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11 Results Found

  • Article
  • Open Access
10 Citations
5,547 Views
14 Pages

Hip Morphology in Mucolipidosis Type II

  • Luise Sophie Ammer,
  • Esmeralda Oussoren,
  • Nicole Maria Muschol,
  • Sandra Pohl and ,
  • Maria Estela Rubio-Gozalbo,
  • René Santer,
  • Ralf Stuecker,
  • Eik Vettorazzi and
  • Sandra Rafaela Breyer
  • + 4 authors+ 0 author

Mucolipidosis type II (MLII) is a rare lysosomal storage disorder caused by defective trafficking of lysosomal enzymes. Severe skeletal manifestations are a hallmark of the disease including hip dysplasia. This study aims to describe hip morphology a...

(This article belongs to the Special Issue Lysosomal Storage Disorders: Causes, Symptoms, Diagnosis, and Treatment)
  • Article
  • Open Access
3 Citations
2,533 Views
15 Pages

Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis—A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients

  • Luise Sophie Ammer,
  • Nicole Maria Muschol,
  • René Santer,
  • Annika Lang and ,
  • Sandra Rafaela Breyer,
  • Phillip Brenya Sasu,
  • Martin Petzoldt and
  • Thorsten Dohrmann
  • + 3 authors+ 0 author

24 June 2022

Mucolipidosis (ML) type II, intermediate, and III are lysosomal storage disorders with progressive multiorgan manifestations predisposing patients to a high risk of perioperative morbidity. The aims of the study were to systematically assess disease...

(This article belongs to the Special Issue Management of Acute and Chronic Complications of Lysosomal Storage Diseases in Children and Adults: Current Practice and Future Opportunities)
  • Article
  • Open Access
7 Citations
3,060 Views
15 Pages

CNS Manifestations in Mucolipidosis Type II—A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients

  • Luise Sophie Ammer,
  • Karolin Täuber,
  • Anna Perez,
  • Thorsten Dohrmann and ,
  • Jonas Denecke,
  • René Santer,
  • Ulrike Blümlein,
  • Ann-Kathrin Ozga,
  • Sandra Pohl and
  • Nicole Maria Muschol
  • + 5 authors+ 0 author

18 June 2023

Mucolipidosis type II (MLII), an ultra-rare lysosomal storage disorder, manifests as a fatal multi-systemic disease. Mental inhibition and progressive neurodegeneration are commonly reported disease manifestations. Nevertheless, longitudinal data on...

(This article belongs to the Section Clinical Neurology)
  • Article
  • Open Access
14 Citations
4,111 Views
14 Pages

Mistletoe (Viscum album) extracts have been used as alternative and complementary therapeutic preparations in multiple cancers for decades. Mistletoe lectins (ML-I, ML-II, and ML-III) are considered to be the main anticancer components of such prepar...

  • Article
  • Open Access
9 Citations
4,833 Views
19 Pages

Upregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGFβ in Mucolipidosis II Cells

  • Jarrod W. Barnes,
  • Megan Aarnio-Peterson,
  • Joy Norris,
  • Mark Haskins and ,
  • Heather Flanagan-Steet and
  • Richard Steet
  • + 1 author+ 0 author

26 April 2020

Mucolipidosis II (ML-II) is a lysosomal disease caused by defects in the carbohydrate-dependent sorting of soluble hydrolases to lysosomes. Altered growth factor signaling has been identified as a contributor to the phenotypes associated with ML-II a...

(This article belongs to the Special Issue Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches)
  • Article
  • Open Access
17 Citations
1,959 Views
16 Pages

Long-term coal mining in the Muli coal mine area of Qinghai Province has degraded soil quality and reduced microbial diversity, making it imperative to implement effective ecological restoration measures to restore soil quality and enhance ecosystem...

(This article belongs to the Section Environmental Microbiology)
  • Article
  • Open Access
19 Citations
6,615 Views
22 Pages

12 October 2024

Echocardiography (ECG) is a noninvasive technology that is widely used for recording heartbeats and diagnosing cardiac arrhythmias. However, interpreting ECG signals is challenging and may require substantial time from medical specialists. The evolut...

(This article belongs to the Section Computing and Artificial Intelligence)
  • Article
  • Open Access
34 Citations
5,686 Views
17 Pages

Personal Heart Health Monitoring Based on 1D Convolutional Neural Network

  • Antonella Nannavecchia,
  • Francesco Girardi,
  • Pio Raffaele Fina,
  • Michele Scalera and
  • Giovanni Dimauro

5 February 2021

The automated detection of suspicious anomalies in electrocardiogram (ECG) recordings allows frequent personal heart health monitoring and can drastically reduce the number of ECGs that need to be manually examined by the cardiologists, excluding tho...

(This article belongs to the Special Issue Deep Learning in Medical Image Analysis)
  • Article
  • Open Access
26 Citations
3,359 Views
20 Pages

26 July 2019

Residual life estimation is an important problem in reliability engineering. Traditional methods, which are based on time-to-failure distribution, have limitations for components of on-orbit satellites characterized as high reliability with small sam...

(This article belongs to the Section Applied Industrial Technologies)
  • Article
  • Open Access
24 Citations
7,229 Views
17 Pages

18 February 2019

The abnormal conduction of cardiac activity in the lower chamber of the heart (ventricular) can cause cardiac diseases and sometimes leads to sudden death. In this paper, the author proposed the Reservoir Computing (RC) based Echo State Networks (ESN...

(This article belongs to the Special Issue Wearable Wireless Devices)
  • Article
  • Open Access
2 Citations
1,828 Views
21 Pages

3 March 2026

Electrocardiography (ECG) is a key biosensing technique for assessing cardiac function and autonomic activity. Accurate detection of R-peaks and precise calculation of R-R intervals (RRIs) are essential for heart rate variability (HRV) analysis; howe...

(This article belongs to the Special Issue Emerging Trends in Deep Learning and Signal Processing for Wearable Biomedical Signal Analysis)