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).

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.

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. 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). 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. 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.

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.

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.

Enthesopathy-associated pain does not only occur in athletes but also in persons of average daily activity levels. Repetitive microtrauma within the pes anserinus may lead to chronic inflammation and later result in development of degenerative changes in this region. It is commonly believed that this condition is caused by chronic bursitis of the pes anserinus. However, imaging studies have confirmed that as the underlying cause of complaints only in a small percentage of cases.