Clinical differential factors in patients with hereditary transthyretin amyloidosis with Val142Ile and Ser43Asn mutations.

Background: Hereditary transthyretin amyloidosis (hATTR) is a rare autosomal dominant disease with high clinical variability, influenced by both genotype and the geographic origins of carriers. There is a limited understanding of the Val142Ile and Ser43Asn recognised mutations in Ecuador and Colombia. Therefore, the objective of this study is to describe the neurological and functional characteristics of patients with hATTR associated with the Val142Ile and Ser43Asn mutations, as well as to identify possible differentiating factors between the two mutations.

Proximal median nerve neuropathy: electrodiagnostic and ultrasound findings in 62 patients.

Objectives: Proximal median nerve (PMN) neuropathies are caused by lesions proximal to the carpal tunnel, which include the forearm, elbow, upper arm, and brachial plexus. Differentiating between carpal tunnel syndrome and PMN neuropathies is important to guide management and is based on clinical, electrodiagnostic (EDX), and ultrasound (US) findings. This study describes the clinical, EDX, and US features in 62 patients with PMNs.

Once-weekly semaglutide doubles the five-year risk of nonarteritic anterior ischemic optic neuropathy in a Danish cohort of 424,152 persons with type 2 diabetes.

Background: Nonarteritic anterior ischemic optic neuropathy (NAION) is an untreatable condition often causing severe and irreversible visual loss in the affected eye. As it has recently been implied that the use of semaglutide associates with NAION, the aim of the present study was to evaluate this risk prospectively in all persons with type 2 diabetes (T2D) in Denmark.

Methods: In a five-year longitudinal cohort study, we identified all persons with T2D in Denmark (n = 424,152) between 2018 and 2024.

Maintenance therapy with trofosfamide, idarubicin and etoposide in patients with rhabdomyosarcoma and other high-risk soft tissue sarcomas (CWS-2007-HR): a multicentre, open-label, randomised controlled phase 3 trial.

Background: Rhabdomyosarcoma and other soft tissue sarcomas (STS) with high-risk features are still associated with an unsatisfactory outcome. We evaluated the efficacy of oral maintenance therapy added at the end of standard therapy in patients with high-risk rhabdomyosarcoma and STS.

Methods: CWS-2007-HR was a multicentre, open-label, randomised controlled, phase 3 trial done at 87 centers in 5 countries.

Nerve ultrasound helps to distinguish CIDP patients with diabetes from patients with diabetic polyneuropathy.

Diabetic polyneuropathy (DPN) shares overlapping clinical and electrodiagnostic features with chronic inflammatory demyelinating polyneuropathy (CIDP), which complicates the differential diagnosis of CIDP in diabetic patients. 32 patients with diabetes mellitus and CIDP, 68 patients with CIDP without diabetes, 83 patients with DPN, and 28 diabetic patients without polyneuropathy were examined using clinical scores (Overall Neuropathy Limitation Scale (ONLS), Neuropathy Symptom Score, Neuropathy Deficit Score), nerve conduction studies, and nerve ultrasound (Ultrasound Pattern Sum Score (UPSS)). The ONLS was significantly higher in the CIDP patients with diabetes than in DPN (median [interquartile range]: 4.

[Cluster analysis and analysis of risk factors for hereditary transthyretin amyloidosis cardiomyopathy].

To explore the clinical characteristics and prognostic value in hereditary transthyretin amyloidosis cardiomyopathy (hATTR-CM) patients based on cluster analysis, and to explore the risk factors for cardiovascular composite events. This retrospective cohort study included hATTR-CM patients who were admitted to Peking Union Medical College Hospital from January 2000 to January 2024. These patients were divided into two clusters using cluster analysis, based on genetic information, demographic information and clinical information.

Enhancing Nerve Function and Reviving the Unrecordable: A Comprehensive Analysis of the Effects of a Dual Hydrodissection Protocol on Clinical and Nerve Conduction Parameters in Mild-Moderate and Severe Carpal Tunnel Syndrome.

Objective: This study evaluates the efficacy of a sequential dual one-month interval hydrodissection (HD) protocol in mild-moderate as well as severe carpal tunnel syndrome (CTS) cases, with a comprehensive analysis of clinical and electrophysiological outcomes.

Methods: A retrospective analysis was conducted on 286 patients (379 wrists) treated between 2021 and 2024 at two centers in India. The enrolled patient population was divided into mild-moderate and severe CTS subgroups.

Global and Regional Prevalence of Carpal Tunnel Syndrome: A Meta-Analysis Based on a Systematic Review.

Background: Carpal tunnel syndrome (CTS) is a considerable concern, impacting individual health and socio-economic factors. A systematic review and meta-analysis of CTS prevalence would offer valuable insights for healthcare planning, improving outcomes and reducing the burden on affected individuals.

Methods: In line with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, a meta-analysis was conducted to estimate the prevalence of CTS.

Neuromuscular transmission deficits in patients with CMT and ClC-1 inhibition in CMT animal models.

Objective: Charcot-Marie Tooth (CMT) is a hereditary neuropathy characterized by muscle weakness and fatigue with no approved therapies. Preclinical studies implicate neuromuscular junction (NMJ) transmission deficits in muscle dysfunction in CMT. This study aimed to evaluate NMJ function in patients with CMT types 1 and 2, and to determine whether enhancing NMJ transmission can improve muscle function in preclinical CMT models.

Ocular findings in neurosyphilis: a retrospective study from 2012 to 2022.

Purpose: This study aimed to investigate ocular manifestations in patients with neurosyphilis and their association with general indexes.

Methods: This retrospective study was conducted among patients who were hospitalized for neurosyphilis from 2012 to 2022. Clinical manifestations, laboratory tests, brain MRI, and ocular examinations were reviewed and analyzed.

Single-Stage Mini-Open Release for Bilateral Carpal Tunnel Syndrome - A Case Report.

Introduction: Carpal tunnel syndrome (CTS) is the most common compressive neuropathy, often leading to significant impairment, especially in patients with bilateral involvement. When conservative trials fail, surgical options such as open, mini-open, and endoscopic carpal tunnel release are considered. This report highlights the use of single-stage bilateral mini-open carpal tunnel release, emphasizing its efficiency, reduced recovery time, and cost-effectiveness.

Electrophysiological Monitoring of Asymptomatic Transthyretin Mutation Carriers.

Introduction/aims: It is imperative to screen asymptomatic carriers of transthyretin (TTR) mutations to initiate treatment early. The protocol for repeated electrodiagnostic (EDX) assessments over time lacks standardization. Our aim was to report the electrophysiological evolution of a cohort of asymptomatic carriers and to determine which biomarkers were most sensitive to change.

The diagnostic journey of patients being investigated for myopathy in a tertiary centre in England.

Myopathies are heterogenous and can provide a diagnostic puzzle. Many patients investigated for myopathy will go on to other diagnoses. An overall understanding of how patients are investigated for suspected myopathy is lacking.

Rehabilitation Management of a Patient with Median Nerve Entrapment from Venipuncture-associated Hematoma in Dengue Hemorrhagic Fever: A Case Report.

Dengue hemorrhagic fever is a severe form of dengue presenting commonly with bleeding diathesis, but rarely with peripheral nervous system manifestations. Proximal median neuropathy comprises 1% of upper limb compression syndromes, and this case is the first to report injury to the proximal median nerve due to compression from hematoma formation. This case report presents the rehabilitation process of a 25-year-old Filipino female median nerve entrapment from venipuncture-associated hematoma presenting as burning sensation on the medial elbow, forearm and hand, weak flexion movement of her left thumb, index, and middle fingers.

Disitamab vedotin plus toripalimab in patients with locally advanced or metastatic urothelial carcinoma (RC48-C014): a phase 1b/2 dose-escalation and dose-expansion study.

Background: HER2-targeted antibody-drug conjugates (ADCs) such as disitamab vedotin (DV) and trastuzumab deruxtecan (T-Dxd) have emerged as effective treatment options and received regulatory approvals for HER2 expressing locally advanced or metastatic urothelial carcinoma (la/mUC). In addition, ADCs in combination with immunotherapy have demonstrated anti-tumor activity. The current study aimed to evaluate the combination of DV and toripalimab in patients with la/mUC.

Ultrasonographic characteristics of peripheral neuropathy in systemic lupus erythematosus.

Objective: To explore the ultrasonographic characteristics of SLE-related peripheral neuropathy (PN) using nerve ultrasound.

Methods: Patients with SLE were recruited consecutively between December 2022 and June 2023. Detailed clinical assessment and nerve ultrasound were conducted on each SLE patient and healthy control (HC) at predetermined sites of peripheral nerves.

The Efficacy and Safety of Albumin-Bound Paclitaxel Combined With Anlotinib and PD-1/L1 Inhibitors For Treating Patients With Extensive-Stage Small Cell Lung Cancer and Brain Metastasis: A Retrospective Cohort Study.

Objectives: Extensive-stage small cell lung cancer (ES-SCLC) suffering from brain metastases (BM) has a poor prognosis and lacks effective treatment selection. In this study, we explored the efficacy and safety of combination treatment of albumin-bound paclitaxel (nab-ptx), anlotinib, and PD-1/L1 inhibitors for such special population.

Methods: A total of 55 patients diagnosed with ES-SCLC and BM were enrolled in this retrospective study.

F-Wave Features in Most Common Chinese Spinocerebellar Ataxias.

The use of F-wave study may help to gain insight into electrophysiological significance of spinocerebellar Ataxias (SCAs). Particularly, the difference of F-wave features between Chinese SCA1, SCA2 and SCA3 patients were scarcely reported. 20 SCA1, 20 SCA2, 46 SCA3 patients and 30 healthy controls underwent nerve (median, ulnar, tibial) conduction and F-wave studies, and electrophysiology parameters were compared between them.

Alternating modified CAPOX/CAPIRI plus bevacizumab in untreated unresectable metastatic colorectal cancer: a phase 2 trial.

Previous studies showed encouraging efficacy of alternating FOLFOX/FOLFIRI for metastatic colorectal cancer (mCRC). This phase 2 trial (NCT04324476) aimed to evaluate efficacy and safety of alternating modified CAPOX (capecitabine and oxaliplatin)/modified CAPIRI (capecitabine and irinotecan) plus bevacizumab (anti-VEGF-A antibody) in untreated unresectable mCRC. Induction treatment included capecitabine 1000 mg/m bid D2-8 and D16-22, oxaliplatin 85 mg/m D1, irinotecan 150 mg/m D15, and bevacizumab 5 mg/kg D1 and 15 for 28-day cycles (up to six cycles).

[Electroacupuncture for the prevention of chemotherapy-induced peripheral neuropathy: a randomized controlled trial].

Objective: To investigate the clinical effect of electroacupuncture (EA) in preventing chemotherapy-induced peripheral neuropathy (CIPN).

Methods: Fifty-two patients with breast cancer in the regimen of taxane-assisted/neoadjuvant chemotherapy, were randomly divided into an EA group (26 cases, 3 cases dropped out) and a usual care (UC) group (26 cases, 1 case dropped out). In the UC group, on the basis of standard chemotherapy regimen, the routine nursing was administered.

Median nerve impairment in leprosy: how does it differ from the classic carpal tunnel syndrome?

Background:  Carpal tunnel syndrome (CTS) has already been described as a possible form of neural leprosy presentation. However, the median nerve can be involved in this neuropathy in proximal segments and, sometimes, with an asymmetric impairment of the digital branches.

Objective:  To detail the pattern of median nerve impairment through nerve conduction study (NCS) and ultrasound evaluation.

Comparison of Clinical and Electrophysiologic Characteristics of Peripheral Neuropathy in Progressive Supranuclear Palsy and Parkinson's Disease: An Observational Study.

Background And Objectives: Although widely described in Parkinson's disease (PD), peripheral neuropathy (PNP) is scarcely reported in progressive supranuclear palsy (PSP). We aimed to compare the frequency, clinical and electrophysiologic characteristics of PNP in PSP and PD patients.

Methods: This cross-sectional study included 23 PSP and 93 PD patients.