Genotype-Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects.

Context: Thyroglobulin (Tg), encoded by TG, is essential for thyroid hormone synthesis. TG defects result in congenital hypothyroidism (CH). Most reported patients were born before the introduction of newborn screening (NBS).

Pathogenic variants of the gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families.

Pseudohypoparathyroidism 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are caused by loss-of-function variants of , which encodes Gsα. We present two unrelated Japanese families with PHP1A and PPHP harboring unreported pathogenic variants of (c.1141delG, p.

Malignant Hypertension Complicated with Necrotizing Pancreatitis After Starting Treatment: A Case Report.

BACKGROUND Malignant hypertension (MHT), one of the severest forms of hypertension, can have deleterious effects on various organs, such as renal failure, retinopathy, and encephalopathy. These types of organ damage are common complications of MHT, but in several previous cases, damage to other organs, such as the gastrointestinal tract or pancreas, resulting from small vessel lesions, has also been reported, and these cases have had severe clinical outcomes and a poor prognosis. CASE REPORT A 32-year-old male patient with untreated hypertension of a 5-year duration presented with breathlessness and edema.

Archival bone marrow smears are useful in targeted next-generation sequencing for diagnosing myeloid neoplasms.

Gene abnormalities, including mutations and fusions, are important determinants in the molecular diagnosis of myeloid neoplasms. The use of bone marrow (BM) smears as a source of DNA and RNA for next-generation sequencing (NGS) enables molecular diagnosis to be done with small amounts of bone marrow and is especially useful for patients without stocked cells, DNA or RNA. The present study aimed to analyze the quality of DNA and RNA derived from smear samples and the utility of NGS for diagnosing myeloid neoplasms.

Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report.

Congenital generalized lipodystrophy type 4 (CGL4) is a rare disease caused by mutations in the gene polymerase I and transcript release factor (), the main symptoms of which are systemic reductions in adipose tissue and muscular dystrophy. The strategy of treating CGL4 is to improve the insulin resistance and hypertriglyceridemia that result from systemic reductions in adipose tissue. Metreleptin, a synthetic analog of human leptin, is effective against generalized lipodystrophies; however, there are no reports of the use of metreleptin in the treatment of CGL4.

Down-regulation of Na/H exchanger 1 by Toll-like receptor stimulation in macrophages.

The role of Na/H exchanger 1 (NHE1) in various cell types, including inflammatory cells, has been extensively studied. However, regulation of NHE1 protein level in activated inflammatory cells is yet to be characterized. In this study, we investigated whether Toll-like receptor (TLR) ligands can regulate NHE1 protein level in the mouse macrophage-like RAW 264 cell line.

Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia.

Objective: Serum amino-terminal propeptide of C-type natriuretic peptide (NT-proCNP) levels have been proposed as a biomarker of linear growth in healthy children. The usefulness of NT-proCNP in patients with achondroplasia (ACH)/hypochondroplasia (HCH) remains to be elucidated. The objective was to study whether serum NT-proCNP level is a good biomarker for growth in ACH/HCH and other patients of short stature.

Nickel ions selectively inhibit lipopolysaccharide-induced interleukin-6 production by decreasing its mRNA stability.

Nickel (Ni) ions easily elute from many alloys and elicit inflammation and allergies. Previous studies have shown that infections due to the implantation of medical devices cause inflammation and enhance the elution of Ni ions (Ni²⁺). However, cross-talk between infection- and Ni²⁺-induced signaling pathways has not yet been elucidated in detail.

Clinical Trial of Four Weeks of Combination Therapy with Low-dose Methimazole and a Cholesterol Absorption Inhibitor as the Initial Treatment for Childhood-onset Graves' Disease.

The initial treatment of childhood-onset Graves' disease is based on the result of clinical trials of adult-onset disease. The major adverse events associated with methimazole, the only medication approved for childhood-onset disease in Japan, are considered to depend on the dose, and the risk of adverse events is increased in patients requiring higher doses for initial treatment. The serum levels of thyroid hormones are partially dependent on the enterohepatic circulation, especially under thyrotoxicosis.

Change in the chemical composition of infalling gas forming a disk around a protostar.

IRAS 04368+2557 is a solar-type (low-mass) protostar embedded in a protostellar core (L1527) in the Taurus molecular cloud, which is only 140 parsecs away from Earth, making it the closest large star-forming region. The protostellar envelope has a flattened shape with a diameter of a thousand astronomical units (1 AU is the distance from Earth to the Sun), and is infalling and rotating. It also has a protostellar disk with a radius of 90 AU (ref.

Epitope mapping for monoclonal antibody reveals the activation mechanism for αVβ3 integrin.

Epitopes for a panel of anti-αVβ3 monoclonal antibodies (mAbs) were investigated to explore the activation mechanism of αVβ3 integrin. Experiments utilizing αV/αIIb domain-swapping chimeras revealed that among the nine mAbs tested, five recognized the ligand-binding β-propeller domain and four recognized the thigh domain, which is the upper leg of the αV chain. Interestingly, the four mAbs included function-blocking as well as non-functional mAbs, although they bound at a distance from the ligand-binding site.

Premature thelarche in later childhood demonstrates a pubertal response to GnRH stimulation test at one year after breast development.

Premature thelarche in later childhood (such as at 5-7 yr of age) is not always easy to distinguish from GnRH-dependent precocious puberty. In this study, a GnRH stimulation test was performed on 21 girls from 5 to 7.5 yr of age with early breast development.

Lifestyle and psychological factors related to irritable bowel syndrome in nursing and medical school students.

Background: Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder comprising abdominal pain, abdominal discomfort, and disordered defecation. The prevalence of IBS is 10-15% in the general population. This study investigated the prevalence of IBS and the relationship between IBS and stress, lifestyle, and dietary habits among nursing and medical school students.

Weak cation-exchange restricted-access material for on-line purification of basic drugs in plasma.

A methylcellulose-immobilized weak cation-exchange (MC-WCX) silica-based restricted-access material (RAM) was developed. The MC-WCX consists of an MC outer surface and 2-carboxyethyl phase internal surface, allowing for direct analysis of basic drugs in plasma. The retention properties of the MC-WCX were evaluated for sulpiride, quinidine, ranitidine, and desipramine.

Observations of chemical differentiation in clumpy molecular clouds.

We have extensively mapped a sample of dense molecular clouds (L1512, TMC-1C, L1262, Per7, L1389, L1251E) in lines of HC3N, CH3OH, SO and C18O. We demonstrate that a high degree of chemical differentiation is present in all of the observed clouds. We analyse the molecular maps for each cloud, demonstrating a systematic chemical differentiation across the sample, which we relate to the evolutionary state of the cloud.

Sensitive determination of aspirin and its metabolites in plasma by LC-UV using on-line solid-phase extraction with methylcellulose-immobilized anion-exchange restricted access media.

We describe a sensitive determination of aspirin (ASA) and its three metabolites (salicylic acid [SA], 2,3-dihydroxybenzoic acid [2,3-DHBA], and 2,5-dihydroxybenzoic acid [gentisic acid (GA)]) in rat plasma. Analysis was carried out by on-line solid-phase extraction (SPE) using a methylcellulose-immobilized-strong anion-exchanger (MC-SAX), followed by liquid chromatography (LC) coupled with UV detection. The lower limits of quantitation for ASA and SA were 60 ng/mL in 100 microL of plasma, respectively.

Deep Impact: observations from a worldwide Earth-based campaign.

On 4 July 2005, many observatories around the world and in space observed the collision of Deep Impact with comet 9P/Tempel 1 or its aftermath. This was an unprecedented coordinated observational campaign. These data show that (i) there was new material after impact that was compositionally different from that seen before impact; (ii) the ratio of dust mass to gas mass in the ejecta was much larger than before impact; (iii) the new activity did not last more than a few days, and by 9 July the comet's behavior was indistinguishable from its pre-impact behavior; and (iv) there were interesting transient phenomena that may be correlated with cratering physics.

The intestinal first-pass metabolism of substrates of CYP3A4 and P-glycoprotein-quantitative analysis based on information from the literature.

It is suggested that the bioavailability of CYP3A4 substrates might be low due to first-pass metabolism in the small intestine, and it is possible that P-glycoprotein (P-gp) may influence first-pass metabolism in a co-operative manner. We have collected information of the pharmacokinetics of CYP3A4 substrates to evaluate the fraction absorbed (Fa), intestinal availability (Fg) and hepatic availability (Fh) and have investigated the intestinal first-pass metabolism and the effect of P-gp on this. The pharmacokinetic data involved ten compounds metabolized by CYP3A4 in humans, with and without an inhibitor or inducer.

[Pharmacokinetic and clinical studies on teicoplanin for sepsis by methicillin-cephem resistant Staphylococcus aureus in the pediatric and neonate field].

Pharmacokinetics, clinical efficacy and safety of teicoplanin (TEIC) were evaluated in pediatric and neonate patients with MRSA sepsis in the dosages approved in overseas. The administrated dose for pediatrics patients was 10 mg/kg once at hour 0, 12 and 24, followed by every 24 hours intervals. In neonates patients, first dose was 16 mg/kg, then 8 mg/kg every 24 hours intervals.

A novel heterozygous T51I mutation of growth hormone receptor is not associated with short stature.

A novel missense mutation of the growth hormone receptor (GHR) gene was identified in a Japanese short boy with GH insensitivity. The analysis of the GHR gene revealed a novel heterozygous T51I mutation in exon 4. To clarify the effect of this mutation on GH signaling, the mutant GHR was expressed in CHO cells and its functional properties were investigated.

Light intensity distribution in the externally illuminated cylindrical photo-bioreactor and its application to hydrogen production by Rhodobacter capsulatus.

The light distribution in the externally illuminated cylindrical photo-bioreactor for production of hydrogen by a photosynthetic bacterium Rhodobacter capsulatus ST-410 was estimated. The estimation was performed on the basis of the Matsuura and Smith's diffuse model [1]. In the diffuse model, the incident light rays are assumed to proceed in every direction and the local intensity is calculated as the sum of the intensities of light.

Effects of Ethanolamine as a nitrogen source on hydrogen production by Rhodobacter capsulatus.

Ethanolamine was examined as a nitrogen source in the production of hydrogen by Rhodobacter capsulatus ST-410, a hydrogenase-deficient mutant of the strain B-100. It was found that ethanolamine supports cell growth as the sole nitrogen source and permits a large amount of hydrogen evolution, detected at 138 micromol/ml-culture from 3.5 mM ethanolamine and 30 mM DL-malate.

Plasma direct injection high-performance liquid chromatographic method for simultaneously determining E3810 enantiomers and their metabolites by using flavoprotein-conjugated column.

A high-performance liquid chromatographic method using the column-switching technique was developed for the simultaneous determination of E3810 and its metabolites (M1-M4). An avidin column was used for in-line pretreatment to exclude plasma proteins, allowing direct injection of a large volume of plasma. A flavoprotein-conjugated chiral stationary phase in a gradient elution mode then gave baseline separation of E3810 and the four metabolites.