Results 321 to 330 of about 12,874,292 (410)

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +1 more source

Treatment Landscape of Metabolic-Dysfunction-Associated Steatotic Liver Disease. [PDF]

J Clin Med
Patel P.
europepmc   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Impact of metabolic endoscopy on fibrosis regression in steatotic liver disease. [PDF]

World J Hepatol
Sierra L, Chatterjee A, Prado R, Khurana A, Patel R, Firkins S, Simons-Linares R.   +6 more
europepmc   +1 more source

Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with advanced disease.
Kathrin Reetz, Stella A. Lischewski, Jörg B. Schulz, Maximilian Praster, Miguel Pishnamaz, on behalf of the FACROSS study group, Imis Dogan, Sandro Romanzetti, Ravi Dadsena, Kerstin Konrad, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Nikolaus Marx, Julia Moellmann, Malte Jacobsen, Katharina Marx‐Schütt, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +20 more
wiley   +1 more source

Metabolic and immune links between sarcopenia and liver disease. [PDF]

World J Hepatol
Kotlyarov SN.
europepmc   +1 more source

Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen, Jing Zhang, Xinyue Zhou, Xiaoxiao Yu, Haodong Shang, Shufan Chen, Lulu Zhen, Jinru Wu, Guanlian Hu, Xiaoyan Zhu, Zhan Sun, Yiren Wang, Jiahui Wang, Jie Lv, Xue Zhao, Yingna Zhang, Wei Guo, Ying Peng, Feng Gao   +18 more
wiley   +1 more source

QT Interval Prolongation in Chronic Liver Disease: A Cross-Sectional Study. [PDF]

Cureus
Venkata Harischandra T, Zulqurnain A, Irshad A, Arif M, Abdul Razzak A, Tayyab M, Rehman AU.   +6 more
europepmc   +1 more source

Amyotrophic Lateral Sclerosis Prevalence Projection in 2040: A Less Rare Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To project ALS prevalence across multiple countries through 2040, accounting for both population aging and increased survival. Methods Data from the Piemonte and Valle d'Aosta ALS register (PARALS) was used to estimate the trends in incidence and prevalence from 2005 to 2019. Survival trends over this period were also assessed.
Rosario Vasta, Stefano Callegaro, Antonio Canosa, Umberto Manera, Maurizio Grassano, Francesca Palumbo, Sara Cabras, Enrico Matteoni, Francesca Di Pede, Filippo De Mattei, Salvatore Tafaro, Neil M. Thakur, Ryan Grosenick, Fabiola De Marchi, Letizia Mazzini, Cristina Moglia, Andrea Calvo, Kuldip D. Dave, Adriano Chiò   +18 more
wiley   +1 more source

Prophylactic Management of Vestibular Migraine: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Vestibular migraine (VM) is a neurological disorder characterized by episodic vertigo in patients with migraine, contributing to substantial functional impairment. Although VM is relatively common, a consensus on effective prophylactic treatments is lacking.
Hussain Ali Almohammed, Husna Irfan Thalib, Kawthar Faisal Kushara, Bushra Wadi Bin Saddiq, Bayan Mohammed Khair Al Zoabi, Tanveer Nidal Khan, Ahmed Salah Morad, Rimas Warid Aljuaid, Lamyaa Mohammed Gharawi, Shahad Jawdat Alsaygh, Mable Pereira, Shaima Abuhulayqah   +11 more
wiley   +1 more source