Natural History Research Articles

Not-so-mutually beneficial coral symbiosis

The partnership between corals and their intracellular algal symbionts has long been a textbook example of a mutually beneficial association. Here I argue that this view has been made obsolete by a steady accumulation of evidence over the past three decades. The coral-algal relationship is perhaps better viewed as one of domestication - think of it like a cattle farm, in which the coral is the farmer and the algae are the cows. I synthesize old and new evidence in support of this updated view and highlight remaining knowledge gaps, the largest of which continues to be the natural history of algal symbionts.

Natural history of PIRADS-2 lesions on serial multiparametric magnetic resonance imaging: Real-life data from an Academic Center

Introduction/BackgroundThe natural history of prostate imaging reporting and data system (PIRADS) score 2 lesions on serial mpMRIs is largely unknown. Herein, we aimed to evaluate the patients with PIRADS-2 index lesions by using serial mpMRI scans to reveal the rates of mpMRI upgrade in PIRADS score and prostate cancer (PCa) detection. Methods/MaterialsAll mpMRI scans with a PIRADS-2 index lesion from our mpMRI database were evaluated retrospectively. Data from 214 biopsy-naïve patients with a PIRADS-2 index lesion on the initial mpMRI who then underwent at least 1 follow-up mpMRI were reevaluated by an experienced uroradiologist and only those (n = 172) who had a PIRADS-2 index lesion on the initial mpMRI according to PIRADS v2.1 were included in the study. mpMRI progression was defined as the detection of any PIRADS ≥3 lesion at follow-up mpMRI. Histopathological results were evaluated in patients undergoing biopsy upon mpMRI progression. ResultsA total of 172 patients with a mean age of 60.1 ± 8.6 years were evaluated. The median PSA at baseline mpMRI was 4.7 (IQR; 3.3–6.7) ng/dl. Overall mpMRI progression was detected in 54 patients (31.4%), 37 were upgraded to PIRADS-3, 16 to PIRADS-4, and one to PIRADS-5. Multivariate logistic regression analysis revealed that a PSA increase of ≥25% during follow-up was the only predictor of mpMRI upgrade (P = 0.019, OR: 2.384). 30 out of 54 patients underwent a prostate biopsy and PCa was detected in 15 patients; 5 with ISUP grade 1, 10 with ISUP grade 2. ConclusionsAlmost half of the patients with a PIRADS-2 index lesion were upgraded to PIRADS ≥3 when evaluated with serial mpMRI when a PSA increase of ≥25% was observed during follow-up. PCa was detected in half of the patients who underwent a biopsy. Serial mpMRI can be recommended when monitoring patients with elevating PSA ≥25%, a prostate biopsy can be considered upon a mpMRI progression.

Predation of the social wasp Polybia occidentalis (Hymenoptera:Vespidae) by the water scorpion Ranatra obscura (Hemiptera:Nepidae)

The genus Ranatra (Nepomorpha) is a formidable predator with significant importance in trophic webs, playing a crucial role in regulating aquatic and semi-aquatic communities through population control. However, studies on the diet of Ranatra species remain scarce, particularly in poorly understood Amazonian regions such as Marajó Island. This lack of data hampers our understanding of species behavior and the development of targeted conservation actions needed to maintain the ecological balance of complex networks, especially in areas under anthropogenic threat. Our study was conducted in the municipality of Salvaterra, within the Marajó Island archipelago, where we observed predation of the predatory species Polybia occidentalis (Olivier, 1791) by Ranatra obscura Montandon, 1907. We captured the insects using a sieve in the water column of a stream, which had been previously divided into three 50-m sections. Subsequently, we monitored Ranatra's behavior during the predation event, revealing its predatory aggressiveness and hunting ability—traits often underestimated due to its piercing-sucking mouthparts. This new record enhances our understanding of the diet and natural history of Nepomorpha and Ranatra, and highlights the importance of allochthonous material for predator species, revealing their role in terrestrial and semi-aquatic ecological networks.

Clinical and economic value of bulevirtide in the treatment of chronic hepatitis D

Background/AimsBulevirtide (Hepcludex®) is the first drug approved for the treatment of chronic hepatitis D (CHD), unlike the current off-label treatment (PEG-IFN-α), limited in clinical practice and associated with post-treatment relapses. In a hypothetical cohort of CHD patients in Spain, the study aim was to compare the efficiency of bulevirtide with PEG-IFN-α in terms of clinical events avoided and associated cost savings. MethodsA validated economic model reflecting the natural history of the disease was used to project lifetime liver complications and costs for two hypothetical cohorts treated with bulevirtide or PEG-IFN-α. The model considered progression to complications such as decompensated cirrhosis (DCC), hepatocellular carcinoma (HCC), liver transplantation (LT), and death. The efficacy rates used at 24 and 48 weeks were defined as the combined response rate for bulevirtide and undetectable HDV RNA to PEG-IFN-α. The numbers of clinic events and associated costs were evaluated from the perspective of the National Healthcare System. ResultsIn a hypothetical cohort of 3882 patients, bulevirtide reduced the numbers of complications events in comparison to PEG-IFN-α (152 DCC, 113 HCC, 11 LT, and 321 deaths over a lifetime). This was associated with a reduction of event-related costs of €11,837,044 (DCC €1,138,059; HCC €1,503,583; LT €7,834,291; and death €1,361,111). ConclusionIn patients with CHD, bulevirtide could prevent a significant number of clinical events compared to PEG-IFN-α and contribute to cost savings through these reduction in liver complications. Further testing for hepatitis D virus is needed so that more patients can benefit from bulevirtide.

Frequency of Asymptomatic Optic Nerve Enhancement in 203 Patients With MOG Antibody-Associated Disease.

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a distinct CNS demyelinating disease. The rate of asymptomatic optic nerve enhancement on MRI has not been explored in patients with MOGAD. An improved understanding of this would guide clinical practice and assessment of treatment efficacy. We aimed to determine the frequency of asymptomatic optic nerve enhancement in MOGAD. This was a retrospective review of patients evaluated at Mayo Clinic with MOGAD between January 1, 2000, and August 1, 2021 (median follow-up 1.6 [range 1-19] years). MRI studies were reviewed by masked neuroradiologists. Scans performed within 30 days of ON attack were classified as attack scans. Images obtained for routine surveillance, before ON attack, or at the time of non-ON attack were classified as interattack scans. Five hundred sixty-six MRIs (203 unique patients, 53% female) were included. Interattack MRIs represented 341 (60%) of the scans (median 36 days post-ON [range -1,032 to 6,001]). Of the interattack scans, 43 of 341 (13%), 30 unique patients, showed optic nerve enhancement. The enhancement was located at prior sites of ON in 35 of 43 (81%). Among the 8 patients with enhancement in new optic nerve areas, 6 had acute disseminated encephalomyelitis without an eye examination at the time of the MRI and 2 had preceding ON without imaging. Long-term visual outcomes showed no significant difference between those with and without asymptomatic enhancement, with improved visual acuity in most patients. Asymptomatic optic nerve enhancement occurred in 13% of interattack MRIs, the majority in patients with prior ON and occurring at prior sites of optic nerve enhancement. New asymptomatic optic nerve enhancement in areas without prior ON was rare. These findings are important for understanding the natural history of MOGAD, the interpretation of symptoms or response to treatment, and the adjudication of attacks in clinical trials.

The level of expression of HPV16 early transcripts is not associated with the natural history of cervical lesions.

The natural history of cervical cancer is closely linked to that of high-risk human papillomaviruses (HPV) infection. It is recognized that upon HPV DNA integration, partial or complete loss of the E2 open reading frame precludes expression of the corresponding protein, resulting in upregulation of the E6 and E7 viral oncoproteins. To better characterize HPV16 infection at the cervical level, viral load, viral DNA integration, and viral early transcript expression (E2, E5, and E6) were analyzed in a series of 158 cervical specimens representative of the full spectrum of cervical disease. Overall, the frequency of early transcript detection varied from 45% to 90% and tended to increase with lesion severity. In addition, the levels of E2, E5, and E6 transcript expression were slightly higher in high-grade lesions than in cervical specimens without abnormalities. Notably, early transcript expression was clearly associated with viral load, and no inverse correlation was found between the expression of E2 and E6 transcripts. No clear association was found between early transcript expression and HPV16 DNA integration, with the exception that samples with a fully integrated HPV16 genome did not harbor E2 or E5 transcripts. In conclusion, early HPV16 transcript expression appears to be associated with viral load rather than lesion grade. From a practical point of view, quantification of HPV16 early transcripts is difficult to translate into a relevant biomarker for cervical cancer screening.

Stereotactic radiotherapy for localized prostate cancer: 10-year outcomes from three prospective trials

Background and purposeStereotactic ablative radiotherapy (SABR) is growingly accepted for the treatment of localized prostate cancer with recent randomized trials showing non-inferiority compared to conventional or moderately hypofractionated radiotherapy. The natural history of prostate cancer necessitates extended surveillance for recurrence; however, there are few prospective studies reporting long-term outcomes. Materials and methodsThis study included patients with low and intermediate risk localized prostate cancer from three Canadian clinical trials enrolled from 2006-2013. All patients received SABR to the prostate consisting of 35-40 Gy in 5 fractions over 11-29 days. PSA, distant metastasis, and vital status were prospectively recorded. Occurrence of second malignancy after treatment was assessed by chart review and classified using modified Cahan's criteria. Results267 patients were included. Median follow up was 10.3 years (IQR 7.8 – 12.7). 10-year BF (95% CI) was 7.7% (3.9-11.5). 10-year OS, PCSS, and FFM were 84.1% (79.3 – 89.1%), 99.2% (98.1 – 100), and 98.8% (97.5-100), respectively. 27/267 (10.1%) patients experienced a SM, with 6/27 patients (22.2%) classified as having a SM likely (n=3) or possibly (n=3) related to prior radiotherapy. 10-year freedom from SM was 89.2%. ConclusionSABR shows excellent long-term disease control for low and intermediate risk localized prostate cancer. Patients treated for prostate cancer have a moderate risk of second malignancy, consistent with background rates for the population.

Targeting the Tie-2 Receptor with Faricimab in Central Serous Chorioretinopathy: A Case Series Motivated by a Genetic Finding: Faricimab in central serous chorioretinopathy

PurposeTo investigate the effects of faricimab, a bispecific antibody targeting VEGF and Ang-2 (thus increasing Tie-2 activity), in patients with CSC based on a recent genetic study that implicated Tie-2 signaling in CSC pathophysiology. DesignA retrospective interventional multicenter case series. MethodsWe included patients with chronic CSC (persistent or recurrent SRF for ≥6 months) who received at least one faricimab 6mg injection between January 1 2022 and April 1 2024. Study sites included Massachusetts Eye and Ear and University of California San Francisco. Patients with evidence of a choroidal neovascular membrane on color photos, optical coherence tomography (OCT) and/or fluorescein angiography were excluded. 16 eyes (15 patients) met the inclusion criteria. The median central macular thickness at each visit from 52 weeks before to 52 weeks after the first faricimab injection was calculated using automated Heidelberg Spectralis ETDRS subfield measurements. ResultsPrior to treatment with faricimab, CSC had been diagnosed a median of 4.1 years (range 0.9–8) earlier and SRF (and intraretinal fluid [IRF] in a subset) had been continuously present for a median of 30 weeks (range 9–257). Decreases in macular thickness were observed in 14/16 eyes after the first faricimab injection and in 14/16 eyes in the full follow-up period compared with prior, 10 of which experienced complete resolution of SRF following the start of the first series of injections at a median of 4 weeks (range 2—25). One eye worsened after the second injection. The median improvement in macular thickness was 40μm [range -3 to 89.5] (P=0.0007). Upon review of OCT images, reductions in macular thickness were consistent with reductions in SRF and/or IRF. Visual acuity improved by 2 lines or more in 6/16 eyes. ConclusionsIn a retrospective case series of patients with chronic CSC and longstanding SRF, we observed improvement in macular thickness after intravitreal faricimab. While the small number of patients and variable natural history of CSC preclude definitive conclusions, a randomized controlled trial seems warranted.

An expert discussion on the atypical hemolytic uremic syndrome nomenclature—identifying a road map to precision: a report of a National Kidney Foundation Working Group

The term atypical hemolytic uremic syndrome has been in use since the mid-1970s. It was initially used to describe the familial or sporadic form of hemolytic uremic syndrome as opposed to the epidemic, typical form of the disease. Over time, the atypical hemolytic uremic syndrome term has evolved into being used to refer to anything that is not Shiga toxin-associated hemolytic uremic syndrome. The term describes a heterogeneous group of diseases of disparate causes, a circumstance that makes defining disease-specific natural history and/or targeted treatment approaches challenging. A working group of specialty-specific experts in the thrombotic microangiopathies was convened to review the validity of this broad term in an era of swiftly advancing science and targeted therapeutics. A Delphi approach was used to define and interrogate some of the key issues related to the atypical hemolytic uremic syndrome nomenclature.

Systemic complications of Aicardi Goutières syndrome using real-world data

ObjectiveAicardi Goutières Syndrome (AGS) is a rare genetic interferonopathy associated with diverse multisystemic complications. A critical gap exists in our understanding of its longitudinal, systemic disease burden, complicated by delayed diagnosis. To address this need, real-world data extracted from existing medical records were used to characterize the longitudinal disease burden. MethodsAll subjects (n = 167) with genetically confirmed AGS enrolled in the Myelin Disorders Biorepository Project (MDBP) were included. As available in medical records, information was collected on subject demographics, age of onset, and disease complications. Information from published cases of AGS (2007–2022; n = 129) with individual-level data was also collected. Neurologic severity at the last available encounter was determined by retrospectively assigning the AGS Severity Scale [severe (0–3), moderate (4–8), and mild (9–11)]. ResultsThe genotype frequency in the natural history cohort was TREX1 (n = 26, 15.6 %), RNASEH2B (n = 50, 29.9 %), RNASEH2C (n = 3, 1.8 %), RNASEH2A (n = 7, 4.2 %), SAMHD1 (n = 25, 15.0 %), ADAR (n = 34, 20.4 %), IFIH1 (n = 19, 11.4 %), and RNU7–1 (n = 3, 1.8 %). The median age of systemic onset was 0.15 years [IQR = 0.67 years; median range by genotype: 0 (TREX1) - 0.62 (ADAR) years], while the median neurological onset was 0.33 years [IQR = 0.82 years; median range by genotype: 0.08 (TREX1) - 0.90 (ADAR) year].The most common early systemic complications were gastrointestinal, including dysphagia or feeding intolerance (n = 124) and liver abnormalities (n = 67). Among postnatal complications, thrombocytopenia appeared earliest (n = 29, median 0.06 years). Tone abnormalities (axial hypotonia: n = 145, 86.8 %; dystonia: n = 123, 73.7 %), irritability (n = 115, 68.9 %), and gross motor delay (n = 112, 7.1 %) emerged as the most prevalent neurological symptoms. Previously published case reports demonstrated similar patterns.The median AGS score for the entire cohort was 4 (IQR = 7). The most severe neurologic phenotype occurred in TREX1-related AGS (n = 19, median AGS severity score 2, IQR = 2). Time to feeding tube placement, chilblains, early gross motor delay, early cognitive delay, and motor regression were significantly associated with genotype (Fleming-Harrington log-rank: p = 0.0002, p < 0.0001, p = 0.0038, p < 0.0001, p = 0.0001, respectively). Microcephaly, feeding tube placement, and seizures were associated with lower AGS scores (All: Wilcoxon rank sum test, p < 0.0001).Among the qualifying case reports (n = 129), tone abnormalities were the most prevalent disease feature, with spastic quadriplegia reported in 37 of 96 cases (38.5 %) and dystonia in 30 of 96 cases (31.2 %). ConclusionsAGS is a heterogeneous disease with multi-organ system dysfunction that compounds throughout the clinical course, resulting in profound neurological and extra-neurological disease impact. Systemic symptoms precede neurologic disease features in most cases. Disease onset before the age of one year, microcephaly, feeding tube placement, and seizures were associated with worse neurological outcomes. This work will inform evidence-based clinical monitoring guidelines and clinical trial design.

Spinal presentations in children with Spinal Muscular Atrophy type 1 following Gene Therapy treatment with onasemnogene abeparvovec – the SMA REACH UK network experience

Spinal muscular atrophy (SMA) is a neuromuscular disorder of mainly early onset and variable severity. Prior to the introduction of disease modifying therapies (DMTs), children with SMA type 1 typically died before 2 years of age and management was primarily palliative. Onasemnogene abeparvovec (OA), nusinersen, and risdiplam are novel DMTs which ameliorate the effects of the underlying genetic defect at least partially making SMA a treatable condition. Survival and achievement of previously unmet developmental milestones result in treated SMA type 1 children spending more time upright than expected based on the natural history of the treatment-naïve condition. Consequently, spinal asymmetry and kyphosis, features not typically seen in untreated SMA type 1 children due to early mortality, are increasingly common complications. Precise data regarding their prevalence, severity, and management are currently limited. This study describes the spinal features and management in 75 children with SMA type 1 who received OA between March 2021 and December 2022. Retrospective analysis from SMA REACH UK data showed that 44/75 (59%) clinically had spinal asymmetry and 37 (49%) had kyphosis. This study aims to raise awareness of this important feature as part of the changed natural history of SMA type 1 post OA treatment.

Documented Initial Growth Does Not Necessarily Indicate Treatment for Sporadic Vestibular Schwannomas.

To report the natural history of vestibular schwannoma (VS) who elected an initial period of observation and identify prognostic factors. To describe the natural history of growing VS, identify prognostic factors, and review the most recent literature. Prospective cohort study and literature review. Tertiary referral center. Adult patients diagnosed with a VS between January 1998 and February 2023. Magnetic resonance imaging surveillance. Growth-free survival and subsequent growth-free survival considering significant growth as a change in size of ≥2 mm. Of 430 patients undergoing observation with serial magnetic resonance imaging, 193 (44.9%) demonstrated significant growth at a median of 1.6 years (interquartile range, 0.94-3.51). Of the 193 patients who presented an initial episode of growth, 137 elected to continue to be observed. Of those, 83 (60.6%) presented a second episode of growth at a median of 1.43 years (interquartile range, 1.00-2.49). The subsequent growth-free survival rates (95% confidence interval) at 1, 3, 5, 7, and 10 years were 91.79% (87.26-96.56%), 64.44% (56.56-73.42%), 52.52% (44.23-62.35%), 42.23% (33.92-52.56%), and 36.11% (27.89-46.76%), respectively. Univariate and multivariate Cox regression analyses showed that EC tumor location and initial growth rate were significant predictors of subsequent growth. Close observation after documentation of growth is an appropriate management in well-selected cases given that only around 56% of the tumor will continue to grow. Extracanalicular tumor location and initial growth rate are promising prognostic factors to help determine which patient would be a better candidate for close surveillance after initial documentation of growth.

Helmet therapy for positional plagiocephaly: A systematic review of the tools used to diagnose, offer treatment recommendations, and assess treatment outcomes of the condition

IntroductionPositional plagiocephaly (PP) is an asymmetric deformation of the skull as a consequence of external forces acting on a normal and pliable skull. The prevalence of PP ranges between 19.6% and 46.6%. Treatment options for PP include repositioning, physical therapy, and helmet orthoses. Consensus regarding the treatment of PP remains elusive due to the condition’s imprecise natural history, dissimilar diagnostic strategies, and unreliable data asserting treatments’ efficacy. Our aim was to conduct a systematic review of the tools used to diagnose, suggest treatment strategies, and assess outcomes for PP. MethodsWe used the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines to query a variety of databases. Four hundred and forty-four articles were imported into Covidence© - a screening and data extraction tool for conducting systematic reviews. ResultsAfter a series of screenings, 60 articles met inclusion criteria and were reviewed in detail. The information was entered into a data extraction list consisting of sixteen variables in the categories of general information, diagnostic strategies, treatment modalities, and treatment outcomes. Most articles reported retrospective case series which yielded level 4 evidence. Only 1 article reported the results of a randomized and blinded outcomes’ assessment trial. Such article yielded level 1 evidence and was rated as high quality for allocation, concealment, and blinding of personnel. ConclusionThe strategies used to diagnose and classify PP are a disparate list of measures most of which have no parallels making it impossible to offer treatment recommendations and generate generalizable knowledge.

Snake diversity, occupancy, and detection on Thailand's largest university campus.

More than 240 species of snake have been described from Thailand, yet basic natural history and ecology for this group of animals remains scarce in human disturbed environments despite conservation and human medical significance of them in these habitats. We studied snake diversity at Walailak University from March to December 2023, the largest university campus in Thailand (1525 hectares) through standardized walking surveys, opportunistic notifications and observation, road surveys, and traps and evaluated diversity using the Shannon diversity index (H), Pielou's evenness of species (J), detection probabilities (p), and occupancy probabilities (ψ). We observed 195 snakes (21 species, 7 families) at Walailak University and overall snake diversity (H = 2.60) and evenness (J = 0.85) were quite high, although specific site diversity (range H = 0-1.94) and evenness (range J = 0.67-0.91) within the university were variable. The probability of detecting snakes (range p = .10-.40) increased with increasing humidity and decreased with increasing amount of rain, temperature, and wind; site occupancy probability decreased with increased canopy height and increased with increased distance to buildings, increased canopy height loss, increased distance to roads, and increased distance to water. Our findings of relatively high snake diversity, presence of snake species potentially dangerous to humans (six species), and protected snake species (Thailand WARPA and international CITES, five species) suggest significant potential for conservation and further research at Walailak University and other campuses in Thailand.

Natural History and Longitudinal Outcomes of Patients with Mild-to-Moderate Ulcerative Proctitis or Ulcerative Proctosigmoiditis: A Single-Center, Retrospective Study.

Ulcerative proctitis (UP) and ulcerative proctosigmoiditis (UPS) are special forms of ulcerative colitis. The disease burdens of UP and UPS are increasing. However, the natural history and prognosis of patients with mild-to-moderate UP or UPS have been poorly studied. The aim of this study is to evaluate the characteristics, short-term and long-term outcomes of patients with mild-to-moderate UP or UPS followed at a single center over a period of 3years. A retrospective study of patients with UP and UPS followed at a single center from 2021 to 2023 was performed. After scanning for inclusion and exclusion criteria, patient demographics and clinical data were collected. Disease severity was accessed by Myao endoscopy scores and ulcerative colitis endoscopic index of severity. Endoscopic improvement was defined as decreased scores at the last follow-up. Disease extension was defined as endoscopic evidence of a greater extent of disease at the last follow-up. A total of 414 patients were included for evaluation, of which 292 patients (70.53%) were at mild disease stage, and 122 patients (29.47%) had moderate diseases. At the last follow-up, 315 patients (76.09%) showed endoscopic improvement, and 247 patients (59.66%) showed endoscopic remission. An overall extension rate of 11.11% was observed at the last follow-up. Subgroup analysis revealed a better prognosis in younger patients. The disease extension rate was higher in moderate group and symptomatic patients. Promising outcomes were observed in patients with mild-to-moderate ulcerative proctitis or ulcerative proctosigmoiditis. Disease severity and symptoms are correlated with the risk of extension.

Incidental brain tumor findings in children: prevalence, natural history, management, controversies, challenges, and dilemmas.

Incidental brain tumor findings in children involve the unexpected discovery of brain lesions during imaging for unrelated reasons. These findings differ significantly from those in adults, requiring a focus on pediatric-specific approaches in neurosurgery, neuroimaging, and neuro-oncology. Understanding the prevalence, progression, and management of these incidentalomas is crucial for informed decision-making, balancing patient welfare with the risks and benefits of intervention. Incidental brain tumors are observed in about 0.04-5.7% of cases, with most suspected low-grade lesions in children showing a benign course, though up to 3% may undergo malignant transformation. Treatment decisions are influenced by factors such as patient age, tumor characteristics, and family anxiety, with conservative management through surveillance often preferred. However, upfront surgery may be considered in cases with low surgical risk. Initial follow-up typically involves a comprehensive MRI after three months, with subsequent scans spaced out if the lesion remains stable. Changes in imaging or symptoms during follow-up could indicate malignant transformation, prompting consideration of surgery or biopsy. Several challenges and controversies persist, including the role of upfront biopsy for molecular profiling, the use of advanced imaging techniques like PET-CT and magnetic resonance spectroscopy, and the implications of the child's age at diagnosis. These issues highlight the need for further research to guide management and improve outcomes in pediatric patients with incidental brain tumor findings.

The functional state of the respiratory system of the patients with proximal spinal muscular atrophy 5q (SMA 5q): from the natural history of the disease to the era of pathogenetic therapy. Problems and expectations

Proximal spinal muscular atrophy 5q is an autosomal recessive neuromuscular disease. This disorder is characterized by progressive symptoms of flaccid paralysis and muscular atrophy due to degeneration of α-motor neurons in the anterior horns of the spinal cord. The disease is caused by the lack of a fully functional SMN protein due to homozygous deletion of exon 7 in the SMN1 gene. For a long time, spinal muscular atrophy was the leading genetic cause of infant mortality. With the introduction of modern pathogenetic treatment methods that modify the disease, the duration and quality of life of patients increases, and a “blurring of boundaries” between types of spinal muscular atrophy and the formation of new phenotypes happens. In this regard, approaches to patient management, including approaches to the assessment and correction of respiratory disorders, are changing. The review of the available medical literature was conducted. The clinical studies on spinal muscular atrophy in the natural course of the disease and with the use of pathogenetic drugs were analyzed, as well as the data on the state of the respiratory system of the patients.

Inflammatory bowel disease genomics, transcriptomics, proteomics and metagenomics meet artificial intelligence.

Various extrinsic and intrinsic factors such as drug exposures, antibiotic treatments, smoking, lifestyle, genetics, immune responses, and the gut microbiome characterize ulcerative colitis and Crohn's disease, collectively called inflammatory bowel disease (IBD). All these factors contribute to the complexity and heterogeneity of the disease etiology and pathogenesis leading to major challenges for the scientific community in improving management, medical treatments, genetic risk, and exposome impact. Understanding the interaction(s) among these factors and their effects on the immune system in IBD patients has prompted advances in multi-omics research, the development of new tools as part of system biology, and more recently, artificial intelligence (AI) approaches. These innovative approaches, supported by the availability of big data and large volumes of digital medical datasets, hold promise in better understanding the natural histories, predictors of disease development, severity, complications and treatment outcomes in complex diseases, providing decision support to doctors, and promising to bring us closer to the realization of the "precision medicine" paradigm. This review aims to provide an overview of current IBD omics based on both individual (genomics, transcriptomics, proteomics, metagenomics) and multi-omics levels, highlighting how AI can facilitate the integration of heterogeneous data to summarize our current understanding of the disease and to identify current gaps in knowledge to inform upcoming research in this field.

Herbarium collections remain essential in the age of community science

The past decade has yielded more biodiversity observations from community science than the past century of traditional scientific collection. This rapid influx of data is promising for overcoming critical biodiversity data shortfalls, but we also have vast untapped resources held in undigitized natural history collections. Yet, the ability of these undigitized collections to fill data gaps, especially compared against the constant accumulation of community science data, remains unclear. Here, we compare how well community science (iNaturalist) observations and digitized herbarium specimens represent the diversity, distributions, and modeling needs of vascular plants in Canada. We find that, despite having only a third as many records, herbarium specimens capture more taxonomic, phylogenetic, and functional diversity and more efficiently capture species’ environmental niches. As such, the digitization of Canada’s 7.3M remaining specimens has the potential to more than quintuple our ability to model biodiversity. In contrast, it would require over 27M more iNaturalist observations to produce similar benefits. Our findings indicate that digitizing Earth’s remaining herbarium specimens is likely an efficient, feasible, and potentially critical investment when it comes to improving our ability to predict and protect biodiversity into the future.

Short segment linear "flaps" of the abdominal aorta: proposed mechanism of origin and evaluation of natural history via retrospective imaging review.

Luminal linear findings (LLF) of the abdominal aorta are often called aortic "flaps," triggering concern for acute aortic syndrome. However, these "flaps" are unlikely to represent intimomedial dissection given isolation to the abdominal aorta, short length, and incidental discovery. We aim to characterize the etiology and stability of LLF. CT reports finalized January 2021-December 2022 were queried for terms "focal dissection," "dissection flap," "linear filling defect," and "linear flap." Patients were excluded for thoracoabdominal dissection, LLF in non-aortic vessel, no prior contrast-enhanced imaging, and less than 6months between exams. Index exam reviewed for presence of LLF, atherosclerosis, and aortic caliber at LLF site. Prior exam assessed for aortic caliber and aortic findings at subsequent LLF site. Patients with unchanged LLF between exams were categorized "Stable" and patients with interval change "Dynamic." Seven hundred and two cases identified. After exclusions, imaging from 70 patients reviewed; 1 excluded for no LLF. Stable Cohort of 39 patients had median follow-up 31months (range 6-284 months). 87% of aortas were moderately/severely atherosclerotic (n = 16 moderate, n = 18 severe), while 69% were ectatic/aneurysmal (n = 27). Dynamic Cohort of 20 patients had median follow-up of 70months (range 14-244months). All were atherosclerotic and 80% were ectatic/aneurysmal compared to 25% ectatic/aneurysmal at prior imaging. Mural thrombus was present at the site of the future LLF in 17 of 20, thrombosed PAU in 1, and no focal findings in 2. Short-segment LLFs within the abdominal aorta arise from prior mural thrombus and demonstrate long term stability. Clinically and radiographically indolent, LLFs should not be called dissection flaps.