keyword
MENU ▼
Read by QxMD icon Read
search

her 2

keyword
https://www.readbyqxmd.com/read/28214109/a-novel-mutation-in-trem2-gene-causing-nasu-hakola-disease-and-review-of-the-literature
#1
Efthimios Dardiotis, Vasileios Siokas, Eva Pantazi, Maria Dardioti, Dimitrios Rikos, Georgia Xiromerisiou, Aikaterini Markou, Dimitra Papadimitriou, Matthaios Speletas, Georgios M Hadjigeorgiou
Nasu-hakola disease (NHD) is a rare disease characterized by bone cysts and fractures, frontal lobe syndrome, and progressive presenile dementia. NHD may be the prototype of primary microglial disorders of the CNS or, as they have been coined, "microgliopathies". Mutations in TREM2 and TYROBP genes are known to cause NHD. Interestingly, recent evidence-associated rare genetic variants of TREM2 gene with increased risk of Alzheimer's disease, frontotemporal dementia, amyotrophic lateral sclerosis, and Parkinson's disease...
January 20, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28214007/-impact-of-her2%C3%A2-and-brca1-2%C3%A2-status-in-high-dose-chemotherapy-and-autologous-stem-cells-transplantation-in-the-treatment-of-breast-cancer-the-institut-paoli-calmettes-experience
#2
Laurys Boudin, Christian Chabannon, Patrick Sfumato, Renaud Sabatier, François Bertucci, Carole Tarpin, Magali Provansal, Gilles Houvenaeghel, Eric Lambaudie, Agnes Tallet, Michel Resbeut, Emmanuelle Charafe-Jauffret, Boris Calmels, Claude Lemarie, Jean-Marie Boher, Jean-Marc Extra, Patrice Viens, Anthony Gonçalves
INTRODUCTION: Studies evaluating chemotherapy high dose chemotherapy with autologous haematopoietic stem cell transplantation (HDC-ACSH) in the treatment of metastatic (MBC), locally advanced (LABC) and inflammatory (IBC) breast cancer have in common lack of biomarker information, in particular the HER2 status. PATIENTS AND METHODS: All consecutive female patients treated for breast cancer with HDC and AHSCT at Institut Paoli Calmettes between 2003 and 2012 were included...
February 14, 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/28213796/the-manchester-repair-an-instructional-video
#3
Caroline E Walsh, Lin L Ow, N Rajamaheswari, Peter L Dwyer
OBJECTIVE: The Manchester repair, developed in the UK by Donald, described in 1908, and later modified by Fothergill, is a well-studied and proven surgical treatment for uterovaginal prolapse when uterine preservation is desired. This operation is currently not widely performed in parts of the world (USA) but is becoming increasing popular in Europe. The objective of this video is to demonstrate our surgical technique and recommendations for successful completion of the procedure. METHODS: This patient is a 39-year-old woman with two previous vaginal deliveries who presented with a 1-year history of vaginal protrusion...
February 17, 2017: International Urogynecology Journal
https://www.readbyqxmd.com/read/28212996/analysis-of-a-panel-of-druggable-gene-mutations-and-of-alk-and-pd-l1-expression-in-a-series-of-thymic-epithelial-tumors-tets
#4
Marcello Tiseo, Angela Damato, Lucia Longo, Fausto Barbieri, Federica Bertolini, Alessandro Stefani, Mario Migaldi, Letizia Gnetti, Roberta Camisa, Paola Bordi, Sebastiano Buti, Giulio Rossi
INTRODUCTION: Thymic epithelial tumors (TETs) are rare neoplasms with different prognosis lacking consistent molecular alterations possibly leading to targeted therapy. We collected a consecutive series of TETs aimed at investigating the mutational status of druggable genes (EGFR, c-KIT, KRAS, BRAF, PDGFR-alpha and -beta, HER2 and c-MET) and the expression of ALK and PD-L1. PATIENTS AND METHODS: One hundred twelve consecutive cases of TETs and relative clinico-pathologic features were collected...
February 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/28212655/elderly-onset-hereditary-pulmonary-alveolar-proteinosis-and-its-cytokine-profile
#5
Masayuki Ito, Kazuyuki Nakagome, Hiromitsu Ohta, Keiichi Akasaka, Yoshitaka Uchida, Atsushi Hashimoto, Ayako Shiono, Toshinori Takada, Makoto Nagata, Jun Tohyama, Koichi Hagiwara, Minoru Kanazawa, Koh Nakata, Ryushi Tazawa
BACKGROUND: Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by surfactant accumulation, and is caused by disruption of granulocyte/macrophage colony-stimulating factor (GM-CSF) signaling. Abnormalities in CSF2 receptor alpha (CSF2RA) were reported to cause pediatric hereditary PAP. We report here the first case of CSF2RA-mutated, elderly-onset hereditary (h) PAP. CASE PRESENTATION: The patient developed dyspnea on exertion, and was diagnosed with PAP at the age of 77 years, based on findings from chest computed tomography scan and bronchoalveolar lavage...
February 17, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28212124/extracranial-meningioma-presenting-as-an-eyebrow-mass
#6
Do Hun Lee, Ho Seup Sim, Jae Ha Hwang, Kwang Seog Kim, Sam Yong Lee
Meningiomas originate in the central nervous system and are the most common intracranial benign tumor. However, although rarely, they can develop extracranially. Primary extracranial meningiomas are frequently misdiagnosed, resulting in inappropriate clinical management. The most common sites of extracranial meningiomas include the skull, scalp, orbit, nose, paranasal sinuses, middle ear, neck, and skin. A 77-year-old woman presented with a mass on her left eyebrow. Computed tomography revealed an enhancing soft tissue mass in the left frontal area...
February 16, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28211548/the-33-item-hypomania-checklist-hcl-33-a-study-of-the-consistency-between-self-and-external-assessments-in-polish-bipolar-patients
#7
Dorota Łojko, Dominika Dudek, Jules Angst, Marcin Siwek, Michał Michalak, Janusz Rybakowski
OBJECTIVES: The Hypomania Checklist (HCL) has become an important tool for the assessment of hypomanic symptoms in patients with mood disorders and in the general population. The HCL-33 scale, containing 33 symptom items, is a new instrument which, in addition to the self-administered questionnaire, has a version for external rating. The aim of this study is to evaluate the consistency between the self - and external assessments using the HCL-33 in Polish patients with bipolar disorder...
December 23, 2016: Psychiatria Polska
https://www.readbyqxmd.com/read/28210183/intraocular-lens-power-overestimation-in-a-patient-with-history-of-circling-keratorraphy
#8
Vasilios F Diakonis, Nilufer Yesilirmak, George D Kymionis, Sonia H Yoo
We report a case of cataract extraction and intraocular lens (IOL) power overestimation in a patient with history of hyperopia managed with circling keratorraphy. A 65-year-old female presented to our institute complaining of decreased vision in both eyes. The patient had a history of bilateral hyperopia that was managed 20 years ago (1994) with circling keratorraphy. At presentation her uncorrected distance visual acuity (UDVA) was 20/70 and 20/60 in her right eye (OD) and left eye (OS), respectively, while her corrected distance visual acuity (CDVA) was 20/25 OD and 20/25 OS with manifest refraction of -0...
July 2016: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/28209325/japanese-guidelines-for-atopic-dermatitis-2017
#9
REVIEW
Ichiro Katayama, Michiko Aihara, Yukihiro Ohya, Hidehisa Saeki, Naoki Shimojo, Shunsuke Shoji, Masami Taniguchi, Hidekazu Yamada
Given the importance of appropriate diagnosis and appropriate assessment of cutaneous symptoms in treatment of atopic dermatitis, the basics of treatment in this guideline are composed of (1) investigation and countermeasures of causes and exacerbating factors, (2) correction of skin dysfunctions (skin care), and (3) pharmacotherapy, as three mainstays. These are based on the disease concept that atopic dermatitis is an inflammatory cutaneous disease with eczema by atopic diathesis, multi-factorial in onset and aggravation, and accompanied by skin dysfunctions...
February 10, 2017: Allergology International: Official Journal of the Japanese Society of Allergology
https://www.readbyqxmd.com/read/28208987/bcl6-mrna-expression-level-in-invasive-duct-carcinoma-not-otherwise-specified
#10
Eman Badr, Eman Masoud, Asmaa Gaber Abdou, Marwa Serag Eldien
INTRODUCTION: B-Cell Lymphoma 6 (BCL6) has an oncogenic role in tumourigenesis of various malignancies. It represses genes involved in terminal differentiation and plays complementary role with Signal Transducer and Activator of Transcription 3 (STAT3) in triple-negative breast cancer cellular function. AIM: To evaluate the expression of BCL6 in cancer breast and determine its correlation with the clinico-pathological features including the molecular subtype of breast carcinoma...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28208056/oral-rehabilitation-of-a-patient-with-ectodermal-dysplasia-treated-with-fresh-frozen-bone-allografts-and-computer-guided-implant-placement-a-clinical-case-report
#11
Carlo Maiorana, Pier Paolo Poli, Carlo Poggio, Paola Barbieri, Mario Beretta
Ectodermal dysplasia (ED) is an inherited disorder characterized by abnormality of ectodermally derived structures. A recurrent oral finding is oligodontia, which in turn leads to a severely hypotrophic alveolar process with typical knife-edge morphology and adverse ridge contours. This unfavorable anatomy can seriously hamper proper implant placement. Fresh-frozen bone (FFB) allografts recently have been proposed to augment the residual bone volume for implant placement purposes; however, scientific evidence concerning the use of FFB to treat ED patients is absent...
January 20, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28207671/a-silver-medal-winner-at-the-13th-world-wu-shu-championship-2015-17-months-after-selective-thoracic-fusion-for-adolescent-idiopathic-scoliosis-a-case-report
#12
Chris Yin Wei Chan, Izzuddin Aziz, Fong Wei Chai, Mun Keong Kwan
STUDY DESIGN: Case report. OBJECTIVE: To report the successful rehabilitation and the training progress of an elite high performance martial art exponent after selective thoracic fusion for Adolescent Idiopathic Scoliosis (AIS). SUMMARY OF BACKGROUND DATA: Posterior spinal fusion for AIS will result in loss of spinal flexibility. The process of rehabilitation after posterior spinal fusion for AIS remains controversial and there are few reports of return to elite sports performance after posterior spinal fusion for AIS...
February 15, 2017: Spine
https://www.readbyqxmd.com/read/28207431/successful-medical-management-of-presumptive-pythium-insidiosum-keratitis
#13
Muralidhar Ramappa, Ritu Nagpal, Savitri Sharma, Sunita Chaurasia
PURPOSE: To describe the previously unreported successful treatment of presumptive Pythium keratitis (PK) with medical therapy alone. METHODS: A 42-year-old female homemaker presented to us with a 15-day history of pain and redness in the right eye after a trivial injury. Her vision was 20/80 at presentation. Slit-lamp biomicroscopy revealed a central, dense and dry-looking, grayish-white infiltrate reaching mid stroma. The infiltrate had feathery margins and was surrounded by multiple tentacle-like lesions and peripherally expanding pinhead-sized subepithelial lesions...
February 15, 2017: Cornea
https://www.readbyqxmd.com/read/28206939/the-ferguson-operating-anoscope-for-resection-of-t1-rectal-cancer
#14
Kristin C Turza, Thomas Brien, Steven Porbunderwala, Christopher M Bell, Shauna Lorenzo-Rivero, Richard A Moore, Eric C Nelson, J Daniel Stanley
The Ferguson Operating Anoscope (FOA) is a surgical instrument, which can facilitate transanal excision of appropriate rectal tumors within 15 cm of the anal verge. Previous work showed low recurrence (4.3%) for favorable T1 tumors (no lymphovascular invasion, well/moderate differentiation, negative margins). This follow-up study evaluates outcomes in rectal cancer excised with FOA at a tertiary care center. T1 rectal cancer patients were identified in a prospectively maintained database. Tumor pathology and patient characteristics were reviewed...
November 1, 2016: American Surgeon
https://www.readbyqxmd.com/read/28203559/fulminant-course-in-a-case-of-malignant-phyllodes-tumor
#15
Young Woo Chang, Hwan Soo Kim, Deok Woo Kim, Gil Soo Son
We present the case of a 31-year-old woman with an inflammatory and ulcerative malignant phyllodes tumor in her right breast. A right modified radical mastectomy and transverse rectus abdominis myocutaneous (TRAM) flap were performed. A month after the initial operation, several masses recurred at the superior margin and deep margin of the TRAM flap. Wide excision was performed, but masses recurred at the inferior margin and in both lung fields 2 weeks after the second operation. Six weeks after the second operation, the patient died due to progression of dyspnea and respiratory failure...
February 2017: Annals of Surgical Treatment and Research
https://www.readbyqxmd.com/read/28203508/deltoid-compartment-syndrome-a-rare-complication-after-humeral-intraosseous-access
#16
Kishan M Thadikonda, Francesco M Egro, Irene Ma, Alexander M Spiess
We present a case of a 65-year-old woman who developed a delayed deltoid compartment syndrome after resuscitation via humeral intraosseous access. Initially she was treated conservatively but then was taken emergently for a fasciotomy. After confirming the diagnosis with compartment pressures, a 2-incision approach was employed and a large hematoma was evacuated from the inferior margin of the anterior deltoid. The rest of the deltoid was inspected and debrided to healthy bleeding tissue. Her fasciotomy wounds were left open to heal on their own due to her tenuous clinical condition...
January 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28203505/bilateral-sciatic-neuropathy-after-an-autologous-breast-reconstruction-in-a-massive-weight-loss-patient
#17
Ramy Abdel-Naby, Michael Ablavsky, Aleksandr Shteynberg
Perioperative compression neuropathy is a known potential complication of prolonged surgical procedures. Sciatic postoperative neuropathy has rarely been reported. We present a 34-year-old woman who underwent right breast reconstruction with supercharged (venous anastomosis) transverse rectus abdominis flap and developed bilateral sciatic compression neuropathy. Her history was remarkable for sleeve gastrectomy 2 years earlier resulting in 105 pound weight loss 1 year before breast reconstruction. During the procedure, the patient was in the supine position for 8 hours and in the semirecumbent position for an additional 2 hours with the torso flexed at 30 degrees and knees flexed at approximately 45 degrees in addition to standard padding...
January 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28203222/unexpected-death-of-a-child-with-complex-febrile-seizures-pathophysiology-similar-to-sudden-unexpected-death-in-epilepsy
#18
Brian J Dlouhy, Michael A Ciliberto, Christina L Cifra, Patricia A Kirby, Devin L Shrock, Marcus Nashelsky, George B Richerson
Febrile seizures are usually considered relatively benign. Although some cases of sudden unexplained death in childhood have a history of febrile seizures, no documented case of febrile seizure-induced death has been reported. Here, we describe a child with complex febrile seizures who died suddenly and unexpectedly after a suspected seizure while in bed at night during the beginning phases of sleep. She was resuscitated and pronounced brain dead 2 days later at our regional medical center. Autopsy revealed multiorgan effects of hypoperfusion and did not reveal an underlying (precipitating) disease, injury, or toxicological cause of death...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28203178/a-patient-with-supraclavicular-lymphadenopathy-and-anterior-mediastinal-mass-presenting-as-a-rare-case-of-composite-lymphoma-a-case-report-and-literature-review
#19
Alex Raufi, James Jerkins, Yung Lyou, Deepa Jeyakumar
Composite lymphoma (CL) is a rare disease with 2 distinct lymphomas concurrently arising in a single patient with an estimated incidence of 1-4.7% of newly diagnosed lymphomas per year. CL most commonly involves 2 B-cell non-Hodgkin lymphomas (NHL) or a B-cell NHL with a Hodgkin lymphoma. Our case is unique in that it was a bilineage CL with both a T-cell and B-cell NHL, which has only been reported in a few case reports. A 49-year-old woman presented with several months of progressive cough, weight loss, dyspnea, and supraclavicular lymphadenopathy...
September 2016: Case Reports in Oncology
https://www.readbyqxmd.com/read/28202600/neoteny-prolongation-of-youth-from-naked-mole-rats-to-naked-apes-humans
#20
REVIEW
Vladimir P Skulachev, Susanne Holtze, Mikhail Y Vyssokikh, Lora E Bakeeva, Maxim V Skulachev, Alexander V Markov, Thomas B Hildebrandt, Viktor A Sadovnichii
It has been suggested that highly social mammals, such as naked mole rats and humans, are long-lived due to neoteny (the prolongation of youth). In both species, aging cannot operate as a mechanism facilitating natural selection because the pressure of this selection is strongly reduced due to 1) a specific social structure where only the "queen" and her "husband(s)" are involved in reproduction (naked mole rats) or 2) substituting fast technological progress for slow biological evolution (humans). Lists of numerous traits of youth that do not disappear with age in naked mole rats and humans are presented and discussed...
April 2017: Physiological Reviews
keyword
keyword
1867
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"