Matilde Calanchini

Cellular Models for Understanding Adipogenesis, Adipose Dysfunction, and Obesity

White adipose tissue (WAT) is no longer considered a depot for energy storage in the form of triglycerides, but is a secretory organ that releases factors, known as adipokines, capable of regulating several physiological processes. Alteration of WAT function with subsequent dysfunctional expression and secretion of adipokines plays a key role in the pathogenesis of obesity, diabetes, and other metabolic diseases. For this reason, a deeper understanding of the molecular mechanisms regulating adipocyte function is deemed necessary for planning strategies to treat and prevent obesity and its metabolic complications. This review examines cell culture models currently available for studying adipocyte biology. We focus on advantages, disadvantages and main differences between established preadipocyte cell lines and primary preadipocyte cultures. We revise protocols used to promote adipocyte differentiation and mature adipocytes dedifferentiation into preadipocytes. Finally, we briefly describe co‐cultures of adipocytes with other cell types and three‐dimensional adipocyte culture systems. These models allow investigation of cell–cell interactions with the cross‐talk physiologically occurring between adipocytes and other cell types residing within or outside adipose tissue. J. Cell. Biochem. 110: 564–572, 2010.

Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1

AbstractObjectiveBlepharophimosis syndrome (BPES) is an autosomal dominant genetic condition resulting from heterozygous mutations in the FOXL2 gene and clinically characterized by an eyelid malformation associated (type I) or not (type II) with premature ovarian failure. The distinction between the two forms is critical for female patients, as it may allow to predict fertility and to plan an appropriate therapy. Identifying an underlying causative mutation is not always predictive of the clinical type of BPES since genotype–phenotype correlations are not yet fully delineated. Here, we describe the clinical and hormonal phenotypes of three female patients with BPES type 1 from two novel families, correlate their phenotypes with identified mutations, and investigate the effects of hormone replacement therapy (HRT). MethodsClinical, biochemical, and genetic evaluation were undertaken in all the patients and genotype–phenotype correlation was analyzed. The effects of substitutive hormonal therapy on secondary sexual characteristics development and induction of menarche were evaluated. ResultsAll patients presented with primary amenorrhea or other signs of ovarian dysfunction. Two distinct mutations, a missense p.H104R change and an in-frame p.A222_A231dup10 duplication in the FOXL2 gene were identified. Observed phenotypes were not in accordance with the prediction based on the current genotype–phenotype correlations. HRT significantly improved secondary sexual characteristics development, as well as the induction of menarche.ConclusionsThis study highlights the importance of early recognition of BPES and emphasizes the need of personalized therapy and follow-up in female patients carrying distinct FOXL2 mutations.

Chordoid glioma of the third ventricle: a patient presenting with SIADH and a review of this rare tumor

IntroductionChordoid glioma of the third ventricle is a rare and recently described tumor characterized by a unique histomorphology and exclusive association with the suprasellar/third ventricular compartment. Its clinical, radiological and histological features may vary. Despite the fact that chordoid glioma is a low-grade tumor, its prognosis has been relatively poor because of its insidious presentation and the difficulty in obtaining complete surgical resection.Materials and methodsHere, we report on a new case of chordoid glioma occurring in a 48-year-old woman, presented with hyponatremia, and on the initial work-up with a diagnosis of hyponatremia due at least in part to SIADH. We review the current literature on this rare pathology, discuss the radiological and histopathologic findings, and discuss the optimal management of chordoid glioma in general.ConclusionBased on this new case and the previous literature reports, we suggest that chordoid glioma should be included in the differential diagnosis of uncommon masses of the third ventricle, especially in middle-aged women, and we emphasize current management guidelines.