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https://www.readbyqxmd.com/read/28210839/thrombotic-microangiopathy-caused-by-methionine-synthase-deficiency-diagnosis-and-treatment-pitfalls
#1
Maria Helena Vaisbich, Andressa Braga, Maria Gabrielle, Clarissa Bueno, Flávia Piazzon, Fernando Kok
BACKGROUND: Inborn errors of cobalamin (Cbl) metabolism form a large group of rare diseases. One of these, Cbl deficiency type C (CblC), is a well-known cause of thrombotic microangiopathy (TMA), especially in infants. However, there has only been a single published case of TMA associated to Cbl deficiency type G (CblG), also known as methionine synthase deficiency (MSD). CASE DIAGNOSIS/TREATMENT: A 21-month-old boy presented with pallor and oral ulcers during episodes of upper respiratory infection (URI)...
February 16, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28209763/revisiting-suppression-of-interspecies-hybrid-male-lethality-in-caenorhabditis-nematodes
#2
Lauren E Ryan, Eric S Haag
Within the nematode genus Caenorhabditis, C. briggsae and C. nigoni are among the most closely related species known. They differ in sexual mode, with C. nigoni retaining the ancestral XO male-XX female outcrossing system, while C. briggsae recently evolved self-fertility and an XX-biased sex ratio. Wild-type C. briggsae and C. nigoni can produce fertile hybrid XX female progeny, but XO progeny are either 100% inviable (when C. briggsae is the mother) or viable but sterile (when C. nigoni is the mother). A recent study provided evidence suggesting that loss of the Cbr-him-8 meiotic regulator in C...
February 16, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28209013/identifying-aarskog-syndrome
#3
Anis Ahmed, Abdullah Mufeed, Ashir Kolikkal Ramachamparambathu, Umer Hasoon
Aarskog syndrome also known as Aarskog-Scott Syndrome, Facio-digito-genital Syndrome or Faciogenital Dysplasia is a rare, X-linked disorder predominantly affecting males, characterized by facial, skeletal and genital anomalies. This is a case report of a 15-year-old male patient who visited our college complaining of poor facial aesthetics. History revealed consanguinity and his sibling to be suffering from the same. A diagnosis of Aarskog syndrome was made based upon the detailed patient history, thorough clinical evaluation and identification of characteristic findings in radiographs...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28206791/in-your-eyes-only-discrepancies-and-agreement-between-self-and-other-reports-of-personality-from-age-14-to-29
#4
Julia M Rohrer, Boris Egloff, Michal Kosinski, David Stillwell, Stefan C Schmukle
Do others perceive the personality changes that take place between the ages of 14 and 29 in a similar fashion as the aging person him- or herself? This cross-sectional study analyzed age trajectories in self- versus other-reported Big Five personality traits and in self-other agreement in a sample of more than 10,000 individuals from the myPersonality Project. Results for self-reported personality showed maturation effects (increases in extraversion, conscientiousness, openness to experience, and emotional stability), and this pattern was generally also reflected in other-reports, albeit with discrepancies regarding timing and magnitude...
February 16, 2017: Journal of Personality and Social Psychology
https://www.readbyqxmd.com/read/28203027/-a-new-method-to-orthodontically-correct-dental-occlusal-plane-canting-wave-shaped-arch
#5
X Zheng, X X Hu, N Ma, X H Chen
OBJECTIVE: To introduce a technique of second order wave-shaped arch wire to orthodontically treat dental occlusal plane canting (DOPC) with left-right interactive anchorage, and to test its clinical efficacy. METHODS: Among the permanent dentition malocclusion patients who showed no obvious facial asymmetry, we screened for patients who showed anterior occlusal plane canting (AOPC) after routine orthodontic examination, treatment planning, MBT fixed appliance installation and serial arch wires alignment...
February 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28202889/treatment-of-transthyretin-familial-amyloid-polyneuropathy-with-tafamidis-a-case-report
#6
Yoshimichi Miyazaki
INTRODUCTION: Familial amyloid polyneuropathy (FAP) is a rare hereditary disorder caused by mutations in the transthyretin (TTR) gene. Tafamidis is a TTR stabilizer able to prevent TTR tetramer dissociation, and several studies have demonstrated its safety and efficacy at slowing the progression of neuropathy in FAP caused by the TTR Val30Met mutation. However, nerve conduction study (NCS) and electromyography (EMG) results have yet to be reported in relation to FAP progression during tafamidis therapy...
2017: Nihon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics
https://www.readbyqxmd.com/read/28199025/beyond-fields-networks-and-fame-lawrence-krader-as-an-outsider-intellectual
#7
Sabine Sander, Cyril Levitt, Neil McMaughlin
This paper investigates the intellectual biography of the American philosopher and anthropologist Lawrence Krader (1919-1998) as a contribution to the sociology of intellectuals and history of ideas. We trace Krader's career trajectory to his intellectual self-concept, his scholarly and political worldviews, and his financial independence. Krader entertained a self-concept of a lone pioneer that led him to reject the competition for attention as highlighted in the current literature, dominated as it is by an emphasis on field, habitus, the accumulation and reproduction of power, and symbolic capital...
February 15, 2017: Journal of the History of the Behavioral Sciences
https://www.readbyqxmd.com/read/28196358/wellens-syndrome-a-bad-omen
#8
Madalena Coutinho Cruz, Isabel Luiz, Lurdes Ferreira, Rui Cruz Ferreira
Wellens' syndrome is characterized by an electrocardiographic pattern of T-wave changes associated with a critical stenosis of the left anterior descending artery (LAD), which progresses to an extensive anterior myocardial infarction in the majority of cases. For this reason, its recognition and early treatment are extremely important. We report 2 cases of Wellens' syndrome: an 83-year-old male presenting with ill-characterized chest pain, biphasic T waves in V1-V3 during an asymptomatic period, negative cardiac biomarkers, and a 64% stenosis in LAD with a fractional flow reserve of 0...
February 15, 2017: Cardiology
https://www.readbyqxmd.com/read/28195734/bovine-serum-albumin-adsorption-on-tio2-colloids-the-effect-of-particle-agglomeration-and-surface-composition
#9
Augusto Márquez, Thomas Berger, Andrea Feinle, Nicola Huesing, Martin Himly, Albert Duschl, Oliver Diwald
Protein adsorption at nanostructured oxides strongly depends on synthesis conditions and sample history of the material investigated. We measured the adsorption of bovine serum albumin (BSA) to commercial Aeroxide TiO2 P25 nanoparticles in aqueous dispersions. Significant changes in adsorption capacity were induced by mild sample washing procedures and attributed to the structural modification of adsorbed water and surface hydroxyls. Motivated by the lack of information about the sample history of commercial TiO2 nanoparticle samples we used vapor phase grown TiO2 nanoparticles, a well-established model system for adsorption and photo-catalysis studies, and performed on this material for the first time a systematic and quantitative BSA adsorption study...
February 14, 2017: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/28190791/no-free-bed-with-ventilator-experience-of-a-public-health-specialist
#10
Thriveni Shivanna Beerenahally
While the author was dealing with a poor elderly father struggling to shift his gravely injured young son to a government hospital due to the high cost of intensive care, her friends across the globe were discussing euthanasia in the social media. While marginalised groups of people are struggling to access care in India, friends who have moved to developed parts of the world were discussing one's choice to live or die! The poor father, after battling to save his son and reaching out to many people for help, could not save him...
January 2017: Indian Journal of Medical Ethics
https://www.readbyqxmd.com/read/28188361/the-role-of-the-general-practitioner-in-cancer-care-a-survey-of-the-patients-perspective
#11
V Lang, S Walter, J Fessler, M J Koester, D Ruetters, J Huebner
PURPOSE: Modern cancer care is provided in highly specialized structures as certificated centres and comprehensive cancer center, as well as specialized practices. In contrast, the position of the general practitioner (GP) is less well characterised and there is a lack of information about his importance in the care for cancer patients. The aim of our survey was to assess the role of GPs in German cancer care from patients' perspective. METHODS: In several steps we developed a standardized anonymous questionnaire in cooperation with the German Association of General Practitioners and the Federal Association of German Self-Help Groups...
February 10, 2017: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/28185969/joseph-buford-pennybacker-cbe-md-frcs-1907-1983-continuing-sir-hugh-cairns-oxford-legacy-and-pioneer-of-the-modern-management-of-cerebral-abscesses
#12
REVIEW
Ravindran Visagan, Harold Ellis
The authors examine the life and contribution of Joseph Buford Pennybacker to British neurosurgery and the modern management of cerebral abscesses. Pennybacker's inspirational journey began with him aspiring to Ephraim McDowell. It saw him cross the Atlantic, learn medicine at Edinburgh, train in neurology at Queen Square in London and learn neurosurgery under Sir Hugh Cairns in Oxford. He navigated a successful career through World War Two and together with Cairns established the Radcliffe Infirmary in Oxford as a highly esteemed neurosurgical unit...
February 6, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28185785/can-antibiotics-cause-a-psychosis-case-report-and-review-of-the-literature
#13
Duy Ly, Lynn E DeLisi
It is relatively unknown that some of the possible side effects of antibiotic treatment can be transient psychotic episodes and other encephalopathies such as seizure disorders. Since these are rare events, there have not been many studies about them, nor is there a clear understanding of the underlying basis for these symptoms. This phenomenon was recently brought to our attention by a patient whose case history is discussed here. For the past few years, he has been diagnosed at different times with schizophrenia, schizoaffective disorder, bipolar disorder with psychosis, temporal lobe epilepsy, and psychogenic nonepileptic seizures...
February 6, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28178433/the-legacy-of-thomas-hodgkin-is-still-relevant-150-years-after-his-death-nothing-of-humanity-was-foreign-to-him
#14
Eldad J Dann
Current leading figures in medical science usually focus on very specific topics and use cutting-edge technologies to broaden our knowledge in the field. The working environment of the nineteenth century was very different. Medical giants of that time such as Rudolph Virchow and Thomas Hodgkin had a wide-ranging scope of research and humanitarian interests and made enormous contributions to a variety of core areas of medicine and the well-being of mankind. The year 2016 marked the 150th anniversary of the death of Dr Thomas Hodgkin...
January 30, 2017: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/28174383/-a-case-of-synchronous-double-cancer-of-the-lung-and-stomach-that-responded-to-cisplatin-and-s-1-combination-chemotherapy
#15
Tomohide Sugiyama, Takashi Kasai, Yoichi Nakamura, Yukari Kamiyama, Kiyoshi Mori
A 55-year-old man experienced weight loss, as noted by a physician who was examining him for hypertension. Upper gastrointestinal endoscopy revealed a tumor lesion with an ulcer on the posterior wall of the greater curvature. A biopsy confirmed the presence of an adenocarcinoma(HER2 negative), and demonstrated enlarged para-aortic lymph nodes. Thus, stage IV type 3 ulcer infiltration-type gastric cancer was diagnosed. Computed tomography was included in the examination, and demonstrated nodular shadows in the right lower lobe and enlarged mediastinal nodes, as well as bilateral multiple granular shadows...
January 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28174382/-persistent-chemotherapy-induced-hiccups-successfully-treated-with-pregabalin
#16
Kyoko Nakanishi, Kumi Sugiyama, Yasushi Abe, Tetsushi Endo, Yoshinobu Ohsaki
A 62-year-old male was diagnosed with large cell lung cancer(c-Stage IV)based on pathological examination of an anterior chest tumor. He received chemotherapy with cisplatin, pemetrexed, and bevacizumab. He suffered from persistent hiccups from day 2 of the first course of chemotherapy. He was unsuccessfully treated with chlorpromazine, shakuyakukanzoto, and gabapentin. Therefore, we administered pregabalin to him, and his hiccups subsided immediately. To prevent hiccups, he subsequently took pregabalin along with his chemotherapy regimen, and was able to receive 4 courses of chemotherapy without persistent hiccups...
January 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28169822/-dying-well-seen-in-the-light-of-self-transcendence-and-transition-160-two-theories-of-care-helpful-to-nurses
#17
Pauline Laporte, Nicolas Vonarx
<ce:para>Accompanying a dying person up to and at the actual moment of death is a duty that often leaves carers at a loss. We shall show how far theoretical nursing knowledge can help practitioners who accompany the end of life by applying two theories of care : Reed’s theory of self-transcendence and Meleis’s theory of transition. Our interpretation of the theory of self-transcendence designates three points of reference in the concept of dying well. The first relates to the overtures prompted by the vulnerability that the context of dying inspires...
July 5, 2016: Recherche en Soins Infirmiers
https://www.readbyqxmd.com/read/28169413/-efficacy-of-the-application-of-kinesio-tape-in-patients-with-stroke
#18
REVIEW
J Ortiz-Ramirez, S Perez-De la Cruz
AIMS: To review the effects achieved by the kinesio tape in patients with stroke in scientific studies published on date and to discuss these findings may be of interest to neurology. DEVELOPMENT: An exhaustive search in the main scientific databases using keywords such as kinesio tape, kinesiotaping, musculoskeletal tape, taping medical concept was carried out. Citations of selected articles and scientific papers published on the website of the Spanish Association of Neuromuscular Bandage were analyzed...
February 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28167862/mycetoma-in-a-non-endemic-area-a-diagnostic-challenge
#19
Boubacar Efared, Layla Tahiri, Marou Soumana Boubacar, Gabrielle Atsam-Ebang, Nawal Hammas, El Fatemi Hinde, Laila Chbani
BACKGROUND: Mycetoma is a chronic granulomatous infectious disease caused by filamentous bacteria or by fungi. The disease is endemic in certain tropical and subtropical areas of the world but can be found elsewhere posing sometimes a diagnostic challenge for clinicians. CASE PRESENTATION: A 65-year- old man presented with a right foot swelling evolving for 25 years. During that time, several diagnosis and treatments have been made without any improvement. The disease spread to bones, and misdiagnosed as Kaposi's sarcoma...
2017: BMC Clinical Pathology
https://www.readbyqxmd.com/read/28165658/c-o-chelated-binol-gold-iii-complexes-synthesis-and-catalysis-with-tunable-product-profiles
#20
Jian-Fang Cui, Hok-Ming Ko, Ka-Pan Shing, Jie-Ren Deng, Nathanael Chun-Him Lai, Man-Kin Wong
Unprecedented stable BINOL/gold(III) complexes, adopting a novel C,O-chelation mode, were synthesized by a modular approach through combination of 1,1'-binaphthalene-2,2'-diols (BINOLs) and cyclometalated gold(III) dichloride complexes [(C^N)AuCl2 ]. X-ray crystallographic analysis revealed that the bidentate BINOL ligands tautomerized and bonded to the Au(III) atom through C,O-chelation to form a five-membered ring instead of the conventional O,O'-chelation giving a seven-membered ring. These gold(III) complexes catalyzed acetalization/cycloisomerization and carboalkoxylation of ortho-alkynylbenzaldehydes with trialkyl orthoformates...
February 6, 2017: Angewandte Chemie
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