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https://www.readbyqxmd.com/read/27933557/atypical-presentation-and-treatment-response-in-a-child-with-familial-hypercholesterolemia-having-a-novel-ldlr-mutation
#1
S Varma, A D McIntyre, R A Hegele
Familial hypercholesterolemia (FH) is an autosomal codominantly inherited disease. The severity of clinical presentation depends on the zygosity of the mutations in the LDLR, APOB, or PCSK9 genes. The homozygous form (HoFH) is associated with high mortality rate by third decade of life, while individuals with HeFH begin to suffer from premature cardiovascular disease in fourth or fifth decade of life. Statin drugs have helped to improve the biochemical profile and life expectancy in HeFH, while they are only minimally effective in HoFH...
December 9, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27933225/rational-design-of-dual-active-sites-in-a-single-protein-scaffold-a-case-study-of-heme-protein-in-myoglobin
#2
Xiao-Gang Shu, Ji-Hu Su, Ke-Jie Du, Yong You, Shu-Qin Gao, Ge-Bo Wen, Xiangshi Tan, Ying-Wu Lin
Rational protein design has been proven to be a powerful tool for creating functional artificial proteins. Although many artificial metalloproteins with a single active site have been successfully created, those with dual active sites in a single protein scaffold are still relatively rare. In this study, we rationally designed dual active sites in a single heme protein scaffold, myoglobin (Mb), by retaining the native heme site and creating a copper-binding site remotely through a single mutation of Arg118 to His or Met...
June 2016: ChemistryOpen
https://www.readbyqxmd.com/read/27933174/a-case-of-hepatitis-c-associated-osteosclerosis-accelerated-bone-turnover-controlled-by-pulse-steroid-therapy
#3
Nobuhiro Miyamura, Shuhei Nishida, Mina Itasaka, Hirofumi Matsuda, Takeshi Ohtou, Yasuhiro Yamaguchi, Daisuke Inaba, Sadahiro Tamiya, Tetsuo Nakano
: Hepatitis C-associated osteosclerosis (HCAO), a very rare disorder in which an extremely rapid bone turnover occurs and results in osteosclerosis, was acknowledged in 1990s as a new clinical entity with the unique bone disorder and definite link to chronic type C hepatitis, although the pathogenesis still remains unknown. Affected patients suffer from excruciating deep bone pains. We report the 19th case of HCAO with diagnosis confirmed by bone biopsy, and treated initially with a bisphosphonate, next with corticosteroids and finally with direct acting antivirals (DAA: sofosbuvir and ribavirin) for HCV infection...
2016: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/27932899/sudden-cardiac-death-of-a-body-packer-due-to-cocaine-cardiotoxicity
#4
Parthasarathi Pramanik, Raghvendra Kumar Vidua
This article presents a case of sudden cardiac death due to the effects of cocaine concealed in the body of a male drug smuggler in his 40s, a so-called body packer. A total of 57 body packets filled with cocaine powder were discovered in his body cavities. The detailed autopsy examination, including histopathology and toxicology findings, is discussed with the aim of describing the mechanism of cocaine intoxication in the body packer and an analysis of cocaine-induced cardiotoxicity and sudden death.
2016: Clinical Medicine Insights. Pathology
https://www.readbyqxmd.com/read/27932889/alveolar-rhabdomyosarcoma-of-the-sphenoid-sinus-mimicking-optic-neuritis-presenting-with-intermittent-visual-loss-in-an-adult
#5
Wendong Liu, Libin Jiang, Yulan Jin, Bentao Yang, Timothy Yy Lai
A 23-year-old male with intermittent visual loss in his left eye for 4 months was originally treated as optic neuritis elsewhere. Upon presentation to our hospital (Beijing Tongren Hospital), his left eye visual acuity was reduced to hand motion at face. The left eye ocular motility was limited in upgaze, downgaze, adduction, and abduction. Computed tomography and magnetic resonance imaging revealed lesions in the sphenoid and ethmoid sinuses, orbital apex and carvernous sinus invading adjacent extraocular muscles...
2016: OncoTargets and Therapy
https://www.readbyqxmd.com/read/27932186/late-graft-rejection-in-association-with-t-large-granular-lymphocyte-expansion-of-recipient-origin-after-human-leukocyte-antigen-haploidentical-stem-cell-transplantation-a-case-report
#6
N Nakagawa, H Yamazaki, G Aoki, Y Kondo, S Nakao
BACKGROUND: Large granular lymphocyte (LGL) expansion occasionally occurs after allogeneic stem cell transplantation (allo-SCT), and is thought to be a good prognostic sign that is associated with a lower relapse rate. However, there have been no reports of late graft failure (LGF) due to graft rejection in association with oligoclonal LGL expansion. We herein report a case of LGF associated with the transient expansion of recipient-derived T-LGL after allo-SCT. CASE REPORT: A 65-year-old man underwent peripheral blood stem cell transplantation (PBSCT) from his human leukocyte antigen (HLA)-haploidentical son for the treatment of acute myeloid leukemia, which had evolved from a myelodysplastic syndrome (MDS)...
November 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27932184/intrapancreatic-splenule-in-a-pancreas-allograft-case-report
#7
K Yadav, O K Serrano, R Kandaswamy
A 16-year-old white man was involved in a motor vehicle collision and suffered head, chest, and abdominal trauma. Despite initial resuscitative efforts, he progressed to brain death and was designated to be an organ donor by his family. He had no earlier medical or surgical history and no high-risk behaviors. Blood work revealed normal creatinine, liver function tests, lipase, and amylase. Viral serologies were negative except for cytomegalovirus IgG and Epstein-Barr virus nucleic acid. Imaging revealed a right kidney contusion, a manubrial fracture, and fractures of right first rib and bilateral scapulae...
November 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27932180/liver-transplant-recipient-with-tumefactive-demyelinating-lesions-a-case-report-and-literature-review
#8
D-L Wan, K-W Ren, L-L Zhang, B Wang, Z L Zhai, X-Y Zhang, Y-C Yang, S-S Zheng
Tumefactive demyelinating lesions (TDLs) that may resemble brain neoplasms or abscesses are uncommon but noteworthy. A solid knowledge of how to distinguish TDLs from malignancy or infection is a key step to avoid unnecessary medical or surgical interventions. Almost all the intracranial demyelination diseases after liver transplantation (LT) refer to central pontine myelinolysis or extrapontine myelinolysis; TDLs after LT have never been reported. In 2005, a 45-year-old Chinese male underwent orthotopic LT due to "acute on chronic liver failure" in our hospital...
November 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27932174/salvage-splenic-artery-embolization-for-saving-falling-living-donor-graft-due-to-portal-overflow-a-case-report
#9
H Okabe, T Yoshizumi, T Ikegami, H Uchiyama, N Harimoto, S Itoh, K Kimura, H Baba, Y Maehara
Portal decompression is an approach for reducing portal overflow caused by small-for-size syndrome. We report the case of a patient who recovered from rapidly progressing hyperbilirubinemia caused by a small graft by decompressing portal overflow with splenic artery embolization following a living donor liver transplantation (LDLT). The patient was a 54-year-old man with end-stage liver disease secondary to alcoholic liver cirrhosis; the donor was his 54-year-old wife. The graft volume of the left lobe was 444 mL, which was 34...
November 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27932164/retzius-space-preservation-technique-for-robotic-assisted-laparoscopic-radical-prostatectomy-in-a-kidney-transplant-patient-first-case-in-thailand-and-our-first-experience
#10
P Jenjitranant, P Sangkum, P Sirisreetreerux, W Viseshsindh, S Patcharatrakul, W Kongcharoensombat
OBJECTIVE: The aim of this work was to report our experience in robotic-assisted laparoscopic radical prostatectomy for the treatment of localized prostate cancer in a kidney transplant recipient. METHODS: A 73-year-old man with chronic renal failure underwent living-donor kidney transplantation (KT) in 1993. His baseline creatinine after KT was ∼1.2 mg/dL. He developed lower urinary tract symptoms in 1999. He was diagnosed with benign prostatic hyperplasia and treated accordingly...
November 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27932161/sofosbuvir-monotherapy-for-asymptomatic-and-noncirrhotic-hepatitis-c-infection-in-a-renal-retransplantation-recipient-a-case-report
#11
G Deng, J Ma, S Shen, Q Li, L Peng, S Meng, J Zhou, J Wu, D Liu
Renal transplant recipients infected with hepatitis C virus (HCV) have a high risk of progressing to cirrhosis, end-stage liver diseases, and hepatocellular carcinoma. It is also considered as an independent risk for graft loss and is correlated with proteinuria, transplant glomerulopathy, HCV-associated glomerulonephritis, and chronic rejection. Previous therapy involving interferon alfa and ribavirin led to treatment complications, including toxicity, anemia, sepsis, and drug-drug interactions with calcineurin inhibitors, as well as reduced tolerability and efficacy...
November 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27932159/fulminant-clostridium-perfringens-sepsis-in-kidney-transplant-a-case-report
#12
P Mihaylov, J A Powelson, W C Goggins
BACKGROUND: Infections, particularly urinary tract infections, and cardiovascular accidents are the main causes of morbidity and mortality during the 1st year after kidney transplantation (KT). Bacteria and viruses, such as Escherichia coli, Enteroccoci, and Polyoma BK virus are common in the 1st 6 months, so they are controlled routinely. On the other hand, Clostridium perfringens infection is a rare life-threatening condition, associated with a high mortality rate especially in the transplant population, that is not controlled routinely...
November 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27932153/a-heartbreaking-renal-transplantation-is-norepinephrine-the-culprit-to-blame
#13
M G Vailas, S Vernadakis, K Kakavia, I Paizis, J Bokos, J Boletis, G Zavos
INTRODUCTION: Takotsubo cardiomyopathy (TCM), also known as "broken heart syndrome," "apical ballooning syndrome," and "stress-induced cardiomyopathy," was first described in Japanese patients in 1990 by Sato et al. TCM is an increasingly recognized syndrome characterized by transient and reversible systolic dysfunction of the apical and middle segments of the left ventricle. This syndrome resembles acute myocardial infarction in the absence of evident coronary artery occlusion. Herein, we present a case of a 51-year-old male who underwent his second deceased-donor renal transplantation for end-stage-renal-disease due to a work-related accident...
November 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27932152/successful-second-allogeneic-stem-cell-transplantation-from-a-sibling-donor-for-relapse-of-myelodysplastic-syndrome-in-a-recipient-of-a-renal-transplant-from-his-mother-case-report
#14
M Ikeda, N Tsukada, H Chikai, M Tasaki, K Saito, Y Nakagawa, K Takahashi, K Suzuki
There have been few reports on allogeneic stem cell transplantation in patients who have previously undergone solid organ transplantation. The clinical course of such patients is not yet well recognized. Therefore, appropriate immunosuppressive prophylaxis for the rejection of a solid organ graft or for graft-versus-host disease has not yet been established. We present the case of a successful allogeneic stem cell transplantation in a patient who relapsed after a first allogeneic stem cell transplantation for myelodysplastic syndrome and who had previously undergone renal transplantation...
November 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27932080/vitamin-c-impacts-anxiety-like-behavior-and-stress-induced-anorexia-relative-to-social-environment-in-smp30-gnl-knockout-mice
#15
Miwako Koizumi, Yoshitaka Kondo, Ayumi Isaka, Akihito Ishigami, Emiko Suzuki
The role of endogenous vitamin C (VC) in emotion and psychiatric measures has long been uncertain. We aimed to investigate how an individual's VC status impacts his or her mental health. Our hypothesis is that body VC levels modulate anxiety, anorexia, and depressive phenotypes under the influence of psychosocial rearing environments and sex. The VC status of senescence marker protein-30/gluconolactonase knockout mice, which lack the ability to synthesize VC, were continuously shifted from adequate (VC+) to depleted (VC-) by providing a water with or without VC...
November 17, 2016: Nutrition Research
https://www.readbyqxmd.com/read/27931645/haemodynamic-coherence%C3%A2-%C3%A2-the-relevance-of-fluid-therapy
#16
REVIEW
Philip Arnemann, Laura Seidel, Christian Ertmer
The ultimate goal of fluid therapy is to improve the oxygenation of cells by improving the cardiac output, thus improving microcirculation by optimizing macrocirculation. This haemodynamic coherence is often altered in patients with haemorrhagic shock and sepsis. The loss of haemodynamic coherence is associated with adverse outcomes. It may be influenced by the mechanisms of the underlying disease and properties of different fluids used for resuscitation in these critically ill patients. Monitoring microcirculation and haemodynamic coherence may be an additional tool to predict the response to fluid administration...
December 2016: Best Practice & Research. Clinical Anaesthesiology
https://www.readbyqxmd.com/read/27931024/acoustic-characteristics-of-long-calls-produced-by-male-orang-utans-pongo-pygmaeus-wurmbii-advertising-individual-identity-context-and-travel-direction
#17
James A Askew, Helen C Morrogh-Bernard
Acoustic characteristics and context of the long-distance call of male orang-utans (Pongo pygmaeus wurmbii) were examined in a population of orang-utans from Central Kalimantan, Borneo. Male orang-utans produced long calls under different circumstances, including calls made spontaneously, in response to conspecifics, when accompanied by a snag crash and when travelling with a female. It was shown by acoustic analyses that there was individual discrimination between the male's calls, discrimination between the calls made under different contexts, and between calls from one individual from different years, which coincided with a change in his dominance status...
December 9, 2016: Folia Primatologica; International Journal of Primatology
https://www.readbyqxmd.com/read/27930892/novel-approaches-in-pilonidal-sinus-treatment
#18
REVIEW
Arda Isik, Oguz Idiz, Deniz Firat
Pilonidal sinus is a very common inflammatory disease of the gluteal region. The ideal method of pilonidal sinus treatment should have a low recurrence rate with minimum excision. Moreover, the treatment method should have a short hospitalization time, should let the patient return to his normal life rapidly, should cause minimum loss of labour and should result a small scar only. In the presented review, modalities in pilonidal sinus treatment in the light of current information in the literature are evaluated...
2016: Prague Medical Report
https://www.readbyqxmd.com/read/27930886/histone-adduction-and-its-functional-impact-on-epigenetics
#19
James J Galligan, Lawrence J Marnett
Bioactive electrophiles generated from the oxidation of endogenous and exogenous compounds are a contributing factor in numerous disease states. Their toxicity is largely attributed to the covalent modification of cellular nucleophiles, including protein and DNA. With regard to protein modification, the side-chains of Cys, His, Lys, and Arg residues are critical targets. This results in the generation of undesired protein post-translational modifications (PTMs), that can trigger dire cellular consequences. Notably, histones are Lys- and Arg-rich proteins, providing a fertile source for adduction by both exogenous and endogenous electrophiles...
December 8, 2016: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/27930647/allelic-variation-in-cxcl16-determines-cd3-t-lymphocyte-susceptibility-to-equine-arteritis-virus-infection-and-establishment-of-long-term-carrier-state-in-the-stallion
#20
Sanjay Sarkar, Ernest Bailey, Yun Young Go, R Frank Cook, Ted Kalbfleisch, John Eberth, R Lakshman Chelvarajan, Kathleen M Shuck, Sergey Artiushin, Peter J Timoney, Udeni B R Balasuriya
Equine arteritis virus (EAV) is the causative agent of equine viral arteritis (EVA), a respiratory, systemic, and reproductive disease of horses and other equid species. Following natural infection, 10-70% of the infected stallions can become persistently infected and continue to shed EAV in their semen for periods ranging from several months to life. Recently, we reported that some stallions possess a subpopulation(s) of CD3+ T lymphocytes that are susceptible to in vitro EAV infection and that this phenotypic trait is associated with long-term carrier status following exposure to the virus...
December 2016: PLoS Genetics
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