ABSTRACT
BACKGROUND: Thalassemia is an inherited autosomal recessive blood disorder causing abnormal formation of hemoglobin, known as a syndrome of anemia with microcytic erythrocytes. It is the most common genetic disorder worldwide, with a high prevalence among individuals of Mediterranean descent. The state of homozygosity of the beta-globin mutated gene is known as beta-thalassemia major, and these patients require regular blood transfusions and iron chelation therapy for survival. The rapid loss of red blood cells among affected individuals activates compensatory mechanisms of excessive medullary and extramedullary hematopoiesis, leading to severe skeletal bone deformity. CASE PRESENTATION: We present the case of a 39-year-old Bedouin male, diagnosed with beta-thalassemia major at infancy, with diagnosed homozygosity for the intervening sequence 2-1 (guanine > adenine) mutation. Since early infancy, he started receiving blood transfusions with a gradual increase in treatment frequency through adulthood due to the severe clinical progression of the disease. He was referred to the oral and maxillofacial surgery department at Galilee Medical Center to evaluate his facial deformity in the upper jaw and treat his severe periodontal disease. The patient presented maxillary overgrowth, and severe dental deformity resulted in progressive disfigurement and difficulty chewing, swallowing, and speaking. To address the challenge of surgical treatment, we utilized the advantage of three-dimensional planning and printing technology to simulate the optimal result. Resection of maxillary bone overgrowth and insertion of custom-made subperiosteal implants were followed by rehabilitation of both jaws to the patients' satisfaction at 3-year follow-up. CONCLUSIONS: The ongoing implementation of state-of-the-art technologies such as virtual reality and three-dimensional printing has become a prominent component in surgical toolsets. Comprehensive case simulation and accurate planning before surgery will improve surgical results and patient satisfaction. This approach is highly advocated when approaching a case of rare maxillofacial deformity associated with either genetic or orphan diseases.
Subject(s)
beta-Thalassemia , Adult , Chelation Therapy , Humans , Male , Mutation , Printing, Three-Dimensional , Technology , beta-Thalassemia/complications , beta-Thalassemia/geneticsABSTRACT
OBJECTIVE: Salivary gland impairment is a major problem that can result in hyposalivation and a decrease in quality of life. Causes for mouth dryness can be grossly classified into three major groups: iatrogenic, immunogenic, and metabolic. At present, insufficient therapies exist to ease morbidity in this growing number of affected individuals. A need for new products to relieve oral dryness is mandatory. The aim of this study was to evaluate a mucoadhesive lipid-based bioerodable tablet as a novel device to decrease signs and symptoms associated with mouth dryness. METHOD AND MATERIALS: Twenty xerostomic patients were divided into two groups. In group 1, the mucoadhesive tablet was applied to the hard palate, while in group 2, Biotène mouthwash was applied and served as a control. Sialometry measurements, as well as a questionnaire assessing mouth dryness, were obtained before and after treatment. RESULTS: Application of the mucoadhesive tablets resulted in a significant reduction in the sensation of the mouth dryness (P = .016) compared to Biotène. Moreover, a 1.5-fold increase in unstimulated whole saliva flow was obtained after 30 minutes in the treatment group. CONCLUSION: A lipid-based mucoadhesive tablet has a beneficial role in reducing the sensation of dryness in patients with xerostomia.