Successful treatment of immune checkpoint inhibitor-related periaortitis
We report a 64-year-old patient with melanoma receiving ipilimumab and nivolumab therapy who presented with a periaortic soft tissue mass around the abdominal aorta on restaging fluorodeoxyglucose positron emission tomography/computed tomography imaging. Clinical, laboratory, and radiologic findings resulted in a diagnosis of immune checkpoint inhibitor-related periaortitis. Periaortitis is a rare disease presenting with fibro-inflammatory tissue around the aorta and may lead to serious complications. Immune checkpoint inhibitors were discontinued, and the patient was treated with glucocorticoids, leading to a complete res...
Source: Swiss Medical Weekly - April 5, 2024 Category: General Medicine Authors: Elias D B ührer Ian L Alberts Lisa Christ Berna C Özdemir Source Type: research
Chronic underlying gastrointestinal amyloidosis was revealed by cardiac echography: a case report from Syria
CONCLUSION: This case reminds us to consider amyloidosis as a possible underlying cause for unexplained gastrointestinal symptoms such as diarrhoea, especially in bad economic situations where the diagnosis of rare diseases may be delayed.PMID:38576978 | PMC:PMC10990300 | DOI:10.1097/MS9.0000000000001901 (Source: Annals of Medicine)
Source: Annals of Medicine - April 5, 2024 Category: Internal Medicine Authors: Ali Asaad Yahia Ranjous Zein Aldeen Hassan Nazir Alahmad Lama Ghanimeh Ayman Ali Source Type: research
Gene editing as a therapeutic strategy for spinocerebellar ataxia type-3
Rev Neurol (Paris). 2024 Apr 4:S0035-3787(24)00478-8. doi: 10.1016/j.neurol.2024.03.003. Online ahead of print.ABSTRACTSpinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is a neurodegenerative disease caused by expanded polyglutamine repeats in exon 10 of the ataxin-3 gene, ATXN3. The accumulation of mutant ATXN3 protein leads to severe clinical manifestations and premature death. Clinically, SCA3 pathology is characterized by progressive ataxia leading to motor incoordination that may affect balance, gait and speech, and neuropathologically by a progressive degeneration of the spinal cord and cere...
Source: Revue Neurologique - April 5, 2024 Category: Neurology Authors: N D églon Source Type: research
Successful treatment of immune checkpoint inhibitor-related periaortitis
We report a 64-year-old patient with melanoma receiving ipilimumab and nivolumab therapy who presented with a periaortic soft tissue mass around the abdominal aorta on restaging fluorodeoxyglucose positron emission tomography/computed tomography imaging. Clinical, laboratory, and radiologic findings resulted in a diagnosis of immune checkpoint inhibitor-related periaortitis. Periaortitis is a rare disease presenting with fibro-inflammatory tissue around the aorta and may lead to serious complications. Immune checkpoint inhibitors were discontinued, and the patient was treated with glucocorticoids, leading to a complete res...
Source: Swiss Medical Weekly - April 5, 2024 Category: General Medicine Authors: Elias D B ührer Ian L Alberts Lisa Christ Berna C Özdemir Source Type: research
Successful treatment of immune checkpoint inhibitor-related periaortitis
We report a 64-year-old patient with melanoma receiving ipilimumab and nivolumab therapy who presented with a periaortic soft tissue mass around the abdominal aorta on restaging fluorodeoxyglucose positron emission tomography/computed tomography imaging. Clinical, laboratory, and radiologic findings resulted in a diagnosis of immune checkpoint inhibitor-related periaortitis. Periaortitis is a rare disease presenting with fibro-inflammatory tissue around the aorta and may lead to serious complications. Immune checkpoint inhibitors were discontinued, and the patient was treated with glucocorticoids, leading to a complete res...
Source: Swiss Medical Weekly - April 5, 2024 Category: General Medicine Authors: Elias D B ührer Ian L Alberts Lisa Christ Berna C Özdemir Source Type: research
Sleep disturbance in Angelman syndrome patients
Angelman syndrome (AS) is a neurodevelopmental disorder caused by abnormal expression of the maternal ubiquitin protein ligase E3A gene (UBE3A). As one of the most challenging symptoms and important focuses of ne... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 5, 2024 Category: Internal Medicine Authors: Song Qu, Junyi Wang, Xingying Guan, Cui Song and Yanyan Wang Tags: Review Source Type: research
GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease
Osteoporosis and its primary complication, fragility fractures, contribute to substantial global morbidity and mortality. Gaucher disease (GD) is caused by glucocerebrosidase (GBA1) deficiency, leading to skel... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 4, 2024 Category: Internal Medicine Authors: Chung-Hsing Wang, Yu ‐Nan Huang, Wen-Ling Liao, Ai-Ru Hsieh, Wei-De Lin, Kai-Wen Liu, Wen-Li Lu, Chieh‐Chen Huang, Yin-Hsiu Chien, Ni-Chung Lee, Pen-Hua Su and Fuu-Jen Tsai Tags: Research Source Type: research
Social support and medication adherence among adult myasthenia gravis patients in China: the mediating role of mental health and self-efficacy
Myasthenia gravis (MG), a rare chronic neuromuscular disorder, is characterized by progressive physical decline and requires long-term pharmacological treatment. Due to the decline of physical and social abili... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 4, 2024 Category: Internal Medicine Authors: Jiazhou Yu, Luyao Xie, Shanquan Chen, Zhilan Fang, Liling Zhu, Huanyu Zhang, Richard H. Xu, Huan Yang and Dong Dong Tags: Research Source Type: research
Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers
Traditional biochemical screening for neonatal inherited metabolic diseases has high false-positive rates and low positive predictive values, which are not conducive to early diagnosis and increase parents ’ an... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 4, 2024 Category: Internal Medicine Authors: Fang Guo, Lingna Zhou, Feng Zhang, Bin Yu, Yuqi Yang and Zhiwei Liu Tags: Research Source Type: research
Alaskapox virus renamed to avoid stigmatizing state and hurting tourism
Isolating and identifying a new virus is no easy task—nor is choosing an appropriate name for it, as scientists are once again finding out. This week a new poxvirus that had been called Alaskapox—for the state it was found֫ in—
was rechristened
after the death of an infected patient brought it into the media spotlight, sparking fears that the name could hurt tourism. From now on, Alaskapox is borealpox.
“It became clear that the name Alaskapox could be stigmatizing to Alaska,” says Joseph McLaughlin, Alaska’s state epidemiologist, who discovered the virus. Even the new name may have a problem h...
Source: Science of Aging Knowledge Environment - April 3, 2024 Category: Geriatrics Source Type: research
Messenger RNA technology shows first promise against a rare and deadly disease
The innovative technology behind some of the most successful COVID-19 vaccines is showing signs of success in treating a rare but dangerous metabolic disease. Researchers report today in
Nature
that regular infusions of messenger RNA (mRNA) coding for a missing enzyme may have slashed the rate of life-threatening medical emergencies in a handful of people with propionic acidemia, a condition in which toxic compounds build up in the body and damage organs.
The results from Moderna are the first published clinical data showing that mRNA, used in vaccines to deliver viral proteins that provoke an immune respon...
Source: Science of Aging Knowledge Environment - April 3, 2024 Category: Geriatrics Source Type: research
Bilateral synchronous double primary lung cancer: A case report
This study analyzed the clinical data of a patient with bilateral sDPLC, aiming to improve medical workers' understanding of the disease and avoid missed diagnosis and misdiagnosis.ABSTRACT: A 68-year-old male was admitted to the hospital with "intermittent cough and expectoration for two months." Enhanced chest computed tomography (CT) showed that the upper lobe of the left lung had a mass of high-density shadow, bronchial opening of the left lobe was thickened, lumen was narrow, and middle lobe of the right lung had a mass of high-density shadow. Bronchoscopy was performed to observe the microscopic characteristics of th...
Source: Clinical Lung Cancer - April 3, 2024 Category: Cancer & Oncology Authors: Jun Li Bo Yin Yong Liu Hai Huang Source Type: research
Bilateral synchronous double primary lung cancer: A case report
This study analyzed the clinical data of a patient with bilateral sDPLC, aiming to improve medical workers' understanding of the disease and avoid missed diagnosis and misdiagnosis.ABSTRACT: A 68-year-old male was admitted to the hospital with "intermittent cough and expectoration for two months." Enhanced chest computed tomography (CT) showed that the upper lobe of the left lung had a mass of high-density shadow, bronchial opening of the left lobe was thickened, lumen was narrow, and middle lobe of the right lung had a mass of high-density shadow. Bronchoscopy was performed to observe the microscopic characteristics of th...
Source: Clinical Lung Cancer - April 3, 2024 Category: Cancer & Oncology Authors: Jun Li Bo Yin Yong Liu Hai Huang Source Type: research
Trends from two decades of orphan designations in paediatric rare neuromuscular diseases
Rare diseases are characterized by substantial unmet need mostly because the majority have limited, or no treatment options and a large number also affect children. Since the inception of EU orphan regulation in 2000 the European Medicines Agency Committee for Orphan Medicinal Products has received several applications for paediatric rare neuromuscular diseases (PERAN) however treatment options remain limited.Here we discuss the results form an observational, retrospective, cross-sectional study to characterize the currently authorised orphan medicinal products (OMP) and orphan designations (OD) given to products for PERAN...
Source: Journal of the Neurological Sciences - April 3, 2024 Category: Neurology Authors: Dinah M. Duarte, Maria Beatriz da Silva Lima, Bruno Sepodes Tags: Review Article Source Type: research
Cancers, Vol. 16, Pages 1406: Progress in Biological Research and Treatment of Pseudomyxoma Peritonei
ei Wu
Pseudomyxoma peritonei (PMP) is a rare disease characterized by extensive peritoneal implantation and mass secretion of mucus after primary mucinous tumors of the appendix or other organ ruptures. Cytoreductive surgery (CRS) combined with hyperthermic intraperitoneal chemotherapy (HIPEC) is currently the preferred treatment, with excellent efficacy and safety, and is associated with breakthrough progress in long-term disease control and prolonged survival. However, the high recurrence rate of PMP is the key challenge in its treatment, which limits the clinical application of multiple rounds of CRS-HIPEC and does ...
Source: Cancers - April 3, 2024 Category: Cancer & Oncology Authors: Xi Li Guodong Liu Wei Wu Tags: Review Source Type: research
