Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene.

X-linkded Ohdo syndrome is characterized mainly by intellectual disability, delays in reaching development, feeding difficulties, thyroid dysfunction, and dysmorphic appearance with blepharophimosis, immobile mask-like face and bulbous nose. The X-linked Ohdo syndrome is caused by loss of function mutation in MED12 gene on X chromosome. The peripheral blood mononuclear cells from a patient carrying missense mutation of the MED12 gene were reprogrammed using the CytoTune-iPS2.

History of pain around the lumbopelvic region during perinatal period: a prospective cohort study.

Purpose: Many women experience pain around the low back and pelvic girdle during/after pregnancy. These pains have different risk factors and require independent management strategies. Therefore, an epidemiological database is required to understand when each type of pain occurs, and how serious it could be.

Factors influencing the continuation of home blood pressure measurement in community-dwelling older adults: the NOSE study.

Objective: This study aimed to identify the factors influencing home blood pressure measurement (HBPM) continuation in community-dwelling older adults.

Methods: A longitudinal analysis used the NOSE study intervention group datasets. The participants were encouraged HBPM with self-monitoring devices provided to them twice in the morning and twice in the evening.

Establishment of human induced pluripotent stem cell lines, KMUGMCi006, from a patient with Tuberous sclerosis complex (TSC) bearing mosaic nonsense mutations in the Tuberous sclerosis complex 2 (TSC2) gene.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by neuropsychiatric symptoms and multiple dysplastic organ lesions, caused by loss of function mutations in either TSC1 or TSC2. The peripheral blood mononuclear cells (PBMCs) from a patient carrying mosaic nonsense mutation of TSC2 gene were reprogrammed using the CytoTune-iPS2.0 Sendai Reprogramming Kit.

Ultrasound Assessment of Abdominal Muscle Thickness With and Without Lumbopelvic Pain in Pregnant Women.

Objectives: Lumbopelvic pain (LPP) is a very common cause of discomfort during pregnancy, but its etiology remains unclear. The association between abdominal muscle thickness and LPP in pregnant women has not been studied extensively, despite the significant abdominal changes that occur during pregnancy. This study aimed to examine the relationship between abdominal muscle thickness and LPP in pregnant women.

Establishment of a human induced pluripotent stem cell line, KMUGMCi007-A, from a patient with prolidase deficiency (PD) bearing homozygous in-frame mutation in the PEPD gene.

Prolidase deficiency (PD) is a rare autosomal recessive disorder characterized mainly by skin lesions of the legs and feet, respiratory infections and mental retardation, and impaired immune system. To date, no effective PD treatment has been developed. The PD case are caused by homozygous mutation in PEPD gene.

Functional diversity and plasticity in the sugar preferences of Saccharomyces MALT transporters in domesticated yeasts.

Maltose and maltotriose, together with glucose, are the major carbohydrates found in malts. Thus, brewing yeasts grown in malt-based brewing processes with serial re-pitching have likely increased their ability to uptake these sugars during domestication by modulating the expression and copy number of maltose transporter genes (MALT, also known as Malx1). However, the molecular basis for and structural insights into the sugar preferences of MALT proteins remain to be elucidated.

Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by multiple dysplastic organ lesions and neuropsychiatric symptoms, caused by loss of function mutations in either or . Genotype and phenotype analyses are conducted worldwide, but there have been few large-scale studies on Japanese patients, and there are still many unclear points. This study analyzed 283 Japanese patients with TSC (225 definite, 53 possible, and 5 genetic diagnoses).

Establishment of a human induced pluripotent stem cell line, KMUGMCi005-A, from a patient with Epidermodysplasia verruciformis (EV) bearing homozygous splicing donor site mutation in the TMC8 gene.

Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human beta papillomaviruses and a high rate of progression to squamous cell carcinoma on sun-exposed skin. The majority of EV cases are caused by homozygous mutation in TMC8. The peripheral blood mononuclear cells from a patient carrying homozygous mutation of the TMC8 gene were reprogrammed using the CytoTune-iPS2.

Establishment of a human induced pluripotent stem cell line, KMUGMCi003-A, from a patient with trichothiodystrophy 1 (TTD1) bearing compound heterozygous missense mutations in the ERCC2 gene.

Trichothiodystrophy 1 (TTD1) is a rare, autosomal recessive, multisystem disorder characterized by the sulfur-deficient brittle hair, cutaneous photosensitivity, high risk of skin cancer, psychomotor retardation. TTD1 is caused by homozygous or compound heterozygous mutation in ERCC2 gene. The peripheral blood mononuclear cells (PBMCs) from a patient carrying two heterozygous missense mutations of the ERCC2 gene were reprogrammed using the CytoTune-iPS2.

[Effect of Iki-Iki Hyakusai Taiso on the prevention of progression of frailty in Nose Town, Osaka Prefecture].

Aim: We examined the effect of "IkiIki Hyakusai Taiso" as way to prevent the physical decline in community-dwelling elderly in Nose Town, Osaka Prefecture.

Methods: Participants were community-dwelling elderly who participated in the Preventive Care program "IkiIki Hyakusai Taiso" from October 2015 to June 2019 in Nose Town, Osaka Prefecture, Japan. They performed exercises once a week.

Potent priming by inactivated whole influenza virus particle vaccines is linked to viral RNA uptake into antigen presenting cells.

Current detergent or ether-disrupted split vaccines (SVs) for influenza do not always induce adequate immune responses, especially in young children. This contrasts with the whole virus particle vaccines (WPVs) originally used against influenza that were immunogenic in both adults and children but were replaced by SV in the 1970s due to concerns with reactogenicity. In this study, we re-evaluated the immunogenicity of WPV and SV, prepared from the same batch of purified influenza virus, in cynomolgus macaques and confirmed that WPV is superior to SV in priming potency.

Epigenetic regulation of the epithelial mesenchymal transition induced by synergistic action of TNF-α and TGF-β in retinal pigment epithelial cells.

To clarify the influence of tumor necrosis factor (TNF)-α on fibrotic phenotypes induced by transforming growth factor (TGF)-β in retinal pigment epithelial cells (RPECs) by epigenetic regulation. Human primary retinal pigment epithelial cells (RPECs including ARPE19) were used in cultures in the presence or absence of TNF-α and/or TGF-β2. RT2 Profiler™ (Qiagen) was used for PCR Array for fibrosis and epithelial mesenchymal transition (EMT).

Effect of a Specific Questionnaire Sheet on Subclassification of Osteonecrosis of the Femoral Head.

BACKGROUND This study examined whether use of a specific questionnaire sheet for nontraumatic osteonecrosis of the femoral head (ONFH) could affect the subclassification of ONFH compared with a conventional medical interview. MATERIAL AND METHODS Study participants consisted of 400 patients with ONFH who visited our hospital between February 2011 and March 2015. Data on history of systemic steroid therapy and habitual alcohol intake were obtained during a conventional medical interview at the first visit and were re-evaluated using a specific questionnaire sheet at another visit.

Life science database cross search: A single window system for dispersed biological databases.

A comprehensive search system for the bioscience databases is in progress. We constructed a search service, Life science database cross search system (https://biosciencedbc.jp/dbsearch/index.

[A case of bullous systemic lupus erythematosus with sloughing esophagitis].

A 57-year-old female presented with a chief complaint of odynophagia during medical treatment for systemic lupus erythematosus (SLE). Endoscopy revealed sloughed mucosa along the entire esophageal length, and normal mucosa was easily stripped by withdrawal of the biopsy forceps. Blistering eruptions subsequently appeared on her upper extremities, trunk, and oral cavity.

Effects of 12-month exercise intervention on physical and cognitive functions of nursing home residents requiring long-term care: a non-randomised pilot study.

Aims: We performed a 12-month exercise intervention for 'nursing home for the elderly' residents requiring long-term care. We evaluated changes in their muscular strength, muscle mass, and cognitive function.

Methods: Thirty-seven nursing home residents (Mini-Mental State Examination (MMSE): 14.

Pelvic alignment changes during the perinatal period.

Background: The function of the pelvic bones is to transfer load generated by body weight. Proper function of the pelvic bones can be disturbed by alignment changes that occur during pregnancy. Further, misalignment of the pelvic bones can lead to pain, urinary incontinence, and other complications.

Quantitative evaluation of bone-resorptive lesion volume in osteonecrosis of the femoral head using micro-computed tomography.

Objectives To quantify the volume of bone-resorptive lesions in post-collapse osteonecrosis of the femoral head (ONFH) using micro-computed tomography (micro-CT) and assess their characteristics in post-collapse ONFH. Methods We investigated 35 femoral heads resected from 35 patients with ONFH (20 men and 15 women; mean age, 47.2 years).

The effects of pelvic belt use on pelvic alignment during and after pregnancy: a prospective longitudinal cohort study.

Background: Pelvic alignment changes during pregnancy and post-childbirth. Pelvic belts exert external forces that compress and stabilize the joints, and therefore, could influence pelvic alignment. However, limited information is available regarding this potential effect.