Anatomic and functional outcome after 23-gauge vitrectomy, peeling, and intravitreal triamcinolone for idiopathic macular epiretinal membrane.

PURPOSE: To report both the functional and anatomic outcome and safety profile of 23-gauge pars plana vitrectomy combined with membrane peeling and intravitreal injection of triamcinolone acetonide in eyes with idiopathic macular epiretinal membranes. METHODS: Retrospective study of 39 consecutive patients who underwent 23-gauge transconjunctival sutureless vitrectomy, membrane peeling, and intravitreal triamcinolone acetonide injection for an idiopathic macular epiretinal membrane between February 2007 and February 2008. Minimum follow-up was 6 months. RESULTS: Thirty-nine eyes of 39 patients were included in the study. The mean follow-up was 7 +/- 2.2 months (range, 6-15 months). Twenty-two eyes (56%) were pseudophakic and 17 (44%) were phakic at the time of surgery. Five of the phakic eyes (29.4%) had worsening of cataracts during the follow-up period. Mean preoperative intraocular pressure was 14 +/- 3.5 mmHg. At the final follow-up, mean intraocular pressure was 14.5 +/- 2.7 mmHg, which did not differ significantly from the intraocular pressure at baseline (P = 0.14, two-tailed t-test). Five (13%) patients needed topical antiglaucoma treatment. Mean preoperative best-corrected visual acuity (BCVA) was 0.28 decimal equivalent (20/71 Snellen equivalent; logarithm of the minimum angle of resolution 0.54 +/- 0.2, range: 1.0-0.2) and improved significantly (P < 0.0001, two-tailed t-test) to a mean of 0.6 decimal equivalent (20/33 Snellen equivalent; logarithm of the minimum angle of resolution 0.22 +/- 0.16, range: 0.6-0) at the final follow-up. The BCVA improved by a mean of 3.2 +/- 2.1 lines (range: 0-8). Twenty-nine patients (74%) demonstrated a gain of > or =3 lines. Mean central macular thickness was 456 +/- 77 microm (mean +/- SD) at baseline, which was significantly reduced at the final follow-up to 327 +/- 79 microm (mean +/- SD; P < 0.0001, two-tailed t-test). Average central macular thickness reduction was 131 +/- 77 microm (mean +/- SD; range: 36-380 microm). A subgroup analysis of 15 selected cases, which had central macular thickness and BCVA measurements after the first postoperative week, demonstrated that 84% of the total final reduction in central macular thickness and 84% of the total final improvement in BCVA occurred already during the first postoperative week. CONCLUSION: Twenty-three-gauge sutureless transconjunctival vitrectomy is a safe and effective technique for the treatment of idiopathic macular epiretinal membranes. The concomitant administration of intravitreal triamcinolone acetonide after pars plana vitrectomy may speed up and improve the anatomic and functional outcome.

Oesophageal atresia: prevalence, prenatal diagnosis and associated anomalies in 23 European regions.

OBJECTIVE: To describe prevalence, prenatal diagnosis and epidemiological data on oesophageal atresia from 23 well-defined European regions and compare the prevalence between these regions. DESIGN: Population-based study using data from a large European database for surveillance of congenital anomalies (EUROCAT) for two decades (1987-2006). SETTINGS: Twenty-three participating registries based on multiple sources of information including information about live births, fetal deaths with gestational age ≥20 weeks and terminations of pregnancy. PATIENTS: 1222 cases of oesophageal atresia in a population of 5 019 804 births. RESULTS: The overall prevalence was 2.43 cases per 10 000 births (95% CI 2.30 to 2.57). There were regional differences in prevalence ranging from 1.27 to 4.55. Prenatal detection rates varied by registry from >50% of cases to <10% of cases. A total of 546 cases (44.7%) had an isolated oesophageal anomaly, 386 (31.6%) were multiple malformed and 290 (23.7%) had an association or a syndrome. There were 1084 live born cases (88.7%), 43 cases were fetal deaths and 95 cases were terminations of pregnancy. One-week survival for live births was 86.9% and 99.2% if the gestational age was ≥38 weeks and isolated oesophageal atresia was present. Males accounted for 57.3% of all cases and 38.5% of live born cases were born with gestational age <37 weeks. CONCLUSION: There were regional differences in prevalence of oesophageal atresia in Europe. Half of all cases had associated anomalies. Prenatal detection rate increased from 26% to 36.5% over the two decades. Survival in infants with isolated oesophageal atresia born at term is high.

Combination of trastuzumab and letrozole after resistance to sequential trastuzumab and aromatase inhibitor monotherapies in patients with estrogen receptor-positive, HER-2-positive advanced breast cancer: a proof-of-concept trial (SAKK 23/03).

A sequential treatment design was chosen in this trial to ensure complete resistance to single-agent non-steroidal aromatase inhibitor (AI) and trastuzumab both given as monotherapy before receiving the combination of a non-steroidal AI and trastuzumab. Key eligibility criteria included postmenopausal patients with advanced, measurable, human epidermal growth factor receptor-2 (HER-2)-positive disease (assessed by FISH, ratio (≥2)), hormone receptor (HR)-positive disease, and progression on prior treatment with a non-steroidal AI, e.g. letrozole or anastrozole, either in the adjuvant or in the advanced setting. Patients received standard dose trastuzumab monotherapy in step 1 and upon disease progression continued trastuzumab in combination with letrozole in step 2. The primary endpoint was clinical benefit rate (CBR) in step 2. Totally, 13 patients were enrolled. In step 1, six patients (46%) achieved CBR. Median time to progression (TTP) was 161 days (95% confidence interval (CI): 82-281). In step 2, CBR was observed in eight out of the 11 evaluable patients (73%), including one patient with partial response. Median TTP for all the 11 patients was 188 days (95% CI: 77-not reached). Results of this proof-of-concept trial suggest that complete resistance to both AI and trastuzumab can be overcome in a proportion of patients by combined treatment of AI and trastuzumab, as all patients served as their own control. Our results appear promising for a new treatment strategy that offers a chemotherapy-free option for at least a subset of patients with HR-positive, HER-2-positive breast cancer over a clinically relevant time period.

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

Interstitial deletions of 7q11.23 cause Williams-Beuren syndrome, one of the best characterized microdeletion syndromes. The clinical phenotype associated with the reciprocal duplication however is not well defined, though speech delay is often mentioned. We present 14 new 7q11.23 patients with the reciprocal duplication of the Williams-Beuren syndrome critical region, nine familial and five de novo. These were identified by either array-based MLPA or by array-CGH/oligonucleotide analysis in a series of patients with idiopathic mental retardation with an estimated population frequency of 1:13,000-1:20,000. Variable speech delay is a constant finding in our patient group, confirming previous reports. Cognitive abilities range from normal to moderate mental retardation. The association with autism is present in five patients and in one father who also carries the duplication. There is an increased incidence of hypotonia and congenital anomalies: heart defects (PDA), diaphragmatic hernia, cryptorchidism and non-specific brain abnormalities on MRI. Specific dysmorphic features were noted in our patients, including a short philtrum, thin lips and straight eyebrows. Our patient collection demonstrates that the 7q11.23 microduplication not only causes language delay, but is also associated with congenital anomalies and a recognizable face.

Pseudophakic Retinal Detachment Surgery by 23 G Vitrectomy using Slit-Lamp and Non-Contact 90 D Lens.

Background: The purpose of this study is to report the anatomic and functional results of primary 23 G vitrectomy using slit-lamp and non-contact 90 D lens for the treatment of pseudophakic rhegmatogenous retinal detachment. Patients and Methods: Pseudophakic eyes were operated by 23 G vitrectomy using slit-lamp and non-contact 90 D lens, internal subretinal fluid drainage, cryopexy and internal gas tamponade. The preoperative and postoperative characteristics were analysed. Main outcome measures were anatomic success rates after initial surgical intervention and after reoperation for primary failures, visual outcome at the last follow-up visit, and complications. Results: 46 pseudophakic eyes were included in this retrospective study (October 2013- January 2014). In 40 cases, sulfur hexafluoride 23 % gastamponade was used, silicone oil in 6 cases (13 %). The retina was reattached successfully after a single surgery in 44 eyes (96 %). Recurrence of retinal detachment occurred in 2 eyes. Final anatomic reattachment was obtained in 100 % after a second operation. Silicone oil was removed in all eyes. Visual acuity improved significantly from logMAR 0 (IQR 0 - 0.9) to logMAR 0 (IQR 0 - 0.2) (p < 0.005). Conclusions: Primary 23 G vitrectomy using slit-lamp and non contact 90 D lens for the treatment of pseudophakic rhegmatogenous retinal detachment provides a high anatomic and functional success rate and is associated with few complications.

Meeting highlights of the 8th Annual Scientific Sessions of the Society For Cardiovascular Magnetic Resonance, January 21 to 23, 2005.

Parallel tracks for clinical scientists, basic scientists, and pediatric imagers was the novel approach taken for the highly successful 8th Annual Scientific Sessions of the Society for Cardiovascular Magnetic Resonance, held in San Francisco, California, January 21 to 23, 2005. Attendees were immersed in information on the latest scientific advances in cardiovascular magnetic resonance (CMR) from mice to man and technological advances from systems with field strengths from 0.5 T to 11.7 T. State-of-the-art applications were reviewed, spanning a wide range from molecular imaging to predicting outcome with CMR in large patient populations.

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life. At least half of IS cases are idiopathic in origin, with others presumed to arise because of brain insult or malformation. Here, we identify a locus for IS by high-resolution mapping of 7q11.23-q21.1 interstitial deletions in patients. The breakpoints delineate a 500 kb interval within the MAGI2 gene (1.4 Mb in size) that is hemizygously disrupted in 15 of 16 participants with IS or childhood epilepsy, but remains intact in 11 of 12 participants with no seizure history. MAGI2 encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the stargazer mouse.