Mucopolysaccharidoses Causing Valvular Heart Disease: Report and Review of Surgical Management

2017 ◽  
Vol 11 (4) ◽  
pp. NP22-NP24 ◽  
Author(s):  
Carlos O. Encarnacion ◽  
Dustin Hang ◽  
Michael Earing ◽  
Michael E. Mitchell
Keyword(s):  
Quality Of Life ◽  
Heart Disease ◽  
Surgical Management ◽  
Valvular Heart Disease ◽  
Surgical Intervention ◽  
Genetic Disorder ◽  
Type I ◽  
Mucopolysaccharidosis Type I ◽  
Scheie Syndrome

Mucopolysaccharidosis type I is a genetic disorder with impaired glycosaminoglycan degradation. Cardiac pathologic involvement in this subset of patients is predominantly valvular heart disease. Valvular heart disease seen in these patients will most likely require surgical intervention in their lifetime. Only a limited amount of reports are dedicated to the cardiac surgical management of mucopolysaccharidoses. We present the case of a 32-year-old female with Hurler-Scheie syndrome who required multiple valve replacements due to progression of valvular dysfunction and decline in the quality of life. Multidisciplinary evaluation and discussion early are crucial for quality of life optimization in this cohort of patients.

scholarly journals Trimetazidine improves health-related quality of life in operated valvular heart disease

2013 ◽  
Vol 34 (suppl 1) ◽  
pp. P3310-P3310
Author(s):  
I. R. Gaisin ◽  
A. S. Gazimzyanova ◽  
A. A. Galimova ◽  
M. A. Voronova ◽  
E. A. Chernikch ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Heart Disease ◽  
Valvular Heart Disease ◽  
Health Related Quality ◽  
Related Quality ◽  
Health Related

scholarly journals Surgical Treatment of Ledderhose Disease in Patient with Mucopolysaccharidosis Type I (Hurler-Sheie)

2015 ◽  
Vol 22 (1) ◽  
pp. 81-83
Author(s):  
N. A Koryshkov ◽  
L. K Mikhailova ◽  
A. S Khodjiev
Keyword(s):  
Surgical Intervention ◽  
Weight Bearing ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Plantar Aponeurosis ◽  
Enzyme Replacement ◽  
Ledderhose Disease ◽  
Early Surgical Intervention

Case report of a 29 years old female patient with mucopolysaccharidosis type I and Ledderhose disease is presented. Examination of plantar surfaces showed tumor like protrusions up to 6.5 cm, of irregular shape and extremely painful at palpation, on both feet. Resection of plantar aponeurosis and fibrotic nodes on both feet was performed against a background of pathogenetic enzyme replacement therapy. No complications were observed in postoperative period. This case illustrates that in such patients performance of early surgical intervention at specialized departments is possible and reasonable, as it enables to restore weight bearing ability of the foot as well as significantly increases the quality of life.

scholarly journals Concentric mastopexy for pubertal gynaecomastia in an African child

2020 ◽  
Vol 2020 (9) ◽  
Author(s):  
Afieharo I Michael ◽  
Olayinka A Olawoye ◽  
Odunayo M Oluwatosin
Keyword(s):  
Quality Of Life ◽  
Children And Adolescents ◽  
Surgical Management ◽  
Watchful Waiting ◽  
Surgical Intervention ◽  
Male Breast ◽  
African Child

Abstract Gynaecomastia refers to the enlargement of the male breast. It can be psychologically disturbing for children and adolescents as well as adults. While in children watchful waiting is advised as the gynaecomastia could resolve, surgical intervention becomes necessary where there is significant psychosocial disturbance. We present a case of an African child whose quality of life improved after correcting the gynaecomastia. We highlight the concentric mastopexy method in the surgical management of gynaecomastia.

scholarly journals Surgical Treatment of Ledderhose Disease in Patient with Mucopolysaccharidosis Type I (Hurler-Sheie)

2015 ◽  
pp. 81-83 ◽  
Author(s):  
N. A. Koryshkov ◽  
L. K. Mikhailova ◽  
A. S. Khodjiev
Keyword(s):  
Surgical Intervention ◽  
Weight Bearing ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Plantar Aponeurosis ◽  
Enzyme Replacement ◽  
Ledderhose Disease ◽  
Early Surgical Intervention

Case report of a 29 years old female patient with mucopolysaccharidosis type I and Ledderhose disease is presented. Examination of plantar surfaces showed tumor like protrusions up to 6.5 cm, of irregular shape and extremely painful at palpation, on both feet. Resection of plantar aponeurosis and fibrotic nodes on both feet was performed against a background of pathogenetic enzyme replacement therapy. No complications were observed in postoperative period. This case illustrates that in such patients performance of early surgical intervention at specialized departments is possible and reasonable, as it enables to restore weight bearing ability of the foot as well as significantly increases the quality of life.

scholarly journals Surgical Management of Encapsulating Peritoneal Sclerosis: A Case Report in Kidney Transplant Patient

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
R. Shahbazov ◽  
M. Talanian ◽  
J. L. Alejo ◽  
F. Azari ◽  
A. Agarwal ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Enteral Nutrition ◽  
Kidney Transplant ◽  
Surgical Management ◽  
Bowel Obstruction ◽  
Surgical Intervention ◽  
Clinical Syndrome ◽  
Kidney Transplant Patient ◽  
Gastrocutaneous Fistula

Introduction. Encapsulating peritoneal sclerosis (EPS) is a clinical syndrome of progressive fibrotic change in response to prolonged, repetitive, and typically severe insult to the peritoneal mesothelium, often occurring in the setting of peritoneal dialysis (PD). Clear guidelines for successful management remain elusive. We describe the successful surgical management of EPS in a 28-year-old male s/p deceased donor kidney transplant for end-stage renal disease (ESRD) secondary to focal segmental glomerulosclerosis (FSGS). This patient received PD for 7 years but changed to hemodialysis (HD) in the year of transplant due to consistent signs and symptoms of underdialysis. EPS was visualized at the time of transplant. Despite successful renal transplantation, EPS progressed to cause small bowel obstruction (SBO) requiring PEG-J placement for enteral nutrition and gastric decompression. The patient subsequently developed a chronic gastrocutaneous fistula necessitating chronic TPN and multiple admissions for pain crises and bowel obstruction. He was elected to undergo surgical intervention due to deteriorating quality of life and failure to thrive. Surgical management included an exploratory laparotomy with extensive lysis of adhesions (LOA), repair of gastrocutaneous fistula, and end ileostomy with Hartmann’s pouch. Postoperative imaging confirmed resolution of the SBO, and the patient was transitioned to NGT feeds and eventually only PO intake. He is continuing with PO nutrition, gaining weight, and free from dialysis.Conclusion. Surgical intervention with LOA and release of small intestine can be successful for definitive management of EPS in the proper setting. In cases such as this, where management with enteral nutrition fails secondary to ongoing obstructive episodes, surgical intervention can be pursued in the interest of preserving quality of life.

Surgical management of large glomus jugulare tumours: infra-and trans-temporal approach

1989 ◽  
Vol 103 (12) ◽  
pp. 1167-1180 ◽  
Author(s):  
D. A. Moffat ◽  
D. G. Hardy
Keyword(s):  
Quality Of Life ◽  
Surgical Management ◽  
Neurological Deficit ◽  
Clinical Presentation ◽  
Surgical Intervention ◽  
Cranial Nerves ◽  
Surgical Results ◽  
Historical Aspects ◽  
Post Operative Period

AbstractSurgery may have to be considered in the management of large glomus tumours since other modalities of treatment are not curative. The judicious use of surgical intervention is imperative since a neurological deficit involving the last four cranial nerves may ensue and consideration of the quality of life of the patient in the post-operative period is of paramount importance. A brief description of the historical aspects and pathology of these tumours is followed by an analysis of the clinical presentation, investigation and assessment of a series of 10 patients. Six patients underwent surgery and their tumours were removed by the infra-and trans-temporal approach. This is described and illustrated in detail and the surgical results presented.

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