Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.

Neurofibromatosis type 1 (NF-1) microdeletion syndrome accounts for 5 to 11% of individuals with NF-1. The aim of our study was to characterize a large cohort of individuals with NF-1 microdeletion syndrome and expand its natural history. We conducted a retrospective chart review from 1994 to 2024 of individuals with NF-1 microdeletion syndrome followed at two large Neurofibromatosis Clinics. This cohort consists of 57 individuals with NF-1 microdeletion syndrome (28 type-1, 4 type-2, 2 type-3, 9 atypical deletions, and 14 indeterminate). We note 38/56 (67.9%) with describable facial features, 25/57 (43.8%) with plexiform neurofibromas, and 3/57 (5.2%) with malignant peripheral nerve sheath tumors within the observed period. The most reported neurodevelopmental manifestations from school-age or older individuals included 39/49 (79.6%) with developmental delays, 35/49 (71.4%) with expressive and/or receptive speech delays, 33/41 (80.5%) with learning difficulties, and 23/42 (54.8%) with attention-deficit/hyperactivity disorder. Full-scale IQ testing data was available for 22 individuals (range: 50-96). Of the 21 adults in this cohort, 14/21 (66.7%) graduated from high school, and 4/21 (19.0%) had some college experience. Many individuals received academic support (i.e., special education, individual education plan). In this cohort, neurocognitive outcomes in adults varied more than typically reported in the literature.

Dandy-Walker malformation in an individual with ABL1 variant.

Dandy-Walker malformation (DWM) is often sporadic, but there are a growing number of genetic disorders that have been associated with this condition. We present a female individual with a de novo variant in ABL1, c.734A>G (p.Y245), who was diagnosed prenatally with DWM. ABL1-related neurodevelopmental disorder was recently identified but brain malformations have not been well characterized to date. We reviewed the published literature and identified one additional individual with DWM and ABL1-related disorder, which suggests a possible association with this malformation.

High Efficiency Mercury Sorption by Dead Biomass of Lysinibacillus Sphaericus-New Insights into the Treatment of Contaminated Water.

Mercury (Hg) is a toxic metal frequently used in illegal and artisanal extraction of gold and silver which makes it a cause of environmental poisoning. Since biosorption of other heavy metals has been reported for several Lysinibacillus sphaericus strains, this study investigates Hg removal. Three L. sphaericus strains previously reported as metal tolerant (CBAM5, Ot4b31, and III(3)7) were assessed with mercury chloride (HgCl2). Bacteria were characterized by scanning electron microscopy coupled with energy dispersive spectroscopy (EDS-SEM). Sorption was evaluated in live and dead bacterial biomass by free and immobilized cells assays. Hg quantification was achieved through spectrophotometry at 508 nm by reaction of Hg supernatants with dithizone prepared in Triton X-114 and by graphite furnace atomic absorption spectroscopy (GF-AAS). Bacteria grew up to 60 ppm of HgCl2. Non-immobilized dead cell mixture of strains III(3)7 and Ot4b31 showed a maximum sorption efficiency of 28.4 µg Hg/mg bacteria during the first 5 min of contact with HgCl2, removing over 95% of Hg. This process was escalated in a semi-batch bubbling fluidized bed reactor (BFB) using rice husk as the immobilization matrix leading to a similar level of efficiency. EDS-SEM analysis showed that all strains can adsorb Hg as particles of nanometric scale that can be related to the presence of S-layer metal binding proteins as shown in previous studies. These results suggest that L. sphaericus could be used as a novel biological method of mercury removal from polluted wastewater.

Benefit, risk and cost of new oral anticoagulants and warfarin in atrial fibrillation; A multicriteria decision analysis.

INTRODUCTION: Warfarin and new oral anticoagulants are effective in reducing stroke in atrial fibrillation; however, the benefits and risks rates in clinical trials show heterogeneity for each anticoagulant, and is unknown the cost influence on a model considering most of the treatment consequences. We designed a benefit-risk and cost assessment of oral anticoagulants. DESIGN: We followed the roadmap proposed by IMI-PROTECT and the considerations of emerged good practice to perform Multi-Criteria Decision Analysis (MCDA). The roadmap defines the following steps: (1) planning, (2) evidence gathering and data preparation, (3) analyses, (4) explorations, and (5) conclusions. We defined two reference points (0-100) to allocate numerical values for scores and weights, and used an analogue numeric scale to assess physicians' preferences. As benefits of the anticoagulant therapy, we included reductions in stroke and all-cause mortality; intracranial haemorrhage, gastrointestinal haemorrhage, minor bleeding and myocardial infarction were considered risks. We also made an estimation of the annual drug cost per person. MAIN RESULTS: The scores were: Apixaban 33, Dabigatrán 25, warfarin 18 and Rivaroxaban 14 this score reveals the most preferred up to the less preferred option, considering the benefit-risk ratio and drug costs altogether. The relative model weights were: 51.1% for risks, 40.4% for benefits and 8.5% for cost. The sensitivity analysis confirms the model robustness. CONCLUSIONS: From this analysis, apixaban should be considered as the preferred anticoagulant option -due to a better benefit-risk balance and a minor cost influence- followed by dabigatran, warfarin and rivaroxaban.