Persistently Vitreous Culture–Positive Exogenous Bacterial Endophthalmitis

PURPOSE: To report the clinical settings, bacterial isolates, antibiotic sensitivities, and visual outcomes of patients with persistently positive vitreous cultures after intravitreal antibiotics. DESIGN: Consecutive, non-comparative case series. METHODS: SETTING: Tertiary care center PATIENT POPULATION: 29 eyes of 29 patients with exogenous endophthalmitis with the same bacterial organism identified on at least two consecutive vitreous cultures OBSERVATION PROCEDURES: Vitreous culture with intravitreal injection of antibiotics and pars plana vitrectomy with intravitreal antibiotics MAIN OUTCOME MEASURES: Bacterial isolates, antibiotic sensitivities, visual outcomes RESULTS: Twenty-nine eyes of 29 patients met the study criteria. The mean follow-up was 28.7 months. The most common clinical settings were after cataract extraction (15/29, 51%) and glaucoma surgery (9/29, 31%). The mean initial visual acuity was 2.21 ± 0.74 logMAR (Snellen equivalent ≈20/3200), and there was no statistically significant change at the final evaluation (1.98 ± 1.1 logMAR, ≈20/1900, P = 0.32). The most common bacteria were Staphylococcus (10/29, 34%) and Streptococcus (7/29, 24%). Gram-positive bacteria were sensitive to vancomycin (22/22, 100%); Gram-negative bacteria were sensitive to amikacin (3/3, 100%). The antibiotic sensitivities were the same on repeat cultures in 25 of 27 patients (93%). The initial treatment was a vitreous tap and intravitreal injection of antibiotics in 22 of 29 patients (76%). The vision at the last follow-up was 20/200 or better in 11 patients (38%) and no light perception in 10 of 29 patients (34%). CONCLUSIONS: The most commonly identified organisms in the current series were Gram-positive bacteria. There was good concordance in the antibiotic sensitivities between initial and subsequent cultures. Patients with persistently vitreous culture-positive endophthalmitis had poor visual outcomes

A fine-grained data set and analysis of tangling in bug fixing commits

Abstract Context: Tangled commits are changes to software that address multiple concerns at once. For researchers interested in bugs, tangled commits mean that they actually study not only bugs, but also other concerns irrelevant for the study of bugs. Objectives: We want to improve our understanding of the prevalence of tangling and the types of changes that are tangled within bug fixing commits. Methods: We use a crowd sourcing approach for manual labeling to validate which changes contribute to bug fixes for each line in bug fixing commits. Each line is labeled by four participants. If at least three participants agree on the same label, we have consensus. Results: We estimate that between 17% and 32% of all changes in bug fixing commits modify the source code to fix the underlying problem. However, when we only consider changes to the production code files this ratio increases to 66% to 87%. We find that about 11% of lines are hard to label leading to active disagreements between participants. Due to confirmed tangling and the uncertainty in our data, we estimate that 3% to 47% of data is noisy without manual untangling, depending on the use case. Conclusions: Tangled commits have a high prevalence in bug fixes and can lead to a large amount of noise in the data. Prior research indicates that this noise may alter results. As researchers, we should be skeptics and assume that unvalidated data is likely very noisy, until proven otherwise

Baraitser-Winter cerebrofrontofacial syndrome: Delineation of the spectrum in 42 cases

Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1 that encode β- and γ-actins. We present detailed phenotypic descriptions and neuroimaging on 36 patients analyzed by our group and six cases from the literature with a molecularly proven actinopathy (9 ACTG1 and 33 ACTB). The major clinical anomalies are striking dysmorphic facial features with hypertelorism, broad nose with large tip and prominent root, congenital non-myopathic ptosis, ridged metopic suture and arched eyebrows. Iris or retinal coloboma is present in many cases, as is sensorineural deafness. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Nearly all patients with ACTG1 mutations, and around 60% of those with ACTB mutations have some degree of pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Reduction of shoulder girdle muscle bulk and progressive joint stiffness is common. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Progressive, severe dystonia was seen in one family. Intellectual disability and epilepsy are variable in severity and largely correlate with CNS anomalies. One patient developed acute lymphocytic leukemia, and another a cutaneous lymphoma, indicating that actinopathies may be cancer-predisposing disorders. Considering the multifaceted role of actins in cell physiology, we hypothesize that some clinical manifestations may be partially mutation specific. Baraitser-Winter cerebrofrontofacial syndrome is our suggested designation for this clinical entity

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1 that encode β- and γ-actins. We present detailed phenotypic descriptions and neuroimaging on 36 patients analyzed by our group and six cases from the literature with a molecularly proven actinopathy (9 ACTG1 and 33 ACTB). The major clinical anomalies are striking dysmorphic facial features with hypertelorism, broad nose with large tip and prominent root, congenital non-myopathic ptosis, ridged metopic suture and arched eyebrows. Iris or retinal coloboma is present in many cases, as is sensorineural deafness. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Nearly all patients with ACTG1 mutations, and around 60% of those with ACTB mutations have some degree of pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Reduction of shoulder girdle muscle bulk and progressive joint stiffness is common. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Progressive, severe dystonia was seen in one family. Intellectual disability and epilepsy are variable in severity and largely correlate with CNS anomalies. One patient developed acute lymphocytic leukemia, and another a cutaneous lymphoma, indicating that actinopathies may be cancer-predisposing disorders. Considering the multifaceted role of actins in cell physiology, we hypothesize that some clinical manifestations may be partially mutation specific. Baraitser-Winter cerebrofrontofacial syndrome is our suggested designation for this clinical entity