Clinical Factors Associated With the Outcomes of Long-Term Middle Ear Ventilation Tube Insertion in Pediatric Patients.

Background: Ventilation tube (VT) insertion is the most common treatment for otitis media with effusion (OME). However, OME recurrence and persistent tympanic membrane (TM) perforation after VT removal are encountered in a certain percentage of such children.

Methods: This study was performed to determine the outcomes of children who underwent long-term VT insertion.

Prevalence and clinical features of hearing loss caused by EYA4 variants.

Variants in the EYA4 gene are known to lead to autosomal dominant non-syndromic hereditary hearing loss, DFNA10. To date, 30 variants have been shown to be responsible for hearing loss in a diverse set of nationalities. To better understand the clinical characteristics and prevalence of DFNA10, we performed genetic screening for EYA4 mutations in a large cohort of Japanese hearing loss patients.

Comprehensive analysis of syndromic hearing loss patients in Japan.

More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing panel (36 target genes). We analyzed single nucleotide variants, small insertions, deletions and copy number variations in the target genes.

Frequency and clinical features of hearing loss caused by STRC deletions.

Sensorineural hearing loss is a common deficit and mainly occurs due to genetic factors. Recently, copy number variants (CNVs) in the STRC gene have also been recognized as a major cause of genetic hearing loss. We investigated the frequency of STRC deletions in the Japanese population and the characteristics of associated hearing loss.

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.

A heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsyndromic hereditary hearing loss, DFNA6/14/38, or Wolfram-like syndrome. To date, more than 40 different mutations have been reported to be responsible for DFNA6/14/38. In the present study, WFS1 variants were screened in a large series of Japanese hearing loss (HL) patients to clarify the prevalence and clinical characteristics of DFNA6/14/38 and Wolfram-like syndrome.

Endoscopic Modified Medial Maxillectomy for Fungal Ball of the Hypoplastic Maxillary Sinus With Bony Hypertrophy.

Sinus fungal ball is defined as noninvasive chronic rhino-sinusitis with a clump of mold in the paranasal sinuses, typically affecting the maxillary sinus. Fairly good outcomes of endoscopic surgery have been reported where the ball is removed through the antrostomy. However, the affected sinus tends to have a smaller cavity and thicker bony walls.

[Compliance and problems with the surveillance program for HCC diagnosis].

We conducted a multicenter retrospective study for evaluating the background of and diagnostic opportunity for 651 patients with primary hepatocellular carcinoma (HCC). The etiologies were hepatitis B virus (HBV) in 20.0% of patients, hepatitis C virus (HCV) in 36.

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.

A variant in a transcription factor gene, POU4F3, is responsible for autosomal dominant nonsyndromic hereditary hearing loss, DFNA15. To date, 14 variants, including a whole deletion of POU4F3, have been reported to cause HL in various ethnic groups. In the present study, genetic screening for POU4F3 variants was carried out for a large series of Japanese hearing loss (HL) patients to clarify the prevalence and clinical characteristics of DFNA15 in the Japanese population.

Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan.

The Growject® database on human GH treatment in Turner syndrome was analyzed in the Turner Syndrome Research Collaboration, and the relationships of the frequencies of spontaneous breast development and spontaneous menarche with karyotype and GH treatment were investigated. One hundred and three cases started GH treatment with 0.5 IU/kg/ week (0.

Expression of anti-Müllerian hormone and its type II receptor in germ cells of maturing rat testis.

This work aimed to clarify the expression and roles of anti-Müllerian hormone (AMH) and its type 2 receptor (AMHR2) in seminiferous tubules of maturing rat testes. By quantitative RT-PCR, we determined the relative expressions of Amh, Amhr2, Scp1, Rsbn1, Ngfr, and Rhox5 in rat testes aged 5-49 days (d), and in germ cells and Sertoli cells isolated from 21d testes. Smad 1,5 and 8 expressions were also determined in 21d testes and isolated germ cells.

Rat stem-cell leukemia gene expression increased during testis maturation.

We found that stem-cell leukemia (SCL), also known as T cell acute-lymphocytic leukemia (Tal-1) gene expression, was upregulated in the maturing rat testis. Strong expression of Tal-1 was detected in the normal maturing rat testis by Northern blotting. Western blotting revealed the protein size to be about 34 kDa.

Expression of a novel sphingosine 1-phosphate receptor motif protein gene in maturing rat testes.

We screened a novel sphingosine 1-phosphate receptor type 5 motif-containing gene, LOC290876, from maturing rat testes by differential display. Gene expression was testis-specific, increased at week 7, and continued for 15 weeks. PCR analysis clarified two gene transcript isoforms, which were expressed at the same level in all samples detected in Northern blot.

Regulation of rat tetratricopeptide repeat domain 29 gene expression by follicle-stimulating hormone.

We screened the gene that encodes tetratricopeptide repeat domain 29 (Ttc29) in the maturing rat testis. Gene expression was determined by Northern blotting of 7-week-old rat testes, and a strong signal was detected close to the 18S rRNA band in addition to two weak high-molecular-weight signals. In situ hybridization revealed that Ttc29 was expressed primarily in the spermatocytes.

Favorable impact of growth hormone treatment on cholesterol levels in turner syndrome.

Background: Patients with Turner syndrome (TS) are prone to having metabolic abnormalities, such as obesity, dyslipidemia, hypertension, hyperinsulinemia and type 2 diabetes mellitus, resulting in increased risks of developing atherosclerotic diseases.

Objective: To determine the effect of growth hormone (GH) therapy on serum cholesterol levels in prepubertal girls with TS enrolled in the Turner syndrome Research Collaboration (TRC) in Japan.

Patients And Methods: Eighty-one girls with TS were enrolled in the TRC, and their total cholesterol (TC) levels before GH therapy were compared with reported levels of healthy school-aged Japanese girls.

Assessment of the ablated area after radiofrequency ablation by the spread of bubbles: comparison with virtual sonography with magnetic navigation.

Background/aims: The purpose of this study was to investigate whether bubble images after radiofrequency ablation (RFA) can predict the ablated area.

Methodology: The spread of bubbles 5 minutes after RFA were compared with the unenhanced area of virtual sonography with magnetic navigation in two RFA methods: expandable needle and cool-tip needle.

Results: Thirty-one hepatocellular carcinoma nodules were treated by RFA with either an expandable needle or cool-tip needle (n=14 and n=17, respectively) and examined.

Role of counterregulatory hormones for glucose metabolism in children and adolescents with type 1 diabetes.

To elucidate the mechanism of insulin resistance due to insulin counterregulatory hormones (ICRHs) and evaluate ICRH secretion kinetics, ICRH concentrations were measured and correlated with blood glucose levels in 28 type 1 diabetic patients. Blood glucose was measured before bedtime. Early morning urine samples were collected the next morning before insulin injection and breakfast.

Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants.

Context: Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder characterized by gynecomastia. Although cryptic inversions leading to abnormal fusions between CYP19A1 encoding aromatase and its neighboring genes have been identified in a few patients, the molecular basis remains largely unknown.

Objective: The objective of the study was to examine the genetic causes and phenotypic determinants in AEXS.

Binax NOW® Streptococcus pneumoniae test of middle ear fluid for detecting causative pathogens in children with acute otitis media.

We investigated rapid diagnosis of acute otitis media, (AOM) with the Binax NOW® Streptococcus pneumoniae test kit. Middle ear fluid specimens were obtained from 38 children with AOM (mean age: 1.1 years).

Expression of the centrosomal colon cancer autoantigen gene during spermatogenesis in the maturing rat testis.

We analyzed the gene and protein expression of serologically defined colon cancer antigen 8. Gene expression was upregulated in the maturing rat testis, and was localized to the spermatocytes. Protein was detected in the spermatids and at the sites of mRNA expression.

A case report of dysosteosclerosis observed from the prenatal period.

Dysosteosclerosis is a sclerosing bone dysplasia with skeletal changes resembling those of osteopetrosis. The disorder is associated with dental anomalies and occasionally mental retardation. Because of the rarity and phenotypic diversity of dysosteosclerosis, it remains unsolved whether or not the disorder is heterogeneous.

Late-onset circulatory dysfunction after thyroid hormone treatment in an extremely low birth weight infant.

Late-onset circulatory dysfunction (LCD) is a phenomenon specific to premature infants and is characterized by sudden onset of hyponatremia, hypotension, oliguria and non-physiological weight gain, without an obvious cause, in premature infants after stabilization of circulation and respiration. The cause of LCD is not clear, but adrenal insufficiency in premature infants is a severe syndrome because steroid replacement therapy is often essential to treat the symptoms. We report a rare case of a premature infant who developed an LCD crisis the day after thyroxine replacement therapy.

Assessment of the ablated area after radiofrequency ablation by contrast-enhanced sonography; comparison with virtual sonography with magnetic navigation.

This study investigated whether contrast-enhanced sonography can accurately predict the ablated area by radiofrequency ablation using virtual sonography by computed tomography as a gold standard. Thirty-one hepatocellular carcinoma nodules were treated by radiofrequency ablation and then examined. The defect of contrast-enhanced sonography (puncture direction: r=.

Expression of stanniocalcin-1 in gastrointestinal tracts of neonatal and mature rats.

Stanniocalcin-1 (STC-1) produced by ovaries endocrinologically targets to mammary glands and is secreted into milk during lactation. The decline of mother's serum level by STC-1 antiserum administration reduced the milk fat content and the pups' body fat content. Nevertheless, the pups' fecal fat content was increased, suggesting that milk-derived STC-1 could influence intestinal fat absorption.

Exposure to exogenous estrogen through intake of commercial milk produced from pregnant cows.

Background: Modern genetically improved dairy cows continue to lactate throughout almost the entire pregnancy. Therefore, recent commercial cow's milk contains large amounts of estrogens and progesterone. With regard to the exposure of prepubertal children to exogenous estrogens, the authors are particularly concerned about commercial milk produced from pregnant cows.