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BACKGROUND: Becker muscular dystrophy is an X-linked, genetic disorder causing progressive degeneration of skeletal and cardiac muscle, with a widely variable phenotype. OBJECTIVE: A 3-year, longitudinal, prospective dataset contributed by patients with confirmed Becker muscular dystrophy was analyzed to characterize the natural history of this disorder. A better understanding of the natural history is crucial to rigorous therapeutic trials. METHODS: A cohort of 83 patients with Becker muscular dystrophy (5-75 years at baseline) were followed for up to 3 years with annual assessments. Muscle and pulmonary function outcomes were analyzed herein. Age-stratified statistical analysis and modeling were conducted to analyze cross-sectional data, time-to-event data, and longitudinal data to characterize these clinical outcomes. RESULTS: Deletion mutations of dystrophin exons 45-47 or 45-48 were most common. Subgroup analysis showed greater pairwise association between motor outcomes at baseline than association between these outcomes and age. Stronger correlations between outcomes for adults than for those under 18 years were also observed. Using cross-sectional binning analysis, a ceiling effect was seen for North Star Ambulatory Assessment but not for other functional outcomes. Longitudinal analysis showed a decline in percentage predicted forced vital capacity over the life span. There was relative stability or improved median function for motor functional outcomes through childhood and adolescence and decreasing function with age thereafter. CONCLUSIONS: There is variable progression of outcomes resulting in significant heterogeneity of the clinical phenotype of Becker muscular dystrophy. Disease progression is largely manifest in adulthood. There are implications for clinical trial design revealed by this longitudinal analysis of a Becker natural history dataset.

A new species of leptostracan of the genus Nebalia, N. holothurophila, is described from southern California. The new species appears closely associated with the warty sea cucumber, Apostichopus parvimensis (H. L. Clark, 1913), although the exact nature of the relationship is unclear. The leptostracans were found in "transfer tubs" after the sea cucumbers were removed from artificial tidepools and placed in fresh seawater within these tubs. The new species differs from other leptostracans in southern California in having a combination of features not shared by any other species., Leptostracans are small (usually 3 to 12 mm) crustaceans characterized by a large, bivalved carapace that covers nearly all of the thorax and the eight thoracic appendages, a short movable [...]

Positive interactions are underrepresented in marine ecology but have a substantial impact on biodiversity and ecosystem stability. Here, we showcase a previously undescribed commensal relationship between two temperate rocky reef fishes in sandy bottom habitats: the rock wrasse (Halichoeres semicinctus) and round stingray (Urobatis halleri). Using snorkel surveys in Big Fisherman's Cove on Santa Catalina Island, we showed that rock wrasse abundances were positively associated with the presence of round stingrays and that round stingrays significantly altered rock wrasse behavior. Specifically, rock wrasse within a 1 m radius of a feeding round stingray spent approximately 40% and 35% more time feeding compared to rock wrasse in proximity of a resting round stingray or a sandy bottom control, respectively. The positive effect of feeding round stingrays on rock wrasse feeding behavior is in response to stingrays disturbing sand as they eat, uncovering small invertebrates for the wrasses to prey on. As round stingrays are one of the most common fishes in southern California, they may impact the fitness of rock wrasses., Interspecific interactions can shape food webs, habitats, and structure marine communities (May 1972; Wootton and Emmerson 2005). Historically, ecological studies have focused primarily on antagonistic interspecific relationships such as predation, [...]

Objective: Although corticosteroids and other treatments for idiopathic sudden sensorineural hearing loss (ISSNHL) have been described, understanding its prognosis without intervention provides valuable information for patient management. The objective of this study is to provide a comprehensive, quantitative statistical analysis of the natural history of untreated idiopathic sudden sensorineural hearing loss (ISSNHL). Study Type and Design: A systematic review and meta‐analyses. Methods: Two independent searches of PubMed, Scopus, Web of Science, and Cochrane Library databases up to June 30, 2022, were performed. Adults with idiopathic sudden sensorineural hearing loss who received placebo or were untreated and had audiometric outcome measures in all study types were reviewed. These data indicative of the natural history of ISSNHL were analyzed, as were study characteristics related to risk of bias. Heterogeneity as assessed via I2 and random effects analyses were performed. Results: Six studies meeting the inclusion criteria yielded 319 untreated patients whose natural history could be assessed. Heterogeneity among studies was moderate, with a variety of reported outcomes. A hearing improvement of at least 30 dB HL was observed in 36% (95% CI 0.28–0.44) of untreated patients, and of at least 10 dB HL was observed in 70% (95% CI 0.57–0.82) of untreated patients at 3 months. The mean hearing gain among untreated patients was 24.0 dB HL (95% CI 2.65–45.37) at 2–3 months. Conclusions: The observed natural history of ISSNHL suggests that patients can regain some hearing without active treatment. In the absence of future studies collecting prospective natural history data from untreated or placebo‐treated ISSNHL patients, the data presented here provide the best available historical control data for reconsideration of results in past ISSNHL studies, as well as a roadmap for design and interpretation of future ISSNHL treatment clinical trials. Furthermore, knowing there is a statistically significant mean hearing gain of 24.0 dB HL in the untreated/placebo group provides an ethical basis for future placebo study of ISSNHL. The current status on ISSNHL management calls for a multi‐institutional, randomized, double‐blind placebo‐controlled trial with validated outcome measures to provide science‐based treatment guidance. Laryngoscope, 134:S1–S15, 2024 [ABSTRACT FROM AUTHOR]

Jellyfish are commonly known as dangerous sea creatures that humans should avoid. Focusing on the newly discovered freshwater jellyfish in the late nineteenth century, this article explores a global history of Craspedacusta sowerbii, a species native to China first noted in nineteenth-century Britain but since traveling the world over. The worldwide distribution of C. sowerbii, as both polyps and medusae, made it a global subject of scientific inquiry. However, no independent study has examined the history behind the origin, circulation, and implication of the freshwater jellyfish and its relationship with marine types. The late nineteenth century was the period when our premodern knowledge of jellyfish transformed from it being purely a marine life to the modern recognition of jellyfish as both marine and freshwater organisms, triggered by the discovery and discussion of the Chinese freshwater jellyfish C. sowerbii among naturalists and philosophers. This article focuses on Arthur de Carle Sowerby's engagement with C. sowerbii in terms of narratives of evolution, nomenclature, and bioinvasion between 1880 and 1941. I argue that jellyfish, as a lowly form of invertebrates, should be taken more seriously by historians of modern China and historians of biology who are interested in the diverse roles of animals in shaping human–animal interactions in the Anthropocene. While the scientific research of jellyfish's global bloom abounds, the interpretation of the global rise of jellyfish could benefit from a historically and culturally bound analysis of this classical animal. This is particularly so as scientists recognized the diverse perceptions of jellyfish. The global jellyfish bloom requires historical perspectives on a topic that has hitherto received scant attention from historians of science. [ABSTRACT FROM AUTHOR]

The article provides a comprehensive overview of the events and developments in the field of micromounting in 2023. It discusses the incorporation of Zoom components into physical micromount events and the potential for a permanent Zoom component in the future. The article also acknowledges the deaths of prominent figures in the micromounting community and their contributions to the field. It highlights various micromounting events and symposia that took place throughout the year, showcasing the global nature of the hobby and the camaraderie among enthusiasts. The text emphasizes the importance of preserving micromounting traditions and providing educational opportunities for students. It concludes by mentioning other small organizations and providing contact information for further information. [Extracted from the article]

Introduction: Peritoneal infiltrating and fibrotic endometriosis, also known as deep endometriosis, is the most severe manifestation of the disease that can cause severe complications including bowel and ureteral stenosis. The natural history of these lesions and the possible effect of hormonal treatments on their progression are undefined. Therefore, we conducted a systematic review and meta‐analysis to investigate whether and how frequently deep endometriosis progresses over time without or with ovarian suppression. This could inform management decisions in asymptomatic and mildly symptomatic patients. Material and Methods: For this pre‐registered systematic review (CRD42023463518), the PubMed and Embase databases were screened, and studies published between 2000 and 2023 that serially evaluated the size of deep endometriotic lesions without or with hormonal treatment were selected. Data on the progression, stability, or regression of deep endometriotic lesions were recorded as absolute frequencies or mean volume variations. Estimates of the overall percentage of progression and corresponding 95% confidence intervals were calculated using a random‐effect model. When studies reported lesion progression as pre‐ and post‐treatment volume means, the delta of the two‐volume means was calculated and analyzed using the inverse variance method. Results: A total of 29 studies were identified, of which 19 studies with 285 untreated and 730 treated patients were ultimately selected for meta‐analysis. The overall estimate of the percentage of lesion progression in untreated individuals was 21.4% (95% CI, 6.8–40.8%; I2 = 90.5%), whereas it was 12.4% during various hormonal treatments (95% CI, 9.0–16.1%; I2 = 0%). Based on the overall meta‐analysis estimates, the odds ratio of progression in treated vs untreated patients was 0.52 (95% CI, 0.41–0.66). During hormonal suppression, the mean volume of deep endometriotic lesions decreased significantly by 0.87 cm3 (95% CI, 0.19–1.56 cm3; I2 = 0%), representing −28.5% of the baseline volume. Conclusions: Untreated deep endometriotic lesions progressed in about one in five patients. Medical therapy reduced but did not eliminate this risk. Given the organ function failure potentially caused by these lesions, the decision whether to use hormonal treatments in asymptomatic or mildly symptomatic women should always be shared, carefully weighing the potential benefits and harms of the two alternatives after extensive counseling. [ABSTRACT FROM AUTHOR]

The article discusses the book "Wonders and Rarities: The Marvelous Book That Traveled the World and Mapped the Cosmos" by Travis Zadeh. The book explores the concept of wonders and rarities and provides examples of things considered wondrous and rare. It focuses on the life and work of ʿImād al-Dīn Zakariyyāʾ al-Kammūnī al-Qazwīnī, particularly his natural history book "ʿAjāʾib al-makhlūqāt wa-gharāʾib al-mawjūdāt" (Wonders of Things Created and Rarities of Matters Existent). The book is divided into three parts, discussing Qazwīnī's influences, his study of natural philosophy, and the dissemination of his work in manuscript and print. The article also touches on the transformation and reception of Qazwīnī's work in the modern era. [Extracted from the article]

LAMA2‐related dystrophies (LAMA2‐RD) constitute a rare neuromuscular disorder with a broad spectrum of phenotypic severity. Our understanding of the genotype–phenotype correlations in this condition remains incomplete, and reliable clinical data for clinical trial readiness is limited. In this retrospective study, we reviewed the genetic data and medical records of 114 LAMA2‐RD patients enrolled at seven research centers in Brazil. We identified 58 different pathogenic variants, including 21 novel ones. Six variants were more prevalent and were present in 81.5% of the patients. Notably, the c.1255del, c.2049_2050del, c.3976 C>T, c.5234+1G>A, and c.4739dup variants were found in patients unable to walk and without cortical malformation. In contrast, the c.2461A>C variant was present in patients who could walk unassisted. Among ambulatory patients, missense variants were more prevalent (p < 0.0001). Although no specific hotspot regions existed in the LAMA2, 51% of point mutations were in the LN domain, and 88% of the missense variants were found within this domain. Functional analysis was performed in one intronic variant (c.4960‐17C>A) and revealed an out‐of‐frame transcript, indicating that the variant creates a cryptic splicing site (AG). Our study has shed light on crucial phenotype–genotype correlations and provided valuable insights, particularly regarding the Latin American population. [ABSTRACT FROM AUTHOR]

ZC4H2 -associated rare disorder (ZARD) is caused by pathogenic variations in the ZC4H2 gene on the X chromosome. This gene codes for a zinc finger protein involved in neural development. ZARD is characterized by highly variable symptoms, potentially influenced by the sex of the individual. The ZC4H2 -Associated Rare Disorder Natural History Study is a prospective natural history study conducted among individuals with ZARD that consists of standardized interviews, developmental assessments, and neurological examinations conducted every six months for two years. In this article, we present data from baseline visits with 40 participants, the largest ZARD cohort studied thus far, focusing on genotype-phenotype correlations and sex differences. Fisher exact, maximum likelihood χ 2, and Mann-Whitney tests were utilized. Males tended to have maternally inherited ZC4H2 pathogenic variations, whereas females tended to have de novo variations (P < 0.001). Female participants were more likely to have contractures at birth (P < 0.01), arthrogryposis multiplex congenita (P < 0.001), spasticity on examination (P < 0.1), and lower limb muscle atrophy (P < 0.05). Male participants were more likely to have seizures (P < 0.1), intermittent pain (P < 0.01), severe vision impairment (P < 0.05), dysphagia for solids (P < 0.01), and generalized muscle atrophy (P < 0.05). Our study suggests there is significant overlap in severity and range of symptoms between males and females, although several symptoms are more common in one sex than the other. Further analysis is needed to better understand how pathogenic variation type affects phenotype. [ABSTRACT FROM AUTHOR]

Among phytophagous insects, life history often evolves as a strategy to cope with seasonality in host plant availability. Whereas specialization often leads to dormancy, aestivation, or longevity, polyphagous species bridge between periods of host availability by exploiting alternative host plants. The aim of the present work was to characterize the life histories of four species of specialist and generalist uni‐ and multivoltine frugivorous fruit flies – Ceratitis capitata Wiedemann, Anastrepha fraterculus Wiedemann, Rhagoletis blanchardi Aczel, and Rhagoletotrypeta pastranai Aczel (all Diptera: Tephritidae) – inhabiting in sympatry in Las Yungas phytogeographical province in Tucumán (northwestern Argentina). For this purpose, infested host plant fruits were sequentially collected during two consecutive years, and flies recovered from these fruits were subjected to demographic experiments to establish longevity and overwintering mechanisms. The results indicated that life cycles were tightly related to host fruit availability, where multivoltine species sequentially exploit different host plants over the year, whereas univoltine species must undergo pupal dormancy to reach the next host fructification period and may extend the duration of dormancy when climatic conditions are acyclic and unpredictable. The present study may broaden knowledge about diapausing Tephritidae in subtropical regions and may contribute to an increased conceptual basis for the improvement of pest control strategies, such as the sterile insect technique (SIT). [ABSTRACT FROM AUTHOR]

Earth has >8 billion people. Scholarly publications number nearly 7 million annually with >1 million in the life and biomedical sciences, and ≥52 professional journals specializing in conservation, ecology, or related disciplines. The challenges of applying ecological data to conservation and wildlife management can easily become overwhelming. Herein we offer reflective perspectives about the changing face of applied knowledge and engagement from our personal employment histories as ecologists working in agency, university, and non‐governmental organization (NGO) biologist positions. We suggest natural history will always be nature's glue, but knowledge steeped mostly in muddy boots and field biology are no longer the soup du jour of our profession. In many ways, new technologies have changed data collection and the scientific questions asked. Arguably, such change is not welcomed by all, but a change in overlap across decades is needed to sustain and improve upon how the planet's biological diversity can coexist with increasingly difficult human conditions. Given that 80% of the people in the United States live in urban areas, with similar numbers internationally, a future possibility may be an even greater divide between wild nature, ecological services, and enjoyment in the field. This is disturbing. Despite fundamental scientific insights that help understand critical components of the natural world, once society loses touch with nature, what will remain? [ABSTRACT FROM AUTHOR]

Insular evolution on archipelagos generates a significant proportion of global biodiversity, yet islands are among the ecosystems most sensitive to accelerating anthropogenic disturbance, introductions of non‐native species, and emerging pathogens, among other conservation challenges. The Alexander and Haida Gwaii archipelagos along North America's North Pacific Coast support a disproportionate number of endemic taxa compared to other high‐latitude terrestrial ecosystems. In this region, endemics in Canada are explicitly protected, but in the United States, endemics have been operationally ignored. We reviewed regional research on terrestrial mammals and endemics from 2000–2022 to guide wildlife management. Elevated regional endemism is due to a combination of deep and shallow temporal processes (i.e., long‐term refugial isolation vs. recent colonization). With adequate sampling, genomic analyses are well‐suited to identifying nuanced patterns of divergence and endemism, thereby facilitating a deeper understanding of regional diversity. We identified 18 mammalian endemics in Southeast Alaska, USA, at varying taxonomic scales, but research effort has significant taxonomic biases and sampling infrastructure remains inadequate. Of the 66 terrestrial and aquatic mammal species in Southeast Alaska, only 55% are represented by ≥10 archived samples over the last 2 decades. Across taxa, major spatial and temporal sampling gaps limit interpretations of wildlife responses to changing environmental conditions. The Tongass National Forest is spread across an island archipelago, and climate change is projected to have disproportionate impacts on island endemics worldwide. In this case, the United States Forest Service is not closely monitoring endemic taxa, as was required by the Tongass Land Management Plan in 1997. Our review underscores a need for increased consideration of how endemism can be incorporated into land and wildlife management across the Alexander Archipelago. Moving forward, we encourage state and federal agencies, Indigenous communities, and international collaborators to continue to partner with natural history biorepositories to ensure strategic wildlife sampling infrastructure is built and made accessible to the broader scientific community as part of the land management process. [ABSTRACT FROM AUTHOR]

Background Flow-related aneurysms (FRAs) associated with cerebral arteriovenous malformations (AVMs) pose a significant therapeutic challenge. Both their natural history and management strategy are still unclear and underreported. FRAs generally increase the risk of brain hemorrhage. However, following AVM obliteration these vascular lesions are expected to disappear or remain stable. Methods We present two cases where growth of FRAs was detected following complete obliteration of an unruptured AVM. Results The first patient presented with proximal middle cerebral artery (MCA) aneurysm growth after spontaneous and asymptomatic thrombosis of the AVM. In our second case, a very small aneurysmal-like dilation located at the basilar apex enlarged to a saccular aneurysm following complete endovascular and radiosurgical obliteration of the AVM. Conclusion The natural history of flow-related aneurysms is unpredictable. In the cases where these lesions are not managed first, there should be close follow-up. When aneurysm growth is evident, active management strategy seems mandatory. [ABSTRACT FROM AUTHOR]

This article provides valuable information on the keeping, breeding, and rearing of North American Wood Turtles. It describes their appearance, habitat, feeding habits, and mating system. The author shares personal experiences in caring for these turtles, including information on their husbandry and feeding. The article also includes data on the size and weight of Wood Turtles in various settings, which can be useful for researchers studying their biology and conservation. [Extracted from the article]

Background: An increasing number of clinical trials for new therapeutic strategies are underway or being considered for dystrophinopathy. Having detailed data on the natural progression of this condition is crucial for assessing the effectiveness of new drugs. However, there's a lack of data regarding the long-term data on the natural course and how it's managed in China. In this study, we offer a comprehensive overview of clinical and molecular findings, as well as treatment outcomes in the Chinese population. Methods: Institutional data on all patients with dystrophinopathy from August 2011 to August 2021 were retrospectively reviewed. The data included geographic distribution, age at diagnosis, molecular findings, and treatment options, such as corticosteroids, cardiac interventions, and clinical outcomes. Results: In total, 2097 patients with dystrophinopathy, including 1703 cases of Duchenne muscular dystrophy (DMD), 311 cases of Becker muscular dystrophy (BMD), 46 cases of intermediate muscular dystrophy (IMD), and 37 cases categorized as "pending" (individuals with an undetermined phenotype), were registered in the Children's Hospital of Fudan University database for dystrophinopathy from August 2011 to August 2021. The spectrum of identified variants included exonic deletions (66.6%), exonic duplications (10.7%), nonsense variants (10.3%), splice-site variants (4.5%), small deletions (3.5%), small insertions/duplications (1.8%), and missense variants (0.9%). Four deep intronic variants and two inversion variants were identified. Regarding treatment, glucocorticoids were administered to 54.4% of DMD patients and 39.1% of IMD patients. The median age at loss of ambulation was 2.5 years later in DMD patients who received glucocorticoid treatment. Overall, one cardiac medicine at least was prescribed to 7.4% of DMD patients, 8.3% of IMD patients, and 2.6% of BMD patients. Additionally, ventilator support was required by four DMD patients. Eligibility for exon skipping therapy was found in 55.3% of DMD patients, with 12.9%, 10%, and 9.6% of these patients being eligible for skipping exons 51, 53, and 45, respectively. Conclusions: This is one of the largest studies to have evaluated the natural history of dystrophinopathy in China, which is particularly conducive to the recruitment of eligible patients for clinical trials and the provision of real-world data to support drug development. [ABSTRACT FROM AUTHOR]

Male ritual combat is an intraspecific agonistic interaction associated with competition for food, mating and territory and has been described for several neotropical snakes. Here, we provide the first record of male-male combat in Spilotes sulphureus in Brazilian Atlantic Forest based on one fortuitous videotaped encounter. Males remained partially coiled in a vertical position during combat and performed various displays (e.g., downward push, tumble, vertical display and orientation, dorsal hyperextension, pinning and lyre-shaped) including some that were also observed during defensive behaviour (e.g., gular inflation, neck S-coil and latero-lateral flattening). Our observations bring new information about the natural history of S. sulphureus and show that this species shares some aspects of male-male combat with other colubrids, including S. pullatus, but a more in-depth study is necessary to understand the reproductive biology of this species. [ABSTRACT FROM AUTHOR]

There is a significant focus on the role of the host microbiome in different outcomes of human parasitic diseases, including cystic echinococcosis (CE). This study was conducted to identify the intestinal microbiome of patients with CE at different stages of hydatid cyst compared to healthy individuals. Stool samples from CE patients as well as healthy individuals were collected. The samples were divided into three groups representing various stages of hepatic hydatid cyst: active (CE1 and CE2), transitional (CE3), and inactive (CE4 and CE5). One family member from each group was selected to serve as a control. The gut microbiome of patients with different stages of hydatid cysts was investigated using metagenomic next-generation amplicon sequencing of the V3–V4 region of the 16S rRNA gene. In this study, we identified 4862 Operational Taxonomic Units from three stages of hydatid cysts in CE patients and healthy individuals with a combined frequency of 2,955,291. The most abundant genera observed in all the subjects were Blautia, Agathobacter, Faecalibacterium, Bacteroides, Bifidobacterium, and Prevotella. The highest microbial frequency was related to inactive forms of CE, and the lowest frequency was observed in the group with active forms. However, the lowest OTU diversity was found in patients with inactive cysts compared with those with active and transitional cyst stages. The genus Agatobacter had the highest OTU frequency. Pseudomonas, Gemella, and Ligilactobacillus showed significant differences among the patients with different stages of hydatid cysts. Additionally, Anaerostipes and Candidatus showed significantly different reads in CE patients compared to healthy individuals. Our findings indicate that several bacterial genera can play a role in the fate of hydatid cysts in patients at different stages of the disease. [ABSTRACT FROM AUTHOR]

This article provides a detailed description of the tadpole of the Hyloxalus nexipus frog species, focusing on its geographic variation and morphological characteristics. The researchers collected specimens from Ecuador and Peru and examined their coloration and measurements. The document emphasizes the importance of studying tadpoles in understanding anuran species. It also discusses the morphology and characteristics of tadpoles belonging to the Hyloxalus genus of poison dart frogs, noting specific differences in the upper jaw sheath and the position of the upper fin in Hyloxalus nexipus tadpoles. The information is based on detailed observations of single specimens in different developmental stages and references other relevant studies on tadpole morphology and taxonomy. [Extracted from the article]

Eyelid dermatitis (ED) affects a cosmetically significant area and leads to patients' distress. Despite ongoing and recent research efforts, ED remains a multidisciplinary problem that needs further characterization. We aimed to evaluate the atopic eyelid dermatitis (AED) frequency in ED patients and to perform their clinical profiling. PubMed databases were searched from 01.01.1980 till 01.02.2024 to PRISMA guidelines using a search strategy: (eyelid OR periorbital OR periocular) AND (dermatitis or eczema). Studies with patch-tested ED patients were included. Proportional meta-analysis was performed using JBI SUMARI software. We included 65 studies across Europe, North America, Asia and Australia, with a total of 21,793 patch-tested ED patients. AED was reported in 27.5% (95% CI 0.177, 0.384) of patch-tested ED patients. Isolated ED was noted in 51.6% (95% CI 0.408, 0.623) of 8453 ED patients with reported lesion distribution, including 430 patients with isolated AED. Our meta-analysis demonstrated that the AED frequency in patch-tested ED patients exceeded the previous estimate of 10%. Isolated AED was noted in adult patients, attending contact allergy clinics. Future studies are needed to elucidate the global prevalence and natural history of isolated AED in adults. [ABSTRACT FROM AUTHOR]

Introduction: Epithelioid hemangioendothelioma (EHE) is an ultra-rare sarcoma, marked by distinctive molecular and pathological features and with a variable clinical behavior. Its natural history is still partially understood, reliable prognostic and predictive factors are lacking and many questions are still open on the optimal management. In the context of EURACAN, a prospective registry specifically dedicated to EHE was developed and launched with the aim of providing, through high-quality prospective data collection, a better understanding of this disease. Study design: Registry-based cohort study including only new cases of patients with a pathological and molecularly confirmed diagnosis of EHE Objectives: To improve the understanding of EHE natural history, validate and identify new prognostic and predictive factors, clarify the activity and efficacy of currently available treatment options, describe treatment pattern. Methods: Settings and participants: It is an hospital-based registry established in centers with expertise in EHE including adult patients with a new pathological and molecularly confirmed diagnosis of EHE starting from the 1st December 2023. The characteristics of each patient in the facility who meets the above-mentioned inclusion criteria will be collected prospectively and longitudinally with follow-up at cancer progression and / or cancer relapse or patient death. It is a secondary use of data which will be collected from the clinical records. The data collected for the registry will not entail further examinations or admissions to the facility and/or additional appointments to those normally provided for routine patient follow-up. Variables: Full details on patients and disease features, treatment and outcome will be collected, according to common clinical practice guidelines developed and shared with all the contributing centers. In addition, data on potential confounders (e.g. comorbidity; functional status etc.) will also be collected. Statistical methods: The data analyses will include descriptive statistics and analytical analyses. Multivariable Cox's proportional hazards model and Hazard ratios (HR) for all-cause or cause-specific mortality will be used to determine independent predictors of overall survival, recurrence and progression. Results: The registry has been joined by 21 sarcoma reference centers across EU and UK, covering 10 countries. Patients' recruitment started in December 2023. The estimated completion date is December 2033 upon agreement on the achievement of all the registry objectives. The already established collaboration and participation of EHE patient's associations involved in the project will help in promoting the registry and fostering accrual. [ABSTRACT FROM AUTHOR]

This article discusses a case of small-cell melanoma with isolated adrenal metastasis. The patient experienced symptoms such as pain, weight loss, and loss of appetite. Imaging tests revealed lesions in the adrenal gland and inguinal region. The article explores the diagnosis, immunocytochemical profile, metastasis rates, and genetic abnormalities associated with this type of tumor. It also emphasizes the challenges in diagnosing small-cell melanoma and the importance of immunocytochemistry in confirming the diagnosis. The text highlights the deceptive features of small-cell melanoma and identifies key mimics. [Extracted from the article]

This article explores the impact of contaminated freshwater on the spread of tropical diseases in Europe, with a focus on the effects of pollutants on the development and transmission of parasites, particularly Schistosoma spp. The authors discuss the role of pesticides, antibiotics, heavy metals, landfills, and microplastics in promoting or disrupting the host-parasite relationship. They emphasize the need for further research and policy adjustments to minimize these threats and develop better disease control strategies. The article also includes a list of references covering various topics related to environmental health, parasitology, and climate change. [Extracted from the article]

The aim of this study is to analyze the effect of an illustrator's visual style in representing nature. The focus is on the author's own artistic project in which the personal relationship with nature is reflected. As for theory, the style used in the representation is seen as a combination of semiotic resources. In this case, the style is inspired by historical images: old still life paintings and illustrations from natural encyclopedias and field guides. The stylistic influences work as a connotative semiotic resource. From a wider perspective, how we represent nature creates social discourses of nature and our attitudes toward it. The results indicate that fact-based communication of nature would also benefit from the emotional effect of esthetic imagery. [ABSTRACT FROM AUTHOR]

Clinical trials seeking to delay or prevent the onset of type 1 diabetes (T1D) face a series of pragmatic challenges. Despite more than 100 years since the discovery of insulin, teplizumab remains the only FDA‐approved therapy to delay progression from Stage 2 to Stage 3 T1D. To increase the efficiency of clinical trials seeking this goal, our project sought to inform T1D clinical trial designs by developing a disease progression model‐based clinical trial simulation tool. Using individual‐level data collected from the TrialNet Pathway to Prevention and The Environmental Determinants of Diabetes in the Young natural history studies, we previously developed a quantitative joint model to predict the time to T1D onset. We then applied trial‐specific inclusion/exclusion criteria, sample sizes in treatment and placebo arms, trial duration, assessment interval, and dropout rate. We implemented a function for presumed drug effects. To increase the size of the population pool, we generated virtual populations using multivariate normal distribution and ctree machine learning algorithms. As an output, power was calculated, which summarizes the probability of success, showing a statistically significant difference in the time distribution until the T1D diagnosis between the two arms. Using this tool, power curves can also be generated through iterations. The web‐based tool is publicly available: https://app.cop.ufl.edu/t1d/. Herein, we briefly describe the tool and provide instructions for simulating a planned clinical trial with two case studies. This tool will allow for improved clinical trial designs and accelerate efforts seeking to prevent or delay the onset of T1D. [ABSTRACT FROM AUTHOR]

Objective: High self‐efficacy is associated with improved self‐care and reduced symptoms in cancer patients but has not been fully interrogated in adults with central nervous system (CNS) cancers. We aimed to identify the relationship between self‐efficacy levels in managing emotions (SEMEM) and social interactions (SEMSI) by examining sample characteristics and symptom burden. Methods: Sample characteristics and patient‐reported outcome (PRO) measures addressing self‐efficacy (PROMIS SEMEM & SEMSI) and symptom burden (MDASI BT or SP) were collected in a novel web‐based study of 158 adult patients diagnosed with rare CNS tumors. Results: The sample was predominantly female (73%), diagnosed with an ependymoma (66%), and had a median age of 45 (19–75). Low SEMEM was associated with a longer duration of symptoms before surgery (r = −0.26) and female gender (92%) among brain tumor (BT) participants and in spinal cord tumors (SCT), those with lower education (r = 0.29). Reporting low SEMSI was associated with being married (42%), lower education (r = 0.22), and a prolonged time with symptoms before surgery (r = 0.29) in those with BTs, with no associations identified in SCT. More severe mood‐related interference (including mood, enjoyment of life, and relationship with others) was associated with lower SEMEM among both locations (r = −0.61 brain, r = −0.28 spine) and SEMSI in BT participants (r = −0.54). Conclusions: Low self‐efficacy was linked to a prolonged time between symptom onset and initial surgery, education, gender, and marital status and was associated with higher mood‐related interference. Understanding characteristics associated with low self‐efficacy underscores a need for future studies to tailor interventions that enhance self‐efficacy. [ABSTRACT FROM AUTHOR]

We report on a subfossil carpometacarpus of an extinct species of lapwing, Vanellus madagascariensis , restricted to Madagascar and inferred to be less than 3,000 years old. Lapwings, comprising 24 species in the New and Old World, are not recorded in the modern Malagasy avifauna. Members of this genus are often well-adapted to human induced habitat modifications. Material of this species has been recovered from three subfossil sites, each site with a single element, in the southwest of the island, including two humeri and a carpometacarpus. The carpal spur of V. madagascariensis was notably more developed than any living species of lapwing. It is presumed that these formidable armaments were employed to defend territories and hinder predation on nest contents and young. Large-scale desiccation in southwestern Madagascar starting about 3,000 years ago would have had a direct impact on local freshwater aquatic environments, in turn diminishing local habitat for this species, and ultimately leading to its extinction. [ABSTRACT FROM AUTHOR]

Background: Chronic respiratory insufficiency from progressive muscle weakness causes morbidity and mortality in late-onset Pompe disease (LOPD). Previous Pompe Registry (NCT00231400) analyses for ≤ 5 years' alglucosidase alfa treatment showed a single linear time trend of stable forced vital capacity (FVC) % predicted. Methods: To assess longer term Pompe Registry data, piecewise linear mixed model regression analyses estimated FVC% predicted trajectories in invasive-ventilator-free patients with LOPD aged ≥ 5 years. We estimated annual FVC change 0–6 months, > 6 months–5 years, and > 5–13 years from treatment initiation, adjusting for baseline age, sex, and non-invasive ventilation. Findings: Among 485 patients (4612 FVC measurements; 8.3 years median follow-up), median ages at symptom onset, diagnosis, and alglucosidase alfa initiation were 34.3, 41.1, and 44.9 years, respectively. FVC% increased during the first 6 months' treatment (slope 1.83%/year; 95% confidence interval: 0.66, 3.01; P = 0.0023), then modestly declined −0.54%/year (−0.79, −0.30; P < 0.0001) during > 6 months–5 years, and −1.00%/year (−1.36, −0.63; P < 0.0001) during > 5–13 years. The latter two periods' slopes were not significantly different from each other (Pdifference = 0.0654) and were less steep than published natural history slopes (−1% to −4.6%/year). Estimated individual slopes were ≥ 0%/year in 96.1%, 30.3%, and 13.2% of patients during the 0–6 month, > 6 month–5 year, and > 5–13 year periods, respectively. Conclusion: These real-world data indicate an alglucosidase alfa benefit on FVC trajectory that persists at least 13 years compared with published natural history data. Nevertheless, unmet need remains since most individuals demonstrate lung function decline 5 years after initiating treatment. Whether altered FVC trajectory impacts respiratory failure incidence remains undetermined. Trial registration: This study was registered (NCT00231400) on ClinicalTrials.gov on September 30, 2005, retrospectively registered. [ABSTRACT FROM AUTHOR]

Efforts to slow biodiversity loss have ushered in an era of proactive conservation for rare species, or species that have any combination of low relative abundance, high habitat specificity, and limited geographic range. Approaches to wildlife management and conservation were often developed for more abundant, generalist species, and frequently do not translate well to rare species. Conservation for rare species therefore requires adapting knowledge, action and inquiry tools for common species to rare species. We therefore present 10 lessons for adapting conservation tools to rare species, each with advice to implement the lessons. Several themes emerge from these lessons. Information scarcity necessitates high standards of information for rare species. Missing rare species information can be complemented with multiple forms of knowledge, particularly when the need for conservation action precludes additional data collection. Investment in depth (over breadth) of information for individuals of rare species can provide alternatives to population trend, which has lower reliability for rare species. Natural history documentation can improve rare species conservation strategies. Finally, curiosity‐driven inquiry can inspire rare species conservation innovation. We hope providing guidance that addresses challenges for rare species will help others bridge the gap between common wildlife approaches and proactive rare species conservation. [ABSTRACT FROM AUTHOR]

Background: An unclassified primary antibody deficiency (unPAD) is a widely heterogeneous clinical entity, recently identified within the spectrum of Inborn Errors of Immunity (IEIs). Since unPAD has been traditionally considered as a mild condition, it has incorrectly received little attention, resulting in the paucity of extensive and comparable studies describing its natural history. To address the gaps in characterizing, understanding, and managing pediatric unPAD patients, the Italian Primary Immunodeficiency Network (IPINet) Ped-unPAD study has recently been launched. Methods: Seventeen IPINeT Centers have expressed interest to participate, and data collection is still on-going. Hereby, we anticipate preliminary key issues emerging from the first 110 enrolled patients, attending three IPINet Centers. Results: A proportion of unPAD patients have experienced a severe infectious phenotype, which required hospitalization in a quarter of patients and antibiotic prophylaxis or Immunoglobulin Replacement Therapy in approximately 10% of patients. In this partial cohort, a mean follow-up (FU) of 5 years confirmed unPAD diagnosis in fifty percent of cases, with the remaining being reclassified as the Transient Hypogammaglobulinemia of Infancy (25%) and other IEIs (25%), such as a Common Variable Immunodeficiency, Selective IgA deficiency, Selective IgM deficiency, and IgG3 subclass deficiency. Conclusions: Despite a phenotype overlap at diagnosis, clinicians should be aware that unPAD is a mutable condition that deserves comprehensive evaluation and long-term monitoring to dissect the final diagnosis for optimal treatment. [ABSTRACT FROM AUTHOR]

Context: Phytophthora cinnamomi has been present in Two Peoples Bay Nature Reserve in Western Australia for decades, with impacts observed in susceptible plant communities. Aims: This study aimed to examine the past and present impact of P. cinnamomi on ecosystems. Methods: The distribution of P. cinnamomi was mapped 1983–1995 and reassessed in 2024. The long-term spread of the pathogen was measured. Plant densities were assessed, dry-weight biomass measured, and visits by avifauna quantified in infested and healthy vegetation. The persistence of chlamydospores was assessed. Key results: Mapping confirmed the widespread distribution of P. cinnamomi in the Reserve, with some areas mapped as disease-free up to 1995 now infested. Phytophthora dieback has spread in Banksia shrubland at an average of 1.5 m/year over a 33-year period. The density of species from the Proteaceae, Fabaceae, Ericaceae, and Hibbertia was significantly reduced; and the biomass of non-sedge species and visits by avifauna lower in infested compared with healthy Banksia shrubland. However, pockets of healthy habitat persist in infested areas and two highly susceptible Ericaceae (Leucopogon glabellus , Styphelia flavescens) were observed in high numbers in infested vegetation. Recovery of chlamydospores confirmed the persistence of the pathogen behind the dieback front. Conclusions: The impact of P. cinnamomi is long term and irreversible, however, some susceptible species may have mechanisms to ensure their persistence through prolific seed production. Implications: Protection of areas of healthy susceptible habitat from the introduction and spread of P. cinnamomi , the implementation of existing control measures and research into alternative measures continue to be a priority. Plant disease caused by the root pathogen Phytophthora cinnamomi has resulted in significant changes to susceptible plant communities in Two Peoples Bay Nature Reserve. The long history of the pathogen in the Reserve, with studies on disease distribution and impact dating from the 1980s, provides an opportunity to examine the past and present impact of P. cinnamomi on ecosystems. This article belongs to the Collection The Natural History of Two Peoples Bay Nature Reserve, Western Australia. [ABSTRACT FROM AUTHOR]

Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem disorders arising from pathogenic variants in glycosylphosphatidylinositol anchor pathway (GPI-AP) genes. Despite associating 24 of at least 31 GPI-AP genes with human neurogenetic disease, prior reports are limited to single genes without consideration of the GPI-AP as a whole and with limited natural history data. In this multinational retrospective observational study, we systematically analyse the molecular spectrum, phenotypic characteristics and natural history of 83 individuals from 75 unique families with IGDs, including 70 newly reported individuals; the largest single cohort to date. Core clinical features were developmental delay or intellectual disability (DD/ID, 90%), seizures (83%), hypotonia (72%) and motor symptoms (64%). Prognostic and biologically significant neuroimaging features included cerebral atrophy (75%), cerebellar atrophy (60%), callosal anomalies (57%) and symmetric restricted diffusion of the central tegmental tracts (60%). Sixty-one individuals had multisystem involvement including gastrointestinal (66%), cardiac (19%) and renal (14%) anomalies. Though dysmorphic features were appreciated in 82%, no single dysmorphic feature had a prevalence >30%, indicating substantial phenotypic heterogeneity. Follow-up data were available for all individuals, 15 of whom were deceased at the time of writing. Median age at seizure onset was 6 months. Individuals with variants in synthesis stage genes of the GPI-AP exhibited a significantly shorter time to seizure onset than individuals with variants in transamidase and remodelling stage genes of the GPI-AP (P = 0.046). Forty individuals had intractable epilepsy. The majority of individuals experienced delayed or absent speech (95%), motor delay with non-ambulance (64%), and severe-to-profound DD/ID (59%). Individuals with a developmental epileptic encephalopathy (51%) were at greater risk of intractable epilepsy (P = 0.003), non-ambulance (P = 0.035), ongoing enteral feeds (P < 0.001) and cortical visual impairment (P = 0.007). Serial neuroimaging showed progressive cerebral volume loss in 87.5% and progressive cerebellar atrophy in 70.8%, indicating a neurodegenerative process. Genetic analyses identified 93 unique variants (106 total), including 22 novel variants. Exploratory analyses of genotype-phenotype correlations using unsupervised hierarchical clustering identified novel genotypic predictors of clinical phenotype and long-term outcome with meaningful implications for management. In summary, we expand both the mild and severe phenotypic extremities of the IGDs, provide insights into their neurological basis, and vitally, enable meaningful genetic counselling for affected individuals and their families. [ABSTRACT FROM AUTHOR]

The majority of high-grade serous carcinomas (HGSC) of the ovary, fallopian tube, and peritoneum arise from the precursor lesion called serous tubal intraepithelial carcinoma (STIC). It has been postulated that cells from STICs exfoliate into the peritoneal cavity and give rise to peritoneal HGSC several years later. While co-existent STICs and HGSCs have been reported to share similarities in their mutational profiles, clonal relationship between temporally distant STICs and HGSCs have been infrequently studied and the natural history of STICs remains poorly understood. We performed focused searches in two national databases from the Netherlands and identified a series of BRCA1/2 germline pathogenic variant (GPV) carriers (n = 7) who had STIC, and no detectable invasive carcinoma, at the time of their risk-reducing salpingo-oophorectomy (RRSO), and later developed peritoneal HGSC. The clonal relationship between these STICs and HGSCs was investigated by comparing their genetic mutational profile by performing next-generation targeted sequencing. Identical pathogenic mutations and loss of heterozygosity of TP53 were identified in the STICs and HGSCs of five of the seven patients (71%), confirming the clonal relationship of the lesions. Median interval for developing HGSC after RRSO was 59 months (range: 24–118 months). Our results indicate that cells from STIC can shed into the peritoneal cavity and give rise to HGSC after long lag periods in BRCA1/2 GPV carriers, and argues in favor of the hypothesis that STIC lesions may metastasize. • Clonal relationship between temporally distant STICs and HGSCs was established in five of the seven cases. • Similar TP53 mutations were detected by performing next generation targeted sequencing. • Median interval for developing HGSC after risk-reducing salpingo-oophorectomy was 59 months. • These findings support the hypothesis that STIC lesions may metastasize. [ABSTRACT FROM AUTHOR]

Since its initial documentation by Knud Krabbe in 1916, numerous studies have scrutinized the characteristics of Krabbe disease (KD) until the identification of the mutation in the GALC gene. In alignment with that, we investigated the natural history of KD spanning eight decades to gain a deeper understanding of the evolutionary trajectory of its mechanisms. Through our comprehensive analysis, we unearthed additional novel elements in molecular biology involving the micropathological mechanism of the disease. This review offers an updated perspective on the metabolic disorder that defines KD. Recently, extracellular vesicles (EVs), autophagy impairment, and α‐synuclein have emerged as pivotal players in the neuropathological processes. EVs might serve as a cellular mechanism to avoid or alleviate the detrimental impacts of excessive toxic psychosine levels, and extracting EVs could contribute to synapse dysfunction. Autophagy impairment was found to be independent of psychosine and reliant on AKT and B‐cell lymphoma 2. Additionally, α‐synuclein has been recognized for inducing cellular death and dysfunction in common biological pathways. Our objective is to assess the effectiveness of advanced therapies in addressing this particular condition. While hematopoietic stem cells have been a primary treatment, its administration proves challenging, particularly in the presymptomatic phase. In this review, we have compiled information from over 10 therapy trials, comparing them based on their benefits and disadvantage. [ABSTRACT FROM AUTHOR]

This article explores the relationship between boring bivalves and their coral hosts in coral reefs. The study conducted field experiments comparing the physiological parameters of Leiosolenus simplex bivalves living in live coral hosts and in corals stripped of their live tissue. Surprisingly, the survival rate and diet composition of the bivalves in both types of hosts were similar, but other indicators of physiological condition, such as pumping rate and oxygen consumption, were lower in bivalves residing in dead coral hosts. The study suggests that while bivalves can survive in dead coral hosts, live coral hosts provide greater food supply and enhance their physiological state. [Extracted from the article]

Habitat specialists have been largely overlooked in old-growth pinyon–juniper woodlands, despite specialists exhibiting heightened sensitivity to anthropogenic habitat loss. Furthermore, small mammal relationships within pinyon–juniper woodlands have most commonly been investigated via species abundance or habitat use, rather than habitat selection, thereby providing limited management metrics. We used the Oscura Mountains Colorado Chipmunk (Neotamias quadrivittatus oscuraensis) as a model organism to evaluate whether old-growth conditions drive resource selection by small mammals associated with pinyon–juniper woodlands. The goal of our study was to determine resources important to the chipmunk to inform management decisions. We evaluated microhabitat selection by testing a priori predictions based on natural history characteristics of the chipmunk and the woodlands. We grouped predictions into habitat characteristics affiliated with or not affiliated with old growth. We tested predictions under a multistage modeling framework using generalized linear mixed models with a binomial response variable of use versus availability. Probability of selection by chipmunks increased with increasing mean juniper diameter and increasing variation of pinyon diameter and decreased with increased distance to rocky escape terrain and increased mean percent grass cover. Our findings support the classification of the Oscura Mountains Colorado chipmunk as an old-growth pinyon–juniper specialist, as the chipmunk displayed disproportionate preference for old-growth microhabitat conditions. We recommend management policies that conserve old-growth multiage stands of pinyons and junipers. Old-growth conditions near outcroppings, escarpments, and large boulders are of particular conservation concern. Further, thinning resulting in increased grass cover may be detrimental to this old-growth pinyon–juniper specialist. [ABSTRACT FROM AUTHOR]

Background Objective Methods Results Conclusion Hen's egg exposure through impaired skin barrier is considered a major mechanism of sensitization to eggs. However, the impact of filaggrin (FLG) gene loss‐of‐function mutations on the natural history of egg sensitization lacks consensus among studies.To evaluate the association between the natural course of egg sensitization and FLG mutations.We used Japanese and the UK birth cohorts (CHIBA and MAAS) to identify the longitudinal patterns of egg sensitization until mid‐school age and examined the relationship between the identified patterns and FLG mutations. Sensitization was assessed using egg white‐specific IgE levels or skin prick tests (SPTs). Egg allergy was confirmed by parental reports and sensitization. Latent class growth analysis identified longitudinal patterns.Three similar patterns of egg sensitization (persistent, early‐onset remitting, and no/low grade classes) were identified in both cohorts, with differing prevalence estimates. The proportion of children with egg allergy in the persistent class at 7 or 8 years of age was 23% (CHIBA) and 20% (MAAS). Consistently in both cohorts, FLG mutations were significantly associated only with the persistent class. Children with FLG mutations had an approximately four‐fold increased risk of being in the persistent sensitization class (RRRs: 4.3, 95%C.I. (1.2–16.0), p = .03 in CHIBA; 4.3 (1.3–14.7), p = .02 in MAAS).FLG loss‐of‐function mutations are associated with persistent egg sensitization in both Japanese and European ethnicities, and the mutations might be a potential biomarker for identifying the risk of persistent egg sensitization/allergy in early infancy. Future studies should incorporate oral food challenges to confirm this relationship. [ABSTRACT FROM AUTHOR]

The Cerebellar Cognitive Affective/Schmahmann Syndrome (CCAS) manifests as impaired executive control, linguistic processing, visual spatial function, and affect regulation. The CCAS has been described in the spinocerebellar ataxias (SCAs), but its prevalence is unknown. We analyzed results of the CCAS/Schmahmann Scale (CCAS-S), developed to detect and quantify CCAS, in two natural history studies of 309 individuals Symptomatic for SCA1, SCA2, SCA3, SCA6, SCA7, or SCA8, 26 individuals Pre-symptomatic for SCA1 or SCA3, and 37 Controls. We compared total raw scores, domain scores, and total fail scores between Symptomatic, Pre-symptomatic, and Control cohorts, and between SCA types. We calculated scale sensitivity and selectivity based on CCAS category designation among Symptomatic individuals and Controls, and correlated CCAS-S performance against age and education, and in Symptomatic patients, against genetic repeat length, onset age, disease duration, motor ataxia, depression, and fatigue. Definite CCAS was identified in 46% of the Symptomatic group. False positive rate among Controls was 5.4%. Symptomatic individuals had poorer global CCAS-S performance than Controls, accounting for age and education. The domains of semantic fluency, phonemic fluency, and category switching that tap executive function and linguistic processing consistently separated Symptomatic individuals from Controls. CCAS-S scores correlated most closely with motor ataxia. Controls were similar to Pre-symptomatic individuals whose nearness to symptom onset was unknown. The use of the CCAS-S identifies a high CCAS prevalence in a large cohort of SCA patients, underscoring the utility of the scale and the notion that the CCAS is the third cornerstone of clinical ataxiology. [ABSTRACT FROM AUTHOR]

Pregnant women with chronic hepatitis B (CHB) are a priority population for hepatitis B care. Identification of HBV status prior to pregnancy would facilitate timely maternal interventions and perinatal care. In our study, we aimed to study the epidemiology of CHB among women of childbearing age (WoCBA, 18–49 years) in Alberta, Canada. We retrospectively analysed Alberta Analytics databases to study CHB epidemiology, natural history and care linkage among WoCBA in Alberta, between April 2012 and March 2021. A Poisson regression was conducted to estimate incidence of newly identified CHB cases and prevalence trends, whereas predictors of care linkage were determined using logistic regression. Age/sex‐adjusted incidence of newly identified CHB among WoCBA between 2015 and 2020 was 36.2/100,000 person/years, highest among individuals aged 30–39 years. Incidence of newly identified CHB decreased from 52.6 to 18.2/100,000 between 2015 and 2020, but prevalence increased from 131.7 to 248.6/100,000 in the same period. Newly identified CHB incident cases (n = 2124) had lower survival rates than age/sex‐matched Canadians, with a standardized mortality ratio of 5.7 (95% CI 2.6–11.0). Increasing age (years) at diagnosis (HR, 1.2; 95% CI 1.1–1.3) was independently associated with mortality. Comorbid hepatocellular carcinoma, anti‐HBV treatment and year of diagnosis were not significantly associated with mortality. Of the 1927 women with 2436 hepatitis B surface antigen‐positive pregnancies from 2012 to 2020, only 27.6% had recommended HBV assessment during pregnancy. Of those women meeting criteria for antiviral therapy to prevent mother‐to‐child transmission (MTCT), only 66.4% received treatment. Suboptimal management during pregnancy and overall lower survival rates highlight the need to address care linkage barriers in women of childbearing age living with CHB. [ABSTRACT FROM AUTHOR]

REHem-AR was created in 2013. The progressive implementation of neonatal screening for haemoglobinopathies in Spanish autonomous communities where the registry had not been implemented, as well as the addition of new centres during this period, has considerably increased the sample of patients covered. In this study, we update our previous publication in this area, after a follow-up of more than 5 years. An observational, descriptive, multicentre and ambispective study of adult and paediatric patients with haemoglobinopathies and rare anaemias registered in REHem was performed. The data are from a cross-sectional analysis performed on 1 June, 2023. The study population comprised 1,756 patients, of whom 1,317 had SCD, 214 had thalassaemia and 224 were diagnosed with another condition. Slightly more than one third of SCD patients (37%) were diagnosed based on neonatal bloodspot screening, and the mean age at diagnosis was 2.5 years; 71% of thalassaemia patients were diagnosed based on the presence of anaemia. Vaso-occlusive crisis and acute chest syndrome continue to be the most frequent complications in SCD. HSCT was performed in 83 patients with SCD and in 50 patients with thalassaemia. Since the previous publication, REHem-AR has grown in size by more than 500 cases. SCD and TM are less frequent in Spain than in other European countries, although the data show that rare anaemias are frequent within rare diseases. REHem-AR constitutes an important structure for following the natural history of rare anaemias and enables us to calculate investment needs for current and future treatments. [ABSTRACT FROM AUTHOR]

Background: Intracranial arachnoid cysts are benign collections of cerebrospinal fluid that are often asymptomatic and discovered incidentally. An interhemispheric location of these lesions is rare, with only a few such cases reported in the literature. Though spontaneous regression of arachnoid cysts has been described in other locations, to date this phenomenon has not been reported in interhemispheric fissure cysts. Observations: In this report, we describe a patient with a large, multiloculated interhemispheric arachnoid cyst diagnosed on prenatal ultrasound. She did not exhibit neurologic deficits or signs of increased intracranial pressure and was observed with serial imaging. After several years of observation, imaging revealed spontaneous and progressive decrease in the cyst size. Lessons: We illustrate a case of regression of an interhemispheric arachnoid cyst in a pediatric patient. To our knowledge, this is the first reported case of spontaneous shrinkage of an arachnoid cyst in this location. Although the current presentation is rare, this reporting adds to the current understanding of natural history of arachnoid cysts and provides an example of radiographical improvement without intervention of a cyst located within the interhemispheric fissure. [ABSTRACT FROM AUTHOR]

Objectives: To determine the natural history of hearing loss and tumor volume in patients with untreated neurofibromatosis type 2 (NF2)-related schwannomatosis. Moreover, we statistically examined the factors affecting hearing prognosis. Methods: This retrospective cohort study was conducted on 37 ears of 24 patients with NF2-related vestibular schwannomatosis followed up without treatment for more than 1 year. We obtained detailed chronological changes in the PTA and tumor volume in each case over time, and the rate of change per year was obtained. Multivariate analysis was also conducted to investigate factors associated with changes in hearing. Results: The average follow-up period was approximately 9 years, and hearing deteriorated at an average rate of approximately 4 dB/year. The rate of maintaining effective hearing decreased from 30 ears (81%) at the first visit to 19 ears (51%) at the final follow-up. The average rate of change in tumor growth for volume was approximately 686.0 mm3/year. This study revealed that most patients with NF2 experienced deterioration in hearing acuity and tumor growth during the natural course. A correlation was observed between an increase in tumor volume and hearing loss (r = 0.686; p < 0.001). Conclusions: Although the hearing preservation rate in NF2 cases is poor with the current treatment methods, many cases exist in which hearing acuity deteriorates, even during the natural course. Patients with an increased tumor volume during the follow-up period were more likely to experience hearing deterioration. Trial registration number 20140242 (date of registration: 27 October 2014). [ABSTRACT FROM AUTHOR]

Introduction: There is a gap in knowledge regarding development of endometriosis and adenomyosis lesions visible at transvaginal ultrasound. The objectives were to evaluate if women with symptoms suggestive of endometriosis or adenomyosis but normal ultrasound examination develop endometriosis or adenomyosis lesions visible at ultrasound over time and if alterations of symptoms over time are associated with ultrasound findings at follow‐up. Material and Methods: This was a prospective cohort study of 100 symptomatic women with normal initial ultrasound examination during 2014–2017 who underwent follow‐up ultrasound examination in 2022. Symptoms suggestive of endometriosis were assessed using visual analog scale at both examinations and minimal clinically important difference of 10 mm was considered as a significant alteration. An examiner with expertise in advanced ultrasound examination of endometriosis performed transvaginal ultrasound examinations in accordance with the consensus protocol by the International Deep Endometriosis Analysis group. Results: At follow‐up ultrasound examination of 100 women, 13 (13% [95% CI 7.1–21.2]) had visible endometriosis or adenomyosis lesions, 8 (8% [95% CI 3.5–15.2]) had endometriosis lesions, and 6 (6% [95% CI 2.2–12.6]) had adenomyosis. At follow‐up, women with endometriosis or adenomyosis lesions reported lower intensity of dysmenorrhea and chronic pelvic pain compared to women without lesions (48 mm [IQR 16–79] vs. 73 mm [IQR 46–85] and 45 mm [IQR 26–57] vs. 57 mm [IQR 36–75], p = 0.087 and p = 0.026, respectively). None of the women with endometriosis or adenomyosis lesions reported increased intensity of dysmenorrhea at follow‐up, compared to 32/86 women (37%) without lesions (p = 0.008). Increased intensity of chronic pelvic pain tended to be less common in women with lesions compared to those without (3/13 [23%] vs. 35/86 [41%], p = 0.223). Conclusions: Our findings suggest that in symptomatic women, endometriosis and adenomyosis lesions visible at ultrasound may develop over time. However, majority of women remain having normal ultrasound examinations despite symptoms. Exacerbation of dysmenorrhea or chronic pelvic pain during follow‐up was not associated with the development of endometriosis or adenomyosis lesions visible at ultrasound, suggesting that even women with less severe symptoms might benefit from a follow‐up ultrasound when indicated. [ABSTRACT FROM AUTHOR]

Oecomys cleberi is an arboreal rodent little known reagarding its natural history, distribution, and ecology. In this paper, we present new records of O. cleberi within a region of the Atlantic Forest, in a transition zone with Cerrado, in the northwestern state of São Paulo. We investigated the effects of the structure of fragmented landscapes on its occurrence at 40 sites in this region. We detected O. cleberi only in seasonal semideciduous forests and palm forests, but not in pastures, wetlands, and young reforestation. Our results indicated that its occurrence was determined by the amount of habitat within a 500 m radius landscape, and extremely low occupancy probabilities in landscapes with less than 25% forest cover (ψ < 0.3). Our results show the importance of the amount of habitat at the landscape scale for the occurrence of Oecomys cleberi, and point out that most of the landscapes in the study region presented low occupancy probabilities by this forest rodent. Although O. cleberi should not be considered as an Atlantic Forest species, it seems to be a resident species in ecotone areas with Cerrado, within the Atlantic Forest domain. Thus, conservation actions are necessary to preserve their populations in these regions. [ABSTRACT FROM AUTHOR]

Reproductive strategies are one of the more fascinating aspects of Anuran biology and are likely affected by species habitat use and availability of reproductive sites. The Cerrado endemic Pithecopus oreades is a habitat specialist that reproduces in seasonal high-altitude rocky streams in Central Brazil. Herein, we describe its reproductive behavior based on observations made during two consecutive reproductive seasons in a high-altitude stream located in an open field area in Central Brazil. The reproductive activity of P. oreades occurs during the rainy season, from the very first rains, and lasts about 3 months. The species is nocturnal, showing a vocalization peak between 20:00 h and 21:00 h. Its vocalization activity was related to total precipitation. The nests, composed by only one folded leaf, are placed on shrubs along streams. The nests, which hang over the stream pools, contain approximately 30 eggs that last about 13 days of incubation, producing about 25 tadpoles per spawning. Males are territorial, remaining in the same places for more than 60 days, defending them through vocalizations and eventual physical combats. Males with a higher body condition usually stay longer in the same territory. We also recorded males displaying satellite behavior. [ABSTRACT FROM AUTHOR]

In primates, it is proposed that social play assists in maintaining social relationships as well as developing motor and cognitive skills. The structure and functions of social play vary greatly by species, but such variation does not strongly follow a phylogenetic pattern, suggesting that socioecological factors must also be examined. Using 3 years of data collected across three troops of wild vervet monkeys in South Africa, we explored play partner preferences and examined their relationship with relevant socioecological factors and vervet natural history to test the motor-training hypothesis and social skills hypotheses. Following the motor-training hypothesis, we hypothesized that we would find similar play frequencies across sexes, given that this species is characterized by high levels of aggression in both males and females. We did not find support for this hypothesis, as male–male dyads played at a higher frequency than female–female and mixed-sex dyads. As predicted by social skills hypotheses, individuals were more likely to play with others of similar dominance rank and with kin over nonkin, indicating that social play may serve social functions, such as testing or establishing dominance relationships, navigating rank trajectory and affiliation maintenance among kin. However, contrary to social skills hypotheses, our study did not consistently support all proposed affiliative aspects, as we found no evidence that vervets play preferentially with grooming partners or individuals of close proximity. Overall, our study contributes insights into the functions and patterns of social play in this specific primate species and underscores the broader importance of considering social and ecological factors in understanding the complexities of social play behaviour. We address critical gaps in our knowledge and provide potential directions for future research that would contribute to a more holistic understanding of primate social dynamics. • We explored factors influencing play partner preferences in wild vervet monkeys. • Vervet monkeys preferred social play partners based on sex, rank and kinship. • Play may function to test relationships, navigate rank and maintain affiliation. • Sex differences in play may result from socioecological factors and adult roles. [ABSTRACT FROM AUTHOR]