Novel insight into etiology, diagnosis and management of primary adrenal insufficiency

Primary adrenal insufficiency (PAI) is a rare condition in childhood which is either inherited (mostly) or acquired. It is characterized by glucocorticoid and maybe mineralocorticoid deficiency. The most common form in children is 21-hydroxylase deficiency, which belongs to the steroid biosynthetic defects causing PAI. Newer forms of complex defects of steroid biosynthesis are P450 oxidoreductase deficiency and (apparent) cortisone reductase deficiency. Other forms of PAI include metabolic disorders, autoimmune disorders and adrenal dysgenesis, e.g. the IMAGe syndrome, for which the underlying genetic defect has been recently identified. Newer work has also expanded the genetic causes underlying isolated, familial glucocorticoid deficiency (FGD). Mild mutations of CYP11A1 or StAR have been identified in patients with FGD. MCM4 mutations were found in a variant of FGD in an Irish travelling community manifesting with PAI, short stature, microcephaly and recurrent infections. Finally, mutations in genes involved in the detoxification of reactive oxygen species were identified in patients with unsolved FGD. Most mutations were found in the enzyme nicotinamide nucleotide transhydrogenase, which uses the mitochondrial proton pump gradient to produce NADPH. NADPH is essential in maintaining high levels of reduced forms of antioxidant enzymes for the reduction of hydrogen peroxide. Similarly, mutations in the gene for TXNRD2 involved in this system were found in FGD patients, suggesting that the adrenal cortex is particularly susceptible to oxidative stress.

Etiology and management of recurrent parotid pleomorphic adenoma

The objective of this review study was to encompass the relevant literature and current best practice options for this challenging, sometimes incurable problem. The source of the data was Ovid MEDLINE from 1946 to 2014. Review methods consisted of articles with clinical correlates. The most important cause of recurrence is enucleation with rupture and incomplete tumor excision at operation. Incomplete pseudocapsule, extracapsular extension, pseudopods of pleomorphic adenoma tissue, and satellite pleomorphic beyond the pseudocapsule are also likely linked to recurrent pleomorphic adenoma. Most recurrent pleomorphic adenoma are multinodular. Magnetic resonance imaging is the imaging study of choice for recurrent pleomorphic adenoma. Nerve integrity monitoring may reduce morbidity for recurrent pleomorphic adenoma. Treatment of recurrent pleomorphic adenoma must be individualized. Total parotidectomy, given the multicentricity of recurrent pleomorphic adenoma, is appropriate in many patients, but may be inadequate to control recurrent pleomorphic. There is accumulating evidence from retrospective series that postoperative radiation therapy results in significantly better local control. LEVEL OF EVIDENCE NA Laryngoscope, 2014.

Consensus report of the European Federation of Conservative Dentistry: erosive tooth wear-diagnosis and management

OBJECTIVE Due to an increased focus on erosive tooth wear (ETW), the European Federation of Conservative Dentistry (EFCD) considered ETW as a relevant topic for generating this consensus report. MATERIALS AND METHODS This report is based on a compilation of the scientific literature, an expert conference, and the approval by the General Assembly of EFCD. RESULTS ETW is a chemical-mechanical process resulting in a cumulative loss of hard dental tissue not caused by bacteria, and it is characterized by loss of the natural surface morphology and contour of the teeth. A suitable index for classification of ETW is the basic erosive wear examination (BEWE). Regarding the etiology, patient-related factors include the pre-disposition to erosion, reflux, vomiting, drinking and eating habits, as well as medications and dietary supplements. Nutritional factors relate to the composition of foods and beverages, e.g., with low pH and high buffer capacity (major risk factors), and calcium concentration (major protective factor). Occupational factors are exposition of workers to acidic liquids or vapors. Preventive management of ETW aims at reducing or stopping the progression of the lesions. Restorative management aims at reducing symptoms of pain and dentine hypersensitivity, or to restore esthetic and function, but it should only be used in conjunction with preventive strategies. CONCLUSIONS Effective management of ETW includes screening for early signs of ETW and evaluating all etiological factors. CLINICAL RELEVANCE ETW is a clinical condition, which calls for the increased attention of the dental community and is a challenge for the cooperation with other medical specialities.

Prevalence and management of familial hypercholesterolaemia in patients with acute coronary syndromes.

AIMS We aimed to assess the prevalence and management of clinical familial hypercholesterolaemia (FH) among patients with acute coronary syndrome (ACS). METHODS AND RESULTS We studied 4778 patients with ACS from a multi-centre cohort study in Switzerland. Based on personal and familial history of premature cardiovascular disease and LDL-cholesterol levels, two validated algorithms for diagnosis of clinical FH were used: the Dutch Lipid Clinic Network algorithm to assess possible (score 3-5 points) or probable/definite FH (>5 points), and the Simon Broome Register algorithm to assess possible FH. At the time of hospitalization for ACS, 1.6% had probable/definite FH [95% confidence interval (CI) 1.3-2.0%, n = 78] and 17.8% possible FH (95% CI 16.8-18.9%, n = 852), respectively, according to the Dutch Lipid Clinic algorithm. The Simon Broome algorithm identified 5.4% (95% CI 4.8-6.1%, n = 259) patients with possible FH. Among 1451 young patients with premature ACS, the Dutch Lipid Clinic algorithm identified 70 (4.8%, 95% CI 3.8-6.1%) patients with probable/definite FH, and 684 (47.1%, 95% CI 44.6-49.7%) patients had possible FH. Excluding patients with secondary causes of dyslipidaemia such as alcohol consumption, acute renal failure, or hyperglycaemia did not change prevalence. One year after ACS, among 69 survivors with probable/definite FH and available follow-up information, 64.7% were using high-dose statins, 69.0% had decreased LDL-cholesterol from at least 50, and 4.6% had LDL-cholesterol ≤1.8 mmol/L. CONCLUSION A phenotypic diagnosis of possible FH is common in patients hospitalized with ACS, particularly among those with premature ACS. Optimizing long-term lipid treatment of patients with FH after ACS is required.

Unearthing the roots of degradation of Quercus pyrenaica coppices: A root-to-shoot imbalance caused by historical management?

Slow growth, branch dieback and scarce acorn yield are visible symptoms of decay in abandoned Quercus pyrenaica coppices. A hypothetical root-to-shoot (R:S) imbalance provoked by historical coppicing is investigated as the underlying driver of stand degradation. After stem genotyping, 12 stems belonging to two clones covering 81 and 16 m2 were harvested and excavated to measure above- and below-ground biomass and nonstructural carbohydrate (NSC) pools. To study root system functionality, root connections and root longevity were assessed by radiocarbon analysis. Seasonality of NSC was monitored on five additional clones. NSC pools, R:S biomass ratio and fine roots-to-foliage ratio were higher in the large clone, whose centennial root system, estimated to be 550 years old, maintained large amounts of sapwood (51.8%) for NSC storage. 248 root connections were observed within the large clone, whereas the small clone showed comparatively simpler root structure (26 connections). NSC concentrations were higher in spring (before bud burst) and autumn (before leaf fall), and lower in summer (after complete leaf expansion); they were always higher in roots than in stems or twigs. The persistence of massive and highly inter-connected root systems after coppicing may lead to increasing R:S biomass ratios and root NSC pools over time. We highlight the need of surveying belowground organs to understand aboveground dynamics of Q. pyrenaica, and suggest that enhanced belowground NSC storage and consumption reflect a trade-off between clonal vegetative resilience and aboveground performance.

Long-term forest fire ecology and dynamics in southern Switzerland

1 Pollen and charcoal analysis at two lakes in southern Switzerland revealed that fire has had a prominent role in changing the woodland composition of this area for more than 7000 years. 2 The sediment of Lago di Origlio for the period between 5100 and 3100 bc cal. was sampled continuously with a time interval of about 10 years. Peaks of charcoal particles were significantly correlated with repeated declines in pollen of Abies, Hedera, Tilia, Ulmus, Fraxinus excelsior t., Fagus and Vitis and with increases in Alnus glutinosa t., shrubs (e.g. Corylus, Salix and Sambucus nigra t.) and several herbaceous species. The final disappearance of the lowland Abies alba stands at around 3150 bc cal. may be an example of a fire-caused local extinction of a fire-intolerant species. 3 Forest fires tended to diminish pollen diversity. The charcoal peaks were preceded by pollen types indicating human activity. Charcoal minima occurred during periods of cold humid climate, when fire susceptibility would be reduced. 4 An increase of forest fires at about 2100 bc cal. severely reduced the remaining fire-sensitive plants: the mixed-oak forest was replaced by a fire-tolerant alder–oak forest. The very strong increase of charcoal influx, and the marked presence of anthropogenic indicators, point to principally anthropogenic causes. 5 We suggest that without anthropogenic disturbances Abies alba would still form lowland forests together with various deciduous broadleaved tree taxa.