Adrenal gland involvement in 11-ketotestosterone production analyzed using LC-MS/MS.

Introduction: 11-ketotestosterone (11KT), which is derived by the bioconversion of testosterone 11β-hydroxytestosterone (11OHT), is a potent agonist of the human androgen receptor. The adrenal gland is considered an important organ in 11KT production because CYP11B1, which catalyzes testosterone to 11OHT, is expressed in the adrenal glands. The present study aimed to demonstrate adrenal gland involvement in 11KT production in prepubertal children, a topic which has not yet been addressed by any previous studies.

Fracture risk, underlying pathophysiology, and bone quality assessment in patients with Turner syndrome.

Turner syndrome (TS), the most common type of X chromosomal disorder, has various, clinical manifestations. Among these, primary hypogonadism, which may lead to osteoporosis, is a life-long health issue. A high prevalence of fractures associated with osteoporosis is a major problem in patients with TS, where it may be 1.

TPT1 Supports Proliferation of Neural Stem/Progenitor Cells and Brain Tumor Initiating Cells Regulated by Macrophage Migration Inhibitory Factor (MIF).

One of the key areas in stem cell research is the identification of factors capable of promoting the expansion of Neural Stem Cell/Progenitor Cells (NSPCs) and understanding their molecular mechanisms for future use in clinical settings. We previously identified Macrophage Migration Inhibitory Factor (MIF) as a novel factor that can support the proliferation and/or survival of NSPCs based on in vitro functional cloning strategy and revealed that MIF can support the proliferation of human brain tumor-initiating cells (BTICs). However, the detailed downstream signaling for the functions has largely remained unknown.

Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3.

Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3) is a rare autosomal dominant syndrome caused by Kinesin family Member 2A (KIF2A) gene mutation. Patients with CDCBM3 exhibit posterior dominant agyria/pachygyria with severe motor dysfunction. Here, we report an 8-year-old boy with CDCBM3 showing a typical, but relatively mild, clinical presentation of CDCBM3 features.

Pathological role of excessive DNA as a trigger of keratinocyte proliferation in psoriasis.

Psoriasis is characterized by excessive growth and aberrant differentiation of epidermal keratinocytes due to persistent inflammation. However, the underlying mechanism that triggers immune activation in psoriasis is not clear. In this study, we explored excessive DNA as a potential trigger of psoriasis using cultured human keratinocytes and psoriatic skin tissues.

Baicalein Targets GTPase-Mediated Autophagy to Eliminate Liver Tumor-Initiating Stem Cell-Like Cells Resistant to mTORC1 Inhibition.

Drug resistance is a major problem in the treatment of liver cancer. Mammalian Target of Rapamycin 1 (mTORC1) inhibitors have been tested for the treatment of liver cancer based on hyperactive mTOR in this malignancy. However, their clinical trials showed poor outcome, most likely due to their ability to upregulate CD133 and promote chemoresistance.

Two-stage resection of a bilateral pheochromocytoma and pancreatic neuroendocrine tumor in a patient with von Hippel-Lindau disease: A case report.

Introduction: von Hippel-Lindau disease (vHL disease) is a hereditary disease in which tumors and cysts develop in many organs, in association with central nervous system hemangioblastomas, pheochromocytomas, and pancreatic tumors. We herein report a case of vHL disease (type 2A) associated with bilateral pheochromocytomas, pancreatic neuroendocrine tumors (PNET), and cerebellar hemangioblastomas treated via pancreatectomy after adrenalectomy.

Case Presentation: A 51-year-old woman presented with a cerebellar tumor, bilateral hypernephroma, and pancreatic tumor detected during a medical checkup.

Three novel mutations associated with advanced pulmonary arterial hypertension.

Mutations in the bone morphogenetic protein receptor type II () gene may result in the development of pulmonary arterial hypertension (PAH). However, the contribution of disease-causing mutations to the disease characteristics and responsiveness to recent treatment remains to be elucidated. We report three Japanese cases of advanced PAH with novel mutations, including two splicing mutations (IVS8-6_7delTTinsA and IVS9-2A>G) and one deletion (c.

Massive bilateral vitreoretinal hemorrhage in patient with chronic refractory idiopathic thrombocytopenic purpura.

Background: We describe a patient with chronic, refractory idiopathic thrombocytopenic purpura (ITP) who developed massive vitreoretinal hemorrhages in both eyes.

Methods: A 49-year-old woman complained of an acute decrease of vision, and ophthalmoscopy revealed bilateral preretinal and subretinal hemorrhages around the optic disc. Her platelet counts were less than 5000/mul in spite of repetitive administration of corticosteroids and immunoglobulins with splenectomy for the chronic refractory ITP.

Coexpression of VEGF receptors VEGF-R2 and neuropilin-1 in proliferative diabetic retinopathy.

Purpose: To elucidate vascular endothelial growth factor (VEGF)-mediated pathogenesis of fibrovascular proliferation in diabetic retinopathy.

Methods: Fibrovascular tissues were obtained at vitrectomy from 22 cases with proliferative diabetic retinopathy. The half-divided tissues were processed for reverse transcription-polymerase chain reaction (RT-PCR) analysis to examine the expression of VEGF isoforms and their receptors.

[A case of posttraumatic spinal pseudomeningocele which caused spinal cord compression 20 years after injury].

We reported an extremely rare case of posttraumatic spinal pseudomeningocele which caused spinal cord compression 20 years after getting injury, and demonstrated that sequelae of an injury may occur many years after the original wound. A 39-year-old man, who got left cervical root avulsion due to a traffic accident when he was 17 years old, began to complain of progressive muscle atrophy and weakness of left lower extremity 1 year ago. Myelography demonstrated pseudomeningocele at left C6-C8 level, and MRI and CT myelography revealed that the pseudomeningocele extends through the intervertebral foramen and compresses the spinal cord to the right side in the spinal canal.

Effects of nicardipine on blood pressure and renal function in elderly hypertensive patients with renal dysfunction.

The effects of monotherapy with nicardipine, 20 mg three times a day, have been investigated in a 1-year study of 26 elderly (greater than 60 years) patients with hypertension with various types of renal dysfunction and seven without renal dysfunction. Parameters measured included blood pressure, blood chemistry (serum creatinine, uric acid, blood urea nitrogen, blood glucose total cholesterol, and electrolytes), plasma renin activity, and plasma aldosterone concentration. Nicardipine was effective in reducing blood pressure in all patients with diabetic nephropathy, parenchymal renal diseases, or hypertensive nephropathy, and in those without renal dysfunction.