Fibrodysplasia Ossificans Progressiva

Zargar, Abdul Hamid; Laway, Bashir Ahmad; Masoodi, Shariq Rashid; Wani, Arshad Iqbal; Bashir, Muhammad Salman; Wani, Mudassir Maqbool

doi:10.5144/0256-4947.1999.525

Cited by 3 publications

(4 citation statements)

References 5 publications

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“…While commonly found in the population of England, the United States, Australia, New Zealand, Canada, South Africa, and France, it appears to be rare throughout Asia and Scandinavia. There are data suggesting that the severity and prevalence of Paget's disease is decreasing, but this could be artifactual in that earlier testing for Paget's disease by ALP evaluation in the 1970's may have reduced the pool of undiagnosed patients in the population (1,15,3,13,29). It is particularly diffi cult to obtain a true estimate of prevalence in a population as serum ALP may be elevated in as few as 14% of individuals with x-ray evidence of Paget's disease (1).…”

Section: Resultsmentioning

confidence: 99%

Causes of High Bone Alkaline Phosphatase

Saraç

Saygılı

2007

Biotechnology & Biotechnological Equipment

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Section: Resultsmentioning

confidence: 99%

Causes of High Bone Alkaline Phosphatase

Saraç

Saygılı

2007

Biotechnology & Biotechnological Equipment

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“…Fibrodysplasia ossificans progressiva (FOP) is an uncommon genetic disorder affecting connective tissues. To the best of our knowledge, it has only been reported in three individuals in Saudi Arabia [ 11 - 13 ]. Our case shows that there is a FOP that could mimic many other diseases; there might be a significant delay in the diagnosis, which may subject the patient to disease-related complications.…”

Section: Discussionmentioning

confidence: 99%

“…FOP is considered an ultra-rare disorder with an estimated prevalence of one in every two million people worldwide and no known geographic, ethnic, racial, or gender predilection [1,9]. To date, more than 600 cases have been reported in the literature in various countries around the world, with only three cases in Saudi Arabia [10][11][12][13]. Nevertheless, it is worth noting that about 90% of FOP cases are misdiagnosed, leading to a possible underestimation of its true prevalence [14].…”

Section: Introductionmentioning

confidence: 99%

Fibrodysplasia Ossificans Progressiva Mimics Generalized Dystonia Disorder: A Case Report

Makkawi,

Khojah,

Abualnaja

et al. 2023

Cureus

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Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant disorder characterized by congenital deformities of the big toes and the progressive formation of extra-skeletal bone within soft tissues. The underlying genetic cause of FOP is mostly due to gain-of-function mutations in the AVCR1/ALK2 genes. These mutations cause aberrant bone morphogenetic protein (BMP) signaling pathways and eventually result in cumulative musculoskeletal impairment. FOP has a prevalence of approximately one in every 2 million people worldwide, with nearly 90% of patients being misdiagnosed, possibly leading to an underestimation of its true prevalence. To the best of our knowledge, there are only three reported cases in Saudi Arabia. We report a case of a 21-year-old female patient, a product of a consanguineous marriage, referred to the neurology clinic for new-onset dysphagia and dysarthria in association with progressive painful muscle stiffness, which started at the age of four years. The diagnosis of generalized dystonia disorder was suspected, but eventually the whole exome sequencing showed a pathogenic missense mutation in the ACVR1 gene, confirming the diagnosis of FOP. FOP is a rare, debilitating disorder that can be difficult to diagnose and manage. Current research efforts are focused on early diagnosis and a high index of suspicion to help prevent unnecessary investigations and procedures, slow the progression of the disease, and promote patients’ quality of life and long-term outcomes.

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“…9). 161 On the other hand, zinc was examined relevant to a known antioxidant in the immune system, 162 and it was found that zinc supplementation inhibits the development of type 1 DM through inhibition of NF-B activation. 163 Dietary zinc supplementation was reported to decrease hyperglycemia and hyperinsulinemia in type 2 diabetic mice, suggesting that zinc plays an important role in pancreatic function and peripheral tissue glucose uptake.…”

Section: Insulin-mimetic Action Mechanism Of Vanadium and Zinc Complexesmentioning

confidence: 99%

Chemistry and Biochemistry of Insulin-Mimetic Vanadium and Zinc Complexes. Trial for Treatment of Diabetes Mellitus

Sakurai¹,

Katoh²,

Yoshikawa³

2006

Bulletin of the Chemical Society of Japan

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The number of patients suffering from diabetes mellitus (DM), which is a chronic metabolic disorder and mainly classified as either insulin-dependent type 1 or non-insulin-dependent type 2, is increasing throughout the world. The sequence of DM progression makes this disease a major health risk in regard to microvascular disease that leads to kidney failure, blindness, and nerve damage as well as macrovascular disease that leads to amputations, cardiovascular disease, and stroke. To treat DM, several types of insulin preparations and synthetic drugs for type 1 and type 2 DM, respectively, are in clinical use. However, there are several problems concerning the insulin preparations and synthetic drugs, such as physical and mental pain due to daily insulin injections and defects involving several side effects, respectively. Thus, the disease demands extraordinary effects to define pathobiochemical pathways and strategies for prevention and to find new therapeutic approaches. For this purpose, oxovanadium(IV) (vanadyl, VO 2þ ) and zinc(II) containing complexes have been explored as treatments for both types of DM. This article reviews the current state of research on insulin-mimetic and antidiabetic metal complexes, with special focus on paramagnetic vanadyl and diamagnetic zinc(II) complexes with different coordination modes, together with possible reaction mechanisms. New drug delivery systems involving enteric-coated capsulation and a biopolymer are also reviewed.One of the most important findings in the 20th century was that metal ions and their biomolecular complexes are essential for life on the earth and play roles in not only metalloproteins and metalloenzymes but also gene expression.1,2 This fundamental knowledge showed that our health, aging, physiological disorders and diseases are related to the state of the metal ions and their biomolecular complexes in our body. Some clinically useful metal-containing compounds and metal complexes known as metallopharmaceuticals that can regulate human health have been developed to treat or cure many types of diseases. The most distinctive examples are the platinum (Pt) anti-tumor agents, cisplatin and related newly developed Pt complexes, the gold (Au) orally active anti-rheumatoidal agent auronofin, the aluminum (Al) and zinc (Zn) anti-ulcer agents scralfate and polaprezinc, respectively, the selenium (Se) antiinflammatory agent ebselen, and the lithium (Li) anti-manicdepressive agent lithium carbonate.

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Fibrodysplasia Ossificans Progressiva

Cited by 3 publications

References 5 publications

Causes of High Bone Alkaline Phosphatase

Causes of High Bone Alkaline Phosphatase

Fibrodysplasia Ossificans Progressiva Mimics Generalized Dystonia Disorder: A Case Report

Chemistry and Biochemistry of Insulin-Mimetic Vanadium and Zinc Complexes. Trial for Treatment of Diabetes Mellitus

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