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Alpo Vuorio, Petri T Kovanen
This review covers the current knowledge about plant stanol esters as a dietary treatment option for heterozygous familial hypercholesterolemia (he-FH) children. The current estimation of the prevalence of he-FH is about one out of 200⁻250 persons. In this autosomal dominant disease, the concentration of plasma low-density lipoprotein cholesterol (LDL-C) is strongly elevated since birth. Quantitative coronary angiography among he-FH patients has revealed that stenosing atherosclerotic plaques start to develop in he-FH males in their twenties and in he-FH females in their thirties, and that the magnitude of the plaque burden predicts future coronary events...
December 1, 2018: Nutrients
Masha Fridkis-Hareli, Michael Storek, Eran Or, Richard Altman, Suresh Katti, Fang Sun, Tao Peng, Jeff Hunter, Krista Johnson, Yi Wang, Ante S Lundberg, Gaurav Mehta, Nirmal K Banda, V MichaelHolers
Complement activation in human diseases is characterized by the local covalent deposition of the long-lived C3 fragments iC3b/C3dg/C3d. Previously, TT30, a complement alternative pathway (AP)-selective inhibitor, was designed as a fusion protein linking the first four short consensus repeats (SCRs) of human complement receptor type 2 (CR2) with the first five SCRs of human factor H (fH). TT30 acts by utilizing CR2 SCR1-4 to bind the initially formed iC3b/C3dg/C3d fragments and delivering surface-targeted inhibition of AP C3 and C5 convertases through fH SCR 1-5...
December 1, 2018: Molecular Immunology
Xiaolu Meng, Nuo Si, Yuqi Shen, Qi Wang, Jiangchun He, Chaoxiao Lu, Wei Wu, Shuyang Zhang, Xue Zhang
OBJECTIVE: To screen for LDLR gene mutations in 9 patients with familial hypercholesterolemia (FH). METHODS: All exons of the LDLR gene and flanking intronic sequences were amplified by PCR and subjected to automatic DNA sequencing. For patients with homozygous or compound heterozygous mutations, parental DNA sequencing or T cloning sequencing was carried out to determine the parental origin of the mutant alleles. RESULTS: Direct sequencing of PCR products revealed 8 LDLR variants in 7 patients, which included c...
December 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Lisa A Lewis, Peter A Rice, Sanjay Ram
Neisseria gonorrhoeae (Ng), the causative agent of gonorrhea, has evolved several mechanisms to subvert complement, including binding of the complement inhibitor factor H (FH). We previously reported FH binding to Ng independently of lipooligosaccharide (LOS) sialylation. Here we report that Factor H-like protein 1 (FHL-1), which contains FH domains 1 through 7 and possesses complement inhibitory activity, also binds to Ng The ligand for both FH and FHL-1 was identified as Neisserial surface protein A (NspA), which has previously been identified as a ligand for these molecules on N...
December 3, 2018: Infection and Immunity
Fatemeh Karami, Iman Salahshourifar, Masoud Houshmand
Objective: APOB-related familial hypercholesterolemia (FH) is the most common hereditary hyperchlosterolemia with an autosomal dominant pattern. A number of APOB variants are the most important risk factors for hyperchlosterolemia. APOB is a large glycoprotein that plays an important role in the metabolism of lipoproteins in the human body. Small changes in the structure and function of APOB can cause major problems in lipid metabolism. Two forms of APOB are produced by an editing process of gene replication...
April 2019: Cell Journal
Shereef Shahen, Manuel O Lagravère, Gennaro Carrino, Fady Fahim, Reham Abdelsalam, Carlos Flores-Mir, Letizia Perillo
BACKGROUND: Reproducible and descriptive Three-dimensional treatment evaluation can enhance future treatment based on realistic results. So, the purpose of this study was to describe a new method for three-dimensional treatment evaluation showing how to use fully-automated craniofacial superimposition of CBCT records combined with reference system to obtain descriptive and comparable results. This new method was named United Reference Method (URM). METHODS: URM is a combination of automated 3D superimposition on anterior cranial base surface anatomy and measurements based on reference system...
December 3, 2018: Progress in Orthodontics
Abdul Malik, Deepak Kumar, Abdul Arif Khan, Azmat Ali Khan, Anis Ahmad Chaudhary, Syed Akhtar Husain, P Kar
Hepatitis B with precore stop codon mutation is related with severe liver damage in HBeAg negative patients. It is of utmost importance to screen the G1896A precore mutation. The study was designed to assess the impact of G1986A mutations in patients with different clinical spectra of the liver disease by PCR-LCR. 210 HBV positive patients with HBeAg negative serology of different kind of liver diseases (AVH = 72, FH = 21, CH = 79, Cirrhosis = 20 and HCC = 18) were screened. Patients were screened for the presence or absence of precore G1896A mutation by PCR-LCR...
November 2018: Saudi Journal of Biological Sciences
Alex Scott, Thomas Michael Zahradnik, Kipling Squier, Charlotte Beck, Liam R Brunham
BACKGROUND: Achilles tendon xanthoma (ATX) results from tendon thickening and subclinical inflammation triggered by hypercholesterolemia, and is associated with more severe coronary artery disease and a higher risk of cardiovascular events. The ability to detect ATX by clinical examination is limited, and diagnostic imaging, for instance, using ultrasonography or magnetic resonance imagine (MRI), may improve the identification of ATX. However, the accuracy of ultrasound (US) imaging or MRI in identifying ATX in people with familial hypercholesterolemia (FH) has not been systematically reviewed...
November 7, 2018: Journal of Clinical Lipidology
Roberta Donadelli, Patrizia Pulieri, Rossella Piras, Paraskevas Iatropoulos, Elisabetta Valoti, Ariela Benigni, Giuseppe Remuzzi, Marina Noris
Membranoproliferative glomerulonephritis (MPGN) was recently classified as C3 glomerulopathies (C3G), and immune-complex (IC) mediated MPGN. Dysregulation of the complement alternative pathway, driven by acquired and/or genetic defects, plays a pathogenetic role in C3G. However, alternative pathway abnormalities were also found in IC-MPGN. The most common acquired drivers are the C3 nephritic factors (C3NeFs), heterogeneous autoantibodies that stabilize the C3 convertase, C3bBb. C3NeFs are traditionally detected by hemolytic assays based on sheep erythrocyte lysis, which however do not provide a direct molecular estimation of C3bBb formation and decay...
2018: Frontiers in Immunology
Yiming Ding, Yaru Feng, Michael Wells, Zhigang Huang, Xiaohong Chen
OBJECTIVES: The goal of this study was to detect and explore the mechanisms of the succinate dehydrogenase (SDH) complex subunit-related gene mutations in cases of multiple paraganglioma (PGL) in the head and neck. METHODS: In Beijing Tongren Hospital (Capital Medical University, Beijing, People's Republic of China) between January 2013 and February 2017, 23 cases of head and neck multiple PGL were evaluated by genetic sequencing. From these cases, four hereditary families and 10 cases with sporadic occurrences were found...
November 28, 2018: Laryngoscope
Ming-Feng Wang, Shuang Li, Lin Liu
PURPOSE: To investigate the changes of condyle position by decreasing posterior occlusal plane angle in Class II high angle cases. METHODS: Fifteen Class II high angle patients, aged from 15 to 30, were treated. Before treatment, ANB>5°, FH-MP>32°, molar relationship was Class II bilaterally. The treatment began with aligning and leveling the upper and lower dental arch, then the upper arch was expanded when necessary. Multiloop edgewise arch wire (MEAW) was used to guide the mandible forward and flatten the posterior occlusal plane...
August 2018: Shanghai Kou Qiang Yi Xue, Shanghai Journal of Stomatology
Ravi Kumar, Michael Bonert, Asghar Naqvi, Kevin Zbuk, Anil Kapoor
BACKGROUND: Succinate dehydrogenase (SDH)- deficient renal cell carcinoma (RCC) is a newly identified rare subtype of RCC, having only gained acceptance from the World Health Organization in 2016. To the best of our knowledge, there are only 55 reported cases worldwide. Here, we report a new case of SDH-deficient RCC. CASE PRESENTATION: A 49-year-old male patient was incidentally found to have a large right renal mass. He had no personal or family history of paragangliomas (PGL), pheochromocytomas (PC), or gastrointestinal stromal tumors (GIST)...
November 27, 2018: BMC Urology
Manuela Schöb, Pascal Müller, Yannick Gerth, Wolfgang Korte, Hans Rickli, Michael Brändle, Andreas Bärlocher, Stefan Bilz
Diagnosis and Treatment of Familial Hypercholesterolemia Abstract. Familial hypercholesterolemia secondary to heterozygous mutations in the LDL receptor, Apolipoprotein B or PCSK9 gene is characterized by 2- to 3-fold elevated LDL cholesterol levels, premature atherosclerosis and extravascular cholesterol deposits (tendon xanthomata, corneal arcus). The same phenotype may occur if a person carries several LDL cholesterol rising polymorphisms (polygenic FH). Primary prevention with statins has been shown to dramatically reduce the cardiovascular burden in patients with the disease...
November 2018: Praxis
Montserrat Dolz, Jordina Tor, Elena De la Serna, Marta Pardo, Daniel Muñoz-Samons, Marta Rodríguez-Pascual, Olga Puig, Gisela Sugranyes, Judith Usall, Vanessa Sánchez-Gistau, Inmaculada Baeza
AIM: Despite the interest in psychosis risk syndrome (PRS) in children and adolescents, information on the syndrome in this population is scarce. METHODS: Prospective naturalistic multi-site study in which 10- to 17-year-old help-seeking subjects who met PRS criteria (positive or negative attenuated symptoms; brief limited intermittent psychotic symptoms; genetic risk or schizotypal personality disorder plus impairment in functioning) were included, along with 45 age and sex-matched healthy controls (HC)...
November 26, 2018: Early Intervention in Psychiatry
Masayuki Nihei, Hiromichi Ida, Takayuki Nibe, Adhitya Mangala Putra Moeljadi, Quang Thang Trinh, Hajime Hirao, Manabu Ishizaki, Masato Kurihara, Takuya Shiga, Hiroki Oshio
Metal oxides with sizes of a few nm show variable crystal and electronic structures depending on their dimensions, and the synthesis of metal oxide particles with a desired size is a key technology in materials science. Although discrete metal oxide particles with the average diameter (d) smaller than 2 nm are expected to show size-specific properties, such ultrasmall metal oxide particles are significantly limited in number. In nature, on the other hand, nano-sized ferrihydrite (Fh), which is ferric oxyhydroxide, occurs as a result of biomineralization in ferritin, an iron storage protein cage...
November 26, 2018: Journal of the American Chemical Society
Chang Xian Li, Lei Lei Chen, Xiang Cheng Li, Kevin Tak-Pan Ng, Xin Xiang Yang, Chung Mau Lo, Xin Yuan Guan, Kwan Man
OBJECTIVES: Apolipoprotein A-1 (ApoA-1) is involved in regulating both lipid and energy metabolism, which may play important roles in liver regeneration, especially for the liver with steatosis. We here intended to investigate the role of ApoA-1 in regeneration of small-for-size fatty liver graft and to explore the underlying mechanism. METHODS: The association of ApoA-1 expression with liver regeneration was studied in rat liver transplantation models using small-for-size normal graft or small-for-size fatty graft...
December 15, 2018: Life Sciences
(no author information available yet)
No abstract text is available yet for this article.
November 22, 2018: Journal of Medical Genetics
William R Lovallo, Andrew J Cohoon, Ashley Acheson, Kristen H Sorocco, Andrea S Vincent
BACKGROUND AND AIMS: Persons with blunted stress reactivity have poor impulse control and also show increased risk for alcoholism. Exposure to early life adversity (ELA) contributes to blunted reactivity, but individual differences in susceptibility to ELA are not well understood. This study aimed to determine whether exposure to ELA has a greater impact on stress reactivity in young adults with a family history of alcoholism (FH+) compared with young adults with no family history of alcoholism (FH-)...
November 21, 2018: Addiction
Steve E Humphries, Jackie A Cooper, Nigel Capps, Paul N Durrington, Ben Jones, Ian F W McDowell, Handrean Soran, Andrew H W Neil
BACKGROUND AND AIMS: The International Atherosclerosis Society (IAS) has proposed that patients with "severe" FH (SFH) would warrant early and more aggressive cholesterol-lowering treatment such as with PCSK9 inhibitors. SFH is diagnosed if LDL-cholesterol (LDLC) > 10 mmol/L, or LDLC >8.0 mmol/L plus one high-risk feature, or LDLC >5 mmol/L plus two high-risk features. Here we compare CHD mortality in SFH and non-SFH (NSFH) patients in the UK prospective Simon Broome Register since 1991, when statin use became routine...
November 12, 2018: Atherosclerosis
Sock Hoai Chan, Winston Chew, Nur Diana Binte Ishak, Weng Khong Lim, Shao-Tzu Li, Sheng Hui Tan, Jing Xian Teo, Tarryn Shaw, Kenneth Chang, Yong Chen, Prasad Iyer, Enrica Ee Kar Tan, Michaela Su-Fern Seng, Mei Yoke Chan, Ah Moy Tan, Sharon Yin Yee Low, Shui Yen Soh, Amos Hong Pheng Loh, Joanne Ngeow
Assessment of cancer predisposition syndromes (CPS) in childhood tumours is challenging to paediatric oncologists due to inconsistent recognizable clinical phenotypes and family histories, especially in cohorts with unknown prevalence of germline mutations. Screening checklists were developed to facilitate CPS detection in paediatric patients; however, their clinical value have yet been validated. Our study aims to assess the utility of clinical screening checklists validated by genetic sequencing in an Asian cohort of childhood tumours...
2018: NPJ Genomic Medicine
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