"Rare diseases"

ATP-binding cassette (ABC) transporters play a crucial role for the efflux of a wide range of substrates across different cellular membranes. In the central nervous system (CNS), ABC transporters have recently gathered significant attention due to their pivotal involvement in brain physiology and neurodegenerative disorders, such as Alzheimer's disease (AD). Glial cells are fundamental for normal CNS function and engage with several ABC transporters in different ways. Here, we specifically highlight ABC transporters involved in the maintenance of brain homeostasis and their implications in its metabolic regulation...

Fibrous dysplasia (FD) is a rare bone disorder characterized by the replacement of normal bone with benign fibro-osseous tissue. Developments in our understanding of the pathophysiology and treatment options are impeded by the lack of suitable research models. In this study, we developed an in vitro organotypic model capable of recapitulating key intrinsic and phenotypic properties of FD. Initially, transcriptomic profiling of individual cells isolated from patient lesional tissues unveiled intralesional molecular and cellular heterogeneity...

PURPOSE OF REVIEW: Liposarcomas (LPSs) represent the most common soft tissue sarcoma (STS) subtype, and exhibit distinct clinical molecular features according to histological subgroup. Chemotherapy (ChT), and in particular anthracycline-based schedules, still remains the standard of treatment for all LPS forms. However, given the increasing knowledge gained throughout last years about LPS molecular biology and their genomic profiling, new therapeutic alternatives with targeted drugs are now to be considered...

INTRODUCTION: and Importance: Meckel's diverticulum is a rare congenital condition often detected incidentally. Meckel's diverticulum, a rare disease, may result in acute intestinal obstruction and is frequently misdiagnosed. This study aims to report a case of acute intestinal obstruction due to Meckel's diverticulum. CASE PRESENTATION: A 61-year-old Javanese man was admitted to the emergency room with a history of constipation, nausea, vomiting, and abdominal pain...

Paroxysmal nocturnal hemoglobinuria is a rare disease with the incidence ranging from 0.08 to 0.57 per 100,000 person-years. Up to 25% of cases in women are detected during pregnancy. We report two cases of successful pregnancy outcomes in patients treated with eculizumab, pointing out the importance of interdisciplinary approach in these high-risk pregnancies.

Idiopathic granulomatous vulvitis is an uncommon anogenital area disease described in the last few decades. It causes an inflammatory reaction that culminates in swelling and possibly distortion of the female anogenital area. Many reported cases consider this non-infectious entity the genital counterpart to granulomatous cheilitis. We here present a 64 years old female patient with idiopathic granulomatous vulvitis co-existing with lipodermatosclerosis, with the excellent response of the former condition to hydroxychloroquine and potent topical steroids...

INTRODUCTION: Lomitapide is approved for lowering low-density lipoprotein cholesterol (LDL-C) in homozygous familial hypercholesterolemia, which is a rare genetic disorder. The evidence regarding its safety and efficacy from a small clinical trial requires further validation for effectiveness and safety in the real world. This study aimed to use institutional data on the effectiveness and safety of lomitapide to assist in formulating a perspective on adding it to the formulary. METHODS: This was a retrospective review of patients who were actively prescribed lomitapide at King Abdulaziz Medical City, Riyadh, Saudi Arabia, from 2019 to 2022...

Hutchinson-Gilford Progeria Syndrome (HGPS) is an ultra-rare genetic premature aging disease that is historically fatal in teenage years, secondary to severe accelerated atherosclerosis. The only approved treatment is the farnesyltransferase inhibitor lonafarnib, which improves vascular structure and function, extending average untreated lifespan of 14.5 years by 4.3 years (30%). With this longer lifespan, calcific aortic stenosis (AS) was identified as an emerging critical risk factor for cardiac death in older patients...

Rare diseases are predominantly genetic or inherited, and patients with these conditions frequently exhibit neurological symptoms. Diagnosing and treating many rare diseases is a complex challenge, and their low prevalence complicates the performance of research, which in turn hinders the advancement of therapeutic options. One strategy to address this issue is the creation of national or international registries for rare diseases, which can help researchers monitor and investigate their natural progression...

To provide accurate predictions, current machine learning-based solutions require large, manually labeled training datasets. We implement persistent homology (PH), a topological tool for studying the pattern of data, to analyze echocardiography-based strain data and differentiate between rare diseases like constrictive pericarditis (CP) and restrictive cardiomyopathy (RCM). Patient population (retrospectively registered) included those presenting with heart failure due to CP (n = 51), RCM (n = 47), and patients without heart failure symptoms (n = 53)...

PURPOSE: Myasthenia is a rare disease in children, with an estimated incidence of 1 to 5 per million children. However, the potential severity of its consequences and the existence of specific treatments require prompt diagnosis by pediatric ophthalmologists. METHODS: Retrospective review of patient records. Patients were identified from a rare disease database. Patients under the age of 18 years with confirmed diagnosis of myasthenia and ocular symptoms seen in a specialized clinic between 2005 and 2021 were included...

The study of rare diseases has long been an area of challenge for medical researchers, with agonizingly slow movement towards improved understanding of pathophysiology and treatments compared with more common illnesses. The push towards evidence-based medicine (EBM), which prioritizes certain types of evidence over others, poses a particular issue when mapped onto rare diseases, which may not be feasibly investigated using the methodologies endorsed by EBM, due to a number of constraints. While other trial designs have been suggested to overcome these limitations (with varying success), perhaps the most recent and enthusiastically adopted is the application of artificial intelligence to rare disease data...

Amyloidosis can affect any organ in the body by deposition of amyloid fibrils. When these aggregate in the heart, it leads to cardiac amyloidosis a life-threatening and progressive disease. Although considered a rare condition, advances in imaging techniques and raised awareness have shown that it might be more frequent than has been historically estimated. Cardiac amyloidosis can be hereditary or occur as a consequence of the ageing process but, regardless of type, patients experience a heavy symptomatic burden...

BACKGROUND: Malignant struma ovarii (MSO) is a very rare disease in which thyroid cancer originates from the ovary. Because it is rare for endocrinologists to encounter patients with MSO, endocrinologists may have a limited understanding of the disease. Therefore, we analyzed and introduced its incidence and clinical course in a tertiary hospital in Korea. METHODS: We retrospectively investigated the clinical data of 170 patients who underwent surgery for struma ovarii at the Department of Obstetrics and Gynecology of Samsung Medical Center from 1994 to May 2023...

A 72-year-old female presented with 2 years of pro-gradient pain in the upper thoracic spine radiating to the left arm and leg. MRI revealed a 2.7 × 2.0 × 12 cm paravertebral mass at T2/T3, extending into the foraminal and epidural nerves with extensive dural sac contact in the left hemithorax. The removed tumour was surprisingly soft for a schwannoma or chordoma. However, after the surgery, histopathology revealed the presence of brachyury protein (T-box transcription factor T), which is characteristic of a chordoma...

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Harnessing the power of deep neural networks in the medical imaging domain is challenging due to the difficulties in acquiring large annotated datasets, especially for rare diseases, which involve high costs, time, and effort for annotation. Unsupervised disease detection methods, such as anomaly detection, can significantly reduce human effort in these scenarios. While anomaly detection typically focuses on learning from images of healthy subjects only, real-world situations often present unannotated datasets with a mixture of healthy and diseased subjects...

Pregnancy-associated atypical hemolytic uremic syndrome (P-aHUS) is a rare disease. There are only few reports in the literature, and most are in the puerperium period. It is a thrombotic microangiopathy (TMA) characterized for microangiopathic hemolytic anemia, thrombocytopenia, and renal dysfunction. We report the case of a pregnant patient at 26.3 gestation weeks, who developed clinical features of TMA, neurological alterations, and septic shock; then after fetus and placental delivery, no clinical improvement was observed; a diagnostic protocol was performed due to suspicion of P-aHUS, showing improvement after the plasma exchange sessions and eculizumab...

BACKGROUND: The pandemic presented unique challenges for individuals with autoimmune and rheumatic diseases (AIRDs) due to their underlying condition, the effects of immunosuppressive treatments, and increased vaccine hesitancy. OBJECTIVES: The COVID-19 vaccination in autoimmune diseases (COVAD) study, a series of ongoing, patient self-reported surveys were conceived with the vision of being a unique tool to gather patient perspectives on AIRDs. It involved a multinational, multicenter collaborative effort amidst a global lockdown...

BACKGROUND: There are novel medications approved for the treatment of hereditary transthyretin amyloidosis (ATTRv), classified as transthyretin (TTR) stabilizers or gene silencers. While many patients may be on both classes of medications, there is no data available on the safety and efficacy of combination therapy. OBJECTIVES: To describe ATTRv patient and TTR-targeted therapy characteristics in a US cohort, and compare outcomes with combination therapy versus monotherapy...