rs7041 and rs4588 Polymorphisms in Vitamin D Binding Protein Gene (VDBP) and the Risk of Diseases.

The purpose of the study was to investigate the role of vitamin D binding protein (VDBP, DBP) and its polymorphism in the vitamin D pathway and human health. This narrative review shows the latest literature on the most popular diseases that have previously been linked to VDBP. Vitamin D plays a crucial role in human metabolism, controlling phosphorus and calcium homeostasis. Vitamin D binding protein bonds vitamin D and its metabolites and transports them to target tissues. The most common polymorphisms in the VDBP gene are rs4588 and rs7041, which are located in exon 11 in domain III of the VDBP gene. rs4588 and rs7041 may be correlated with differences not only in vitamin D status in serum but also with vitamin D metabolites. This review supports the role of single nucleotide polymorphisms (SNPs) in the VDBP gene and presents the latest data showing correlations between VDBP variants with important human diseases such as obesity, diabetes mellitus, tuberculosis, chronic obstructive pulmonary disease, and others. In this review, we aim to systematize the knowledge regarding the occurrence of diseases and their relationship with vitamin D deficiencies, which may be caused by polymorphisms in the VDBP gene. Further research is required on the possible influence of SNPs, modifications in the structure of the binding protein, and their influence on the organism. It is also important to mention that most studies do not have a specific time of year to measure accurate vitamin D metabolite levels, which can be misleading in conclusions due to the seasonal nature of vitamin D.

Vitamin D Metabolic Pathway Components in Orthopedic Patientes-Systematic Review.

Vitamin D takes part in the functioning of many processes that ensure the homeostasis of the body. In orthopedics, it is indicated as an inseparable element ensuring proper bone growth and functioning, and its deficiencies are indicated in various diseases, mainly in the proper structure and function of the skeleton. In this review, we focus on the most important components of the vitamin D metabolic pathway, in correlation with selected orthopedic conditions. Records were obtained from the PubMed database in a timeline of 2010-2022. The keywords were as follows: vitamin D/cholesterol/vitamin D binding protein/ VDBP/Cytochrome/CYP24A1/CYP 27B1/Vitamin D receptor/VDR/ + diseases (ACL reconstruction, rotator cuff, arthroplasty knee/hip/shoulder). The recent original studies were analyzed, discussed, and the most important data were shown. The vast majority of articles concern the metabolite of vitamin D (25(OH)D), which is measured as a standard in diagnostic laboratories. Even though there is a lot of valuable information in the literature, we believe that the other elements of the vitamin D pathway also deserve attention and suggest their research in correlation with orthopedic disorders to supplement the missing knowledge on this topic.

TPH1 gene polymorphism rs211105 is associated with serotonin and tryptophan hydroxylase 1 concentrations in acute pancreatitis patients.

BACKGROUND: The role of serotonin and its metabolic pathway in proper functioning of the pancreas has not been thoroughly investigated yet in acute pancreatitis (AP) patients. Tryptophan hydroxylase (TPH) as the rate-limiting enzyme of serotonin synthesis has been considered for possible associations in various diseases. Single-nucleotide polymorphisms (SNPs) in TPH genes have been already described in associations with psychiatric and digestive system disorders. This study aimed to explore the association of a rs211105 (T/G) polymorphism in TPH1 gene with tryptophan hydroxylase 1 concentrations in blood serum in a population of acute pancreatitis patients, and to investigate this association with acute pancreatitis susceptibility. RESULTS: Our data showed an association between the presence of the T allele at the position rs211105 (OR = 2.47, 95 % CI 0.94-6.50, p = 0.06) under conditions of a decreased AP incidence. For TT and GT genotypes in the control group, the lowest concentration of TPH was associated with higher serotonin levels (TT: Rs = - 0.415, p = 0.0018; GT: Rs = - 0.457, p = 0.0066), while for the AP group the highest levels of TPH among the TT genotype were associated with lower levels of serotonin (TT: Rs = - 0.749, p < 0.0001, and in the GG genotype higher levels of TPH were associated with higher levels of serotonin (GG: Rs = - 0.738, p = 0.037). CONCLUSIONS: Here, a new insight in the potential role of a selected genetic factor in pancreatitis development was shown. Not only the metabolic pathway of serotonin, but also factors affecting serotonin synthesis may be interesting and important points in acute pancreatitis.

Vitamin D Binding Protein (VDBP) and Its Gene Polymorphisms-The Risk of Malignant Tumors and Other Diseases.

Vitamin D is an important component of the endocrine system that controls calcium homeostasis and bone mineralization. Because of the very short half-life of free serum vitamin D it is stabilized and transported to target tissues by being bound to the vitamin D binding protein (VDBP). The most common polymorphisms: rs4588 and rs7041 in the vitamin D binding protein gene may correlate with differences in vitamin D status in the serum. This review presents data that relate to the presence of genetic variants in the VDBP gene in correlation with certain diseases, mostly concerning cancers (breast, prostate, pancreatic, lung, colorectal, basal cell carcinoma cancer and cutaneous melanoma) or other related diseases (thyroid autoimmunity disorders, obesity, diabetes mellitus, bone metabolism, rheumatoid arthritis, ankylosing spondylitis, asthma, chronic obstructive pulmonary disease, tuberculosis and coronary artery diseases).

[Long-term outcomes after "anatomic" reconstruction of anterior cruciate ligament using central third of patellar tendon]. / Odlegle wyniki "anatomicznej" rekonstrukcji wiezadla krzyzowego przedniego przeszczepem 1/3 srodkowej wiezadla rzepki.

UNLABELLED: Reconstruction of the anterior cruciate ligament (ACL) is one of the most commonly performed procedures in orthopedics. AIM: The aim of the study was to evaluate long-term results of anterior cruciate ligament reconstruction using middle third patellar tendon grafts. MATERIALS AND METHODS: The study included 29 patients with an average 8 years follow - up. All patients underwent arthroscopic reconstruction of ACL using the central third of the patellar tendon ligament. The grafts attachment points were determined by using the Howell pointer. The average patient age was 36 years (range from 16 to 48 years). Postoperative assessment was based on the modified Lysholm score, intensity of the degenerative changes in the Lawrence-Kellgren scale and stabilometric measurments of the knee by Rolimeter and Telos Stress Device. RESULTS: According to the Lyscholm score 21 of 29 patients achieved good and very good result, 7 sufficient, and one case was reported as a bad result. Most of the unsatisfactory results were related with coexisting intraarticular injuries: meniscus and articular cartilage lesions. Outcomes of stabilometric measurments was strongly correlated with subjective results of survey. CONCLUSIONS: In spite evolution of techniques and the introduction of new methods of ACL reconstruction, treatments performed several years ago using the BPTB transtibial technique was possible to obtain good results of treatment.

[Current concepts in surgical treatment of chronic ankle joint instability]. / Aktualne poglAdy na temat leczenia operacyjnego przewlekLej niestabilnoSci stawu skokowego.

Ankle sprain is one of the most common musculoskeletal injuries. Initial treatment of choice in acute injury is conservative and is obtained by immobilization. The goal of such treatment is to heal ruptured capsular-ligamentous complex. However, despite the conservative treatment some patients develop chronic ankle instability as a result of injury. In those cases, surgical anatomical and non-anatomical ligamentous reconstruction is advised. Aim of the study was evaluation of the results obtained with various surgical techniques in view of published data. According to most authors, in patients who experienced chronic ankle instability, surgical technique of anatomical repair is preferred. In cases when anatomical repair might not be undertaken due to technical capabilities, anatomical reconstruction using autoor allografts is advised.

[Instability and other local complications after revision hip replacement in one patient--a case report]. / NiestabiInosc i inne miejscowe powiklania po realoplastyce stawu biodrowego--opis przypadku.

Arthroplasty of the hip is now considered as a safe procedure. The most frequent complications include such terms as pulmonary embolism, myocardial infarction and thrombosis locally at the lower extremities, wound infection, loosening of the implant, periprosthetic fracture, dislocation of the prosthesis or sciatic nerve injury. The work is described for patient operated at the Department of Orthopaedics WIM, in which within 3 years from revision surgery made of loosening of the implants there were multiple complications, including multiple prosthetic dislocations, periprosthetic fracture, nonunion and damage of the stabilizing plate. During this period, the present 73-year old woman were seven treatments, including three closed repositions dislocated prosthesis. Treatment was discontinued in February 2012 stating union at the pseudarthrosis.

[Dislocation after total hip arthroplasty--the problem is still present, reasons and treatments]. / Zwichniecia protez stawu biodrowego--problem nadal aktualny, przyczyny i metody leczenia.

Dislocation after total hip replacement remains a significant problem in orthopedic practice. Despite the use of more modem implants risk of instability is estimated at a few percent for primary treatment and for several procedures. The standard procedure in case of the first dislocation is reduction of the prosthesis in general anesthesia. Further investigation is individual, each case must be thoroughly examined for proper execution of the original surgery and the risk of the next dislocation. Regardless of the subsequent procedures performed a key role in the event of instability prosthesis plays properly conducted rehabilitation and patient education.

[Thermal shrinkage of anterior cruciate ligament--if it works?]. / Termiczne skrócenie wiezadla krzyowego przedniego--czy to dziala?

UNLABELLED: Common used method of treatment of anterior cruciate ligament deficiency is reconstructive surgery. But in cases of incomplete tear of ligament or graft failure one of the treatment options is thermal shrinkage of remain tissue. Although this method is widespread among clinicians, still there are a lot of controversies. Some studies showed good short and midterms outcomes, but others authors described failure of this method in long term observations in form of secondary laxation of the ligament or its spontaneous rupture. The aim of this study was to investigate outcomes of thermal shrinkage of lax, partially torn anterior cruciate ligament or its graft. MATERIALS AND METHODS: In years 2006-2012 was conducted twenty five operations of thermal shrinkage of anterior cruciate ligament or its graft. Full data was obtained from twenty individuals. Anterior stability was assessed by stabilometric side to side tests with Telos Stress Device and Rolimeter. Patients was asked to complete a Lysholm questionnaire. Arthritic changes was assessed by X-Ray scans using Lawrence-Kellgren scale. To made a statistic analysis MS Excel was used. RESULTS: Among twenty individuals failure of treatment was found in eight cases (40%). Remaining twelve patients (60%) at control examination stated that they feel improvement after surgical treatment. Mean Lysholm score was 87 pts and its comparable to other authors investigations. We have to keep in mind that subjective outcome may be affected by associated injuries. CONCLUSIONS: Thermal shrinkage of anterior cruciate ligament may in some cases find a place as a therapeutic option. The effect of shortening the ligament and improvement of the subjective feeling of instability is noticeable in the short term follow-up, but due to reports in the literature, patients require further observation.

Congenital Muscular Torticollis-Current Understanding and Perinatal Risk Factors: A Retrospective Analysis.

INTRODUCTION: Congenital muscular torticollis (CMT) is an asymmetrical head position resulting from structural changes in the sternocleidomastoid (SCM) muscle that occurs early during a child's development or due to perinatal trauma. Children with CMT exhibit a marked imbalance in tension between the SCMs. In a typical clinical picture, an ultrasound scan is performed to reveal characteristic lesions, such as tissue fibrosis or post-traumatic changes. An early diagnosis of CMT in newborns and the implementation of treatment offer the chance of a complete resolution. Torticollis treatment aims to restore the SCM's normal function. Surgical treatment is performed when conservative methods fail to improve the patient's condition. The indications that surgery is needed include a marked shortening of the SCM, persistent fibrosis in the muscle, constant head and facial asymmetry, and rotation or lateral flexion in the cervical spine restricted by >15°. Of all the newborn and infant anomalies, congenital torticollis is the third most common after hip dysplasia and equinovarus deformities. Some authors demonstrate that torticollis coexists with hip dysplasia. AIM: The aim of this study was to collect data on infants referred to paediatric rehabilitation and to identify the risk factors associated with CMT in this group of patients, as well as to assess demographic and clinical characteristics concerning risk factors. MATERIALS AND METHODS: The target population for this retrospective study consisted of 111 infants aged 0 to 5 months born in Poland and diagnosed with and undergoing treatment due to CMT. The following were determined: the relationship between the side of the CMT location and the type of delivery (caesarean section vs. vaginal), the relationship between the body weight at birth and the side of the CMT location, the relationship between the extent of SCM thickening and the type of delivery, and the incidence of CMT depending on the order of delivery. RESULTS AND CONCLUSIONS: The data revealed that CMT is less common in female infants (n = 51, 46%) compared to male (n = 61, 54%) infants, in whom a greater birth weight was reported (p < 005). Seventy-six percent (76%) of the paediatric patients with CMT were the offspring of primipara mothers. More often, children born via vaginal delivery had left-sided torticollis with a more significant broadening of the SCM, as shown on ultrasound scans, than right-sided torticollis. Theories of torticollis development pathophysiology should be deepened and systematised, and further research is needed.

Role of rs193922155 in the etiopathogenesis of osteogenesis imperfecta with description of the phenotype: A case report.

INTRODUCTION: Osteogenesis imperfecta (OI) is a disorder of the connective tissue that mainly causes the bones to become excessively brittle. The vast majority of OI cases are associated with mutations in the genes encoding the I alpha. PATIENT CONCERNS: A 57-year-old woman office worker was admitted because of severe, long-lasting pain in the thoracic spine while bending down. She and her daughter have a history of multiple atraumatic fractures form early childhood. DIAGNOSIS: Both women were pre-diagnosed with OI based on their phenotype. The genetic testing has shown single nucleotide polymorphism (rs193922155) in the gene encoding the collagen type I alpha 1 which until now was only likely pathogenic. INTERVENTIONS: Bone mineral density measurement revealed osteoporosis. The mother was prescribed with Vitamin D3 and calcium supplementation, but the daughter does not take any medication. The mother had vertebroplasty performed because of Th 9-12 vertebral body compression fractures. The cardiovascular diseases, spontaneous hematomas, joint dislocations were excluded. OUTCOMES: For mother postoperative pain reduction was achieved. CONCLUSION: To the best of our knowledge, this is the first publication that confirms the pathogenic effect of this mutation and describes the phenotype.

CYP27B1 Gene Polymorphism rs10877012 in Patients Diagnosed with Colorectal Cancer.

Colorectal cancer (CRC) is the third most commonly occurring cancer worldwide. Intestinal cells are CYP27B1 gene expression sites and, as a consequence, they are capable of converting pro-vitamin D into the active paracrine and autocrine forms. It was demonstrated that rs10877012 polymorphism in the CYP27B1 gene influenced the circulating vitamin D level. This provided a rationale for determining the role that this polymorphism plays in the risk of developing colon cancer. In this study, we investigated the association of rs10877012 (T/G) polymorphism in the CYP27B1 gene with CRC susceptibility. The study population (n = 325) included CRC patients (n = 106) and healthy controls (n = 219). DNA was extracted from peripheral leukocytes and analyzed for the CYP27B1 polymorphism using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. We found an association between the presence of the T allele at the polymorphic site (odds ratio (OR) = 2.94; 95% CI 1.77-4.86; p < 0.0001) and a decreased CRC incidence.

Cemented primary total arthroplasty for acetabular protrusion in patients with rheumatoid arthritis.

BACKGROUND: The degenerative changes in hip joints observed in patients RA are associated with acetabular bone deficiencies. Therefore total hip arthroplasty performed in such patients requires bone grafting to restore the deficiencies. The aim of the study was to assess the long term-term results of primary total hip arthroplasty in patients with RA including an assessment of the usefulness of auto-and allograft in restoring bone deficiencies in acetabular protrusion. MATERIAL AND METHODS: From 1991 to 2001 a total of 156?? [w tekscie jest mowa o 158] patients with rheumatoid arthritis of the hip joint underwent a primary total arthroplasty of the hip joint with acetabular protrusion. The reconstruction of the acetabular bone was achieved by morsellized impaction auto-and allografting. Group I included 26 patients who received autografts and Group II consisted of 10 patients who received allografts. The mean follow-up was 5 years. The hip joint performance was assessed according to the following scales: WOMAC, HHS, and Merle-d'Aubigne-Postel. Graft incorporation was graded according to the Avci criteria. RESULTS: The study revealed that auto-and allografting provides good long-term results. Graft incorporation was reported after 26 months. The radiographs showed porotic bone in grafts in one of the patients; however, there were no signs of loosening in the prosthetic acetabulum. CONCLUSION: Restoration of bone deficiencies in the medial part of the acetabulum in patients with RA by bone grafting is a biological way of reconstruction of the bone and facilitates stable fixation of a polyethylene acetabulum.

Fixation of patellar tendon bone graft in reconstruction of patellar ligaments. Comparison of bioabsorbable and metal interference screws--results of treatment.

BACKGROUND: The central third of the patella tendon is probably the most common ACL graft material because the bone tendon bone (BTB) construct provides robust graft incorporation and a mechanically sufficient substitute. Metal and bioabsorbable interference screws ensure good initial fixation strength of the bone plug. MATERIAL AND METHODS: A total of 78 patients (mean age 29 years) were assigned to a bioabsorbable screw [L-15 Lactosorb] group (Group I of 34 patients) or a metal screw group (Group II of 44 patients). Mean follow-up was 3 years. This study compared the results of ACL reconstruction using bioabsorbable and metal interference screws. Pre- and postoperative assessments included patient history, the Lysholm Knee Scoring Scale and IKDC scores. Range of motion in the knee was measured. Magnetic resonance imaging was performed in 12 patients from each group. RESULTS: Mean Lysholm scores at one year were 94.2 for Group I and 93.5 for Group II. After 3 years mean scores were 95.4 for Group I and 96.2 for Group II. A comparison of IKDC scores showed no statistically significant difference between groups. No radiographic evidence of osteolytic change or bone resorption around the metal screw was observed in Group II, whereas osteolytic changes around bioscrews were observed in 2 patients in Group I. There were no complications related to loss of fixation. The clinical signs of a foreign body reaction were found in one patient. CONCLUSIONS: Bioabsorbale and metal interference screws produce equal clinical results. Complete degradation of a bioabsorbable screw takes 2-3 years.

[History of hip arthroplasty]. / Historia protezoplastyki stawu biodrowego.

The authors present the history of hip prosthesis in treatment of coxarthrosis. Despite eighty years of experience the problem of gaining good and long-term results still exist and is difficult to solve. Even changing the way on cementless stabilization of prosthesis doesn't has result in solving the problem of aseptic loosening of hip arthroplasty. Problems of wear derbies made the producers find new to reduce particulate debris. The future of hip arthroplasty is connected with hip resurfacing. Moreover, the higher number of primary hip plasty the more prosthesis are loosening. The treatment is far more difficult and more expensive.

Unusual Location of Osteoid Osteoma in the Acromion.

We present the clinical case of a 14-year-old female patient complaining of omalgia. A focus of osteoid osteoma located in the acromion was diagnosed. The lesion was removed using the arthroscopic technique, and the symptoms subsided completely. We also present a review of published papers regarding unusual locations of osteoid osteoma.

Ultrasonography versus magnetic resonance imaging in detecting and grading common extensor tendon tear in chronic lateral epicondylitis.

OBJECTIVES: To investigate the diagnostic performance and reliability of ultrasonography (US) in detecting and grading common extensor tendon (CET) tear in patients with chronic lateral epicondylitis (LE), using magnetic resonance imaging (MRI) as the reference standard. MATERIALS AND METHODS: The study comprised fifty-eight chronic LE patients. Each patient underwent US and MRI. CET status was classified as: high-grade tear (≥50% thickness), low-grade tear (<50% thickness), suspected tear (possible but not evident tear), no tear. Additionally, the following dichotomous scale was used: confirmed or unconfirmed CET tear. Relative US parameters (versus MRI) for detecting CET tear included: sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and accuracy. The agreement between US and MRI findings was measured using the weighted Cohen kappa coefficient (κ). RESULTS: US showed moderate agreement with MRI in detecting and grading CET tear (κ = 0.49). Sensitivity, specificity, and accuracy in CET tear detecting by US were 64.52%, 85.19%, and 72.73%, respectively. PPV and NPV of US were 83.33% and 67.65%, respectively. No patient with unconfirmed CET tear on US had high-grade CET tear on MRI. CONCLUSION: Ultrasonography is a valuable imaging modality that can be used as a screening tool to exclude high-grade CET tear in chronic LE patients. Once a tear is evident on US, MRI should be considered to assess precisely the extent of tendon injury.

[Bone grafts (editorial)]. / Przeszczepy kostne.

Bone grafts remains the most effective grafting material because it provides the three elements required for bone regeneration: osteoconduction, osteoinduction and osteogenic cells. Bone grafts are used in the repair of significant fractures, the treatment of skeletal tumors and the reconstruction of failed total arthroplasties. Allografts of bone elicit transplantation immunity and this immunogenicity may cause the higher failure rate of these grafts. In an attempt to reduce the immunogenicity of the graft, allogenic bone has been frozen and freeze-dried. Because of increasing clinical use of bone grafts and the unacceptable failure rate, it would be advantageous to better understand the biological response to grafts in order to better define the parameters necessary for a successful bone grafts.

[Impacted morsellized bone grafting in primary total hip arthroplasty for acetabular protrusion in patients with rheumatoid arthritis]. / Zastosowanie przeszczepów kostnych w protruzji panewki w pierwotnej protezoplastyce u chorych na reumatoidalne zapalenie stawów biodrowych.

UNLABELLED: Between 1991 and 2002, we performed 156 primary total hip replacements in rheumatoid arthritis patients with protrusion acetabulum. The deficient acetabulum was reconstructed with autologous and allogous morsellized bone grafts from the femoral head. MATERIAL AND METHODS: Group 1 were 26 patients with reconstruction acetabulum deficient with autologous morsellized bone grafts and group 2 were 10 patients in witch we use allogous grafts. All patients were reviewed at an average follow-up of 5 years. The function of operated hips was determining according WOMAC, HHS and Merle-d'Aubigne-Postela scores. Incorporation of grafts was assessing according to Avci criteria. RESULTS: We found similarly good and very good results in both groups. Incorporation of allo- and auto- bone grafts was observed after average 26 months. In 1 hip we found porotic grafts but without of loosening of the acetabular component. CONCLUSION: This technique is a good option in cases with protrusion acetabulum due to rheumatoid arthritis.

[Computed tomography assessment of incorporation bone grafts after cemented acetabular revision]. / Wykorzystanie tomografii komputerowej do oceny przebudowy allogenicznych przeszczepów kostnych po protezoplastyce rewizyjnej panewki.

UNLABELLED: The aim of the study was assessment, on the basis of computed tomography (CT) examination, of remodelling of compacted frozen bone sliver grafts used in acetabular revision arthroplasty. MATERIAL AND METHOD: The study involved ten patients treated in the years 1998-2000 for aseptic loosening of hip joint prosthesis elements. Eight women and two men were studied. The mean age of the patients was 69.6 years (from 52 to 74 years). The mean time between primary and revision arthroplasty was 6.8 years. Spiral CT examination was performed 6 weeks and 3, 6, 12, 24, 36 months after the operation. Density measurement was done using ROI (region of interest) function including spongy bone area from 50 to 80 mm2. The studied layer thickness was 3.2 mm. In the examination both hip joints were assessed, accepting the joint not operated on as standard for a given patient. The measurement was done in six zones according to DeLee, Charnley. RESULTS: Progressing reduction of graft density was found in relation to healthy bone density. During the first three months most rapid density reduction was observed in all patients. The lowest density decrease was seen in the postero-superior part of the acetabulum while the highest density reduction occurred in the lower part. Trabeculation change was observed from that resembling compact bony tissue to that corresponding to spongy tissue. In two patients after six months a significant graft density reduction occurred both in the lower and upper parts of the acetabulum. In these patients acetabular loosening was confirmed, requiring reoperation. CONCLUSIONS: CT examination of bone density makes possible quantitative assessment of bone graft remodelling and qualitative assessment imaging the structure of the grafts. The non-invasive method of CT examination of bone graft density allows for prognostication as to stability of the seated acetabulum.