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https://www.readbyqxmd.com/read/28102862/mutation-spectrum-in-the-abcc6-gene-and-genotype-phenotype-correlations-in-a-french-cohort-with-pseudoxanthoma-elasticum
#1
Anne Legrand, Laurence Cornez, Wafa Samkari, Jean-Michael Mazzella, Annabelle Venisse, Valérie Boccio, Karine Auribault, Boris Keren, Karelle Benistan, Dominique P Germain, Michael Frank, Xavier Jeunemaitre, Juliette Albuisson
PURPOSE: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by variants in the ABCC6 gene. Ectopic mineralization of connective tissues leads to skin, eye, and cardiovascular manifestations with considerable phenotypic variability of unknown cause. We aimed to identify genotype-phenotype correlations in PXE. METHODS: A molecular analysis was performed on 458 French PXE probands clinically evaluated using the Phenodex score (PS). Variant topographic analysis and genotype-phenotype correlation analysis were performed according to the number and type of identified variants...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102814/successful-induction-of-peritoneal-dialysis-in%C3%A2-a%C3%A2-patient-with-massive-hydrothorax-due-to%C3%A2-pleuroperitoneal-communication%C3%A2
#2
Takahiro Uchida, Yuji Yamada, Toshihiko Imakiire, Naoki Oshima, Hiroo Kumagai
A 74-year-old woman with liver cirrhosis and chronic kidney disease (CKD) who had complained of chronic abdominal distension due to prominent ascites presented with sudden dyspnea. Chest radiography showed massive right pleural effusion that shifted the mediastinum. Peritoneal scintigraphy using 99mTc-macroaggregated albumin revealed pleuroperitoneal communication (PPC). As her hydrothorax was refractory and frequent thoracentesis did not improve her respiratory distress, thoracoscopic surgery was performed for repair of the diaphragm defect...
January 19, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28102772/an-extensive-suprarenal-inferior-vena-cava-thrombosis-successfully-treated-with-catheter-directed-thrombolysis-in-a-postpartum-14-year-old-girl
#3
Roxana Cristina Rimbas, Simona Ionela Călin, Horatiu Ionescu, Bogdan Dorobat, Dragos Vinereanu, Mircea Cinteza
We report a case of extensive early postpartum acute suprarenal inferior vena cava thrombosis in a 14-year-old girl. Management included catheter-directed-thrombolysis, aiming to save renal function and prevent fatal pulmonary embolism. Treatment decisions were mostly based on adult guidelines, as guidelines for the paediatric population are not yet available.
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January 19, 2017: VASA. Zeitschrift Für Gefässkrankheiten
https://www.readbyqxmd.com/read/28102613/congolese-children-with-sickle-cell-trait-may-exhibit-glomerular-hyperfiltration-a-case-control-study
#4
Michel Ntetani Aloni, René Makwala Ngiyulu, Célestin Ndosimao Nsibu, Pépé Mfutu Ekulu, Jean Robert Makulo, Jean-Lambert Gini-Ehungu, Nazaire Mangani Nseka, François Bompeka Lepira
BACKGROUND: The prevalence of sickle cell trait is extremely high in sub-Saharan Africa. Recent studies have reported the impact of sickle cell carriers on renal function. However, data on renal abnormalities in children with sickle cell trait in this part of the world are unknown. In this report, we assess the glomerular function of children with sickle cell trait (SCT). METHODS: A case control study was conducted to assess the glomerular function in 43 Congolese children with sickle cell trait (Hb-AS) matched for age to 65 children with sickle cell anemia in steady state (Hb-SS) and 67 normal controls (Hb-AA)...
January 19, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28102546/ataluren-and-similar-compounds-specific-therapies-for-premature-termination-codon-class-i-mutations-for-cystic-fibrosis
#5
REVIEW
Aisha A Aslam, Colin Higgins, Ian P Sinha, Kevin W Southern
BACKGROUND: Cystic fibrosis is a common life-shortening genetic disorder in the Caucasian population (less common in other ethnic groups) caused by the mutation of a single gene that codes for the production of the cystic fibrosis transmembrane conductance regulator protein. This protein coordinates the transport of salt (and bicarbonate) across cell surfaces and the mutation most notably affects the airways. In the lungs of people with cystic fibrosis, defective protein results in a dehydrated surface liquid and compromised mucociliary clearance...
January 19, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28102507/-44-sc-psma-617-for-radiotheragnostics-in-tandem-with-177-lu-psma-617-preclinical-investigations-in-comparison-with-68-ga-psma-11-and-68-ga-psma-617
#6
Christoph A Umbricht, Martina Benešová, Raffaella M Schmid, Andreas Türler, Roger Schibli, Nicholas P van der Meulen, Cristina Müller
BACKGROUND: The targeting of the prostate-specific membrane antigen (PSMA) is of particular interest for radiotheragnostic purposes of prostate cancer. Radiolabeled PSMA-617, a 1,4,7,10-tetraazacyclododecane-N,N',N'',N'''-tetraacetic acid (DOTA)-functionalized PSMA ligand, revealed favorable kinetics with high tumor uptake, enabling its successful application for PET imaging ((68)Ga) and radionuclide therapy ((177)Lu) in the clinics. In this study, PSMA-617 was labeled with cyclotron-produced (44)Sc (T 1/2 = 4...
December 2017: EJNMMI Research
https://www.readbyqxmd.com/read/28102436/-urethral-stricture-rate-after-prostate-cancer-radiotherapy-five-year-data-of-a-certified-prostate-cancer-center
#7
J Kranz, G Maurer, U Maurer, O Deserno, S Schulte, J Steffens
BACKGROUND: A urethral stricture is a scar of the urethral epithelium which can cause obstructive voiding dysfunction with consequential damage of the upper urinary tract. Almost 45% of all strictures are iatrogenic; they develop in 2-9% of patients after radical prostatectomy, but can also occur after prostate cancer radiotherapy. This study provides 5‑year data of a certified prostate cancer center (PKZ) in terms of urethral strictures. MATERIALS AND METHODS: Between 01/2008 and 12/2012 a total of 519 men were irradiated for prostate cancer (LDR and HDR brachytherapy as well as external beam radiation)...
January 19, 2017: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/28101903/development-and-characterization-of-anti-glycopeptide-monoclonal-antibodies-against-human-podoplanin-using-glycan-deficient-cell-lines-generated-by-crispr-cas9-and-talen
#8
Mika K Kaneko, Takuro Nakamura, Ryusuke Honma, Satoshi Ogasawara, Yuki Fujii, Shinji Abe, Michiaki Takagi, Hiroyuki Harada, Hiroyoshi Suzuki, Yasuhiko Nishioka, Yukinari Kato
Human podoplanin (hPDPN), which binds to C-type lectin-like receptor-2 (CLEC-2), is involved in platelet aggregation and cancer metastasis. The expression of hPDPN in cancer cells or cancer-associated fibroblasts indicates poor prognosis. Human lymphatic endothelial cells, lung-type I alveolar cells, and renal glomerular epithelial cells express hPDPN. Although numerous monoclonal antibodies (mAbs) against hPDPN are available, they recognize peptide epitopes of hPDPN. Here, we generated a novel anti-hPDPN mAb, LpMab-21...
January 19, 2017: Cancer Medicine
https://www.readbyqxmd.com/read/28101838/renal-consequences-of-preterm-birth
#9
REVIEW
Amelie Stritzke, Sumesh Thomas, Harish Amin, Christoph Fusch, Abhay Lodha
BACKGROUND: The developmental origin of health and disease concept identifies the brain, cardiovascular, liver, and kidney systems as targets of fetal adverse programming with adult consequences. As the limits of viability in premature infants have been pushed to lower gestational ages, the long-term impact of prematurity on kidneys still remains a significant burden during hospital stay and beyond. OBJECTIVES: The purpose of this study is to summarize available evidence, mechanisms, and short- and long-term renal consequences of prematurity and identify nephroprotective strategies and areas of uncertainty...
December 2017: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/28101833/gout-treatment-survey-of-brazilian-rheumatology-residents
#10
REVIEW
Rodrigo Balbino Chaves Amorim, Ana Beatriz Vargas-Santos, Leticia Rocha Pereira, Evandro Silva Freire Coutinho, Geraldo da Rocha Castelar-Pinheiro
To assess the current practices in gout management among Brazilian rheumatology residents. We performed a cross-sectional online survey among all the rheumatology residents and those rheumatologists who had just completed their training (post-residency (PR)) regarding their approach to gout management. Results were compared with the 2012 American College of Rheumatology (ACR) gout guidelines and with the responses of a previous survey with a representative sample of practicing Brazilian rheumatologists (RHE)...
January 19, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28101755/does-n-terminal-pro-brain-type-natriuretic-peptide-predict-cardiac-complications-after-hip-fracture-surgery
#11
Hiroki Ushirozako, Tsuyoshi Ohishi, Tomotada Fujita, Daisuke Suzuki, Kazufumi Yamamoto, Tomohiro Banno, Hiroyuki Takase, Yukihiro Matsuyama
BACKGROUND: Elderly patients with hip fracture are at risk for cardiac complications. N-terminal pro-brain type natriuretic peptide (NT-proBNP) has been shown to predict cardiac complications in surgical patients; however, to our knowledge, only two studies have evaluated the utility of this test in patients with hip fracture. We believe it is important to assess a more accurate cutoff value of NT-proBNP with exclusion of patients with renal failure. QUESTIONS/PURPOSES: To assess the association between preoperative NT-proBNP and cardiac complications after hip fracture surgery...
January 18, 2017: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/28101502/pregnant-woman-with-atypical-hemolytic-uremic-syndrome-delivered-a-healthy-newborn-under-eculizumab-treatment
#12
Erol Demir, Halil Yazici, Yasemin Ozluk, Isin Kilicaslan, Aydin Turkmen
Pregnancy-associated thrombotic microangiopathy is a very rare condition; however, it significantly increases fetal or maternal morbidity and mortality. Pregnancy may trigger atypical hemolytic uremic syndrome (aHUS) or thrombotic thrombocytopenic purpura. The risk for pregnancy-associated aHUS is highest during the second pregnancy. The outcome is usually poor with 50-60% mortality; renal dysfunction and hypertension are the rule in those who survive the acute episode. After the development of complement regulation mechanisms and aHUS pathogenesis, eculizumab has been widely used as a first-line treatment in aHUS...
September 2016: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/28101482/cefepime-induced-non-convulsive-status-epilepticus-in-a-patient-with-normal-renal-function
#13
Hyeon-Mi Park, Young Noh, Ji Won Yang, Dong Hoon Shin, Yeong-Bae Lee
Cefepime-induced encephalopathy including nonconvulsive status epilepticus has been known to develop in the patients with renal impairment. However, we report a 74-year-old woman with normal renal function who developed stuporous mental status during cefepime administration. Electroencephalogram (EEG) revealed 2 Hz rhythmic sharp-and-waves continuously, which suggested nonconvulsive status epilepticus (NCSE). After cefepime discontinuation, clinical symptoms recovered gradually and EEG findings showed only background slowing without epileptiform discharges...
December 2016: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/28101451/laparoscopic-vs-open-donor-nephrectomy-lessons-learnt-from-single-academic-center-experience
#14
Georgios Tsoulfas, Polyxeni Agorastou, Dicken S C Ko, Martin Hertl, Nahel Elias, A B Cosimi, Tatsuo Kawai
AIM: To compare laparoscopic and open living donor nephrectomy, based on the results from a single center during a decade. METHODS: This is a retrospective review of all living donor nephrectomies performed at the Massachusetts General Hospital, Harvard Medical School, Boston, between 1/1998 - 12/2009. Overall there were 490 living donors, with 279 undergoing laparoscopic living donor nephrectomy (LLDN) and 211 undergoing open donor nephrectomy (OLDN). Demographic data, operating room time, the effect of the learning curve, the number of conversions from laparoscopic to open surgery, donor preoperative glomerular filtration rate and creatinine (Cr), donor and recipient postoperative Cr, delayed graft function and donor complications were analyzed...
January 6, 2017: World Journal of Nephrology
https://www.readbyqxmd.com/read/28101447/functional-coupling-of-v-atpase-and-clc-5
#15
REVIEW
Nobuhiko Satoh, Masashi Suzuki, Motonobu Nakamura, Atsushi Suzuki, Shoko Horita, George Seki, Kyoji Moriya
Dent's disease is an X-linked renal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria and progressive renal failure. Disease aetiology is associated with mutations in the CLCN5 gene coding for the electrogenic 2Cl(-)/H(+) antiporter chloride channel 5 (CLC-5), which is expressed in the apical endosomes of renal proximal tubules with the vacuolar type H(+)-ATPase (V-ATPase). Initially identified as a member of the CLC family of Cl(-) channels, CLC-5 was presumed to provide Cl(-) shunt into the endosomal lumen to dissipate H(+) accumulation by V-ATPase, thereby facilitating efficient endosomal acidification...
January 6, 2017: World Journal of Nephrology
https://www.readbyqxmd.com/read/28101432/atypical-hemolytic-uremic-syndrome-in-first-trimester-pregnancy-successfully-treated-with-eculizumab
#16
Gabriela Andries, Michael Karass, Srikanth Yandrapalli, Katherine Linder, Delong Liu, John Nelson, Rahul Pawar, Savneek Chugh
BACKGROUND: Atypical hemolytic uremic syndrome is a rare disorder which is known to cause acute thrombotic microangiopathy during pregnancy with poor maternal and fetal outcomes. Atypical hemolytic uremic syndrome is caused mostly by dysregulation of alternative complement pathway secondary to genetic mutations. Most of the cases reported have been in the post-partum period. We report a rare case of a patient who presents with thrombotic microangiopathy in the first trimester of her eleventh pregnancy and was successfully treated with eculizumab...
2017: Experimental Hematology & Oncology
https://www.readbyqxmd.com/read/28101313/a-young-adult-with-unintended-acute-intravenous-iron-intoxication-treated-with-oral-chelation-the-use-of-liver-ferriscan-for-diagnosing-and-monitoring-tissue-iron-load
#17
Mohamed Yassin, Ashraf T Soliman, Vincenzo De Sanctis, Abbas Moustafa, Sandra Abou Samaan, Abdulqadir Nashwan
Acute iron intoxication (FeI) in humans has not been adequately studied. The manifestation of FeI, defined as a serum iron concentration >300 μg/dL (55 μmol/L) within 12 hours of ingestion, include various symptoms appearing in progressive stages. Systemic toxicity is expected with an intake of 60 mg/kg. A 27-year-old female nurse presented with unintended acute intravenous iron intoxication (FeI) a week after self-injecting herself with 20 ampoules of IV iron (4,000 mg elemental iron, 60 mg/kg). She had stable vital signs and mild hepatic tenderness...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28101180/acute-renal-injury-induced-by-valacyclovir-hydrochloride-a-case-report
#18
Yanning Zhang, Yuxi Cong, Yan Teng
Acyclovir has been a frequently used antiviral agent in the clinical treatment of leukemia, acute encephalitis, malignant tumor and herpes simplex. The adverse effects of this drug have been widely described in clinical practice. In the present study, a case of a 35-year-old female patient diagnosed with herpes simplex, who developed acute renal injury following treatment with valacyclovir hydrochloride, is described. Kidney biopsy, light microscopy and laboratory examination were performed, and all findings revealed the signs of evident vacuolar degeneration of capillary endothelial and renal tubular epithelial cells, erythrocyte aggregation in partial renal tubule and microvilli exfoliation from epithelial cells...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28100879/association-between-prior-aspirin-use-and-morphological-features-of-culprit-lesions-at-first-presentation-of-acute-coronary-syndrome-assessed-by-optical-coherence-tomography
#19
Taishi Yonetsu, Tetsumin Lee, Tadashi Murai, Yoshinori Kanno, Rikuta Hamaya, Sadamitsu Ichijo, Takayuki Niida, Masahiro Hada, Makoto Araki, Junji Matsuda, Eisuke Usui, Masahiro Hoshino, Yoshihisa Kanaji, Tsunekazu Kakuta
BACKGROUND: The effect of prior use of aspirin (ASA) on the onset of acute coronary syndrome (ACS) has not been clarified. This study used optical coherence tomography (OCT) to investigate the morphological features of culprit lesions of ACS in patients with prior ASA use.Methods and Results:In total, 442 patients with their first ACS episode undergoing OCT for the culprit lesions were investigated. Clinical characteristics, OCT findings, and adverse events at 30 days were compared between patients with prior ASA use and ASA-naïve patients (non-ASA)...
January 19, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28100577/late-spontaneous-decapsulation-of-the-kidney-graft-in-a-patient-with-hepatitis-c-and-treated-with-sirolimus-possible-pathophysiological-association-in-a-rare-complication
#20
Rita Leal, Helena Pinto, Rui Alves, Arnaldo Figueiredo
Late decapsulation with fluid collection is a rare complication of renal transplantation with deleterious effects on kidney function. Its physiopathology is unclear but there might be an association with mammalian target of rapamycin (m-TOR) inhibitors, especially in patients with chronic hepatitis C. We report a case of late spontaneous decapsulation 12 years after kidney transplant in a patient infected with hepatitis C under treatment with sirolimus. He underwent marsupialisation of the collection, sirolimus was converted to cyclosporine and hepatitis C treatment was performed with success...
January 18, 2017: BMJ Case Reports
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