A5073956602- Growth Hormone and Insulin-like Growth Factors
- Genetic Syndromes and Imprinting
- Thyroid Disorders and Treatments
- Meningioma and schwannoma management
- Intracranial Aneurysms: Treatment and Complications
- Glioma Diagnosis and Treatment
- Pituitary Gland Disorders and Treatments
- Parathyroid Disorders and Treatments
- Neurosurgical Procedures and Complications
- Genetics and Neurodevelopmental Disorders
- Traumatic Brain Injury and Neurovascular Disturbances
- Tryptophan and brain disorders
- Stress Responses and Cortisol
- Hormonal Regulation and Hypertension
- Hypothalamic control of reproductive hormones
- Spinal Fractures and Fixation Techniques
- Thyroid and Parathyroid Surgery
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Cerebrospinal fluid and hydrocephalus
- Infectious Diseases and Tuberculosis
- Intracerebral and Subarachnoid Hemorrhage Research
- Testicular diseases and treatments
- RNA modifications and cancer
- Sexual Differentiation and Disorders
- Vascular Malformations Diagnosis and Treatment
Jikei University School of Medicine
2011-2024
Society for Endocrinology
2015
Katsushika Medical Center
2002
Tokai University
2002
Vanderbilt University
1997-2001
Sendai Kousei Hospital
1998-2000
Neurological Surgery
2000
Okayama University
2000
Iwakuni Medical Center
1986-1996
The insulin receptor (INSR) gene was analyzed in four patients with severe resistance, revealing five novel mutations and a deletion that removed exon 2. A patient Donohue syndrome (DS) had p.V657F mutation the second fibronectin type III domain (FnIII-2), which contains α-β cleavage site part of insulin-binding site. mutant INSR expressed Chinese hamster ovary cells, it reduced proreceptor processing impaired activation downstream signaling cascades. Using online databases, we 82 missense...
Lipopolysaccharide (LPS) is responsible for initiating host responses leading to septic shock, and tumor necrosis factor-alpha (TNF alpha) thought be its primary mediator. In addition, TNF alpha one of the major components pathogenesis insulin resistance in various conditions. It has been shown that LPS induced production rat vascular smooth muscle cells (VSMC). However, little known about signaling pathway by which VSMC culture produce alpha. We investigated possible involved this pathway....
We experienced a case of fetal goitrous hypothyroidism in an infant delivered by 33-year-old woman receiving 300 mg/day propylthiouracil (PTU) for hyperthyroidism due to Graves' disease. A large goiter (maximum diameter, 60 mm) was detected magnetic resonance imaging (MRI) at 36 weeks gestation. Initial blood sampling revealed with serum thyroid-stimulating hormone (TSH) 99 μIU/mL, free triiodothyronine (T3) 1.97 pg/mL, and thyroxine (T4) 0.29 ng/dL. Consequently, diagnosis transplacental...
Male hypogonadotropic hypogonadism (MHH), a disorder associated with infertility, is treated testosterone replacement therapy (TRT) and/or gonadotropins (GRT) (TRT and GRT, together HRT hormone therapy). In Japan, guidelines have been set for treatment during adolescence. Due to the risk of rapid maturation bone age, low doses or used. However, optimal timing methods therapeutic intervention not yet established. The objective this study was investigate current situation children MHH in Japan...
We performed genetic analysis and clinical investigations for three patients with suspected monocarboxylate transporter 8 (MCT8) deficiency. On of the MCT8(SLC16A2) gene, novel mutations (c.1333C>A; p.R445S, c.587G>A; p.G196E c.1063_1064insCTACC; p.R355PfsX64) were identified in each patients. Although thyroid function tests (TFTs) showed typical pattern MCT8 deficiency at time diagnosis all patients, two occasionally euthyroid. A TRH test revealed low response, exaggerated response normal...
The pituitary-specific transcription factor 1 plays a key role in the development and differentiation of three pituitary cell types: somatotrophs, lactotrophs, thyrotrophs. Several mutations human gene (called POU1F1) have been shown to be responsible for phenotype combined hormone deficiency involving GH, prolactin (PRL), TSH.We identified novel homozygous C G mutation exon 4 POU1F1 (S179R) patient with this rare phenotype. We analyzed functional consequences S179R associated single-amino...
We carried out screening for mutations in the GH-1 gene 29 sporadic Japanese subjects with severe Isolated Growth Hormone Deficiency (IGHD) by dideoxy fingerprinting (ddF). Three of (- 10%) were heterozygous each following including: 1) an G→A transition third codon signal peptide exon 1 resulting a Threonine to Alanine substitution, 2) first base donor splice site IVS 3 (+1G→A) and 3) 183rd mature 5 Arginine Histidine substitution. One three was both 2). The (+1G→A)mutation has been...
Essential amino acids (EAAs) are those that cannot be synthesized enough to meet organismal demand; therefore, it is believed they must taken from the diet for optimal growth. The growth hormone (GH)/insulin-like factor-I (IGF-I) system also considered significant regulation in mammals. This study aimed evaluate relative contributions of protein nutrition and GH/IGF-I body regulation. Experiments using rodents hepatocyte-derived cell lines subjected EAA deficiency showed a reduction serum...
The patient is a 52-year-old man referred with an episode of loss consciousness. His medical history showed similar 30 years ago, bloody cerebrospinal fluid. However, the etiology subarachnoid hemorrhage was not then established. He had been in good health until he experienced consciousness August, 1980. Neurological and physical examinations were normal. Contrast-enhanced computerized tomography demonstrated irregular linear density right anterior cranial base. Angiography revealed...
Fetal goiter is only rarely observed in pregnant women without autoimmune thyroid disorders, and there no epidemiological data on its pathophysiology. Dual oxidase maturation factor 2 (DUOXA2), together with dual 2, serves pivotal roles hormone biosynthesis. To date, all reported patients DUOXA2 mutations were diagnosed postnatally through newborn screening for congenital hypothyroidism.The mother of a male fetus presented at 33 + 4 gestational weeks (GW) fetal polyhydramnios. Cordocentesis...
A 65-year-old female developed peduncular hallucinosis 3 days after rupture of a basilar-superior cerebellar artery aneurysm. There were no neurological deficits except slight anisocoria when she first complained hallucinations. Vasospasm the perforating arteries to upper brainstem, rather than direct brainstem damage caused by bleeding, was probably cause. Peduncular is possibly only localizing sign ruptured posterior circulation
Abstract Background: Glucagon‐like peptide‐2 (GLP‐2) arises from proglucagon within enteroendocrine L cells of the small and large intestines, its physiological roles have been gradually elucidated. However, circulating GLP‐2 levels in human neonates are still unknown. The aim present study was to measure serum extremely low‐birthweight (ELBW) infants normal‐term infants, compare these values between two groups. Methods: Blood samples were collected concentrations measured, 15 ELBW at three...
Pseudohypoaldosteronism type 1 (PHA1) is a rare disease characterized by congenital resistance to the action of aldosterone on epithelial tissue; PHA1 results in excessive salt wasting despite very high plasma and renin levels (1,2,3). There are 3 types PHA1. The systemic form inherited an autosomal recessive manner manifests as severe life-long caused mineralocorticoid multiple target tissues (e.g., sweat glands, salivary colonic epithelium, lung). renal (adPHA1) dominant manner. In this...
It is sometimes difficult to confirm the location of a microadenoma in Cushing disease. Recently, we experienced an 11-yr-old female case disease with hyperprolactinemia. She was referred our hospital because decrease height velocity body weight gain. On admission, she had typical symptoms syndrome. Although no pituitary microadenomas were detected on 1.5 Tesla MRI brain, endocrinological examinations including IPS and CS sampling consistent Oral administration methyrapone instead...
Herein is described the cases of three children with central nervous system (CNS) tumor, who had switch in handedness occurring before diagnostic confirmation. Although onset, age, tumor location, and histology were heterogeneous, diagnosis CNS was delayed all patients. The present experience indicates that should be recognized as a sign pediatric patients, which might prevent delay diagnosis. Pediatricians carefully examine such patients some suggestive symptoms even when they are unusual,...
Allgrove syndrome, also known as triple A syndrome (OMIM #231550), is a rare autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone (ACTH)-resistant adrenal insufficiency, achalasia and alacrima. It caused mutations AAAS gene, which located on chromosome 12q13, encoding WD-repeat protein ALADIN (alacrima-achalasia-adrenal insufficiency neurologic disorder) (1). Herein, we present case two-year-old girl with genetically confirmed diagnosis resulting from novel...
Adequate dietary intake of amino acids is imperative for normal animal growth. Our previous work using rat hepatocarcinoma Fao cells demonstrated that growth hormone (GH) resistance, coupled with a concurrent reduction in insulin-like factor 1 (Igf1) mRNA levels, may underlie the retardation associated low-protein diet (LPD). In this study, we investigated whether FGF21 contributes to liver GH resistance hepatoma under acid deprivation conditions. Mice subjected an LPD exhibited retardation,...
We experienced a case of familial hypoparathyroidism with an autosomal dominant pattern transmission and performed molecular analysis the calcium-sensing receptor (CASR) gene. The patient was female neonate, born by cesarean section at term because breech presentation. Her mother had been diagnosed idiopathic age 9 yr receiving vitamin D treatment since then. At birth, patient's serum calcium concentration 8.4 mg/dl, but it fell to 4.0 mg/dl on fifth day after birth. Furthermore, her intact...