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Fulltext Comparative Evaluation of Two Different Post-Operative Analgesia after Hallux Valgus Correction in Day Surgery Patients

Galli M, Vergari A, Vitiello R, Nestorini R, Peruzzi M, Chierichini A, et al.

Malays Orthop J, 2020 Jul;14(2):57-63.
PMID: 32983378 DOI: 10.5704/MOJ.2007.013

Introduction: The aim of this study was the evaluation of two different techniques on post-operative analgesia and motor recovery after hallux valgus correction in one-day surgery patients.
Material and Methods: We enrolled 26 patients scheduled for hallux valgus surgery and treated with the same surgical technique (SCARF osteotomy). After subgluteal sciatic nerve block with a short acting local anaesthetic (Mepivacaine 1.5%, 15ml), each patient received an ultrasound-guided Posterior Tibialis Nerve Block (PTNB) with Levobupivacaine 0.5% (7-8ml). We measured the postoperative intensity of pain using a Visual Analogue Scale (VAS), the consumption of oxycodone after operative treatment and the motor recovery. VAS was detected at baseline (time 0, before the surgery) and at 3, 6, 12 and 24 hours after the operative procedure (T1, T2, T3, T4 respectively). Control group of 26 patients were treated with another post-operative analgesia technique: local infiltration (Local Infiltration Anaesthesia, LIA) with Levobupivacaine 0.5% (15ml) performed by the surgeon.
Results: PTNB group showed a significant reduction of VAS score from the sixth hour after surgery compared to LIA group (p<0.028 at T2, p<0.05 at T3 and p<0.002 at T4, respectively). Instead, no significant differences were found in terms of post-operative oxycodone consumption and motor recovery after surgery.Conclusions: PTNB resulted in a valid alternative to LIA approach for post-operative pain control due to its better control of post-operative pain along the first 24 hours. In a multimodal pain management according to ERAS protocol, both PTNB and LIA should be considered as clinically effective analgesic techniques.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients

Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, et al.

J Hum Genet, 2019 Dec;64(12):1173-1186.
PMID: 31530938 DOI: 10.1038/s10038-019-0667-4

Coffin-Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, intellectual disability, and hypoplasia of the fifth digit and nails. Pathogenic variants for CSS have been found in genes encoding proteins in the BAF (BRG1-associated factor) chromatin-remodeling complex. To date, more than 150 CSS patients with pathogenic variants in nine BAF-related genes have been reported. We previously reported 71 patients of whom 39 had pathogenic variants. Since then, we have recruited an additional 182 CSS-suspected patients. We performed comprehensive genetic analysis on these 182 patients and on the previously unresolved 32 patients, targeting pathogenic single nucleotide variants, short insertions/deletions and copy number variations (CNVs). We confirmed 78 pathogenic variations in 78 patients. Pathogenic variations in ARID1B, SMARCB1, SMARCA4, ARID1A, SOX11, SMARCE1, and PHF6 were identified in 48, 8, 7, 6, 4, 1, and 1 patients, respectively. In addition, we found three CNVs including SMARCA2. Of particular note, we found a partial deletion of SMARCB1 in one CSS patient and we thoroughly investigated the resulting abnormal transcripts.
Fulltext [Not Available]

Van Asbroeck S, Köhler S, van Boxtel MPJ, Lipnicki DM, Crawford JD, Castro-Costa E, et al.

Alzheimers Dement, 2024 Jun;20(6):3972-3986.
PMID: 38676366 DOI: 10.1002/alz.13846

INTRODUCTION: The LIfestyle for BRAin Health (LIBRA) index yields a dementia risk score based on modifiable lifestyle factors and is validated in Western samples. We investigated whether the association between LIBRA scores and incident dementia is moderated by geographical location or sociodemographic characteristics.
METHODS: We combined data from 21 prospective cohorts across six continents (N = 31,680) and conducted cohort-specific Cox proportional hazard regression analyses in a two-step individual participant data meta-analysis.
RESULTS: A one-standard-deviation increase in LIBRA score was associated with a 21% higher risk for dementia. The association was stronger for Asian cohorts compared to European cohorts, and for individuals aged ≤75 years (vs older), though only within the first 5 years of follow-up. No interactions with sex, education, or socioeconomic position were observed.
DISCUSSION: Modifiable risk and protective factors appear relevant for dementia risk reduction across diverse geographical and sociodemographic groups.
HIGHLIGHTS: A two-step individual participant data meta-analysis was conducted. This was done at a global scale using data from 21 ethno-regionally diverse cohorts. The association between a modifiable dementia risk score and dementia was examined. The association was modified by geographical region and age at baseline. Yet, modifiable dementia risk and protective factors appear relevant in all investigated groups and regions.
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, et al.

Mov Disord, 2023 Feb;38(2):286-303.
PMID: 36692014 DOI: 10.1002/mds.29288

BACKGROUND: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited.
OBJECTIVE: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD.
METHODS: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype-phenotype relationships were analyzed.
RESULTS: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published.
CONCLUSIONS: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clinical and genetic stratification of patients for gene-targeted clinical trials. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.