Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients
Primary periodic paralysis (PPP) is an inherited disorders of ion channel dysfunction characterized by recurrent episodes of flaccid muscle weakness, which can classified as hypokalemic (HypoPP), normokalemic ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 12, 2024 Category: Internal Medicine Authors: Xuechao Zhao, Haofeng Ning, Lina Liu, Chaofeng Zhu, Yinghui Zhang, Guifang Sun, Huanan Ren and Xiangdong Kong Tags: Research Source Type: research
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
Clinicians traditionally aim to identify a singular explanation for the clinical presentation of a patient; however, in some cases, the diagnosis may remain elusive or fail to comprehensively explain the clini... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 12, 2024 Category: Internal Medicine Authors: Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin & hellip; Tags: Research Source Type: research
Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment
Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by iduronate-2-sulfatase gene (IDS) deficiency and downstream glycosaminoglycan accumulation. Two-thirds of patients present wit... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 12, 2024 Category: Internal Medicine Authors: Karen S. Yee, David Alexanderian, Susan Martin, Bimpe Olayinka-Amao and David A. H. Whiteman Tags: Research Source Type: research
Biological characteristics and clinical treatment of pulmonary sarcomatoid carcinoma: a narrative review
CONCLUSIONS: Although several studies have examined and assessed the TME of PSC, these are limited in quantity and quality, presenting challenges for research into the clinical treatment strategies for PSC. With the emergence of new technologies and the advancement of clinical research, for example, savolitinib's clinical study for MET exon 14 skipping mutations positive PSC patients have shown promising outcomes, more in-depth studies on PSC are eagerly anticipated.PMID:38601447 | PMC:PMC11002509 | DOI:10.21037/tlcr-24-127 (Source: Cell Research)
Source: Cell Research - April 11, 2024 Category: Cytology Authors: Yuxuan Wei Lei Wang Zheng Jin Qingzhu Jia Luka Brcic Tomohiro Akaba Qian Chu Source Type: research
Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents
Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a heterogeneous clinical presentation. Patients with FD may exhibit early signs/symptoms including neuropathic pain, gastrointestinal compl... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 11, 2024 Category: Internal Medicine Authors: Lisa Berry, Jerry Walter, Jack Johnson, Julia Alton, Janet Powers, Xavier Ll òria, Irene Koulinska, Meghan McGee and Dawn Laney Tags: Research Source Type: research
Diagnostic delay of sarcoidosis: an integrated systematic review
Sarcoidosis is a chronic inflammatory granulomatous disease of unknown cause. Delays in diagnosis can result in disease progression and poorer outcomes for patients. Our aim was to review the current literatur... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 11, 2024 Category: Internal Medicine Authors: Tergel Namsrai, Christine Phillips, Anne Parkinson, Dianne Gregory, Elaine Kelly, Matthew Cook and Jane Desborough Tags: Review Source Type: research
Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study
Glycogen storage disease type Ib (GSD Ib) is a rare disorder characterized by impaired glucose homeostasis caused by mutations in the SLC37A4 gene. It is a severe inherited metabolic disease associated with hypog... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 11, 2024 Category: Internal Medicine Authors: Yong-Xian Shao, Cui-Li Liang, Ya-Ying Su, Yun-Ting Lin, Zhi-Kun Lu, Rui-Zhu Lin, Zhi-Zi Zhou, Chun-Hua Zeng, Chun-Yan Tao, Zong-Cai Liu, Wen Zhang and Li Liu Tags: Research Source Type: research
Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease
The minimal clinically important difference (MCID) is the smallest change in outcome that physicians or patients would consider meaningful and is relevant when evaluating disease progression or the efficacy of... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 11, 2024 Category: Internal Medicine Authors: Kristl G. Claeys, Hani Kushlaf, Syed Raza, Noemi Hummel, Simon Shohet, Ian Keyzor, Agnieszka Kopiec, Ryan Graham, Brian Fox and Benedikt Schoser Tags: Research Source Type: research
Utilizing real-world evidence to investigate treatments in alternating hemiplegia of childhood: Implications for future trials in rare disease
Eur J Paediatr Neurol. 2024 Apr 6:S1090-3798(24)00040-0. doi: 10.1016/j.ejpn.2024.04.002. Online ahead of print.NO ABSTRACTPMID:38600015 | DOI:10.1016/j.ejpn.2024.04.002 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 10, 2024 Category: Neurology Authors: St éphane Auvin Source Type: research
A Rare Atypical Case of Asymptomatic and Spontaneous Intraneural Hematoma of Sural Nerve: A Case Report and Literature Review
Arch Plast Surg. 2024 Jan 24;51(2):208-211. doi: 10.1055/a-2218-8461. eCollection 2024 Mar.ABSTRACTIntraneural hematoma is a rare disease that results in an impaired nerve function because of bleeding around the peripheral nerve, with only 20 cases reported. Trauma, neoplasm, and bleeding disorders are known factors for intraneural hematoma. However, here we report atypical features of asymptomatic and spontaneous intraneural hematoma which are difficult to diagnose. A 60-year-old woman visited our clinic with the complaint of a palpable mass on the right calf. She reported no medical history or trauma to the right calf an...
Source: Archives of Plastic Surgery - April 10, 2024 Category: Cosmetic Surgery Authors: Shin Hyuk Kang Il Young Ahn Han Koo Kim Woo Ju Kim Soo Hyun Woo Seung Hyun Kang Soon Auck Hong Tae Hui Bae Source Type: research
Utilizing real-world evidence to investigate treatments in alternating hemiplegia of childhood: Implications for future trials in rare disease
Eur J Paediatr Neurol. 2024 Apr 6:S1090-3798(24)00040-0. doi: 10.1016/j.ejpn.2024.04.002. Online ahead of print.NO ABSTRACTPMID:38600015 | DOI:10.1016/j.ejpn.2024.04.002 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 10, 2024 Category: Neurology Authors: St éphane Auvin Source Type: research
A Rare Atypical Case of Asymptomatic and Spontaneous Intraneural Hematoma of Sural Nerve: A Case Report and Literature Review
Arch Plast Surg. 2024 Jan 24;51(2):208-211. doi: 10.1055/a-2218-8461. eCollection 2024 Mar.ABSTRACTIntraneural hematoma is a rare disease that results in an impaired nerve function because of bleeding around the peripheral nerve, with only 20 cases reported. Trauma, neoplasm, and bleeding disorders are known factors for intraneural hematoma. However, here we report atypical features of asymptomatic and spontaneous intraneural hematoma which are difficult to diagnose. A 60-year-old woman visited our clinic with the complaint of a palpable mass on the right calf. She reported no medical history or trauma to the right calf an...
Source: Archives of Plastic Surgery - April 10, 2024 Category: Cosmetic Surgery Authors: Shin Hyuk Kang Il Young Ahn Han Koo Kim Woo Ju Kim Soo Hyun Woo Seung Hyun Kang Soon Auck Hong Tae Hui Bae Source Type: research
Utilizing real-world evidence to investigate treatments in alternating hemiplegia of childhood: Implications for future trials in rare disease
Eur J Paediatr Neurol. 2024 Apr 6:S1090-3798(24)00040-0. doi: 10.1016/j.ejpn.2024.04.002. Online ahead of print.NO ABSTRACTPMID:38600015 | DOI:10.1016/j.ejpn.2024.04.002 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 10, 2024 Category: Neurology Authors: St éphane Auvin Source Type: research
A Rare Atypical Case of Asymptomatic and Spontaneous Intraneural Hematoma of Sural Nerve: A Case Report and Literature Review
Arch Plast Surg. 2024 Jan 24;51(2):208-211. doi: 10.1055/a-2218-8461. eCollection 2024 Mar.ABSTRACTIntraneural hematoma is a rare disease that results in an impaired nerve function because of bleeding around the peripheral nerve, with only 20 cases reported. Trauma, neoplasm, and bleeding disorders are known factors for intraneural hematoma. However, here we report atypical features of asymptomatic and spontaneous intraneural hematoma which are difficult to diagnose. A 60-year-old woman visited our clinic with the complaint of a palpable mass on the right calf. She reported no medical history or trauma to the right calf an...
Source: Archives of Plastic Surgery - April 10, 2024 Category: Cosmetic Surgery Authors: Shin Hyuk Kang Il Young Ahn Han Koo Kim Woo Ju Kim Soo Hyun Woo Seung Hyun Kang Soon Auck Hong Tae Hui Bae Source Type: research
