The Role of the GH Receptor Polymorphisms as a Prognostic Factor of Vertebral Fractures in Acromegalic Patients Resistant to First-generation SSAs and Treated with Pegvisomant or Pasireotide LAR.

BACKGROUND: Acromegaly is associated with skeletal fragility and increased prevalence of vertebral fractures (VF). Two isoforms of GH receptor (GHR) have been described, which differ in the presence or absence of a transcript of exon 3 of the GHR gene. Both isoforms produce a functional receptor, but the exon 3-deleted isoforms (d3-GHR) have greater sensitivity to endogenous and recombinant GH than the full-length isoform (fl-GHR). OBJECTIVE: We conducted a longitudinal, retrospective, observational, single-center study to investigate the role of GHR polymorphism as a prognostic factor of incidental VF (I-VF) in firstgeneration somatostatin analogs (fg-SSAs)-resistant acromegalic patients and treated with Pegvisomant or Pasireotide LAR. METHODS: Seventy-two patients with active acromegaly were included: 28 patients carried the d3-GHR isoform, and 44 patients carried the fl-GHR isoform. Forty-six patients were treated with Pegvisomant in combination with fg-SSAs, and 26 were treated with Pasireotide LAR. At the last follow-up, 58 patients achieved biochemical control of acromegaly. Eighteen patients carried prevalent VF (P-VFs), while 14 patients experienced the occurrence of I-VFs. RESULTS: From the group treated with Pegvisomant in combination with fg-SSAs, 32 patients carried the fl-GHR isoform, and 14 carried the d3-GHR isoform. From the group treated with Pasireotide LAR, 12 patients had the fl-GHR isoform, and 14 patients carried the d3-GHR isoform. I-VF occurred more frequently in patients with the fl-GHR isoform compared to d3-GHR (p =0.04); otherwise, I-VF occurred more frequently in patients with the d3-GHR isoform than fl-GHR (p =0.01). CONCLUSION: The GHR polymorphisms could improve the therapeutic approach in acromegaly, tailored to the individual patient, in the context of personalized medicine.

Unusual application of twinkling artifact.

INTRODUCTION: The aim of this paper is to show how to improve diagnostic accuracy using CDUS and twinkling artifact in patients experiencing discomfort due to the presence of small FBs in the soft tissues not clearly visible at US grayscale examination. MATERIALS AND METHODS: We enrolled 7 adult patients presenting with small (2-4 mm) superficial FBs located in the subcutaneous and muscle tissues, barely or not detectable on US grayscale. All patients underwent US grayscale and CDUS examinations. RESULTS: We identified superficial FB with twinkling artifact in all 7 patients. All of these were confirmed to represent foreign bodies after surgical excision. CONCLUSION: TA is useful in the evaluation of subcutaneous and muscular FBs and provides information on their location, depth and shape, which is useful if surgical excision is required.

A Toluene-induced Infundibulo-neurohypophysitis: A New Cause of Hypophysitis Secondary to Toxic Exposure.

BACKGROUND: Hypophysitis is a rare inflammatory disorder of the pituitary gland. Symptoms and signs of hypophysitis can be various, and its recognition may be challenging. Arginine vasopressin deficiency (AVP-D) due to exposure to a variety of drugs and toxic substances is rare, but some cases have been reported. Only 2 cases of AVP-D following toxic exposure to toluene, an aromatic hydrocarbon, have been reported in the literature. To our knowledge, our case represents the first description of an infundibulo neurohypophysitis (INH), manifested with AVP-D, secondary to inhalation of toluene. CASE REPORT: A 59-year-old man with an unremarkable medical history was referred to our department for headache, polyuria, and polydipsia after the inhalation of spray film containing toluene. The blood tests revealed a hyperosmolar plasma hypernatremia with normal kidney function. A desmopressin test was performed, with an improvement in water balances, blood electrolytes, and diuresis contraction. A pituitary MRI detected the absence of a normal hyperintense signal of the neuro-pituitary in the T1-weighted images. In consideration of the clinical signs and radiological imaging suggestive of INH, a therapy with desmopressin and corticosteroids was instituted, with gradual improvement of polyuria and resolution of the radiological features of INH. CONCLUSION: The exceptional finding of INH, manifested with AVP-D, following toluene inhalation could represent a new secondary cause of hypophysitis. The possibility that drugs or toxic substances never reported before could induce INH should not be excluded since the study on hypophysitis is relatively recent but emerging, predictably destined to increase exponentially in the coming years.

Pregnancy in Autoimmune Hypophysitis: Management of a Rare Condition.

INTRODUCTION: Hypophysitis is an inflammatory disorder of the pituitary gland. It can manifest variously, with endocrinological and neuro-ophthalmologic symptoms and signs, due to the compression of sellar and parasellar structures. CASE REPRESENTATION: Although hypophysitis is rare, this pituitary disease can occur during pregnancy or in the postpartum period. In this report, we describe the case of a woman with partial hypopituitarism secondary to autoimmune hypophysitis who, five years after the diagnosis and the immunosuppressive treatment, had an uneventful pregnancy and successfully delivered a healthy infant at term. CONCLUSION: We reported the clinical history of the patient and the evolution of the disease and also reviewed the management and treatment of autoimmune hypophysitis during pregnancy.

Desarrollo de instrumentos para estudiar el impacto en salud de las transformaciones urbanas en contextos de elevada vulnerabilidad: el estudio RUCAS / Developing tools to study the health impact of urban transformations in high vulnerability contexts: the RUCAS study / Desenvolvimento de instrumentos para estudar o impacto na saúde das transformações urbanas em contextos de alta vulnerabilidade: o estudo RUCAS

Este artículo describe el proceso de diseño y las características de un cuestionario y una pauta de observación intradomiciliaria desarrollados para evaluar tanto transversal como longitudinalmente la relación vivienda-barrio-salud en el marco de transformaciones urbanas llevadas a cabo en poblaciones de elevada vulnerabilidad socio-territorial. Los instrumentos se desarrollaron para el estudio longitudinal multimétodos RUCAS (Regeneración Urbana, Calidad de Vida y Salud), un experimento natural cuyo objetivo principal es evaluar el impacto en salud y calidad de vida de un programa de Regeneración de Conjuntos Habitacionales en dos conjuntos de vivienda social en Chile. El diseño de los instrumentos siguió cuatro etapas principales: (1) revisión narrativa de la literatura para definir las dimensiones del estudio, y de instrumentos existentes para identificar ítems apropiados para su medición; (2) validación de contenido con expertos; (3) pre-test; y (4) estudio piloto. El cuestionario resultante, compuesto de 262 ítems, tiene en cuenta las distintas etapas del ciclo vital y cuestiones de género. La pauta de observación intradomiciliaria (77 ítems) es aplicada por el/la encuestadora. Los instrumentos abordan (i) características de la situación residencial actual que sabidamente afectan la salud y serán intervenidas por el programa; (ii) dimensiones de la salud potencialmente afectadas por la situación residencial y/o por la intervención dentro de los plazos del estudio (4 años); (iii) otras condiciones de salud y relacionadas con la salud que sean relevantes, aun cuando no se verán modificadas dentro de los plazos del estudio, y (iv) dimensiones socioeconómicas, ocupacionales y demográficas relevantes. Los instrumentos han mostrado ser una herramienta capaz de abordar la multidimensionalidad de los procesos de transformación urbana en contextos de pobreza urbana en vivienda formal.

This article describes the design and characteristics of a questionnaire and an intradomiciliary observation tool developed to assess the housing-neighborhood-health relationship both cross-sectionally and longitudinally in the context of urban transformations carried out in populations of high socio-territorial vulnerability. The instruments were developed for the multi-method longitudinal study RUCAS (Urban Regeneration, Quality of Life and Health), a natural experiment aiming to assess the quality of life and health impact of a comprehensive Urban Regeneration Program in two social housing complexes in Chile. The design of the instruments followed four main stages: (1) narrative review of the literature to define the dimensions of the study, and of existing measurement instruments to identify appropriate items for measuring them; (2) content validation with experts; (3) pre-test; and (4) pilot study. The resulting questionnaire, composed of 262 items, considers the different stages of the life course and gender issues. The intradomiciliary observation tool (77 items) is applied by the interviewer. The instruments assess (i) characteristics of the current residential situation that are known to affect health and will be intervened by the program; (ii) dimensions of health potentially affected by the residential situation and/or by the intervention within the time frame of the study (4 years); (iii) other health and health-related conditions that are relevant, even if changes will not be modified within the time frame of the study; and (iv) relevant socioeconomic, occupational and demographic dimensions. The instruments have shown to be capable of addressing the multidimensionality of urban transformation processes in contexts of urban poverty in formal housing.

Este artigo descreve o processo de desenho e as características de um questionário e uma diretriz de observação intradomiciliar desenvolvida para avaliar, tanto transversal quanto longitudinalmente, a relação moradia-vizinhança-saúde no âmbito das transformações urbanas realizadas em populações de alta vulnerabilidade sócio-territorial. Os instrumentos foram desenvolvidos para o estudo longitudinal multimétodo RUCAS (Regeneração Urbana, Qualidade de Vida e Saúde), uma experiência natural destinada a avaliar a relação moradia-vizinhança-saúde e o impacto na saúde de um programa de regeneração habitacional em dois conjuntos habitacionais sociais no Chile. A concepção dos instrumentos seguiu quatro etapas principais: (1) revisão narrativa da literatura para definir as dimensões do estudo, e dos instrumentos existentes para identificar itens apropriados para a medição; (2) validação do conteúdo com especialistas; (3) pré-teste; e (4) estudo piloto. O questionário resultante, composto de 262 itens, leva em conta diferentes estágios do ciclo de vida e questões de gênero. A diretriz de observação intradomiciliar (77 itens) é aplicada pelo entrevistador. Os instrumentos abordam (i) características da situação atual da moradia que são conhecidas por afetar a saúde e serão intervencionadas pelo programa; (ii) dimensões da saúde potencialmente afetadas pela moradia e/ou pela intervenção dentro do prazo do estudo (4 anos); (iii) outras condições de saúde e relacionadas à saúde que são relevantes, mesmo que não sejam modificadas dentro do prazo do estudo; e (iv) dimensões sócioeconômicas, ocupacionais e demográficas relevantes. Os instrumentos projetados demonstraram ser uma ferramenta capaz de abordar a multidimensionalidade dos processos de transformação urbana em contextos de pobreza urbana na habitação formal.