonatal hypoglycemia associated with jaundice and of aprecocious and severe reduction of the growth velocity in childhood. In all thesecases, it is necessary to undertake a hypothalamic-pituitary magnetic resonanceimaging scan as soon as possible, and to start appropriate treatment

    A 30-year quantitative comparison of the bird community of a semideciduous forest remnant in the state of São Paulo

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    Few studies have evaluated long-term changes in avian abundance in forest remnants. To compare both species richness and abundance of the bird community in a forest fragment located in the municipality of Gália, state of São Paulo, southeastern Brazil, we surveyed forest birds using transect counts. We compared our results with a survey conducted 30 years earlier at the same locality and further classified bird species according to their food habits to eventually predict fluctuations of specific abundance. Although species with population declines predominated in the community, all trophic categories had species which increased their abundances. Most species prone to move around remnants decreased in abundance. We suggest that, regarding specific abundances, trophic categories may be equally affected as a result of fragmentation processes and that the forest regeneration of this remnant may have led to the loss of edge species. Species that suffered from abundance loss during this time period may become locally extinct in the near future

    Children and adolescents treated with neridronate for osteogenesis imperfecta show no evidence of any osteonecrosis of the jaw

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    Over recent years, several reports have been published on unusual cases of osteonecrosis of the jaw (ONJ) in adults using second- and third-generation nitrogen-containing bisphosphonates such as pamidronate, alendronate, risedronate and zoledronate, but no case has ever been reported either in children or in adult patients taking neridronate. Children and adolescents affected by osteogenesis imperfecta (OI) could belong to a high-risk group for ONJ because bone fragility in OI is associated with a connective tissue malfunction. The purpose of this study is to evaluate the incidence of ONJ in a pediatric population treated with neridronate for OI. A total of 102 pediatric patients with OI who received neridronate infusions for a mean of 6.81 years (SD \ub1 3.06 years) were clinically assessed for possible ONJ. Eligibility criteria for participation included patients between 1.2 and 24 years old who received cyclical neridronate infusions for at least 1 year. All the patients were reviewed to determine duration, dosage and cumulative dose of their bisphosphonate therapy and were examined clinically to assess their oral health status. We have not demonstrated any occurrence of ONJ in our patients. In conclusion, at the moment insufficient data are available to prove a greater risk of ONJ in children with OI than in children affected by other forms of bone fragility. However, cases may emerge in future because the risk of ONJ seems to be related to the cumulative dose and the duration of therap

    Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency

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    Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by isolated glucocorticoid deficiency with preserved mineralocorticoid secretion. Mutations in the ACTH receptor (MC2R) account for approximately 25% of all FGD cases, but since these are usually missense mutations, a degree of receptor function is frequently retained. A recent report, however, suggested that disturbances in the renin-aldosterone axis were seen in some patients with potentially more severe MC2R mutations. Furthermore, MC2R knock out mice have overt aldosterone deficiency and hyperkalaemia despite preservation of a normal zona glomerulosa. We wished to determine whether a group of patients with severe nonsense mutations of the MC2R exhibited evidence of mineralocorticoid deficiency, thereby challenging the conventional diagnostic feature of FGD which might result in diagnostic misclassification

    Current and emerging treatments for the management of osteogenesis imperfecta

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    Osteogenesis imperfecta (OI) is the most common bone genetic disorder and it ischaracterized by bone brittleness and various degrees of growth disorder. Clinical severityvaries widely; nowadays eight types are distinguished and two new forms have been recentlydescribed although not yet classified. The approach to such a variable and heterogeneousdisease should be global and therefore multidisciplinary. For simplicity, the objectives oftreatment can be reduced to three typical situations: the lethal perinatal form (type II), inwhich the problem is survival at birth; the severe and moderate forms (types III–IX), in whichthe objective is ‘autonomy’; and the mild form (type I), in which the aim is to reach ‘normallife’. Three types of treatment are available: non-surgical management (physical therapy,rehabilitation, bracing and splinting), surgical management (intramedullary rod positioning,spinal and basilar impression surgery) and medical-pharmacological management (drugs toincrease the strength of bone and decrease the number of fractures as bisphosphonates or growthhormone, depending on the type of OI). Suggestions and guidelines for a therapeutic approachare indicated and updated with the most recent findings in OI diagnosis and treatment

    Possible andrologic markers in elevated neonatal 17-hydroxyprogesterone

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    Although T, FSH, and LH levels were not significantly different in patients and control subjects, inhibin B was higher in patients than in control subjects

    Growth hormone and early treatment.

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    Growth hormone (GH) treatment is approved by the US Food and Drug Administration (FDA) not only for GH deficiency (GHD) but also for other childhood growth disorders with growth failure and/or short stature. GHD is the most frequent endocrine disorder presenting with short stature in childhood. During neonatal period, metabolic effects due to congenital GHD require a prompt replacement therapy to avoid possible life-threatening complications. In childhood and adolescence, growth impairment is the most evident effect of GHD and early treatment has the aim of restore normal growth and to reach normal adult height. We reassume in this review the conditions causing GHD and the diagnostic challenge to reach an early diagnosis, and an early treatment, necessary to obtain the best results. Finally, we summarize results obtained in clinical studies about paediatric patients with GHD treated at an early age, in which a marked early catch-up growth and a normalization of adult height were obtaine

    Newborn screenings,Gli screening neonatali

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