Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report

Introduction: Hypomelanosis of Ito is a rare neurocutaneous disorder, characterized by streaks and swirls of hypopigmentation following the lines of Blaschko that may be associated to systemic abnormalities involving the central nervous system and musculoskeletal system. Despite the preponderance of reported sporadic hypomelanosis of Ito, few reports of familial hypomelanosis of Ito have been described. Case presentation: A 6-month-old Caucasian girl presented with unilateral areas of hypomelanosis distributed on the left half of her body and her father presented with similar mosaic hypopigmented lesions on his upper chest. Whereas both blood karyotypes obtained from peripheral lymphocyte cultures were normal, a 16% trisomy 2 mosaicism was found in cultured skinfibroblasts derived from a hypopigmented skin area of her father. Conclusions: Familial cases of hypomelanosis of Ito are very rare and can occur in patients without systemic involvement. Hypomelanosis of Ito constitutes a non-specific diagnostic definition including different clinical entities with a wide phenotypic variability, either sporadic or familial. Unfortunately, a large number of cases remain misdiagnosed due to both diagnostic challenges and controversial issues on cutaneous biopsies in the pediatric population

Reporting Recommendations for Tumor Marker Prognostic Studies (REMARK): Explanation and Elaboration

The REMARK “elaboration and explanation” guideline, by Doug Altman and colleagues, provides a detailed reference for authors on important issues to consider when designing, conducting, and analyzing tumor marker prognostic studies

Photometrische Bestimmung der Myeloperoxydase mittels p-Phenylendiamin

Peer Reviewe

Frühe Effekte nach systemischer und intravitrealer Bevacizumab (Avastin®)-Therapie bei neovaskulärer altersbedingter Makuladegeneration

Zusammenfassung ZIEL: Auswertung früher Behandlungseffekte nach systemischer und intravitrealer Bevacizumabtherapie bei Patienten mit neovaskulärer altersbedingter Makuladegeneration (AMD). PATIENTEN UND METHODEN: In einer prospektiven Kohortenstudie wurden 12 Augen mit neovaskulärer AMD mit systemischem Bevacizumab (5 mg/kg Körpergewicht) und 13 Augen mit intravitrealem Bevacizumab (1 mg) behandelt. Intravenöse Infusionen wurden 3-mal im Abstand von 2 Wochen, intravitreale Injektionen bis zu 3-mal im Abstand von 4 Wochen gegeben. Die Auswertung der Therapieeffekte erfolgte mittels best korrigiertem Visus und optischer Kohärenztomographie (OCT) vor Behandlungsbeginn, sowie nach 1, 4 und 12 Wochen. Eine Fluoreszeinangiographie (FA) wurde vor Behandlungsbeginn und nach 12 Wochen durchgeführt. ERGEBNISSE: Systemische und intravitreale Bevacizumab-Therapie bei neovaskulärer AMD zeigte Behandlungseffekte innerhalb einer Woche. Der mittlere Visus stieg nach einer Woche um 4,9 Buchstaben in der systemisch und um 6,9 Buchstaben in der intravitreal behandelten Patientengruppe an. Die zentrale Netzhautdicke (CRT) nahm entsprechend um 51,9 µm und 176,4 µm ab. Nach drei Monaten war ein bleibender Behandlungseffekt erkennbar. Der mittlere Visusgewinn betrug nach 3 Monaten in der systemisch behandelten Gruppe 11 Buchstaben und in der intravitreal behandelten Gruppe 8,3 Buchstaben. Entsprechend betrug die Abnahme der zentralen Netzhautdicke 100 µm und 153,8 µm. FA-dokumentierte Leckage war nach drei Monaten bei allen Patienten nicht nachweisbar oder deutlich reduziert. ZUSAMMENFASSUNG: Frühe Behandlungseffekte nach systemischer und intravitrealer Bevacizumab-Therapie scheinen vergleichbar. Beide Behandlungsgruppen zeigen eine Visusverbesserung und eine Abnahme der zentralen Netzhautdicke. Langzeitbeobachtungen sind erforderlich, um Sicherheit und Effektdauer beider Behandlungsmodalitäten zu beurteilen

Comparison of 2.5 mg/kg and 5 mg/kg systemic bevacizumab in neovascular age-related macular degeneration: twenty-four week results of an uncontrolled, prospective cohort study

Background: To compare safety, visual acuity (VA), and anatomic outcomes of 2.5 mg/kg and 5 mg/kg intravenous bevacizumab in patients with neovascular age-related macular degeneration. Methods: In an institutional cohort study, 16 patients (2 cohorts, 27 eyes) with neovascular age-related macular degeneration were treated with 5 mg/kg intravenous bevacizumab and 2.5 mg/kg, respectively. All patients received 3 initial intravenous infusions at 2-week intervals. The main outcome measures were VA, optical coherence tomography, and fluorescein angiography. Results: No serious systemic or ocular adverse events were identified. By Day 7, mean VA increased from 56 letters (20/80+1) at baseline to 60 letters (20/63) in the 5 mg/kg group and mean central retinal thickness decreased by 83 [mu]m. In the 2.5 mg/kg group, mean VA increased from 55 letters (20/80) to 66 letters (20/50+1) and mean central retinal thickness decreased by 93 [mu]m. By Month 3, VA improved by 10 letters compared to baseline in the 5 mg/kg group and by 9 letters in the 2.5 mg/kg group. Central retinal thickness was reduced by 128 [mu]m in the 5 mg/kg group and by 127 [mu]m in the 2.5 mg/kg group. These benefits were sustained through 6 months. No statistically significant difference was found between both treatment groups regarding safety, VA, and anatomic outcomes. Conclusion: Similar VA, optical coherence tomography, and angiographic improvements were observed in both treatment groups up to 6 months. Further follow-up is required to evaluate the long-term durability and safety of both treatment regimens