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- Mantovani, G, et al.
(författare)
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Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients
- 2020
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Ingår i: Hormone research in paediatrics. - : S. Karger AG. - 1663-2826 .- 1663-2818. ; 93:3, s. 182-196
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Tidskriftsartikel (refereegranskat)abstract
- Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydactyly, a short stature, a stocky build, early-onset obesity, ectopic ossifications, and neurodevelopmental deficits, as well as hormonal resistance most prominently to parathyroid hormone (PTH). In addition to these alterations, patients may develop other hormonal resistances, leading to overt or subclinical hypothyroidism, hypogonadism and growth hormone (GH) deficiency, impaired growth without measurable evidence for hormonal abnormalities, type 2 diabetes, and skeletal issues with potentially severe limitation of mobility. PHP and related disorders are primarily clinical diagnoses. Given the variability of the clinical, radiological, and biochemical presentation, establishment of the molecular diagnosis is of critical importance for patients. It facilitates management, including prevention of complications, screening and treatment of endocrine deficits, supportive measures, and appropriate genetic counselling. Based on the first international consensus statement for these disorders, this article provides an updated and ready-to-use tool to help physicians and patients outlining relevant interventions and their timing. A life-long coordinated and multidisciplinary approach is recommended, starting as far as possible in early infancy and continuing throughout adulthood with an appropriate and timely transition from pediatric to adult care.
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| 2. |
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| 3. |
- Monaci, Marco, et al.
(författare)
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Shear, writhe, and filaments: Turbulence in the high-latitude molecular cloud MBM 40
- 2023
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Ingår i: Astronomy and Astrophysics. - 0004-6361 .- 1432-0746. ; 676
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Tidskriftsartikel (refereegranskat)abstract
- Context. Given the structural and thermodynamical complexity of the interstellar medium (ISM), the variety of governing processes, such as stellar feedback, poses challenges to the investigation. High-latitude molecular clouds (HLMCs) with no evidence of internal star formation, as in the case of MBM 40, are excellent sites for studying the chemistry and dynamic evolution of the cold neutral ISM. Aims. We used this high-latitude cloud as an exemplar for the dynamical and chemical processes in the diffuse interstellar medium. Methods. We analyzed new and archival 12CO, 13CO, CH, HCO+, CS, H2CO, and HCN data from Five College Radio Observatory (FCRAO), Onsala Space Observatory (OSO), Arizona Radio Observatory (ARO), and W. Gordon telescope (Arecibo) combined with the Galactic Arecibo L-band Feed Array H I (GALFA-HI) H I 21 cm data set, to study the chemistry, thermal state, and dynamics of MBM 40. A new dynamical analytical approach was adopted by considering each line profile as a line-of-sight probability distribution function (PDF) of the turbulence weighted by gas emissivity. Results. The atomic and molecular gas are smoothly distributed in space and velocity. No steep transition is seen between circumcloud atomic and cloud molecular gas in either radial velocity or structure. We propose a topology of the cloud based on molecular tracers, as a contorted filamentary structure that is shaped by a broad embedding shear flow in the neutral atomic gas. A comparative examination of different molecular tracers shows that 13CO, H2CO, and CS only arise from denser molecular cores, whereas 12CO, CH, and HCO+ trace diffuse gas with a broader range of dynamics.
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| 4. |
- Wu, Chuanyan, et al.
(författare)
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Elevated circulating follistatin associates with an increased risk of type 2 diabetes
- 2021
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12, s. 1-10
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Tidskriftsartikel (refereegranskat)abstract
- The hepatokine follistatin is elevated in patients with type 2 diabetes (T2D) and promotes hyperglycemia in mice. Here we explore the relationship of plasma follistatin levels with incident T2D and mechanisms involved. Adjusted hazard ratio (HR) per standard deviation (SD) increase in follistatin levels for T2D is 1.24 (CI: 1.04-1.47, p < 0.05) during 19-year follow-up (n = 4060, Sweden); and 1.31 (CI: 1.09-1.58, p < 0.01) during 4-year follow-up (n = 883, Finland). High circulating follistatin associates with adipose tissue insulin resistance and non-alcoholic fatty liver disease (n = 210, Germany). In human adipocytes, follistatin dose-dependently increases free fatty acid release. In genome-wide association study (GWAS), variation in the glucokinase regulatory protein gene (GCKR) associates with plasma follistatin levels (n = 4239, Sweden; n = 885, UK, Italy and Sweden) and GCKR regulates follistatin secretion in hepatocytes in vitro. Our findings suggest that GCKR regulates follistatin secretion and that elevated circulating follistatin associates with an increased risk of T2D by inducing adipose tissue insulin resistance.
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