bluuebunny/crossref_metadata_2025_split huggingface dataset:
Rett syndrome: clinical peculiarities and biological mysteries
Authors: Hagberg B 
Published: January 2008

Rett syndrome, a peculiar neurodevelopmental deficiency affecting females, which starts in early childhood, is reviewed based on a Swedish series of 170 females, 2‐52 years of age (to December 1994). To date, the well recognized classical phenotype was found in 75% of cases. Atypical variant forms, mainly more mildly affected mentally retarded girls and adolescent women, were still in a minority, but constitute, with increasing experience, an expanding cohort. The biology and genetics of the condition seem puzzling. Traditional neurodegenerative pathology has been excluded. An age‐limited neurodevelopmental, as yet unknown, brain growth deficiency, is at present indicated. The syndrome is most probably genetically determined, but the mode of transmission is not convincingly compatible with any known pattern.Rett syndrome, review B Hagberg, Department of Paediatrics, East Hospital, S‐416 85 Gothenburg, Sweden
Respiratory water loss in relation to gestational age in infants on their first day after birth
Authors: Riesenfeld T , Hammarlund K , Sedin G 
Published: January 2008

Respiratory water loss, oxygen consumption and carbon dioxide production were measured in 32 infants on their first day after birth. Gestational age was between 27 and 41 weeks. All infants were studied in incubators with 50% ambient relative humidity and an ambient temperature that allowed the infant to maintain a normal and stable body temperature. During the measurements the infants were usually asleep. Respiratory water loss was found to be highest in the most preterm infants and lower in more mature infants. Respiratory water loss per breath (mg/kg) was almost the same at all gestational ages and the higher respiratory water loss found in the most preterm as compared with the more mature infants is thus due to a higher rate of breathing. Oxygen consumption was lowest in the most preterm infants and increased with increasing gestational age. Thus, in full‐term infants respiratory water loss and transepidermal water loss are of approximately equal magnitude at an ambient humidity of 50%, while respiratory water loss constitutes a smaller proportion than trans‐epidermal water loss in very preterm infants. Respiratory water loss increases with the rate of breathing. ? Insensible water loss, oxygen consumption, preterm infants, respiratory water loss G Sedin, Department of Paediatrics, University Hospital, S‐751 85 Uppsala, Sweden
Subaponeurotic haemorrhage in the 1990s: a 3‐year surveillance
Authors: Ng PC , Siu YK , Lewindon PJ 
Published: January 2008

A 3‐year survey of subaponeurotic haemorrhage (January 1991 to December 1993) in a tertiary referral centre in Hong Kong revealed that the incidence of this life‐threatening condition was 6.4 per 1000 ventouse‐associated deliveries, which is 60‐fold more common than with other modes of childbirth. We highlight a lesser known phenomenon of marked male predominance (male to female ratio 8:1). Three of 18 (17%) infants with subaponeurotic haemorrhage died. Severe subaponeurotic haemorrhage with a decrease in venous haematocrit > 25% of the baseline value at birth and requiring urgent blood transfusion in the first 12 h, in association with significant birth asphyxia with arterial cord blood pH < 7.20 and 1‐minApgar score3 were the most important risk factors for death. A worrying feature was the silent presentation of occult subaponeurotic haemorrhage in two of the fatal cases. Frequent monitoring of haematocrit, early and rapid restoration of blood volume and prompt commencement of cardiac inotropes are the keys to the management of this condition, which should be suspected in all ill newborn infants subjected to the ventouse applicator, Cord blood pH, haematocrit, subaponeurotic haemorrhage, ventouse PC Ng, Department of Paediatrics, Level 6, Clinical Sciences Building, Prince of Wales Hospital, Shatin, NT, Hong Kong
Primary idiopathic hypomagnesemia in two female siblings
Authors: Challa A , Papaefstathiou I , Lapatsanis D , Tsolas O 
Published: January 2008

Two female siblings with primary idiopathic hypomagnesemia, born to consanguineous parents, are described. Both presented at 6 weeks of age, with convulsions and persistent hypocalcemia (calcium 1.5 and 1.6 mmol/1; normal range (NR) 2.2‐2.6 mmol/1), which could not be controlled with anticonvulsants and/or calcium gluconate. On further investigation they were also found to have hypomagnesemia (magnesium 0.17 mmol/1 and 0.22 mmol/l; NR 0.65‐1.05 mmol/l). Convulsions and the low serum calcium and magnesium levels were first managed by im and then by oral administration of magnesium supplements. A burst in circulating parathyroid hormone levels to well above the physiological range was observed at the start of therapy. Serum magnesium values of the mother and father were just below the normal range, with normal serum calcium. This type of infantile primary hypomagnesemia appears to be a hereditary disease with autosomal recessive characteristics, although a partially penetrant X‐linked or autosomal dominant trait cannot be excluded. Convulsions,primary hypomagnesemia
Sirt1 protects the heart from aging and stress
Authors: Hsu Chiao-Po , Odewale Ibrahim , Alcendor Ralph R. , Sadoshima Junichi 
Published: January 2008

Abstract
The prevalence of heart diseases, such as coronary artery disease and congestive heart failure, increases with age. Optimal therapeutic interventions that antagonize aging may reduce the occurrence and mortality of adult heart diseases. We discuss here how molecular mechanisms mediating life span extension affect aging of the heart and its resistance to pathological insults. In particular, we review our recent findings obtained from transgenic mice with cardiac-specific overexpression of Sirt1, which demonstrated delayed aging and protection against oxidative stress in the heart. We propose that activation of known longevity mechanisms in the heart may represent a novel cardioprotection strategy against aging and certain types of cardiac stress, such as oxidative stress.
TSH-Rezeptor-Antikörperbestimmung und ihre Diagnostische Wertigkeit / The diagnostic value of thyrotropin receptor antibody measurement
Authors: Albrecht Christin , Steveling Antje , Wallaschofski Henri 
Published: January 2008

Zusammenfassung
Der Morbus Basedow wird durch stimulierende TSH-Rezeptorantikörper (TRAK) verursacht. Neue Methoden zum Nachweis dieser Antikörper und deren klinischer Nutzen werden im Detail angesprochen und diskutiert. Diese sehr sensitiven Assays sind einfach verfügbar und kosteneffizient. Der routinemäßige Einsatz erlaubt eine klare Differenzierung zwischen Immunhyperthyreose und anderen Formen der Hyperthyreose. Trotz der verbesserten Sensitivität und Spezifität erlauben die neuen TRAK-Assays keine individuelle Prädiktion des klinischen Verlaufes des Morbus Basedow oder der endokrinen Orbitopathie.
Differentialdiagnostik des Syndrom der inadäquaten ADH-Sekretion gegenüber dem zerebralen Salzverlust-Syndrom / Differential Diagnosis – Syndrome of inappropriate ADH-Secretion (SIADH) versus Cerebral Salt-Wasting Syndrome (CSW)
Authors: Beyersdorf Steffi , Albrecht Christin , Wallaschofski Henri 
Published: January 2008

Zusammenfassung
Hyponatriämie ist eine der häufigsten Komplikationen bei Patienten mit Störungen des zentralen Nervensystems oder nach neurochirurgischen cerebralen Eingriffen. Die exakte Differenzierung zwischen dem Syndrom der inadäquaten ADH-Sekretion (SIADH) und dem zerebralen Salzverlust-Syndrom (CSW) ist aber von grundlegender Bedeutung, da beide Erkrankungen unterschiedliche Prognosen aufweisen und verschiedene Therapien erfordern. Während das SIADH eine bereits gut bekannte Störung ist, ist man noch wenig vertraut mit dem CSW. Dieser Artikel macht deutlich, wie wichtig es ist, das CSW in die differentialdiagnostischen Überlegungen mit einzubeziehen. Es wurden die Äthiologie, Pathophysiologie, Therapie und die Differentialdiagnosen des CSW herausgearbeitet. Im Mittelpunkt stehen dabei die bereits etablierten und die zur Zeit noch untersuchten diagnostischen Labor-Marker.
Mental Health Care Utilization Among Parents of Children With Cancer
Authors: Hu Xin , Grosse Scott D. , Han Xuesong , Marchak Jordan Gilleland , Ji Xu 
Published: April 2024

ImportanceCaring for children diagnosed with cancer may adversely affect the mental health (MH) of parents.ObjectiveTo characterize utilization of MH services among parents of children with vs without cancer using nationwide commercial claims data.Design, Setting, and ParticipantsFor this cross-sectional study, the Merative MarketScan Commercial Claims Database was used to identify continuously insured families of children treated for cancer (aged ≤21 years at diagnosis) during 2010 to 2018, compared with families who matched eligibility criteria but did not have a child with a cancer history. Parents were assessed from 18 months before to 12 months after their child’s cancer diagnosis. Analyses were conducted from February 2022 to September 2023.ExposuresChildren’s cancer diagnosis.Main Outcomes and MeasuresOutcomes included parents’ MH-related visits during the first year following their child’s cancer diagnosis. Logistic regressions compared outcomes between families of children with vs without cancer, adjusting for sociodemographic and clinical factors.ResultsThis study included 4837 families of children with cancer (4210 mothers and 4016 fathers) and 24 185 families of children without cancer (21 444 mothers and 19 591 fathers) with continuous insurance enrollment. Most household leads were aged 35 to 54 years (3700 [76.5%] in families of children with cancer vs 17 812 [73.6%] in families of children without cancer) and resided in urban areas (4252 [87.9%] vs 21 156 [87.5%]). The probabilities of parents having anxiety-related visits (10.6% vs 7.0%), depression-related visits (8.4% vs 6.1%), and any MH-related visits (18.1% vs 13.3%) were higher in families of children with vs without cancer. Adjusted analyses showed absolute increases of 3.2 percentage points (95% CI, 2.3 to 4.0; 45.7% relative increase), 2.2 percentage points (95% CI, 1.4 to 3.0; 36.1% relative increase), and 4.2 percentage points (95% CI, 3.1 to 5.3; 31.3% relative increase) in the probabilities of 1 or both parents having anxiety-related visits, depression-related visits, and any MH-related visits, respectively, among families of children with vs without cancer. Such differences were greater in magnitude among mothers than fathers.Conclusions and RelevanceIn this cohort study of privately insured parents, those caring for children with cancer had a higher likelihood of utilizing MH care than other parents. These findings underline the importance of interventions toward targeted counseling and support to better meet MH care needs among parents and caregivers of children with cancer.
Extraction and Purification of Lithium from Minerals
Authors: Wilson Shane M. , Gilligan Rorie , Nikoloski Aleksandar N. 
Published: April 2024

AbstractDemand for lithium‐ion batteries for use in electric vehicles is driving lithium demand. A large increase in demand between now and 2040 is expected due to increasing electrification of the transport and energy sectors of the economy. This is in part due to an interest in improving air quality in cities and in the reduction of greenhouse gas emissions when electricity is generated without fossil fuel combustion. Currently, the two major natural sources of lithium for use in lithium‐ion batteries are brines and hard‐rock minerals. Lithium‐bearing clays have also been investigated as a potential source of lithium. Battery recycling is another potential source. Lithium in hard‐rock minerals is predominantly found in pegmatites. Lithium‐bearing minerals that may occur in pegmatites include petalite, lepidolite, and spodumene. The latter is currently the predominant hard‐rock lithium source. Following comminution, a number of treatments or combinations of treatments can be used to produce materials suitable for the final stage of purification of lithium products. Most involve high‐ or very‐high‐temperature treatments with various reagents followed by water leaching, although a few treat lithium‐bearing feed directly with acid leaching. Other elements are co‐leached and must be separated from lithium to allow the production of high‐purity lithium carbonate or lithium hydroxide, which are then used to manufacture lithium‐ion battery cathodes.
The prognosis of patients treated with everolimus for advanced ER‐positive, HER2‐negative breast cancer is driven by molecular features
Authors: Salaün Hélène , Djerroudi Lounes , Haik Laura , Schnitzler Anne , Bataillon Guillaume , Deniziaut Gabrielle , Bièche Ivan , Vincent‐Salomon Anne , Debled Marc , Cottu Paul 
Published: April 2024

AbstractEverolimus is widely used in patients with advanced ER‐positive, HER2‐negative breast cancer. We looked at alterations in the PIK3CA/AKT/mTOR pathway in a multicenter cohort as potential biomarkers of efficacy. Patients with advanced ER‐positive, HER2‐negative breast cancer treated with everolimus and endocrine therapy between 2012 and 2014 in two cancer centers were included. Targeted sequencing examined mutations in PIK3CA, ESR1, and AKT1 genes. An immunochemical analysis was conducted to evaluate expression of PTEN, INPP4B, STK11, p4EBP1, and pS6. We analyzed 71 patients (44 primary tumors; 27 metastatic tissues). Median age was 63 years [58–69]. All patients had heavily pretreated advanced disease. A mutation in the PIK3CA pathway was observed in 32 samples (PIK3CA exons 10 and 21 and AKT1 exon 4 in 15.5%, 24.0%, and 5.6% of samples), and in ESR1 in 5 samples (7.0%), respectively. Most samples showed cytoplasmic expression of the PIK3CA pathway proteins. Progression‐free survival was longer in patients with a pS6 or p4EBP1 histoscore ≥ median value (6.6 versus 3.7 months, p = 0.037), and in patients with a PTEN histoscore ≤ median value (7.1 versus 5.3 months, p = 0.02). Overall survival was longer in patients with pS6 ≥ 3rd quartile (27.6 versus 19.3 months, p = 0.038) and in patients with any mutation in the PIK3CA/AKT/mTOR pathway (27.6 versus 19.3 months, p = 0.011). The prognosis of patients treated with everolimus for advanced ER‐positive, HER2‐negative breast cancer appears primarily driven by molecular features associated with the activation of the PIK3CA/AKT/mTOR pathway.
Robust Room Temperature Thermoelectric Performance of Mg3(Sb, Bi)2‐Based Alloys via Multivalent Mn Doping
Authors: Yang Kangkang , Li Xiangyu , Sun Congli , Song Wei , Zhao Wenyu , Zhang Qingjie 
Published: April 2024

Abstractn‐type Mg3(Sb, Bi)2 has excellent room temperature thermoelectric performance, which is, however, severely restricted by the negatively charged Mg vacancies that significantly deteriorate the carrier mobility. Herein, by manipulating the threshold solubility and defect formation energy of Mn, multivalent Mn is selectively introduced that synergistically promotes the carrier conduction according to different Mg chemical potentials; In Mg‐rich areas, interstitial Mn dominates which effectively reduces the migration and accumulation of Mg vacancies, while in Mg poor areas, interstitial Mn switches to substitutional sites that directly compensate for the negative charge. All the Mn centers possess Jahn–Teller inactive positions, leading to an ultra‐stable room temperature thermoelectric performance with a leading ZT up to 0.97. This work reveals the critical effect of multivalent and multifunctional transition metal incorporation in Mg3(Sb, Bi)2‐based alloys toward high room‐temperature thermoelectric performance.
Nano‐Scale Interface Engineering of Sulfur Cathode to Enable High‐Performance All‐Solid‐State Li–S Batteries
Authors: Zhong Haoyue , Su Yu , Ma Ruqin , Luo Yu , Lin Hongxin , Gu Jiabao , Gong Zhengliang , Yang Yong 
Published: April 2024

AbstractAll‐solid‐state lithium–sulfur batteries (ASSLSBs) are expected to be the next generation of high‐energy battery systems due to their long lifespan and high safety. However, unstable interfaces between elemental sulfur, conductive carbon, and solid electrolytes lead to slow charge transport and mechanical failures, thereby limiting battery performance. Herein, atomic layer deposition‐derived lithium phosphorus oxide is applied to the surface of carbon/sulfur particles to enhance the interfacial stability of the sulfur cathode and improve the electrochemical performance of ASSLSBs. The coating layer can inhibit electrolyte decomposition and improve interfacial stability by blocking electron conduction between carbon and electrolyte. Moreover, it not only serves as an ion‐conducting layer to facilitate Li+ transport but also acts as a stress buffer layer to alleviate contact failure. The assembled ASSLSBs with sulfide electrolyte exhibit an initial specific capacity of 1322 mAh g−1 at 0.2 C and capacity retention of 86.4% after 300 cycles. Furthermore, ASSLSBs maintain a reversible capacity of 645 mAh g−1 at 0.5 A g−1 after 1000 cycles, confirming the long cycling stability of the coated sulfur cathode. Even under high sulfur loading, ASSLSBs achieve high areal capacities of 4.6 mAh cm−2 at 30 °C and 11.7 mAh cm−2 at 60 °C.
Palladium‐Boride Nanoflowers with Controllable Boron Content for Formic Acid Electrooxidation
Authors: Liu Yi‐Ming , Miao Bo‐Qiang , Yang Han‐Yue , Ai Xuan , Wang Tian‐Jiao , Shi Feng , Chen Pei , Chen Yu 
Published: April 2024

AbstractThe rational design of the electronic structure and elemental compositions of anode electrocatalysts for formic acid electrooxidation reaction (FAOR) is paramount for realizing high‐performance direct formic acid fuel cells. Herein, palladium‐boride nanoflowers (Pd‐B NFs) with controllable boron content are rationally designed via a simple wet chemical reduction method, utilizing PdII‐dimethylglyoxime as precursor and NaBH4 as both reductant and boron source. The boron content of Pd‐B NFs can be regulated through manipulation of reaction time, accompanying with the crystal phase transition from face‐centered cubic to hexagonal close‐packed within the parent Pd lattice. The obtained Pd‐B NFs exhibit increased FAOR mass and specific activity with increasing boron content, showcasing remarkable inherent stability and anti‐poisoning capability compare to commercial Pd and platinum (Pt) nanocrystals. Notably, the sample reacted for 12 h reveals high FAOR specific activity (31.5 A m−2), which is approximately two times higher than the commercial Pd nanocrystals. Density functional theory calculations disclose that the d‐sp orbital hybridization between Pd and B modifies surface d‐band properties of Pd, thereby optimizing the adsorption of key intermediates and facilitating FAOR kinetics on the Pd surface. This study paves the way toward the utilization of metal boride‐based materials with simple synthesis methods for various electrocatalysis applications.
Optical Microcavity‐Induced Moiré Exciton Localization in Twisted WSe2 Homobilayer
Authors: Wu Biao , Xie Xing , Chen Junying , Li Shaofei , Ding Junnan , He Jun , Liu Zongwen , Liu Yanping 
Published: April 2024

Abstract2D moiré superlattices offer a versatile platform for manipulating quantum materials, exploiting their spatially varying atomic registry to modify electronic structures, resulting in the emergence of flat electronic minibands, enhanced electronic interactions, and the onset of novel quantum phenomena. Despite extensive investigations into moiré excitons within twisted bilayer moiré superlattices, the interplay between moiré superlattices and optical microcavities remains elusive. Here, a WSe2 homobilayer with a small twist angle positioned on optical microcavities atop a SiO2 (285 nm)/Si substrate is investigated. Utilizing low‐temperature photoluminescence (PL) spectroscopy, it is observed that the twisted homobilayer at the edge of the optical cavity (Edge‐THB) exhibits enhanced localization of moiré excitons and a deeper moiré potential. This behavior is attributed to the combined influence of strain induced by the optical microcavity structure on the moiré superlattice and the amplification of the electromagnetic field. Furthermore, the existence of moiré excitons through a comprehensive analysis, encompassing temperature‐dependent PL spectra, circularly polarized PL spectra, and Landé g‐factor measurements for Edge‐THB is validated. These findings provide valuable insights into the intricate interaction between moiré superlattices and optical microcavities, paving the way for future applications in quantum technologies.
Printed 1d Perovskite Photodetector for Indoor/Outdoor Non‐Contact and Real‐Time Sports Training Monitoring
Authors: Zhang Jiabing , Xie Hongfei , Hu Yuming , Sun Wei , Lv Mengfei , Han Teng , Tian Xiaolin , Wang Shuang , Su Meng 
Published: April 2024

AbstractAs people increased emphasis on health problems, various wearable electronic devices are developed for sport‐related activity monitoring. However, these reported sensors must be tightly attached on the body to record the photonic, electronic even chemical changes during exercise. Poor user experience hinders the rapid application of wearable sensors. Here, an all‐printed perovskite photodetector for achieving non‐contact sports motion monitoring is developed. 1D MAPbBr3 arrays are printed with uniform orientation and strict crystallization via the droplet‐manipulation printing strategy. Under the guidance of microarrays on the template, the perovskite‐loaded droplet can be self‐shaped into the linear confined liquid space for the next crystallization. 1D perovskite photodetectors with high responsivity (R, MAX: 198 A W−1) and detectivity (D*, MAX: 6.64 × 1013 Jones) can be utilized to detect changes in the ambient light intensity under the body during the push‐up movement, achieving non‐contact real‐time monitoring of motions. The average accuracy of printed photodetectors to classify the collected push‐up signals reaches 97.40%. This strategy provides a reference for further improving the sensing performance of wearable sensors, which also extends the application of sports monitoring.
A Flame‐Retardant, Water Resistant, and Degradable Wood Toward Construction Application
Authors: Sun Xiaoxiao , Chen Yang , Chen Lei , Zheng Dingyuan , Yang Minghui , Yao Wenrui , Zhang Yanhua 
Published: April 2024

AbstractWood presents excellent opportunities for sustainable urbanism as a renewable building material. Here, the chemical synthesis of a novel wood composites (3%PFeW) which owns flame‐retardance, water resistance, and degradability is investigated. The 3%PFeW is composed of porous wood framework impregnated with citric acid, 1,8‐octanediol, and the flame retardants (Fe3O4 and 2‐carboxyethyl phenyl hypophosphite (CEPPA)). The 3%PFeW's effective flame retardancy is realized by the introduction of Fe3O4 and CEPPA. Self‐extinguish phenomenon of 3%PFeW happens after being removed from flame. Moreover, 3%PFeW holds an LOI value of 27, reaching V0 flame retardant standard. The 3%PFeW exhibits exceptional water resistance, being proven by its water contact angle (100 °) as well as the low absorbed water content (only 6.5% after soaking 7 days). In addition, the wood composite shows degradable after immersion in NaOH for several days (71.37% degradation content after 7 days), which facilitates the recycling and reutilization of the wood framework after utilization. The modified wood with flame‐retardant, water resistant, and degradable capabilities shown here provides an appealing composite toward building area.