Unusual case of enlarged choroidal vessels in neurofibromatosis type 1 observed with near-infrared reflectance and spectral domain optical coherence tomography.

ABSTRACT: The cardinal diagnostic signs of neurofibromatosis type 1 (NF1) are Lisch nodules of the iris and optic pathway gliomas. Retinal mi-crovascular alterations have been described but with uncertain signi-ficance. Choroidal nodules, detectable with near-infrared reflectance (NIR) imaging, are present in most cases and have been proposed as a new diagnostic criterion. Recently, a study reported the presence of unusual dilated choroidal vessels, visible through NIR examination. We report a case of a 65-year-old patient with NF1. Best-corrected visual acuity was 20/20 with a refractive error of +2.75 diopters in both eyes. Anterior segment examination revealed Lisch nodules in both eyes. At NIR imaging the patient presented typical choroidal alterations in both eyes. No retinal vessel anomalies were detected. The patient presented enlarged choroidal vessels in the left eye, first detected by NIR and then analyzed through enhanced depth imaging spectral domain optical coherence tomography (EDI-SDOCT). These vessels extended from the choroidal-scleral junction to the outer border of the retinal pigment epithelium/Bruch's layer. The choriocapillaris layer was absent above the dilated vessels. The presence of enlarged choroidal vessels may be considered as a novel distinctive ophthalmologic aspect of NF1, but further studies are necessary.

Early identification of keratoconus using pachymetric indexes obtained with spectral domain optical coherence tomography.

PURPOSE: To evaluate the diagnostic ability of pachymetric indexes obtained with Spectral Domain Optical Coherence Tomography (SD-OCT) for early detection of keratoconus (Kc). METHODS: 64 patients with Kc in at least one eye (95 eyes, 46 men and 18 women, average age 27.84 ±13.50), 59 healthy control subjects (100 eyes, 28 men and 31 women, average age 27.15 ±16.14). All patients underwent detailed clinical examination, topography and anterior segment OCT. 37 subjects (37 eyes, 27 men and 10 women, average age 24.23 ± 14.24) having one eye with manifest Kc and the fellow eye without clinical signs of Kc were identified. We studied two groups of pachymetric indexes: C1-C2, M1-M2, pCLMI, Pmin-P2 (Group 1 indexes) and PPD, PSD, PSSD and PASD (Group 2 indexes). A ROC (Receiver Operating Characteristic) curve was developed to compare the diagnostic accuracy, relative sensitivity and specificity for each index. RESULTS: In manifest keratoconus, C1-C2, M1-M2, and pCLMI are significantly higher compared to the control group (P<0.0001); for suspect keratoconus, all Group 1 indexes are significantly higher compared to healthy subjects (P<0.0001) excluding M1-M2 obtained using a constant area circle (P = 0.02). Furthermore, for manifest and suspect keratoconus, PPD, PSD, PSSD and PASD are significantly higher compared to the control group (P <0.0001). CONCLUSION: The studied pachymetric indexes in patients with Kc have high diagnostic accuracy and are statistically significant when compared with healthy subjects (p<0.0001) and can provide a useful tool for keratoconus screening.

Fixation Improvement through Biofeedback Rehabilitation in Stargardt Disease.

Stargardt disease is the most common hereditary macular degeneration in juveniles. It is characterized by macular dystrophy associated with loss of central vision in the first or second decade of life, a "beaten-metal" appearance in the fovea or parafoveal region, yellowish flecks around the macula or in posterior area of the retina, progressive atrophy of the bilateral foveal retinal pigment epithelium, and the "dark choroid" sign on fundus fluorescein angiography in most cases. We report a case of Stargardt disease in a 26-year-old Caucasian female submitted to rehabilitative training with microperimetry MP-1 to find a new preferred retinal locus (PRL) and to train her to better her quality of life. Best corrected visual acuity, mean retinal sensitivity, fixation, bivariate contour ellipse area, and speed reading were evaluated before and after the training and results were discussed.

Intracameral epinephrine without the addition of intracameral lidocaine in the management of tamsulosin associated intraoperative floppy iris syndrome.

OBJECTIVE: Intracameral mydriatics using epinephrine associated with lidocaine have been reported as efficacious in reducing intraoperative floppy iris syndrome (IFIS) complications during cataract surgery. The aim of this study was to verify the efficacy of intracameral epinephrine without intracameral lidocaine as prophylaxis against IFIS in patients on tamsulosin. MATERIALS AND METHODS: This was a retrospective study on the results of cataract surgery in 18 patients on therapy with tamsulosin. Patients had undergone routine phacoemulsification in one eye. Successively, they underwent phacoemulsifcation in the fellow eye using non preserved intracameral epinephrine 1:4000 diluted with BSS. Intraoperative complications during cataract surgery had been documented and IFIS was graded based on iris billowing, miosis or iris prolapse. Follow-up was 3 months. RESULTS: Thirty-six eyes of 18 patients were included in the evaluation. The incidence of IFIS was significantly higher in the eyes where routine phacoemulsificaton had been performed (100%) with respect to eyes where phacoemulsification was carried out using intracameral epinephrine (33%) (Chi Square test =15.12, p<0.001). In routine phacoemulsification 16 eyes showed iris billowing, 14 eyes had some extent of miosis and 14 eyes had tendency to iris prolapse. In phacoemulsification with the use of intracameral epinephrine 5 eyes showed iris billowing, 4 eyes presented some extent of miosis and 2 eyes had tendency to iris prolapse. There were no serious intraoperative complications. CONCLUSIONS: Intracameral epinephrine without the addition of lidocaine was efficacious in the management of IFIS in patients on tamsulosin.

[Inveterate squamous cell carcinoma of the upper eyelid: a case report]. / Carcinoma squamocellulare inveterato della palpebra superiore: Caso clinico.

Squamous cell carcinoma (SCC) is a malignant tumor of epithelium that shows squamous cell differentiation. It is the second most common cancer of the skin and usually occurs in areas exposed to the sun but it can rarely arise within the conjunctival epithelium with a deep component. We describe a woman with a history of chronic blepharoconjunctivitis unresponsive to topical medications. Examination disclosed a hyperaemic translucent patch with blurred margins of the upper palpebral conjunctiva. Tarsoconjunctival biopsy revealed intraepithelial squamous cell carcinoma. Management consisted of complete tumor excision with removal of the entire posterior lamella of the left upper eyelid and reconstruction. Histopathologic analysis confirmed primary squamous cell carcinoma arising from conjunctival epithelium, involving the underlying tarsus. Patients with unexplained chronic unilateral blepharoconjunctivitis or papillary hypertrophy of the palpebral conjunctiva should be considered for biopsy to rule out neoplasia, even when there is no sign of an evident mass.

Affective temperaments are associated with higher hopelessness and perceived disability in patients with open-angle glaucoma.

AIM: The aims of the study were to study: (i) affective temperaments in open-angle glaucoma (OAG) patients with some degree of functional visual impairment; (ii) psychological well-being and perceived disability, and their associations with affective temperaments; and (iii) associations between visual impairment, affective temperaments and psychological well-being. METHOD: Participants were 91 outpatients (39 women, and 52 men) with open-angle glaucoma (OAG) who were assessed for Visual Field Index, Mean Defect and Pattern Standard Deviation. Patients were also administered the Beck Hopelessness Scale, the TEMPS-A (Rome), the Gotland Male Depression Scale, the Emotional Well-being Scale, the Perceived Disability Questionnaire and the Suicidal History Self-Rating Screening Scale. RESULTS: Open-angle glaucoma patients (compared with a non-clinical sample of university students) had higher scores on the TEMP-A dysthimic and hyperthimic traits and lower scores on cyclothimic, irritability and anxiety traits. Such temperament variability was not linked to differences in severity of glaucoma. We did not find strong evidence supporting the fact that measures of visual impairment were linked to emotional well-being and depression. However, logistic regression analysis revealed that patients may have different patterns related to their illness according to specific temperaments. CONCLUSION: Patients with OAG may have different temperament profiles than non-clinical individuals. Such categorisation may be useful for predicting how they face the illness, for providing better care as well as for early recognition of mood disorders symptoms.

First Report of Sclerotinia Stem and Twig Blight Caused by Sclerotinia sclerotiorum on Citrus volkameriana Rootstock in Italy.

Volkamer lemon (Citrus volkameriana Ten. & Pasq., Rutaceae family) is the most commonly used rootstock for some ornamental citrus (oval kumquat and calamondin), improving the aesthetic quality of the plants and their marketable value. During the winter of 2011, symptoms of stem blight were observed on approximately 10% of 12,000 1-year-old potted C. volkameriana seedlings grown in different blocks in a commercial nursery near Catania (eastern Sicily, Italy). In the same nursery, only 1% of 15,000 older seedlings (2-year-old) showed disease symptoms. Initial symptoms included gray lesions on stems and occasionally on twigs. Later, buff lesions and gum exude appeared. Symptomatic stems and twigs were usually girdled and killed. In the lesions, irregular, dark gray sclerotia (1.0 to 5 × 1.0 to 7.0 mm, average 2.5 × 3.9 mm) were produced. In high relative humidity, cottony, white mycelia on the bark surface of infected tissues were also observed. Isolations were performed by transferring approximately 300 fragments of symptomatic tissues from 15 C volkameriana seedlings, surface-sterilized with 1% NaClO for 1 min, on potato dextrose agar (PDA) amended with 100 mg/liter of streptomycin sulfate. Sclerotinia sclerotiorum (Lib.) de Bary was recovered from all infected plants. Colony type, morphology, and dimensions of sclerotia were examined on PDA at 22 ± 1°C after 10 days in the dark. Sclerotia produced on PDA measured 2.0 to 7.0 × 1.5 to 4.0 mm (average 5.6 × 2.6 mm). DNA isolation was performed with the DNA Purification Kit (Puragene-Gentra, Minneapolis, MN) following the manufacturer's instructions. Amplification and sequencing of the internal transcribed spacer (ITS) region of rDNA was performed with primers ITS1/ITS4 (2). BLAST analysis of the 550-bp segment showed a 98% homology with S. sclerotiorum strain ms85 (GenBank Accession No HQ833450.1), thus confirming identification based on morphology. Koch's postulates were fulfilled by pathogenicity tests carried out on 20 1-year-old potted C. volkameriana seedlings. Each seedling was inoculated with five mycelial agar plugs (6 mm in diameter) and five sclerotia from the edge of 10-day-old colonies on PDA and placed in wounds made with a sterile blade in the bark of stem and twigs. Inoculated wounds (10 for each plant) were wrapped with Parafilm. The same number of control plants were wounded and inoculated with sterile PDA plugs. All inoculated plants were incubated in a growth chamber at 22°C with 80 to 90% relative humidity for 14 days. Blight symptoms and lesions on the stem and twigs identical to those observed in the nursery developed on all plants with both types of inoculum. Noninoculated control plants remained symptomless. S. sclerotiorum was reisolated from all symptomatic tissues and identified by morphology as previously described, completing Koch's postulates. To our knowledge, this is the first report of S. sclerotiorum stem and twig blight on C. volkameriana. Worldwide, Sclerotinia stem and twig blight is considered a minor disease on citrus (1), but this evidence suggests that in eastern Sicily, S. sclerotiorum may be an important pathogen of young C. volkameriana seedlings in nurseries. References: (1) J. A. Menge. Page 35 in: Compendium of Citrus Diseases. 2nd ed. The American Phytopathological Society, St. Paul, MN, 2000. (2) T. J.White et al. Page 315in: PCR Protocols: A Guide to Methods and Applications. M. A. Innis et al., eds. Academic Press, San Diego, 1990.

Disseminated Kaposi's sarcoma and HCV infection: only a casual relationship? A case report.

The authors present a case of disseminated Kaposi's sarcoma in a male patient, HIV negative and Hepatitis C virus (HCV) positive. Although it is well-known that in HCV positive patients the onset of cutaneous diseases such as porphyria cutanea tarda, mixed essential cryoglobulinemia, lichen planus, polyarteritis nodosa, itch/prurigo, is possible, papers on its association with disseminated Kaposi's sarcoma in HIV negative patients are rare in the literature. Such an association is probably not a matter of chance: in fact, the changes to the immune system induced by the HCV virus, in synergy with those induced by the Human Herpetic virus-8, could likewise play a role in the development of Kaposi's sarcoma as happens in patients with immunodeficiency .

Standard automated perimetry and algorithms for monitoring glaucoma progression.

Despite increasingly sophisticated techniques for the computerized analysis of the optic nerve and retinal nerve fiber layer, standard automated perimetry (SAP) is still the primary test for assessing functional damage in glaucoma. Most of the diseases affecting the visual field can be studied analyzing the central visual field with a fixed grid of points set at 6 degrees or at a variable density within central 30 degrees, using a III white target stimulus (program 30/2 or 24/2 Humphrey, G1/G2 or 30/2 Octopus). Although there is lack of a true gold standard for glaucoma, SAP results were the primary endpoint in most of the clinical trials in glaucoma. New thresholding strategies allowed a considerable reduction of examination time without substantial loss of accuracy. Moreover, recent findings on structure-function correlation in glaucoma validate the clinical role of this well-known and widespread method of examination.

Laser therapies for glaucoma: new frontiers.

Glaucoma is a long-term ocular neuropathy defined by optic disc or retinal nerve fiber structural abnormalities and visual-field defects. Treatment for glaucoma consists of reducing intraocular pressure (IOP) to an acceptable target range to prevent further optic-nerve damage. Currently available treatments include topical drug (single then multidrug combinations) followed, for those patients on maximal tolerated medical therapy who still need additional IOP reduction, by laser treatments. These included laser iridotomy, laser trabeculoplasty, laser iridoplasty, laser cyclophotocoagulation. Although the various types of laser enjoyed great success as glaucoma therapy for many years, recently the excimer laser trabeculotomy is a promising IOP-lowering technique.

An unique case of Y-type urethral duplication associated with posterior urethral valve.

This case report is about a 4-year-old patient with a IIA2 ''Y-type'' duplication, with the accessory urethra arising from the anterior orthotopic urethra and exiting in perineal-scrotal position, in association with posterior urethral valves (PUV). Cystourethroscopy through the ventral urethra revealed a type III urethral valve (diaphragm) and this was fulgurated. Duplicated dorsal urethra was excised surgically. Postoperative period was uneventful. This case is unique, because it shows PUV in a child with a very rare type of ''Y-type'' duplication. The presence of PUV in patients with urethral duplication is probably not an incidental finding but, to date, embryology of this rare association is not known.

Visual field damage and progression in glaucomatous myopic eyes.

PURPOSE: To make a visual field retrospective analysis on a group of patients with primary open angle glaucoma (POAG) and to evaluate whether different refractive errors could have different progression of the 30 degrees central sensitivity. METHODS: A total of 110 patients with POAG (52 men and 58 women) were included in the study. All the patients were divided into four subgroups based on the refractive error. The visual field of all the included patients was assessed by an Octopus 30 degrees central visual field every 6 months, for a total of 837 visual fields examined. The resulting data were analyzed by PERIDATA for Windows 1.7 TREND function. Mean defect (MD) and loss variance (LV) were considered for the analysis. RESULTS: At the first examination, 82% of eyes showed a global decrease of differential light sensitivity (MD >2 dB) and in 67% the distribution of the defect was nonhomogeneous (LV >6 dB). The analysis of variance for subgroups showed a more significant decrease of MD in highly myopic patients. A linear regression analysis highlighted a statistically significant change in time of MD in 36% and of LV in 34% of the eyes studied. Highly myopic patients had the highest (p<0.01) percentage of change of MD and LV (46% and 42%, respectively). Among the four subgroups, there was no difference in progression of MD decrease in time. CONCLUSIONS: These results showed that after 5 years of glaucoma, the visual field was altered in most of the eyes examined (82%) and that in 67% of cases, its defect was nonhomogeneous and worsened with the increase of myopia. The regression linear analysis of visual field changes in time showed a progressive increase of MD and LV in approximately one third of all the eyes examined.

[Endoscopic prosthetic treatment of the esophagojejunal leaks after total gastrectomy: clinical experience]. / Il trattamento endoscopico protesico delle fistole anastomotiche esofago-digiunali dopo gastrectomia totale per cancro dello stomaco: esperienza clinica.

The Authors, on the basis of their experience on the use of self-expanding prostheses in abdominal surgery, report on the use of these prostheses in two patients who, having undergone a gastrectomy for cancer, developed a fistula of the esophago-jejunal anastomosis. Given recent data from literature, using a prosthesis for an anastomotic fistula may be a valid alternative to a second operation, which, apart from obvious difficulties, has a high mortality rate in patients in weakened general health conditions. In these cases, after the application of a stent, excellent results can be obtained and, after some days, the patients can begin a semi-liquid diet, then proceeding to a semi-solid diet, improving quality of life; in addition, within a reasonable time span, after the healing of the fistula, the prosthesis can easily be removed by endoscopy.

Serum levels of interleukin 1beta, interleukin 8 and tumour necrosis factor alpha as markers of gastric cancer.

Despite the efforts made, a serum marker reliable for the screening and follow-up of patients with gastric cancer has not yet been identified. The aim of this preliminary study was to test the role of pro-inflammatory cytokines interleukin 1beta, interleukin 8 and tumour necrosis factor alpha in patients with gastric cancer and in control groups. The statistical analysis of cytokines serum levels in the group with gastric cancer versus control groups has shown considerable differences (p < 0.001) in their mean rates. The results indicate that the cytokines interleukin 1beta, interleukin 8 and tumour necrosis factor alpha might perhaps act as diagnostic markers in patients with gastric cancer. Therefore, it is hypothesized that after more extended trials, their use in the screening and prognostic assessment of these patients could be a possibility.

Hemorrhage from primitive rectal varices in patient with idiophatic thrombosis of portal vein: case report.

INTRODUCTION: Rectal varices, primitive or secondary to hypertensive or thrombotic disorders of mesenteric-portal circle, represent an uncommon cause of lower digestive bleeding. The presence of rectal varices associated to idiopathic venous portal thrombosis represents a distinct nosologic entity, with important clinical and therapeutic problems related to it. CASE REPORT: Patient of young age, with positive anamnesis for primitive rectal varices, admitted to our department for a serious recttorragy. The laboratory underlined moderate anaemia and the endoscopy documented the presence of multiple rectal varices, without evident signs of bleeding; the endoscopy documented the presence of two esophageal small varicose cords F1. The hepatobiliary sonography and the portography showed the massive thrombosis of the portal vein. The new serious episode of rectal bleeding induced us to subject the patient to a surgical operation of Hartmann recto-sigmoid resection. CONCLUSION: Because of the slight number of reported cases of primitive rectal varices and because of the scattering of many dates it is difficult to draw an univocal diagnostic and therapeutic algorithm. Clinical framing and subsequent therapeutic approach rise often up from personal experience rather than well defined guidelines. The treatment is controversial, time by time many therapeutic options are reported either conservative or interventionist. The failure of conservative therapy and the recurrent episodes of bleeding give indication to surgical treatment, that is represented by Hartmann colonic resection and/or the porto-systemic shunts in the cases of portal hypertension; in our case we made colonic resection sec. because of lapsed performing status of the patient.

Prevalence of blindness and low vision in an Italian population: a comparison with other European studies.

AIM: The scientific literature contains recent data on the prevalence of blindness and low vision for a few European countries, but most of these studies have been focused exclusively on the elderly sector of the populations. The purpose of the present study was to provide age-specific estimates of the prevalence and causes of visual loss in an Italian population aged 40 years and over. METHODS: In total, 847 of the 1,200 citizens >40 years of age (70.6%) in the island community of Ponza underwent complete standardized ophthalmological examinations. Visual acuity (VA) was measured using a standard logarithmic chart. World health organization (WHO) definitions of blindness and low vision were adopted (respectively, VA>1.3 logMAR or a visual field <10 degrees around central fixation, and VA >0.5 to 1.3 logMAR or a visual field <20 degrees around central fixation). Prevalence rates based on presenting VAs were also calculated. RESULTS: The overall best-corrected prevalence rates were 0.6% (presenting, 0.8%) for better eye blindness, 2.1% (presenting, 6.7%) for better eye low vision, 1.8% (presenting, 2.6%) for monocular blindness, 5.0% (presenting, 11.2%) for monocular low vision. Cataract, glaucoma, degenerative myopia, and AMD were the main causes of better eye visual loss. CONCLUSION: Age-specific prevalence rates in Ponza are fairly consistent with those for other European countries with similar socio-economic conditions and public healthcare systems. A substantial percentage of visual losses remains uncorrected despite the availability of potentially curative therapy. Greater emphasis needs to be placed on educating the public regarding the importance of good vision.

Acute gallstone cholecystitis in the elderly: treatment with emergency ultrasonographic percutaneous cholecystostomy and interval laparoscopic cholecystectomy.

BACKGROUND: The treatment of acute cholecystitis in the elderly is still a subject of debate, particularly with reference to the timing of surgery and the role of laparoscopy. PATIENTS: From January 1994 to June 2002 we observed 27 patients aged over 70 years with acute calcolous cholecystitis. The patients were submitted to ultrasonographic percutaneous cholecystostomy within 12 h of the acute attack. For two patients (7.4%) at high operative risk, we chose a conservative treatment. Twenty-five patients (92.6%) were submitted, in 15 cases (60%) within 5 days and in 10 patients (40%) within 8 days, to a laparoscopic cholecystectomy. Statistical significance was accepted when the value of p was less than 0.05. RESULTS: Ultrasonographic percutaneous cholecystostomy was performed successfully in all patients, without major morbidity or mortality, and complete resolution of clinical symptoms was obtained within 48 h. The conversion rate of laparoscopy was 20% (13.3% in patients submitted to surgery within 5 days and 30% in the group submitted within 8 days--p > 0.05). The postoperative morbidity rate was 24%; it was higher (40% versus 15%) in patients converted to laparotomy (p > 0.05); mortality was 4%. The period of hospitalization was 11 days in patients operated laparoscopically and 21 days in those converted to open cholecystectomy (p < 0.001). CONCLUSIONS: The more rational treatment of acute calcolous cholecystitis in elderly patients is represented by ultrasonographic percutaneous cholecystostomy followed, within 5 days, by laparoscopic cholecystectomy using an abdominal insufflation maximum to 12 mmHg and a limited 10-15 degrees head-up tilt.

Visual acuity in central and branch vein retinal occlusion in the presence of macular edema: 1 year of follow-up.

One year after laser treatment of 117 eyes with central or branch retinal vein occlusion in the presence of macular edema, visual acuity was equally improved in the central retinal vein occlusion laser-treated and branch retinal vein occlusion non-laser-treated eyes. We concluded that fluorangiographically evident ischemic areas or significant macular edema are indications for laser therapy, and that a poor long-term functional prognosis is always related to more severe macular damage at the onset.

[Caroli's disease: literature review and characteristics of a clinical case]. / La malattia di Caroli: revisione della letteratura e particolarità di un caso clinico.

The Author's report the case of the simple form of Caroli's disease, a rare malformation, and review literature pointing out the difficulty of an early diagnosis, because disease can be silent for a long time too and it is identified for complication. Today, imaging, endoscopy and interventionist radiology are the most valid tools for a correct diagnosis and treatment, above all in a case of emergency, when other therapeutic solutions are not possible.