scholarly journals Editorial of Special Issue “Fibrodysplasia Ossificans Progressiva: Studies on Disease Mechanism towards Novel Therapeutic Approaches”

Biomedicines ◽  
2022 ◽  
Vol 10 (1) ◽  
pp. 140
Author(s):  
Roberto Ravazzolo
Keyword(s):  
Genetic Disorder ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Special Issue ◽  
Therapeutic Approaches ◽  
Disease Mechanism ◽  
Rare Genetic Disorder ◽  
Review Articles ◽  
Novel Therapeutic

The Special Issue on “Fibrodysplasia Ossificans Progressiva: Studies on Disease Mechanism towards Novel Therapeutic Approaches” has published interesting and useful review articles and original experimental articles on fibrodysplasia ossificans progressiva (FOP), a very rare genetic disorder for which much effort is being devoted to search for a cure. In this editorial, I briefly cite the essential content of all the published articles.

scholarly journals Congenital Malformation of The Great Toe in Children. Did You Exclude Fibrodysplasia Ossificans Progressiva – FOP.

2021 ◽  
Author(s):  
Maria Kirstine Møller - Madsen ◽  
Darko Antičević
Keyword(s):  
Congenital Malformation ◽  
Genetic Disorder ◽  
Joint Stiffness ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Great Toe ◽  
Therapeutic Approaches ◽  
Dna Test ◽  
Growth Defects ◽  
Minor Injuries ◽  
Conventional Radiology

Abstract Background: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare and severely disabling genetic disorder. The worldwide prevalence is approximately 1 per 2 million. Heterozygous mutations in ACVR1/ALK2 gene exist in all sporadic and familial cases of FOP. The primary aim of this study is to describe the clinical course of three children suffering from FOP and followed for fifteen, twenty-two and forty years, respectively Secondary aim is to provide clinical advice on how to diagnose the condition with special reference to the great toes malformation and give current best therapeutic approaches.Results: All three cases characterized with malformed great toes initially followed by progressive loss of mobility for a period from fifteen to forty years. Conventional radiology indicates the diagnosis and RNA/DNA test confirm it.Conclusion: Congenital malformation of the great toes in early childhood may be the first clinical sign of FOP. A devastating disease due to its progressive formation of heterotopic ossifications in soft tissue even after minor injuries. Leading to progressive immobility, skeletal deformities, chronic pain, growth defects and disabling joint stiffness. No curative treatment exists today. Management is symptomatic combined with a prophylactic lifestyle avoiding blunt and pointed trauma including surgery.

scholarly journals Editorial for Special Issue: Achilles Curse and Remedy: Tendon Diseases from Pathophysiology to Novel Therapeutic Approaches

2020 ◽  
Vol 21 (20) ◽  
pp. 7454
Author(s):  
Denitsa Docheva
Keyword(s):  
Greek Mythology ◽  
Special Issue ◽  
Therapeutic Approaches ◽  
Novel Therapeutic

In Greek mythology, Achilles, the Greek hero, is almost invulnerable—except for his Achilles heel, whose injury resulted in his death[...]

Laron syndrome – A case Report

JMS SKIMS ◽  
2017 ◽  
Vol 20 (2) ◽  
pp. 104-106
Author(s):  
Javaid Ahmad Bhat ◽  
Moomin Hussain Bhat ◽  
Hilal Bhat ◽  
Mona Sood ◽  
Shariq Rashid Masoodi
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Hormone Receptor ◽  
Growth Hormone Receptor ◽  
Genetic Disorder ◽  
Female Child ◽  
Receptor Signaling ◽  
Laron Syndrome ◽  
Rare Genetic Disorder ◽  
Igf I

Background : Laron & colleagues (1966) reported a rare genetic disorder in Israliei Jewish sublings which was characterized by insensitivity to growth hormone due to abnormality in growth hormone receptor or post receptor signaling pathway.Case Report: We hereby report a case of a 5 year old female child who presented to us with features similar to Laron syndrome. The diagnosis was made & confirmed by various Lab. investigations like low IGF-I levels and managed accordingly. JMS 2017; 20 (2):104-106  

Anesthesia in Carvajal syndrome; the first case report

2020 ◽  
Vol 24 (1) ◽  
pp. 105-107
Author(s):  
Sedighe Shahhosseini ◽  
Reza Aminnejad ◽  
Amir Shafa ◽  
Mehrdad Memarzade
Keyword(s):  
Intensive Care ◽  
Case Report ◽  
Surgical Resection ◽  
Genetic Disorder ◽  
Anesthetic Technique ◽  
Close Monitoring ◽  
Anesthesia Management ◽  
Rare Genetic Disorder ◽  
First Case ◽  
Anesthetic Considerations

Carvajal syndrome is a rare genetic disorder. Patients reporting for surgery pose some difficulties in anesthesia management. In this case report we present the case of a 12-year-old boy, who was a known case of Carvajal syndrome, referred for surgical resection of perianal condyloma. Close monitoring of hemodynamic status is the mainstay of anesthetic considerations in such patients. As in any other challenging scenario, it should be kept in mind that ‘there is no safest anesthetic agent, nor the safest anesthetic technique; there is only the safest anesthesiologist’. Citation: Shahhosseini S, Aminnejad R, Shafa A, Memarzadeh M. Anesthesia in Carvajal syndrome; the first case report. Anaesth pain intensive care 2020;24(1):___ DOI: https://doi.org/10.35975/apic.v24i1.

Adipocytes-released Peptides Involved in the Control of Gastrointestinal Motility

2019 ◽  
Vol 20 (6) ◽  
pp. 614-629 ◽  
Author(s):  
Eglantina Idrizaj ◽  
Rachele Garella ◽  
Roberta Squecco ◽  
Maria Caterina Baccari
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Adipose Tissue ◽  
Gastrointestinal Motility ◽  
Diagnostic Tools ◽  
Therapeutic Approaches ◽  
Motor Responses ◽  
Gastrointestinal Motor ◽  
Treatment Of Obesity ◽  
Novel Therapeutic

The present review focuses on adipocytes-released peptides known to be involved in the control of gastrointestinal motility, acting both centrally and peripherally. Thus, four peptides have been taken into account: leptin, adiponectin, nesfatin-1, and apelin. The discussion of the related physiological or pathophysiological roles, based on the most recent findings, is intended to underlie the close interactions among adipose tissue, central nervous system, and gastrointestinal tract. The better understanding of this complex network, as gastrointestinal motor responses represent peripheral signals involved in the regulation of food intake through the gut-brain axis, may also furnish a cue for the development of either novel therapeutic approaches in the treatment of obesity and eating disorders or potential diagnostic tools.

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