scholarly journals Mucopolysaccharidoses type IV A (Morquio syndrome): A case series of three siblings

Author(s):  
P Rekka ◽  
S Jagadeesh ◽  
PV Rathna ◽  
S Seshadri
2018 ◽  
Vol 8 (3) ◽  
pp. 266-269
Author(s):  
AKM Motiur Rahman Bhuiyan ◽  
Maftahul Jannat ◽  
Md Zilan Miah Sarker ◽  
Mohammad Tanvir Islam ◽  
Amit Roy Chowdhury

Morquio syndrome is a rare autosomal recessive disorder of mucopolysaccharide metabolism, also called mucopolysaccharidosis type IV. We report a case of Morquio syndrome in a16-year- old girl of normal intelligence, who got herself admitted in Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh. The patient had short stature and skeletal deformity and she belonged to a non-consanguineous marriage of her parents. She was diagnosed on the basis of clinical features, typical radiological changes and positive urinary mucopolysaccharide screening test.Birdem Med J 2018; 8(3): 266-269


2020 ◽  
Vol 55 (2) ◽  
pp. 176-180 ◽  
Author(s):  
Lucas Maciel Rabello ◽  
Iris Sophie Albers ◽  
Mathijs van Ark ◽  
Ron L. Diercks ◽  
Inge van den Akker-Scheek ◽  
...  

Context Several studies have been conducted to better understand the effect of load on the Achilles tendon structure. However, the effect of a high cumulative load consisting of repetitive cyclic movements, such as those that occur during the running of a marathon, on Achilles tendon structure is not yet clear. Clinicians, coaches, and athletes will benefit from knowledge about the effects of a marathon on the structure of the Achilles tendon. Objective To investigate the short-term response of the Achilles tendon structure to running a marathon. Design Case series (prospective). Setting Sports medicine centers. Patients or Other Participants Ten male nonelite runners who ran in a marathon. Main Outcomes Measure(s) Tendon structure was assessed before and 2 and 7 days after a marathon using ultrasound tissue characterization (UTC), an imaging tool that quantifies tendon organization in 4 echo types (I–IV). Echo type I represents the most stable echo pattern, and echo type IV, the least stable. Results At 7 days postmarathon, both the insertional and midportion structure changed significantly. At both sites, the percentage of echo type II increased (insertion P < .01; midportion P = .02) and the percentages of echo types III and IV decreased (type III: insertion P = .01; midportion P = .02; type IV: insertion P = .01; midportion P < .01). Additionally, at the insertion, the percentage of echo type I decreased (P < .01). Conclusions We observed the effects of running a marathon on the Achilles tendon structure 7 days after the event. Running the marathon combined with the activity performed shortly thereafter might have caused the changes in tendon structure. This result emphasizes the importance of sufficient recovery time after running a marathon to prevent overuse injuries.


2015 ◽  
Vol 19 (2) ◽  
pp. 117-123 ◽  
Author(s):  
D. P. Ashwin ◽  
G. D. Chandan ◽  
Handa Kaur Jasleen ◽  
G. C. Rajkumar ◽  
K. B. Rudresh ◽  
...  

2014 ◽  
Vol 111 (2) ◽  
pp. S105
Author(s):  
Shunji Tomatsu ◽  
Carlos J. Alméciga-Díaz ◽  
Hector Barbosa ◽  
Adriana M. Montaño ◽  
Tadao Orii

2015 ◽  
Vol 6 (10) ◽  
pp. 658
Author(s):  
Ali Akhtar ◽  
Sabina Manandhar ◽  
Eswat Ahmad

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