Congenital disorders of glycosylation in children – Histopathological and ultrastructural changes in the liver by Patryk Lipiński, Joanna Cielecka-Kuszyk, Elżbieta Czarnowska, Anna Bogdańska, Piotr Socha, Anna Tylki-Szymańska

“…Background: Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and their attachment to proteins and lipids. …”
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Structural Transformation of Metastable Two-Electron Superatom Au-Doped Cu-Rich Alloy Nanocluster by Rhone P. Brocha Silalahi, Samia Kahlal, Jean-Yves Saillard, C. W. Liu

“…<b>AuCu₁₁H</b> comprises a ligand-stabilized defective <i>fcc</i> Au@Cu₁₁ cuboctahedron. …”
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Mapping gene associations in human mitochondria using clinical disease phenotypes. by Curt Scharfe, Henry Horng-Shing Lu, Jutta K Neuenburg, Edward A Allen, Guan-Cheng Li, Thomas Klopstock, Tina M Cowan, Gregory M Enns, Ronald W Davis

“…Utilizing these differences, we propose 168 candidate genes that resemble the characteristic interaction patterns of mitochondrial disease genes. …”
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Targeted induction of endoplasmic reticulum stress induces cartilage pathology. by M Helen Rajpar, Ben McDermott, Louise Kung, Rachel Eardley, Lynette Knowles, Mel Heeran, David J Thornton, Richard Wilson, John F Bateman, Richard Poulsom, Peter Arvan, Karl E Kadler, Michael D Briggs, Raymond P Boot-Handford

“…Pathologies caused by mutations in extracellular matrix proteins are generally considered to result from the synthesis of extracellular matrices that are defective. Mutations in type X collagen cause metaphyseal chondrodysplasia type Schmid (MCDS), a disorder characterised by dwarfism and an expanded growth plate hypertrophic zone. …”
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Cell cycle-independent phospho-regulation of Fkh2 during hyphal growth regulates Candida albicans pathogenesis. by Jamie A Greig, Ian M Sudbery, Jonathan P Richardson, Julian R Naglik, Yue Wang, Peter E Sudbery

“…We confirmed that these changes in gene expression resulted in corresponding defects in pathogenic processes. Furthermore, we identified that Fkh2 interacts with the chromatin modifier Pob3 in a phosphorylation-dependent manner, thereby providing a possible mechanism by which the phosphorylation of Fkh2 regulates its specificity. …”
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Headbobber: a combined morphogenetic and cochleosaccular mouse model to study 10qter deletions in human deafness. by Annalisa Buniello, Rachel E Hardisty-Hughes, Johanna C Pass, Eva Bober, Richard J Smith, Karen P Steel

“…The recessive mouse mutant headbobber (hb) displays the characteristic behavioural traits associated with vestibular defects including headbobbing, circling and deafness. …”
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Microstructural changes of whole brain in patients with comitant strabismus: evidence from a diffusion tensor imaging study by Huang X, Li H, Zhang Y, Peng D, Hu P, Zhong Y, Zhou F, Shao Y

“…Meanwhile, MD value was significantly reduced in the brain regions of the bilateral cerebellum posterior lobe and left middle frontal gyrus but increased in the brain regions of the right middle frontal gyrus and left anterior cingulate.Conclusion: These results suggest significant brain abnormalities in comitant strabismus, which may underlie the pathologic mechanisms of fusion defects and ocular motility disorders in patients with comitant strabismus. …”
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Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genes. by Thomas J Carney, Natália Martins Feitosa, Carmen Sonntag, Krasimir Slanchev, Johannes Kluger, Daiji Kiyozumi, Jan M Gebauer, Jared Coffin Talbot, Charles B Kimmel, Kiyotoshi Sekiguchi, Raimund Wagener, Heinz Schwarz, Phillip W Ingham, Matthias Hammerschmidt

“…The mutants of the first class are characterized by defects in embryonic fin morphogenesis, which are due to mutations in a Laminin subunit or an Integrin alpha receptor, respectively. …”
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MULTI-WAVE ULTRASONIC CONTROL OF CONCRETE by D. Yu. Snezgkov, S. N. Leonovich

“…Responsivity of the Rayleigh wave parameters to near surface concrete defects permits quickly and efficiently to detect crack areas in a reinforced structure. …”
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Expression and correlation of male reproductive hormone levels with abnormal semen liquefaction time by Guo-qiong Zhang, Jie Zheng, Lian He, Xing-xing Wang

“…The sensitivity of FSH for predicting semen liquefaction defects is 72.2%, whereas testosterone exhibits a sensitivity of 94.4%.Conclusion The semen liquefaction time of male infertility patients is closely correlated with semen parameters and reproductive hormone levels. …”
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VEXAS, Chediak–Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator? by Coline Savy, Maxence Bourgoin, Thomas Cluzeau, Arnaud Jacquel, Guillaume Robert, Patrick Auberger

“…It is thus well established that different cell types from Danon disease patients that harbor invalidating mutations in LAMP2 exhibit giant lysosomes containing undigested materials characteristic of defects in the fusion of lysosomes with autophagosomes, a feature also found in VEXAS and CHS. …”
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In Situ LID and Regeneration of PERC Solar Cells from Different Positions of a B-Doped Cz-Si Ingot by Shuai Yuan, Siqi Ding, Bin Ai, Daming Chen, Jingsheng Jin, Jiaxing Ye, Depeng Qiu, Xiaopu Sun, Xueqin Liang

“…The results show that the LID and regeneration of the PERC solar cells are caused by the transition of B-O defects playing a dominant role together with the dissociation of Fe-B pairs playing a secondary role. …”
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Wag31, a membrane tether, is crucial for lipid homeostasis in mycobacteria by Yogita Kapoor, Himani Khurana, Debatri Dutta, Arnab Chakraborty, Anshu Priya, Archana Singh, Siddhesh S Kamat, Neeraj Dhar, Thomas John Pucadyil, Vinay Kumar Nandicoori

“…The mycobacterial cytoskeletal protein Wag31 is necessary for maintaining cell shape and directing cellular growth and elongation. Wag31 has a characteristic N-terminal DivIVA-domain and a C-terminal coiled-coil domain. …”
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Parkinsonism and Seizures in Fahr’s Disease: A Report of Two Cases by Bolisetty Shanmukha Sai, Tankasala Gangaram, Taruguvandla Sandhya Rani, Jennie Santhanam, SN Meenakshi Sundari

“…Patients may present with headaches, movement disorders, seizures, cognitive defects, and psychiatric manifestations, which are usually mistaken for other neurological conditions. …”
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Hybrid closed-loop systems for managing blood glucose levels in type 1 diabetes: a systematic review and economic modelling by Asra Asgharzadeh, Mubarak Patel, Martin Connock, Sara Damery, Iman Ghosh, Mary Jordan, Karoline Freeman, Anna Brown, Rachel Court, Sharin Baldwin, Fatai Ogunlayi, Chris Stinton, Ewen Cummins, Lena Al-Khudairy

“…Patient baseline characteristics in the EAG base case are drawn from the National Diabetes Audit subgroup of type 1 diabetes patients on pumps. …”
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A CASE OF FAMILIAL PORFIRIA by Laman Hamidova, Oktay Abdullayev, Zari Balaşova, Farid Mammadov

“…Introduction: Porphyria is a group of metabolic diseases caused by hereditary defects in the enzymatic system of heme biosynthesis. …”
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The influence of 3D printing mode on the chemical composition and structure of 30HGSA steel by Yury G. Kabaldin, Maksim S. Anosov, Yuliya S. Mordovina, Mikhail A. Chernigin

“…Microstructural studies of all samples did not reveal a large number of systemically formed structural defects characteristic of cast and welded products (pores, shrinkage cavities, etc.), which confirms the high quality of the metal in goods produced by electric arc surfacing. …”
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Genetic determinants of chronic obstructive pulmonary disease in South Indian male smokers. by Cholendra Arja, Rajasekhara Reddy Ravuri, Venugopal N Pulamaghatta, Krishna Mohan Surapaneni, Premanand Raya, Chandrasekhar Adimoolam, Kodanda Reddy Kanala

“…The development of chronic obstructive pulmonary disease, upon exposure to tobacco smoke, is the cumulative effect of defects in several genes. With the aim of understanding the genetic structure that is characteristic of our patient population, we selected forty two single nucleotide polymorphisms of twenty genes based on previous studies and genotyped a total of 382 samples, which included 236 patients and 146 controls using Sequenom MassARRAY system. …”
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The knee alignment and the foot arch in patients with Turner syndrome Ukształtowanie kolan i wysklepienie stóp u chorych z zespołem Turnera by Katarzyna Milde, Andrzej Wiśniewski, Elżbieta Olszewska, Dorota Trzcińska, Marcin Madej

“…Introduction: It is established that patients with Turner syndrome (TS) have numerous defects of the skeletal system, including in the lower extremities structure. …”
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PROBLEMS OF DIAGNOSIS AND TREATMENT OF PATIENTS WITH BACKGROUND PROCESSES AND TUMOR PATHOLOGY OF THE VULVA by A. V. Zharov, E. V. Kolesnikova, G. A. Penzhoyan

“…We have developed and widely implemented the methods of closing wound defects in everyday practice and evaluated their effectiveness. …”
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