cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.31375486
title: Supplementary Material for: Leber Hereditary Optic Neuropathy in the Elderly: A Case Report

description: Background:
Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder typically affecting young males, with rare reports of late-onset disease. Among the three primary LHON mutations, m.14484T&gt;C is generally associated with a relatively favourable visual prognosis. However, the disease in elderly patients carrying this mutation remains poorly characterized. This case represents the oldest reported patient to date with LHON due to the m.14484T&gt;C mutation.

Case Presentation:
An 89-year-old man presented with a 4-month history of painless, bilateral vision loss. The patient had a 30-pack-year smoking history and daily alcohol intake but no family history of vision loss. His best-corrected visual acuity was counting fingers at 1 foot in both eyes, with color vision loss and bilateral elevated hyperemic optic disc. OCT demonstrated relatively preserved GCIPL thickness and pRNFL elevation, and visual fields showed diffuse loss. MRI of the brain and orbits was unremarkable. Laboratory evaluation, including serum B12, was normal. Genetic testing revealed the m.14484T&gt;C mutation in mitochondrial DNA, confirming the diagnosis of LHON. At 3-month follow-up, fundus exam showed mild disc pallor bilaterally, reduced pRNFL elevation, diffuse GCIPL thinning, and stable vision and visual field. 

Conclusion:
This case represents the oldest reported patient to date with LHON due to the m.14484T&gt;C mutation. Despite the mutation’s typical association with better visual outcomes, the patient experienced progressive vision loss with no recovery. This case underscores the importance of considering LHON in elderly patients with bilateral optic neuropathy and highlights the potential impact of age and environmental exposures on disease expression and prognosis.
DOI: 10.6084/m9.figshare.31375486.v1
title: Supplementary Material for: Leber Hereditary Optic Neuropathy in the Elderly: A Case Report

description: Background:
Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder typically affecting young males, with rare reports of late-onset disease. Among the three primary LHON mutations, m.14484T&gt;C is generally associated with a relatively favourable visual prognosis. However, the disease in elderly patients carrying this mutation remains poorly characterized. This case represents the oldest reported patient to date with LHON due to the m.14484T&gt;C mutation.

Case Presentation:
An 89-year-old man presented with a 4-month history of painless, bilateral vision loss. The patient had a 30-pack-year smoking history and daily alcohol intake but no family history of vision loss. His best-corrected visual acuity was counting fingers at 1 foot in both eyes, with color vision loss and bilateral elevated hyperemic optic disc. OCT demonstrated relatively preserved GCIPL thickness and pRNFL elevation, and visual fields showed diffuse loss. MRI of the brain and orbits was unremarkable. Laboratory evaluation, including serum B12, was normal. Genetic testing revealed the m.14484T&gt;C mutation in mitochondrial DNA, confirming the diagnosis of LHON. At 3-month follow-up, fundus exam showed mild disc pallor bilaterally, reduced pRNFL elevation, diffuse GCIPL thinning, and stable vision and visual field. 

Conclusion:
This case represents the oldest reported patient to date with LHON due to the m.14484T&gt;C mutation. Despite the mutation’s typical association with better visual outcomes, the patient experienced progressive vision loss with no recovery. This case underscores the importance of considering LHON in elderly patients with bilateral optic neuropathy and highlights the potential impact of age and environmental exposures on disease expression and prognosis.
DOI: 10.25549/uschist-c104-228331
title: Southern California alumni review, vol. 21, no. 8 (1940 Apr.)

description: Southern California alumni review, vol. 21, no. 8 (1940 April). Published twenty times a year, weekly from September to December 15, and monthly from January to June.
DOI: 10.25549/uschist-c104-227424
title: Southern California alumni review, vol. 17, no. 6 (1936 Feb.)

description: Southern California alumni review, vol. 17, no. 6 (1936 February). Published twenty times a year.
DOI: 10.6084/m9.figshare.31375489
title: Supplementary Material for: Inflammatory bowel disease burden in Six Different Dietary Regions and Worldwide

description: Introduction: In recent years, diet has gained increasing attention as a modifiable risk factor of Inflammatory bowel disease (IBD). This study aimed to assess the potential impacts of global dietary changes on IBD prevalence. 
Methods: Data on IBD from 1999 to 2021 were obtained from the Global Burden of Disease study for global and region-specific dietary patterns. To quantify temporal patterns and assess trends in age-standardized rates of IBD prevalence, incidence, mortality, and years lived with disability, we computed disability-adjusted life years (DALYs) and years of life lost over the study period. Joinpoint software was used to analyze the average annual percent change and corresponding 95% confidence intervals. R statistical package (version 4.3.2) was used for statistical analyses and plot illustrations.
Results: The incidence of IBD globally and in six different dietary regions has increased annually from 1999 to 2021. Among these regions, the Mediterranean and African regions had the lowest incidence, whereas regions with a Western diet exhibited a higher incidence. The most common age of onset is between 50 and 69 years, while the highest mortality rate was observed in individuals aged 70 and above. A minimal difference in incidence was observed between males and females; however, the mortality rate, prevalence, and DALYs were higher in males than in females both globally and across the six dietary regions.
Conclusion: We elucidated how various dietary habits contribute to the onset and progression of IBD and highlight future research directions in this evolving field.
DOI: 10.6084/m9.figshare.31375489.v1
title: Supplementary Material for: Inflammatory bowel disease burden in Six Different Dietary Regions and Worldwide

description: Introduction: In recent years, diet has gained increasing attention as a modifiable risk factor of Inflammatory bowel disease (IBD). This study aimed to assess the potential impacts of global dietary changes on IBD prevalence. 
Methods: Data on IBD from 1999 to 2021 were obtained from the Global Burden of Disease study for global and region-specific dietary patterns. To quantify temporal patterns and assess trends in age-standardized rates of IBD prevalence, incidence, mortality, and years lived with disability, we computed disability-adjusted life years (DALYs) and years of life lost over the study period. Joinpoint software was used to analyze the average annual percent change and corresponding 95% confidence intervals. R statistical package (version 4.3.2) was used for statistical analyses and plot illustrations.
Results: The incidence of IBD globally and in six different dietary regions has increased annually from 1999 to 2021. Among these regions, the Mediterranean and African regions had the lowest incidence, whereas regions with a Western diet exhibited a higher incidence. The most common age of onset is between 50 and 69 years, while the highest mortality rate was observed in individuals aged 70 and above. A minimal difference in incidence was observed between males and females; however, the mortality rate, prevalence, and DALYs were higher in males than in females both globally and across the six dietary regions.
Conclusion: We elucidated how various dietary habits contribute to the onset and progression of IBD and highlight future research directions in this evolving field.
DOI: 10.6084/m9.figshare.31375492
title: Supplementary Material for: Magnetoencephalographic signatures of facial emotion processing in schizophrenia and major depressive disorder: a systematic review

description: Introduction: Social withdrawal is a frequent marker of functional decline in schizophrenia, Alzheimer’s disease (AD), and major depressive disorder (MDD), and is associated with deficits in facial-emotion recognition (FER). Magnetoencephalography (MEG) captures neuronal activity at millisecond resolution, enabling the assessment of fast oscillatory dynamics and functional connectivity during FER. This systematic review compares MEG responses during implicit and explicit FER tasks in adults with schizophrenia, AD, and MDD to identify possible transdiagnostic and disorder-specific alterations. However, no eligible studies were identified for AD.
Methods: Following PRISMA guidelines, PubMed, Web of Science, and CINAHL were systematically searched from inception to February 2025 for MEG studies comparing adults with schizophrenia, AD, or MDD with healthy controls during implicit (i.e., passive viewing) or explicit (i.e., labeling) FER tasks.
Results: Eighteen studies met inclusion criteria (4 schizophrenia, 14 MDD, none in AD). Schizophrenia and MDD showed transdiagnostic MEG patterns across disorder-specific studies, including early temporal-cortical hyperactivation (50–150 ms) during implicit FER and early amygdala hyper-reactivity (within 100 ms) followed by prefrontal hypo-recruitment (100–500 ms) during explicit FER, with disrupted cortico-limbic connectivity. Schizophrenia was associated with specific increases in theta–gamma coupling and unidirectional visual-limbic-prefrontal connectivity during explicit FER. MDD showed a shift from early gamma hyper-synchrony (50–150 ms) to late beta/gamma hypo-synchrony (250–500 ms), with reduced fronto-limbic and fusiform–amygdala coupling.
Conclusions: MEG reveals a transdiagnostic signature of FER dysfunction that may be linked to social withdrawal and disorder-specific oscillatory patterns that may inform targeted neuromodulation.
DOI: 10.25549/uschist-c104-227429
title: Southern California alumni review, vol. 17, no. 6 (1936 Feb.)

description: Southern California alumni review, vol. 17, no. 6 (1936 February). Published twenty times a year.
DOI: 10.6084/m9.figshare.31375492.v1
title: Supplementary Material for: Magnetoencephalographic signatures of facial emotion processing in schizophrenia and major depressive disorder: a systematic review

description: Introduction: Social withdrawal is a frequent marker of functional decline in schizophrenia, Alzheimer’s disease (AD), and major depressive disorder (MDD), and is associated with deficits in facial-emotion recognition (FER). Magnetoencephalography (MEG) captures neuronal activity at millisecond resolution, enabling the assessment of fast oscillatory dynamics and functional connectivity during FER. This systematic review compares MEG responses during implicit and explicit FER tasks in adults with schizophrenia, AD, and MDD to identify possible transdiagnostic and disorder-specific alterations. However, no eligible studies were identified for AD.
Methods: Following PRISMA guidelines, PubMed, Web of Science, and CINAHL were systematically searched from inception to February 2025 for MEG studies comparing adults with schizophrenia, AD, or MDD with healthy controls during implicit (i.e., passive viewing) or explicit (i.e., labeling) FER tasks.
Results: Eighteen studies met inclusion criteria (4 schizophrenia, 14 MDD, none in AD). Schizophrenia and MDD showed transdiagnostic MEG patterns across disorder-specific studies, including early temporal-cortical hyperactivation (50–150 ms) during implicit FER and early amygdala hyper-reactivity (within 100 ms) followed by prefrontal hypo-recruitment (100–500 ms) during explicit FER, with disrupted cortico-limbic connectivity. Schizophrenia was associated with specific increases in theta–gamma coupling and unidirectional visual-limbic-prefrontal connectivity during explicit FER. MDD showed a shift from early gamma hyper-synchrony (50–150 ms) to late beta/gamma hypo-synchrony (250–500 ms), with reduced fronto-limbic and fusiform–amygdala coupling.
Conclusions: MEG reveals a transdiagnostic signature of FER dysfunction that may be linked to social withdrawal and disorder-specific oscillatory patterns that may inform targeted neuromodulation.
DOI: 10.6084/m9.figshare.31375495
title: Supplementary Material for: STXBP1 encephalopathy: Cannabidiol as a treatment option and expansion of the genotype-phenotype spectrum- Case reports

description: Introduction: STXBP1 encodes syntaxin-binding protein-1, a protein with a role in trafficking of syntaxin-1 to the synapse and synaptic neurotransmitter release. Mutations in STXBP1 are associated with a wide range of neurodevelopmental phenotypes including epilepsy, intellectual disability and movement disorders.
Case series: We report 4 individuals with pathogenic variants in STXBP1, including 2 previously unreported variants, presenting with a range of severity. 1 severely affected child with refractory seizures and distressing dystonia responded well to treatment with Cannabidiol, with both seizure cessation and improvement in tone. 
Conclusion: STXBP1 variants are associated with significant phenotypic pleiotropy and a wide spectrum of severity. Cannabidiol may be beneficial for severely affected individuals with seizures and movement disorders that are refractory to conventional treatments.
DOI: 10.6084/m9.figshare.31375495.v1
title: Supplementary Material for: STXBP1 encephalopathy: Cannabidiol as a treatment option and expansion of the genotype-phenotype spectrum- Case reports

description: Introduction: STXBP1 encodes syntaxin-binding protein-1, a protein with a role in trafficking of syntaxin-1 to the synapse and synaptic neurotransmitter release. Mutations in STXBP1 are associated with a wide range of neurodevelopmental phenotypes including epilepsy, intellectual disability and movement disorders.
Case series: We report 4 individuals with pathogenic variants in STXBP1, including 2 previously unreported variants, presenting with a range of severity. 1 severely affected child with refractory seizures and distressing dystonia responded well to treatment with Cannabidiol, with both seizure cessation and improvement in tone. 
Conclusion: STXBP1 variants are associated with significant phenotypic pleiotropy and a wide spectrum of severity. Cannabidiol may be beneficial for severely affected individuals with seizures and movement disorders that are refractory to conventional treatments.
DOI: 10.25549/uschist-c104-227433
title: Southern California alumni review, vol. 17, no. 6 (1936 Feb.)

description: Southern California alumni review, vol. 17, no. 6 (1936 February). Published twenty times a year.
DOI: 10.6084/m9.figshare.31375498
title: Supplementary Material for: Can sensor technologies accurately detect and monitor behavioural and psychological symptoms of dementia (BPSD)? - A Systematic Review

description: Introduction: Although sensor technologies hold potential for addressing challenges for the detection and management of behavioural and psychological symptoms of dementia (BPSD), their application in this context remains in its early stages. This review evaluated the accuracy of sensor technologies to detect and/or monitor neuropsychiatric symptoms in individuals with dementia, particularly in real-world home settings.
Methods: Systematic searches were conducted in five databases on the 20th of February 2025. Two independent reviewers performed data extraction, with a third reviewer resolving any disagreements. 
Results: Of 109 records meeting the inclusion criteria for full-text review, 17 studies were included. Sensor-based detection of agitation (number of studies, n = 6) and other common BPSD, specifically sleep (n = 5) and Activities of Daily Living (ADLs) (n = 3) shows early promise, particularly when multimodal data and machine learning techniques are employed. However, the current evidence base is limited by small, predominantly observational studies and inconsistent accuracy across studies. Predictive capabilities remain underdeveloped (n = 3), and the generalisability of findings across different settings is unproven.
Conclusions: This review highlights that the application of sensor technology for detecting and monitoring BPSD remains at an early stage, with existing evidence largely confined to a small subset of symptoms and providing limited clinimetric validation. Additionally, it emphasises the need for consensus on standard definitions, outcome measures, and validation methodologies to guide and inform future research, which can then leverage these technologies to improve the care and quality of life of persons with dementia and their caregivers.
DOI: 10.6084/m9.figshare.31375498.v1
title: Supplementary Material for: Can sensor technologies accurately detect and monitor behavioural and psychological symptoms of dementia (BPSD)? - A Systematic Review

description: Introduction: Although sensor technologies hold potential for addressing challenges for the detection and management of behavioural and psychological symptoms of dementia (BPSD), their application in this context remains in its early stages. This review evaluated the accuracy of sensor technologies to detect and/or monitor neuropsychiatric symptoms in individuals with dementia, particularly in real-world home settings.
Methods: Systematic searches were conducted in five databases on the 20th of February 2025. Two independent reviewers performed data extraction, with a third reviewer resolving any disagreements. 
Results: Of 109 records meeting the inclusion criteria for full-text review, 17 studies were included. Sensor-based detection of agitation (number of studies, n = 6) and other common BPSD, specifically sleep (n = 5) and Activities of Daily Living (ADLs) (n = 3) shows early promise, particularly when multimodal data and machine learning techniques are employed. However, the current evidence base is limited by small, predominantly observational studies and inconsistent accuracy across studies. Predictive capabilities remain underdeveloped (n = 3), and the generalisability of findings across different settings is unproven.
Conclusions: This review highlights that the application of sensor technology for detecting and monitoring BPSD remains at an early stage, with existing evidence largely confined to a small subset of symptoms and providing limited clinimetric validation. Additionally, it emphasises the need for consensus on standard definitions, outcome measures, and validation methodologies to guide and inform future research, which can then leverage these technologies to improve the care and quality of life of persons with dementia and their caregivers.
DOI: 10.25549/uschist-c104-227437
title: Southern California alumni review, vol. 17, no. 6 (1936 Feb.)

description: Southern California alumni review, vol. 17, no. 6 (1936 February). Published twenty times a year.
DOI: 10.6084/m9.figshare.31375501
title: Supplementary Material for: World's first revisional metabolic bariatric surgery under regional anesthesia: Laparoscopic conversion of sleeve gastrectomy to Roux-en-Y gastric bypass, a case report.

description: Background: Revisional Roux-en-Y gastric bypass (RYGB) after Laparoscopic sleeve gastrectomy (LSG) is effective and traditionally managed with general anesthesia (GA). Regional anesthesia techniques like combined thoracic spinal-epidural anesthesia (CTSEA) may offer advantages in reducing respiratory complications, early mobility and enhancing recovery, but their feasibility in complex revisional bariatric surgery remains unexplored.
Case Presentation: A 41-year-old female with recurrent weight gain (BMI 37.1 kg/m²) and reflux after LSG underwent revisional RYGB under CTSEA supplemented with bilateral superficial cervical plexus blocks (for shoulder pain prophylaxis) at her request and consent. Detailed anesthetic and surgical techniques are described. The 165-minute laparoscopic procedure was successfully completed without conversion to GA. The patient was comfortable intraoperatively and postoperatively.
Outcomes: The patient ambulated and resumed oral intake within hours. She was discharged on postoperative day one. Excellent pain control was achieved without systemic opioids. Surgeons reported high satisfaction with operating conditions and patient cooperation.
Conclusion: This case demonstrates the first documented successful performance of revisional RYGB (conversion from LSG) entirely under regional anesthesia (CTSEA with cervical blocks). It highlights the feasibility of this approach in a conversion procedure, resulting in enhanced recovery (early ambulation/oral intake, opioid avoidance, rapid discharge) and comparable surgical outcomes. This suggests regional anesthesia is a viable alternative to GA for selected patients undergoing complex bariatric surgery, warranting further comparative studies to evaluate its broader applicability, safety, and efficacy.
DOI: 10.6084/m9.figshare.31375501.v1
title: Supplementary Material for: World's first revisional metabolic bariatric surgery under regional anesthesia: Laparoscopic conversion of sleeve gastrectomy to Roux-en-Y gastric bypass, a case report.

description: Background: Revisional Roux-en-Y gastric bypass (RYGB) after Laparoscopic sleeve gastrectomy (LSG) is effective and traditionally managed with general anesthesia (GA). Regional anesthesia techniques like combined thoracic spinal-epidural anesthesia (CTSEA) may offer advantages in reducing respiratory complications, early mobility and enhancing recovery, but their feasibility in complex revisional bariatric surgery remains unexplored.
Case Presentation: A 41-year-old female with recurrent weight gain (BMI 37.1 kg/m²) and reflux after LSG underwent revisional RYGB under CTSEA supplemented with bilateral superficial cervical plexus blocks (for shoulder pain prophylaxis) at her request and consent. Detailed anesthetic and surgical techniques are described. The 165-minute laparoscopic procedure was successfully completed without conversion to GA. The patient was comfortable intraoperatively and postoperatively.
Outcomes: The patient ambulated and resumed oral intake within hours. She was discharged on postoperative day one. Excellent pain control was achieved without systemic opioids. Surgeons reported high satisfaction with operating conditions and patient cooperation.
Conclusion: This case demonstrates the first documented successful performance of revisional RYGB (conversion from LSG) entirely under regional anesthesia (CTSEA with cervical blocks). It highlights the feasibility of this approach in a conversion procedure, resulting in enhanced recovery (early ambulation/oral intake, opioid avoidance, rapid discharge) and comparable surgical outcomes. This suggests regional anesthesia is a viable alternative to GA for selected patients undergoing complex bariatric surgery, warranting further comparative studies to evaluate its broader applicability, safety, and efficacy.
DOI: 10.25549/uschist-c104-227439
title: Southern California alumni review, vol. 17, no. 6 (1936 Feb.)

description: Southern California alumni review, vol. 17, no. 6 (1936 February). Published twenty times a year.