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Objectives: Osteoporosis (OP) is a usual disease with a possible genetic predisposition. IL-23 plays a role in physiological bone remodeling and regulates the activity of cells of the bone either directly or indirectly on bone-resorbing osteoclasts as well as on bone-forming osteoblasts. Recent animal and human trials have revealed the main pro-osteoclastogenic activities for the IL-23 pathway. We examined nine single nucleotide polymorphisms (SNPs) in the interleukin-23 receptor (IL-23R) in 100 OP patients and gender- and age-matched 96 healthy volunteers. The most analyzed SNPs in the recent rheumatology literature were selected. Methods: In addition to gene polymorphisms several laboratory parameters (osteocalcin, parathormone, vitamine D) were investigated. Independent Samples t-test and Mann-Whitney-U test were used to compare several demographic and clinical parameters between the groups. P - value < 0.05 was accepted to be statistically significant. Results: Having the heterozygous GA genotype of IL-23R rs1004819 and the heterozygous CT genotype of Il-23R rs7530511 significantly increase the risk of developing OP (adjusted OR: 3.51, p = 0.031 and OR: 2.41, p = 0.027, respectively). The wild homozygous GG genotype of Il-23R rs11209032 had higher osteocalcin levels compared with the mutant homozygous AA genotype (18.75 ± 9.76, p = 0.009). Conclusions: Our findings suggest that several IL-23R gene polymorphisms are seen more often in osteoporosis patients than in healthy volunteers. In addition, some SNPs were related to higher serum osteocalcin levels. [ABSTRACT FROM AUTHOR]

This article discusses a case study of a 2-year-old female patient from Turkey with Mal de Meleda (MDM), a rare form of palmoplantar keratoderma. The patient presented with hyperkeratotic plaques on her palms and soles, which gradually extended to the dorsum of her hands and feet. The article describes the clinical characteristics of MDM, including hyperhidrosis, perioral erythema, and nail dystrophies. A novel mutation in the SLURP1 gene, which is associated with MDM, was identified in the patient. The article emphasizes the need for genetic counseling for affected individuals and their families. [Extracted from the article]

Bietti crystalline dystrophy (BCD) is a rare, genetically determined chorioretinal dystrophy presenting with intraretinal crystalline deposits and varying degrees of progressive chorioretinal atrophy commencing at the posterior pole. In some cases, there can be concomitant corneal crystals noted first in the superior or inferior limbus. CYP4V2 gene, a member of the cytochrome P450 family is responsible for the disease and more than 100 mutations have been defined thus far. However, a genotype–phenotype correlation has not been established yet. Visual impairment commonly occurs between the second and third decades of life. By the fifth or sixth decade of life, vision loss can become so severe that the patient may potentially become legally blind. Multitudes of multimodal imaging modalities can be utilized to demonstrate the clinical features, course, and complications of the disease. This present review aims to reiterate the clinical features of BCD, update the clinical perspectives with the help of multimodal imaging techniques, and overview its genetic background with future therapeutic approaches. [ABSTRACT FROM AUTHOR]

Objective: The Williams-Beuren Syndrome is a rare genetic disorder. Congenital heart disease is common in these patients and the most important cause of mortality and morbidity. The cardiovascular findings and clinical follow-up of patients with Williams sydrome were evaluated in this study. Material and Methods: Between January 2011 and November 2017, 12 subjects with the Williams-Beuren syndrome admitted to our Department of Pediatric Cardiology were evaluated. Results: Congenital heart diseases were presented in 83% of the patients. The most common cardiac anomaly was pulmonary stenosis. There was pulmonary stenosis in 60% of our patients, aortic stenosis in 50%, ventricular septal defect in 30%, and atrial septal defect in 20%. There was hypertrophic cardiomyopathy in one case, aortic coarctation in one case and mitral valve prolapse in one case. As regards an additional abnormality, there was hypothyroidism in 50%, idiopathic hypercalcemia in 50%, nephrolithiasis in 16%, and hernias in 34% of the patients with Williams-Beuren syndrome. Conclusion: Congenital heart diseases are common in patients with the Williams-Beuren syndrome. Even when there are no clinical signs and symptoms, cardiac evaluation of patients with the Williams-Beuren syndrome provides an early diagnosis and prevents the development of irreversible complications that may occur in the future. These patients should be monitored at regular intervals in terms of the associated multisystem disorders. [ABSTRACT FROM AUTHOR]

Neonatal thrombosis is a serious event that can cause mortality or severe morbidity. Although catheters are the most common cause of neonatal thrombosis, spontaneous events can also occur. Arterial thrombosis is very rare and accounts for approximately half of all thrombotic events in neonates. Genetic prothrombotic risk factors may affect the occurence of neonatal thrombosis. In this report, a case of left brachial, radial, and ulnar arterial thrombosis associated with methylene-tetrahydrofolate reductase (MTHFR) gene C677T and A1298C polymorphism heterozygosity is presented. Plasma homocysteine level and other prothrombotic components were normal. Standard heparin, aspirin, vitamin B12, B6 and folic acid were initiated for treatment. However, the left arm of the patient was amputated at the shoulder because its capillary stream could not be observed. We suggest that MTHFR gene C677T and A1298C polymorphism heterozygosity might be investigated in neonates with congenital arterial thrombosis in spite of normal serum homocysteine levels. [ABSTRACT FROM AUTHOR]