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https://www.readbyqxmd.com/read/29217180/structure-based-mimicking-of-phthalic-acid-esters-paes-and-inhibition-of-hacmsd-an-important-enzyme-of-the-tryptophan-kynurenine-metabolism-pathway
#1
Neha Singh, Vikram Dalal, Pravindra Kumar
Human α-amino-β-carboxymuconate-ε-semialdehyde decarboxylase (hACMSD) is a zinc containing amidohydrolase which is a vital enzyme of the kynurenine pathway in tryptophan metabolism. It prevents the accumulation of quinolinic acid (QA) and helps in the maintenance of basal trp-niacin ratio. To assess the structure based inhibitory action of PAEs such as DMP, DEP, DBP, DIBP, DEHP and their metabolites, these were docked into the active site cavity of hACMSD. Docking results show that the binding affinities of PAEs lie in the comparable range (-4...
December 4, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29215095/homozygosity-for-a-nonsense-variant-in-aimp2-is-associated-with-a-progressive-neurodevelopmental-disorder-with-microcephaly-seizures-and-spastic-quadriparesis
#2
Anju Shukla, Aneek Das Bhowmik, Malavika Hebbar, Kadavigere V Rajagopal, Katta M Girisha, Neerja Gupta, Ashwin Dalal
We ascertained two unrelated consanguineous families with two affected children each having microcephaly, refractory seizures, intellectual disability, and spastic quadriparesis. Magnetic resonance imaging showed atrophy of cerebrum, cerebellum and spinal cord, prominent cisterna magna, symmetric T2 hypo-intensities in the bilateral basal ganglia and thinning of corpus callosum. Whole-exome sequencing of three affected individuals revealed c.105C>A [p.(Tyr35Ter)] variant in AIMP2. The variant lies in a common homozygous region of 940 kb on chromosome 7 and is likely to have been inherited from a common ancestor...
November 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29211318/nitrogen-rich-microbial-products-provide-new-organo-mineral-interactions-for-the-stabilization-of-soil-organic-matter
#3
Peter M Kopittke, Maria C Hernandez-Soriano, Ram C Dalal, Damien Finn, Neal W Menzies, Carmen Hoeschen, Carsten W Mueller
Understanding the cycling of C and N in soils is important for maintaining soil fertility while also decreasing greenhouse gas emissions, but much remains unknown about how organic matter (OM) is stabilized in soils. We used nano-scale secondary ion mass spectrometry (NanoSIMS) to investigate changes in C and N in a Vertisol and an Alfisol incubated for 365 d with 13 C and 15 N pulse labelled lucerne (Medicago sativa L.) in order to discriminate new inputs of OM from the existing soil OM. We found that almost all OM within the free stable microaggregates of the soil was associated with mineral particles, emphasizing the importance of organo-mineral interactions for the stabilization of C...
December 6, 2017: Global Change Biology
https://www.readbyqxmd.com/read/29205472/progressive-deafness-dystonia-due-to-serac1-mutations-a-study-of-67-cases
#4
Saskia B Wortmann, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, Bader Alhaddad, Moeenaldeen AlSayed, Mohammed A Al-Owain, Hamad I Al-Zaidan, Shanti Balasubramaniam, Ivo Barić, Dalal Bubshait, Alberto Burlina, John Christodoulou, Wendy K Chung, Roberto Colombo, Niklas Darin, Peter Freisinger, Maria Teresa Garcia Silva, Stephanie Grunewald, Tobias B Haack, Peter M van Hasselt, Omar Hikmat, Friederike Hörster, Pirjo Isohanni, Khushnooda Ramzan, Reka Kovacs-Nagy, Zita Krumina, Elena Martin-Hernandez, Johannes A Mayr, Patricia McClean, Linda De Meirleir, Karin Naess, Lock H Ngu, Magdalena Pajdowska, Shamima Rahman, Gillian Riordan, Lisa Riley, Benjamin Roeben, Frank Rutsch, Rene Santer, Manuel Schiff, Martine Seders, Silvia Sequeira, Wolfgang Sperl, Christian Staufner, Matthis Synofzik, Robert W Taylor, Joanna Trubicka, Konstantinos Tsiakas, Ozlem Unal, Evangeline Wassmer, Yehani Wedatilake, Toni Wolff, Holger Prokisch, Eva Morava, Ewa Pronicka, Ron A Wevers, Arjan P de Brouwer, Roeltje R Maas
OBJECTIVE: 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. METHODS: Multi centre study concerning the course of disease for each organ system, together with metabolic, neuroradiological and genetic findings. RESULTS: 67 individuals (39 previously unreported) from 59 families were included (age range 5 days - 33.4 years, median age 9 years)...
December 2, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29199309/translational-and-rotational-dynamics-in-dense-suspensions-of-smooth-and-rough-colloids
#5
Lilian C Hsiao, Indranil Saha-Dalal, Ronald G Larson, Michael J Solomon
We demonstrate that colloidal particles with surface roughness exhibit hindered rotational diffusion in quiescent dense suspensions. This is accomplished by the use of confocal microscopy and particle tracking to follow the translational and rotational dynamics of smooth and rough colloids suspended in a refractive index and density matched organic solvent. Measurement of the three-dimensional rotational diffusion is enabled by the addition of inert Janus tracers made of native colloids coated with a thin layer of aluminum...
December 4, 2017: Soft Matter
https://www.readbyqxmd.com/read/29191961/intragraft-molecular-pathways-associated-with-tolerance-induction-in-renal-transplantation
#6
Lorenzo Gallon, James M Mathew, Sai Vineela Bontha, Catherine I Dumur, Pranav Dalal, Lakshmi Nadimpalli, Daniel G Maluf, Aneesha A Shetty, Suzanne T Ildstad, Joseph R Leventhal, Valeria R Mas
The modern immunosuppression regimen has greatly improved short-term allograft outcomes but not long-term allograft survival. Complications associated with immunosuppression, specifically nephrotoxicity and infection risk, significantly affect graft and patient survival. Inducing and understanding pathways underlying clinical tolerance after transplantation are, therefore, necessary. We previously showed full donor chimerism and immunosuppression withdrawal in highly mismatched allograft recipients using a bioengineered stem cell product (FCRx)...
November 30, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29176004/musculoskeletal-injuries-in-british-army-recruits-a-prospective-study-of-incidence-in-different-infantry-regiments
#7
Jagannath Sharma, J Dixon, S Dalal, R Heagerty, I Spears
BACKGROUND: Musculoskeletal injuries and attrition incurred during basic military training are a significant socioeconomic burden across many Defence Forces. In order to plan an injury prevention strategy, the purpose of this study was to quantify the regiment-specific musculoskeletal injury patterns and training outcomes. METHODS: This was a prospective observational study of the Parachute (n=734), Guards (n=1044), Line (n=3472) and Gurkha (n=458) Regiments of the British Army recruits during a 26-week basic military training programme over a 2-year period...
November 24, 2017: Journal of the Royal Army Medical Corps
https://www.readbyqxmd.com/read/29174251/effect-of-ferric-carboxymaltose-on-hospitalization-and-mortality-outcomes-in-chronic-heart-failure-a-meta-analysis
#8
Jamshed Dalal, Vijay Katekhaye, Rishi Jain
INTRODUCTION: Iron administration especially intravenous iron therapy is associated with improvements in exercise capacity and quality of life in patients with chronic heart failure (CHF). Our aim was to assess effect of ferric carboxymaltose (FCM) on hospitalization and mortality outcomes in CHF. MATERIALS AND METHODS: A literature search across PUBMED, Google Scholar and trials database www.clinicaltrials.gov was conducted to search for randomized controlled trials (till August 2016) comparing FCM to placebo in CHF with or without anaemia...
November 2017: Indian Heart Journal
https://www.readbyqxmd.com/read/29167666/first-year-of-israeli-newborn-screening-for-severe-combined-immunodeficiency-clinical-achievements-and-insights
#9
Erez Rechavi, Atar Lev, Amos J Simon, Tali Stauber, Suha Daas, Talia Saraf-Levy, Arnon Broides, Amit Nahum, Nufar Marcus, Suhair Hanna, Polina Stepensky, Ori Toker, Ilan Dalal, Amos Etzioni, Shlomo Almashanu, Raz Somech
Severe combined immunodeficiency (SCID), the most severe form of T cell immunodeficiency, is detectable through quantification of T cell receptor excision circles (TRECs) in dried blood spots obtained at birth. Herein, we describe the results of the first year of the Israeli SCID newborn screening (NBS) program. This important, life-saving screening test is available at no cost for every newborn in Israel. Eight SCID patients were diagnosed through the NBS program in its first year, revealing an incidence of 1:22,500 births in the Israeli population...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29166313/the-perineal-turnover-perforator-flap-a-new-and-simple-technique-for-perineal-reconstruction-after-extralevator-abdominoperineal-excision
#10
Maria Chasapi, Mohamed Maher, Peter Mitchell, Milind Dalal
BACKGROUND: Extralevator abdominoperineal excision (ELAPE) is increasingly used to treat locally advanced low rectal cancer as it has been related to superior oncological outcomes than traditional abdominoperineal excision.However, ELAPE also has been associated with high perineal wound morbidity rates as it creates a larger perineal cavity than standard abdominoperineal excision. This greater defect, along with the effects of preoperative chemoradiation on wound healing, makes uneventful perineal reconstruction post-ELAPE a real challenge for the plastic surgeon...
November 21, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/29165837/pulse-duration-settings-in-subthalamic-stimulation-for-parkinson-s-disease
#11
Frank Steigerwald, Lars Timmermann, Andrea Kühn, Alfons Schnitzler, Martin M Reich, Anna Dalal Kirsch, Michael Thomas Barbe, Veerle Visser-Vandewalle, Julius Hübl, Christoph van Riesen, Stefan Jun Groiss, Alexia-Sabine Moldovan, Sherry Lin, Stephen Carcieri, Ljubomir Manola, Jens Volkmann
BACKGROUND: Stimulation parameters in deep brain stimulation (DBS) of the subthalamic nucleus for Parkinson's disease (PD) are rarely tested in double-blind conditions. Evidence-based recommendations on optimal stimulator settings are needed. Results from the CUSTOM-DBS study are reported, comparing 2 pulse durations. METHODS: A total of 15 patients were programmed using a pulse width of 30 µs (test) or 60 µs (control). Efficacy and side-effect thresholds and unified PD rating scale (UPDRS) III were measured in meds-off (primary outcome)...
November 22, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29165228/case-report-histoplasmosis-first-autochthonous-case-from-israel
#12
Adi Elias, Khaldun Abu Saleh, Nabil Faranesh, Raid Dalal, Yuval Geffen, Yael Fisher, Ami Neuberger, Suleiman Zaaroura
We present an autochthonous Histoplasma infection in Israel. The patient presented with hoarseness and weight loss. Pathology findings and molecular tests confirmed the diagnosis, and the patient responded to antifungal therapy. Because the patient had an atypical presentation of histoplasmosis, it is likely that other more typical cases have gone unreported. To our knowledge, no other cases have been previously reported from Israel or the Middle East region.
November 20, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/29159890/whole-exome-sequencing-reveals-a-mutation-in-armc9-as-a-cause-of-mental-retardation-ptosis-and-polydactyly
#13
Anjana Kar, Shubha R Phadke, Aneek Das Bhowmik, Ashwin Dalal
Intellectual disability (ID) refers to deficits in mental abilities, social behavior, and motor skills to perform activities of daily living as compared to peers. Numerous genetic and environmental factors may be responsible for ID. We report on elucidation of molecular basis for syndromic ID associated with ptosis, polydactyly, and MRI features suggestive of Joubert syndrome using homozygosity mapping followed by exome sequencing. The analysis revealed a novel synonymous variation p.T293T (c.879G>A) which leads to a splicing defect in ARMC9 gene...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159868/tarsal-carpal-coalition-syndrome-report-of-a-novel-missense-mutation-in-nog-gene-and-phenotypic-delineation
#14
Aneek Das Bhowmik, Vijayalakshmi Salem Ramakumaran, Ashwin Dalal
We report a family of Indian origin presenting with Tarsal-carpal coalition syndrome (TCC), which is a rare genetic disorder of skeletal abnormalities, inherited in autosomal dominant manner. In this family, three individuals (mother and two children) were found to be similarly affected with slight intrafamilial individual variability in the phenotype. Sanger sequencing revealed a novel heterozygous missense mutation in NOG gene (NM_005450.4:c.611G>A) in all the affected individuals of the family. Until now only six mutations have been reported in different families affected with TCC syndrome worldwide...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159236/data-of-drowning-related-deaths-with-reference-to-entomological-evidence-from-haryana
#15
Jyoti Dalal, Sapna Sharma, Kapil Verma, S K Dhattarwal, Tapeshwar Bhardwaj
Most often the newspapers and bulletin come out with voluminous cases of deaths due to drowning. At the same time an ample section of such cases encompass entomological evidences, that can be scrutinized as a very useful parameter in estimating post mortem interval (PMI). This research database is an outcome of a 2 years reflective study, based on an assessment of records related to human deaths due to drowning. The drowned bodies from various districts of Haryana are sent to PGIMS (Post Graduate Institute of Medical Sciences), Rohtak...
December 2017: Data in Brief
https://www.readbyqxmd.com/read/29154378/idiopathic-renal-replacement-lipomatosis
#16
A Bansal, M Kaur, V Dalal
Renal replacement lipomatosis (RRL) is a rare disorder which exhibits extensive proliferation of fatty tissue within the renal sinus, hilum, and perirenal region. The pathogenesis of this entity is unknown, though association with aging, renal atrophy, longstanding chronic urinary infections has been noted. Although imaging modalities may suggest the diagnosis of this entity, it is histopathology that clinches the diagnosis most accurately. We report a case of a 52 year old male who presented with nonfunctioning kidney and was histopathologically confirmed to be a case of renal replacement lipomatosis...
September 2017: Pathologica
https://www.readbyqxmd.com/read/29153509/transcatheter-embolization-of-a-giant-coronary-artery-pseudoaneurysm
#17
Pratik Dalal, Divyashree Varma, Ripa Chakravorty, Salil Sethi, Steven Bailey, Anand Prasad
A 53-year-old diabetic male with sternal dehiscence presented with recurrent staphylococcus bacteremia 2years after coronary artery bypass grafting (CABG). He was found to have a giant right coronary artery (RCA) pseudoaneurysm and a coronary cameral fistula on imaging. Due to excessive surgical risk, the patient underwent percutaneous treatment with a 5mm Amplatzer vascular plug 4 (St. Jude Medical, St.Paul, MN). Post-procedure imaging showed successful cessation of flow into the pseudoaneurysm and follow-up CT scan demonstrated significant improvement in the size of the pseudoaneurysm...
November 16, 2017: Cardiovascular Revascularization Medicine: Including Molecular Interventions
https://www.readbyqxmd.com/read/29152040/ayurvedic-drug-induced-liver-injury
#18
Kunal K Dalal, Thomas Holdbrook, Steven R Peikin
Drug induced liver injury is responsible for 50% of acute liver failure in developed countries. Ayurvedic and homeopathic medicine have been linked to liver injury. This case describes the first documented case of Punarnava mandur and Kanchnar guggulu causing drug induced liver injury. Drug induced liver injury may be difficult to diagnosis, but use of multi-modalities tools including the ACG algorithms, causative assessment scales, histological findings, and imaging, is recommended. Advanced imaging, such as magnetic resonance cholangiopancreatography, may possibly have a greater role than previously reported in literature...
November 8, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/29147920/dysphagia-in-multiple-sclerosis-evaluation-and-validation-of-the-dymus-questionnaire
#19
REVIEW
Dalal Alali, Kirrie Ballard, Steve Vucic, Hans Bogaardt
OBJECTIVE: The 10-item Dysphagia in Multiple Sclerosis (DYMUS) questionnaire is a self-administered tool used to identify swallowing problems in adults with MS. The questionnaire was not validated against other existing questionnaires to assess its convergent validity. Moreover, its test-retest reliability was not measured previously. Therefore, the purpose of this study was to assess the factor analysis, internal consistency and test-retest reliability of the DYMUS, as well as its convergent validity against an established and validated questionnaire, the EAT-10...
November 17, 2017: Dysphagia
https://www.readbyqxmd.com/read/29147467/problematic-communications-during-2016-fellowship-recruitment-in-internal-medicine
#20
Patricia A Cornett, Chris Williams, Richard L Alweis, John McConville, Michael Frank, Bhavin Dalal, Richard I Kopelman, Vera P Luther, Alec B O'connor, Elaine A Muchmore
Some internal medicine residency program directors have expressed concerns that their third-year residents may have been subjected to inappropriate communication during the 2016 fellowship recruitment season. The authors sought to study applicants' interpersonal communication experiences with fellowship programs. Many respondents indicated that they had been asked questions that would constitute violations of the National Residency Matching Program (NRMP) Communications Code of Conduct agreement, including how they plan to rank specific programs...
2017: Journal of Community Hospital Internal Medicine Perspectives
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