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https://www.readbyqxmd.com/read/29222740/a-case-of-maturity-onset-diabetes-of-the-young-mody3-in-a-family-with-a-novel-hnf1a-gene-mutation-in-five-generations
#1
A K Ovsyannikova, O D Rymar, D E Ivanoshchuk, Svetlana V Mikhailova, E V Shakhtshneider, P S Orlov, E S Malakhina, M I Voevoda
Diabetes mellitus with autosomal dominant inheritance, i.e., maturity-onset diabetes of the young (MODY), is a genetic form of diabetes mellitus. The MODY phenotype is associated with gene mutations leading to pancreatic β-cell dysfunction. Here, we present the clinical case of a 50-year-old proband with familial diabetes mellitus in five generations (proband, her mother, grandmother, great-grandfather, and son). This disease is most likely associated with the novel Ser6Arg mutation in the HNF1A gene, which was identified in four family members...
December 8, 2017: Diabetes Therapy: Research, Treatment and Education of Diabetes and related Disorders
https://www.readbyqxmd.com/read/29222303/responsiveness-of-patient-reported-outcome-measurement-information-system-promis-pain-domains-and-disease-specific-patient-reported-outcome-measures-in-children-and-adults-with-sickle-cell-disease
#2
REVIEW
Susanna Curtis, Amanda M Brandow
Case 1: A 33-year-old man with hemoglobin SS (homozygous hemoglobin S) disease presents for his regular clinic visit. He had 6 hospital admissions for pain over the past year. He also has avascular necrosis of the right hip. He takes daily hydroxyurea with hematologic changes indicative of compliance. He also takes morphine sustained release twice daily and morphine immediate release every 6 hours as needed for pain. He feels that more optimal pain control at home would help him reduce his number of hospital admissions in the upcoming year and improve his daily functioning at home...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29220156/ultrathin-n-doped-mo2c-nanosheets-with-exposed-active-sites-as-efficient-electrocatalyst-for-hydrogen-evolution-reactions
#3
Jin Jia, Tanli Xiong, Lili Zhao, Fulei Wang, Hong Liu, Renzong Hu, Jian Zhou, Weijia Zhou, Shaowei Chen
Probing competent electrocatalysts for hydrogen evolution reaction (HER) of water splitting is one of the most hopeful approach to front the energy and environmental crisis. Herein, we highlight ultrathin N-doped Mo2C nanosheets (N-Mo2C NSs) in the role of greatly efficient platinum-free-based electrocatalysts for the HER. The transformation of crystal phase and structure between MoO2 nanosheets with thickness of ~1.1 nm and N-Mo2C NSs with thickness of ~1.0 nm is detailed studied. Structural analyses make clear that the surfaces of the N-Mo2C NSs are absolutely encompassed of apical Mo atoms, hence affording an ideal catalyst prototype to expose the role of Mo atoms for the duration of HER catalysis...
December 8, 2017: ACS Nano
https://www.readbyqxmd.com/read/29219854/reconstruction-of-the-scapula-in-pediatric-and-adolescent-patients-after-total-scapulectomy-a-report-of-10-patients-treated-by-extracorporeal-irradiation-and-reimplantation-of-the-scapula
#4
Ahmed M El Ghoneimy, Mohamed S Zaghloul, Iman Zaky, Hala Taha, Ahmed Elgammal, Magdy El Sherbiny, Nehal Kamal
BACKGROUND: Ewing sarcoma of the scapula is uncommon. Restoration of shoulder function after total scapulectomy is challenging. Extracorporeal irradiation and reimplantation is a well-known method of biological reconstruction in orthopaedic oncology; yet very few reports in the literature describe its specific use in tumors of the scapula. PATIENTS AND METHODS: Ten patients with the diagnosis of Ewing sarcoma of the scapula were surgically treated by total scapulectomy and extracorporeal irradiation and reimplantation of the scapula...
December 6, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29218131/hypocalcemia-associated-with-subcutaneous-fat-necrosis-of-the-newborn-case-report-and-literature-review
#5
Alphonsus N Onyiriuka, Theodora E Utomi
Subcutaneous fat necrosis of the newborn (SCFNN) is a rare benign inflammatory disorder of the adipose tissue but may be complicated by hypercalcemia or less frequently, hypocalcemia, resulting in morbidity and mortality. Here we report the case of a neonate with subcutaneous fat necrosis who surprisingly developed hypocalcemia instead of hypercalcemia. A full-term female neonate was delivered by emergency cesarean section for fetal distress and was subsequently admitted to the Special Care Baby Unit. The mother's pregnancy was uncomplicated up to delivery...
November 2017: Oman Medical Journal
https://www.readbyqxmd.com/read/29216238/mother-infant-interaction-assessment-at-discharge-and-at-6-months-in-a-french-cohort-of-infants-born-very-preterm-the-olimpe-study
#6
Gilles Cambonie, Jean-Baptiste Muller, Virginie Ehlinger, Joël Roy, Antoine Guédeney, Cécile Lebeaux, Monique Kaminski, Corine Alberge, Sophie Denizot, Pierre-Yves Ancel, Catherine Arnaud
OBJECTIVES: The principal aim was to investigate the feasibility of assessing mother-infant interactions at discharge and at 6 months infant corrected age in singletons born before 32 weeks of gestation. The secondary aims were to describe these interactions and their disorders, explore the association between maternal emotional state and the interactions, and assess the relationship between disordered interactions and infant social withdrawal behaviour. METHODS: OLIMPE is an ancillary study of the population-based study EPIPAGE 2, which recruited preterm neonates in France in 2011...
2017: PloS One
https://www.readbyqxmd.com/read/29215521/pregnancy-after-uterine-rupture
#7
Nicole A Larrea, Torri D Metz
A 28-year-old woman, gravida 3 para 2, with two previous cesarean deliveries presents for prenatal care. Her second pregnancy was complicated by a uterine rupture at 36 weeks of gestation. She asks, "When should I be delivered during the current pregnancy?"
December 4, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29215399/hemorrhage-of-liver-and-bone-metastases-as-a-result-of-rapid-response-to-dual-braf-mek-inhibition-in-metastatic-melanoma-a-case-report
#8
Tine Loyson, Emilie Werbrouck, Kevin Punie, Lawrence Bonne, Vincent Vandecaveye, Oliver Bechter
Combination therapy using a BRAF and MEK inhibitor significantly improves both progression-free and overall survival in patients with BRAF V600-mutated stage IV melanoma. Dual MAPK inhibition achieves an objective response in the majority of patients. We present a case of a woman with BRAF V600E-mutated malignant melanoma and rapidly progressing liver, bone, and lymph node metastases. The patient commenced dabrafenib and trametinib with clinical and biochemical signs of response after 2 days. On day 3 she developed grade 3 liver hemorrhage, which was successfully embolized...
December 5, 2017: Melanoma Research
https://www.readbyqxmd.com/read/29214049/latent-autoimmune-diabetes-of-adulthood-case-report
#9
Cristen P Page, Brian Fitzgerald, Emily M Hawes
Background: Primary care clinicians will see a higher incidence of type 2 diabetes in adult patients, and the diagnosis and management of an initial presentation of type 1 diabetes can pose challenges to clinicians who see it less frequently. Symptoms of hyperglycemia and risk of ketoacidosis may be missed. Further, endocrine autoimmune disease can run together in patients and families. Case presentation: A 49-year-old Caucasian female with history of pituitary adenoma and Graves' disease with history of thyroid ablation presented in the outpatient setting due to hand tingling of her right middle finger that was worse in the mornings and improved throughout the day...
2017: Clinical Diabetes and Endocrinology
https://www.readbyqxmd.com/read/29212862/ataxia-with-oculomotor-apraxia-type-2-an-evolving-axonal-neuropathy
#10
Tahira N Choudry, David Hilton-Jones, Graham Lennox, Henry Houlden
A 23-year-old woman had presented initially to a podiatrist complaining of poorly fitting shoes during her adolescence. After extensive neurological review, she was diagnosed with ataxia with oculomotor apraxia type 2. This is a progressive autosomal recessive ataxia associated with cerebellar atrophy, peripheral neuropathy and an elevated serum α-fetoprotein. Within Europe, it is the most frequent autosomal recessive ataxia after Friedreich's ataxia and is due to mutations in the senataxin (SETX) gene. The age of onset is approximately 15 years...
December 6, 2017: Practical Neurology
https://www.readbyqxmd.com/read/29210991/self-supported-ni-p-o-x%C3%A2-moox-nanowire-array-on-nickel-foam-as-an-efficient-and-durable-electrocatalyst-for-alkaline-hydrogen-evolution
#11
Wei Hua, Huanyan Liu, Jian-Gan Wang, Bingqing Wei
Earth-abundant and low-cost catalysts with excellent electrocatalytic hydrogen evolution reaction (HER) activity in alkaline solution play an important role in the sustainable production of hydrogen energy. In this work, a catalyst of Ni(P, O)x·MoOx nanowire array on nickel foam has been prepared via a facile route for efficient alkaline HER. Benefiting from the collaborative advantages of Ni(P, O)x and amorphous MoOx, as well as three-dimensional porous conductive nickel scaffold, the hybrid electrocatalyst shows high catalytic activity in 1 M KOH aqueous solution, including a small overpotential of 59 mV at 10 mA cm-2, a low Tafel slope of 54 mV dec-1, and excellent cycling stability...
December 6, 2017: Nanomaterials
https://www.readbyqxmd.com/read/29209571/complete-regression-of-cutaneous-metastases-with-systemic-immune-response-in-a-patient-with-triple-negative-breast-cancer-receiving-p53mva-vaccine-with-pembrolizumab
#12
Yuan Yuan, Ferdynand J Kos, Ting-Fang He, Hongwei H Yin, Mengsha Li, Nicola Hardwick, Kathryn Zurcher, Daniel Schmolze, Peter Lee, Raju K Pillai, Vincent Chung, Don J Diamond
A heavily pretreated patient with triple negative breast cancer distinguished by cutaneous metastases received p53MVA vaccine in combination with pembrolizumab. Her cutaneous metastases regressed and after 2 cycles of therapy, a skin biopsy showed a complete pathological response. Systemic response was confirmed with restaging CT and bone scans. Activation of p53-specific T cell responses and elevation of multiple immune response genes in peripheral blood correlated with the rapid clinical response which lasted for 6 months after the initiation of combined therapy...
2017: Oncoimmunology
https://www.readbyqxmd.com/read/29209236/implementation-intention-for-initiating-intuitive-eating-and-active-embodiment-in-obese-patients-using-a-smartphone-application
#13
Damien Brevers, Anne Rogiers, Alexis Defontaine, Guy Cheron, Anne-Marie Clarinval, Jennifer Foucart, Anne Bouchez, Véronique Bolly, Laura Tsartsafloudakis, Pénélope Jottrand, Pierre Minner, Antoine Bechara, Charles Kornreich, Paul Verbanck
This article describes a study protocol, which aims to explore and describe the feasibility of a mobile-phone application for initiating intuitive eating and intuitive exercising in patients who are following an ambulatory treatment for obesity. Intuitive eating refers to one's ability to make food choices based on one's awareness of his/her body's response. Intuitive exercising encourages people in finding enjoyable ways of being physically active. These two components will be trained using an implementation intention procedure, that is, behavioral plans that aim at creating a strong link between a specified situation and a response...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/29207712/role-of-her-2-neu-in-premalignant-and-malignant-lesions-of-uterine-cervix
#14
Swasti Bajpai, Seema Awasthi, Shyamoli Dutta, Ankita Mittal, Ashutosh Kumar, Faiyaz Ahmad
Introduction: In light of literature and controversy that exists in various cervical lesions, this prospective study was designed to explore the expression of Human Epidermal Growth Factor Receptor-2 (HER-2/neu) in the cervical lesions and its correlation with the histopathological grade and type of tumour. Immunohistochemistry (IHC) was performed to evaluate HER-2/neu expression as it is the most reliable method of detecting overexpression of HER-2/neu. Aim: To assess the role of HER-2/neu expression in premalignant and malignant lesions of uterine cervix...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29207674/genetic-polymorphisms-in-caveolin-1-associate-with-breast-cancer-risk-in-chinese-han-population
#15
Meng Wang, Tian Tian, Xiaobin Ma, Wenge Zhu, Yan Guo, Zhao Duan, Jiangbo Fan, Shuai Lin, Kang Liu, Yi Zheng, Qianwen Sheng, Zhi-Jun Dai, Huixia Peng
Caveolin-1(CAV-1) was demonstrated to be a tumor suppressor gene and be implicated in the development of breast cancer (BC). Numerous potentially functional polymorphisms in CAV-1 have been identified, but their effects on BC were not clear. This case-control study aims to evaluate the relationship between CAV-1 polymorphisms and BC risk. 560 BC patients and 583 healthy controls were enrolled in the present study, all from Chinese Han population. We detected 3 single nucleotide polymorphisms (rs3807987, rs1997623, and rs7804372) in CAV-1 using the Sequenom MassARRAY method...
October 31, 2017: Oncotarget
https://www.readbyqxmd.com/read/29207237/proteins-and-proteoforms-new-separation-challenges
#16
Fred E Regnier, JinHee Kim
The ancient Greeks attributed life to Mother Nature; complaining that she was fond of hiding the workings of her creations. Although we no longer attribute the mysteries of life to Mother Nature, multiple facets of living systems still evade us. The complexity of the human proteome and proteoform families are examples. Until recently we believed that each of the ~20,000 protein-coding genes in humans produced a single protein ; assuming this small number of proteins was sufficient to sustain life. Wrong! We were off by 1-2 orders of magnitude...
December 5, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/29205794/biallelic-mutations-in-lars2-can-cause-perrault-syndrome-type-2-with-neurologic-symptoms
#17
Rika Kosaki, Reiko Horikawa, Eriko Fujii, Kenjiro Kosaki
Perrault syndrome represents a genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and ovarian dysfunction in females. Causative genes include HARS2, HSD17B4, CLPP, C10orf2, and LARS2. Some patients with Perrault syndrome exhibit neurologic features including learning disability, cerebellar ataxia, and peripheral neuropathy and are classified as type 2 and are clinically separate from those without neurological symptoms other than a hearing loss (type 1). To date, all reported patients with LARS2 mutations (15 patients in 8 families) have been classified as type 1...
December 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29204849/human-intestinal-spirochetosis-mimicking-ulcerative-colitis
#18
Shin Nishii, Masaaki Higashiyama, Sho Ogata, Shunsuke Komoto, Suguru Ito, Akinori Mizoguchi, Hisato Terada, Hirotaka Furuhashi, Takeshi Takajo, Kazuhiko Shirakabe, Chikako Watanabe, Kengo Tomita, Shigeaki Nagao, Soichiro Miura, Ryota Hokari
Human intestinal spirochetosis (HIS) is a colorectal infection caused by the Brachyspira species of intestinal spirochetes, whose pathogenicity in humans remains unclear owing to the lack of or mild symptoms. We monitored the 5-year clinical course of a woman diagnosed with HIS in whom ulcerative colitis (UC) had been suspected. Following a positive fecal occult blood test, she underwent a colonoscopic examination at a local clinic where she was diagnosed with "right-sided" UC concomitant with incidentally detected HIS, and was referred to our hospital...
December 4, 2017: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/29204299/diabetes-mellitus-secondary-to-acute-pancreatitis-in-a-child-with-wolf-hirschhorn-syndrome
#19
Asma Deeb
Wolf-Hirschhorn Syndrome (WHS) is a rare genetic disease caused by deletion in the short arm of chromosome 4. It is characterized by typical fascial features and a varying degree of intellectual disabilities and multiple systemic involvement. Epidemiological studies confirmed the association of acute pancreatitis with the development of diabetes. However, this association has not been reported in WHS. We report an 18-year-old girl with WHS who presented acutely with nonketotic Hyperglycemic Hyperosmolar Status (HHS) in association with severe acute pancreatitis...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/29203308/magnetic-resonance-imaging-undetectable-epiduroscopic-hotspot-in-chronic-discogenic-back-pain-does-sinuvertebral-neuropathy-actually-exists
#20
Sung Ho Choi, Nitin Adsul, Hyeun Sung Kim, Jee-Soo Jang, Il-Tae Jang, Seong-Hoon Oh
BACKGROUND: The causes of chronic discogenic back pain have not yet been clearly identified. Neural ingrowth around the annulus is widely considered to be one of the possible cause. However, neuropathy around the annulus has yet to be observed visually. We report a case of a hotspot that was observed in an epiduroscopic view, but not in imaging findings. CASE DESCRIPTION: A 46-year-old woman was admitted with pain in the back, left buttock, and posterior thigh for 2 years...
December 1, 2017: World Neurosurgery
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