Neurofibromatosis type 1 association with moyamoya disease

The neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues. The neurofibromatoses are classified as neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). NF1 is the more common type of the neurofibromatoses. The gene responsible for NF1 is located on the chromosome region 17q11.2 and for familial moyamoya disease on chromosome 17q25. This article reports on a 20-year-old female with neurofibromatosis-1 who developed moyamoya syndrome. More extensive reports and further investigations of such families having this combination will certainly provide a better understanding of this link in the near future.     

Leukocyte DNA damage in children with iron deficiency anemia: effect of iron supplementation

Iron deficiency is frequently associated with anemia. Iron is a transition-metal ion, and it can induce free radical formation, which leads to formation of various lesions in DNA, proteins, and lipids. The aim of this study was to investigate baseline oxidative DNA damage and to clarify the role of the administration of a therapeutic dose of iron on DNA oxidation in children with iron deficiency anemia (IDA). Twenty-seven children with IDA and 20 healthy children were enrolled in the study. Leukocyte DNA damage (strand breaks and Fpg-sensitive sites) was assessed using comet assay before and after 12 weeks of daily iron administration. Before the iron administration, the frequency of DNA strand breaks in the children with IDA was found to be lower than those in the control group (P < 0.05), but there was not a significant difference for frequency of Fpg-sensitive sites. After 12 weeks of iron administration, the frequency of both DNA strand breaks and Fpg-sensitive sites were found to be increased (P < 0.01). No significant association was determined between DNA damage parameters and hemoglobin, hematocrit, serum iron, total iron binding capacity, and ferritin. In conclusion, basal level of DNA strand breaks is at a low level in children with IDA. After iron administration, DNA strand breaks and Fpg-sensitive sites, which represent oxidatively damaged DNA, increased. However, this increase was unrelated to serum level of iron and ferritin.     

Immediate and midterm follow-up results of using an electrodetachable, fully retrievable SOLO stent system in the endovascular coil occlusion of wide-necked cerebral aneurysms

OBJECT: Stent-assisted embolization is an alternative endovascular treatment method for wide-necked intracranial aneurysms. Currently available stents have the limitations of poor radial force, difficult delivery systems, and lack of full retrievability. The authors report on their preliminary experience with the use of a new, fully retrievable, self-expanding neurovascular stent, which has a high radial force and easy delivery system, combined with coil or Onyx embolization for the treatment of wide-necked aneurysms, including 6-month follow-up data. METHODS: Fifteen patients with 18 wide-necked intracranial aneurysms were treated using the SOLO stent system and detachable platinum coils. Aneurysms were located at the posterior communicating artery (seven lesions), midbasilar artery (one lesion), internal carotid artery (ICA) bifurcation (one lesion), ICA-ophthalmic artery segment (eight lesions), and posterior cerebral artery (one lesion). Eleven aneurysms were small, six were large, and one was giant. Only one of these aneurysms was in the acute stage of subarachnoid hemorrhage; balloon remodeling alone failed to keep the coils in the aneurysm sac. RESULTS: Only one stent required retrieving and repositioning after it had been fully deployed, and retrieval was easy and successful. No thromboembolic complication, dissection/rupture, or vasospasm occured during stent placement. Follow-up angiograms obtained at 6 months posttreatment in the 18 aneurysms demonstrated that all stents were patent with no evidence of intimal hyperplasia or stenosis. In all cases but one, 100% lesion occlusion was observed at the 6-month control angiography examination. Only one aneurysm had recanalized. CONCLUSIONS: The fully retrievable self-expandible SOLO stent is a feasible, secure, and effective system with a high radial force and ease of delivery in treating wide-necked intracranial aneurysms in combination with coil embolization.     

The efficacy of autologous serum eye drops for severe dry eye syndrome: a randomized double-blind crossover study

Background

To evaluate the efficacy of autologous serum (AS) eye drops for the symptomatic relief of severe dry eye syndrome (DES), as compared to conventional preservative-free artificial tears (PFAT).

Methods

This prospective double-blind randomized crossover study used the Ocular Surface Disease Index (OSDI), tear film break-up time (TBUT), Schirmer’s Test, and OXFORD Scale at baseline and after each of two 1-month treatment periods to measure the effect of 20 % diluted AS eye drops vs. PFAT in 20 consecutive severe DES patients that were refractory to conventional treatment.

Results

The study included 20 (18 female and two male) severe DES patients (40 eyes). Significantly higher TBUT (P?<?0.001, Wilcoxon signed-rank test) and a greater decrease in OSDI score (55.18 % decrease in the AS treatment group vs. 19.50 % decrease in the PFAT treatment group) (P?<?0.001, Student’s paired samples t-test) were observed in the AS treatment group after 1 month of treatment. There wasn’t a significant difference in Schirmer’s test and OXFORD conjunctival and corneal vital dying grading scores between the two treatment groups after 1 month of treatment (P?>?0.05 [Mann–Whitney U test]).

Conclusions

AS eye drops were more effective than conventional eye drops for improving tear film stability and subjective comfort in patients with severe DES.     

Performance of serum neurofilament light chain in a wide spectrum of clinical courses of amyotrophic lateral sclerosis—a cross-sectional multicenter study

Background and purpose

The objective was to assess the performance of serum neurofilament light chain (sNfL) in amyotrophic lateral sclerosis (ALS) in a wide range of disease courses, in terms of progression, duration and tracheostomy invasive ventilation (TIV).

Methods

A prospective cross-sectional study at 12 ALS centers in Germany was performed. sNfL concentrations were age adjusted using sNfL Z scores expressing the number of standard deviations from the mean of a control reference database and correlated to ALS duration and ALS progression rate (ALS-PR), defined by the decline of the ALS Functional Rating Scale.

Results

In the total ALS cohort (n = 1378) the sNfL Z score was elevated (3.04; 2.46–3.43; 99.88th percentile). There was a strong correlation of sNfL Z score with ALS-PR (p < 0.001). In patients with long (5–10 years, n = 167) or very long ALS duration (>10 years, n = 94) the sNfL Z score was significantly lower compared to the typical ALS duration of <5 years (n = 1059) (p < 0.001). Furthermore, in patients with TIV, decreasing sNfL Z scores were found in correlation with TIV duration and ALS-PR (p = 0.002; p < 0.001).

Conclusions

The finding of moderate sNfL elevation in patients with long ALS duration underlined the favorable prognosis of low sNfL. The strong correlation of sNfL Z score with ALS-PR strengthened its value as progression marker in clinical management and research. The lowering of sNfL in correlation with long TIV duration could reflect a reduction either in disease activity or in the neuroaxonal substrate of biomarker formation during the protracted course of ALS.     

Automated Adrenal Gland Disease Classes Using Patch-Based Center Symmetric Local Binary Pattern Technique with CT Images

Journal of Digital Imaging - Incidental adrenal masses are seen in 5% of abdominal computed tomography (CT) examinations. Accurate discrimination of the possible differential diagnoses has...     

Novel indole retinoid derivative induces apoptosis and cell cycle arrest and modulates AKT and ERK signaling in HL-60 cells

Chemotherapy with targeted drugs is the first line therapy option for acute and chronic myeloid leukemia. However, hematopoietic stem cell transplantation may be used in high-risk patients or patients with failed responses to chemo drugs. Discovery and development of more effective new agents with lower side effects is the main aim of leukemia treatment. In this study, a novel retinoid compound with tetrahydronaphthalene ring was synthesized and evaluated for anticancer activity in human chronic and acute myeloid leukemia cell lines K562 and HL-60. Novel N-(1H-indol-1-yl)-5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalene-2-carboxamide was synthesized based on molecular hybridization of the two different bioactive structures retinoid head and indole. The effects of the synthesized carboxamide compound, which was referred to as compound 5 , were determined in K562 chronic myeloid leukemia and HL-60 acute myeloid leukemia cell lines and L929 fibroblast cell line, which served as a control. Colorimetric MTT and caspase3 activity tests, flow cytometry, western blot, and microscopic examinations were used to evaluate biological activity. Compound 5 more effectively induced cell death in HL60 cells in comparison to K562 cells and L929 fibroblast cells. Therefore, further mechanism of cell death was investigated in HL60 cell line. It was found that compound 5 induced remarkable cytotoxicity, caspase3 activation, and PARP fragmentation in HL60 cells. Flow cytometric staining showed that the percentage of cells arrested in G0/G1 was also increased with compound 5 treatment. Important modulator proteins of cell proliferation p-ERK, p-AKT, and p-m-TOR were also found to be inhibited with compound 5 treatment. Collectively, our results reveal compound 5 , which is a novel indole retinoid compound as a potential active agent for the treatment of acute promyelocytic leukemia.