scholarly journals MUCOPOLYSACHARIDOSIS II AND SURGERY /REVIEW/

2020 ◽  
Vol 18 (2) ◽  
pp. 176-181
Author(s):  
K. Kalinova ◽  
K. Georgiev ◽  
I. Mladenova
Keyword(s):  
Carpal Tunnel Syndrome ◽  
Carpal Tunnel ◽  
Early Age ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
Surgical Interventions ◽  
Mps Ii ◽  
Tunnel Syndrome

Patients with type mucopolysaccharidosis/MPS/ II usually undergo surgery at an early age before the diagnosed. Mucopolysaccharidosis, type II is also known as Hunter syndrome.Recurrent early surgical interventions, especially for hernia or carpal tunnel syndrome, are characteristic of these patients.

HMI-203: Gene therapy developmental candidate for mucopolysaccharidosis type II (MPS II), or Hunter syndrome

2021 ◽  
Vol 132 ◽  
pp. S147
Author(s):  
Kruti Patel ◽  
Laura Smith ◽  
Tania Seabrook ◽  
Alec Tzianabos ◽  
Lindsay Schulman ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Hunter Syndrome ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
Mps Ii

scholarly journals The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II)

2020 ◽  
Vol 17 (18) ◽  
pp. 6590
Author(s):  
Miguel Sampayo-Cordero ◽  
Bernat Miguel-Huguet ◽  
Andrea Malfettone ◽  
José Manuel Pérez-García ◽  
Antonio Llombart-Cussac ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Systematic Reviews ◽  
Rare Diseases ◽  
Clinical Studies ◽  
Case Reports ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
Enzyme Replacement ◽  
Mps Ii

Background: Case reports are usually excluded from systematic reviews. Patients with rare diseases are more dependent on novel individualized strategies than patients with common diseases. We reviewed and summarized the novelties reported by case reports in mucopolysaccharidosis type II (MPS-II) patients treated with enzyme replacement therapy (ERT). Methods: We selected the case reports included in a previous meta-analysis of patients with MPS-II treated with ERT. Later clinical studies evaluating the same topic of those case reports were reported. Our primary aim was to summarize novelties reported in previous case reports. Secondary objectives analyzed the number of novelties evaluated in subsequent clinical studies and the time elapsed between the publication of the case report to the publication of the clinical study. Results: We identified 11 innovative proposals in case reports that had not been previously considered in clinical studies. Only two (18.2%) were analyzed in subsequent nonrandomized cohort studies. The other nine novelties (81.8%) were analyzed in later case reports (five) or were not included in ulterior studies (four) after more than five years from their first publication. Conclusions: Case reports should be included in systematic reviews of rare disease to obtain a comprehensive summary of the state of research and offer valuable information for healthcare practitioners.

scholarly journals Median Nerve Variation: A Complete Spin before Terminal Branching

2020 ◽  
Vol 15 (01) ◽  
pp. e1-e4
Author(s):  
Amgad S. Hanna ◽  
Zhikui Wei ◽  
Barbara A. Hanna
Keyword(s):  
Carpal Tunnel Syndrome ◽  
Median Nerve ◽  
Carpal Tunnel ◽  
Distal Forearm ◽  
Flexor Digitorum Superficialis ◽  
Anatomical Variant ◽  
Motor Branch ◽  
Surgical Interventions ◽  
Tunnel Syndrome ◽  
Flexor Digitorum

AbstractMedian nerve anatomy is of great interest to clinicians and scientists given the importance of this nerve and its association with diseases. A rare anatomical variant of the median nerve in the distal forearm and wrist was discovered during a cadaveric dissection. The median nerve was deep to the flexor digitorum superficialis (FDS) in the carpal tunnel. It underwent a 360-degree spin before emerging at the lateral edge of FDS. The recurrent motor branch moved from medial to lateral on the deep surface of the median nerve, as it approached the distal carpal tunnel. This variant doesn't fall into any of Lanz's four groups of median nerve anomalies. We propose a fifth group that involves variations in the course of the median nerve. This report underscores the importance of recognizing variants of the median nerve anatomy in the forearm and wrist during surgical interventions, such as for carpal tunnel syndrome.

scholarly journals Modeling Mucopolysaccharidosis Type II in the Fruit Fly by Using the RNA Interference Approach

Life ◽  
2020 ◽  
Vol 10 (11) ◽  
pp. 263
Author(s):  
Laura Rigon ◽  
Nicole Kucharowski ◽  
Franka Eckardt ◽  
Reinhard Bauer
Keyword(s):  
Rna Interference ◽  
Enzymatic Activity ◽  
Dermatan Sulfate ◽  
Fruit Fly ◽  
Neurological Involvement ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Lysosomal Storage ◽  
Mucopolysaccharidosis Type Ii ◽  
Mps Ii

Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder that occurs due to the deficit of the lysosomal enzyme iduronate 2-sulfatase (IDS) that leads to the storage of the glycosaminoglycan heparan- and dermatan-sulfate in all organs and tissues. It is characterized by important clinical features and the severe form presents with a heavy neurological involvement. However, almost nothing is known about the neuropathogenesis of MPS II. To address this issue, we developed a ubiquitous, neuronal, and glial-specific knockdown model in Drosophila melanogaster by using the RNA interference (RNAi) approach. Knockdown of the Ids/CG12014 gene resulted in a significant reduction of the Ids gene expression and enzymatic activity. However, glycosaminoglycan storage, survival, molecular markers (Atg8a, Lamp1, Rab11), and locomotion behavior were not affected. Even strongly reduced, IDS-activity was enough to prevent a pathological phenotype in a MPS II RNAi fruit fly. Thus, a Drosophila MPS II model requires complete abolishment of the enzymatic activity.

Cochrane corner: local corticosteroid injection for carpal tunnel syndrome

2013 ◽  
Vol 38 (8) ◽  
pp. 911-914 ◽  
Author(s):  
H. Stark ◽  
R. Amirfeyz
Keyword(s):  
Carpal Tunnel Syndrome ◽  
Confidence Intervals ◽  
Carpal Tunnel ◽  
Corticosteroid Injection ◽  
Signs And Symptoms ◽  
Clinical Syndrome ◽  
Surgical Interventions ◽  
Relative Risks ◽  
Tunnel Syndrome ◽  
Local Corticosteroid Injection

Background: Carpal tunnel syndrome is a clinical syndrome manifested by signs and symptoms of irritation of the median nerve at the carpal tunnel in the wrist. Local corticosteroid injection for carpal tunnel syndrome has been studied but its effectiveness is unknown. Objectives: To evaluate the effectiveness of local corticosteroid injection for carpal tunnel syndrome versus placebo injection or other non-surgical interventions. Search methods: We searched the Cochrane Neuromuscular Disease Group Trials register (searched May 2006), MEDLINE (searched January 1966 to May 2006), EMBASE (searched January 1980 to May 2006) and CINAHL (searched January 1982 to May 2006). Selection criteria: Randomized or quasi-randomized studies. Data collection and analysis: Three authors independently selected the trials and rated their overall quality. Relative risks and 95% confidence intervals were calculated for each trial and summary relative risks and 95% confidence intervals were also calculated.

scholarly journals Presentation and treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome)

2017 ◽  
Vol 5 (4) ◽  
pp. 295-307 ◽  
Author(s):  
Molly Stapleton ◽  
Francyne Kubaski ◽  
Robert W. Mason ◽  
Hiromasa Yabe ◽  
Yasuyuki Suzuki ◽  
...  
Keyword(s):  
Hunter Syndrome ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
Mps Ii
Sign in / Sign up

Export Citation Format

Share Document