Results 121 to 130 of about 15,020 (275)

Infantile hypophosphatasia in a Chinese patient: identification and characterization of novel compound heterozygous ALPL mutations

Human Genome Variation
Here we report a Chinese infant with hypophosphatasia (HPP) carrying alkaline phosphatase (ALPL) gene mutations. Genetic analysis of the patient’s ALPL gene revealed a maternally inherited canonical splice-site variant (c.997+1G>T; pathogenic; PVS1 + PM2 
Wenjuan Li, Shujing Zeng, Jun Jiang, Bin Liu   +3 more
doaj   +1 more source

Exploring Planetary Health Resilience to Air Pollution Across Exposure Durations Using Nationally Representative Data from Korea

Proceedings
According to 2020 OECD data, PM2 [...]
Sujin Ma, Jin-Won Noh
doaj   +1 more source

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, EarlyView.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

Source-specific fine particulates emission linked to prevalence of ophthalmic cases in India

Scientific Reports
Particulate Matter (PM) pollution is a prime component of air pollution and poses a substantial risk to human health, including the eye. This work envisioned to show the impact of PM2·5 pollution on the Ophthalmic disease prevalence in India.
Saroj Kumar Sahu, Ashirbad Mishra, Poonam Mangaraj, Ravi Yadav, Mahesh Chandra Sahu, Gufran Beig, Bhishma Tyagi, Sachin S. Gunthe, B. Anjan Kumar Prusty, Madhusmita Mishra   +9 more
doaj   +1 more source

Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Inherited platelet disorders (IPDs) are rare hematologic conditions encompassing a heterogeneous spectrum of quantitative and qualitative platelet defects, frequently associated with variable clinical phenotypes and comorbidities. Accurate diagnosis necessitates comprehensive genetic characterization, detailed clinical and bleeding ...
Silvia Ferrari, Daniela Regazzo, Antonella Bertomoro, Anna Cerbo, Alessandro Galbiati, Elisabetta Cosi, Paolo Simioni   +6 more
wiley   +1 more source

A case of maturity‐onset diabetes of the young with a pathogenic HNF1A variant and a coexisting NEUROD1 variant

Journal of Diabetes Investigation, EarlyView.
ABSTRACT Aims/Introduction Maturity‐onset diabetes of the young (MODY) accounts for at least 1%–5% of diabetes cases and is usually caused by single gene variants. Accurate diagnosis of MODY is important for effective management, especially in young individuals who are lean and lack islet autoantibodies.
Tomofumi Takayoshi, Yushi Hirota, Kenji Sugawara, Aki Sugano, Mika Ohta, Takehito Takeuchi, Akane Yamamoto, Wataru Satake, Yutaka Takaoka, Wataru Ogawa   +9 more
wiley   +1 more source

Operating Experience by Retrofitting PM2 Press Section

JAPAN TAPPI JOURNAL, 2011
レンゴー（株）金津事業所製紙工場2号抄紙機は，坪量115～200g/m2の中芯原紙を抄造している。同抄紙機は1969年より稼動を開始し，1989年に3Pプレスのシュープレス化等で，抄速アップを図り操業してきたが，稼動当初より使用している機器は老朽化が著しく，No.1，2プレスはフレーム自体が歪み操業上問題があり，2009年8月から9月にかけて，新規プレスに改造を行い，プレス出口の湿紙水分が低下し生産性が向上した。本報告では，2号抄紙機のプレス改造の概要，効果及びトラブル事例について紹介する。
openaire   +1 more source

Integrative taxonomy reveals four new species of the armoured catfish genus Pareiorhina (Siluriformes: Loricariidae) from the upper Paraná River basin, Brazil

Journal of Fish Biology, EarlyView.
Abstract Four new species of the small‐sized armoured catfish genus Pareiorhina are described from mountain ranges in the Grande River drainage, upper Paraná River basin, based on morphological and molecular species delimitation methods. Molecular analyses based on the cytochrome oxidase subunit I (COI) marker recovered Pareiorhina as polyphyletic ...
Pedro L. C. Uzeda, Luana J. Sartori, Axel M. Katz, Felipe P. Ottoni, Wilson J. E. M. Costa, Francisco Langeani, Valter M. Azevedo‐Santos   +6 more
wiley   +1 more source

METODOLOGIJA EU PM2

Željeznice 21
Željeznički infrastrukturni projekti često su vrlo složeni i zahtjevni i to iz više razloga među kojima treba istaknuti linijsku gradnju kroz različite terenske morfologije te brojnost zainteresiranih dionika. Dodatnu kompleksnost imaju projekti sufinancirani sredstvima iz EU-ovih fondova za koje je važno doseći traženu uspješnost projekta, odnosno ...
openaire   +2 more sources

The Role of the Oral Microbiome in Circulating Metabolic Biomarkers and the Influence of Air Pollution

Oral Diseases, EarlyView.
ABSTRACT Aims The oral microbiome is at the frontline for environmental exposure and plays an important role in human metabolism. This study explores the relationship between PM2.5 exposure, the oral microbiome, and metabolic biomarkers including ghrelin, resistin, and insulin.
Jiajun Luo, Yuqing Wu, Habibul Ahsan, Christopher O. Olopade, Jayant M. Pinto, Briseis Aschebrook‐Kilfoy   +5 more
wiley   +1 more source