Osteogenesis imperfecta type III – a short review and an example of personalized surgery approach

Osteogenesis imperfecta (OI) or brittle bone disease, a heritable disorder of connective tissue, is the most common of the inherited disorders primarily affecting bone. There are approximately 400 individuals with OI in Croatia alone. The basis of this disease in European populations is mostly the result of defects in the structure or processing of collagen type I, an important protein of the extracellular matrix in many tissues. Although fractures occurring with no injury or minor injury are the hallmark of OI, other non-mineralized tissues can be affected as well. Four different types of the disease are commonly distinguished, ranging from a mild condition (type I) to a lethal one (type II). Types III and IV patients present with severe forms. Due to the relatively low prevalence in the general population, treating physicians have limited experience with this disease, both with children or adults. As an example of personalized surgery approach, we present an 11-year-old patient with OI type III. Before referral to our hospital, she was treated with 18 cycles of bisphosphonates as well as with several different surgical procedures. The patient underwent two surgeries at our hospital with a 5-month interval between them. Using the Fassier-Duval intramedullary telescoping nail, correction osteotomies of both femurs and lower legs in two separate settings were performed, with a very good final result

Osteogenesis imperfecta type III – a short review and an example of personalized surgery approach

Osteogenesis imperfecta (OI) or brittle bone disease, a heritable disorder of connective tissue, is the most common of the inherited disorders primarily affecting bone. There are approximately 400 individuals with OI in Croatia alone. The basis of this disease in European populations is mostly the result of defects in the structure or processing of collagen type I, an important protein of the extracellular matrix in many tissues. Although fractures occurring with no injury or minor injury are the hallmark of OI, other non-mineralized tissues can be affected as well. Four different types of the disease are commonly distinguished, ranging from a mild condition (type I) to a lethal one (type II). Types III and IV patients present with severe forms. Due to the relatively low prevalence in the general population, treating physicians have limited experience with this disease, both with children or adults. As an example of personalized surgery approach, we present an 11-year-old patient with OI type III. Before referral to our hospital, she was treated with 18 cycles of bisphosphonates as well as with several different surgical procedures. The patient underwent two surgeries at our hospital with a 5-month interval between them. Using the Fassier-Duval intramedullary telescoping nail, correction osteotomies of both femurs and lower legs in two separate settings were performed, with a very good final result

COVID-19 severity determinants – modulating effect of environmental factors

The new coronavirus that appeared in 2019 (SARS-CoV-2) caused the COVID-19 pandemic, which is responsible for over a million confirmed deaths in 2020, making it the most important event of the 21st century thus far and making SARS-CoV-2 the most scientifically studied virus. Most of those infected with the SARS-COV-2 virus (about 80%) recover quickly from the disease, showing minimal signs of inflammation, mostly similar to the common cold. We analyzed the possible explanations of this observation and demonstrated the association of relative humidity, temperature and IgG N-glycosylation with COVID-19 severity

Mesenchymal stem cells in orthopedics - a current perspective

Osteoarthritis is a common condition that can affect any joint in the body. It is encountered in all age groups, but with a higher incidence in the older population. There is no treatment currently available that would prevent the development or progression of osteoarthritis and the gold standard end-stage treatment is still total joint replacement surgery, which is not without its risks. Therefore, new approaches are considered daily to treat patients that are not yet at end-stage osteoarthritis, but still experience the most common symptoms of pain and joint dysfunction. Mesenchymal stem cell research offers new opportunities for osteoarthritis treatment as their paracrine effect exhibits clinical improvement in osteoarthritis patients, providing much-needed minimally invasive treatment options

Mesenchymal stem cells in orthopedics - a current perspective

Osteoarthritis is a common condition that can affect any joint in the body. It is encountered in all age groups, but with a higher incidence in the older population. There is no treatment currently available that would prevent the development or progression of osteoarthritis and the gold standard end-stage treatment is still total joint replacement surgery, which is not without its risks. Therefore, new approaches are considered daily to treat patients that are not yet at end-stage osteoarthritis, but still experience the most common symptoms of pain and joint dysfunction. Mesenchymal stem cell research offers new opportunities for osteoarthritis treatment as their paracrine effect exhibits clinical improvement in osteoarthritis patients, providing much-needed minimally invasive treatment options

COVID-19 severity determinants – modulating effect of environmental factors

The new coronavirus that appeared in 2019 (SARS-CoV-2) caused the COVID-19 pandemic, which is responsible for over a million confirmed deaths in 2020, making it the most important event of the 21st century thus far and making SARS-CoV-2 the most scientifically studied virus. Most of those infected with the SARS-COV-2 virus (about 80%) recover quickly from the disease, showing minimal signs of inflammation, mostly similar to the common cold. We analyzed the possible explanations of this observation and demonstrated the association of relative humidity, temperature and IgG N-glycosylation with COVID-19 severity

Pharmacogenomics – the key to personalized medicine

Different rates of drug metabolism and the effect of commonly prescribed drugs are often seen in clinical practice. Some of these differences can be predicted if the patient’s genetic profile is known by pharmacogenomic analysis, which done once, provides lifetime benefits. In the United States, adverse drug reactions are the fourth leading cause of death, costing their healthcare system about $136 billion annually. By implementing pharmacogenomic testing early in clinical algorithms, debilitating and potentially life-threatening side-effects can be predicted and avoided, which is particularly important in settings of pain therapy and anesthesia. In St. Catherine Specialty Hospital, this approach is readily advocated for our patients. Through the use of the RightMed panel, 25 genes coding for enzymes and other proteins important for drug function, are analyzed, and a pharmacogenomic-driven approach is taken by selecting the right drug, in the right dose, for the right patient

Pharmacogenomics – the key to personalized medicine

Different rates of drug metabolism and the effect of commonly prescribed drugs are often seen in clinical practice. Some of these differences can be predicted if the patient’s genetic profile is known by pharmacogenomic analysis, which done once, provides lifetime benefits. In the United States, adverse drug reactions are the fourth leading cause of death, costing their healthcare system about $136 billion annually. By implementing pharmacogenomic testing early in clinical algorithms, debilitating and potentially life-threatening side-effects can be predicted and avoided, which is particularly important in settings of pain therapy and anesthesia. In St. Catherine Specialty Hospital, this approach is readily advocated for our patients. Through the use of the RightMed panel, 25 genes coding for enzymes and other proteins important for drug function, are analyzed, and a pharmacogenomic-driven approach is taken by selecting the right drug, in the right dose, for the right patient

One-stage bilateral total hip replacement using direct anterior approach via „bikini“ incision: a case report

Background: Osteoarthritis (OA) is a musculoskeletal condition that is affecting an increasing number of individuals due to an aging population. The aim of our case report was to present one-stage bilateral efficient direct anterior total hip replacement via „bikini” incision, to describe the course of the operation, as well as the advantages and the disadvantages of this procedure. Case study: A 38-year old patient, without any comorbidities, presented with severe OA of both hips. Due to co-existing OA on both joints and the patient’s motivation and desire for faster recovery, he underwent a one-stage bilateral hip replacement using a direct anterior approach via a „bikini” incision. Physical therapy began immediately after the surgery and the patient was verticalized on the first postoperative day. Eight days after the procedure, the patient was discharged from the hospital. Conclusion: One-stage total hip replacement should be considered for patients with OA of both hips to reduce the postoperative hospital stay and the need for long-term rehabilitation

Anterior cruciate ligament reconstruction with anterolateral stabilization by a modified Lemaire technique in adolescent professional football player: a case report

Background: Anterior cruciate ligament (ACL) tear is one of the most common injuries in professional athletes. Additional procedures, such as anterolateral ligament reconstruction and lateral extra-articular tenodesis attempt to reduce rotational instability, the most common cause of re-injury in patients with a nonisolated ACL tear. Case study: A 17-year-old professional football player suffered a right knee injury in a direct hit to the lateral side of the knee. Magnetic resonance imaging showed anterior cruciate ligament tear and lateral knee structures soft tissue contusion. Due to the injury of the lateral structures and the increased risk of ACL rerupture, it was decided to perform ACL reconstruction with additional anterolateral stabilization by a modified Lemaire technique without additional screw fixation in the area of the lateral femoral epicondyle, which could damage the epiphyseal plate and, concurrently, impair bone growth. Conclusion: The addition of lateral extra-articular tenodesis by a modified Lemaire technique prevents rotational instability in a patient with expressed pivotshift before the surgery, without overconstraint of the knee and additional damage to the epiphyseal plate