Elsevier
Since its creation in 2008, Rare Disease Day has played an important part in building a multi-disease, global and diverse community that is united in purpose. There are 300 million people in the world with rare diseases. Over 6000 rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering the same disease.
To help create awareness and mark Rare Diseases Day 2023, Elsevier presents a special collection of 58 journal articles and book chapters dedicated to rare diseases.
Rare, Available online 23 February 2023, In Press, Journal Pre-proof
On Rare Disease day, Elsevier has launched a new scientific journal called Rare. Open research in rare diseases. Elsevier dedicates a peer-reviewed publication specifically to these lesser known or unknown disorders, with the aim of having a clinical impact on the lives of patients and their families.
Elsevier,
Press Release, February 28th, 2023
"Year of the Zebra" will highlight one rare disease each week in 2023 on world's most watched healthcare video education channel, 'Osmosis from Elsevier,' to educate healthcare professionals and students and accelerate rare disease diagnosis and research
Elsevier,
eClinicalMedicine, Volume 54, December 2022
This Article supports SDG 3 by characterizing unmet needs and experiences of caregivers of patients with Erdheim-Chester disease and other histiocytic neoplasms and identifies factors associated with finding benefit and meaning-making in providing care for patients with rare cancers.
Mitochondrion, Volume 67, November 2022
Based on current studies, the incidence of Ewing sarcoma (ES) varies significantly by race and ethnicity, with the disease being most common in patients of European ancestry. However, race/ethnicity has generally been self-reported rather than formally evaluated at a population level using DNA evidence. Additionally, mitochondrial dysfunction is a hallmark of ES, yet there have been no reported studies of mitochondrial genetics in ES. Thus, we evaluated both the mitochondrial and nuclear ancestries of 420 pediatric ES patients in the United States using whole-genome sequencing.
![Overview of brain [64Cu]-ATSM retention and mitochondrial abnormalities in cells from Huntington's disease carriers, at premanifest and manifest disease stages, and in presymptomatic YAC128 mice.](https://prod.sdgresources.relx.com/sites/default/files/styles/sus_content_listing_image/public/mitochondrial_and_redox_modifications.jpg?itok=8Fybdkks "Overview of brain [64Cu]-ATSM retention and mitochondrial abnormalities in cells from Huntington's disease carriers, at premanifest and manifest disease stages, and in presymptomatic YAC128 mice.")
Redox biology, Volume 56, 1 October 2022
Deficits in mitochondrial function and redox deregulation have been attributed to Huntington's disease (HD). However, whether these changes occur in early stages of the disease and can be detected in vivo is still unclear. In this article, the authors analysed changes in mitochondrial function and production of reactive oxygen species (ROS) at early stages and with disease progression.
Redox Biology, Volume 56, October 2022
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder characterized by progressive muscle weakness. Adenine nucleotide translocator 1 (ANT1), the only 4q35 gene involved in mitochondrial function, is strongly expressed in FSHD skeletal muscle biopsies. However, its role in FSHD is unclear. In this study, we evaluated ANT1 overexpression effects in primary myoblasts from healthy controls and during Xenopus laevis organogenesis. We also compared ANT1 overexpression effects with the phenotype of FSHD muscle cells and biopsies.
Redox Biology, Volume 55, September 2022
Defects in Coenzyme Q (CoQ) metabolism have been associated with primary mitochondrial disorders, neurodegenerative diseases and metabolic conditions. The consequences of CoQ deficiency have not been fully addressed, and effective treatment remains challenging. This article provides key mechanistic insights into defects in CoQ metabolism and identifes potential disease biomarkers.
Elsevier,
Radiology Case Reports, Volume 17, August 2022
Schilder's disease is a rare form of multiple sclerosis. It concerns mostly teenagers and young adults. The Clinical signs and symptoms might be atypical for early multiple sclerosis which often mimics intracranial neoplasm or abscess.
Elsevier,
Mitochondrion, Volume 62, January 2022
A tissue biopsy to measure the role of mitochondria in the pathophysiology, is often not available. This article reviews biomarkers of mitochondrial dysfunction that can be measured in blood or blood cells suggests to use a panel of diverse blood biomarkers to identify a role of mitochondrial dysfunction.
Elsevier,
The Lancet Regional Health - Western Pacific, Volume 18, January 2022
This Article supports SDG 3 by estimating the prevalence of genetically confirmed facioscapulohumeral muscular dystrophy type 1, a rare disease, in China, showing that the estimated prevalence was 0.75 per million during 2001-2020.
PET Clinics, Volume 17, January 2022
This article ties to SDG 3. This clinical review article, published in PET Clinics, looks at the effect of artificial intelligence on medical imaging for rare diseases. Key point: There is a significant need to recognize the challenge of data imbalance in rare diseases and to make concerted efforts to provide technical recommendations and guidelines.
Mitochondrion, Volume 61, November 2021
Barth syndrome (BTHS) is a rare X-linked multisystem mitochondrial disease. It is caused by variants of the TAFAZZIN gene leading to abnormal cardiolipin. Normal cardiolipin is crucial for proper mitochondrial structure and function. This article reviews the little-discussed, but significant neuro/psychological aspects of BTHS and discusses potential pathogenic mechanisms and avenues for further research.
Elsevier,
Mitochondrion, Volume 60, September 2021
Mitochondrial myopathy (MM) encompasses a clinical heterogenous group of patients that can be difficult to diagnose. This article investigates whether changes in plasma lactate concentration during a 6-minute submaximal handgrip test (6MHGT) and a 20-minute post-exercise recovery period can be used as a diagnostic test for MM.
EClinicalMedicine, Volume 33, March 2021
This Article supports SDG 3 by highlighting the benefits of equipping a wider (non-specialist) workforce to deal with the demands of population screening for rare diseases such as spinal muscular atrophy through education programmes and access to expert opinions.
Elsevier,
The Lancet Regional Health - Western Pacific, Volume 1, August 2020
This Research Paper supports SDG 3 by demonstrating that the use of rapid whole-exome sequencing to detect rare genetic diseases can reduce health-care expenditure and achieve net healthcare cost-savings in clinical settings in Hong Kong.
Elsevier,
Mitochondrion, Volume 52, May 2020
Multiple symmetric lipomatosis (MSL) was responsive to non-surgical interventions. Introduction of lifestyle interventions coincided with dramatic improvement in MSL. This self-initiated N of 1 intervention was for MTTK c.8344A>G associated MSL Serendipitous finding of similar efficacy in a sibling was the basis for this study.
Free Radical Biology and Medicine, Volume 146, January 2020
Abnormal protein homeostasis (proteostasis), dysfunctional mitochondria, and aberrant redox signalling are often associated in neurodegenerative disorders, such as Huntington's (HD), Alzheimer's and Parkinson's diseases. It remains incompletely understood, however, how changes in redox signalling affect proteostasis mechanisms, including protein degradation pathways and unfolded protein responses (UPR). This article addresses this open question by investigating the interplay between redox signalling and proteostasis in a mouse model of HD, and by examining the in vivo effects of the mitochondria-targeted antioxidant MitoQ.
Elsevier,
The Lancet Global Health, Volume 7, September 2019
This study supports SDG 1, 3, and 6 and by assessing socioeconomic determinants of leprosy risk in over 33 milion Brazilian individuals and providing a robust assessment of the contribution of deprivation to the risk of leprosy, which is classified as a rare disease.
Free Radical Biology and Medicine, Volume 133, March 2019
Sideroblastic anemia (SA) is characterized by bone marrow ring sideoblasts (RSs). RS reflect abnormal iron accumulation in the mitochondria of erythroblasts. Congenital SA is caused by the mutation of genes involved in iron-heme metabolism. The most frequent form of congenital SA is X-linked SA due to ALAS2 gene mutation.
Hematology/Oncology Clinics of North America, Volume 32, February 2018
This article ties to SDG 3. This clinical review article, published in Hematology/Oncology Clinics, presents current understanding of the pathogenesis for each subtype of CD as of 2017. Although understanding of CD has slowly improved over the last 6 decades, leading to improved patient survival and quality of life, additional research is needed. The authors anticipate significant progress to be made in the coming years through research studies led by the CDCN, including the ACCELERATE (Advancing Castleman Care with an Electronic Longitudinal registry, E-Repository, And Treatment/Effectiveness research) Natural History Registry (www.CDCN.org/ACCELERATE), which is open for patient self-enrollment.
Journal of Allergy and Clinical Immunology, Volume 149, June 2022
Chronic spontaneous urticaria (CSU) is a debilitating mast cell-driven disease characterized by recurrent wheals and/or angioedema. Type IIb autoimmune CSU is mediated by autoantibodies that activate mast cells and is present in less than 10% of patients with CSU
Journal of Allergy and Clinical Immunology, Volume , 2022
The lung is a crucial immune organ continuously exposed to the external environment. Genetic defects that impair immune function, called inborn errors of immunity (IEI), often have lung disease as the initial and/or primary manifestation. Common types of lung disease seen in IEI include infectious complications and a diverse group of diffuse interstitial lung diseases.
Respiratory Physiology and Neurobiology, Volume 307, January 2023
Background: In patients with cystic fibrosis (CF), thoracic morphology and its role in respiratory function is conditioned by anthropometric factors, as well as by pathological changes. While the lungs are continuously monitored, examinations of potential thoracic cage adaptations to the disease are rare. Hence, the aim of this study was to investigate thoracic configuration, and its correlation to spirometry measures over time. Methods: In total, 344 high-resolution computed tomography (HRCT) examinations from 90 patients were assessed and analysed. Those results were subsequently related to spirometry measurements performed within the same period. Results: The cohort displayed no homogenous change in thoracic configuration over time, and correlation between thoracic area and spirometry variables could not be supported statistically. Conclusions: Although the current study included a larger cohort of patients with CF compared to previous studies on thoracic morphology, no patient group-specific changes in thoracic configuration were revealed. Furthermore, no correlations between structural findings and functional respiratory measurements were found.
Respiratory Physiology and Neurobiology, Volume 302, August 2022
Background: Indices of ventilation heterogeneity (VH) from multiple breath washout (MBW) have been shown to correlate well with VH indices derived from hyperpolarised gas ventilation MRI. Here we report the prediction of ventilation distributions from MBW data using a mathematical model, and the comparison of these predictions with imaging data. Methods: We developed computer simulations of the ventilation distribution in the lungs to model MBW measurement with 3 parameters: σV, determining the extent of VH; V0, the lung volume; and VD, the dead-space volume. These were inferred for each individual from supine MBW data recorded from 25 patients with cystic fibrosis (CF) using approximate Bayesian computation. The fitted models were used to predict the distribution of gas imaged by 3He ventilation MRI measurements collected from the same visit. Results: The MRI indices measured (I1/3, the fraction of pixels below one-third of the mean intensity and ICV, the coefficient of variation of pixel intensity) correlated strongly with those predicted by the MBW model fits (r=0.93,0.88 respectively). There was also good agreement between predicted and measured MRI indices (mean bias ± limits of agreement: I1/3:−0.003±0.118 and ICV:−0.004±0.298). Fitted model parameters were robust to truncation of MBW data. Conclusion: We have shown that the ventilation distribution in the lung can be inferred from an MBW signal, and verified this using ventilation MRI. The Bayesian method employed extracts this information with fewer breath cycles than required for LCI, reducing acquisition time required, and gives uncertainty bounds, which are important for clinical decision making.
SLAS Discovery, Volume 26, December 2021
"A diverse range of biochemical and cellular assays are used by medicinal chemists to guide compound optimization. The data collected from these assays influence decisions taken on structure-activity relationship (SAR) campaigns. Therefore, it is paramount that medicinal chemists have a solid understanding of the strengths and limitations of each assay being used to characterize synthesized analogs.
This Perspective Article takes a look at assays relevant to Gaucher, Pompei, Wolman, and Fabry disease, Duchenne muscular dystrophy, and Cystic Fibrosis."
Elsevier,
SLAS Discovery, Volume 26, October 2021
Organoids are three-dimensional, functional structures that mimic in vivo organs. They offer new opportunities for the modeling of cancer and infectious and rare hereditary diseases. Furthermore, the advent of organoid biobanks opens new avenues for drug screening in a personalized fashion and holds much promise for personalized regenerative medicine. Thus, there is a need for reproducible, large-scale organoid generation with minimal variability, making manual approaches impracticable. Here, we review the current use of automation in organoid culture and analysis, using cerebral and retinal organoids as illustrations of current applications. An increased demand for automated organoid platforms is anticipated.
Free Radical Biology and Medicine, Volume 173, September 2021
There is an urgent need to endorse a protective therapy for ALS patients. Possible treatments might be based on the underlying molecular pathophysiology. Some of the ALS dysregulated routes could be targeted by a single hit in NRF2. NRF2 emerged as a druggable target in preclinical and clinical trials for ALS.
Redox Biology, Volume 45, September 2021
Niemann-Pick type C (NPC) disease, a lysosomal storage disorder caused by defective NPC1/NPC2 function, results in the accumulation of cholesterol and glycosphingolipids in lysosomes of affected organs, such as liver and brain. Moreover, increase of mitochondrial cholesterol (mchol) content and impaired mitochondrial function and GSH depletion contribute to NPC disease. However, the underlying mechanism of mchol accumulation in NPC disease remains unknown. As STARD1 is crucial in intramitochondrial cholesterol trafficking and acid ceramidase (ACDase) has been shown to regulate STARD1, we explored the functional relationship between ACDase and STARD1 in NPC disease.
SLAS Discovery, Volume 26, June 2021
Collaborative efforts between public and private entities such as academic institutions, governments, and pharmaceutical companies form an integral part of scientific research, and notable instances of such initiatives have been created within the life science community. Several examples of alliances exist with the broad goal of collaborating toward scientific advancement and improved public welfare. Such collaborations can be essential in catalyzing breaking areas of science within high-risk or global public health strategies that may have otherwise not progressed. A common term used to describe these alliances is public-private partnership (PPP). This review discusses different aspects of such partnerships in drug discovery/development and provides example applications as well as successful case studies. Specific areas that are covered include PPPs for sharing compounds at various phases of the drug discovery process—from compound collections for hit identification to sharing clinical candidates. Instances of PPPs to support better data integration and build better machine learning models are also discussed. The review also provides examples of PPPs that address the gap in knowledge or resources among involved parties and advance drug discovery, especially in disease areas with unfulfilled and/or social needs, like neurological disorders, cancer, and neglected and rare diseases.
Free Radical Biology and Medicine, Volume 166, April 2021
In the β-thalassemias, oxidative stress, resulting from chronic hemolysis, globin chain imbalance, iron overload and depleted antioxidant defences, likely contributes to cell death, organ damage, anemia, hypoxia and inflammation. We assessed variations in these parameters in β-thalassemia syndromes in Sri Lanka.
Redox Biology, Volume 40, April 2021
Fanconi anemia (FA) has been investigated since early studies based on two definitions, namely defective DNA repair and proinflammatory condition. The former definition has built up the grounds for FA diagnosis as excess sensitivity of patients’ cells to xenobiotics as diepoxybutane and mitomycin C, resulting in typical chromosomal abnormalities. Another line of studies has related FA phenotype to a prooxidant state, as detected by both in vitro and ex vivo studies. The discovery that the FA group G (FANCG) protein is found in mitochondria (Mukhopadhyay et al., 2006) has been followed by an extensive line of studies providing evidence for multiple links between other FA gene products and mitochondrial dysfunction. The fact that FA proteins are encoded by nuclear, not mitochondrial DNA does not prevent these proteins to hamper mitochondrial function, as it is recognized that most mitochondrial proteins are of nuclear origin. This body of evidence supporting a central role of mitochondrial dysfunction, along with redox imbalance in FA, should lead to the re-definition of FA as a mitochondrial disease.
SLAS Discovery, Volume 26, February 2021
Cystic fibrosis (CF) is caused by a mutation of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, which disrupts an ion channel involved in hydration maintenance via anion homeostasis. Nearly 5% of CF patients possess one or more copies of the G542X allele, which results in a stop codon at residue 542, preventing full-length CFTR protein synthesis. Identifying small-molecule modulators of mutant CFTR biosynthesis that affect the readthrough of this and other premature termination codons to synthesize a fully functional CFTR protein represents a novel target area of drug discovery. We describe the implementation and integration for large-scale screening of a homogeneous, 1536-well functional G542X-CFTR readthrough assay. The assay uses HEK 293 cells engineered to overexpress the G542X-CFTR mutant, whose functional activity is monitored with a membrane potential dye. Cells are co-incubated with a CFTR amplifier and CFTR corrector to maximize mRNA levels and trafficking of CFTR to the cell surface. Compounds that allow translational readthrough and synthesis of functional CFTR chloride channels are reflected by changes in membrane potential in response to cAMP stimulation with forskolin and CFTR channel potentiation with genistein. Assay statistics yielded Z′ values of 0.69 ± 0.06. As further evidence of its suitability for high-throughput screening, we completed automated screening of approximately 666,000 compounds, identifying 7761 initial hits. Following secondary and tertiary assays, we identified 188 confirmed hit compounds with low and submicromolar potencies. Thus, this approach takes advantage of a phenotypic screen with high-throughput scalability to identify new small-molecule G542X-CFTR readthrough modulators.
Redox Biology, Volume 38, January 2021
Imbalances in redox homeostasis can result in oxidative stress, which is implicated in various pathological conditions including the fatal neuromuscular disease Duchenne Muscular Dystrophy (DMD). DMD is a complicated disease, with many druggable targets at the cellular and molecular level including calcium-mediated muscle degeneration; mitochondrial dysfunction; oxidative stress; inflammation; insufficient muscle regeneration and dysregulated protein and organelle maintenance. Previous investigative therapeutics tended to isolate and focus on just one of these targets and, consequently, therapeutic activity has been limited. Nuclear erythroid 2-related factor 2 (Nrf2) is a transcription factor that upregulates many cytoprotective gene products in response to oxidants and other toxic stressors. Unlike other strategies, targeted Nrf2 activation has the potential to simultaneously modulate separate pathological features of DMD to amplify therapeutic benefits. Here, we review the literature providing theoretical context for targeting Nrf2 as a disease modifying treatment against DMD.
SLAS Discovery, Volume 25, 1 March 2020
Coenzyme Q10 (CoQ10) deficiency syndrome is a rare disease included in the family of mitochondrial diseases, which is a heterogeneous group of genetic disorders characterized by defective energy production. CoQ10 biosynthesis in humans requires at least 11 gene products acting in a multiprotein complex within mitochondria. The high-throughput screening (HTS) method based on the stabilization of the CoQ biosynthesis complex (Q-synthome) produced by the COQ8 gene overexpression is proven here to be a successful method for identifying new molecules from natural extracts that are able to bypass the CoQ6 deficiency in yeast mutant cells. The main features of the new approach are the combination of two yeast targets defective in genes with different functions on CoQ6 biosynthesis to secure the versatility of the molecule identified, the use of glycerol as a nonfermentable carbon source providing a wide growth window, and the stringent conditions required to mark an extract as positive. The application of this pilot approach to a representative subset of 1200 samples of the Library of Natural Products of Fundación MEDINA resulted in the finding of nine positive extracts. The fractionation of three of the nine extracts allowed the identification of five molecules; two of them are present in molecule databases of natural extracts and three are nondescribed molecules. The use of this screening method opens the possibility of discovering molecules with CoQ10-bypassing action useful as therapeutic agents to fight against mitochondrial diseases in human patients.
SLAS Discovery, Volume 24, 1 August 2019
High-throughput screening for drug discovery is increasingly utilizing cellular systems of high physiological relevance, such as patient primary cells and organoid cultures. We used 3D-cultured cystic fibrosis patient bronchial epithelial cells to screen for new small-molecule correctors of the disease-causing F508del mutation in CFTR. Impaired mucociliary clearance due to insufficient airway hydration is a hallmark of cystic fibrosis and we used a simple measure of surface liquid levels to quantify F508del CFTR correction in cultured bronchial epithelial cells. Two robust assay formats were configured and used to screen more than 100,000 compounds as mixtures or individual compounds in 96-well format. The corrector discovery success rate, as measured by the number of hits confirmed by an electrophysiology assay on patient primary bronchial epithelial cells, was superior to screens in cell lines expressing recombinant F508del CFTR. Several novel corrector scaffolds were discovered that when combined with the clinical corrector VX-809 delivered combination responses greater than double that of VX-809 alone. This work exemplifies the advantages of a disease-relevant readout and 3D-cultured patient primary cells for the discovery of new drug candidates.
Elsevier,
SLAS Technology, Volume 24, 1 April 2019
Cystic fibrosis is a genetic disease affecting more than 70,000 people worldwide. Caused by a mutation in the CFTR gene, cystic fibrosis can result in difficulty breathing, widespread bacterial infections, edema, malnutrition, pancreatitis, and death. Current drug-based treatments struggle to reach the site of action due to the thick mucus, and only manage symptoms such as blocked airways, lung infections, and limited ability to digest food. Nanotechnology opens up possibilities for improved treatment strategies by focusing on drug penetration through the mucus lining, eliminating resulting bacterial infections, and targeting the underlying genetic cause of the disease. In this review, we present recent nanoparticle developments for cystic fibrosis, challenges in nanomedicine therapeutics, and future research directions in gene editing and nonviral vectors for gene delivery.
Mitochondrion, Volume 31, 1 November 2016
Mitochondrial respiratory chain dysfunction causes a variety of life-threatening diseases affecting about 1 in 4300 adults. These diseases are genetically heterogeneous, but have the same outcome; reduced activity of mitochondrial respiratory chain complexes causing decreased ATP production and potentially toxic accumulation of metabolites. Severity and tissue specificity of these effects varies between patients by unknown mechanisms and treatment options are limited. So far most research has focused on the complexes themselves, and the impact on overall cellular metabolism is largely unclear. To illustrate how computer modelling can be used to better understand the potential impact of these disorders and inspire new research directions and treatments, we simulated them using a computer model of human cardiomyocyte mitochondrial metabolism containing over 300 characterised reactions and transport steps with experimental parameters taken from the literature. Overall, simulations were consistent with patient symptoms, supporting their biological and medical significance. These simulations predicted: complex I deficiencies could be compensated using multiple pathways; complex II deficiencies had less metabolic flexibility due to impacting both the TCA cycle and the respiratory chain; and complex III and IV deficiencies caused greatest decreases in ATP production with metabolic consequences that parallel hypoxia. Our study demonstrates how results from computer models can be compared to a clinical phenotype and used as a tool for hypothesis generation for subsequent experimental testing. These simulations can enhance understanding of dysfunctional mitochondrial metabolism and suggest new avenues for research into treatment of mitochondrial disease and other areas of mitochondrial dysfunction.
Radiology Case Reports,
Volume 18, Issue 3,
2023,
Pages 1232-1238
Kallmann syndrome (KS) is a rare genetic disorder that refers to the association between hypogonadotropic hypogonadism and anosmia or hyposmia due to abnormal migration of olfactory axons and gonadotropin-releasing hormone-producing neurons.
The Lancet Regional Health - Americas,
Volume 18,
2023,
100434
In response to the UN-resolution from 2021, these authorsprovide recommendations for lawmakers and policymakers in Brazil, Peru, and Colombia on how to improve public policies and national legislation for persons living with rare diseases in these three countries, based on interviews with patient advocacy groups.
Journal of Cardiology,
Volume 75, Issue 4,
2020,
Pages 424-431
This study examines the relationship the extracellular volume fraction (ECV) measured using cardiac magnetic resonance (CMR) T1 mapping and cardiac events in symptomatic adults with tetralogy of Fallot (the most common form of cyanotic congenital heart disease). A correlation is found between right ventricular (RV) volume and ejection fraction (EF); with RV- and septum-extracellular volumes (ECV) in this disease. In particular, the combination of septum-ECV and RVEF was a useful predictor, compared to the use of a single CMR parameter. This study supports SDG 3 Good health and wellbeing.
Elsevier,
Asian Journal of Surgery,
Volume 46, Issue 1,
2023,
Pages 24-34
The treatment of achalasia is continuously improved for the development of technology, but each treatment has its own advantages and disadvantages. After a network meta-analysis of different treatment for achalasia, this study found that application of anterior peroral endoscopic myotomy was the best treatment to improve achalasia symptoms in a 12-month follow up but had high risk of gastroesophageal reflux disease. This study supports SDG 3 Good health and wellbeing.
Elsevier,
Asian Journal of Surgery,
Volume 44, Issue 1,
2021,
Pages 158-163,
Achalasia cardia is a primary motor disease of the esophagus characterized by failure of lower oesophageal sphincter (LES) relaxation and eventual loss of normal oesophageal peristalsis. This study finds that laparoscopic Heller myotomy and anterior Dor is both safe and effective as a definitive treatment for treating achalasia cardia with a high degree of patient satisfaction with minimal complications, and it supports SDG 3 Good health and wellbeing
Elsevier,
Asian Journal of Surgery,
Volume 43, Issue 1,
2020
The treatment of choice for esophageal achalasia is Laparoscopic Heller Myotomy (LHM) with partial fundoplication However, the choice of the partial fundoplication should be left to surgeon experience and tailored on each patient.
Asian Journal of Surgery,
Volume 45, Issue 7,
2022
The diagnostic value of X-RAY is usually limiting for Langerhans cell histiocytosis (LCH) - a rare disease that occurs at all ages, but the range of lessions including the extent of bone destruction can be better described by CT. In general, treatment methods include follow-up, intrathecal steroid injection, chemotherapy or radiotherapy, and surgical resection.
Elsevier,
Asian Journal of Surgery,
Volume 45, Issue 12,
2022
Turner syndrome (TS) is a rare congenital ovarian hypoplasia. This letter to the editor outlines that it is easy to misdiagnose by simply relying on conventional karyotypes. TS patients should be diagnosed as soon as possible, and the chromosomal karyotype should be determined as soon as possible as the prognosis of gonadblastoma can be further differentiated into various malignant germ cell tumors.
Elsevier,
Journal of the Formosan Medical Association,
Volume 120, Issue 2,
2021
Patients with burning mouth syndrome (BMS) have burning sensation of the oral mucosa and occurs more commonly in middle-aged and elderly women. This study determines that gastric parietal cell antibody+BMS patients have significantly higher frequencies of macrocytosis, blood Hb and serum vitamin B12 deficiencies, and hyperhomocysteinemia than healthy control subjects or GPCA−BMS patients.
Elsevier,
Asian Journal of Surgery,
Volume 45, Issue 8,
2022
Rib Langerhans’ cell histiocytosis LCH is an easily overlooked etiology of chest pain. Radiological evaluations may help to determine the location, amount and features of bone LCH, but immunohistochemical results of focal tissues are essential in establishing the diagnosis.
Elsevier,
Kanski's Synopsis of Clinical Ophthalmology (Fourth edition)
2023, Pages 289-303
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by providing insight on a group of inherited disorders that have an effect on the RPE-photoreceptor complex and choriocapillaris, causing a range of symptoms and in many cases gradual visual loss.
Elsevier,
Treatment of Skin Disease (Fifth Edition)
Comprehensive Therapeutic Strategies
2018, Pages 579-581
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by providing insight into palmoplantar keratoderma, a heterogeneous group of disorders characterized by thickening of the palms and soles.
Elsevier,
Treatment of Skin Disease (Fifth Edition)
Comprehensive Therapeutic Strategies
2018, Pages 764-768
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by providing information on scleroderma, a rare multisystem disease characterized by skin fibrosis, autoantibody production, and vascular abnormalities often leading to visceral disease.
Elsevier,
iPSCs - State of the Science
Volume 16 in Advances in Stem Cell Biology
2022, Pages 197-224
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by focusing on the uses of iPSCs in inherited diseases and, particularly, in the case of Gaucher disease (GD).
Elsevier,
Esophageal Disease and the Role of the Microbiome
2023, Pages 91-114
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by providing information about esophageal squamous cell carcinoma (ESCC) and the upper aerodigestive microbiomes role in carcinogenesis and outcomes.
Elsevier,
Movement Disorders in Childhood (Third Edition)
2022, Pages 165-180
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by providing information on paroxysmal dyskinesias, a group of uncommon movement disorders that are characterized by episodes of abnormal movements arising from a baseline of normal or nearly normal movement.
Elsevier,
Neuroimaging in Parkinson' s Disease and Related Disorders
2023, Pages 355-397
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by providing insights into progressive supranuclear palsy (PSP), a neurodegenerative disorder pathologically characterized by accumulation of abnormal tau protein in subcortical nuclei neurons forming the neurofibrillary tangles, and in glial cells as tufted astrocytes and oligodendroglial inclusions.
Elsevier,
Clinical Immunology (Sixth Edition)
Principles and Practice
2023, Pages 573-585
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by focusing on the role of eosinophils in health and disease, including novel therapeutic approaches and their contribution to our understanding of the role that eosinophils play in homeostasis and pathogenesis.
Elsevier,
Clinical Immunology (Sixth Edition)
Principles and Practice
2023, Pages 832-842
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by advancing understanding of MG pathophysiology to improve current therapies and contribute to the development of novel, MG-specific therapeutics.
Elsevier,
Neurobiology of Brain Disorders (Second Edition)
Biological Basis of Neurological and Psychiatric Disorders
2023, Pages 147-164
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by providing the most recent scientific advances that have improved diagnostic abilities and showcasing experimental studies of gene therapy and conventional pharmacological treatments to lead to effective treatment of these hereditary disorders.
Elsevier,
Neurobiology of Brain Disorders (Second Edition)
Biological Basis of Neurological and Psychiatric Disorders
2023, Pages 233-251
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by highlighting amyotrophic lateral sclerosis (ALS), a neurodegenerative disease of the motor system characterized by focal and then generalized weakness leading to paralysis and death from respiratory failure.
Elsevier,
Neurobiology of Brain Disorders (Second Edition)
Biological Basis of Neurological and Psychiatric Disorders
2023, Pages 275-292
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by providing information on the clinical features, ethics, and neurobiology of HD and the exciting approaches being employed today to advance understanding of underlying mechanisms in an effort to develop therapies that would delay the onset and slow progression of this disease.
Elsevier,
Perloff's Clinical Recognition of Congenital Heart Disease (Seventh Edition)
2023, Pages 458-471
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by providing insights into truncus arteriosus, a failure of the aorta and pulmonary artery to separate into two distinct structures with their own semilunar valves.
Elsevier,
Maternal Cardiac Care
A Guide to Managing Pregnant Women with Heart Disease
2023, Pages 78-82
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by providing underlying pathophysiology, risk factors, and early warning signs of peripartum cardiomyopathy.
Elsevier,
Oncologic Imaging : a Multidisciplinary Approach (Second Edition)
2023, Pages 133-159
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by providing information on Cholangiocarcinoma (CCA), cancers that arise from biliary epithelium including intrahepatic cholangio (ICC), and gallbladder cancer (GB CA).
Elsevier,
Handbook of Clinical Neurology
Volume 185, 2022, Pages 81-97
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by providing coverage of the clinical syndrome of a primary progressive aphasia (PPA), the demographics of this rare neurodegenerative disease, defining clinical and neuroanatomic characteristics of each PPA variant, disease progression, and behavioral features.
Elsevier,
Endocrine Hypertension
From Basic Science to Clinical Practice
2023, Pages 113-125
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by bringing recognition to Congenital adrenal hyperplasia (CAH), a group of monogenic, autosomal recessive disorders.
Elsevier,
Clinical Ophthalmic Genetics and Genomics
2022, Pages 457-463
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by providing understaning of the genetics of retinoblastoma enabling clinicians to develop targeted screening guidelines based on genetic risk, minimising unnecessary screening exams, and focusing resources on individuals at greatest risk.
Elsevier,
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics (Seventh Edition)
Hematologic, Renal, and Immunologic Disorders
2023, Pages 115-124
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by bringing recognition to renal tubular disorders.
Elsevier,
The Chromosome 22q11.2 Deletion Syndrome
A Multidisciplinary Approach to Diagnosis and Treatment
2022, Pages 2-32
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by providing information about 22q11.2DS as a model for understanding rare and frequent congenital anomalies and medical conditions, which could provide the chance to better understand these distinct conditions while affording opportunities for translational strategies across the lifespan for both patients with 22q11.2DS and individuals with these associated features in the general population.
Elsevier,
Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics (Second Edition)
2023, Pages 431-449.e2
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by providing insights on disorders of sex development (DSD), a group of conditions in which prenatal sex development is not typical.
Elsevier,
Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics (Second Edition)
2023, Pages 661-671.e1
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by discussing the definition of hypertonia, its different clinical subtypes, clinical examination findings, scaling systems, pathophysiology, and finally the different treatment modalities.
Elsevier,
PET Clinics Volume 17, Issue 1, January 2022, Pages 13-29
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by showing how the issue of “inclusion” could be affected by the advancement of artificial intelligence (AI) in medicine through the interaction between rare diseases (RDs) and AI technology.
Elsevier,
Clinics in Liver Disease, Volume 26, Issue 4, November 2022, Pages 571-582
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by outlining the state-of-the-art regarding the genetic architecture of PBC and thoughtful reflections on the limitations of current genetic methods
Elsevier,
Hematology/Oncology Clinics of North America, Volume 32, Issue 1, February 2018, Pages 11-21
This content links with Goal 3: Good health and well-being and Goal 10: Reduced Inequalities by providing a summary of current understanding of the cause, cell types, signaling pathways, and effector cytokines implicated in pathogenesis.
Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T), Bloom syndrome (BS) and Nijmegen breakage syndrome (NBS) are characterised by immunodeficiency, extreme radiosensitivity, higher cancer susceptibility, premature aging, neurodegeneration and insulin resistance. Some of these functional abnormalities can be explained by aberrant DNA damage response and chromosomal instability. It has been suggested that one possible common denominator of these conditions could be chronic oxidative stress caused by endogenous ROS overproduction and impairment of mitochondrial homeostasis.
Mitochondrion, Volume 68, January 2023
TK2d is an ultrarare autosomal recessive mitochondrial DNA depletion syndrome. Nucleoside therapy improves or stabilizes disease across key outcomes including survival, ambulation, and requirement for mechanical ventilation. However, little is known about the effects of nucleoside therapy treatment of TK2d from the patient's perspective. This study sought to address this knowledge gap.
Respiratory Physiology and Neurobiology, Volume 307, January 2023
Background: In patients with cystic fibrosis (CF), thoracic morphology and its role in respiratory function is conditioned by anthropometric factors, as well as by pathological changes. While the lungs are continuously monitored, examinations of potential thoracic cage adaptations to the disease are rare. Hence, the aim of this study was to investigate thoracic configuration, and its correlation to spirometry measures over time. Methods: In total, 344 high-resolution computed tomography (HRCT) examinations from 90 patients were assessed and analysed. Those results were subsequently related to spirometry measurements performed within the same period. Results: The cohort displayed no homogenous change in thoracic configuration over time, and correlation between thoracic area and spirometry variables could not be supported statistically. Conclusions: Although the current study included a larger cohort of patients with CF compared to previous studies on thoracic morphology, no patient group-specific changes in thoracic configuration were revealed. Furthermore, no correlations between structural findings and functional respiratory measurements were found.
