Nevin Manimala

Epilepsia Open. 2025 Jun 21. doi: 10.1002/epi4.70078. Online ahead of print.

ABSTRACT

OBJECTIVE: This study aimed to evaluate the efficacy and safety of adjunctive, highly purified Cannabidiol (Epidiolex®) in individuals with drug-resistant epilepsy (DRE) due to genetically determined typical Rett Syndrome (RTT) and CDKL5 Deficiency Disorder (CDD).

METHODS: We recruited subjects with genetically confirmed typical RTT and CDD with drug-resistant seizures who received add-on treatment with highly purified Cannabidiol (CBD) through a national collaboration group. CBD treatment was titrated from 5 to 20 mg/kg/day; concurrent antiseizure medications (ASMs) could have been adjusted as clinically indicated.

RESULTS: We enrolled 27 subjects (26 females), carrying a MECP2 genetic variant (14 subjects, 51.9%) or a CDKL5 genetic variant (13 subjects, 48.1%). Median age [IRQ] of individuals was 10.5 [7.9, 18.5] years. The median dose of CBD [IRQ] at last follow-up was 15 [11.12, 18.8] mg/kg/day, in association with a mean of 3 ASMs (range 2-4). The median duration of treatment was 14 [8.5, 20] months. Although not reaching a significant statistical effect, CBD reduced the incidence of seizures with respect to the baseline in 18/27 (66.6%) subjects, with 7 (25.9%) showing a seizure reduction >75%, and 11 (40.7%) >50%. The most relevant adverse events were somnolence seen in 3 subjects, irritability/agitation in 2 subjects, loss of appetite in 2 subjects, and insomnia in 1 individual. Caregivers reported an improvement in attention and reactivity in 12 subjects (44.4%), in sleep quality in 5 subjects (18.5%), and in motor aspects in 3 patients (11.1%).

SIGNIFICANCE: CBD resulted effective in reducing seizure frequency in 66.6% of the study sample, regardless of the pathogenic variant; side effects were mild, and caregivers reported an improvement in behavioral and motor features.

PLAIN LANGUAGE SUMMARY: This study explored the use of highly purified Cannabidiol (CBD, Epidiolex®) as an add-on therapy for individuals with drug-resistant epilepsy due to Rett Syndrome (RTT) or CDKL5 Deficiency Disorder (CDD). Twenty-seven participants received CBD alongside their usual ASMs. After a median treatment duration of 14 months, 66.6% experienced fewer seizures, with some showing over 75% reduction. Side effects were generally mild, mainly sleepiness or irritability. Notably, caregivers reported improvements in attention, responsiveness, sleep, and motor function. While results were not statistically significant, they suggest CBD may benefit seizure control and quality of life in RTT and CDD patients.

PMID:40543048 | DOI:10.1002/epi4.70078

Disabil Rehabil Assist Technol. 2025 Jun 21:1-15. doi: 10.1080/17483107.2025.2522784. Online ahead of print.

ABSTRACT

Pressure injuries (PI) pose a significant risk for individuals with spinal cord injuries. While clinical guidelines recommend periodic pressure redistribution (PR), adherence is often low due to limited real-time monitoring and feedback. In this paper, we present an Android application, integrated with a machine learning-based posture prediction algorithm to enhance real-time monitoring and feedback in a smart seat cushion (SSC) system for wheelchair users. Data from 12 healthy non-wheelchair participants in nine seating postures were collected. Five deep leaning architectures – Multi-Layer Perceptron (MLP), Convolutional Neural Network (CNN), Long Short-Term Memory (LSTM), CNN-LSTM, and Multi-Headed Attention models were trained, and their test performances were compared. An Android application was then developed with Flutter for on-device deployment. The highest performing model (LSTM) was then integrated using TensorFlow Lite to enable real-time posture prediction. We found that LSTM gives an accuracy of 92%, outperforming the other architectures. Also, the Android app was tested on a Google Pixel tablet, which can successfully control seat cushion operations wirelessly, identify user’s seating postures, visualize live pressure maps, generate statistics of user’s seating habits and weight shifting maneuvers, as well as provide guidance during pressure relief protocols to improve adherence. The proposed system provides a solution to low adherence to weight shift protocols observed in other studies by providing a live pressure map view and real-time feedback, thereby promoting consistent PR practice. This innovation represents a significant advancement in the prevention of PI and supports improved user compliance with clinical guidelines.

PMID:40543032 | DOI:10.1080/17483107.2025.2522784

Dermatol Ther (Heidelb). 2025 Jun 21. doi: 10.1007/s13555-025-01464-5. Online ahead of print.

ABSTRACT

INTRODUCTION: Although skin diseases are a significant public health concern, epidemiological data for Poland is still lacking. This study aimed to fill this scientific gap by analyzing the prevalence of skin diseases and associated risk factors in the Polish population.

METHODS: A cross-sectional study was conducted using data from the National Healthy Skin Test (2023), an online questionnaire distributed via the Medonet health platform, involving 27,000 adult Polish internet users. Participants self-reported physician-diagnosed skin conditions. The prevalence of these conditions was assessed, and statistical analysis, including logistic regression, was used to evaluate associations with demographic and socioeconomic factors (age, gender, education level, and urbanization).

RESULTS: The most prevalent skin conditions were herpes labialis (40.6%), dandruff (37.6%), hair loss (34.8%), and acne (32.7%), with 89.5% of participants reporting at least one condition. Striking gender differences were observed, with psoriasis (odds ratio [OR] = 2.10, 95% confidence interval [CI]: 1.80-2.30) and tinea pedis (OR = 2.10, 95% CI: 1.90-2.30) in men, while women were more prone to rosacea (OR = 0.6, 95% CI: 0.50-0.70) and hair loss (OR = 0.70, 95% CI: 0.60-0.70). Higher education was unexpectedly associated with an increased risk of multiple conditions, including acne (OR = 1.50, 95% CI: 1.40-1.60) and non-melanoma skin cancer (OR = 1.40, 95% CI: 1.20-1.80), but a decreased risk of psoriasis (OR = 0.90, 95% CI: 0.80-1.00). Urban residents of cities with > 500,000 inhabitants showed a significantly higher prevalence of atopic dermatitis/eczema (OR = 1.20, 95% CI: 1.00-1.30) and non-melanoma skin cancer (OR = 2.00, 95% CI: 1.40-2.90) compared with other areas.

CONCLUSIONS: This first overview of skin disease epidemiology in Poland reveals significant variations in prevalence based on demographic and socioeconomic factors. These findings have important public health implications, suggesting the need for: (1) gender-specific dermatological education campaigns, (2) age-targeted skin cancer screening programs for those over 65 years, (3) improved access to dermatological care in rural areas, and (4) educational interventions addressing the observed socioeconomic disparities in disease prevalence and detection.

PMID:40543011 | DOI:10.1007/s13555-025-01464-5

Updates Surg. 2025 Jun 21. doi: 10.1007/s13304-025-02287-x. Online ahead of print.

ABSTRACT

BACKGROUND: To compare the safety, efficacy, and economic outcomes of ambulatory with inpatient gasless trans-axillary endoscopic unilateral thyroidectomy (GTEUT).

METHODS: Data were collected from patients who underwent GTEUT in the day surgery or inpatient wards of Xiangya Hospital, Central South University, between January 1, 2021, and January 1, 2024. All surgeries were performed by the same experienced surgical team, using identical inclusion and exclusion criteria.

RESULTS: A total of 458 patients were included in the study, with 322 in the ambulatory GTEUT group and 136 in the inpatient GTEUT group. The overall incidence of postoperative complications was lower in the ambulatory GTEUT group (7.76%) compared to the inpatient GTEUT group (10.29%), although the difference was not statistically significant. Hospitalization expenses in the ambulatory GTEUT group were reduced by approximately 29% compared to the inpatient group, with a statistically significant difference (p < 0.001). The length of hospital stay was significantly shorter for ambulatory group, who were discharged within 24 h (1.01 ± 0.10 days) compared to the inpatient group (5.76 ± 1.64 days) (p < 0.001). Anxiety and depression levels were higher in the ambulatory GTEUT group compared to the inpatient group, with the difference being statistically significant.

CONCLUSION: Ambulatory GTEUT is a safe alternative to inpatient surgical methods. It offers the advantages of shorter hospital stays and improved economic benefits. However, the mental health of patients undergoing daytime surgeries requires further attention.

PMID:40543009 | DOI:10.1007/s13304-025-02287-x

Rev Endocr Metab Disord. 2025 Jun 21. doi: 10.1007/s11154-025-09981-6. Online ahead of print.

ABSTRACT

Cardiovascular autonomic neuropathy (CAN) is a serious and prevalent complication of diabetes, linked to significant morbidity and mortality. Continuous glucose monitoring systems (CGM) provide a comprehensive and continuous glucose profile, enabling precise assessment of glycemic variability, hypoglycemia, and other key glucose metrics. Despite the increasing use of CGM, the relationship between CGM-derived metrics and CAN risk has yet to be rigorously evaluated. A systematic search of PubMed, Cochrane Library, Web of Science, Medline, and Embase was conducted up to 30 September 2024. Eligible observational studies assessed the association between CGM metrics and CAN in diabetic adults, using ORs with 95% CIs. Heterogeneity was evaluated via Cochrane’s Q and I² statistics, and meta-analysis was performed when at least three studies provided comparable CGM metrics and outcomes. Sixteen studies involving 1,814 participants were included in the systematic review. Among these, four studies each for coefficients of variation (CV) and standard deviation (SD), and five studies for mean amplitude of glycemic excursions (MAGE) provided data suitable for meta-analysis. Higher CV (OR 1.08; 95% CI 1.04-1.12) and SD (OR 1.03; 95% CI 1.01-1.06) were significantly associated with increased CAN risk, whereas MAGE was not significantly associated (OR 1.01; 95% CI 0.99-1.03). Other metrics such as time in range (TIR), time above/below range (TAR/TBR), and low blood glucose index (LBGI) showed inconsistent results across studies and were synthesized narratively. Higher glycemic variability, notably CV and SD, is linked to increased CAN risk in patients with diabetes. Monitoring CGM metrics may aid early detection and management of CAN. Further high-quality longitudinal studies are warranted.

PMID:40543000 | DOI:10.1007/s11154-025-09981-6

Musculoskeletal Care. 2025 Jun;23(2):e70146. doi: 10.1002/msc.70146.

ABSTRACT

The aim of this study is to describe patient experiences with the dietetic service in a multidisciplinary orthopaedic physiotherapy screening clinic for the management of osteoarthritis, specifically nutrition-related indicators of success, such as changes to weight and diet. A retrospective observational medical chart audit was conducted of patients with osteoarthritis within the dietetic clinic over a 12-month period in a large, urban setting in Australia. In total, 38 patients met the inclusion criteria; 68% were female. Patients spent an average of 182 days in dietetics care, with an average of 5 appointments per patient. Approximately one-third (32%) of patients achieved a clinically significant weight loss (> 5% of body weight), 58% had no change in weight, and 11% of patients gained weight (> 5% of body weight). Of patients in the successful weight loss group, 50% had been advised to follow a very low energy diet, compared to 19% in the no weight loss group (p = 0.05). Patients appeared to be increasing their consumption of fruits and vegetables and decreasing their discretionary foods, but changes did not reach statistical significance. We found that the current clinic was resource-intensive, provided varied nutritional treatments, and resulted in some, but limited, success. Findings from this study suggest areas for improvement in clinics that primarily serve patients with osteoarthritis.

PMID:40542998 | DOI:10.1002/msc.70146

Jpn J Ophthalmol. 2025 Jun 21. doi: 10.1007/s10384-025-01214-2. Online ahead of print.

ABSTRACT

PURPOSE: This retrospective cohort compared the cumulative probability of success for glaucoma drainage device (GDD) implantation in pediatric and adult patients.

STUDY DESIGN: This retrospective study enrolled adult and pediatric patients who had received a GDD between January 1, 1985 and December 31, 2017.

METHODS: Kaplan-Meier method was used to estimate the cumulative probability of success in the pediatric and adult patients. Successful intraocular pressure (IOP) control was defined as (i) a 20% reduction from baseline and (ii) IOP>6 and <18. Inadequate IOP control and failure were defined as a violation of these two criteria over two consecutive visits. Cox proportional hazards models enabled assessing the influence of sex, GDD location, and GDD type on IOP control.

RESULTS: A total of 425 adult eyes from 372 individuals and 41 pediatric eyes from 28 individuals were included. The median follow-up time was 55 months for adults and 87 months for children. Superior temporal GDD placement was most employed for both (p=0.16). Adults were more likely to receive a Baerveldt 350 (p=0.04) and children were more likely to receive an Ahmed S2 (p<0.001). Adults and children had a median survival time of 2.99 and 0.82, respectively, and did not have a statistically significant difference in GDD failure rate (p=0.18). Additionally, sex, GDD location, and GDD type did not affect the success rate.

CONCLUSIONS: Children and adults had a similar cumulative probability of success following GDD implantation. This study found that GDD type, GDD location, and glaucoma type did not influence the probability of successful IOP control.

PMID:40542982 | DOI:10.1007/s10384-025-01214-2

J Orthop Traumatol. 2025 Jun 21;26(1):38. doi: 10.1186/s10195-025-00849-8.

ABSTRACT

PURPOSE: To investigate the effect of arthroscopic reduction combined with robot-guided screw placement on Hawkins type II fractures of the talus neck.

METHODS: Clinical data from 42 patients with talus neck Hawkins type II fracture treated in the institution from November 2019 to January 2021 were selected. According to the blind envelope method, 21 patients were enrolled in the study group, and 21 patients were enrolled in the control group. The patients in the study group underwent arthroscopy-assisted reduction combined with orthopedic robot navigation screw placement surgery, while those in the control group underwent open reduction surgery.

RESULTS: All 42 patients were followed up. The patients in the study group were followed up for a mean of 14.76 (range, 12-17) months. No talus avascular necrosis or fracture nonunion were observed. Subtalar arthritis was reported in two cases. Patients in the control group were followed up for an average of 14.52 (ranging from 12 to 17) months, and no talus avascular necrosis or fracture nonunion was found. Incisional infection occurred in one case and subtalar arthritis in three cases. The difference between the two groups was statistically significant (P < 0.05) in the duration from injury to surgery, operation time, blood loss, incision length, and number of guide pin insertions. There was no significant difference between the two groups in ankle joint range of motion, the American Orthopedic Foot and Ankle Society ankle-hindfoot score at the last follow-up, and visual analogue scale of pain before operation and at the last follow-up (P > 0.05).

CONCLUSIONS: The management of Hawkins type II fracture of the talus neck using arthroscopy-assisted reduction combined with robot navigation screw placement yields satisfactory results and represents a viable treatment alternative that warrants consideration.

PMID:40542971 | DOI:10.1186/s10195-025-00849-8

Int Urol Nephrol. 2025 Jun 21. doi: 10.1007/s11255-025-04604-0. Online ahead of print.

ABSTRACT

PURPOSE: To investigate the feasibility and safety of robot-assisted partial nephrectomy (RAPN) to treat large (T2) cystic renal-cell carcinoma.

METHODS: A multinational study was conducted worldwide. Patients with renal tumors larger than 7cm who underwent partial nephrectomy between December 2007 and July 2017 were recruited retrospectively. The patients were divided into solid tumor group (143 cases) and cystic tumor group (28 cases). Baseline parameters, tumor characteristics, perioperative variables, and pathological outcomes were collected.

RESULTS: Between cystic and solid tumors, no statistically significant differences were detected in age, gender, BMI, ASA score, clinical tumor size, laterality, or R.E.N.A.L nephrometry score. Operating time, warm ischemic time, estimated blood loss, complications, histology outcomes, and margin status were comparable. Pathology of 6 cystic tumors came back benign (21.4%). In solid tumors, 6 intraoperative bleeding require transfusion, 1 ureteral damage, and 3 postoperative urinary fistulas were observed. In cystic tumors, conversion to radical nephrectomy happened in one case, because of sticky fat and the risk of cyst rupture. In two cases, postoperative bleeding was treated with embolism. The longest follow-up was 113 months. In cystic group, 1 recurrence or metastasis was observed, while in solid group, 14 cases were observed.

CONCLUSION: RAPN can be safely performed to treat large (T2) cystic renal-cell carcinoma. Patients with cystic renal-cell carcinoma exhibited favorable renal function recovery after robot-assisted partial nephrectomy (RAPN), which maximally preserved normal renal tissue and its function. Further studies are needed to better understand the role of RAPN for these challenging cases.

PMID:40542967 | DOI:10.1007/s11255-025-04604-0

Behav Genet. 2025 Jun 21. doi: 10.1007/s10519-025-10224-2. Online ahead of print.

ABSTRACT

Meta-analyses report small to moderate effect sizes or inconsistent associations (usually around r = -0.10) between wellbeing (WB) and social media use (SMU) and between anxious-depressive symptoms (ADS) and SMU (also around r = 0.10). This study employs the classical twin design, utilizing data from 6492 individuals from the Netherlands Twin Register, including 3369 MZ twins (893 complete twin pairs, 1583 incomplete twin pairs) and 3123 DZ twins (445 complete, 2233 incomplete) to provide insights into the sources of overlap between WB/ADS and SMU. Both hedonic and eudaimonic WB scales were used. SMU was measured by (1) the time spent on different social media platforms (SMU_t), (2) the frequency of posting on social media (SMU_f), and (3) the number of social media accounts individuals have (SMU_n). Our results confirmed the low phenotypic correlations between WB and SMU (between r = -0.09 and 0.04) as well as between ADS and SMU (between r = 0.07 and 0.10). For SMU, heritability estimates between 32 and 72% were obtained. The small but significant phenotypic correlations between WB/ADS and the SMU phenotypes were mainly determined by genetic factors (in the range of 80-90%). For WB and SMU, genetic correlations were between -0.10 and -0.0, and for ADS and SMU genetic correlations were between 0.10 and 0.23. Genetic correlations implied limited but statistically significant sets of genes that affect WB/ADS and SMU levels. Overall, the results indicate that there is evidence that the small associations between WB/ADS and SMU are partly driven by overlapping genetic influences. We encourage researchers and experts to consider more personalized approaches when considering the association between WB and SMU, as well as understanding the reasons for individuals’ observed SMU levels.

PMID:40542957 | DOI:10.1007/s10519-025-10224-2