Thymic neuroendocrine tumors in patients with multiple endocrine neoplasia type 1.

Objective: MEN1 is associated with an increased risk of developing tumors in different endocrine organs. Neuroendocrine tumors of the thymus (TNETs) are very rare but often have an aggressive nature. We evaluated patients with MEN1 and TNET in three university hospitals in Finland.

Acromegaly caused by a GHRH-producing pancreatic neuroendocrine tumor: a rare manifestation of MEN1 syndrome.

Summary: Multiple endocrine neoplasia type 1 NM_001370259.2(MEN1):c.466G>C(p.

Long-term morbidity and mortality in patients diagnosed with an insulinoma.

Objective: Insulinomas are rare functional pancreatic neuroendocrine tumours. As previous data on the long-term prognosis of insulinoma patients are scarce, we studied the morbidity and mortality in the Finnish insulinoma cohort.

Design: Retrospective cohort study.

Characteristics and outcomes of the Finnish ectopic ACTH syndrome cohort.

Purpose: Ectopic ACTH syndrome (EAS) is rare. We established a national cohort to increase awareness and address unmet needs.

Methods: The Finnish national EAS cohort includes 60 patients diagnosed in 1997-2016.

Is climacterium by the mid-40s associated with thyroid dysfunction or autoimmunity? A population-based study.

Objective: We investigated whether more advanced climacteric stage in the mid-40s is associated with thyroid autoimmunity and dysfunction.

Methods: This cross-sectional cohort study included 2,569 46-year-old women. Thyroid hormone, thyroid peroxidase antibodies, and follicle-stimulating hormone levels were determined.

Long-term health-related quality of life in persons diagnosed with an insulinoma in Finland 1980-2010.

Objective: Insulinomas are rare pancreatic neoplasms, which can usually be cured by surgery. As the diagnostic delay is often long and the prolonged hyperinsulinemia may have long-term effects on health and the quality of life, we studied the long-term health-related quality of life (HRQoL) in insulinoma patients.

Design, Patients And Measurements: The HRQoL of adults diagnosed with an insulinoma in Finland in 1980-2010 was studied with the 15D instrument, and the results were compared to those of an age- and gender-matched sample of the general population.

Onset of the climacteric phase by the mid-forties associated with impaired insulin sensitivity: a birth cohort study.

Objective: To investigate whether the early-onset menopausal transition is associated with deteriorated glucose tolerance in women in their mid-forties.

Methods: A cross-sectional analysis of a cohort study including 2,632 women of the Northern Finland Birth Cohort 1966. The participants were divided into two groups by their menstrual history and follicle-stimulating hormone values at age 46: climacteric and preclimacteric women.

A Plasma Protein Biomarker Strategy for Detection of Small Intestinal Neuroendocrine Tumors.

Background: Small intestinal neuroendocrine tumors (SI-NETs) are difficult to diagnose in the early stage of disease. Current blood biomarkers such as chromogranin A (CgA) and 5-hydroxyindolacetic acid have low sensitivity (SEN) and specificity (SPE). This is a first preplanned interim analysis (Nordic non-interventional, prospective, exploratory, EXPLAIN study [NCT02630654]).

Recurrent Metastasized Parathyroid Carcinoma-Long-Term Remission After Combined Treatments With Surgery, Radiotherapy, Cinacalcet, Zoledronic Acid, and Temozolomide.

Parathyroid carcinoma is a rare cause of primary hyperparathyroidism with rather poor prognosis. Apart from surgery, no evidence-based treatments exist. A 48-year-old woman presented with weight loss, nausea, constipation, hypercalcemic crisis, and a recurrent neck tumor 5 years after primary surgery of a parathyroid tumor that primarily was classified as an adenoma.

Characteristics and Outcomes of 79 Patients with an Insulinoma: A Nationwide Retrospective Study in Finland.

Objective: Insulinomas are rare pancreatic tumours. Population-based data on their incidence, clinical picture, diagnosis, and treatment are almost nonexistent. The aim of this study was to clarify these aspects in a nationwide cohort of insulinoma patients diagnosed during three decades.

Genetic Variants in SGLT1, Glucose Tolerance, and Cardiometabolic Risk.

Background: Loss-of-function mutations in the SGLT1 (sodium/glucose co-transporter-1) gene result in a rare glucose/galactose malabsorption disorder and neonatal death if untreated. In the general population, variants related to intestinal glucose absorption remain uncharacterized.

Objectives: The goal of this study was to identify functional SGLT1 gene variants and characterize their clinical consequences.

Antipsychotic drug-induced hypoglycemia and hypothermia.

This case report comprises three cases of antipsychotic drug-induced hypoglycemia and hypothermia. The mechanisms behind these side-effects are not known, but in hypoglycemia we describe signs of inappropriate insulin secretion. We assume that antipsychotic drug-induced hypoglycemia and hypothermia are underdiagnosed.

Long-term cardiovascular morbidity and mortality in patients treated for differentiated thyroid cancer.

Objectives: Thyroid hormone suppression therapy has been widely used in the treatment of thyroid cancer, but concerns have been raised about the cardiovascular risks of this treatment. The objective of this study was to evaluate long-term cardiovascular morbidity and mortality in patients treated for differentiated thyroid cancer (DTC) and to assess the effect of TSH suppression and radioiodine (RAI) treatment on the cardiovascular outcome.

Design: Retrospective cohort study.

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.

Familial growth hormone deficiency provides an opportunity to identify new genetic causes of short stature. Here we combine linkage analysis with whole-genome resequencing in patients with growth hormone deficiency and maternally inherited gingival fibromatosis. We report that patients from three unrelated families harbor either of two missense mutations, c.

Exome-wide association study of plasma lipids in >300,000 individuals.

We screened variants on an exome-focused genotyping array in >300,000 participants (replication in >280,000 participants) and identified 444 independent variants in 250 loci significantly associated with total cholesterol (TC), high-density-lipoprotein cholesterol (HDL-C), low-density-lipoprotein cholesterol (LDL-C), and/or triglycerides (TG). At two loci (JAK2 and A1CF), experimental analysis in mice showed lipid changes consistent with the human data. We also found that: (i) beta-thalassemia trait carriers displayed lower TC and were protected from coronary artery disease (CAD); (ii) excluding the CETP locus, there was not a predictable relationship between plasma HDL-C and risk for age-related macular degeneration; (iii) only some mechanisms of lowering LDL-C appeared to increase risk for type 2 diabetes (T2D); and (iv) TG-lowering alleles involved in hepatic production of TG-rich lipoproteins (TM6SF2 and PNPLA3) tracked with higher liver fat, higher risk for T2D, and lower risk for CAD, whereas TG-lowering alleles involved in peripheral lipolysis (LPL and ANGPTL4) had no effect on liver fat but decreased risks for both T2D and CAD.

Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

[This corrects the article DOI: 10.1371/journal.pgen.

Rare and low-frequency coding variants alter human adult height.

Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.

Mortality in acromegaly: a 20-year follow-up study.

Objective: It is unclear whether mortality still is increased in acromegaly and whether there are gender-related differences. We dynamically assessed outcome during long-term follow-up in our nationwide cohort.

Patients And Methods: We studied standardized mortality ratios (SMRs) relative to the general population and causes of death in acromegaly (n=333) compared with age- and gender-matched controls (n=4995).

Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients.

Despite being a classical growth disorder, pituitary gigantism has not been studied previously in a standardized way. We performed a retrospective, multicenter, international study to characterize a large series of pituitary gigantism patients. We included 208 patients (163 males; 78.

[Assessment of ischaemia of ulcerated diabetic foot and its treatment according to recent international guidelines].

Half of diabetic ulcers are ischaemic, almost all neuropathic and the problem is often worsened by infection. Ischaemia can often be repaired if diagnosed and treated early enough. At present, ischaemia is often diagnosed far too late.

Prevalence of diabetic retinopathy in young adults with type 1 diabetes since childhood: the Oulu cohort study of diabetic retinopathy.

Purpose: To evaluate the prevalence and stage of diabetic retinopathy (DR) in a population-based cohort of young Finnish adults who have had type 1 diabetes (T1D) since childhood.

Material And Methods: The cohort includes all 5- to 16-year-old patients with T1D who lived in the Northern Ostrobothnia Hospital District of Finland, in 1989 (n = 216). DR was evaluated from fundus photographs taken in 1989-1990 and again in 2007.

Complementary roles of 18F-DOPA PET/CT and 18F-FDG PET/CT in medullary thyroid cancer.

Unlabelled: Serum calcitonin and carcinoembryonic antigen (CEA) are markers of recurrent or persistent disease in medullary thyroid cancer (MTC). However, conventional imaging often fails to localize metastatic disease. Our aim was to compare fluorine-labeled dihydroxyphenylalanine ((18)F-DOPA) and (18)F-FDG PET/CT with multidetector CT (MDCT) and MRI in recurrent or persistent MTC.