Gradient conducting polymer surfaces with netrin-1-conjugation promote axon guidance and neuron transmission of human iPSC-derived retinal ganglion cells.

Major advances have been made in utilizing human-induced pluripotent stem cells (hiPSCs) for regenerative medicine. Nevertheless, the delivery and integration of hiPSCs into target tissues remain significant challenges, particularly in the context of retinal ganglion cell (RGC) restoration. In this study, we introduce a promising avenue for providing directional guidance to regenerated cells in the retina. First, we developed a technique for construction of gradient interfaces based on functionalized conductive polymers, which could be applied with various functionalized ehthylenedioxythiophene (EDOT) monomers. Using a tree-shaped channel encapsulated with a thin PDMS and a specially designed electrochemical chamber, gradient flow generation could be converted into a functionalized-PEDOT gradient film by cyclic voltammetry. The characteristics of the successfully fabricated gradient flow and surface were analyzed using fluorescent labels, time of flight secondary ion mass spectrometry (TOF-SIMS), and X-ray photoelectron spectroscopy (XPS). Remarkably, hiPSC-RGCs seeded on PEDOT exhibited improvements in neurite outgrowth, axon guidance and neuronal electrophysiology measurements. These results suggest that our novel gradient PEDOT may be used with hiPSC-based technologies as a potential biomedical engineering scaffold for functional restoration of RGCs in retinal degenerative diseases and optic neuropathies.

Impact of atmospheric O3 and NO2 on the secondary sulfates in real atmosphere.

As an important component of secondary aerosols, sulfate plays a crucial role in regulating atmospheric radiative balance and influencing the secondary formation of ozone (O3). In real atmosphere, atmospheric oxidants NO2 and O3 can promote the oxidation of SO2 to form sulfate (SO42-) through multiphase chemistry that occur at different time scales. Due to the combined impact of meteorology, pollution sources, atmospheric chemistry, etc., time-scale dependence of SO2-SO42- conversion makes the impact of NO2/O3 on it more complex. In this study, based on long-term time series (2013-2020) of air pollution variables from seven stations in Hong Kong, the Multifractal Detrended Cross-Correlation Analysis (MFDCCA) method has been employed to quantify the cross-correlations between SO2 and SO42- in real atmosphere at different time scales, for examining the time-scale dependence of SO2-SO42- conversion efficiency. Furthermore, the Pearson correlation analysis has been used to study the influence of NO2/O3 on SO2-SO42- conversion, and the regional and seasonal differences have been analyzed by considering factors such as meteorology, pollution sources, and regional transport. Changes in the main components of secondary aerosols are closely linked with the co-control of regional PM2.5 and O3. Therefore, the exploration of the impact of co-existing NO2/O3 gases on the secondary formation of sulfates in real atmosphere is significant.

An innovative Hearing AED alarm system shortens delivery time of automated external defibrillator - A randomized controlled simulation study.

Background: Early defibrillation with an automated external defibrillator (AED) is a key element in the out-of-hospital cardiac arrest (OHCA) chain. However, a public automatic defibrillator (PAD) is often not easily accessible during emergency situations. Here, we have developed an AED-based alarm system together with a smartphone Hearing AED application (APP) that would activate registered public access AED within 300 m radius from the location of an OHCA event. It also alerts nearby related personnel to bring in the AED to the OHCA location for emergency assistance. The aim of this study is to determine if this novel Hearing AED alarm system shortens the AED delivery time. Methods: This was a randomized controlled simulation study. Participants were randomly assigned to one of the 3 groups: (a) bystander group, (b) APP responder group, and (c) AED alarm responder in equal ratios. The bystanders were stationed at the OHCA scene, and must access a nearby AED by the instruction of the dispatcher of emergency medical services. APP responders were stationed within 300 m of the cardiac arrest scene, and were activated by the Hearing AED APP. The AED alarm responders were brought to AED location, and were activated by the AED-based alarm device mounted on an AED case. We measured the time taken to find and bring the nearby AED to the OHCA scene. The primary outcome was the total delivery time in each group. The secondary outcomes were times needed: (a) from the starting point to AED place, (b) from AED place to the OHCA scene, and (c) the operation time. Results: We enrolled 90 participants in this study. The total AED delivery times were significantly different across the 3 groups. The shortest time was in the AED alarm responder group, compared with the other two groups. The median time from the starting point to AED was statistically shorter in the bystander group than in the APP responder group (116.0 sec, IQR 80.0-135.0 vs 159.0 sec, IQR 98.5-200.5, p = 0.029). In the analysis with the general linear model, we found statistically shorter total AED delivery time in the AED alarm responder group (ß = -122.4, p = 0.004). In contrast, the APP responder group was associated with a markedly longer total AED delivery time (ß = 104.6, P=0.016). Conclusion: In this simulation study, the Hearing AED system contributed to shortening the AED delivery time. Further studies are needed to determine its validation in the real world situation in the future.

Characteristics and temporal evolution of asymptomatic diffusion-weighted imaging lesions in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

BACKGROUND AND PURPOSE: The role of asymptomatic diffusion-weighted imaging-positive (aDWI+) lesions in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) patients remains unclear, and their radiographic features may differ from those of symptomatic diffusion-weighted imaging-positive (sDWI+) lesions. We aimed to investigate the clinicoradiographic characteristics of aDWI+ lesions in CADASIL patients. METHODS: We conducted a retrospective analysis using data from the Taiwan CADASIL Registry. aDWI+ lesions were defined as incidentally detected DWI+ lesions without corresponding acute neurological deficits. We compared the baseline clinical characteristics of patients with and without aDWI+ lesions and analyzed their radiological features and evolution in relation to sDWI+ lesions. RESULTS: Among 154 enrolled patients (mean age 62 ± 10 years), 17 (11%) had aDWI+ lesions. Baseline clinical characteristics were similar in the two groups, but those with aDWI+ lesions had more lacunes (median 8 vs. 2), multiple cerebral microbleeds (CMBs; 85% vs. 40%), and anterior temporal white matter hyperintensity (WMH; 47% vs. 14%). Multivariable analysis showed that aDWI+ lesions were associated with anterior temporal WMH (odds ratio 5.7, 95% confidence interval 1.5-21.0) after adjusting for multiple lacunes, multiple CMBs, and total WMH score. Compared to sDWI+ lesions, aDWI+ lesions were more often small infarcts (<1 cm; 89% vs. 23%) and less likely to involve the corticospinal tract (11% vs. 96%). Among the 11 aDWI+ lesions with follow-up magnetic resonance imaging, seven became microinfarcts, three became lacunes, and one disappeared. CONCLUSIONS: aDWI+ lesions in CADASIL are not uncommon and are associated with higher burdens of small vessel disease and anterior temporal WMH. Further research is needed to assess their long-term impact on CADASIL.

Characterizing two hybrid exercise-cognitive training interventions with neurophysiological and behavioral indexes in post-stroke patients with cognitive dysfunction: a randomized controlled trial.

Combined exercise and cognitive training have been evidenced to be effective in cognitive and physical functions in post-stroke survivors. Recent interest has gradually shifted to technology-aided cognitive rehabilitation. However, clear neural makers or comprehensive behavioral indexes used for evaluating rehabilitation remain unexplored. The study aimed to examine the effects of two types of combined exercise-cognitive training on stroke patients with cognitive dysfunction, focusing on neural and behavioral markers. 39 patients were randomly assigned to sequential exercise-cognitive training, simultaneous exercise-cognitive training or active control groups and underwent 60 minutes/day training, 3 days/week, for 12 weeks. 29 patients ultimately completed the training. The markers/indexes included cognitive function, physical function, instrumental activities of daily living, and caregiver strain. Cognitive function included working memory task performance, neurophysiological markers, and cognitive indexes. The results indicated no d-prime difference between groups after the training. The simultaneous training demonstrated significant improvements in the neurophysiological marker of P300 and theta coherence compared to the other groups. Moreover, the simultaneous training also led to significant enhancements in physical function, as measured by the Rivermead Mobility Index, comparing to the other groups. Further analysis contrasting the two exercise-cognitive trainings revealed that improvements in cognition and multifaceted domains (i.e., instrumental activities of daily living and caregiver strain) were manifested in the simultaneous training. Together with the neural markers identified in the current interventions, the differential impacts of the two interventions indicates the potential of technology-driven and personalized rehabilitation in post-stroke patients.

Enhanced SIRT1 Activity by Galangin Mitigates UVB-Induced Senescence in Dermal Fibroblasts via p53 Acetylation Regulation and Activation.

Human skin aging, a complex process influenced by intrinsic aging and extrinsic photoaging, is marked by the accumulation of reactive oxygen species (ROS) that cause DNA damage, impaired dermal fibroblast function, and wrinkle formation. External stressors, such as ultraviolet (UV) radiation, can trigger cellular senescence. Sirtuin-1 (SIRT1), an NAD+-dependent enzyme in the sirtuin family, plays a crucial role in deacetylating p53, thereby inhibiting its nuclear translocation and reducing skin senescence. Galangin, a flavonoid found in honey and Alpinia officinarum root, has antioxidant and anti-inflammatory properties. This study investigates the protective mechanism of galangin against UVB-induced senescence in human dermal fibroblasts (HDFs) by examining its effects on SIRT1 and its target, acetylated-p53. An in vitro model of UVB-induced senescence using HDFs and an in vivo model using nude mice were employed to assess the dermal protective effects of galangin. The results demonstrate that while UVB exposure does not decrease SIRT1 protein levels, it impairs its enzymatic function. However, galangin treatment counteracts these adverse effects. Additionally, UVB exposure significantly reduces cell viability and upregulates senescence markers like p16, p21, and p53 nuclear transactivation. An increase in senescence-associated ß-galactosidase (SA-ß-gal) positive cells was observed in UVB-exposed dermal fibroblasts. Galangin treatment mitigates UVB-induced cellular senescence by enhancing SIRT1-mediated p53 deacetylation, thereby inhibiting nuclear translocation and reducing dermal senescence. These findings suggest that galangin is a promising agent for alleviating UVB-induced skin aging and could be a potential component in antiaging cosmetic formulations.

Risk of chronic fatigue syndrome after COVID-19: A retrospective cohort study of 3227281 patients.

BACKGROUND: Many patients who recovered from COVID-19 still suffer from chronic fatigue syndrome (CFS). It was observed that patients with comorbidities were more prone to developing CFS. This research investigates the risk of post-COVID-19 CFS to assist healthcare professionals in reducing the risk of CFS. METHODS: A retrospective cohort study is conducted to investigate the risk of post-COVID-19 CFS based on the TriNetX-sourced electronic health records. Factors including age, sex, race, vaccination, and severity of COVID-19 are analysed. Propensity score matching was applied to balance COVID-19 and non-COVID-19 cohorts. Kaplan-Meier analysis and Cox proportional hazard model were used to perform the relationship between COVID-19 and CFS risk. RESULTS: This research involved 3227281 patients with COVID-19 and 3227281 with non-COVID-19 between 1st January 2020 and 31st December 2023. The incidence of CFS was higher in the COVID-19 group compared to the non-COVID-19 group at 1 follow-up intervals (HR 1.59, 95 % CI = 1.54-1.63). Subgroup analysis revealed increased CFS risk across different age groups (>18), sexes, races, and comorbid conditions, with notable variations. CONCLUSIONS: COVID-19 patients have a higher risk of developing CFS compared to individuals without COVID-19. The increased risk is particularly significant in adults aged 18 years and older.

Single and mixture toxicity of benzophenone-3 and its metabolites on Daphnia magna.

Benzophenone-3 (BP-3) is one of the organic ultraviolet (UV) filters widely used in personal care products, resulting in its ubiquitous occurrence in aquatic systems. This study discovered the potential risks of benzophenone-3 and its metabolites (BP-1 and BP-8) in aquatic environments. This study investigated the toxicity of three single BPs and their mixtures' effects on the survival of Daphnia magna. All three BP types were found to have toxic effects on D. magna, with median effective concentration (EC50) values of 22.55 mg/L for BP-1, 1.89 mg/L for BP-3, and 2.36 mg/L for BP-8, after 48 hours of exposure. When the three BPs were binary and ternary mixtures, the EC50 values fell within 2.74-32.26 mg/L. Binary and tertiary mixtures of the three BPs indicated no strong synergistic or antagonistic effects. The mixture toxicity predictions using the classical mixture concept of concentration addition and measured toxicity data showed good predictability. The ecological risks of BPs were assessed using the maximum measured environmental concentrations of BPs collected from a river in Taiwan, divided by their respective predicted no-effect concentration (PNEC) values derived from the assessment factor (AF) method. The result showed a low ecological risk for the sum of three BPs. However, BP-3 had the highest potential risk, while BP-1 was the lowest among the three BPs. Therefore, BP-3 should pay attention to long-term environmental monitoring and management. This study provides valuable information for establishing scientifically-based water quality criteria for BPs and evaluating and managing the potential risk of BPs in the aquatic environment.

Carpal Tunnel Syndrome in Elite Female Tug-of-War Athletes: Prevalence and Risk Factor Analysis.

Background: Tug-of-War (TOW) games involve repetitive hand movements and vigorous force, raising the risk of peripheral neuropathy in the upper extremities. The prevalence of carpal tunnel syndrome (CTS) in TOW athletes remains unclear. We hypothesize that elite female TOW athletes have a higher prevalence of CTS than the general population. Methods: Twenty-nine female TOW athletes were recruited from a national team and participated in the study. CTS was clinically diagnosed by history taking and physical examination. Nerve conduction studies (NCS) were additionally performed to confirm CTS. Results: Twelve athletes were clinically diagnosed with CTS; however, only nine were confirmed by NCS. Ten athletes were diagnosed with subclinical CTS by NCS, while seven were classified as truly-non-CTS by both clinical assessment and NCS. The prevalence of CTS and subclinical CTS among the athletes was found to be 33.3% and 37.0%, respectively, significantly higher than 2.7% in the general population by electrodiagnosis. The body weight (p = 0.025) of the athletes with CTS and subclinical CTS was significantly different from those of the athletes without CTS. Conclusions: Our observations revealed a higher prevalence of CTS among elite female TOW athletes, with body weight being a risk factor. The forceful grasping and pulling of the rope may contribute to the development of CTS.

Evaluation of Vaccine Strategies among Healthcare Workers during COVID-19 Omicron Outbreak in Taiwan.

BACKGROUND/OBJECTIVES: This study aimed to assess the reactogenicity and immunogenicity of various SARS-CoV-2 vaccines and compare their protective effects against COVID-19 among healthcare workers (HCWs) during the Omicron outbreak in Taiwan. METHODS: Conducted from March 2021 to July 2023, this prospective observational study included healthy HCWs without prior COVID-19 immunization. Participants chose between adenovirus-vectored (AstraZeneca), mRNA (Moderna, BioNTech-Pfizer), and protein-based (Medigen, Novavax) vaccines. Blood samples were taken at multiple points to measure neutralizing antibody (nAb) titers, and adverse events (AEs) were recorded via questionnaires. RESULTS: Of 710 HCWs, 668 (94.1%) completed three doses, and 290 (40.8%) received a fourth dose during the Omicron outbreak. AEs were more common with AstraZeneca and Moderna vaccines, while Medigen caused fewer AEs. Initial nAb titers were highest with Moderna but waned over time regardless of the vaccine. Booster doses significantly increased nAb titers, with the highest levels observed in Moderna BA1 recipients. The fourth dose significantly reduced COVID-19 incidence, with Moderna BA1 being the most effective. CONCLUSIONS: Regular booster doses, especially with mRNA and adjuvant-protein vaccines, effectively enhance nAb levels and reduce infection rates, providing critical protection for frontline HCWs during variant outbreaks.

Efficacy and safety of ketoanalogue supplementation combined with protein-restricted diets in advanced chronic kidney disease: a systematic review and meta-analysis.

BACKGROUND: The benefits and harms of protein-restricted diets supplemented with ketoanalogues in patients with chronic kidney disease (CKD) remain uncertain. We aimed to evaluate the effects of ketoanalogues supplemented to protein-restricted diets in patients with advanced CKD. METHODS: We conducted systematic literature searches of PubMed, Embase, Scopus, and Cochrane Library up to June 3, 2024. Randomized controlled trials comparing ketoanalogue supplementation with a low- or very low-protein diet versus a low-protein diet alone in stages 3-5 CKD patients were selected. Outcomes included glomerular filtration rate (GFR), end-stage kidney disease (ESKD), all-cause mortality, and blood levels of urea nitrogen, calcium, phosphorus, and albumin. Triceps skin fold, mid-arm muscle circumference, lean body mass, and subjective global assessment were also evaluated. The protocol for this systematic review was registered in the International Prospective Register of Systematic Reviews (PROSPERO; registration number CRD42023465754). RESULTS: A total of 16 trials comprising 1344 participants were identified, with a median follow-up of 13 months. Compared to a low-protein diet alone, ketoanalogues supplemented to a protein-restricted diet resulted in a significantly higher GFR, decreased levels of urea nitrogen and phosphorus, and increased levels of calcium. Furthermore, ketoanalogues combined with a protein-restricted diet showed a marginally lower risk of ESKD in participants without diabetes. No significant differences were observed in all-cause mortality, albumin, mid-arm muscle circumference, lean body mass, and subjective global assessment. CONCLUSIONS: For stages 3-5 CKD patients, ketoanalogues combined with a protein-restricted diet may help postpone initiation of dialysis, improve calcium-phosphate homeostasis, and slow GFR decline, while maintaining a similar nutritional status and survival. Larger, long-term studies are needed to confirm these potential benefits, especially in CKD patients with diabetes.

Locking Plate Fixation with Calcium Phosphate Bone Cement Augmentation for Elderly Proximal Humerus Fractures-A Single-Center Experience and Literature Review.

Proximal humerus fractures (PHFs) are among the most common upper-extremity fractures, with a rising incidence linked to the growing elderly population. Treatment options include non-surgical and surgical methods, but the best approach for geriatric PHFs remains debated. Patient selection for treatment must consider clinical and functional outcomes and the potential complications of surgery. Osteoporosis, a key factor in elderly PHFs, meaning those in patients over 65 years old, often results from low-energy trauma and necessitates treatments that enhance bone healing. Bone cement, such as calcium phosphate, is widely used to improve fracture stability and healing. However, the benefits of surgical fixation with bone cement augmentation (BCA) for elderly PHF patients remain controversial. Hence, in this article, we searched databases including MEDLINE, Embase, the Cochrane Central Register of Controlled Trials, and Web of Science to analyze the evidence on locking plate fixation (LPF) with BCA for proximal humeral fractures. We aim to provide readers with updates concerning the above issues.

Impact of Ventilator Settings on Pulmonary Nodule Localization Accuracy in a Hybrid Operating Room: A Single-Center Study.

Background: Pulmonary nodule localization in a hybrid operating room (OR) followed by thoracoscopic operation presents a viable alternative for early lung cancer treatment, potentially supplanting conventional two-stage preoperative computed tomography-guided localization. This hybrid OR technique enables lesion localization under positive ventilation, contrasting with the traditional method requiring concurrent respiratory motion. This study aimed to evaluate our experience with different ventilator settings and the accuracy of pulmonary nodule localization. Methods: We retrospectively analyzed 176 patients with multiple pulmonary nodules who had localization procedures in our hybrid operating room. Ninety-five patients were assigned to the traditional ventilator setting group (tidal volume 8-10 mL/kg) and 81 to the lung-protective strategy group (tidal volume < 8 mL/kg). Localization accuracy was assessed via hybrid computed tomography imaging, ensuring that the needle-to-lesion distance was ≤5 mm. Between-group differences were assessed using the chi-squared test, Fisher's exact test, and the Mann-Whitney U test, as appropriate. Results: Pathological findings revealed primary lung malignancy in 150 patients, inclusive of invasive adenocarcinoma, adenocarcinoma in situ, and minimally invasive adenocarcinoma. Multivariate regression analysis identified tidal volume, nodule count, and localization depth as significant predictors of localization accuracy. Conclusions: This study demonstrated that ventilator settings with a tidal volume of 8-10 mL/kg significantly enhanced localization accuracy and slightly improved patient oxygenation. However, additional randomized controlled trials are warranted to validate these findings and establish definitive guidelines for future interventions.

Emergence and transmission of the high-risk ST78 clone of OXA-48-producing Enterobacter hormaechei in a single hospital in Taiwan.

Carbapenem-resistant Enterobacter cloacae complex is a significant global healthcare threat, particularly carbapenemase-producing Enterobacter hormaechei (CPEH). From January 2017 to January 2021, twenty-two CPEH isolates from a regional teaching hospital in central Taiwan were identified with the carriage of carbapenemase genes blaKPC-2, blaIMP-8, and predominantly blaOXA-48. Over 80% of these CPEH strains clustered into the high-risk ST78 lineage, carrying a blaOXA-48 IncL plasmid (pOXA48-CREH), nearly identical to the endemic plasmid pOXA48-KP in ST11 Klebsiella pneumoniae. This OXA-48-producing ST78 lineage disseminated clonally from 2018 to 2021 and transferred pOXA48-CREH to ST66 and ST90 E. hormaechei. An IMP-8-producing ST78 strain harbouring a blaIMP-8-carrying pIncHI2 plasmid appeared in 2018, and by late 2020, a KPC-2-producing ST78 strain was identified after acquiring a novel blaKPC-2-carrying IncFII plasmid. These findings suggest that the high-risk ST78 lineage of E. hormaechei has emerged as the primary driver behind the transmission of CPEH. ST78 has not only acquired various carbapenemase-gene-carrying plasmids but has also facilitated the transfer of pOXA48-CREH to other lineages. Continuous genomic surveillance and targeted interventions are urgently needed to control the spread of emerging CPEH clones in hospital settings.

Fetal microchimerism cells suppress arthritis progression by inducing CD14+ IL-10+ cells in pregnant experimental mice.

BACKGROUND: Fetal microchimerism occurs in the mother after a pregnancy. To investigate the role of fetal microchimerism cells (FMCs) in rheumatoid arthritis, we analyzed the population of fetal cells in pregnant experimental arthritis mice. METHODS: We used EGFP+ fetuses, which were mated with either healthy female mice or CIA mice, and male C57BL/6J-Tg (Pgk1-EGFP)03Narl mice, to detect the population of FMCs in maternal circulation. The disease progression was determined by measuring the clinical score and histological stains during pregnancy. The fetal cells have been analyzed if expressing EGFP, CD45, and Scal by flow cytometry. We also detected the expression of CD14+ IL-10+ cells in vivo and in vitro. RESULTS: Our data showed that the pregnancy ameliorated the arthritis progression of CIA mice. The IHC stains showed the CD45 -Sca-1+ EGFP+ FMCs were expressed in the bone marrow and peripheral blood mononuclear cells (PBMC) at 14 gestation days. However, Treg and Tc cell populations showed no significant change in the bone marrow. The data showed the H2Kb + fetal cells induced CD14+ IL10+ cell populations increased in the bone marrow in vitro and in vivo. CONCLUSION: Our investigations demonstrated that the FMCs protected the CIA mice from cartilage damage and triggered an immunosuppressive response in them by increasing the number of CD14+ IL10+ cells. In conclusion, the FMCs could potentially exhibit protective properties within the context of inflammatory arthritis that arises during pregnancy.

Comparing the imaging characteristics of middle-aged patients with multiple sclerosis and CADASIL: A retrospective cross-sectional study.

BACKGROUND: Few studies have quantitatively analyzed the imaging disparities between multiple sclerosis (MS) and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We aimed to compare the imaging characteristics of MS and CADASIL in middle-aged patients. MATERIALS AND METHODS: This retrospective study used a single-center database and included patients aged 40-60 years with MS and CADASIL who underwent the designated imaging protocol including 3D T1-weighted imaging and fluid attenuated inversion recovery (FLAIR), diffusion tensor imaging and susceptibility-weighted imaging between January 2018 and March 2023. Patients with MRI-detected macrobleeds were excluded. RESULTS: A total of 27 patients with MS (mean age, 46.7 years ± 4.4, 8 men) and 30 patients with CADASIL (mean age, 51.6 years ± 5.8, 14 men) were included. No significant differences were observed in the Fazekas grades of white matter lesions (WMLs). Patients with CADASIL exhibited greater external capsule involvement (56.7% vs.18.5 %; p = 0.006), whereas the MS group had more lesions in the corpus callosum (81.5% vs. 53.3 %, p = 0.02) and brainstem (74.1% vs. 46.7 %, p = 0.04). The CADASIL group exhibited a higher incidence of microbleeds (12.07 vs. 0.11, p = 0.001). The WMLs in the MS group exhibited a lower T1 lesion/cerebrospinal fluid signal index (2.206 vs. 2.882, p < 0.001). A value of ≤2.57 demonstrated a sensitivity of 92.6 % and a specificity of 90.0 % in differentiating MS. Patients with MS had a thinner corpus callosum (7.18 mm vs 7.86 mm, p = 0.04), while patients with CADASIL showed significantly higher mean diffusivity (0.8776 × 10-3 vs. 0.7637 × 10-3 mm2/s, p = 0.03) and lower fractional anisotropy (0.7581 vs. 0.8389, p = 0.04) in the splenium of the corpus callosum. CONCLUSION: Middle-aged patients with MS and CADASIL showed comparable Fazekas grades for WMLs. However, lesion distribution, T1 signal characteristics, and splenic diffusivity changes can help differentiate between MS and CADASIL.

Genetic counseling of mosaicism for a duplication due to partial trisomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis.

Genetic counseling of mosaicism for a duplication due to partial trisomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis remains difficult because mosaic duplication due to partial trisomy has been reported to be associated with either normal or abnormal phenotype in prenatal diagnosis. This article makes a comprehensive review of the reported cases of mosaicism for a duplication due to partial trisomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis and various counseling issues such as culture artefact, cytogenetic discrepancy between cultured and uncultured amniocytes and among various tissues, perinatal progressive decrease of the abnormal cell line and a possible favorable fetal outcome. The information provided is useful for obstetricians and genetic counselors during genetic counseling of the parents who wish to keep the babies under such a circumstance.

Genetic counseling of mosaic and non-mosaic tetrasomy 9p at prenatal diagnosis.

Genetic counseling of mosaic and non-mosaic tetrasomy 9p remains difficult because of the possible associated congenital abnormalities, cytogenetic discrepancy in various tissues, true-positive and false-positive diagnosis in non-invasive prenatal testing (NIPT), uniparental disomy (UPD) 9, tissue-limited mosaicism, perinatal progressive decrease of the aneuploid cell line, phenotypic normal carriers and possible favorable fetal outcome in the cases with mosaic tetrasomy 9p at amniocentesis. This article presents a comprehensive review of various counseling issues concerning mosaic and non-mosaic tetrasomy 9p at prenatal diagnosis, and the information provided is very useful for genetic counseling under such circumstances.

Genetic counseling of mosaicism for balanced or unbalanced translocation with a normal cell line at amniocentesis.

Genetic counseling of mosaicism for balanced translocation with a normal cell line at amniocentesis is not difficult because most of the reported cases have normal phenotypes. However, genetic counseling of mosaicism for unbalanced translocation with a normal cell line at amniocentesis remains difficult because cases with mosaic unbalanced translocation with a normal cell line at prenatal diagnosis have been reported to be associated with either normal or abnormal phenotype. This article makes a comprehensive review of the reported cases of de novo or familial mosaic unbalanced translocation with a normal cell line and various counseling issues such as meiotic event, post-zygotic mitotic event, culture artefact, chimerism, uniparental disomy (UPD), jumping translocation, cytogenetic discrepancy between cultured and uncultured amniocytes and among various tissues, perinatal progressive decrease of the unbalanced translocation cell line and a possible favorable fetal outcome. The information provided is useful for obstetricians and genetic counselors during genetic counseling of the parents who wish to keep the babies under such a circumstance.

Genetic counseling of mosaicism for a deletion due to partial monosomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis.

Genetic counseling of mosaicism for a deletion due to partial monosomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis remains difficult because mosaic deletion due to partial monosomy has been reported to be associated with either normal or abnormal phenotype in prenatal diagnosis. This article makes a comprehensive review of the reported cases of mosaicism for a deletion due to partial monosomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis and various counseling issues such as culture artefact, cytogenetic discrepancy between cultured and uncultured amniocytes and among various tissues, perinatal progressive decrease of the abnormal cell line and a possible favorable fetal outcome. The information provided is useful for obstetricians and genetic counselors during genetic counseling of the parents who wish to keep the babies under such a circumstance.