Activity

Several studies reported the importance of glenohumeral and scapular muscle activity and scapular kinematics in multidirectional shoulder instability (MDI), yet a systematic overview is currently lacking.

This systematic review evaluates and summarizes the evidence regarding muscle activity and shoulder kinematics in individuals with MDI compared to healthy controls.

The electronic databases PubMed and Web of Science were searched in September 2020 with key words regarding MDI (population), muscle activity, and glenohumeral and scapular movement patterns (outcomes). All studies that compared muscle activity or scapular kinematics between shoulders with MDI and healthy shoulders were eligible for this review, except for case reports and case series. All articles were screened on the title and abstract, and remaining eligible articles were screened on full text. The risk of bias of included articles was assessed by a checklist for case-control data, as advised by the Cochrane collaboration.

After full tivity and altered humeral and scapular kinematics in MDI individuals as compared with controls.

There is moderate evidence for altered muscle activity and altered humeral and scapular kinematics in MDI individuals as compared with controls.

Hereditary hyperferritinemia-cataract syndrome (HHCS) is an autosomal dominant disorder manifesting with high serum ferritin levels and the formation of early-onset cataracts, with numerous small opacities, predominantly in the lens cortex. HHCS is caused by mutations in the iron-responsive element of the FTL gene. The aim of this study was to establish a molecular diagnosis in three Czech probands with suspected HHCS.

A complex ocular and systemic evaluation, including ferritin and iron measurements, was performed. The 5′ untranslated region of FTL was directly sequenced in all available family members, followed by paternity testing in one family.

Three different FLT pathogenic variants (c.-161C>T, c.-167C>T, and c.-168G>C) present in the heterozygous state were detected in each of the 3 probands. Two segregated with the disease phenotype within the families, but c.-167C>T occurred de novo (confirmed by paternity testing). Prior to establishing molecular diagnosis, two probands were misdiagnosed with hemochromatosis. One individual, aged 43years, underwent phlebotomy; another, aged 8.5years, was treated with the iron chelator deferasirox, leading to life-threatening acute hyperammonemia, without severe liver injury.

Lack of family history does not exclude HHCS, because the pathogenic variant can arise de novo. Noncoding regions are often omitted from diagnostic gene panels, thus evading detection. Careful clinical evaluations and targeted genetic screening are important for avoiding potentially harmful treatments.

Lack of family history does not exclude HHCS, because the pathogenic variant can arise de novo. Noncoding regions are often omitted from diagnostic gene panels, thus evading detection. Careful clinical evaluations and targeted genetic screening are important for avoiding potentially harmful treatments.

Optic pathway gliomas associated with neurofibromatosis type 1 (NF1-OPGs) may adversely affect visual acuity, but data regarding visual field (VF) outcomes after treatment in children are limited. The purpose of this study was to investigate the effects of NF1-OPGs on VF function in a large cohort of children after treatment with chemotherapy.

We performed a retrospective, international, multicenter study of VF outcomes in patients treated with chemotherapy for NF1-OPGs.

A total of 25 participants underwent VF testing using formal perimetric techniques. At the end of treatment, 19 participants (76%) had persistent VF deficits. Formal VF testing was available for 16 participants (64%) at initiation and completion of treatment. Tacrolimus price Of the 16 children who underwent VF testing at initiation and completion of treatment, 7 (44%) showed stability of VF changes, 3 (19%) showed improvement of VF function, and 6 (38%) had worsening of VFs. Improvement or worsening of VF outcome did not always correlate with visual acuity outcome. Posterior tumor location involving the optic tracts and radiations was associated with more frequent and more profound VF defects.

In our study cohort, children undergoing initial chemotherapy for NF1-OPGs had a high prevalence of VF loss, which could be independent of visual acuity loss. A larger, prospective study is necessary to fully determine the prevalence of VF loss and the effects of chemotherapy on VF outcomes in children with NF1-OPGs.

In our study cohort, children undergoing initial chemotherapy for NF1-OPGs had a high prevalence of VF loss, which could be independent of visual acuity loss. A larger, prospective study is necessary to fully determine the prevalence of VF loss and the effects of chemotherapy on VF outcomes in children with NF1-OPGs.

To report the results of surgical treatment of glaucoma in patients with facial port wine mark at a single institution over a 10-year period.

The study was conducted on 21 eyes (10 right eyes) of 17 children (8 males) with glaucoma associated with facial port wine mark presenting to the pediatric ophthalmology practice at a single institution between January 2008 and December 2017. All study eyes underwent combined angle and filtering surgery with antimetabolite (mitomycin C) and were followed for 2years. Eyes were randomized for the angle component of the procedure to conventional trabeculotomy-trabeculectomy (CTT) or viscotrabeculotomy-trabeculectomy (VTT). Success was defined as intraocular pressure (IOP) of 5-16mm Hg with no vision-threatening complications.

Mean patient age was 17.4±7.5months. Mean IOP was 30.4±3.7mm Hg; mean corneal diameter, 12.4±0.5mm; mean axial length, 21.17±1.63mm; mean cupdisk ratio, 0.5±0.2; and mean number of IOP-lowering drugs at presentation, 2.6±0.5. At the end of the 2efits and slightly limit intra- and postoperative complications.

To develop and evaluate methods to assess single and grouped variables impact on measuring intervention severities and support a search for most expressive variables.

Datasets of cohort studies are analyzed automatically based on algorithms. For this, a metric is developed to compare measured variables in different cohorts in a data-mining process. Variables are measured in all possible combinations to detect possible synergies of certain variable constellations and allow for a ranking of the combinations’ expressiveness. Such ranking serves as a basis for a wide range of algorithmic data analysis. In an exemplary application, every group member’s impact on the total result is determined based on the principle of the cooperative game theory besides to the total expressiveness of the variable groups.

For different types of interventions, the method is applied to experimental data containing multiple recorded medical lab values. The expressiveness of variable combinations to indicate severity is ranked by means of a metric.