Vertical Macular Asymmetry Measures Derived From SD-OCT for Detection of Early Glaucoma.

PurposeTo test the hypothesis that vertical asymmetry in macular ganglion cell/inner plexiform layer (GCIPL) thickness can improve detection of early glaucoma.MethodsSixty-nine normal eyes and 101 glaucoma eyes had macular imaging with spectral-domain optical coherence tomography (OCT; 200 × 200 cube). The resulting GCIPL thickness matrix was grouped into a 20 × 20 superpixel array and superior superpixels were compared to their inferior counterparts. A global asymmetry index (AI) was defined as the grand mean of the asymmetry ratios. To measure local asymmetry, the corresponding thickness measurements of three rows above and below the horizontal raphe were compared individually and in combinations. Global and local AIs were compared to the best-performing GCIPL thickness parameters with area under the receiver operating curves (AUC) and sensitivity/specificities.ResultsAge or axial length did not influence AIs in normal subjects (P ≥ 0.08). Global and local AIs were significantly higher in the glaucoma group compared to normal eyes. Minimum (AUC = 0.962, 95% confidence interval [CI]: 0.936-0.989) and inferotemporal thickness (AUC = 0.944, 95% CI: 0.910-0.977; P = 0.122) performed best for detection of early glaucoma. The AUC for global AI was 0.851 (95% CI: 0.792-0.909) compared to 0.916 (95% CI: 0.874-0.958) for the best local AI. Combining minimum or inferotemporal GCIPL thickness and the best local AI led to higher partial AUCs (0.088 and 0.085, 90% specificity, P = 0.120 and 0.130, respectively) than GCIPL thickness measures.ConclusionsMacular vertical thickness asymmetry measures did not perform better than sectoral or minimum GCIPL thickness for detection of early glaucoma. Combining local asymmetry parameters with the best sectoral GCIPL thickness measures enhanced this task

Demonstration of astrocytes in cultured amniotic fluid cells of three cases with neural-tube defect

We have investigated the origin of rapidly adhering (RA) cells in three cases of neural tube defects (two anencephali, one encephalocele). We were able to demonstrate the presence of glial fibrillary acidic (GFA) protein in variable percentages (4–80%) of RA cells cultured for 4–6 days by use of indirect immunofluorescence with GFA antiserum. Cells cultured from amniotic fluids of normal pregnancies and fetal fibroblasts were completely GFA protein negative. GFA protein is well established as a highly specific marker for astrocytes. Demonstration of astrocytes may prove to be a criterion of high diagnostic value for neural tube defects. The percentage of astrocytes decreased with increasing culture time, while the percentage of fibronectin positive cells increased both in amniotic fluid cell cultures from neural tube defects and normal pregnancies

Chondromyxoid fibroma management: a single institution experience of 22 cases

Background: Several different strategies have been reported for the treatment of chondromyxoid fibromas, all with variable outcomes and high recurrence rates. Methods: We report on 22 consecutive cases of chondromyxoid fibromas treated by intralesional curettage, four of which had adjuvant cementation at our institution between 2003 and 2010. We assessed the functional outcome using the Musculoskeletal Tumour Society (MSTS) scoring system. Results: Nine males and 16 females with a mean age of 36.5 years (range 11 to 73) and a mean follow-up of 60.7 months were included in the study. Local recurrence occurred in two patients (9%) within the first 2 years following the index procedure. This was treated by re-curettage only of the residual defect. Two postoperative complications occurred: a superficial wound infection in one patient and a transient deep peroneal nerve neurapraxia in the other. The mean postoperative MSTS score was 96.7%. Conclusions: Intralesional curettage and cementation is as an effective treatment strategy for chondromyxoid fibromas, providing satisfactory functional results with a low recurrence rate. Careful case selection with stringent clinical and radiographic follow-up is recommended

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts

Acknowledgements We sincerely thank the patients and family members who participated in this study. We would also like to thank Stefan Esher, Umeå University, for help with genealogy, and Anna Westerlund for excellent technical assistance. This work was supported by grants from the FOU, at the Umeå university hospital, and the Medical Faculty at Umeå University. The work at University of Gothenburg was supported by grants from The Swedish Research Council, the Swedish Rheumatism Association, the Royal 80-Year Fund of King Gustav V, ALF/LUA research grant from Sahlgrenska University Hospital in Gothenburg and the Lundberg Foundation. The work at the University of Gothenburg and the University of Aberdeen was supported by Euroclast, a Marie Curie FP7-People-2013-ITN: # 607446.Peer reviewedPublisher PD

Biliary ascariasis from a rural setting: a case study.

Ascariasis is a common helminthic infestation in Malaysia, particularly in rural settings. Ascariasis lumbricoides normally lives in the upper small bowel without causing symptoms. Complications arise when these worms migrate into the bile duct (biliary ascariasis). A case of biliary ascariasis presenting as biliary colic is described. Patient presented with 2 days duration of right upper quandrant pain at the district hospital. Initial investigations were suggestive of acute cholecystitis and patient was treated with empirical antibiotics. However, due to worsening symptoms, she was transferred to the nearest tertiary setting. The diagnosis of helminthic biliary infestation was established using both ultrasound of the hepatobiliary system (HBS), CT-Scan abdomen and endoscopic retrograde cholangiopancreatography (ERCP). Endoscopic removal of the worm led to rapid resolution of symptoms and patient was discharged home well

Fetal MRI : an essential step in interpreting complex ultrasound findings

Background: Fetal magnetic resonance imaging (MRI) allows for the interpretation of complex fetal anomalies detected on ultrasound (US). Locally it has been available since 2013 but has remained underused. Method: In this paper we report the US and MRI findings of all cases of fetal MRI that were taken to date locally and how MRI can contribute to the clarification of malformations, management, counseling, evaluation of prognosis and ruling out of other possible malformations. Results: The cases reported were: two cases of hydroureter; gastroschisis; ventriculomegaly; intracranial haemorrhage; splenic cyst; Arnold Chiari II malformation. In all seven cases MRI was able to add to or change the diagnosis. Conclusion: Fetal MRI acts as an adjunct to US in interpreting abnormal fetal development. It is a safe non-invasive method of imaging that allows the clinician to take more informed decisions and better parental counselling.peer-reviewe

Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients

Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes. To increase OI disease knowledge and contribute to patient follow-up management, a homogeneous Italian cohort of 364 subjects affected by OI types I-IV was evaluated. The study population was composed of 262 OI type I, 24 type II, 39 type III, and 39 type IV patients. Three hundred and nine subjects had a type I collagen affecting function mutations (230 in α1(I) and 79 in α2(I)); no disease-causing changes were noticed in 55 patients. Compared with previous genotype-phenotype OI correlation studies, additional observations arose: a new effect for α1- and α2-serine substitutions has been pointed out and heart defects, never considered before, resulted associated to quantitative mutations (P = 0.043). Moreover, some different findings emerged if compared with previous literature; especially, focusing the attention on the lethal form, no association with specific collagen regions was found and most of variants localized in the previously reported "lethal clusters" were causative of OI types I-IV. Some discrepancies have been highlighted also considering the "50-55 nucleotides rule," as well as the relationship between specific collagen I mutated region and the presence of dentinogenesis imperfecta and/or blue sclera. Despite difficulties still present in defining clear rules to predict the clinical outcome in OI patients, this study provides new pieces for completing the puzzle, also thanks to the inclusion of clinical signs never considered before and to the large number of OI Italian patients

A case report of vanishing bile duct syndrome after exposure to pexidartinib (PLX3397) and paclitaxel.

Pexidartinib (PLX3397) is a small molecule tyrosine kinase and colony-stimulating factor-1 inhibitor with FDA breakthrough therapy designation for tenosynovial giant-cell tumor, and currently under study in several other tumor types, including breast cancer, non-Hodgkin's lymphoma, and glioblastoma. Here, we report a case of severe drug-induced liver injury requiring liver transplantation due to vanishing bile duct syndrome (VBDS) after exposure to pexidartinib in the I-SPY 2 Trial, a phase 2 multicenter randomized neoadjuvant chemotherapy trial in patients with Stage II-III breast cancer. We also review the current literature on this rare, idiosyncratic, and potentially life-threatening entity

An On-line BIST RAM Architecture with Self Repair Capabilities

The emerging field of self-repair computing is expected to have a major impact on deployable systems for space missions and defense applications, where high reliability, availability, and serviceability are needed. In this context, RAM (random access memories) are among the most critical components. This paper proposes a built-in self-repair (BISR) approach for RAM cores. The proposed design, introducing minimal and technology-dependent overheads, can detect and repair a wide range of memory faults including: stuck-at, coupling, and address faults. The test and repair capabilities are used on-line, and are completely transparent to the external user, who can use the memory without any change in the memory-access protocol. Using a fault-injection environment that can emulate the occurrence of faults inside the module, the effectiveness of the proposed architecture in terms of both fault detection and repairing capability was verified. Memories of various sizes have been considered to evaluate the area-overhead introduced by this proposed architectur