Macular Dysfunction in Oguchi Disease with the Frequent Mutation 1147delA in the SAG Gene

Aim/Background: A 1-bp deletion (1147delA) in the SAG (also known as arrestin or S-antigen) gene is the most frequently seen mutation in Japanese patients suffering from Oguchi disease, a recessively inherited stationary night blindness. We investigated macular function in a patient with Oguchi disease with the 1147delA mutation. Methods: A 43-year-old Japanese male patient was diagnosed with Oguchi disease. The patient underwent complete ophthalmic examinations, including spectral-domain optical coherence tomography and Humphrey visual field testing. Full-field electroretinograms (ff-ERG) and multifocal ERG (mf-ERG) were recorded. Mutational analysis of the SAG gene was performed. Results: Corrected visual acuity was good in both eyes. Funduscopy showed retinal pigment epithelium atrophy along the vascular arcade bilaterally. The inner segment-outer segment (ISOS) boundary lines were preserved in the foveal and parafoveal areas, whereas ISOS boundary defects and thinning of the outer nuclear layer (ONL) were seen outside the preserved ISOS boundary. Humphrey testing showed significant paracentral field defects in both eyes. In addition to an absence of rod responses, cone and 30-Hz flicker responses were markedly reduced in ff-ERG. The central (ring 1) and paracentral (ring 2) responses with normal latencies were relatively preserved, but the outer waveforms (rings 3-5) were attenuated and prolonged in mf-ERG. The deletion mutation (1147delA) was identified homozygously. Conclusions: The reduced/delayed mf-ERG responses and visual field defects in paracentral macula areas are most likely to be correlated with ISOS boundary defects and thinning of the ONL. Macular dysfunction can occur in Oguchi disease with the 1147delA mutation in the SAG gene.     

Change in anterior chamber depth following combined pars plana vitrectomy,phacoemulsification, and intraocular lens implantation using different types of intraocular lenses

Purpose  

To examine whether the type of intraocular lens (IOL) used in combined pars plana vitrectomy, phacoemulsification, and IOL implantation affects the changes in anterior chamber depth over time.     

Early postoperative evaluation of retinal function by electroretinography after vitreous surgery for idiopathic epimacular membrane

Purpose

In this study, we used the PuREC to carry out electroretinography (ERG) measurements using skin electrodes to assess changes before and after microincision vitreous surgery (MIVS) for epiretinal membrane (ERM) and evaluate the stress on retinal function soon after MIVS.

Methods

The study subjects were 18 eyes of 18 patients who underwent MIVS for ERM simultaneously with cataract surgery. ERG measurements were performed using a skin electrode on the day before vitreous surgery, on the day after surgery, and 1 week later. The amplitude and implicit time of each waveform were measured, and the changes between preoperative results and those 1 day and 1 week postoperatively were investigated.

Results

Preoperatively, the dark-adapted (DA) 0.01 ERG, the DA 3.0 ERG a-wave amplitude, and the light-adapted (LA) 3.0 ERG b-wave amplitude were significantly smaller in affected eyes compared with their fellow eyes (P < 0.05, Wilcoxon’s signed-rank test). The day after surgery, all-wave amplitude showed no significant difference compared to preoperatively (repeated-measures analysis of variance (ANOVA) post hoc test). One week after surgery, the LA 3.0 ERG for b-waves and flicker ERG amplitude had improved from the value on the day after surgery (P < 0.05, ANOVA post hoc test).

Conclusions

Cone ERG components have improved within 1 week after surgery by MIVS for ERM.

     

Scleral corneal 1-plane incision cataract surgery

The scleral corneal 1-plane incision for cataract surgery technique uses a single knife to perforate the anterior chamber from the sclera via the cornea by making a corneal valve that is 1.0 to 1.5 mm long. The technique is easy and reproducible. Even if incisions are widened to 6.0 mm, they readily self-seal with little surgically induced corneal topographic changes. Because surgical manipulations through a short scleral tunnel are easy and intraoperative mishaps can be dealt with smoothly, this incision technique can be used by those with relatively little surgical experience.     

Bartonella infection associated with systemic juvenile rheumatoid arthritis.

A 4-year-old girl with systemic juvenile rheumatoid arthritis had Bartonella infection diagnosed serologically. This case suggested that Bartonella (most probably Bartonella henselae) infection may in part be responsible for the development of systemic juvenile rheumatoid arthritis.     

Comparison of the phospholipid classes in human milk in Japanese mothers of term and preterm infants

Background: Phospholipids (PLs) play an essential role in the growth and brain development of infants. Aim: To investigate PL composition in human milk (HM), including lysophosphatidylcholine, phosphatidylethanolamine, phosphatidylinositol, phosphatidylserine, phosphatidylcholine (PC) and sphingomyelin (SM), from healthy Japanese mothers. Analyses were performed on colostrum, transitional milk and mature milk from mothers of preterm and term infants. Methods: HM samples were collected from mothers of 15 term infants (term group) and of 19 preterm infants (preterm group). PL composition was determined by two-dimensional thin-layer chromatography in conjunction with phosphorus analysis. Results: In both groups, the PL content (% of total lipid) of mature milk was significantly lower than in colostrum. SM and PC were the main PLs in HM, but in the preterm group, the percentage of SM in mature milk was significantly higher and PC in mature milk was significantly lower than in the term group.

Conclusion: The transition from colostrum to mature milk leads to an increase in SM and a decrease in PC in the HM of preterm infants, along with a decrease in PL content. This is the first report to demonstrate the differences in PL composition in HM between mothers of preterm and term infants.     

Intraoperative radiation therapy for advanced neuroblastoma: the problem of securing the IORT field

The purpose of this study is to evaluate the efficacy of intraoperative radiation therapy (IORT) and the problem of securing the IORT field in advanced pediatric neuroblastoma. Between 1996 and 2005, 12 children received IORT for advanced pediatric neuroblastoma patients. Electron beam energies ranged from 10 to 12 MeV and median dose was 10 Gy (8-12 Gy). All of them had surgery with IORT against the primary tumor site and the abdominal aorta surroundings. A gross total resection (GTR) was achieved in 10 patients and subtotal resection (STR) was two patients. All of 12 patients were classified as high risk. Nine patients were alive 17-120 (mean 48 months) after diagnosis. Local tumor control was achieved in 100% of patients, of whom one experienced local recurrence outside the IORT field. At the operation, it was difficult to secure the IORT field because of the angle of the radiation cylinder in three patients. One of the three of these patients experienced local recurrence outside of the IORT field in the upper side of superior mesenteric artery and two of three patients had an external beam radiation after surgery, and there was no local recurrence. One patient had a postoperative ileus, and one patient had transient diarrhea and hydronephrosis. For advanced neuroblastoma patients, IORT produced excellent local control after surgery. However, there is a problem of securing the IORT field. For local control, it is necessary to add an external beam radiation after IORT when it is difficult to secure the IORT field.     

Voltage-dependent effects of YC-170, a dihydropyridine calcium channel modulator,in cardiovascular tissues

Voltage-dependent effects of YC-170, a putative calcium channel activator, were examined and compared with those of Bay K 8644 in isolated guinea-pig cardiac tissues and rabbit aortae. In guinea-pig left atria superfused with a normal bathing solution (4 mmol/l K+), both YC-170 (10 mumol/l) and Bay K 8644 (1 mumol/l) produced a positive inotropic action accompanied by a prolongation of action potential durations (APDs). In normally-polarized guinea-pig papillary muscles Bay K 8644 increased force of contraction (fc) and APDs. However, YC-170 failed to increase fc in spite of a slight prolongation of APDs. In papillary muscles partially depolarized by 25 mmol/l K+ solution, Bay K 8644 enhanced the electrically-induced slow action potentials and contractile force. In contrast with Bay K 8644, YC-170 significantly depressed the slow action potentials and decreased fc. YC-170 also showed the depressant action on the slow action potentials induced by isoproterenol (0.1 mumol/l), histamine (3 mumol/l) and tetraethylammonium (10 mmol/l) plus high Ca2+ (4 mmol/l). In sinoatrial node cells of guinea-pig right atria Bay K 8644 produced a positive chronotropic action with increases in the maximum rate of rise (Vmax) and action potential amplitude (APA), whereas YC-170 produced a negative chronotropic action with decreases in Vmax and APA. In the rabbit aortic strips preincubated with bathing solution containing various concentrations of K+ (15, 20, 30 and 40 mmol/l), Bay K 8644 produced concentration-dependent contractions in a range of concentrations up to 0.3 mumol/l. However, when the concentration exceeded 1 mumol/l, Bay K 8644 caused a slight relaxation, irrespective of the K+ concentrations of bathing solution. YC-170 in concentrations of 10 and 30 mumol/l contracted the aortic strips placed in 5.9 or 15 mmol/l K+ bathing solution, but caused relaxation in 30 or 40 mmol/l K+ bathing solution. These results suggest that YC-170 is a dihydropyridine calcium channel modulator which behaves as a Ca2+ channel agonist in tissues of high membrane potentials, but as a Ca2+ channel antagonist in tissues of low membrane potentials.     

Effects of Ca2+ channel antagonists and ryanodine on H1-receptor mediated electromechanical response to histamine in guinea-pig left atria

Summary Effects of organic Ca²⁺ channel antagonists, Ni²⁺ and ryanodine on the electrophysiological and positive inotropic responses to histamine were examined in isolated guinea-pig left atria. Histamine increased force of contraction, prolonged action potential duration (APD) and hyperpolarized the membrane in a concentration-dependent manner. Histamine at a concentration of 1 mol/l produced a dual-component positive inotropic response composed of an initial increasing phase (initial component) and a second an late developing, greater positive inotropic phase (second component), whereas causing monophasic changes in APD and resting potential. The electrophysiological and dual-component positive inotropic effects induced by histamine were antagonized by chlorpheniramine (1 mol/l) but not by cimetidine (10 mol/l), indicating that both effects are exclusively mediated by H₁-receptors. The positive inotropic response to 1 mol/l histamine was changed by the pretreatment with nifedipine (1 mol/l) and nisoldipine (1 mol/l). In the presence of these dihydropyridines, the second component was almost completely abolished, while the initial component was hardly affected. On the other hand, verapamil (3 mol/l) and diltiazem (10 mol/l) failed to modify the multiphasic inotropic response to histamine. None of the Ca²⁺ channel antagonists affected the histamine-induced APD prolongation. In the presence of Ni²⁺ at a concentration of 0.3 mmol/l, at which it produced no negative inotropic action, the second component of the positive inotropic effect of histamine was specifically suppressed whereas the histamine-induced APD prolongation was unaffected. Preferential attenuation of the second component was also observed in the presence of 30 nmol/l ryanodine. However, the electrophysiological alterations caused by histamine remained unchanged. These results suggest that in guinea-pig left atria the H₁-receptor-mediated prolongation of APD seems unlikely to be due to enhancement of the slow inward Ca²⁺ current. Conversely, the increased Ca²⁺ influx as a result of the APD prolongation may contribute to the second component of the positive inotropic effect of histamine. Dihydropyridine Ca²⁺ channel antagonists, Ni²⁺ and ryanodine are all capable of inhibiting the second component, but do so possibly via different mechanisms, implying the complicated mechanisms underlying the H₁-receptor-mediated positive inotropic effect.Send offprint requests to Y. Hattori