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Biomedical subjects

Hiroshi Mochizuki

Publications and source records attributed to Hiroshi Mochizuki.

12 recordsLinked to original sources
PubMed2006

Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome.

Deletions or mutations in the gene encoding the basolateral chloride channel CLC-Kb (CLCNKB) cause classic Bartter syndrome (MIM 602023), which is characterized by hypokalemic metabolic alkalosis, hyperreninemic hyperaldosteronism and hypercalciura. These patients are usually diagnosed during infancy or childhood due to failure to thrive and growth retardation. The purpose of this study was to investigate the underlying mutations in Japanese patients with classic Bartter syndrome. Seven Japanese patients from seven different families diagnosed as having classic Bartter syndrome were studied. Analysis of CLCNKB demonstrated a large deletion in two patients, a partial deletion in one patient and two mutations (DeltaL130 in exon 4 and W610X in exon 16) in the remaining four patients. DeltaL130 is a novel mutation, but W610X was previously reported in three unrelated Japanese patients. Six out of the seven patients were diagnosed due to typical characteristics of classic Bartter syndrome such as failure to thrive and poor weight gain however, one patient was asymptomatic with mild hypokalemia. In conclusion, we identified a novel mutation of the CLCNKB gene, DeltaL130. We did not determine whether the W610X mutation in our patients was from a common ancestor or if this mutation is frequent in Japan.

Asian People↗
PubMed2006

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.

Cartilage-hair hypoplasia (CHH), or metaphyseal dysplasia, McKusick type, is an autosomal recessive disease with diverse clinical manifestations. CHH is caused by mutations in RMRP (ribonuclease mitochondrial RNA processing), the gene encoding the RNA component of the ribonucleoprotein complex RNase MRP. A common founder mutation, 70A>G has been reported in the Finnish and Amish populations. We screened 11 Japanese patients with CHH for RMRP mutations and identified mutations in five probands, including three novel mutations (16-bp dup at +1, 168G>A, and 217C>T). All patients were compound heterozygotes for an insertion or duplication in the promoter or 5'-transcribed regions and a point mutation in the transcribed region. Two recurrent mutations were unique to the Japanese population: a 17-bp duplication at +3 and 218A>G. Haplotype analysis revealed that the two mutations common in Japanese individuals were contained within distinct haplotypes. Through this analysis, we have identified a unique mutation spectrum and founder mutations in the Japanese population.

Adolescent↗
PubMed2006

Phospholipids and their degrading enzyme in the tears of soft contact lens wearers.

PURPOSE: Low tear phospholipids levels are associated with tear film instability in soft contact lens wearers. We assayed levels of phospholipids and their degrading enzyme secretory phospholipase A2 (sPLA2) both in tears and deposited on contact lenses composed of 2 hydrophilic materials after 1 day of routine use. METHODS: Polymacon (Medalist; FDA group 1, low water/nonionic) and Etafilcon A (One Day Acuvue; group 4, high water/ionic) contact lenses were worn for 12 hours by 16 experienced contact lens wearers. Phospholipids in tear fluids and deposited on contact lenses were estimated by phosphorus determination with ammonium molybdate through enzymatic digestion. Double-antibody sandwich ELISA was used to determine group IIa sPLA2 concentrations, and sPLA2 activity was assayed using 1,2-diheptanoyl thio-phosphatidylcholine as substrate. RESULTS: Phospholipids concentrations in tears with Polymacon and Etafilcon A were 186 +/- 39 and 162 +/- 33 microg/mL, respectively. The latter concentration was significantly lower than that observed in the same subjects when not wearing contact lenses (P = 0.0023). In tears, both group IIa sPLA2 concentrations and enzymatic activity remained unchanged, regardless of lens wearing. However, Etafilcon A (0.57 +/- 0.09 microg/lens) showed more group IIa sPLA2 deposition than Polymacon (0.01 +/- 0.01 microg/lens; P < 0.001). Furthermore, group IIa sPLA2 deposited on Etafilcon A but not on Polymacon lenses retained its enzymatic activity. CONCLUSION: Significant differences of group IIa sPLA2 deposition were found in the 2 lenses tested. Such deposition might induce phospholipid hydrolysis in tears and thereby promote tear film instability in hydrophilic contact lens wearers.

Adult↗
PubMed2006

Corneal penetration of simultaneously applied topical levofloxacin, norfloxacin and lomefloxacin in human eyes.

PURPOSE: This study was performed to assess the corneal penetration of three topically applied fluoroquinolones (levofloxacin, norfloxacin and lomefloxacin) in corneal buttons obtained from patients undergoing penetrating keratoplasty. METHODS: Fourteen patients received three drops each of 0.5% levofloxacin, 0.3% norfloxacin and 0.3% lomefloxacin (the standard clinically available preparations) over a 30-min interval beginning 90 mins before their scheduled keratoplasty. Corneal samples obtained from excised buttons at the time of surgery were stored at - 80 degrees until analysis. The concentration of the administered fluoroquinolones was measured using high-performance liquid chromatography. RESULTS: The mean corneal concentration of levofloxacin (4.6 +/- 3.5 microg/g, mean +/- standard deviation) was significantly higher than that of lomefloxacin (2.7 +/- 1.8 microg/g, p = 0.0018) and norfloxacin (1.3 +/- 1.2 microg/g, p = 0.00012). CONCLUSION: Levofloxacin achieves a higher mean corneal concentration than norfloxacin and lomefloxacin in the human cornea.

Administration, Topical↗
PubMed2004

[Early detection of brain damages in status epilepticus using apparent diffusion coefficient mapping].

We report two patients of status epilepticus, in which detailed brain magnetic resonance image (MRI) studies were performed. In one patient apparent diffusion coefficient (ADC) increased in the right temporopareital regions in the acute phase. This patient finally has good clinical course without neurological deficits, and abnormal findings on MRI also disappeared. In another patient ADC increased in the similar regions in the acute phase, and an MRI demonstrated cortical laminar necrosis on T1-weighted scans in the same regions in the posticteric phase about 3 months later. The patient had a poorer prognosis with moderate dementia. It has been demonstrated that increased ADC reflects extracellular edema, while decreased ADC indicates cytotoxic edema. ADC mapping appears to be useful for predicting the reversibility of brain damages due to status epilepticus.

Brain Damage, Chronic↗
PubMed2003

Aqueous humor levels of topically applied levofloxacin, norfloxacin, and lomefloxacin in the same human eyes.

PURPOSE: To assess the relative penetration of topical eyedrops of 3 fluoroquinolones into the aqueous humor in human eyes. SETTING: Department of Ophthalmology, Sano-Kosei Hospital, Sano, Japan. METHODS: Fifty-nine cataract patients (36 women, 23 men) received 3 drops each of levofloxacin 0.5%, norfloxacin 0.3%, and lomefloxacin 0.3% in the same eye at 15-minute intervals beginning 90 minutes before cataract surgery. At the beginning of surgery, 50 microL of aqueous humor was aspirated from the anterior chamber and stored at -80 degrees C until analyzed. The drug concentrations in the samples were analyzed using high-performance liquid chromatography. RESULTS: Five patients were excluded from the study because their sample volumes were insufficient. Norfloxacin was detected in 3 patients; the mean aqueous humor level was 0.10 microg/mL +/- 0.02 (SD). Levofloxacin was detected in all cases; the mean aqueous humor level was 0.60 +/- 0.28 microg/mL (n = 54). Lomefloxacin was not detected in 10 patients; the mean aqueous humor level was 0.23 +/- 0.11 microg/mL (n = 44). CONCLUSION: Topically applied levofloxacin had better penetration into the aqueous humor than lomefloxacin and norfloxacin.

Aged↗
PubMed2002

Topical diclofenac sodium decreases the substance P content of tears.

OBJECTIVE: To explore the mechanism by which diclofenac sodium eyedrops exert an adverse effect on the cornea. METHODS: In 10 healthy Japanese volunteers, 0.1% diclofenac sodium solution was instilled into one eye 3 times daily for 2 weeks. Only vehicle was applied to the other eye. Tear samples were taken before drug treatment, at 2 weeks (on the final day of treatment), and at 4 weeks. Prostaglandin E(2) and substance P concentrations in tears were measured using enzyme immunoassays. RESULTS: After treatment for 2 weeks, concentrations of both prostaglandin E(2) and substance P in tears from diclofenac sodium-treated eyes had decreased significantly, and both had returned to baseline levels by 4 weeks. No significant changes were seen in prostaglandin E(2) and substance P levels in vehicle-treated eyes at any time points. CONCLUSIONS: Diclofenac sodium eyedrops concurrently reduced concentrations of prostaglandin E(2) and substance P in tears. Depletion of substance P (a pain-associated neurotransmitter) by diclofenac sodium may promote development of corneal complications.

Administration, Topical↗
PubMed2002

Aqueous humor levels of topically applied levofloxacin in human eyes.

PURPOSE: To evaluate transcorneal penetration of topically applied 0.5% levofloxacin into the aqueous humor in human eyes. METHODS: Twenty cataract patients (14 females, 6 males) received 3 drops of 0.5% levofloxacin at 15 min intervals from 90 minutes before the surgery. At the beginning of the cataract surgery, 50 microL of aqueous humor was aspirated from the anterior chamber and stored at -80 degrees C until analysis. The drug concentration of the samples was analyzed using high-performance liquid chromatography. RESULTS: A mean aqueous humor level of levofloxacin was 1.00 +/- 0.48 microg/mL (mean +/- standard deviation, n = 20), ranging from 0.30 microg/mL to 2.32 microg/mL. CONCLUSIONS: The mean concentration of levofloxacin in the aqueous humor was higher than the MIC(90) values against some common pathogens of postoperative endophthalmitis, although a great degree of interpatient variability was present.

Administration, Topical↗