Causes of early-onset type 1 diabetes: toward data-driven environmental approaches

A new study reveals distinctive metabolic changes that precede the development of type 1 diabetes (T1D), tossing a stone into the quiet waters of T1D immunology and genetics. The causes of these metabolic changes and their relationship to autoimmunity and β cell destruction are not yet known, but the identification of a metabolic phenotype linked to susceptibility to type I diabetes may help pave the way to a new era of investigation of T1D causality

T2DM: Why Epigenetics?

Type 2 Diabetes Mellitus (T2DM) is a metabolic disorder influenced by interactions between genetic and environmental factors. Epigenetics conveys specific environmental influences into phenotypic traits through a variety of mechanisms that are often installed in early life, then persist in differentiated tissues with the power to modulate the expression of many genes, although undergoing time-dependent alterations. There is still no evidence that epigenetics contributes significantly to the causes or transmission of T2DM from one generation to another, thus, to the current environment-driven epidemics, but it has become so likely, as pointed out in this paper, that one can expect an efflorescence of epigenetic knowledge about T2DM in times to come

Cushing Syndrome in a 6-Month-Old Infant due to Adrenocortical Tumor

Cushing syndrome is rare in infancy and usually due to an adrenocortical tumor (ACT). We report an infant with Cushing syndrome due to adrenocortical carcinoma. The patient presented at six months of age with a three-month history of growth failure, rapid weight gain, acne, and irritability. Physical examination showed obesity, hypertension, and Cushingoid features. Biochemical evaluation showed very high serum cortisol, mildly elevated testosterone, and suppressed ACTH. Abdominal MRI revealed a heterogeneous right adrenal mass extending into the inferior vena cava. Evaluation for metastases was negative. The tumor was removed surgically en bloc. Pathologic examination demonstrated low mitotic rate, but capsular and vascular invasion. She received no adjuvant therapy. Her linear growth has improved and Cushingoid features resolved. Hormonal markers and quarterly PET scans have been negative for recurrence 24 months postoperatively. In conclusion, adrenocortical neoplasms in children are rare, but should be considered in the differential diagnosis of Cushing syndrome

Factors Affecting Sperm Motility Of Tetraploid Pacific Oysters

Factors such as osmotic pressure, extender solution, addition of caffeine, and pH have been shown to affect sperm motility in aquatic species. We evaluated the effects of 18 osmotic pressures, two extender solutions, seven caffeine concentrations, and a pH range of 3 to 14 on motility of sperm from tetraploid Pacific oysters, Crassostrea gigas. Motility was highest at 1000 mOsmol/kg (mean +/- SD: 83 +/- 14%). Calcium-free Hanks\u27 balanced salt solution yielded significantly higher sperm motility than did artificial seawater. Sperm motility increased with caffeine concentrations to 20 mM (81 +/- 12%) and decreased when concentrations were higher than 50 mM (55 +/- 20%). Highest motility was obtained at a pH range of from 4 to 12; values outside this range yielded no motility. Addition of 10 mM caffeine to the different pH treatments also enhanced motility significantly. Overall, calcium-free Hanks\u27 balanced salt solution at 1,000 mOsmol/kg, the addition of 10 mM caffeine, and a pH of around 10 could be used to enhance sperm motility of tetraploid Pacific oysters. Our findings would assist the use of motility assays to evaluate the effectiveness of various refrigeration or cryopreservation procedures, especially outside of the peak spawning season, when sperm motility can be low and variable

The Polygram, April 9, 1925

Student newspaper of California Polytechnic State University, San Luis Obispo, CA.https://digitalcommons.calpoly.edu/studentnewspaper/1152/thumbnail.jp

46,XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome, 5α-Reductase-2 Deficiency, or 17β-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes

Disorders of sex development refer to a collection of congenital conditions in which atypical development of chromosomal, gonadal, or anatomic sex occurs. Studies of 46,XY DSD have focused largely on gender identity, gender role, and sexual orientation. Few studies have focused on other domains, such as physical and mental health, that may contribute to a person's quality of life. The current review focuses on information published since 1955 pertaining to psychological well-being, cognition, general health, fertility, and sexual function in people affected by androgen insensitivity syndromes, 5-α reductase-2 deficiency, or 17β-hydroxysteroid dehydrogenase-3 deficiency—reared male or female. The complete form of androgen insensitivity syndrome has been the focus of the largest number of investigations in domains other than gender. Despite this, all of the conditions included in the current review are under-studied. Realms identified for further study include psychological well-being, cognitive abilities, general health, fertility, and sexual function. Such investigations would not only improve the quality of life for those affected by DSD but may also provide information for improving physical and mental health in the general population

Sexuality and fertility desire in a large cohort of individuals with 46, XY differences in sex development

Objective: To analyze aspects of sexual life and fertility desire among 46, XY DSD people, including those who changed their gender. Methods: It is a cross-sectional study including 127 adults (> 16 years of age) with 46, XY DSD (83 females; 44 males) from a Single Brazilian Tertiary-Care Medical Center. Results: Sexual fantasies and masturbation were more frequent in 46, XY DSD males, whereas orgasm and sexual life satisfaction were similar in both genders. More 46, XY DSD men than women had a long-term romantic relationship. 46, XY DSD women with prenatal androgen exposure reported more fear of being romantically rejected. External genitalia appearance at birth did not impact the sexuality of 46, XY DSD women after surgical genital treatment had been completed. Overall, the sexual life was similar between 46, XY men assigned as males and those who changed to the male gender. Regarding sexual orientation, most self-reported as heterosexual (91% and 92% of women and men, respectively). The desire for fertility had a similar prevalence in both genders, but more women than men considered infertility a barrier to a long-term romantic relationship. Twelve individuals (7 males) had children; 10 out of 12 have adopted children. Conclusion: Fertility desire was shared among 46, XY DSD people, regardless of gender. Prenatal androgen exposure reduced the desire for motherhood in 46, XY women. 46, XY DSD people who changed from female to male gender presented similar sexual parameters as those assigned as males. Among females, virilized genitalia at birth did not affect sexuality once the surgical treatment is completed

REPRESENTATIONS DE LA PERFORMANCE DANS LES ENTREPRISES DE GRANDE DISTRIBUTION ALIMENTAIRE. LA COHERENCE EN QUESTION

Dans les entreprises de grande distribution alimentaire intégrées, le contrôle opérationnel, fondé sur des représentations de la performance a priori explicites et fortement rationnelles, répond à une logique principalement financière. Par hypothèse, l'activité de contrôle de ces entreprises devrait se caractériser par une vision partagée et cohérente de la performance de l'organisation pour l'ensemble des acteurs. Notre communication se propose de tester, à travers les résultats d'une enquête réalisée auprès de cadres du secteur de la distribution alimentaire, l'hypothèse de cohérence des représentations de la performance dans une perspective cognitive.Contrôle ; Cohérence; Représentations ; Cartographie causale

Suffolk Journal, Vol. 52, No. 17, 2/02/1994

https://dc.suffolk.edu/journal/1948/thumbnail.jp