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JRPMS 2018

Mini Review Article JRPMS, Vol 2, No 1, March 2018, p.2-6
Hypophosphatasia in adults
Antonia A. Kountouri, Anna Papadopoulou
Keywords: ALPL gene, PEA, PLP, Alkaline phosphatase, Asfotase alfa
Hypophosphatasia (HPP) is a sporadic inheritable disease. Patients suffer from defective bone and teeth mineralization, due to low levels of alkaline phosphatase (ALP). It is caused by mutations in the ALPL gene which encodes the tissue-nonspecific isoenzyme (TNAP or TRANSALP) of alkaline phosphatase. Hypophosphatasia is classified into six forms: lethal perinatal, benign prenatal, infantile, childhood, adult and odontohypophosphatasia. The adult form is the rarest and the mildest of all types characterized by low levels of alkaline phosphatase, increased levels of pyridoxal-5'-phosphate (PLP) in serum and increased levels of phosphoethanolamine (PEA) in urine. ALPL mutations associated with adult hypophosphatasia are either autosomal recessive or autosomal dominant. Patients' phenotype depends on the site of the enzyme these mutations affect. Although, there is not a treatment for this disease actually, enzyme replacement treatment (ERT) with asfotase alfa promises a lot to patients.
Case Report Article JRPMS, Vol 2, No 1, March 2018, p.7-11
Misdiagnosis of alkaptonuria in an elderly patient
Georgia C. Tseliou, Mayra P. Giannelou, Evangelos A. Boulios, Anastasia K. Klangou, George N. Katsoulis, George D. Bailas, Athanasios I. Georgountzos
Keywords: Alkaptonuria, Ochronosis, Homogentisic acid (HGA), Low back pain, Degenarative arthropathy
Alkaptonuria is a rare hereditary metabolic disorder, resulting from deficiency of enzyme homogentisate 1,2-dioxygenase (HGD). Its features include spine and peripheral joint arthritis, as well as bluish discoloration of cartilage tissues. We report a case of an 81 year old male with a 5 year history of low back pain and progressively increasing stiffness of the spine, incorrectly diagnosed as ankylosing spondylitis and treated with non steroid anti-inflammatory drugs (NSAIDs) and sulfasalazine. Diagnosis of alkaptonuria was based on the characteristic ochronotic pigmentation of ears and eyes cartilage and typical radiographic findings of the spine-narrowed intervertebral spaces and intervertebral disc calcification, combined with the presence of homogentisic acid in the patient’s urine. Complete history,physical and radiological examinations revealed severe degenerative arthropathy of knee, hip and shoulder joints, which had led to bilateral total hip and knee arthroplasty in the last 7 years. Due to the patient’s cardiovascular comorbidity and advanced age, surgical treatment of ochronotic spine arthropathy was not considered. Management of the patient was based on analgesic treatment and vitamin C. Although alkaptonuria is a rare disease it should be considered in patients, even the elderly ones, who present with low back pain and severe degenerative arthropathy.
Review Article JRPMS, Vol 2, No 1, March 2018, p.12-17
The role of CT and MRI in imaging of Paget bone disease
Spyridon G. Adamopoulos, Glykeria M. Petrocheilou
Keywords: Paget, Bone, Computed tomography, Magnetic resonance imaging
Paget disease (PD) is a common bone disease characterized by abnormal bone turnover that follows a disorderly osteoclastic overactivity. In typical PD, imaging assessment is accomplished with conventional radiography and bone scintigraphy. CT and MRI may have complementary roles in the imaging workflow of PD preventing inappropriate investigation and helping the management planning at an early stage. Apart from discovering incidental findings, CT and MRI contribute substantially to the diagnosis of less typical cases, the delineation of PD pathology in complex anatomic areas, the differential diagnosis from sinister causes and the accurate assessment of specific complications.
Case Report Article JRPMS, Vol 2, No 1, March 2018, p.18-21
Bilateral transient osteoporosis of the knees during pregnancy. A case report and review of the literature
Nikolaos Milonas, Panagiotis Touzopoulos, Christos P. Zafeiris, Nikolaos Papantoniou, Eufrosini Koutsoubeli, Athanasios Chatzigiannakis
Keywords: Transient osteoporosis, Knee, Pregnancy
Transient osteoporosis is a rare self-limited condition that affects mostly middle-aged men or women in the third trimester of pregnancy. The most commonly affected joint is the hip, while bilateral involvement of the knees is extremely rare. Complete resolution of symptoms and MRI findings occurs over 8 to 10 months after clinical onset. We present a case of a 40-year-old woman diagnosed with bilateral transient osteoporosis of the knees, in the early postpartum period treated for 6 months with calcitonin, analgesics and physiotherapy.
Review Article JRPMS, Vol 2, No 1, March 2018, p.22-30
The multiple roles of steroids and anabolic steroids and its relations to cardiovasular and musculoskeletal pathology: a brief review
Margarita Theodorakidou, Olti-Alexandra Nikola, George I. Lambrou
Keywords: Corticosteroids, Anabolic steroids, Cardiovascular, Musculoskeletal
Steroids are defined as compounds included in the family of terpenoid lipids. Specifically, anabolic steroids are synthetic steroids of the androgen steroids. Since the beginning of the 20th century, anabolic steroids have proven influence on physical strength, endurance and muscle tissue synthesis. They have been used both for military purposes as well as for athletic achievements. Their use has been expended thereafter up to the point that side-effects began to become apparent. To date, it is well documented that anabolic steroids have adverse side effects on the primary and secondary sex characteristics. Steroids attribute male characteristics to females, and, at the same time, sterility and erection dysfunctions to males. Several studies have shown that the use of anabolic steroids is connected to dysfunctions of the cardiovascular system. No direct adverse effects have been reported on the function of cardiovascular system during the use of anabolic steroids, however, it has been shown that there is an indirect connection between anabolic steroids and cardiovascular disease. Steroids elevate levels of cholesterol and triglycerides which both are related to high risk of cardiovascular disease. The present work reviews the hitherto known connections between steroids in general, both synthetic and naturally occurring to the risk or not of cardiovascular disease.