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1.
Osteoporos Int ; 32(10): 1937-1949, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34009447

RESUMO

X-linked hypophosphataemia (XLH) is a lifelong condition. Despite the mounting clinical evidence highlighting the long-term multi-organ sequelae of chronic phosphate wasting and consequent hypophosphatemia over the lifetime and the morbidities associated with adult age, XLH is still perceived as a paediatric disease. INTRODUCTION: Children who have XLH need to transition from paediatric to adult healthcare as young adults. While there is general agreement that all affected children should be treated (if the administration and tolerability of therapy can be adequately monitored), there is a lack of consensus regarding therapy in adults. METHODS: To provide guidance in both diagnosis and treatment of adult XLH patients and promote better provision of care for this potentially underserved group of patients, we review the available clinical evidence and discuss the current challenges underlying the transition from childhood to adulthood care to develop appropriate management and follow-up patterns in adult XLH patients. RESULTS AND CONCLUSIONS: Such a multi-systemic lifelong disease would demand that the multidisciplinary approach, successfully experienced in children, could be transitioned to adulthood care with an integration of specialized sub-disciplines to efficiently control musculoskeletal symptoms while optimizing patients' QoL. Overall, it would be desirable that transition to adulthood care could be a responsibility shared by the paediatric and adult XLH teams. Pharmacological management should require an adequate balance between the benefits derived from the treatment itself with complicated and long-term monitoring and the potential risks, as they may differ across age strata.


Assuntos
Raquitismo Hipofosfatêmico Familiar , Hipofosfatemia , Adolescente , Adulto , Criança , Efeitos Psicossociais da Doença , Raquitismo Hipofosfatêmico Familiar/complicações , Raquitismo Hipofosfatêmico Familiar/terapia , Humanos , Hipofosfatemia/epidemiologia , Hipofosfatemia/etiologia , Hipofosfatemia/terapia , Fosfatos , Qualidade de Vida , Adulto Jovem
2.
Eur J Histochem ; 41(4): 285-300, 1997.
Artigo em Inglês | MEDLINE | ID: mdl-9491315

RESUMO

Samples of oesophagus, first, second and third stomach, duodenal ampulla, proximal intestine and distal intestine including rectum were obtained from striped dolphins (Stenella coeruleoalba) stranded along Italian coasts, fixed in formalin and used for immunohistochemistry. The possible presence of neuropeptides and the biogenic amine serotonin was investigated by a labelled streptavidin-biotin method. Neuropeptide Y (NPY)-, substance P-, calcitonin gene-related peptide (CGRP)-, metenkephalin-, gastrin releasing peptide (GRP)/bombesin-, and somatostatin-like immunoreactivities were present in the submucosal as well as the myenteric plexuses, even with differences of distribution in the various organs. Vasoactive intestinal poly-peptide (VIP)-like immunoreactivity was detected in the submucosal plexus, whereas beta-endorphin- and leu-enkephalin-like immunoreactivities were shown in the myenteric plexus only. NPY-, substance P-, CGRP- and VIP-like-immunoreactivities were also observed in perivascular nerve fibres. In addition, VIP-, GRP- and somatostatin-like immunoreactivities were detected in myelinated nervous bundles. These were localized in the submucosal and muscular layers all along the gastrointestinal tract, and possibly sustain an exceptionally rapid response of the target structures. It is note-worthy that peptidergic axons in the wall of the gut of the majority of mammals are unmyelinated. A somatostatin-like peptide was identified in epithelial cells only in the second stomach, whereas in terrestrial mammals this endocrine cell type occurs widely. Immunoreactivity to serotonin was never detected, and this is a further difference in comparison with the majority of other mammals.


Assuntos
Sistema Digestório/química , Golfinhos/anatomia & histologia , Golfinhos/metabolismo , Imuno-Histoquímica/métodos , Peptídeos/análise , Animais , Sistema Digestório/anatomia & histologia , Peptídeos/imunologia , Coloração e Rotulagem/métodos
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