Lesch Nyhan syndrome: A novel complex mutation in a Tunisian child

Lesch Nyhan syndrome (LNS) is an X-linked recessive disorder due to complete deficiency of the hypoxanthine–guanine phosphoribosyltransferase (HPRT) enzyme. Defect of the enzymatic activity is related to mutations of the HPRT1 gene. The disorder severity is due to neurological features and renal complications. Up to now, more than 300 mutations have been reported. We report on a Tunisian child with a severe phenotype due to a novel identified complex mutation.     

16‐Year follow‐up of an avulsed maxillary central incisor after replantation following 10‐h storage: An unusual case

Tooth avulsion is a type of dental injury defined as the complete displacement of a tooth out of the alveolar socket, and the lack of prompt treatment measures can result in the loss of function, poor quality of life, and psychological and social problems. However, several factors may not permit the immediate replantation of an avulsed tooth; therefore, delayed replantation has emerged as an alternative to meet the esthetic, functional, and psychological demands of patients. Here it was described that the successful replantation of an avulsed maxillary central incisor in a 9‐year‐old boy who presented at the clinic with the tooth stored in unfavorable conditions as dry and then in olive oil‐milk mixture almost 10 h after the event. The tooth has remained in its socket healthy for 16 years after treatment. The patient was satisfied with both esthetics and function.     

Serum copper and zinc concentrations in patients with chronic hepatitis C

The aim of this study was to measure the alterations in serum trace elements, including zinc and copper in patients with chronic hepatitis C and to compare them with the results of healthy individuals. Seventeen patients with chronic hepatitis C and 17 healthy individuals were included in this study. Serum zinc and cooper concentrations were measured by using atomic absorption spectrophotometer of patients with chronic hepatitis C and the results were statistically compared with those of healthy individuals. Serum zinc concentrations were 105.6+/-22.8 microg/dl in patients with chronic hepatitis C and 94.41+/-19 microg/dl in healthy controls, respectively. Serum copper concentrations were 103.17+/-20.8 microg/dl in patients with chronic hepatitis C and 90.8+/-14.3 microg/dl in healthy subjects, respectively. Serum zinc and copper concentrations were not found statistically different in patients with chronic hepatitis C compared with those of healthy individuals (p>0.05). In conclusion, serum trace element concentrations did not show statistical alterations in patients with chronic hepatitis C compared to healthy subjects.     

TNF-α Blockade Efficiently Reduced Severe Intestinal Damage in Necrotizing Enterocolitis

Objectives: To ascertain the beneficial effects of infliximab an inhibitor of tumor necrosis factor alpha (TNF-α) on the development of NEC in an experimental NEC rat model. Material and Methods: Thirty newborn Sprague-Dawley rats were randomly divided into three groups as NEC, NEC+ infliximab, and control. NEC was induced by enteral formula feeding, exposure to hypoxia-hyperoxia and cold stress. Pups in the NEC+ infliximab group were administered infliximab at a dose of 10 mg/kg daily by intraperitoneal route from the first day until the end of the study. All pups were sacrificed on the 5th day. Proximal colon and ileum were excised for histopathologic, immunohistochemical (TUNEL and caspase-3), and biochemical evaluation, including, total antioxidant status (TAS), total oxidant status (TOS), malonaldehyde (MDA), and myeloperoxdase (MPO) and TNF-α activities. Results: We observed better clinical sickness scores, weight gain, and survival rate in the NEC+ infliximab group compared to the NEC group (p < .05). Histopathological and apoptosis examination (TUNEL and immunohistochemical evaluation for caspase-3) revealed lower damage in the NEC+ infliximab group compared to the damage in the NEC group (p < .01). Tissue MDA, MPO, TNF-α levels, and TOS were significantly decreased in the NEC+infliximab group, whereas TAS was significantly increased in the NEC + infliximab group (p < .01). Conclusion: TNF-α blockade with infliximab efficiently reduced the intestinal injury and preserve the intestinal tissues from severe intestinal damage by its complex mechanisms on NEC. Therefore, it may be an alternative option for the treatment of NEC.     

Diffuse soft tissue and vascular calcification in systemic lupus erythematosus with chronic kidney disease

The systemic disorder of mineral and bone metabolism which is related to chronic kidney disease (CKD) is called mineral and bone disorder (MBD). Calcifications related to CKD-MBD may occur in ophthalmic tissue, arterial walls, subcutaneous and periarticular soft tissues and organs. The vascular calcifications are the most important causes of mortality and morbidity in CKD. Here, we present a case of systemic lupus erythematosus with early and disseminated calcifications of vascular and periarticular soft tissues related to CKD-MBD.