A 22q11.2-microdeletiós szindróma klinikai jellemzői

Összefoglaló. Bevezetés: A sokszínű tünetspektrummal jellemezhető DiGeorge-szindróma leggyakoribb oka a 22q11.2-microdeletio; incidenciája 1/4000–6000. Célkitűzés: A DiGeorge-szindrómára gyanús hazai betegcsoport 22q11.2-microdeletióval társult tüneteinek/panaszainak részletes feltérképezése, a betegség incidenciájának becslése és egy magyarországi 22q11.2-microdeletiós szindróma regiszter létrehozása. Módszer: 2005 és 2019 között a Semmelweis Egyetem II. Gyermekgyógyászati Klinikájára DiGeorge-szindróma gyanújával beutalt és a Veleszületett Rendellenességek Országos Nyilvántartása által regisztrált DiGeorge-szindrómás betegek adatait dolgoztuk fel. A fenotípusjegyeket a Humán Fenotípus Ontológia kódrendszer alapján határoztuk meg. Eredmények: A vizsgálatba 114, igazolt DiGeorge-szindrómás és 113, FISH-vizsgálattal microdeletiót nem hordozó, de klinikailag a DiGeorge-szindróma tüneteit mutató beteget vontunk be. A diagnózis felállításakor a betegek átlagéletkora 5,88 (± 9,66 SD) év volt, eddig a betegek 54,9%-a legalább egy szívműtéten átesett. A betegek leggyakoribb tünetei a kamrai sövényhiány, a mélyen ülő fülek, a gótikus szájpad, a motoros fejlődési elmaradás és a visszatérő fertőzések voltak. Megbeszélés: A DiGeorge-szindróma becsült incidenciája hazánkban 1/12 500, közöttük magas a többszörösen veszélyeztetett újszülöttek és a műtéti korrekcióra szorulók aránya. A diagnózis hazánkban 2–3 évvel korábban történik a nemzetközi átlaghoz viszonyítva. Következtetés: A létrehozott regiszterünk alapján Magyarországon a kórkép aluldiagnosztizált. Minden conotruncalis szívfejlődési rendellenesség vagy jelentős kamrai sövényhiány esetén citogenetikai vizsgálat javasolt a DiGeorge-szindróma felmerülő gyanúja miatt. Negatív lelet esetén az atípusos töréspontú microdeletiók azonosítására komparatív genomiális hibridizáció vagy multiplex ligatiofüggő próbaamplifikációs vizsgálat javasolt. A betegek számára multidiszciplináris ellátás szükséges, III-as progresszivitási szintű újszülött intenzív részlegen, gyermekkardiológus és klinikai genetikus részvételével. Orv Hetil. 2022; 163(1): 21–30. Summary. Introduction: The 22q11.2 microdeletion syndrome is the most common cause of DiGeorge syndrome, showing a wide phenotypic spectrum and has an estimated incidence of 1/4000–6000 livebirths. Objective: Detailed characterization of the clinical signs/symptoms associated with 22q11.2 deletion, estimation of the national incidence via establishing a Hungarian register. Method: Retrospective data between 2005 and 2019 from the 2nd Department of Paediatrics, Semmelweis University and from national database of congenital anomalies were obtained. Phenotypic abnormalities were described using the Human Phenotype Ontology nomenclature. Results: A cohort of 114 DiGeorge patients and 113 patients negative for FISH testing were included. The mean age of patients at diagnosis was 5.88 (± 9.66 SD) years and 54.9% of patients had at least one heart surgery until diagnosis. The main identified symptoms were ventricular septal defect, low-set ears, recurrent infections, high narrow palate and motor development delay. Discussion: The estimated incidence of DiGeorge syndrome in Hungary is 1/12 500 births, the frequency of infants at high risk and in need for surgery is high. Diagnosis is established 2–3 years earlier as compared to the international average. Conclusion: Based on the established Hungarian register, the incidence is lower compared to international data. In the case of conotruncal heart anomaly and ventricular septal defects, cytogenetic testing is recommended for the increased probability of DiGeorge syndrome. For second-tier testing, comparative genome hybridization or multiplex ligation-dependent probe amplification are recommended to identify atypical microdeletions. Newborns with DiGeorge syndrome require special care in perinatal intensive centers including pediatric cardiology and genetic counseling. Orv Hetil. 2022; 163(1): 21–30.

On the Utilization of an Ensemble of Meta-Heuristics for Simulating Energy Consumption in Buildings

Predicting energy consumption has been a substantial topic because of its ability to lessen energy wastage and establish an acceptable overall operational efficiency. Thus, this research aims at creating a meta-heuristic-based method for autonomous simulation of heating and cooling loads of buildings. The developed method is envisioned on two tiers, whereas the first tier encompasses the use of a set of meta-heuristic algorithms to amplify the exploration and exploitation of Elman neural network through both parametric and structural learning. In this regard, ten meta-heuristic were utilized, namely differential evolution, particle swarm optimization, invasive weed optimization, teaching-learning optimization, ant colony optimization, grey wolf optimization, grasshopper optimization, moth-flame optimization, antlion optimization, and arithmetic optimization. The second tier is designated for evaluating the meta-heuristic-based models through performance evaluation and statistical comparisons. Besides, an integrative ranking of the models is achieved using average ranking algorithm.

A rhythmically pulsing leaf-spring nanoengine that drives a passive follower

Molecular engineering seeks to create functional entities for the modular use in the bottom-up design of nanoassemblies that can perform complex tasks. Such systems require fuel-consuming nanomotors that can actively drive downstream passive followers. Most molecular motors are driven by Brownian motion, but the generated forces are scattered and insufficient for efficient transfer to passive second-tier components, which is why nanoscale driver-follower systems have not been realized. Here, we describe bottom-up construction of a DNA-nanomachine that engages in an active, autonomous and rhythmical pulsing motion of two rigid DNA-origami arms, driven by chemical energy. We show the straightforward coupling of the active nanomachine to a passive follower unit, to which it then transmits its own motion, thus constituting a genuine driver-follower pair. Our work introduces a versatile fuel-consuming nanomachine that can be coupled with passive modules in nanoassemblies, the function of which depends on downstream sequences of motion.

Do China’s Urban–Environmental Quality and Economic Growth Conform to the Environmental Kuznets Curve?

The environmental Kuznets curve (EKC) expresses the relationship between environmental quality and economic growth. Based on the defects of previous studies on EKC using only environmental pollution indicators, this study holds that environmental quality is the result of pollutants after treatment, absorption, and self-purification, including two dimensions of pollution and absorption. Therefore, the environmental pollution and absorption data of 74 key environmental monitoring cities in China from 2005 to 2017 were selected, and a comprehensive index of environmental quality was constructed using the vertical and horizontal grading method. Then, based on the relevant economic growth indicators of these cities, they were divided into first-tier and new first-tier, second-tier, third-tier, and below. It was found that the EKC of the total sample, the first-tier and new first-tier cities, and the second-tier cities presented an inverted N-shape and had passed the second inflection point, where environmental quality continues to improve with the deepening of economic growth. There was no EKC in the third-tier and below cities. The findings have important implications. China can cross the second inflection point of the EKC and improve environmental quality at a low income level. Therefore, by vigorously developing cleaner production technologies and raising residents’ awareness of environmental protection, it is possible to improve environmental quality at a lower income level than expected, which provides a useful reference for other developing countries.

Ecological Livability Assessment of Urban Agglomerations in Guangdong-Hong Kong-Macao Greater Bay Area

This paper proposes the “citizen-ecology-city” evaluation framework for urban ecological livability theoretically and studies the ecological livability of the Guangdong-Hong Kong-Macao Greater Bay Area (GBA) empirically. In addition, we analyze the factors of urban ecological livability in a spatial dynamic panel model. The results are as follows. (1) Ecological livability levels of Macao and Hong Kong are significantly higher than the nine cities in the PRD; (2) Shenzhen and Guangzhou lead the nine cities in the PRD, while Jiangmen and Zhaoqing perform poorly; (3) GBA cities can be divided into three categories: Macao, Hong Kong, Shenzhen, and Guangzhou in the first tier; Zhuhai, Foshan, and Dongguan in the second tier; Huizhou, Zhongshan, Jiangmen, and Zhaoqing in the third tier; and (4) The ecological livability of the GBA cities has a characteristic of spatial correlation. In terms of the international value, the three-dimensional evaluation framework can apply to other bay areas in the world.

T-Pattern Detection and Analysis of Football Players’ Tactical and Technical Defensive Behaviour Interactions: Insights for Training and Coaching Team Coordination

This article aims to study the coordination of the defenders’ tactical and technical behaviour of successful teams to recover the ball according to contextual variables. A total of 15,369 (480.28 ± 112.37) events and 49 to 12,398 different patterns in 32 games of the 2014 FIFA World Cup’s play-offs were detected and analysed. Results evidenced a T-pattern of the first defender pressuring the ball carrier and his teammates concentrating at the same zone to cover him or space, leading to ball recovery. Field zones, first defender tactical and technical behaviours, and ball carrier first touch constituted opportunities for defenders to coordinate themselves. Moreover, the third defender had a predominant role in his teammates’ temporisation and covering zone behaviours. In the draw, first half, second-tier quality of opponent and play-offs excluding third place and final matches, the ball regularly shifted from upper to lower field zones in short periods, resulting in ball recovery or shot on goal conceded. Defenders performed behaviours farther from the ball carrier, and player-marking were most recurrent to an effective defence. This study’s findings could help coaches give specific tips to players regarding interpersonal coordination in defence and set strategies to make tactical behaviour emerge globally.

PERAMALAN VOLATILITAS DAN ESTIMASI VALUE AT RISK (VaR) SAHAM BLUE CHIP PADA SEKTOR PERBANKAN

Investment is an activity to invest an asset to obtain a greater profit. The investment there's in great demand by investors are stock investments. Based on market capitalization, stocks are classified into first-tier, second-tier, and third-tier stocks. Stocks that have the highest market capitalization are first-tier or blue-chip stocks. Blue-chip stocks are stocks that are classified as main shares on the listing board on the IDX. Before investing, it's important to know the level of investment risk in order to make the right investment decisions. The purpose of this study is to determine the risk of investing in blue-chip stocks namely BRI, BCA, and Bank Mandiri through volatility forecasting using the GARCH, EGARCH, or TGARCH models. The data used is the daily closing price of shares for the period of 25 May 2005 to 21 May 2021 which was obtained through the Yahoo Finance website. Based on the research results, it's known that Bank Mandiri has the highest investment risk and BCA has the lowest investment risk. Based on these results, it can be suggested that investors who like risk can choose to invest in Bank Mandiri shares, and those who don't like risk can invest in BCA shares.

Outcomes of second-tier rapid response activations in a tertiary referral hospital: A prospective observational study

Introduction: A second-tier rapid response team (RRT) is activated for patients who do not respond to first-tier measures. The premise of a tiered response is that first-tier responses by a ward team may identify and correct early states of deterioration or establish goals of care, thereby reducing unnecessary escalation of care to the RRT. Currently, utilisation and outcomes of tiered RRTs remain poorly described. Methods: A prospective observational study of adult patients (age ≥18 years) who required RRT activations was conducted from February 2018 to December 2019. Results: There were 951 consecutive RRT activations from 869 patients and 76.0% patients had a National Early Warning Score (NEWS) ≥5 at the time of RRT activation. The majority (79.8%) of patients required RRT interventions that included endotracheal intubation (12.7%), point-of-care ultrasound (17.0%), discussing goals of care (14.7%) and intensive care unit (ICU) admission (24.2%). Approximately 1 in 3 (36.6%) patients died during hospitalisation or within 30 days of RRT activation. In multivariate analysis, age ≥65 years, NEWS ≥7, ICU admission, longer hospitalisation days at RRT activation, Eastern Cooperative Oncology Group performance scores ≥3 (OR [odds ratio] 2.24, 95% CI [confidence interval] 1.45–3.46), metastatic cancer (OR 2.64, 95% CI 1.71–4.08) and haematological cancer (OR 2.78, 95% CI 1.84–4.19) were independently associated with mortality. Conclusion: Critical care interventions and escalation of care are common with second-tier RRTs. This supports the need for dedicated teams with specialised critical care services. Poor functional status, metastatic and haematological cancer are significantly associated with mortality, independent of age, NEWS and ICU admission. These factors should be considered during triage and goals of care discussion. Keywords: Clinical deterioration, critical care, intensive care, mortality, rapid response system, rapid response team

Origins and Growth of Big Businesses in China

Chapter 3 elaborates on the origins of large businesses, particularly business groups, which have been leading the economic catch-up in China. The majority of firms listed on the stock markets in China are business groups, which are comparable to their counterparts in Japan (keiretsu) and in Korea (chaebols). However, the chief differences between large business groups in China and those in Korea and Japan are that the former are less diversified and are owned by the state, not by particular families (as in Korea) or commercial banks (as in Japan). Chinese business groups typically maintain a vertical structure, with the core company at the first tier and closely related companies at the second tier. Their performance in the 2000s also had strengths (high growth) and weaknesses (lower profitability) similar to those in neighboring countries, such as chaebols in the 1990s in Korea.