BACKGROUND: Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited, multisystemic tumor syndrome caused by mutations in the VHL gene. To date, more than 1,000 germline and somatic mutations of the VHL gene have been reported. We present a novel mutation in the VHL tumor suppressor gene that presented with gestational diabetes mellitus. METHODS: A 30-year-old woman presented with gestational diabetes mellitus. She sequentially showed multiple pancreatic cysts, spinal cord hemangioblastoma, cerebellar hemangioblastoma, and clear cell type renal cell carcinomas. Also, her father and brother had brain hemangioblastomas. Each of the three exons of the VHL gene was individually amplified by polymerase chain reaction and direct sequencing was performed using an ABI 3730 DNA analyzer. RESULTS: DNA sequence analysis to determine the presence of VHL mutation in her family revealed del291C, a novel frameshift mutation. CONCLUSION: We found a novel mutation in the VHL tumor suppressor gene that presented with gestational diabetes mellitus.
Adult ; Brain ; Carcinoma, Renal Cell ; Diabetes, Gestational* ; DNA ; Exons ; Fathers ; Female ; Genes, Tumor Suppressor* ; Hemangioblastoma ; Humans ; Pancreatic Cyst ; Polymerase Chain Reaction ; Pregnancy ; Sequence Analysis, DNA ; Siblings ; Spinal Cord ; von Hippel-Lindau Disease

BACKGROUND: Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited, multisystemic tumor syndrome caused by mutations in the VHL gene. To date, more than 1,000 germline and somatic mutations of the VHL gene have been reported. We present a novel mutation in the VHL tumor suppressor gene that presented with gestational diabetes mellitus. METHODS: A 30-year-old woman presented with gestational diabetes mellitus. She sequentially showed multiple pancreatic cysts, spinal cord hemangioblastoma, cerebellar hemangioblastoma, and clear cell type renal cell carcinomas. Also, her father and brother had brain hemangioblastomas. Each of the three exons of the VHL gene was individually amplified by polymerase chain reaction and direct sequencing was performed using an ABI 3730 DNA analyzer. RESULTS: DNA sequence analysis to determine the presence of VHL mutation in her family revealed del291C, a novel frameshift mutation. CONCLUSION: We found a novel mutation in the VHL tumor suppressor gene that presented with gestational diabetes mellitus.
Adult ; Brain ; Carcinoma, Renal Cell ; Diabetes, Gestational* ; DNA ; Exons ; Fathers ; Female ; Genes, Tumor Suppressor* ; Hemangioblastoma ; Humans ; Pancreatic Cyst ; Polymerase Chain Reaction ; Pregnancy ; Sequence Analysis, DNA ; Siblings ; Spinal Cord ; von Hippel-Lindau Disease

The Federated States of Micronesia (FSM) is an island country in the western Pacific and is a known biodiversity hotspot. However, a relatively small number of fungi (236 species) have been reported till July 2021. Since fungi play major ecological roles in ecosystems, we investigated the fungal diversity of FSM from various sources over 2016 and 2017 and constructed a local fungal inventory, which also included the previously reported species.Fruiting bodies were collected from various host trees and fungal strains were isolated from marine and terrestrial environments. A total of 99 species, of which 78 were newly reported in the FSM, were identified at the species level using a combination of molecular and morphological approaches. Many fungal species were specific to the environment, host, or source. Upon construction of the fungal inventory, 314 species were confirmed to reside in the FSM. This inventory will serve as an important basis for monitoring fungal diversity and identifying novel biological resources in FSM.

Recently, we reported violapyrones B, C, H and I, unusual 3, 4, 6-trisubstituted alpha-pyrone derivatives, from the culture broth of the marine Streptomyces sp. 112CH148. In previous studies, violapyrones have been shown to have antibacterial and antitumor activities. However, the anti-inflammatory effect of violapyrones has not been reported yet. As part of our ongoing study for the discovery of bioactive metabolites from marine microorganisms, we found that violapyrones also have anti-inflammatory activity. In this study, we investigated the effect of violapyrones on LPS-induced inflammatory responses in vitro. Violapyrones B and C did not affect the viability of RAW 264.7 cells at concentrations up to 25 microM. However, violapyrones B and C inhibited the production of NO compared to the LPS-induced control. In addition, violapyrones B and C down-regulated the expression of iNOS protein in LPS-stimulated RAW 264.7 cells. To the best of our knowledge, this is the first report on the anti-inflammatory activity of violapyrones B and C.
Streptomyces*

Ectopic adrenocorticotropic hormone (ACTH) syndrome is caused most frequently by a bronchial carcinoid tumor or by small cell lung cancer. Medullary thyroid carcinoma (MTC) is a rare etiology of ectopic ACTH syndrome. We describe a case of Cushing syndrome due to ectopic ACTH production from MTC in a 48-year-old male. He was diagnosed with MTC 14 years ago and underwent total thyroidectomy, cervical lymph node dissection and a series of metastasectomies. MTC was confirmed by the pathological examination of the thyroid and metastatic mediastinal lymph node tissues. Two years after his last surgery, he developed Cushingoid features, such as moon face and central obesity, accompanied by uncontrolled hypertension and new-onset diabetes. The laboratory results were compatible with ectopic ACTH syndrome. A bilateral adrenalectomy improved the clinical and laboratory findings that were associated with Cushing syndrome. This is the first confirmed case of ectopic ACTH syndrome caused by MTC in Korea.
ACTH Syndrome, Ectopic ; Adrenalectomy ; Adrenocorticotropic Hormone* ; Carcinoid Tumor ; Cushing Syndrome ; Humans ; Hypertension ; Korea ; Lymph Node Excision ; Lymph Nodes ; Male ; Metastasectomy ; Middle Aged ; Obesity, Abdominal ; Small Cell Lung Carcinoma ; Thyroid Gland* ; Thyroid Neoplasms* ; Thyroidectomy