bluuebunny/crossref_metadata_2025 huggingface dataset:
1014 The PANDA Monster Under the Bed
Authors: Oh Ann , Avidan Alon
Published: May 2023

Introduction

Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcus (PANDAS) is an acute-onset constellation of symptoms including obsessive-compulsive disorder and concurrent neuropsychiatric symptoms including anxiety, emotional lability, and behavioral regression. Sleep disturbances are common in PANDAS, suspected of post-infectious inflammation that can decrease serotonin, increase dopamine, and prevent the production of melatonin. OCD fears and rituals can create may impede sleep onset and impair sleep maintenance. Abnormal motor manifestations during sleep include restlessness, stereotypies, paroxysms or periodic limb movements during sleep. This case report highlights the clinical time course of sleep disorders found in chronic PANDAS, refractory to immunomodulatory interventions.

Report of case(s)

We present the case of an 11-year-old male who presented with behavioral insomnia of childhood sleep-onset association type in the setting of personality changes and deterioration of school performance coinciding with streptococcus infection two months earlier. The patient was supported with prophylaxis antistreptococcal therapy as well as Omega-3 fatty acids. Parents noted heightened anxiety during the day, fear of obsessive and intrusive thoughts about becoming sick, and social seclusion but refusal to sleep alone and be away from home. He was also diagnosed with a tic disorder, chronic migraine, and postural orthostatic tachycardia syndrome (POTS), which likely exacerbated insomnia. The patient was referred for Cognitive behavior therapy utilizing exposure/response prevention ERP modality and psychoeducation. However, it was not until clonidine was introduced that the patient demonstrated a significant clinical response. Clonidine was initiated at 50ug and increased to 100ug QHS. It likely promotes sedation by decreasing norepinephrine release via negative feedback by agonism of the α2-adrenergic receptors at the level of the locus coeruleus.

Conclusion

Sleep disorders in PANDAS syndrome remain elusive and challenging to manage due to the lack of well-developed pharmacologic guidelines to treat insomnia in children. Our case illustrates the importance of the integration of pharmacologic treatments to augment behavioral strategies and promote better patient outcomes. More studies are needed to investigate the pharmacologic management of sleep ­disorders in children in general, but appraise the safety and efficacy of specific medications such, as clonidine, in particular.

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1015 Chasing after Sleep in ROHHAD syndrome
Authors: Oh Ann , Galion Anjalee
Published: May 2023

Introduction

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, (ROHHAD) syndrome is a childhood disorder consisting of rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation. Sleep disordered breathing, obesity hypoventilation, and daytime hypersomnia are common sleep conditions found in this syndrome. The purpose of this case report is to review the polysomnography findings and propose a multidisciplinary approach in treating a patient with ROHHAD syndrome.

Report of case(s)

This is a case of a 5-year-old female with a clinical presentation consistent with ROHHAD who experienced daytime hypersomnia and worsening obesity hypoventilation due to the progressive nature of her disease. We report the use of several wake-promoting pharmacological agents, in conjunction with positive airway pressure (PAP) therapy to improve quality of life and reduce burden of disease.

Conclusion

Early detection and treatment of sleep disorders in patients with ROHHAD syndrome are essential to improve health outcomes. Given the complex, evolving clinical course of this disease, these patients are best served by coordinated, multi-specialty care.

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1017 Laughing in the Face of Laughter: Narcolepsy with severe cataplexy refractory to medication: A case report
Authors: Orakpo Nnamdi , Taweesedt Pahnwat , Safarpour Yasaman , Miglis Mitchell , Mignot Emmanuel
Published: May 2023

Introduction

Cataplexy, a transient muscle atonia, typically occurs in response to positive emotions such as laughter or mirth. Cataplexy occurs in association with hypocretin deficiency/narcolepsy type 1 (NT1) and involves descending REM sleep-motor inhibition pathways. 1. Here we present a case with late – onset NT1, refractory to medication.

Report of case(s)

A 65-year-old man with a normal BMI presented to the autonomic clinic for presumed syncope, facial and leg weakness, occurring up to 50 times daily, triggered by laughter and a stressful life event from 4 years prior. Tilt testing and brain magnetic resonance imaging, were unremarkable, while sleep–deprived electroencephalogram was concerning for cataplectic versus functional attacks. He underwent diagnostic polysomnography (PSG) that showed severe obstructive sleep apnea (OSA) and was treated with bilevel positive airway pressure (BPAP). A repeat PSG after his OSA was controlled on BPAP, followed by a multiple sleep latency test the next day, showed a mean sleep latency of 2.7, and sleep onset rapid eye movement in 3 of 5 naps; cerebrospinal fluid hypocretin was undetectable and DQB1*06:02 was positive. He denied sleep paralysis and sleepiness, and jovial by nature, he joked as a hobby, leading to cataplexy. Trials of sodium oxybate was ineffective causing vivid dreams and hallucinations. Venlafaxine was subsequently added, initially controlling his cataplexy, but lost efficacy, warranting a trial of duloxetine, also ineffective. He was then started on solriamfetol, which improved sleepiness. We attempted to enroll him in a clinical trial of Reboxetine, thereby discontinuing duloxetine; severe OSA disqualified him from the trial. Subsequently, status cataplecticus ensued, leading to abolished reflexes and multiple falls. Clomipramine 100mg and Modafinil 200mg was started, reportedly reducing the frequency of cataplexy to 12 episodes daily.

Conclusion

Our case is notable because of the challenges working through the differential of drop attacks, and his late onset of severe NT1. One suggestion is an associated functional component to the disease could be involved, and though the diagnosis is solid, an additional functional overlay, or his joking personality, render symptom control unusually difficult. This case illustrates complexities of some cases with late-onset NT1.

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1021 An 8-year-old child with ROHAAD syndrome and its comorbid association with narcolepsy, cardiomyopathy, and malignant catatonia
Authors: Pattipati Meghana , Kaplan Kevin , Mekala Hema
Published: May 2023

Introduction

Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare disease with an unknown etiology. It manifests with varying clinical signs making the diagnosis challenging. We present a case of ROHHAD syndrome with narcolepsy, heart failure with cardiomyopathy, and malignant catatonia.

Report of case(s)

An 8-year-old boy with speech and developmental delay presents to sleep clinic at 4 years of age, with snoring, witnessed apneas during sleep, daytime somnolence and obesity for evaluation of obstructive sleep apnea. At three years of age, he started to gain weight rapidly; with an increase in BMI from 26 to 30 over a period of few months. His weight gain was initially attributed to a high caloric diet and sedentary lifestyle. A baseline polysomnogram revealed mild obstructive sleep apnea without hypoxemia or hypoventilation (oRDI of 4.2, oxygen nadir 90%, CAI 1). Over time, he was admitted multiple times for hypernatremia, respiratory failure with hypoxemia and hypercapnia, psychosis, and fever of unknown origin. After a thorough evaluation, the diagnosis of ROHHAD was made based upon his history of rapid weight gain, hyperthermia, respiratory failure with hypercapnia, hypopituitarism, and hypothyroidism. During one of his admissions for altered mental status the patient manifested agitation, auditory and visual hallucinations, and excessive daytime sleepiness. Due to these behavioral changes, cerebral spinal fluid was obtained showing a hypocretin of < 50pg/ml. Based on the low hypocretin levels, daytime sleepiness, and hallucinations; a diagnosis of narcolepsy type 1 was made. He subsequently developed heart failure with severely dilated cardiomyopathy and depressed contractility. The patient was deemed not a candidate for heart transplant due to his underlying comorbidities. He unfortunately died at the age of 8 years due to complications from advanced heart failure.

Conclusion

ROHHAD is a rare and fatal disease that can manifest in several ways. ROHHAD with coexistent narcolepsy, malignant catatonia and cardiomyopathy is extremely rare presentation. Providers need to be aware of the varying clinical presentations and have a high index of suspicion in diagnosing this condition. Early diagnosis might improve the morbidity and mortality.

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1023 A Case of Stridor in the Sleep Clinic
Authors: Call Justin , Punj Mantavya , Colaco Clinton , Arunthari Vichaya , Colaco Brendon
Published: May 2023

Introduction

Multisystem atrophy (MSA) is a neurological degenerative progressive disease affecting multiple systems. These patients are frequently seen in the sleep clinic at specialty centers by sleep neurologists for co-management of sleep disordered breathing and nocturnal respiratory issues. Stridor is a life-threatening condition seen in these patients and requires emergent action. We present a case of MSA with worsening stridor that was missed in the era of virtual telemedicine.

Report of case(s)

A 53-year-old female with a history of obstructive sleep apnea (OSA) on BiPAP S and multiple system atrophy with parkinsonian subtype presented virtually to sleep clinic for follow up evaluation of her sleep disordered breathing. Six months prior to her visit she was noted to have bilateral vocal fold hypomobility without stridor. At that time, she had a residual apnea-hypopnea index (AHI) of 1.4 with BiPAP-S 16/13 cm H2O and no nocturnal stridor. She was wheelchair bound. She had routine follow up visits with various providers however these were telemedicine visits with her husband doing most of the talking due to weakness. Over the next 5 months she had worsening fatigue and was using BiPAP S during the day intermittently and was referred to the sleep medicine clinic for consideration of supplemental oxygen at night. A repeat overnight oximetry revealed residual oxygen desaturation index (ODI) of 2.5/hr while on BiPAP S. Repeat pulmonary function testing was ordered and patient was recommended to return for immediate in person follow up. When seen in person, patient was noted to have significant stridor which had been ongoing and worsening over last few months including being appreciated while on PAP therapy. Emergent same-day ENT consultation was arranged by sleep providers. Posterior cordectomy was performed shortly thereafter. The patient was scheduled for an AVAPS titration study.

Conclusion

In cases with progressive neuromuscular disease, stridor may be missed during virtual appointments for a variety of reasons including technical difficulties, or the virtual medium not being sensitive enough to convey stridor. This case highlights the importance of having a high index of suspicion for stridor and impending respiratory failure requiring emergent intervention in patients with neuromuscular disease.

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1031 OSA management with RME device in pediatric patient with GBS on IVIg and non surgical candidate due to immunomodulated status
Authors: Ghildiyal Naomi , Pant Alok , Rosales William , Chernyshev Oleg , Fahmy Omar
Published: May 2023

Introduction

Adenotonsillectomy is considered the standard of care in pediatric populations diagnosed with OSA and adenotonsillar hypertrophy. For non-surgical and specific populations, Rapid maxillary expansion, a technique that consists in increasing the transverse diameter of the hard palate with the use of a fixed orthodontic appliance, has recently been used, with evidence of improvement of signs and symptoms of the disease, AHI normalization, and overall PSG parameters improvement.

Report of case(s)

Patient with a history of Chronic inflammatory demyelinating polyradiculoneuropathy and Guillain Barre syndrome, diagnosed at 8 years of age, posterior to gastrointestinal viral infection. MRI of the lumbosacral spine showed inflammatory changes at the cauda equina, conus and epiconus consistent with GBS. She also has CIDP, first diagnosed by Electromyography. The same year she had witnessed snoring and apneic episodes and underwent a PSG which showed an AHI of 2/hr. On Physical exam, she had tonsils 2+ and was referred to an ENT specialist for tonsillectomy. A repeat PSG at the age of 9 years revealed an AHI of 1.6/hour with no central apnea/hypopnea. At that time, due to clinical worsening of her neurologic symptoms, with ataxia and lower extremity weakness, she was started on a course of IVIg therapy. Due to IVIg treatment, she was not a candidate for tonsillectomy. In view of excessive daytime sleepiness, concentration difficulties at school and not being a candidate for tonsillectomy, she was referred for Rapid Maxillary Expansion. She has had maxillary expanders since the age of 9 and is now asymptomatic and her snoring has remarkably improved. She is now in the process of being fitted with braces and her lower extremity weakness has also improved with IVIg. Complete resolution of sleep apnea symptoms after rapid maxillary expansion without tonsillectomy.

Conclusion

Although tonsillectomy has been the gold standard for the treatment of OSA in the pediatric population, patients who are not surgical candidates for tonsillectomy can undergo orthodontic treatment and benefit from the outcomes. As reported in our unique case, the patient became completely symptom-free.

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1035 Joubert Syndrome and severe central sleep apnea treated with noninvasive ventilation: A case report
Authors: Singh Monica , Sharma Gorav , Lam Nhi , Veeravigrom Montida
Published: May 2023

Introduction

Joubert syndrome is an autosomal recessive heterogenous ciliopathy characterized by cerebellar vermis hypoplasia resulting in ataxia, hypotonia, developmental delay, neonatal respiratory dysregulation, and abnormal eye movements. It is typically accompanied by the pathognomonic “molar tooth sign” on brain MRI. Primary central sleep apnea has been described in case reports about this condition, however given the rarity of this disease, there are very few studies conducted on these patients. Our goal is to share our treatment approaches for the sleep disturbances seen in these patients.

Report of case(s)

A 6-year-old female from Kuwait with a history of Joubert syndrome and global development delay presented at UCMC for evaluation of sleep issues. During the history taking, patient’s mother reported that the patient was born with acute respiratory failure shortly and required CPAP therapy in the NICU. She later developed tachypnea and cyanosis during feedings, which prompted further evaluation. A subsequent brain MRI demonstrated a molar tooth sign consistent with Joubert Syndrome. Patient required supplemental oxygenation due to nocturnal desaturations found on pulse oximetry. Due to persistent apneas and chokings during sleep, the patient underwent a repeat diagnostic polysomnogram with an electroencephalogram at our institution demonstrating severe central sleep apnea most predominant during NREM sleep. An extended montage of the EEG did not show any epileptiform discharge. This was followed by a mask de-sensitization and an inpatient PAP titration study during which BPAP therapy ST mode with a backup rate of 8 breath/minute successfully treated the patient’s primary central sleep apnea. Patient also underwent a multidisciplinary consultation with PM&R, speech therapy and ophthalmology due to her ataxia, speech delay, and need to assess for retinal dystrophy, respectively.

Conclusion

Sleep disordered breathing in the neonatal period is an early presentation in Joubert syndrome with central sleep apnea being the primary sleep disordered breathing. Fortunately, the clinical course of sleep disordered breathing does improve with treatment overtime, as in our case. Treatment options include conservative treatment, oxygen supplementation or PAP therapy. In our case, BPAP with ST mode was the most effective modality despite the need for mask desensitization and initial hesitation with using a PAP device.

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1036 Traumatic Complications of Unrecognized Somnambulance in a Pediatric Patient
Authors: Smith Charles , Kaplan Kevin
Published: May 2023

Introduction

Parasomnias are unusual, disruptive, and abnormal verbal or motor events that occur during sleep or between wake and sleep transitions. They can occur in non-rapid eye movement (NREM) or rapid eye movement (REM) sleep stages. NREM parasomnias are typically more prevalent in pediatric populations. One such NREM parasomnia is sleep walking or somnambulance. One study estimates somnambulance has a prevalence of 17% in ages 3-13 years¹. Somnambulance typically occurs during stage 3 sleep which is clustered in the first half of sleep when REM is less prevalent

Report of case(s)

A 4-year-old previously healthy male presented to clinic for a somnambulance consult. Around 6 months prior, his parents awoke around 3 AM to check on their crying infant, a sibling of our patient, and noticed the patient was missing. They noticed the back door open. Two blocks away they saw police lights and found he had been hit by a vehicle. He was admitted to the hospital for polytrauma, including bilateral pulmonary contusions with acute respiratory failure, grade 4 liver and kidney lacerations, grade 3 adrenal injury, and right parietal lobe parenchymal and subarachnoid hemorrhages. He was later discharged in stable condition with persistent but improved spasticity, impaired mobility, and cognition. His parents had not noticed any prior episodes of somnambulance. However, they did report other frequent parasomnias: somniloquy and confusional arousals. These episodes were worse following late evenings. There was a strong family history of somnambulance in the parent’s siblings. They denied any sleep disordered breathing symptoms. Parents were reassured and educated about parasomnia's self-limited nature but to keep a safe environment and avoid sleep deprivation.

Conclusion

The majority of parasomnia in children have benign outcomes and eventual self-resolution with age. However, rare circumstances arise where these events can be hazardous including sleep-cooking, risking fire and burns or, as in this case, unknowingly walking into traffic. A sleep study is not always needed as parasomnias are a clinical diagnosis. However, it’s important to note that if a patient has a history of parasomnias parents should be educated on the importance of keeping a safe environment to prevent possible harm.

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1041 Recurrent Retropharyngeal Ganglioneuroma in a Pediatric Patient
Authors: Thanawala Mitali , Revana Amee
Published: May 2023

Introduction

Ganglioneuroma is a rare benign subtype of peripheral neuroblastic tumor that arises from sympathetic ganglion cells. Fewer than 10% of these cases occur in the head and neck and are rarely seen in pediatric patients. Clinical symptoms and treatment are dependent on mass location and extension. The authors present a case of recurrent retropharyngeal ganglioneuroma in a pediatric patient.

Report of case(s)

Patient is a 2-year-old previously healthy female who presented with progressive snoring and found to have retropharyngeal lymphadenopathy during tonsillectomy. Differential diagnosis included retropharyngeal abscess; however, after no improvement with antibiotics, malignancy was suspected. Pathology results from a needle biopsy confirmed the diagnosis of ganglioneuroma. CT imaging showed extension of mass to bilateral retropharyngeal, posterior mediastinal and paraspinal, and retroperitoneal spaces. Given concerns for significant morbidity with complete resection, patient underwent partial resection of mass, followed by chemotherapy to decrease tumor burden. Patient initially did well, then developed nine-month progressive snoring, positional apnea, persistent stertor, and dysphagia. Sleep study showed severe obstructive sleep apnea (OSA) with apnea hypopnea index (AHI) 74, oxygen nadir 66%, and maximum transcutaneous carbon dioxide (CO2) level of 58 mmHg. Repeat CT imaging showed regrowth of the tumor with large right-sided retropharyngeal mass, mass effect on right oropharynx and associated vasculature, and moderate narrowing of airway. Supplemental oxygen via nasal cannula was initiated as inpatient, due to concerns that noninvasive positive pressure support would further compromise the critical airway. Urgent repeat debulking of the tumor with partial pharyngectomy was completed. Post-operatively, patient's oxygen dependence, stertor, and positional apnea resolved within 24 hours. Repeat sleep study showed considerable improvement with mild OSA, AHI 1.4, oxygen nadir 89%, and maximum transcutaneous CO2 level of 47 mmHg. Her dysphagia and residual mild intermittent snoring are improving with no signs of recurrence of the mass.

Conclusion

Upper airway obstruction secondary to neck mass in pediatric patients is rare and even less commonly found to be recurrent ganglioneuroma. This case offers further understanding of the complexities of diagnosing and treating insidiously growing retropharyngeal tumors and the prompt management of critically obstructed airways.

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1042 Cognitive Behavioral Therapy for Insomnia (CBT-I) in Patient with Neurological Symptoms of Unclear Etiology
Authors: Tiani Alaina , Roth Alicia , Drerup Michelle , Kane Alexa
Published: May 2023

Introduction

For those experiencing neurological symptoms and being evaluated for multiple sclerosis (MS), it is important to assess whether sleep disturbance is primary or secondary to neurological disease. In this case, CBT-I was initiated to rule out a sleep disorder as an underlying cause of neurological symptoms.

Report of case(s)

The patient is a 61-year-old, White, female with chronic insomnia, excessive daytime sleepiness, and mild OSA comorbid with abnormal brain MRI (significant non-specific lesions). Patient is followed by neuroimmunology for management of neurological symptoms with unclear etiology (fatigue, paresthesia, neuropathic pain, and impaired cognition). She was referred to sleep medicine by her neurologist who suspected severe fatigue and sleepiness may be contributing to complex medical presentation. Patient endorsed a history of sleep-maintenance insomnia associated with drowsy driving (1 MVA and 3 near-misses). Of note, patient discontinued CPAP use for mild OSA in spring 2022 due to device recall. Her sleep physician recommended CBT-I to increase TST prior to OSA re-evaluation. Patient presented as anxious and distressed regarding safety while driving. She initiated CBT-I and engaged in stimulus control, cognitive restructuring, sleep diaries, relaxation, motivational interviewing, and supportive therapy. Baseline sleep diaries showed average WASO=146 minutes, SE=58%, and TST=4.1 hours. At week 7, average WASO=60 minutes, SE=86%, and TST=6.0 hours. Though no baseline measure was obtained, sleep disturbance (PROMIS Sleep T Score) was WNL (T=54) at week 7. Depression, anxiety, and pain-related disability decreased: PHQ-9 (11-moderate to 8-mild), GAD-7 (6-moderate to 4-mild), PDI (41 to 33). Measures of daytime sleepiness remained in the severe range (ESS 20 to 18), suggesting the need for OSA re-evaluation. Although sleep quality improved, patient reported new and worsening neurological symptoms including dysphagia and falls at home. CBT-I treatment is ongoing.

Conclusion

As individuals diagnosed with MS and other neurological disorders are more likely to experience insomnia than the general population, assessment of sleep disorders and evidenced-based treatments should be part of comprehensive neurological evaluation. In this case, the patient’s sleep parameters improved with CBT-I, but neurological symptoms persisted and worsened, suggesting the need for continued assessment and follow-up with neurology and sleep physicians.

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None.
Prospective Evaluation of a Dynamic Acuity Score for Regularly Assessing a Critically Ill Patient’s Risk of Mortality
Authors: Kramer Andrew A. , Krinsley James F. , Lissauer Matthew
Published: May 2023

OBJECTIVE:

Predictive models developed for use in ICUs have been based on retrospectively collected data, which does not take into account the challenges associated with live, clinical data. This study sought to determine if a previously constructed predictive model of ICU mortality (ViSIG) is robust when using data collected prospectively in near real-time.

DESIGN:

Prospectively collected data were aggregated and transformed to evaluate a previously developed rolling predictor of ICU mortality.

SETTING:

Five adult ICUs at Robert Wood Johnson-Barnabas University Hospital and one adult ICU at Stamford Hospital.

PATIENTS:

One thousand eight hundred and ten admissions from August to December 2020.

MEASUREMENTS AND MAIN RESULTS:

The ViSIG Score, comprised of severity weights for heart rate, respiratory rate, oxygen saturation, mean arterial pressure, mechanical ventilation, and values for OBS Medical’s Visensia Index. This information was collected prospectively, whereas data on discharge disposition was collected retrospectively to measure the ViSIG Score’s accuracy. The distribution of patients’ maximum ViSIG Score was compared with ICU mortality rate, and cut points determined where changes in mortality probability were greatest. The ViSIG Score was validated on new admissions. The ViSIG Score was able to stratify patients into three groups: 0–37 (low risk), 38–58 (moderate risk), and 59–100 (high risk), with mortality of 1.7%, 12.0%, and 39.8%, respectively (p < 0.001). The sensitivity and specificity of the model to predict mortality for the high-risk group were 51% and 91%. Performance on the validation dataset remained high. There were similar increases across risk groups for length of stay, estimated costs, and readmission.

CONCLUSIONS:

Using prospectively collected data, the ViSIG Score produced risk groups for mortality with good sensitivity and excellent specificity. A future study will evaluate making the ViSIG Score visible to clinicians to determine whether this metric can influence clinician behavior to reduce adverse outcomes.
Prediction values of tertiary lymphoid structures in the prognosis of patients with left- and right-sided colon cancer: a multicenter propensity score-matched study
Authors: Mao Yonghuan , Wang Xingzhou , Xi Ling , Dong Meng , Song Peng , Miao Ji , Lu Cheng , Sun Sizheng , Li Qiang , Yu Chunzhao , Shen Xiaofei
Published: May 2023

Background:

Tertiary lymphoid structures (TLS) are the lymphocyte aggregates that play a key role in the vast majority of solid tumors including colon cancer, displaying an anti-tumor effect under most circumstances. The heterogeneity between left- and right-sided colon cancer (LCC and RCC) encompasses various aspects, such as clinical manifestations, pathological features, and immune responses. However, the function and prognostic significance of TLS within LCC and RCC have yet to be fully understood.

Methods:

A retrospective analysis was performed on 2612 patients who underwent radical resection for LCC or RCC without distant metastasis in multiple medical centers. Utilizing propensity score matching, 121 patients with LCC and 121 patients with RCC were selected for the training set. An external validation set including 64 patients with LCC and 64 patients with RCC were also employed. Hematoxylin-eosin (H&E) and immunohistochemical (IHC) staining were used to assess TLS and the proportion of various immune cells. Clinical characteristics and prognostic values of TLS in patients with LCC and RCC were analyzed. Nomograms were constructed for LCC and RCC to predict 3-year and 5-year overall survival (OS), respectively.

Results:

For LCC and RCC patients, TLS was located in the interstitial region or outside the tumor tissue and mainly consisted of B cells and T cells. The TLS quantity and density in RCC were higher than those of LCC. In multivariate Cox regression analysis, TLS density (P=0.014), vascular invasion (P=0.019) and AJCC stage (P=0.026) were independent prognostic factors for 5-year OS of RCC. For LCC patients, AJCC stage (P=0.024), tumor differentiation (P=0.001), and tumor budding (P=0.040) emerged as independent prognostic factors for 5-year OS. Similar results were obtained in the external verification set. Separate nomograms for RCC and LCC were developed, displaying improved prediction performance compared to AJCC 8th edition TNM staging system.

Conclusions:

Differences in TLS quantity and density were observed between LCC and RCC, suggesting that a nomogram based on TLS density could more effectively predict survival for RCC patients. Furthermore, a nomogram based on tumor budding was recommended for better prediction of LCC patient survival. Taken together, these results suggested that the immune and clinical characteristics of colon cancer at left and right side were substantially different, which may lead to the use of different prediction model and the development of individual treatment strategy.
A framework for the detection and attribution of biodiversity change
Authors: Gonzalez Andrew , Chase Jonathan M. , O'Connor Mary I.
Published: May 2023

The causes of biodiversity change are of great scientific interest and central to policy efforts aimed at meeting biodiversity targets. Changes in species diversity and high rates of compositional turnover have been reported worldwide. In many cases, trends in biodiversity are detected, but these trends are rarely causally attributed to possible drivers. A formal framework and guidelines for the detection and attribution of biodiversity change is needed. We propose an inferential framework to guide detection and attribution analyses, which identifies five steps—causal modelling, observation, estimation, detection and attribution—for robust attribution. This workflow provides evidence of biodiversity change in relation to hypothesized impacts of multiple potential drivers and can eliminate putative drivers from contention. The framework encourages a formal and reproducible statement of confidence about the role of drivers after robust methods for trend detection and attribution have been deployed. Confidence in trend attribution requires that data and analyses used in all steps of the framework follow best practices reducing uncertainty at each step. We illustrate these steps with examples. This framework could strengthen the bridge between biodiversity science and policy and support effective actions to halt biodiversity loss and the impacts this has on ecosystems.

This article is part of the theme issue ‘Detecting and attributing the causes of biodiversity change: needs, gaps and solutions’.
Theory and application of an improved species richness estimator
Authors: Tekwa Eden W. , Whalen Matthew A. , Martone Patrick T. , O'Connor Mary I.
Published: May 2023

Species richness is an essential biodiversity variable indicative of ecosystem states and rates of invasion, speciation and extinction both contemporarily and in fossil records. However, limited sampling effort and spatial aggregation of organisms mean that biodiversity surveys rarely observe every species in the survey area. Here we present a non-parametric, asymptotic and bias-minimized richness estimator,Ωby modelling how spatial abundance characteristics affect observation of species richness. Improved asymptotic estimators are critical when both absolute richness and difference detection are important. We conduct simulation tests and appliedΩto a tree census and a seaweed survey.Ωconsistently outperforms other estimators in balancing bias, precision and difference detection accuracy. However, small difference detection is poor with any asymptotic estimator. An R-package,Richness, performs the proposed richness estimations along with other asymptotic estimators and bootstrapped precisions. Our results explain how natural and observer-induced variations affect species observation, how these factors can be used to correct observed richness using the estimatorΩon a variety of data, and why further improvements are critical for biodiversity assessments.

This article is part of the theme issue ‘Detecting and attributing the causes of biodiversity change: needs, gaps and solutions’.
Detecting parallel polygenic adaptation to novel evolutionary pressure in wild populations: a case study in Atlantic cod (
Gadus morhua
)
Authors: Reid Brendan N. , Star Bastiaan , Pinsky Malin L.
Published: May 2023

Populations can adapt to novel selection pressures through dramatic frequency changes in a few genes of large effect or subtle shifts in many genes of small effect. The latter (polygenic adaptation) is expected to be the primary mode of evolution for many life-history traits but tends to be more difficult to detect than changes in genes of large effect. Atlantic cod (
Gadus morhua
) were subjected to intense fishing pressure over the twentieth century, leading to abundance crashes and a phenotypic shift toward earlier maturation across many populations. Here, we use spatially replicated temporal genomic data to test for a shared polygenic adaptive response to fishing using methods previously applied to evolve-and-resequence experiments. Cod populations on either side of the Atlantic show covariance in allele frequency change across the genome that are characteristic of recent polygenic adaptation. Using simulations, we demonstrate that the degree of covariance in allele frequency change observed in cod is unlikely to be explained by neutral processes or background selection. As human pressures on wild populations continue to increase, understanding and attributing modes of adaptation using methods similar to those demonstrated here will be important in identifying the capacity for adaptive responses and evolutionary rescue.

This article is part of the theme issue ‘Detecting and attributing the causes of biodiversity change: needs, gaps and solutions’.
Perspective: sustainability challenges, opportunities and solutions for long-term ecosystem observations
Authors: Mori Akira S. , Suzuki Kureha F. , Hori Masakazu , Kadoya Taku , Okano Kotaro , Uraguchi Aya , Muraoka Hiroyuki , Sato Tamotsu , Shibata Hideaki , Suzuki-Ohno Yukari , Koba Keisuke , Toda Mariko , Nakano Shin-ichi , Kondoh Michio , Kitajima Kaoru , Nakamura Masahiro
Published: May 2023

As interest in natural capital grows and society increasingly recognizes the value of biodiversity, we must discuss how ecosystem observations to detect changes in biodiversity can be sustained through collaboration across regions and sectors. However, there are many barriers to establishing and sustaining large-scale, fine-resolution ecosystem observations. First, comprehensive monitoring data on both biodiversity and possible anthropogenic factors are lacking. Second, somein situecosystem observations cannot be systematically established and maintained across locations. Third, equitable solutions across sectors and countries are needed to build a global network. Here, by examining individual cases and emerging frameworks, mainly from (but not limited to) Japan, we illustrate how ecological science relies on long-term data and how neglecting basic monitoring of our home planet further reduces our chances of overcoming the environmental crisis. We also discuss emerging techniques and opportunities, such as environmental DNA and citizen science as well as using the existing and forgotten sites of monitoring, that can help overcome some of the difficulties in establishing and sustaining ecosystem observations at a large scale with fine resolution. Overall, this paper presents a call to action for joint monitoring of biodiversity and anthropogenic factors, the systematic establishment and maintenance ofin situobservations, and equitable solutions across sectors and countries to build a global network, beyond cultures, languages, and economic status. We hope that our proposed framework and the examples from Japan can serve as a starting point for further discussions and collaborations among stakeholders across multiple sectors of society. It is time to take the next step in detecting changes in socio-ecological systems, and if monitoring and observation can be made more equitable and feasible, they will play an even more important role in ensuring global sustainability for future generations.

This article is part of the theme issue ‘Detecting and attributing the causes of biodiversity change: needs, gaps and solutions’.
Demography–environment relationships improve mechanistic understanding of range dynamics under climate change
Authors: Malchow A.-K. , Hartig F. , Reeg J. , Kéry M. , Zurell D.
Published: May 2023

Species respond to climate change with range and abundance dynamics. To better explain and predict them, we need a mechanistic understanding of how the underlying demographic processes are shaped by climatic conditions. Here, we aim to infer demography–climate relationships from distribution and abundance data. For this, we developed spatially explicit, process-based models for eight Swiss breeding bird populations. These jointly consider dispersal, population dynamics and the climate-dependence of three demographic processes—juvenile survival, adult survival and fecundity. The models were calibrated to 267 nationwide abundance time series in a Bayesian framework. The fitted models showed moderate to excellent goodness-of-fit and discriminatory power. The most influential climatic predictors for population performance were the mean breeding-season temperature and the total winter precipitation. Contemporary climate change benefitted the population trends of typical mountain birds leading to lower population losses or even slight increases, whereas lowland birds were adversely affected. Our results emphasize that generic process-based models embedded in a robust statistical framework can improve our predictions of range dynamics and may allow disentangling of the underlying processes. For future research, we advocate a stronger integration of experimental and empirical studies in order to gain more precise insights into the mechanisms by which climate affects populations.

This article is part of the theme issue ‘Detecting and attributing the causes of biodiversity change: needs, gaps and solutions’.
Bridging adaptive management and reinforcement learning for more robust decisions
Authors: Chapman Melissa , Xu Lily , Lapeyrolerie Marcus , Boettiger Carl
Published: May 2023

From out-competing grandmasters in chess to informing high-stakes healthcare decisions, emerging methods from artificial intelligence are increasingly capable of making complex and strategic decisions in diverse, high-dimensional and uncertain situations. But can these methods help us devise robust strategies for managing environmental systems under great uncertainty? Here we explore how reinforcement learning (RL), a subfield of artificial intelligence, approaches decision problems through a lens similar to adaptive environmental management: learning through experience to gradually improve decisions with updated knowledge. We review where RL holds promise for improving evidence-informed adaptive management decisions even when classical optimization methods are intractable and discuss technical and social issues that arise when applying RL to adaptive management problems in the environmental domain. Our synthesis suggests that environmental management and computer science can learn from one another about the practices, promises and perils of experience-based decision-making.

This article is part of the theme issue ‘Detecting and attributing the causes of biodiversity change: needs, gaps and solutions’.
Economic factors underlying biodiversity loss
Authors: Dasgupta Partha , Levin Simon
Published: May 2023

Contemporary economic thinking does not acknowledge that the human economy is embedded in Nature; it instead treats humanity as a customer that draws on Nature. In this paper, we present a grammar for economic reasoning that is not built on that error. The grammar is based on a comparison between our demand for Nature's maintenance and regulating services and her ability to supply them on a sustainable basis. The comparison is then used to show that for measuring economic well-being, national statistical offices should estimate an inclusive measure of their economies' wealth and its distribution, not GDP and its distribution. The concept of ‘inclusive wealth’ is then used to identify policy instruments that ought to be used to manage such global public goods as the open seas and tropical rainforests. Trade liberalization without heed paid to the fate of local ecosystems from which primary products are drawn and exported by developing countries leads to a transfer of inclusive wealth from there to rich importing countries. Humanity's embeddedness in Nature has far-reaching implications for the way we should view human activities—in households, communities, nations and the world.

This article is part of the theme issue ‘Detecting and attributing the causes of biodiversity change: needs, gaps and solutions’.
Looking back on biodiversity change: lessons for the road ahead
Authors: Dornelas Maria , Chase Jonathan M. , Gotelli Nicholas J , Magurran Anne E , McGill Brian J , Antão Laura H. , Blowes Shane A. , Daskalova Gergana N. , Leung Brian , Martins Inês S. , Moyes Faye , Myers-Smith Isla H. , Thomas Chris D , Vellend Mark
Published: May 2023

Estimating biodiversity change across the planet in the context of widespread human modification is a critical challenge. Here, we review how biodiversity has changed in recent decades across scales and taxonomic groups, focusing on four diversity metrics: species richness, temporal turnover, spatial beta-diversity and abundance. At local scales, change across all metrics includes many examples of both increases and declines and tends to be centred around zero, but with higher prevalence of declining trends in beta-diversity (increasing similarity in composition across space or biotic homogenization) and abundance. The exception to this pattern is temporal turnover, with changes in species composition through time observed in most local assemblages. Less is known about change at regional scales, although several studies suggest that increases in richness are more prevalent than declines. Change at the global scale is the hardest to estimate accurately, but most studies suggest extinction rates are probably outpacing speciation rates, although both are elevated. Recognizing this variability is essential to accurately portray how biodiversity change is unfolding, and highlights how much remains unknown about the magnitude and direction of multiple biodiversity metrics at different scales. Reducing these blind spots is essential to allow appropriate management actions to be deployed.

This article is part of the theme issue ‘Detecting and attributing the causes of biodiversity change: needs, gaps and solutions’.
Camera trapping expands the view into global biodiversity and its change
Authors: Oliver Ruth Y. , Iannarilli Fabiola , Ahumada Jorge , Fegraus Eric , Flores Nicole , Kays Roland , Birch Tanya , Ranipeta Ajay , Rogan Matthew S. , Sica Yanina V. , Jetz Walter
Published: May 2023

Growing threats to biodiversity demand timely, detailed information on species occurrence, diversity and abundance at large scales. Camera traps (CTs), combined with computer vision models, provide an efficient method to survey species of certain taxa with high spatio-temporal resolution. We test the potential of CTs to close biodiversity knowledge gaps by comparing CT records of terrestrial mammals and birds from the recently released Wildlife Insights platform to publicly available occurrences from many observation types in the Global Biodiversity Information Facility. In locations with CTs, we found they sampled a greater number of days (mean = 133 versus 57 days) and documented additional species (mean increase of 1% of expected mammals). For species with CT data, we found CTs provided novel documentation of their ranges (93% of mammals and 48% of birds). Countries with the largest boost in data coverage were in the historically underrepresented southern hemisphere. Although embargoes increase data providers' willingness to share data, they cause a lag in data availability. Our work shows that the continued collection and mobilization of CT data, especially when combined with data sharing that supports attribution and privacy, has the potential to offer a critical lens into biodiversity.

This article is part of the theme issue ‘Detecting and attributing the causes of biodiversity change: needs, gaps and solutions’.
Monitoring biodiversity loss in rapidly changing Afrotropical ecosystems: an emerging imperative for governance and research
Authors: Achieng A. O. , Arhonditsis G. B. , Mandrak N. , Febria C. , Opaa B. , Coffey T. J. , Masese F. O. , Irvine K. , Ajode Z. M. , Obiero K. , Barasa J. E. , Kaunda-Arara B.
Published: May 2023

Africa is experiencing extensive biodiversity loss due to rapid changes in the environment, where natural resources constitute the main instrument for socioeconomic development and a mainstay source of livelihoods for an increasing population. Lack of data and information deficiency on biodiversity, but also budget constraints and insufficient financial and technical capacity, impede sound policy design and effective implementation of conservation and management measures. The problem is further exacerbated by the lack of harmonized indicators and databases to assess conservation needs and monitor biodiversity losses. We review challenges with biodiversity data (availability, quality, usability and database access) as a key limiting factor that impacts funding and governance. We also evaluate the drivers of both ecosystems change and biodiversity loss as a central piece of knowledge to develop and implement effective policies. While the continent focuses more on the latter, we argue that the two are complementary in shaping restoration and management solutions. We thus underscore the importance of establishing monitoring programmes focusing on biodiversity–ecosystem linkages in order to inform evidence-based decisions in ecosystem conservation and restoration in Africa.

This article is part of the theme issue ‘Detecting and attributing the causes of biodiversity change: needs, gaps and solutions’.