Magnetic resonance imaging as a predictor of therapeutic response to pasireotide in acromegaly.

OBJECTIVE: Hyperintensity signal in T2-weighted magnetic resonance imaging (MRI) has been related to better therapeutic response during pasireotide treatment in acromegaly. The aim of the study was to evaluate T2 MRI signal intensity and its relation with pasireotide therapeutic effectiveness in real-life clinical practice. DESIGN, PATIENTS AND MEASUREMENTS: Retrospective multicentre study including acromegaly patients treated with pasireotide. Adenoma T2-weighted MRI signal at diagnosis was qualitatively classified as iso-hyperintense or hypointense. Insulin-like growth factor (IGF-I), growth hormone (GH) and tumour volume reduction were assessed after 6 and 12 months of treatment and its effectiveness evaluated according to baseline MRI signal. Hormonal response was considered 'complete' when normalization of IGF-I levels was achieved. Significant tumour shrinkage was defined as a volume reduction of ≥25% from baseline. RESULTS: Eighty-one patients were included (48% women, 50 ± 1.5 years); 93% had previously received somatostatin receptor ligands (SRLs) treatment. MRI signal was hypointense in 25 (31%) and hyperintense in 56 (69%) cases. At 12 months of follow-up, 42/73 cases (58%) showed normalization of IGF-I and 37% both GH and IGF-I. MRI signal intensity was not associated with hormonal control. 19/51 cases (37%) presented a significant tumour volume shrinkage, 16 (41%) from the hyperintense group and 3 (25%) from the hypointense. CONCLUSIONS: T2-signal hyperintensity was more frequently observed in pasireotide treated patients. Almost 60% of SRLs resistant patients showed a complete normalization of IGF-I after 1 year of pasireotide treatment, regardless of the MRI signal. There was also no difference in the percentage tumour shrinkage over basal residual volume between the two groups.

Parietex™ Composite Ventral Patch for primary and incisional hernia repair.

BACKGROUNDS: Ventral hernia repair with a preformed device is a frequent intervention, but few reports exist with Parietex™ Composite Ventral Patch. The aim was to evaluate the results of this mesh with the open intraperitoneal onlay mesh (open IPOM) technique. METHODS: Observational retrospective single institution study of all consecutive patients intervened for ventral or incisional hernia with a diameter inferior to 4 cm, from January 2013 to June 2020. The surgical repair was performed according to the open IPOM technique with Parietex™ Composite Ventral Patch. RESULTS: A total of 146 patients were intervened: 61.6% with umbilical hernias, 8.2% with epigastric hernias, 26.7% with trocar incisional hernias, and 3.4% with other incisional hernias. The global recurrence rate was 7.5% (11/146). Specifically, it was 7.8% in umbilical hernias, 0% in epigastric hernias, 7.7% in trocar incisional hernias and 20% (1/5) in other incisional hernias. The median time for recurrence was 14 months (IQR: 4.4-18.7). The median indirect follow-up was 36.9 months (IQR: 27.2-49.6), and the median presential follow-up was 17.4 months (IQR: 6.5-27.3). CONCLUSION: The open IPOM technique with a preformed patch offered satisfactory results for the treatment of ventral and incisional hernias.

Insuficiencia suprarrenal debida a adrenoleucodistrofia ligada al cromosoma X diagnosticada en la edad adulta / Primary adrenal insufficiency due to X-linked adrenoleukodystrophy diagnosed in adulthood

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Reclasificación de una diabetes mellitus tipo 1 en diabetes neonatal permanente y transferencia efectiva de insulina a sulfonilurea / Reclassification of a consistent neonatal type 1 diabetes mellitus and effective transfer from insulin to sulphonylurea

No disponible

The aconitate hydratase family from Citrus.

BACKGROUND: Research on citrus fruit ripening has received considerable attention because of the importance of citrus fruits for the human diet. Organic acids are among the main determinants of taste and organoleptic quality of fruits and hence the control of fruit acidity loss has a strong economical relevance. In citrus, organic acids accumulate in the juice sac cells of developing fruits and are catabolized thereafter during ripening. Aconitase, that transforms citrate to isocitrate, is the first step of citric acid catabolism and a major component of the citrate utilization machinery. In this work, the citrus aconitase gene family was first characterized and a phylogenetic analysis was then carried out in order to understand the evolutionary history of this family in plants. Gene expression analyses of the citrus aconitase family were subsequently performed in several acidic and acidless genotypes to elucidate their involvement in acid homeostasis. RESULTS: Analysis of 460,000 citrus ESTs, followed by sequencing of complete cDNA clones, identified in citrus 3 transcription units coding for putatively active aconitate hydratase proteins, named as CcAco1, CcAco2 and CcAco3. A phylogenetic study carried on the Aco family in 14 plant species, shows the presence of 5 Aco subfamilies, and that the ancestor of monocot and dicot species shared at least one Aco gene. Real-time RT-PCR expression analyses of the three aconitase citrus genes were performed in pulp tissues along fruit development in acidic and acidless citrus varieties such as mandarins, oranges and lemons. While CcAco3 expression was always low, CcAco1 and CcAco2 genes were generally induced during the rapid phase of fruit growth along with the maximum in acidity and the beginning of the acid reduction. Two exceptions to this general pattern were found: 1) Clemenules mandarin failed inducing CcAco2 although acid levels were rapidly reduced; and 2) the acidless "Sucreña" orange showed unusually high levels of expression of both aconitases, an observation correlating with the acidless phenotype. However, in the acidless "Dulce" lemon aconitase expression was normal suggesting that the acidless trait in this variety is not dependent upon aconitases. CONCLUSIONS: Phylogenetic studies showed the occurrence of five different subfamilies of aconitate hydratase in plants and sequence analyses identified three active genes in citrus. The pattern of expression of two of these genes, CcAco1 and CcAco2, was normally associated with the timing of acid content reduction in most genotypes. Two exceptions to this general observation suggest the occurrence of additional regulatory steps of citrate homeostasis in citrus.

[Routine performance of thyroid ultrasound and fine-needle aspiration biopsy in the setting of a high-resolution endocrinology practice]. / Incorporación de la ecografía y la punción de tiroides a la actividad de endocrinología en una consulta de alta resolución.

INTRODUCTION: Fine-needle aspiration biopsy (FNAB) is considered the reference diagnostic procedure for thyroid nodules. MATERIALS AND METHODS: Routine performance of thyroid ultrasound and ultrasound-guided FNAB by endocrinologists allows a more efficient approach in the setting of a high-resolution practice, thus reducing costs and the time elapsed until diagnosis. RESULTS: We present our initial results of this procedure 2 years after its introduction, with a total of 286 biopsies performed. After a progressive learning curve over time and according to the endocrinologists' previous experience, 72.72% samples were considered satisfactory for diagnosis. Greater difficulty was observed in obtaining optimal cytological specimens in smaller nodules. In conclusion, we have successfully incorporated thyroid ultrasound and ultrasound-guided FNAB into routine endocrine practice. CONCLUSION: Routine performance of thyroid ultrasound in endocrine practice will considerably aid the management of nodular thyroid disease.

Incorporación de la ecografía y la punción de tiroides a la actividad de endocrinología en una consulta de alta resolución / Routine performance of thyroid ultrasound and fine-needle aspiration biopsy in the setting of a high-resolution endocrinology practice

Introducción La PAAF es el procedimiento de referencia para el diagnóstico del nódulo tiroideo. Material y métodos La incorporación de la ecografía cervical y la PAAF guiada por ecografía a la actividad del médico endocrinólogo permite abordar esta patología en el ámbito de una consulta de alta resolución, con la consiguiente reducción en el coste del proceso y en la demora del diagnóstico. Resultados Presentamos los resultados iniciales de esta consulta; tras los dos primeros años y con un total de 286 punciones, nos situamos en un 72,72% de citologías aptas para diagnóstico, siguiendo una curva de aprendizaje acorde con el tiempo transcurrido y con la experiencia previa. Observamos una mayor dificultad en la obtención de citologías óptimas para diagnóstico en los nódulos de menor tamaño. En resumen, hemos incorporado la ecografía y la PAAF guiada por ecografía de manera satisfactoria a la consulta endocrinológica. Conclusión El uso de manera rutinaria de la ecografía en la consulta de endocrinología permite agilizar el manejo de la patología nodular tiroidea (AU)

Introduction Fine-needle aspiration biopsy (FNAB) is considered the reference diagnostic procedure for thyroid nodules. Materials and methods Routine performance of thyroid ultrasound and ultrasound-guided FNAB by endocrinologists allows a more efficient approach in the setting of a high-resolution practice, thus reducing costs and the time elapsed until diagnosis. Results We present our initial results of this procedure 2 years after its introduction, with a total of 286 biopsies performed. After a progressive learning curve over time and according to the endocrinologists’ previous experience, 72.72% samples were considered satisfactory for diagnosis. Greater difficulty was observed in obtaining optimal cytological specimens in smaller nodules. In conclusion, we have successfully incorporated thyroid ultrasound and ultrasound-guided FNAB into routine endocrine practice. Conclusion Routine performance of thyroid ultrasound in endocrine practice will considerably aid the management of nodular thyroid disease (AU)