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Aoyuan Fan, Tianyang Xu, Xifan Li, Lei Li, Lin Fan, Dong Yang, Guodong Li
BACKGROUND: Restoring the normal joint line (JL) is an important goal to achieve in total knee arthroplasty (TKA). We intended to study the veracity of several landmarks used to level the normal JL in Chinese people. METHODS: Two hundred fifteen standard CT scans of knee joint were included to measure the distances from landmarks to distal JL (DJL) and posterior JL (PJL), along with femoral width (FW) in order to calculate the ratios. Landmarks included adductor tubercle (AT), medial epicondyle (ME), lateral epicondyle (LE), tibial tubercle (TT), fibular head (FH) and the inferior pole of the patella (IPP)...
October 19, 2018: Journal of Orthopaedic Surgery and Research
Irene Shyu, Leili Mirsadraei, Xiaoyan Wang, Valentina Robila, Rohit Mehra, Jonathan B McHugh, Ying-Bei Chen, Aaron M Udager, Anthony J Gill, Liang Cheng, Mahul B Amin, Oscar Lin, Steven Christopher Smith
BACKGROUND: Fumarate hydratase (FH)-deficient renal cell carcinoma (RCC) is rare and highly aggressive and is believed to arise mostly in the setting of hereditary leiomyomatosis-RCC syndrome with a germline mutation of FH. Because of the aggressiveness of these tumors and a frequent lack of ascertainable family history, these tumors may first present as metastases and be sampled by cytology. The cytologic findings of FH-deficient RCC have not previously been reported. METHODS: Cytologic and limited biopsy samples from patients with FH-deficient RCC were reviewed retrospectively...
October 19, 2018: Cancer Cytopathology
Y-J Hu, H-P Zhang, B Zhu, H-Y Chen, L-H Ma, Y Wang
OBJECTIVE: Cervical cancer is a common type in gynecologic malignant tumor that accounts for the leading morbidity only after breast cancer in female. This study aims to determine the diagnostic significance of uterine epithelial cells stability free body of iron protoporphyrin reduced state (FH) detection combined human papillomavirus (HPV) screening for cervical cancer. PATIENTS AND METHODS: A total of 800 patients were enrolled. FH test and HPV genotyping detection were performed...
October 2018: European Review for Medical and Pharmacological Sciences
Hongyu Kuang, Xue Zhou, Li Li, Qijian Yi, Weinian Shou, Tiewei Lu
RATIONALE: Familial hypercholesterolemia (FH) is a common inherited cause of coronary heart disease (CHD) and premature death in an early age. Nevertheless, an ischemic heart failure (IHF) associated with FH seems to be rare, and an early diagnosis and therapy could influence the prognosis. PATIENT CONCERNS: In this 13-year-old girl, multiple xanthomas began to develop from the first day of birth. Until June, 2017, she was admitted to our center due to edema, oliguria, and dyspnea during exertion, which was attributed to a recent respiratory infection...
October 2018: Medicine (Baltimore)
Jason A Davis, Geoffrey Rohlfing, Kenan Sagouspe, Maximino Brambila
INTRODUCTION: The purpose of this study was to evaluate the efficacy of routine pathologic examination (PE) of femoral head (FH) specimens after arthroplasty for acute femoral neck fractures and to determine the cost. METHODS: This was a retrospective chart review of 850 acute femoral neck fractures treated with hemiarthroplasty or total hip arthroplasty These were evaluated to determine whether the FH was sent for PE, the resultant findings, alterations in medical treatment, and cost...
October 16, 2018: Journal of the American Academy of Orthopaedic Surgeons
Sophie Chauvet, Lubka T Roumenina, Pierre Aucouturier, Maria-Chiara Marinozzi, Marie-Agnès Dragon-Durey, Alexandre Karras, Yahsou Delmas, Moglie Le Quintrec, Dominique Guerrot, Noémie Jourde-Chiche, David Ribes, Pierre Ronco, Frank Bridoux, Véronique Fremeaux-Bacchi
C3 glomerulopathy (C3G) results from acquired or genetic abnormalities in the complement alternative pathway (AP). C3G with monoclonal immunoglobulin (MIg-C3G) was recently included in the spectrum of "monoclonal gammopathy of renal significance." However, mechanisms of complement dysregulation in MIg-C3G are not described and the pathogenic effect of the monoclonal immunoglobulin is not understood. The purpose of this study was to investigate the mechanisms of complement dysregulation in a cohort of 41 patients with MIg-C3G...
2018: Frontiers in Immunology
A Benito-Vicente, K B Uribe, H Siddiqi, S Jebari, U Galicia-Garcia, A Larrea-Sebal, A Cenarro, M Stef, H Ostolaza, F Civeira, L Palacios, C Martin
BACKGROUND AND AIMS: Pathogenic mutations in the Low Density Lipoprotein Receptor gene (LDLR) cause Familial Hypercholesterolemia (FH), one of the most common genetic disorders with a prevalence as high as 1 in 200 in some populations. FH is an autosomal dominant disorder of lipoprotein metabolism characterized by high blood cholesterol levels, deposits of cholesterol in peripheral tissues such as tendon xanthomas and accelerated atherosclerosis. To date, 2500 LDLR variants have been identified in the LDLR gene; however, only a minority of them have been experimentally characterized and proven to be pathogenic...
2018: PloS One
Satnam Singh, Suneet Pandher, Mridula Gupta, Gurmeet Kaur, Pankaj Rathore
Phenacoccus solenopsis, the cotton mealybug (Hemiptera: Pseudococcidae), is one of the major cotton pests in India. Scanty information is available on molecular studies in this insect due to limited genomic or transcriptomic sequence data. With advancement in sequencing technology, enormous genomic and sequencing data are being generated, and RNAi studies are being undertaken in insects, which require reverse transcription quantitative polymerase chain reaction evaluation. These gene expression studies require normalization of mRNA levels with reference genes to account for sample variability...
October 17, 2018: Journal of Economic Entomology
Hyunkyu Sang, Alexander Witte, Janette L Jacobs, Hao-Xun Chang, Jie Wang, Mitchell G Roth, Martin I Chilvers
The succinate dehydrogenase inhibitor (SDHI) fungicide, fluopyram, is used as a soybean seed treatment to manage Fusarium virguliforme , the casual agent of sudden death syndrome (SDS). More recently, other species within clade 2 of the Fusarium solani species, F. tucumaniae in South America and F. brasiliense in America and Africa, have been recognized as additional agents capable of causing SDS. To determine if fluopyram could be used for management of SDS caused by these species, in vitro sensitivity tests of the three Fusarium species to fluopyram were conducted...
2018: Frontiers in Microbiology
Ahmad Hassan, Ronen Jaffe, Ronen Rubinshtein, Basheer Karkabi, David A Halon, Moshe Y Flugelman, Barak Zafrir
BACKGROUND: Contemporary data on clinical profiles and long-term outcomes of young adults with coronary artery disease (CAD) are limited. OBJECTIVES: To determine the risk profile, presentation, and outcomes of young adults undergoing coronary angiography. METHODS: A retrospective analysis (2000-2017) of patients aged ≤ 35 years undergoing angiography for evaluation and/or treatment of CAD was conducted. RESULTS: Coronary angiography was performed in 108 patients (88% males): 67 acute coronary syndrome (ACS) and 41 non-ACS chest pain syndromes...
October 2018: Israel Medical Association Journal: IMAJ
A Pali S Hungin, Michael Molloy-Bland, Carmelo Scarpignato
The Montreal definition of gastroesophageal reflux disease (GERD) provided a rationale for acid suppression medication without investigation, thus enhancing the management of the substantial symptom burden in these patients. Increased proton-pump inhibitor use has also highlighted their limitations, with one third of "typical" symptoms known to be refractory. Most refractory symptoms are ascribed to reflux hypersensitivity (RH) and functional heartburn (FH). RH may be caused by impaired esophageal mucosal barrier function and sensitization of peripheral esophageal receptors...
October 15, 2018: American Journal of Gastroenterology
Martine Paquette, Sophie Bernard, Isabelle Ruel, David W Blank, Jacques Genest, Alexis Baass
BACKGROUND: Familial hypercholesterolemia (FH) is the most common genetic disorder of lipoprotein metabolism, affecting 1:250 individuals worldwide. This monogenic disease is associated with lifelong elevation in circulating low-density lipoprotein cholesterol and premature cardiovascular disease (CVD). In 2016, the estimated prevalence of diabetes in Canada was 9%. In the FH population, little is known about the prevalence of diabetes and its impact on CVD risk. OBJECTIVE: The objectives of this study were to investigate the prevalence of diabetes among a large cohort of FH patients and to investigate the association between diabetes and CVD risk...
September 17, 2018: Journal of Clinical Lipidology
Panagiotis Anagnostis, Pavlos Siolos, Dimitrios Krikidis, Dimitrios G Goulis, John C Stevenson
BACKGROUND: Familial hypercholesterolaemia (FH) is a genetically determined lipid disorder, affecting 1 per 200-500 individuals in the general population. It is significantly and independently associated with increased risk of cardiovascular disease (CVD), although it remains still an underrecognized and undertreated disease. Lipoprotein (a) [Lp(a)] is a low-density-lipoprotein (LDL)-like molecule, containing an additional protein, apolipoprotein (a). OBJECTIVE: This review aims to present and discuss available data on the role of Lp(a) in patients with FH, in terms of its potential augmentation of CVD risk...
October 10, 2018: Current Pharmaceutical Design
Vasilios Papademetriou, Konstantinos Stavropoulos, Christodoulos Papadopoulos, Konstantinos Koutsampasopoulos, Kiriakos Dimitriadis, Kostas Tsioufis
BACKGROUND: Familial hypercholesterolemia (FH) is an inherited autosomal dominant disorder that is characterized by substantially increased low-density lipoprotein cholesterol (LDL-C) levels. Patients with FH have a significantly higher risk for cardiovascular (CV) events, and the timely reduction of LDL-C is of paramount importance to ameliorate the risk for CV disease. Among the available lipid-lowering therapies, the novel proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors have emerged as a very promising class of drugs for the management of such patients...
October 10, 2018: Current Pharmaceutical Design
Justyna Augustyniak, Jacek Lenart, Paweł Gaj, Monika Kolanowska, Krystian Jazdzewski, Piotr Pawel Stepien, Leonora Buzanska
Bezafibrate (BZ) regulates mitochondrial biogenesis by activation of PPAR's receptors and enhancing the level of PGC-1α coactivator. In this report, we investigated the effect of BZ on the expression of genes (1) that are linked to different pathways involved in mitochondrial biogenesis, e.g., regulated by PPAR's receptors or PGC-1α coactivator, and (2) involved in neuronal or astroglial fate, during neural differentiation of hiPSC. The tested cell populations included hiPSC-derived neural stem cells (NSC), early neural progenitors (eNP), and neural progenitors (NP)...
October 13, 2018: Molecular Neurobiology
Daiana Ibarretxe, Cèlia Rodríguez-Borjabad, Albert Feliu, José Ángel Bilbao, Lluís Masana, Núria Plana
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is underdiagnosed in children. We assessed a combination of two screening methods. The first method was to detect hypercholesteraemic children and then study the parents (Ch-P pathway), and the second one was to study the offspring of FH-affected parents (P-Ch pathway). METHODS: In the Ch-P path, primary care paediatricians were asked to include lipid profiling or, at least, total cholesterol (TC) and then lipid profiling if TC was higher than 5...
October 1, 2018: Atherosclerosis
Michael A Iacocca, Joana R Chora, Alain Carrié, Tomáš Freiberger, Sarah E Leigh, Joep C Defesche, C Lisa Kurtz, Marina T DiStefano, Raul D Santos, Steve E Humphries, Pedro Mata, Cinthia E Jannes, Amanda J Hooper, Katherine A Wilemon, Pascale Benlian, Robert O'Connor, John Garcia, Hannah Wand, Lukáš Tichy, Eric J Sijbrands, Robert A Hegele, Mafalda Bourbon, Joshua W Knowles
Accurate and consistent variant classification is imperative for incorporation of rapidly developing sequencing technologies into genomic medicine for improved patient care. An essential requirement for achieving standardized and reliable variant interpretation is data sharing, facilitated by a centralized open-source database. Familial hypercholesterolemia (FH) is an exemplar of the utility of such a resource: it has a high incidence, a favorable prognosis with early intervention and treatment, and cascade screening can be offered to families if a causative variant is identified...
November 2018: Human Mutation
Alejandro Parra-Virto, Ana Torres do Rego, Pablo Demelo-Rodríguez, Jesús Millán Núñez-Cortés, Luis A Álvarez-Sala
Many patients with familial hypercholesterolaemia (FH) or in secondary prevention situations and with statin intolerance do not achieve LDL-C targets, and require treatment with PCSK9 inhibitors (iPCSK9) and ezetimibe. The case is presented on a patient with FH and total intolerance to statins. Treatment with iPCSK9 and ezetimibe failed to achieve her LDL-C target. A compound with red yeast rice derivatives containing 3mg of monacolin K was added, with good therapeutic compliance, and a very good control of LDL-C...
October 8, 2018: Clínica e Investigación en Arteriosclerosis
Li Zhang, Liang Chen, Guoxin Huang, Fei Liu
Gibberellic acid (GA3 ) is a widely used plant growth regulator and environmental toxin especially in China, but no study has focused on the mechanism of the interactions between GA3 and minerals/soils. In this study, the GA3 surface complexation mechanism on ferrihydrite (Fh) was investigated by combining sorption-desorption batch experiments with Fourier transform infrared (FTIR) spectroscopy and moving-window two-dimensional (MW2D) correlation spectroscopy. The results showed that the Fh-GA3 surface complexes and retention after desorption depended strongly on the pH...
February 10, 2019: Science of the Total Environment
Francisco Blanco-Vaca, Jesús M Martín-Campos, Antonio Pérez, Pablo Fuentes-Prior
Autosomal dominant hypercholesterolemia, being referred to as familial hypercholesterolemia (FH), is mainly due to defective LDL receptor (LDLR) function, but is also associated with variants in genes encoding APOB (LDLR ligand) and PCSK9, the catabolic regulator of LDLR. The signal-transducing adaptor family member 1 (STAP1) gene has been recently linked to FH. We describe the case of a 56-year-old male patient found to have hypercholesterolemia at age 34, but who did not continue follow-up nor received treatment with lipid-lowering drugs...
October 9, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
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