Search Results - Médecine & hygiène

Genome wide analysis in a discordant monozygotic twin with caudal appendage and multiple congenital anomalies by Cogulu, O, Pariltay, E, Koroglu, O A, Aykut, A, Ozyurek, R, Levent, E, Kultursay, N, Ozkinay, F

“…Caudal appendage is a rare dysmorphic feature of which etiologic mechanisms are not well understood. Here we report monozygotic (MZ) twin brothers who are…”
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Partial trisomy 3p24.3 and partial monosomy 5p15.33: case report and a literature review by Puvabanditsin, S, Memon, N, Lambert, G, Cross, G, El-Khawam, R, Botti, C, Balbin, J

“…We report on a preterm neonate with a deletion of the distal short arm of chromosome 5p15.33 and partial trisomy of the distal short arm of chromosome 3p24.3…”
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Partial trisomy 2p24-->pter and monosomy 18q22.1- qter resulting from parental translocation by Atik, T, Durmaz, B, Yorganci, O U, Cogulu, O, Kioutsouk, M, Ozkinay, F

“…This is a report of a 6 month-old boy with a partial trisomy 2p24-->pter and monosomy 18q22-->qter. This is the first case presenting this unbalanced…”
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Unilateral renal vein thrombosis in a newborn heterozygous of the factor II G20210A and PAI-1 4G/5G gene mutation by Sandal, G, Kuybulu, A E, Ayata, A

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Improved bioavailability of orally administered andrographolide from pH-sensitive nanoparticles by Chellampillai, Bothiraja, Pawar, Atmaram Pandurang

“…Andrographolide, a major bioactive phytoconstituent derived from Androgaphis paniculata that is safe and beneficial in several ailments, was formulated into…”
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Probiotics decreased the bioavailability of the bile acid analog, monoketocholic acid, when coadministered with gliclazide, in healthy but not diabetic rats by Al-Salami, Hani, Butt, Grant, Tucker, Ian, Golocorbin-Kon, Svetlana, Mikov, Momir

“…In recent studies we showed that gliclazide has no hypoglycemic effect on type 1 diabetic (T1D) rats while MKC does, and their combination exerted a better…”
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Genomic damage in patients with type-2 diabetes mellitus by Binici, D N, Karaman, A, Coşkun, M, Oğlu, A Uyanik, Uçar, F

“…DNA damage seems to play a role in the pathogenesis of type-2 diabetes mellitus (DM2) and its complications. Several in vitro assays have been used to measure…”
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A novel mutation of laminin β-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period by Aydin, B, Ipek, M S, Ozaltin, F, Zenciroğlu, A, Dilli, D, Beken, S, Okumuş, N, Hoşağasi, N, Saygili-Karagöl, B, Kundak, A, Renda, R, Aydog, O

“…Pierson syndrome is a rare autosomal recessive disorder which is mainly characterized by congenital nephrotic syndrome (CNS), diffuse mesangial sclerosis (DMS)…”
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The role of the protein-binding on the mode of drug action as well the interactions with other drugs by Tesseromatis, Christine, Alevizou, Anastasia

“…Summary Drug transport and disposition are influenced by a non-specific and reversible drug binding to plasma and tissues proteins. Albumin and al acid…”
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Chemical inhibitors of cytochrome P450 isoforms in human liver microsomes: a re-evaluation of P450 isoform selectivity by Khojasteh, Siamak Cyrus, Prabhu, Saileta, Kenny, Jane R., Halladay, Jason S., Lu, Anthony Y. H.

“…The majority of marketed small-molecule drugs undergo metabolism by hepatic Cytochrome P450 (CYP) enzymes (Rendic 2002 ). Since these enzymes metabolize a…”
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A case report of rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome and mediastinal germ cell tumor by Song, J S, Lee, S H, Jin, D K, Kim, S H

“…Klinefelter syndrome (KS) is a common sex chromosome disorder and is characterized by small, firm testes with hyalinization of the seminiferous tubules,…”
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First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene by Avdjieva-Tzavella, D M, Ivanova, M B, Todorov, T P, Todorova, A P, Panteleeva, E I, Tincheva, S S, Lazarova, E A, Kathom, H M, Yaneva, P G, Tincheva, R S

“…Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene and has three phenotypes: neonatal intrahepatic cholestasis…”
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Duchenne muscular dystrophy in a developing country: challenges in management and genetic counseling by López-Hernández, L B, Gómez-Díaz, B, Escobar-Cedillo, R E, Gama-Moreno, O, Camacho-Molina, A, Soto-Valdés, D M, Anaya-Segura, M A, Luna-Padrón, E, Zúñiga-Guzmán, C, Lopez-Hernández, J A, Vázquez-Cárdenas, N A, Sánchez-Chapul, L, Rangel-Villalobos, H, Canto, P, López-Cardona, M G, García, S, Méndez-Covarrubias, G, Coral-Vázquez, R M

“…Multidisciplinary management of Duchenne Muscular Dystrophy (DMD) has achieved outstanding results in developed nations. We aimed to describe the status of…”
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Effects of myricetin, an anticancer compound, on the bioavailability and pharmacokinetics of tamoxifen and its main metabolite, 4-hydroxytamoxifen, in rats by Li, Cheng, Lim, Sung-Cil, Kim, Jin, Choi, Jun-Shik

“…This study examined the effect of myricetin, an anticancer compound, on the bioavailability and pharmacokinetics of tamoxifen and its metabolite,…”
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Evaluation of the pharmacokinetic interaction after multiple oral doses of linagliptin and digoxin in healthy volunteers by Friedrich, C., Ring, A., Brand, T., Sennewald, R., Graefe-Mody, E. U., Woerle, H.-J.

“…The aim of this study was to investigate whether multiple doses of the oral and highly selective dipeptidyl peptidase-4 inhibitor linagliptin affect the…”
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Formulation and evaluation of micro hydrogel of Moxifloxacin hydrochloride by Nanjwade, Basavaraj K., Deshmukh, Rucha V., Gaikwad, Kishori R., Parikh, Kemy A., Manvi, F. V.

“…The field of ocular drug delivery is one of the interesting and challenging endeavors facing the pharmaceutical scientist. Novel approaches for ophthalmic drug…”
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Preclinical pharmacokinetics and pharmacodynamics of apixaban, a potent and selective factor Xa inhibitor by He, Kan, Luettgen, Joseph M., Zhang, Donglu, He, Bing, Grace, James E., Xin, Baomin, Pinto, Donald J. P., Wong, Pancras C., Knabb, Robert M., Lam, Patrick Y. S., Wexler, Ruth R., Grossman, Scott J.

“…Apixaban is a potent, highly selective, reversible, oral, direct factor Xa (fXa) inhibitor in development for thrombosis prevention and treatment. The…”
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Association of interleukin-1 beta (+3954) gene polymorphism and gingival crevicular fluid levels in patients with aggressive and chronic periodontitis by Yücel, O Ozer, Berker, E, Mescil, L, Eratalay, K, Tepe, E, Tezcan, I

“…The immune mechanisms and genetic variations that regulate genetic expression, production and biological activity of IL-1beta, are thought to play an important…”
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Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings by Mesens, T, Witters, I, Van Robaeys, J, Peeters, H, Fryns, J P

“…Congenital High Airway Obstruction Syndrome (CHAOS) is a potential lethal condition. We describe a case report of CHAOS, with additional malformations…”
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VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin by Sandal, G, Aslan, N, Duman, L, Ormeci, A R

“…The VATER/VACTERL association is typically defined by the presence of at least three of the following congenital malformations: vertebral anomalies, anal…”
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