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Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome

Open Journal of Endocrine and Metabolic Diseases 2017年第1期7卷 22-34页

作者： Ana Raisa Jatahy Santos Sabrina Pinto Ferreira Moacir Benazzi Mara Capra helen paula apparicio medeiros Ana Luísa de Jesus Mirella Hansen de Almeida Larissa Bianca Paiva Cunha de Sá Alberto Krayyem Arbex Division of Endocrinology IPEMED Medical School Rio de Janeiro Brazil Porto Velho Garrison Hospital—HGuPV Porto Velho Brazil Division of Endocrinology Central Air Force Hospital Rio de Janeiro Brazil Diabetology Department Malteser Krankenhaus St. Franziskus-Hospital Flensburg Germany

Dunnigan-type partial lipodystrophy, which is characterized by a number of metabolic alterations, change in body fat distribution, and autosomal dominant inheritance pattern, is rare in the general population. Objective: To report the case of an adolescent with clinical and laboratory findings suggestive of Dunnigan-type partial lipodystrophy. Methods: Case report and literature review. Results: A 15-year-old adolescent presented at the clinic complaining of darkening of skin folds on her trunk and back. During physical examination, the presence of serious acanthosis nigricans in her cervical region, axillae, and intergluteal space was noted. Hirsutism in androgen-dependent areas was also observed, as well as relevant reduction of subcutaneous adipose tissue in the limbs, gluteal region, abdomen, and trunk and fat accumulation in the face and chin. Discussion. Dunnigan-type familial partial lipodystrophy is a rare dominant autosomal disease resulting from a heterozygous missense mutation in the LMNA gene, known as LPF type 2 (Dunnigan variant), which encodes the nuclear protein A/C-type lamin. It is characterized by the progressive disappearance of the subcutaneous adipose tissue in the limbs, gluteal region, abdomen, and trunk, with onset in puberty, followed by fat accumulation in other areas such as the face, chin, labia majora, and intra-abdominal region, leading to hypertrophy that may mimic the Cushing’s syndrome phenotype. Affected patients display marked insulin resistance and may consequently develop diabetes mellitus, acanthosis nigricans, hirsutism, and polycystic ovary syndrome. Conclusion: This case report highlights the importance of suspecting Dunnigan-type familial partial lipodystrophy in clinical practice. Early clinical diagnosis allows for measures that minimize the severe metabolic disorders associated with this disease and, consequently, these adolescents’ self-esteem issues.

关键词： Dunnigan-Type Familial Partial Lipodystrophy Insulin Resistance Heterozygous Mutation

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In vitro performance and in vivo fertility of antibiotic-free preserved boar semen stored at 5℃

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Journal of Animal Science and Biotechnology 2021年第1期12卷 250-261页

作者： helen Jäkel Kathi Scheinpflug Kristin Mühldorfer Rafael Gianluppi Matheus Schardong Lucca Ana paula Gonçalves Mellagi Fernando Pandolfo Bortolozzo Dagmar Waberski Unit of Reproductive Medicine of the Clinics/Clinic for Pigs and Small Ruminants University of Veterinary Medicine HannoverBünteweg 1530559 HannoverGermany Department of Wildlife Diseases Leibniz Institute for Zoo and Wildlife ResearchAlfred-Kowalke-Straße 1710315 BerlinGermany Animal Science Department Swine SectorFederal University of Rio Grande do SulAvenida Bento Gonçalves9090Porto Alegre 91540-000Brazil.

Background: Hypothermic preservation of boar semen is considered a potential method for omitting antibiotics from insemination doses, thereby contributing to the global antibiotic resistance defence strategy. The main challenges are chilling injury to spermatozoa and bacterial growth during semen storage leading to reduced ***: To examine chilling injury and the number and type of bacteria in boar semen stored at 5 ℃ in the absence of antibiotics, and to assess the applicability of hypothermic semen storage under field *** and methods: Boar ejaculates were extended with AndroStar~? Premium, stored at 17 ℃ with and at 5 ℃ without antibiotics and tested for functional sperm parameters by flow cytometry. Raw semen and extended samples were investigated bacteriologically. Fertility was evaluated after once-daily inseminations of 194 sows in a field ***: Lethal sperm damage assessed by motility and membrane integrity was low throughout storage in both experimental groups. Sublethal chilling effects based on the decrease of viable spermatozoa with low membrane fluidity were higher(P 0.05) between sow groups inseminated with semen stored antibiotic-free at 5 ℃ and semen stored at 17 ℃ with ***: Despite subtle chilling effects and low bacterial numbers, antibiotic-free hypothermic storage of boar semen offers the possibility to reduce the use of antibiotics in pig insemination. However, strict sanitary gu

关键词： Antibiotics Bacteria Boar semen Chilling Fertility Semen preservation

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