Intracranial Germinoma in Two Caucasian American Siblings With Autism Spectrum Disorder.

Intracranial germ cell tumors (IGCTs) comprise 3% to 5% of all pediatric brain tumors in the West, with a significantly higher prevalence in Asia. Although these tumors are histologically diverse, repeated somatic variants have been demonstrated. Chromosomal aneuploidies, such as Klinefelter and Down syndromes, are associated with IGCTs, but no familial germline tumor syndromes are currently known. Here, we report the novel case of 2 American siblings with underlying autism spectrum disorder who developed intracranial germinoma within months of each other, in the absence of external risk factors. Extensive genetic testing was performed, including karyotyping, chromosomal microarray, and whole exome and whole genome sequencing, and did not identify any variants accounting for the phenotypes. Despite the absence of overlapping variants, a recent retrospective review demonstrated a threefold greater prevalence of autism spectrum disorder in patients with intracranial germinoma compared with national prevalence. This report highlights the complexity of tumor development, as well as the need for further research regarding IGCTs in a neurodivergent population.

Adaptation of sea turtles to climate warming: Will phenological responses be sufficient to counteract changes in reproductive output?

Sea turtles are vulnerable to climate change since their reproductive output is influenced by incubating temperatures, with warmer temperatures causing lower hatching success and increased feminization of embryos. Their ability to cope with projected increases in ambient temperatures will depend on their capacity to adapt to shifts in climatic regimes. Here, we assessed the extent to which phenological shifts could mitigate impacts from increases in ambient temperatures (from 1.5 to 3°C in air temperatures and from 1.4 to 2.3°C in sea surface temperatures by 2100 at our sites) on four species of sea turtles, under a "middle of the road" scenario (SSP2-4.5). Sand temperatures at sea turtle nesting sites are projected to increase from 0.58 to 4.17°C by 2100 and expected shifts in nesting of 26-43 days earlier will not be sufficient to maintain current incubation temperatures at 7 (29%) of our sites, hatching success rates at 10 (42%) of our sites, with current trends in hatchling sex ratio being able to be maintained at half of the sites. We also calculated the phenological shifts that would be required (both backward for an earlier shift in nesting and forward for a later shift) to keep up with present-day incubation temperatures, hatching success rates, and sex ratios. The required shifts backward in nesting for incubation temperatures ranged from -20 to -191 days, whereas the required shifts forward ranged from +54 to +180 days. However, for half of the sites, no matter the shift the median incubation temperature will always be warmer than the 75th percentile of current ranges. Given that phenological shifts will not be able to ameliorate predicted changes in temperature, hatching success and sex ratio at most sites, turtles may need to use other adaptive responses and/or there is the need to enhance sea turtle resilience to climate warming.

Central Nervous System Tumor With BCL6 Corepressor Internal Tandem Duplication: Treatment Course of a Long-term Survivor.

Central nervous system (CNS) tumor with BCL6 corepressor (BCOR) internal tandem duplication (ITD) is a newly described CNS tumor, characterized by in-frame ITDs of the BCOR gene. There is no standard practice regarding the management of this tumor. We report the clinical course of a 6-year-old boy who presented to the hospital with worsening headaches. Computed tomography scan showed a large right-sided parietal supratentorial mass and brain magnetic resonance imaging confirmed a 6×8×6.7 cm lobulated, solid but heterogeneous mass in the right parieto-occipital region. While initial pathology suggested a WHO grade 3 anaplastic meningioma, additional investigation with molecular analysis confirmed the diagnosis of high-grade neuroepithelial tumor with BCOR exon 15 ITD. This diagnosis was renamed CNS tumor with BCOR ITD in the 2021 WHO CNS tumor classification. The patient received 54 Gy of focal radiation and has no evidence of disease recurrence after 48 months from the end of treatment. As this is a newly discovered entity with only a few previous reports in the scientific literature, this report presents a unique treatment for this CNS tumor compared with those previously described.

An Eco-Benign Biomimetic Approach for the Synthesis of Ni/ZnO Nanocomposite: Photocatalytic and Antioxidant Activities.

With the increasing demand for wastewater treatment and multidrug resistance among pathogens, it was necessary to develop an efficient catalyst with enhanced photocatalytic and antibacterial applications. The present study proposes a facile and green strategy for synthesizing zinc oxide (ZnO) decorated nickel (Ni) nanomaterials. The synthesized Ni/ZnO nanocomposite displays a high crystallinity and spherical morphology, which was systematically characterized by XRD, SEM, FT-IR, UV-visible spectroscopy, EDX, HRTEM, and XPS techniques. In addition, the bacteriological tests indicated that Ni/ZnO nanocomposite exhibits potent antibacterial activity against human pathogens, i.e., Pseudomonas aeruginosa (P. aeruginosa), Staphylococcus aureus (S. aureus), and Escherichia coli (E. coli). The inhibition zone observed in light and dark conditions for E. coli was 16 (±0.3) mm and 8 (±0.4) mm, respectively, which confirms the high efficacy of the nanocomposite in the presence of light compared to dark conditions. The detailed inhibition mechanism of said bacterium and damage were also studied through fluorescence spectroscopy and SEM analysis, respectively. Evaluation of antioxidant activity based on free radical scavenging activity revealed that the Ni/ZnO nanocomposite effectively scavenges DPPH. In the photocatalytic performance, the Ni/ZnO nanocomposite exhibited a remarkable degradation ability under the optimized condition, which was attributed to their controllable size, high surface area, and exceptional morphology. Good selectivity, high photodegradation, and antibacterial activities and satisfactory hemolytic behavior of the as-prepared nanocomposite make them able to become a potential candidate for superior biological performance and environmental remediation.

Effect of light-dark conditions on inhibition of Gram positive and gram negative bacteria and dye decomposition in the presence of photocatalyst Co/ZnO nanocomposite synthesized by ammonia evaporation method.

Environmental pollution and various bacterial strains cause severe health problems. Thus a need exists to synthesize new materials and develop new techniques which can be used against these hazardous pathogens and components. In this research work, sustainable and effective Co/ZnO nanocomposites were prepared via a new hydrothermal technique and ammonia evaporation method. The synthesized nanomaterial was analytically characterized through various techniques such as X-ray diffraction (XRD), UV-vis spectroscopy, Scanning electron microscope (SEM), High transmission electron microscopy (HRTEM), Fourier transform infrared spectroscopy (FTIR), Energy-dispersive X-ray spectroscopy (EDX) and X-ray photoelectron spectroscopy (XPS). The as prepared nanocomposite was tested for photodegradation of methylene blue (MB). This test was performed both in visible light and in dark condition. The results demonstrate that the said material is more efficient in light compared to dark conditions and decomposed more than 80% MB dye only in 60 min. The synthesized nanomaterial Co/ZnO was also tested against highly drug resistant bacteria Escherichia coli and Staphylococcus aureus both in light and dark. Hence, the antibacterial assessment indicates the zone of inhibition in visible light of Co/ZnO counter with Escherichia coli is 15 (±0.2) and for Staphylococcus aureus is 18 (±0.4) mm and in dark for Escherichia coli is 11 (±0.6) and for Staphylococcus aureus is 14 (±0.1) mm. Moreover, the detail mechanism, reactive oxygen species production and bacterial surface damage were also observed. We demonstrate that Co/ZnO nanomaterial is stable, eco-friendly photocatalyst shows high strength against MB degradation and also shows strong inhibition effect against pathogens in visible light.

Bovine serum albumin functionalized blue emitting Ti3 C2 MXene quantum dots as a sensitive fluorescence probe for Fe3+ ion detection and its toxicity analysis.

In the present work, an improved class of protein functionalized fluorescent 2D Ti3 C2 MXene quantum dots (MXene QDs) was prepared using a hydrothermal method. Exfoliated 2D Ti3 C2 sheets were used as the starting precursor and transport protein bovine serum albumin (BSA) was used to functionalize the MXene QDs. BSA-functionalized MXene QDs exhibited excellent photophysical property and stability at various physiological parameters. High-resolution transmission electron microscopy analysis showed that the BSA@MXene QDs were quasispherical in shape with a size of ~2 nm. The fluorescence intensity of BSA@MXene QDs was selectively quenched in the presence of Fe3+ ions. The mechanism of fluorescence quenching was further substantiated using time-resolved fluorescence and Stern-Volmer analysis. The sensing assay showed a linear response within the concentration range 0-150 µM of Fe3+ ions with excellent limit of detection. BSA@MXene QDs probe showed good selectivity toward ferric ions even in the presence of other potential interferences. The practical applicability of BSA@MXene QDs was further tested in real samples for Fe3+ ion quantification and the sensor had good recovery rates. The cytotoxicity studies of the BSA@MXene QDs toward the human glioblastoma cells revealed that BSA@MXene QDs are biocompatible at lower doses and showed significant cytotoxicity at higher dosages.

Ongoing Response in a Multiply Relapsed Metastatic Posterior Fossa Ependymoma A After Vorinostat and Concomitant Irradiation.

Posterior fossa ependymomas A confer the worst prognosis among all subtypes. They demonstrate distinct epigenetic changes, which can be targeted with epigenetic modifiers like histone deacetylase inhibitors (Vorinostat). We describe a 3-year-old male diagnosed with a posterior fossa ependymoma who had a number of recurrences requiring multimodal therapy. Molecular analysis demonstrated a BCL-6 corepressor mutation, and methylation profiling matched with posterior fossa ependymomas A. He received craniospinal irradiation and focal boost with Vorinostat. Serial imaging after irradiation revealed a progressively decreasing tumor burden with nearly complete resolution of disease at 15 months. Histone deacetylase inhibitors demonstrate promise in treatment of carefully selected cases of ependymoma.

Uncaria rhynchophylla mediated Ag/NiO nanocomposites: A new insight for the evaluation of cytotoxicity, antibacterial and photocatalytic applications.

The increase of microbial resistance poses threats to human health. Therefore, efficient treatment of microbial resistance is a global challenge.. During this study, the Ag/NiO nanocomposite was fabricated via simple and ecofriendly method, using Uncaria rhynchophylla extract as a reducing and capping agent to avoid the aggregation of as synthesized nanomaterials. Here, a range of characterization techniques were employed to characterize the sample which includes UV-vis spectroscopy, X-ray diffraction, FTIR spectroscopy, electron diffraction spectroscopy (EDX), scanning electron microscopy (SEM). Furthermore, the resultant nanocomposite demonstrated an efficient ability for the inhibition of both gram-positive and gram negative pathogenic multidrug resistant bacteria. Additionally, the Ag/NiO nanocomposite showed a durable antioxidant effect against DPPH that could still reach 63% at very low concentration, i.e. 0.5 mg/mL. Interestingly, the synthesized nanocomposite is efficient for the production of reactive oxygen species (ROS) and shows no hemolytic activity. Likewise, the Ag/NiO nanocomposite displayed excellent photocatalytic activity to degrade 85% methylene blue (MB) by 4 mg/25 mL and could be used for waste water treatment. It is believed that synthesized nanostructure with desirable morphology and preparation simplicity can be promising material for antimicrobial, antioxidant and catalytic applications.

Juvenile Xanthogranuloma of the Pancreas in a Pediatric Patient Mimicking Pancreatic Neoplasm With High CA 19-9: Case Report and Literature Review.

Juvenile xanthogranuloma (JXG) is a rare, non-Langerhans cell histiocytosis. It is usually a benign and self-limiting condition. The most common sites are skin and soft tissue. Pancreatic involvement is extremely rare. We present an unusual case of a 13-month-old female child with JXG of the pancreas and elevated cancer antigen 19-9. JXG should always be considered as a differential diagnosis for pediatric patients presenting with a pancreatic mass, solid and/or cystic in nature. Therefore, avoiding unnecessary invasive diagnostic procedures.

Facile synthesis of silver modified zinc oxide nanocomposite: An efficient visible light active nanomaterial for bacterial inhibition and dye degradation.

The present study reports the synthesis of silver (Ag) decorated zinc oxide (ZnO) nanocomposite via green synthesis method by using Acacia arabica plant leaves extract as both reducing and capping agent. The results clearly indicate a uniform distribution of Ag nanoparticles (NPs) over ZnO surface. Various analytical and spectroscopic techniques were used for investigating the formation and morphology of as-synthesized Ag/ZnO nanocomposites. Emergence of SPR at 424 and 378 nm confirmed the synthesis of AgNPs and ZnO respectively. The confirmation of elemental composition and crystal structure of prepared nanomaterials (NMs) was carried out via EDX and XRD analysis. Results obtained from HRTEM and SEM analysis indicated small sized spherically shaped NMs. The as-synthesized was checked for its photocatalytic activity towards degradation of MB in the presence as well as absence of light irradiation. Results of degradation study revealed that Ag/ZnO exhibits remarkable photocatalytic activity in the presence of light whereby removing 90% of MB within 80 min. Moreover, the antibacterial activity of synthesized nanocomposite was examined in both visible light and dark conditions. The experiment showed that nanomaterial depicts enhanced antibacterial activity in light in comparison to dark. The results showed that the inhibition diameter of Ag/ZnO nanocomposite in light was found to be 18 (±0.2), 22 (±0.3) against E. coli and S. aureus respectively. The inhibition zone of the said nanomaterial against E. coli and S. aureus in dark was 11 (±0.3), 14 (±0.5) respectively. These results conclude that activity is delivered both in the presence of visible light and dark but efficiency of antibacterial activity is found to be more in visible light in comparison.

Three Hours Ambulatory Blood Pressure: A Surrogate for Daytime Ambulatory Blood Pressure Assessment in the Pakistani Population.

Background Office blood pressure (BP) measurement is affected by the white-coat phenomenon and shows a weaker correlation with the gold standard ambulatory blood pressure monitoring (ABPM). To overcome this limitation, 24-hour ABPM is recommended by the guidelines for the diagnosis of hypertension. However, 24-hour ABPM is expensive and cumbersome, which limits its use in low to middle-income countries like Pakistan. We aimed to assess if an abbreviated ABPM interval can be utilized to diagnose hypertension effectively in our population. Methods A cross-sectional study, involving 150 participants as part of the Post Clinic Ambulatory Blood Pressure (PC-ABP) study, was conducted in the cardiology clinics. Participants ≥18 years of age, who were either hypertensive or referred for assessment of hypertension, were included. Blood pressure (BP) readings were taken with an ambulatory BP monitor over a 24-hour period. After excluding the first hour called the 'white-coat window,' the mean of the first six systolic readings taken every half hour during the daytime was calculated and was called systolic three-hour ABPM. Pearson correlation coefficients were calculated and Bland-Altman plots were constructed to determine the correlation and limits of agreement between mean systolic three-hour ABPM and daytime-ABPM. Receiver operating characteristic (ROC) curve for systolic and diastolic three-hour daytime ABPM and area under the curve (AUC) were analyzed for the level of accuracy in predicting hypertension. Results Of the 150 participants, 49% were male, and 76% of all were hypertensive. The mean age of participants was 60.3 ± 11.9 years. The mean systolic three-hour ABPM was 135.0 ± 16 mmHg. The mean systolic daytime ABPM was 134.7 ± 15 mmHg. Pearson correlation coefficient between mean systolic three-hour ABPM and mean systolic daytime ABPM was 0.85 (p-value <0.001). The limits of agreement were 18 mmHg to -17 mmHg between the two readings on Bland-Altman plots and the area under the curve of the receiver operating characteristic (ROC) was 0.96, suggesting that three-hour systolic ABPM is a good predictor of hypertension. Conclusion Three-hour ABPM correlates well with 24-hour ABPM in the Pakistani population. We recommend considering the use of this abbreviated ABPM to screen hypertension where a full-length ABPM cannot be used. Further studies can be conducted on a larger sample size to determine the prognostic implications of this shortened ABPM.

The effect of calcium hydroxide on dentine composition and root fracture resistance of human teeth: An in vitro study.

The purpose of this study was to evaluate the effect of calcium hydroxide [Ca(OH)2 ] on dentine composition and root fracture resistance. Root canals of fifty extracted mandibular premolars were prepared and divided into five groups (N = 10). Canals were filled with non-setting Ca(OH)2 or left empty and were subsequently stored in phosphate buffered saline for 7, 14, 30, or 90 days, respectively. Ca(OH)2 was then washed out, and roots were separated from the crowns and subjected to fracture strength test. Fractured fragments were examined by scanning electron microscopy (SEM), Fourier transform infrared spectroscopy (FTIR), and X-ray diffraction (XRD). The results showed a significant and progressive reduction in fracture resistance the longer the duration of exposure to Ca(OH)2 , and the fracture resistance in teeth exposed for 90 days was significantly lower than in any other group. SEM revealed cracks in the dentine surfaces that had been exposed to Ca(OH)2 . FTIR showed a significantly lower mineral to matrix ratio in roots exposed to Ca(OH)2 for 30 and 90 days than seen in roots exposed for a shorter duration. XRD analysis revealed a reduction in dentine crystallinity. It was concluded that Ca(OH)2 significantly reduced the fracture resistance of the roots overtime. Exposure to Ca(OH)2 reduced the mineral to matrix ratio and crystallinity of the dentine.

Contact toxicity and biochemical impact of metaldehyde against the white garden snail Theba pisana (Müller, 1774).

BACKGROUND: Terrestrial snails are one of the most damaging threats to sustainable agriculture. Chemical control using molluscicides is the main approach used to combat these agricultural pests. Metaldehyde is the active ingredient in most snail control products in use. However, its toxicity indices and mode of action have scarcely been investigated. For the first time, we characterized the metaldehyde contact toxicity indices against the white garden snail Theba pisana. The biochemical impact of metaldehyde on acetylcholinesterase (AChE), aspartate aminotransferase (AST) and alanine aminotransferase (ALT), alkaline phosphatase (ALP) and glutathione S-transferase (GST) activities and the lipid peroxidation (LPO) level was investigated. RESULTS: The median lethal dose (LD50 ) values at 24, 48 and 72 h of treatment were 11.33, 8.53, and 6.87 µg g-1 body weight (BW), respectively; while, the median lethal time (LT50 ) values were 88.16, 55.85, and 25.67 h when doses of 6, 8, and 12 µg g-1 BW were applied, respectively. In the snails treated with 2.83 and 5.67 µg g-1 BW (» and ½ LD50 at 24 h of treatment) and 2.13 and 4.27 µg g-1 BW (» and ½ LD50 at 48 h of treatment), higher AChE, GST, AST, ALT, and ALP activities as well as higher levels of LPO were observed compared with that of untreated snails. CONCLUSION: Metaldehyde displayed dose- and time-dependent contact toxicity. The biochemical results suggest that metaldehyde may have neurotoxic and cytotoxic actions in terrestrial snails. Application of metaldehyde in ways that could control pest snails and slugs and reduce its negative impact on the environment are discussed. © 2021 Society of Chemical Industry.

Effect of a Flaxseed Lignan Intervention on Circulating Bile Acids in a Placebo-Controlled Randomized, Crossover Trial.

Plant lignans and their microbial metabolites, e.g., enterolactone (ENL), may affect bile acid (BA) metabolism through interaction with hepatic receptors. We evaluated the effects of a flaxseed lignan extract (50 mg/day secoisolariciresinol diglucoside) compared to a placebo for 60 days each on plasma BA concentrations in 46 healthy men and women (20-45 years) using samples from a completed randomized, crossover intervention. Twenty BA species were measured in fasting plasma using LC-MS. ENL was measured in 24-h urines by GC-MS. We tested for (a) effects of the intervention on BA concentrations overall and stratified by ENL excretion; and (b) cross-sectional associations between plasma BA and ENL. We also explored the overlap in bacterial metabolism at the genus level and conducted in vitro anaerobic incubations of stool with lignan substrate to identify genes that are enriched in response to lignan metabolism. There were no intervention effects, overall or stratified by ENL at FDR < 0.05. In the cross-sectional analysis, irrespective of treatment, five secondary BAs were associated with ENL excretion (FDR < 0.05). In vitro analyses showed positive associations between ENL production and bacterial gene expression of the bile acid-inducible gene cluster and hydroxysteroid dehydrogenases. These data suggest overlap in community bacterial metabolism of secondary BA and ENL.