Combined Phototherapeutic Keratectomy and Peripheral Anterior Stromal Puncture for the Treatment of Recurrent Corneal Erosion Syndrome

Purpose@#To investigate the efficacy of the combined phototherapeutic keratectomy (PTK) and peripheral anterior stromal puncture (ASP) compared with that of PTK alone in patients with recurrent corneal erosion syndrome (RCES). @*Methods@#The medical records of 25 patients (25 eyes) who underwent combined treatment of PTK and peripheral ASP for RCES from March 2016 to May 2017 were retrospectively reviewed. Twenty-three patients (23 eyes) treated with PTK alone from March 2015 to February 2016 served as a control group. All surgeries were performed by a single surgeon. This retrospective clinical study comprised 48 patients (48 eyes) who were followed up for more than 18 months. Clinical records of age, sex, laterality, etiology of RCES, and history of recurrence after treatment were evaluated. @*Results@#Twenty-five eyes were treated with combined PTK and ASP, and 23 eyes were treated with PTK only. The mean follow-up period was 19.63 ± 2.97 and 19.75 ± 6.83 months, respectively. There were no differences in baseline parameters between the groups. In the combined treatment group, one patient experienced recurrence 6 months after the surgery. In the single treatment group, five patients showed recurrence at 4, 7, 8, 11, and 13 months after the surgery, respectively.Compared to the single treatment group, the combined treatment group showed significantly lower recurrence rate (p < 0.05).All recurred patients required no additional treatment except temporary therapeutic contact lenses and topical lubricants. @*Conclusions@#Our findings suggest that combined treatment of PTK and peripheral ASP is effective in alleviation of symptoms and prevention of recurrence in refractory RCES compared with treatment using PTK alone.

Changes in Tear Volume after 3% Diquafosol Treatment in Patients with Dry Eye Syndrome: An Anterior Segment Spectral-domain Optical Coherence Tomography Study

PURPOSE: To evaluate changes in the tear meniscus area and tear meniscus height over time in patients with dry eye syndrome, using anterior segment spectral-domain optical coherence tomography after the instillation of 3% diquafosol ophthalmic solution. METHODS: Sixty eyes from 30 patients with mild to moderate dry eye syndrome were included. Tear meniscus images acquired by anterior segment spectral-domain optical coherence tomography were analyzed using National Institutes of Health's image-analysis software (ImageJ 1.44p). Tear meniscus area and tear meniscus height were measured at baseline, 5 minutes, 10 minutes, and 30 minutes after instillation of a drop of diquafosol in one eye and normal saline in the other eye. Changes in ocular surface disease index score, tear film break-up time, corneal staining score by Oxford schema, and meibomian expressibility were also evaluated at baseline, and after 1 week and 1 month of a diquafosol daily regimen. RESULTS: Sixty eyes from 30 subjects (mean age, 29.3 years; 8 men and 22 women) were included. In eyes receiving diquafosol, tear volume was increased at 5 and 10 minutes compared with baseline. It was also higher than saline instilled eyes at 5, 10, and 30 minutes. Changes in tear volume with respect to baseline were not statistically different after the use of diquafosol for 1 month. Ocular surface disease index score, tear film break-up time, and Oxford cornea stain score were significantly improved after 1 week and 1 month of daily diquafosol instillation, but meibomian expressibility did not change. CONCLUSIONS: Topical diquafosol ophthalmic solution effectively increased tear volume for up to 30 minutes, compared to normal saline in patients with dry eye syndrome.

Comparison of Anterior Segment Measurements Using Scanning-Slit Topography and Optical Low-Coherence Reflectometry (OLCR) Biometry

PURPOSE: To compare the results of anterior segment biometry including white-to-white (WTW) between scanning-slit topography (ORBscan IIz(R), Bausch & Lomb), optical low-coherence reflectometry (OLCR) biometry (Lenstar(R), Haag-Streit), and Castroviejo calipers. METHODS: Measurements on 72 eyes of 36 patients that underwent refractive surgery were measured using ORBscan(R), Lenstar(R), and calipers and compared. Ocular biometry parameters used in this study included the WTW, central corneal thickness, anterior chamber depth (ACD), keratometry, and pupil size. RESULTS: The WTW measurements using ORBscan(R) and calipers (11.57 +/- 0.35 mm and 11.58 +/- 0.34 mm, respectively) were statistically similar. However, the measurement using Lenstar(R) (12.05 +/- 0.40 mm) was significantly greater than with the other methods (p < 0.001). Central corneal thickness and keratometry measurements using ORBscan(R) were greater than when using Lenstar(R) (p = 0.01 for both). ACD and pupil size measurement using Lenstar(R) were greater than when using ORBscan(R) (p < 0.001 for both). CONCLUSIONS: Because WTW and ACD measurements using Lenstar(R) were greater than when using ORBscan(R) and calipers, unexpected high-vaulting may be observed due to the selection of a larger-sized posterior chamber phakic intraocular lens. Therefore, the differences in measurements obtained when using these methods should be considered.

Comparison of Anterior Segment Measurements Using Scanning-Slit Topography and Optical Low-Coherence Reflectometry (OLCR) Biometry

PURPOSE: To compare the results of anterior segment biometry including white-to-white (WTW) between scanning-slit topography (ORBscan IIz(R), Bausch & Lomb), optical low-coherence reflectometry (OLCR) biometry (Lenstar(R), Haag-Streit), and Castroviejo calipers. METHODS: Measurements on 72 eyes of 36 patients that underwent refractive surgery were measured using ORBscan(R), Lenstar(R), and calipers and compared. Ocular biometry parameters used in this study included the WTW, central corneal thickness, anterior chamber depth (ACD), keratometry, and pupil size. RESULTS: The WTW measurements using ORBscan(R) and calipers (11.57 +/- 0.35 mm and 11.58 +/- 0.34 mm, respectively) were statistically similar. However, the measurement using Lenstar(R) (12.05 +/- 0.40 mm) was significantly greater than with the other methods (p < 0.001). Central corneal thickness and keratometry measurements using ORBscan(R) were greater than when using Lenstar(R) (p = 0.01 for both). ACD and pupil size measurement using Lenstar(R) were greater than when using ORBscan(R) (p < 0.001 for both). CONCLUSIONS: Because WTW and ACD measurements using Lenstar(R) were greater than when using ORBscan(R) and calipers, unexpected high-vaulting may be observed due to the selection of a larger-sized posterior chamber phakic intraocular lens. Therefore, the differences in measurements obtained when using these methods should be considered.

A Case of Syphilitic Scleritis Initially Misdiagnosed as Noninfectious Nodular or Fungal Scleritis

PURPOSE: To report a case of syphilitic scleritis initially misdiagnosed as noninfectious nodular or fungal scleritis. CASE SUMMARY: A 63-year-old female, who had severe headaches and ocular pain in her left eye despite treatment with topical and oral NSAIDs for the past 4 months, was transferred from a local clinic. The patient had a history of pterygium excision in the same eye 4 years prior. Upon presentation, she had a scleromalacia with calcified plaque at the nasal conjunctiva. An erythematous nodular elevated lesion was observed in the superonasal sclera. Microbiological smear and cultures were performed to exclude infectious scleritis. Under the suspicion of noninfectious nodular scleritis, the patient was prescribed topical oral steroid and oral NSAIDs. Candida parapsilosis was identified by the microbiological culture. Under the suspicion of fungal scleritis, oral fluconazole and topical amphotericin B were administered, but the lesions did not improve. On the 23rd day of treatment, we discovered the patient had a history of syphilis. The serology test was negative for RPR and FTA-ABS IgM but positive for FTA-ABS IgG. Under the suspicion of syphilitic scleritis, oral doxycycline (200 mg bid) was administered and benzathine penicillin M (2.4 million units) was injected intramuscularly 3 times at 1-week intervals. After the doxycycline and benzathine penicillin therapy, the pain and nodular erythematous lesions were completely resolved. CONCLUSIONS: As shown in this case, syphilitic scleritis should be considered when the patient is resistant to other conventional treatments and shows positive serological tests for syphilis. This is important because syphilitic scleritis is usually aggravated by steroid treatment but can be cured by proper anti-syphilitic chemotherapy.

Changes in Spherical Aberration after Various Corneal Surface Ablation Techniques

PURPOSE: The corneal change induced by refractive procedures influence both the postoperative refractive status and the ocular spherical aberration (SA). We evaluated changes in corneal SA after three types of surface ablation: phototherapeutic keratectomy (PTK), myopic photorefractive keratectomy (PRK), and myopic wavefront-guided laser epithelial keratomileusis (LASEK). METHODS: Twenty-six eyes (25 patients) were subjected to PTK 26 eyes (14 patients) to PRK, and 34 eyes (17 patients) to wavefront-guided LASEK. Corneal SA was measured with the iTrace in all patients both preoperatively and 6 months postoperatively. RESULTS: Six months after surgery, mean corneal SA was -0.173 +/- 0.171 micrometer in the PTK group, 0.672 +/- 0.200 micrometer in the PRK group, and 0.143 +/- 0.136 micrometer in the wavefront-guided LASEK group. The mean difference between the preoperative and postoperative corneal SA (DeltaSA) was -0.475 micrometer in the PTK group, 0.402 micrometer in the PRK group, and -0.143 micrometer in the wavefront-guided LASEK group. CONCLUSIONS: Surgically induced changes in corneal SA vary with procedure. The prediction of the pattern of SA change induced by various surface ablation procedures may be helpful for developing future surgical procedures.

Changes in Spherical Aberration after Various Corneal Surface Ablation Techniques

PURPOSE: The corneal change induced by refractive procedures influence both the postoperative refractive status and the ocular spherical aberration (SA). We evaluated changes in corneal SA after three types of surface ablation: phototherapeutic keratectomy (PTK), myopic photorefractive keratectomy (PRK), and myopic wavefront-guided laser epithelial keratomileusis (LASEK). METHODS: Twenty-six eyes (25 patients) were subjected to PTK 26 eyes (14 patients) to PRK, and 34 eyes (17 patients) to wavefront-guided LASEK. Corneal SA was measured with the iTrace in all patients both preoperatively and 6 months postoperatively. RESULTS: Six months after surgery, mean corneal SA was -0.173 +/- 0.171 micrometer in the PTK group, 0.672 +/- 0.200 micrometer in the PRK group, and 0.143 +/- 0.136 micrometer in the wavefront-guided LASEK group. The mean difference between the preoperative and postoperative corneal SA (DeltaSA) was -0.475 micrometer in the PTK group, 0.402 micrometer in the PRK group, and -0.143 micrometer in the wavefront-guided LASEK group. CONCLUSIONS: Surgically induced changes in corneal SA vary with procedure. The prediction of the pattern of SA change induced by various surface ablation procedures may be helpful for developing future surgical procedures.

Clinical Usefulness of a Thermal-Massaging System for Treatment of Dry Eye with Meibomian Gland Dysfunction

PURPOSE: To evaluate the clinical usefulness of KCL 990(R) for the treatment of dry eye with meibomian gland dysfunction (MGD). METHODS: Patients (n = 54 eyes, 27 subjects) diagnosed with dry eye with MGD were recruited for a prospective, one-month clinical trial. Patients received a twice-a-day 15-minute treatment using the KCL 990(R). Effectiveness parameters included patient symptom scores using the Ocular Surface Disease Index (OSDI) questionnaires, tear osmolarity measured with TearLab(R) (TearLab Corporation, San Diego, CA, USA), classical tear break-up time (TBUT), and objective TBUT value using an Optical Quality Analysis System (OQAS(R), Visiometrics, Castelldefels, Spain). Data are presented for pre-treatment (baseline) and at 1 week and 1 month post-treatment. An objective TBUT value was estimated in each eye when the optical scattering index (OSI) started to increase consistently, and data were obtained at pretreatment (baseline) and at 1 month post-treatment. RESULTS: The symptom scores on OSDI questionnaires, tear osmolarity, and tear break-up time improved significantly from baseline to one week (p < 0.05). This improvement was maintained with no significant regression at 1 month (p < 0.05). The objective TBUT value decreased significantly at 1 month (p < 0.05). CONCLUSIONS: KCL 990(R) contributed to improve not only signs and symptoms of dry eye with MGD, but also the function of the tear film and ocular surface.

Comparison of Colvardpupillometer, ORBScan II and Sirius in Determining Pupil Size for Refractive Surgery

PURPOSE: To compare pupil size measured by Colvard(R)pupillometer, ORBScan II(R), Sirius(R) and analyze correlation between pupil size and night vision disturbance after refractive surgery according to measuring methods. METHODS: Two hundred eyes of one hundred patients who underwent refractive surgery were retrospectively evaluated. Pupil size was measured with Colvard(R)pupillometer, Sirius(R) in the scotopic light condition and with ORBScan II(R), Sirius(R) in the photopic light condition. Patients filled out questionnaire about night vision disturbance at postoperative three months. Correlation between pupil size according to measuring methods and night vision disturbance was evaluated. RESULTS: The mean age of patient was 26 years and number of male patients was 36. In scotopic light condition, pupil size measured with Colvard(R)pupillometer (6.76 mm) was significantly larger than that of Sirius(R) (6.53 mm) (p < 0.001). In photopic light condition, pupil size measured with ORBScan II(R) (3.98 mm) was significantly smaller than that of Sirius(R) (4.41 mm) (p < 0.001). Night vision disturbance were correlated with pupil size and Sirius(R) in the scotopic light condition had strongest correlation among three measuring method (r = 0.44). CONCLUSIONS: Sirius(R) tends to measure pupil size smaller than Colvard(R)pupillometer in the scotopic light condition. The correlation between night vision disturbance and pupil size was highest in Sirius(R).

Cytomegalovirus as a Cause of Recurrent Anterior Uveitis in Immunocompetent Patients

PURPOSE: This study aimed to identify various infectious causes in unilateral recurrent hypertensive anterior uveitis in immunocompetent individuals. METHODS: Twenty eyes of 20 patients diagnosed with recurrent hypertensive anterior uveitis, who had negative systemic uveitis lab results, were enrolled. Polymerase chain reaction (PCR) was performed in the aqueous humor and peripheral blood specimens to detect the following infectious agents: cytomegalovirus (CMV), herpes simplex virus-1 (HSV-1), varicella zoster virus (VZV), toxoplasma. RESULTS: The mean age of 20 patients was 41.8 +/- 15.9 year (19-77 year), and 14 (70%) patients were male. CMV was positive in 7 eyes (35%) and was detected only in aqueous humor. HSV-1 was positive in 5 (25%) eyes; only in aqueous humor in 2 eyes, only in blood in 1 eye, and in both specimens in 2 eyes. Only 1 (5%) eye was positive for toxoplasma in the aqueous humor. CONCLUSIONS: This study demonstrated that CMV might be another major infectious cause in recurrent hypertensive anterior uveitis in immunocompetent patients. If CMV is detected, it might be reasonable to add appropriate antiviral agents, rather than treating only with immunosuppresive and hypotensive drugs.

Combined Implantation of Monofocal and Multifocal Intraocular Lenses in Senile Cataract Surgery

PURPOSE: To assess binocular visual outcomes in patients who were implanted with a monofocal IOL (intraocular lens) in one eye and a multifocal IOL in the contralateral eye or with a bilateral multifocal IOL. METHODS: This study enrolled 15 patients (30 eyes) implanted with a monofocal IOL in one eye and a multifocal IOL in the contralateral eye (5 patients, group 1) or with a bilateral multifocal IOL (10 patients, group 2). Binocular visual acuity (uncorrected/best distance corrected near, intermediate, and distance vision), binocular uncorrected reading speed, and contrast sensitivity were assessed at 6 months following the last implantation. Patient's quality of life (overall satisfaction, halos and glare presence, and spectacle dependence) was also assessed using a questionnaire at 6 months postoperatively. RESULTS: There was significant difference in the uncorrected and corrected near visual acuity between the 2 groups in the mesopic condition. There was no significant difference in visual acuity, reading speed and contrast sensitivity in other conditions between the 2 groups. Spectacle dependence rate was 60% in group 1 and 20% in group 2. The glare symptom was present in 60% of patients in both groups and the halo symptom was present in 3 out of 10 patients in group 2. Overall satisfaction score was not significantly different between the groups. CONCLUSIONS: The combined implantation of a monofocal and a multifocal lens revealed similar visual outcomes compared to bilateral multifocal IOL implantation except for near vision. In addition, the results showed similar patient satisfaction in both groups.

Comparative Study of Two Aspheric, Aberration-Free Intraocular Lenses in Cataract Surgery

PURPOSE: To compare clinical outcomes of aberration-free MI60 intraocular lens (IOL) in microincision cataract surgery and an aberration-free intraocular lens, Akreos AO in conventional cataract surgery. METHODS: Patients were randomly assigned to two IOL groups, and were examined preoperatively, and at one and three months postoperatively. The performed ophthalmologic evaluation included best corrected visual acuity (BCVA), measurement of refractive error, corneal astigmatism, and surgically induced astigmatism. The spherical, total, and higher-order aberration analysis of the two groups were assessed at one month and three months after operation. RESULTS: MI60 IOL group provided significantly less corneal astigmatism (p=0.020) one month after operation, compared to Akreos AO group. The MI60 group also showed significantly less surgically-induced astigmatism at one month (p=0.021) and three months postoperatively (p=0.043). There was no statistically significant difference in the spherical, higher-order, and total aberration between the two groups at one and three months after operation. CONCLUSIONS: MI60 IOL group resulted in less corneal astigmatism and surgically induced corneal astigmatism than the Akreos AO IOL group. There was no statistically significant difference in spherical, higher-order, and total aberrations between the two groups.

Comparison of Wavefront Analysis and Visual Function Between Monofocal and Multifocal Aspheric Intraocular Lenses

PURPOSE: To compare postoperative vision, high-order aberrations, contrast sensitivity, power of accommodation, and depth of focus of monofocal aspheric (TECNIS ZA9003) and multifocal aspheric (TECNIS ZM900) intraocular lenses (IOL). METHODS: Thirty-four eyes which received intraocular lens implantation in the posterior chamber were equally divided into two groups: TECNIS ZA9003 (17 eyes) and TECNIS ZM900 (17 eyes). Before and three months after surgery, visual acuities at near, intermediate, and far distances, and depth of focus were recorded. High order aberrations, spherical aberrations and accommodation power were measured with iTrace, and contrast sensitivity was evaluated using Optec 6500. An independent T-test analysis was used to compare the two groups. RESULTS: There were no significant differences of high order aberrations, spherical aberrations, accommodation power, or distance vision between the two groups at three months postoperatively. The multifocal IOL (TECNIS ZM900) group revealed better intermediate and near vision (p<0.01) and deeper depth of focus, and lower contrast sensitivities (p=0.03) than the monofocal IOL group. CONCLUSIONS: There was no difference in accommodation power between the two groups, but multifocal TECNIS ZM900 IOL exceeds monofocal TECNIS ZA9003 IOL in intermediate and near vision due to diffractive lens design and less spherical aberration by its asphericity.

Clinical Outcomes of Toric Iris-fixated Phakic Intraocular Lens: Six-Month Follow-up

PURPOSE: To evaluate the clinical results of toric iris-fixated phakic intraocular lens (Artisan(R)) implantation for the correction of myopia with astigmatism. METHODS: Sixteen eyes of 11 patients underwent toric Artisan(R) lens implantation between April 2004 and February 2006 and were followed up for 6 months. We analyzed visual acuity, refraction, change in astigmatism, efficacy, safety, predictability, and complications. RESULTS: Among 11 patients, 4 were men and 7 were women, with an average age of 30.9 years. The preoperative mean uncorrected visual acuity (UCVA) was 0.02, except for 1 eye with post-LASIK astigmatism (0.4); the mean spherical equivalent refraction was -11.06+/-4.11D; and the mean astigmatism was -2.91+/-0.91D. At postoperative 1 month, 3 months, and 6 months, UCVA was more than 0.8 in 31%, 69%, 81% of eyes and more than 0.5 in 94%, 94%, 100% of eyes, respectively. Mean astigmatism decreased to -2.28, -1.37, and -0.73 and the spherical equivalent refraction was within 1.0D in 56%, 81%, 88% of eyes, respectively. For the vector analysis of astigmatic change, a doubled-angle scatterplot revealed that the postoperative 6 month data were located mainly at the center of the plot, which indicated a considerable reduction of astigmatism by magnitude and axis. At postoperative 6 months, the efficacy and safety indices were 99.0% and 114.7%, respectively. Complications included transient elevation of intraocular pressure in 1 eye and nighttime glare or halo in 3 eyes. CONCLUSIONS: Although the patient population was small, six-month clinical results demonstrate that the implantation of the toric Artisan lens was safe, reliable, and effective for correcting high myopia with astigmatism.

Effects of Intravitreal Amniotic Membrane Injection in a Rat Model of Choroidal Neovascularization

PURPOSE: To evaluate the effects of an intravitreal amniotic membrane (AM) injection on a rat model of laser-induced choroidal neovascularization (CNV). METHODS: Intravitreal injection of AM (12.5 microgram/mL) into the left eyes and phosphate-buffered saline into the fellow eyes of 15 rats was performed immediately after laser injury. At week 2, after angiography, the rats were sacrificed, and histopathologic analysis was performed. Angiographic and histopathologic assessments of the effects of AM injection on CNV growth were compared between the two groups. RESULTS: CNV thickness was found to have increased more in the AM treatment group (141.54+/-8.12 micrometer) than in the experimental control group (65.23+/-16.90 micrometer) (p=0.010). CONCLUSIONS: Intravitreal AM injection demonstrated histopathologic pro-angiogenic properties in a rat model of CNV.

A Case of Combined Bacterial Keratitis with Recurrent Corneal Erosion

PURPOSE: We report a case of keratitis of Stenotrophomonas maltophilia and Coagulase negative Staphylococcus in a recurrent corneal erosion patient. METHODS: A 29-year-old female patient was referred to our clinic for an intractable corneal ulcer in her left eye. RESULTS: Her best corrected visual acuity in her left eye was 10/400 and the cornea showed a 2x2 mm corneal infiltration at the 6 o'clock position along with endothelial plaque. Initially, 5% cefazolin, 1.4% tobramycin, 3.3% vancomycin, and 0.125% amphotericin were administered every 2 hours, and Natacyn(R) was administered every 4 hours, but corneal infiltration was still aggravated. After nine days of medical treatment, the advancement of the conjunctival flap was performed. The lesion had not improved, and corneal scrape and culture were repeated. Stenotrophomonas maltophilia and Coagulase negative Staphylococcus were identified. Treatment with clindamycin and Cravit(R), to which isolated organisms are susceptible, was started, and the lesion improved. During the treatment, her right eye showed a painful epithelial defect in the morning, and a few days later recurrent corneal epithelial bullae developed in her left eye. She was diagnosed with recurrent corneal erosion in both eyes. The infection lesion improved by using 2% clindamycin and Cravit(R), but the corneal bullae were not controlled, and therefore all eyedrops gradually tapered. After the cessation of eyedrops, corneal epithelial bullae disappeared. When she visited our clinic 12 days after discharge, her vision was 20/30 and her corneal lesion had improved completely.

A Case of Weill-Marchesani Syndrome with Inversion of Chromosome 15

PURPOSE: To present a case of Weill-Marchesani syndrome with corneal endothelial dysfunction due to anterior dislocation of a spherophakic lens and corneolenticular contact. METHODS: A 17-year-old woman presented with high myopia and progressive visual disturbance. She was of short stature and had brachydactyly. Her initial Snellen best corrected visual acuity (BCVA) was 20/50 (-sph 20.50 -cyl 3.00 Ax 180) in her right eye and 20/40 (-sph 16.00 -cyl 6.00 Ax 30) in her left eye. Slit lamp examination revealed a dislocated spherophakic lens touching corenal endothelium. A microspherophakic lens, hypoplastic ciliary body, and elongated zonules were confirmed on rotating Scheimpflug camera (Pentacam(R)) and on ultrasound biomicroscopy. Specular microscopy showed corneal endothealial dysfunction. Systemic evaluation was performed, and chromosomal study showed 46, XX, inv (15) (q13qter). The patient was diagnosed with Weill-Marchesani syndrome. RESULTS: Due to impending corneal decompensation, phacoemulsification and suture fixation of the intraocular lens were performed. The operation and postoperative course were uneventful. Three months postoperatively, the visual acuity was 20/30 (OD) and 20/40 (OS) without correction, and BCVA was 20/20 (+sph 0.50 -cyl 2.00 Ax 160 : OD) and 20/25 (+sph 1.50 -cyl 3.00 Ax 30 : OS). During the follow-up period, increased corneal endothelial counts, hexagonality, and decreased corneal thickness were achieved. CONCLUSIONS: In Weill-Marchesani syndrome with a chromosomal anomaly, a dislocated spherophakic lens may cause severe corneal endothelial dysfunction due to corneolenticular contact, and prompt lensectomy is important to prevent such complications.

A Case of del(13)(q22) with Multiple Major Congenital Anomalies, Imperforate Anus and Penoscrotal Transposition

"13q-"syndrome is known to have widely variable manifestations, including retinoblastoma, mental and growth retardation, malformation of brain and heart, anal atresia, and anomalies of the face and limbs. Here we report a case of del(13)(q22) with multiple major congenital anomalies for the first time in Korea. The patient was born at 36+4 weeks of pregnancy by caesarian section. Birth weight was 1490g. On examination the following features were noted: - imperforate anus, ambiguous genitalia (bifid scrotum, penoscrotal transposition, hypospadia), syndactyly of toes, absence of thumbs, abnormal facies (dolichocephaly, telecanthus, large low set ears, saddle nose, high arched palate, micrognathia). Neurocranial ultrasonography showed atrophy of the corpus callosum and multiple calcifications. He died at 14 days. Post-mortem autopsy findings showed cholestasis and fatty metamorphosis of liver, abnormal lobulation (Rt:2, Lt:1) and lymphangiectasis of the lung, VSD, ASD, PDA of heart, and acute tubular necrosis of kidney. Cytogenetic studies was confirmed to 46,XY,del(13) (q22) by Giemsa banded chromosomes from peripheral blood lymphocytes.

Clinical Usefulness of EBV-Specific Antibody Panel Test and PCR Genotyping in the Diagnosis of Epstein-Barr Virus Infection / 대한임상병리학회지

BACKGROUND: Epstein-Barr virus(EBV)-specific Ab ELISA using recombinant antigens is the most widely used method in the diagnosis of EBV infection. Recently sensitivity and specificity were greatly improved. But still the early antigen(EA)-IgM is too sensitive for discriminating the true EBV infection from secondary reactivation by other infectious agents or autoimmune diseases. So we compared EBV-specific panel test with PCR genotyping. METHODS: We studied 944 patients in Yonsei University Medical College Hospital who were suspected to have EBV infection. EBV-specific Ab panel test including EA-IgM, EA-IgG, EBNA-IgG was performed and EBV PCR was also performed in 151 randomly selected patients. The test results were classified into 9 stages by optical density. EBNA 2 region was amplified by PCR using DNAs isolated from peripheral blood mononuclear cells. RESULTS: The seronegative rate was 9.9% given the EBV Ab panel results. Seronegative/primary infection was high in the pediatric group, past infection was high in the adult group, and reactivation was high in the ICU/transplanted group. The overall positive rate of EBV PCR in 151 patients was 35.8%, of which type 1 genotype was 55.6%, type 2 was 20.4%, and coinfection of type 1 and 2 was 24.1%. PCR results were all negative in seronegative group. PCR positive rates of primary infection and reactivation were high(41.7%, 43.5%, respectively). CONCLUSIONS: EBV Ab panel and EBV PCR showed good correlation. EBV panel test was useful in the screening and staging of EBV infection. EBV PCR genotyping was also needed in confirming and determining prognosis of EBV infection especially in an immunocompromised host.

The Influence of Food Ingestion and Sample Storage on Direct LDL-Cholesterol Measurement by Immunoseparation Method / 대한임상병리학회지

BACKGROUND: Elevated level of low density lipoprotein-cholesterol (LDL-C) is one of the major risk factors for the development of coronary heart disease. Direct LDL-C determination method by immunoseparation (DLDL-C) recently developed is claimed not to be influenced by food ingestion. We re-evaluated the effects of diet and storage conditions for this method. METHODS: Samples were collected from thirty-two medical college students before and after meal to study the effects of diet on this method. We compared the difference of LDL-C of filtered samples between refrigerated and frozen state. We also compared direct and indirect calculated measurements of LDL-C with ultracentrifugal beta-quantification (BQLDL-C) method. RESULTS: Morning 2-hour-postprandial specimen can be acceptable with no minimal significant bias, but afternoon 2-hour or 4-hour-postprandial specimen cannot be recommended due to significant negative bias (8.6-9.6%). Storage of filtered samples showed no significant difference between frozen and refrigerated state. Calculated LDL-C when triglyceride level is more than 400 mg/dL was not reliable due to large proportional and constant bias. In contrast, DLDL-C showed good accuracy comparing with BQLDL-C (y=0.909x+3.3, r=0.869, n=9, x=BQLDL-C, y=DLDL-C). CONCLUSION: In conclusion, morning two-hour postprandial specimens can be acceptable for DLDL-C, but afternoon postprandial specimens may not be recommended due to significant negative bias. DLDL-C seems to be reliable and useful especially for hypertriglyceridemic patients or follow-up cases of hypercholesterolemia with normal triglyceride or HDL-C levels.