Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.

BACKGROUND: This manuscript provides a summary of the current evidence to support the criteria for diagnosing a child or adult with hypophosphatasia (HPP). The diagnosis of HPP is made on the basis of integrating clinical features, laboratory profile, radiographic features of the condition, and DNA analysis identifying the presence of a pathogenic variant of the tissue nonspecific alkaline phosphatase gene (ALPL). Often, the diagnosis of HPP is significantly delayed in both adults and children, and updated diagnostic criteria are required to keep pace with our evolving understanding regarding the relationship between ALPL genotype and associated HPP clinical features. METHODS: An International Working Group (IWG) on HPP was formed, comprised of a multidisciplinary team of experts from Europe and North America with expertise in the diagnosis and management of patients with HPP. Methodologists (Romina Brignardello-Petersen and Gordon Guyatt) and their team supported the IWG and conducted systematic reviews following the GRADE methodology, and this provided the basis for the recommendations. RESULTS: The IWG completed systematic reviews of the literature, including case reports and expert opinion papers describing the phenotype of patients with HPP. The published data are largely retrospective and include a relatively small number of patients with this rare condition. It is anticipated that further knowledge will lead to improvement in the quality of genotype-phenotype reporting in this condition. CONCLUSION: Following consensus meetings, agreement was reached regarding the major and minor criteria that can assist in establishing a clinical diagnosis of HPP in adults and children.

[From myxomas of the skin to LVAD implantation : A 28-year-old female patient with Carney complex]. / Von Hautmyxomen zur LVAD-Implantation : Eine 28-jährige Patientin mit Carney-Komplex.

Multiple skin lesions, endocrine dysfunction and cardiac myxomas are characteristic symptoms of Carney complex. This case report gives an overview about the major and minor criteria of Carney complex and presents the course of a female patient who developed severe cardiac insufficiency with multiple organ failure because of recurring heart operations leading to implantation of a left ventricular assist device (LVAD).

[Gridded Emission Inventories of Major Criteria Air Pollutants and Source Contributions in Lan-Bai Metropolitan Area, Northwest China].

Lan-Bai Metropolitan Area in Gansu province is an important heavy-industry base with the highest level of total air pollutant emissions in Northwest China. It is significant to study the high-resolution pollutant emission inventory to forecast regional air quality and to simulate pollutant emission reduction, as well as provide early warnings and forecasts, and to control air pollution. Taking Lanzhou and Baiyin as the main research areas, this study established the gridded emission inventories of seven major criteria air pollutants in the Lan-Bai Metropolitan Area based on emission data and statistical yearbooks of 2015-2016. The spatial pollution characteristics and emission source contributions were also studied. The results showed that the total annual emissions of seven major criteria air pollutants in the Lan-Bai Metropolitan Area were as followings:NOx 2.22×105 t, NH3 4.53×104t, VOCs 7.74×104t, CO 5.62×105 t, PM10 4.95×105 t, PM2.5 1.91×105 t, and SO2 1.37×105 t. Among them, annual CO emissions were the highest, while the annual emissions of NH3 were the lowest. The comparison of this gridded emission inventories with the Peking and Tsinghua University's MEIC inventories, found that the consistency of the three inventories for traffic source was relatively high, but for the total emissions and industrial source emissions of CO, a 30%-40% difference was found when compared with emissions in the Peking and Tsinghua University's inventories. The main differences were from the collected emission factors and the different resolution and years for collected data. The industrial non-combustion process sources, accounting for the largest proportion, were mainly concentrated in urban areas for the other six major criteria air pollutants except for NH3. The main contributing sources of NH3 were from the use of nitrogen fertilizers and livestock emissions, so its spatial pollution distribution was mainly affected by farmland distribution and other factors. It can be concluded that countermeasures, such as controlling industrial non-combustion process sources, integrating high-quality and high-efficiency power supply, using clean energy, strict dust emission control on construction sites and industrial production facilities, as well as urban greening could effectively reduce the emissions of six major criteria air pollutants including NOx, VOCs, CO, PM10, PM2.5, and SO2 in the Lan-Bai Metropolitan Area. The reduction of NH3 emission mainly depends on reducing the use of nitrogen fertilizer and controlling livestock emissions in the rural regions of Lan-Bai Metropolitan Area. This paper also used Monte Carlo uncertainty analysis to evaluate uncertainty in the gridded emission inventories, in which the maximum uncertainty was -31%-30% for NH3, the uncertainty of CO at -18%-16% was minimal. Therefore, the overall credibility was high for the established gridded emission inventories in this study.

Ischemic and Bleeding Outcomes According to the Academic Research Consortium High Bleeding Risk Criteria in All Comers Treated by Percutaneous Coronary Interventions.

Background: The Academic Research Consortium have identified a set of major and minor risk factors in order to standardize the definition of a High Bleeding Risk (ACR-HBR). Aims: The aim of this study is to stratify the bleeding risk in patients included in the Cardio-Fribourg registry, according to the Academic Research Consortium for High Bleeding Risk (ACR-HBR) definition, and to report ischemic and hemorrhagic events at 2-year of clinical follow-up. Methods: Between 2015 and 2017, consecutive patients undergoing percutaneous coronary intervention were prospectively included in the Cardio-Fribourg registry. Patients were considered high (HBR) or low (LBR) bleeding risk depending on the ARC-HBR definition. Primary endpoints were hierarchical major bleeding events as defined by the Bleeding Academic Research Consortium (BARC) grade 3-5, and ARC patient-oriented major adverse cardiac events (POCE) at 2-year follow-up. Results: Follow-up was complete in 1,080 patients. There were 354 patients in the HBR group (32.7%) and 726 patients in the low-bleeding risk (LBR) group (67.2%). At 2-year follow-up, cumulative BARC 3-5 bleedings were higher in HBR (10.5%) compared to LBR patients (1.5%, p < 0.01) and the impact of HBR risk factors was incremental. At 2-year follow-up, POCE were more frequent in HBR (27.4%) compared to LBR group (18.2%, <0.01). Overall mortality was higher in HBR (14.0%) vs. LBR (2.9%, p < 0.01). Conclusions: ARC-HBR criteria appropriately identified a population at a higher risk of bleeding after percutaneous coronary intervention. An increased risk of bleeding is also associated with an increased risk of ischemic events at 2-year follow-up.