CHARGE syndrome: a review of the immunological aspects

CHARGE syndrome is caused by a dominant variant in the CHD7 gene. Multiple organ systems can be affected because of haploinsufficiency of CHD7 during embryonic development. CHARGE syndrome shares many clinical features with the 22q11.2 deletion syndrome. Immunological abnormalities have been described, but are generally given little attention in studies on CHARGE syndrome. However, structured information on immunological abnormalities in CHARGE patients is necessary to develop optimal guidelines for diagnosis, treatment and follow-up in these patients. Here, we provide an overview of the current literature on immunological abnormalities in CHARGE syndrome. We also explore immunological abnormalities in comparable multiple congenital anomaly syndromes to identify common immunological phenotypes and genetic pathways that might regulate the immune system. Finally, we aim to identify gaps in our knowledge on the immunological aspects in CHARGE syndrome that need further study.     

Laparoscopic adrenalectomy for functioning and non-functioning adrenal tumors: Analysis of surgical aspects based on histological types

BACKGROUND: The aim of this study was to evaluate whether hormonal functions of the tumor influence the operative results of laparoscopic adrenalectomy, and to analyse the clinical outcomes in patients with various hormonally active adrenal tumors. METHODS: Clinical and pathological records of 68 patients were reviewed. The average age of patients was 40 years (range 20-75); 39 were women and 29 men. For the comparison, patients were divided into the non-functioning tumor group (n = 22) and the functioning tumor group (n = 46). RESULTS: All laparoscopic adrenalectomies were finished successfully, and no open surgery was necessary. The median operative time and blood loss in the two groups were similar; however, in subgroup analysis, operative time for pheochromocytoma was significantly longer than that for non-functioning tumor (P = 0.044). No difference was noted in intra- and postoperative data between the groups. Of the 22 patients with aldosteronoma, 18 (81.8%) became normotensive and no longer required postoperative blood pressure medications. Adrenalectomy led to an overall reduction in the median number of antihypertensive medications (P < 0.001). All patients with Cushing adenoma had resolution or improvement of the signs and symptoms during follow-up periods. There was no evidence of biochemical or clinical recurrence in any patient with pheochromocytoma. CONCLUSION: The results of this retrospective review document that laparoscopic adrenalectomy is a safe and effective treatment for functioning as well as non-functioning adrenal tumors, although endocrinologic features may play a significant role.     

Abfraction: separating fact from fiction

Non-carious cervical lesions involve loss of hard tissue and, in some instances, restorative material at the cervical third of the crown and subjacent root surface, through processes unrelated to caries. These non-carious processes may include abrasion, corrosion and possibly abfraction, acting alone or in combination. Abfraction is thought to take place when excessive cyclic, non-axial tooth loading leads to cusp flexure and stress concentration in the vulnerable cervical region of teeth. Such stress is then believed to directly or indirectly contribute to the loss of cervical tooth substance. This article critically reviews the literature for and against the concept of abfraction.
Although there is theoretical evidence in support of abfraction, predominantly from finite element analysis studies, caution is advised when interpreting results of these studies because of their limitations. In fact, there is only a small amount of experimental evidence for abfraction. Clinical studies have shown associations between abfraction lesions, bruxism and occlusal factors, such as premature contacts and wear facets, but these investigations do not confirm causal relationships. Importantly, abfraction lesions have not been reported in pre-contemporary populations.
It is important that oral health professionals understand that abfraction is still a theoretical concept, as it is not backed up by appropriate clinical evidence. It is recommended that destructive, irreversible treatments aimed at treating so-called abfraction lesions, such as occlusal adjustment, be avoided.     

Evolution of four BK virus subtypes

BK viruses (BKV) comprise four subtypes that are distinguishable by serological and molecular methods with the latter indicating up to four subgroups within subtype I. In this study, the phylogeny of all BKV subtypes was analyzed. Phylogenetic analyses of the viral structural protein VP1, concatenated sequences including the T-Ag, t-Ag, VP1 and VP2 genes and the entire coding region of BKV, each employing several tree inference methods, consistently revealed seven strongly supported clades that correlate with BKV subtypes and subgroups. In general, subtype II and III viruses were found to be sister groups, the genetic distances between which were significantly lower than those between either and the other BKV subtypes. Two benchmarks of human evolution (emergence of modern humans, 200,000 years ago; out-of-Africa migration, 100,000 years ago) were assumed for the internal calibration of BKV evolution. Utilization of either calibration point resulted in the diversification of most BKV subgroups coinciding with human radiation less than 50,000 years ago. Another approach, external calibration by linking BKV divergence to the evolution of mammals, was rejected as it advances BKV divergence prior to the emergence of modern humans.     

Complications of local anaesthesia. An observational study

Abstract: Objectives: Local anaesthesia is increasingly used by dental hygienists. As little is known about the incidence of adverse effects during and after the administration of local anaesthetics, we evaluated side‐effects associated with local anaesthesia. Methods: A prospective observational study was conducted using standard criteria among a group of 103 patients receiving mandibular block anaesthesia. Results: Physical reactions like clenching fists (14.5%), moaning (12.6%) and turning pale (7.8%) were frequently observed. Patients (3.8%) showed a painful reaction because of needle contact with a nerve or the periosteum. Systemic complications were not observed. After the injection, 41.7% said they felt tense during the administration; 4.9% of the patients reported swallowing problems and 3.9% a tachycardia. Conclusions: These results suggest that administration of local anaesthesia has a small risk of adverse events. Complications, if they occur, seem minor and transient in nature.