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https://www.readbyqxmd.com/read/28549769/variations-in-the-cerebrospinal-fluid-proteome-following-traumatic-brain-injury-and-subarachnoid-hemorrhage
#1
David E Connor, Ganta V Chaitanya, Prashant Chittiboina, Paul McCarthy, L Keith Scott, Lisa Schrott, Alireza Minagar, Anil Nanda, J Steven Alexander
BACKGROUND: Proteomic analysis of cerebrospinal fluid (CSF) has shown great promise in identifying potential markers of injury in neurodegenerative diseases [1-13]. Here we compared CSF proteomes in healthy individuals, with patients diagnosed with traumatic brain injury (TBI) and subarachnoid hemorrhage (SAH) in order to characterize molecular biomarkers which might identify these different clinical states and describe different molecular mechanisms active in each disease state. METHODS: Patients presenting to the Neurosurgery service at the Louisiana State University Hospital-Shreveport with an admitting diagnosis of TBI or SAH were prospectively enrolled...
May 13, 2017: Pathophysiology: the Official Journal of the International Society for Pathophysiology
https://www.readbyqxmd.com/read/28548964/the-value-of-phosphohistone-h3-as-a-proliferation-marker-for-evaluating-invasive-breast-cancers-a-comparative-study-with-ki67
#2
Ji-Ye Kim, Hyang Sook Jeong, Taek Chung, Moonsik Kim, Ji Hee Lee, Woo Hee Jung, Ja Seung Koo
BACKGROUND: Established measurements of proliferation in breast cancer are Ki67 and mitotic-activity-index (MAI), with problems in reproducibility and prognostic accuracy. Phosphohistone H3 (PHH3), a relatively novel IHC marker is specific for mitosis with good reproducibility. We hypothesized that PHH3 would be more reproducible and better represent proliferation than Ki67. RESULTS: PHH3 identified easily-missed mitosis by MAI, as demonstrated by upgrading M grade at diagnosis (n = 29/218, evenly distributed)...
May 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/28543876/application-of-molecular-microbiological-and-immunological-tests-for-the-diagnosis-of-bone-and-joint-tuberculosis
#3
Yinghua Tang, Lianli Yin, Shifu Tang, Hongyu Zhang, Jihui Lan
BACKGROUND: To evaluate the application of interferon gamma release assay (IGRA), rifampicin resistant real-time fluorescence quantitative PCR technique Xpert Mycobacterium tuberculosis/rifampicin (Xpert MTB/RIF), and the levels of TNF-α and TGF-β in the diagnosis of bone and joint tuberculosis. METHODS: Eighty-six patients with bone and joint tuberculosis, diagnosed by pathology or microbiology, were examined by Xpert MTB/RIF and IGRA (T-SPOT. TB) for Mycobacterium tuberculosis infection, and the TNF-α and TGF-β levels of the patients were measured...
May 22, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28542346/novel-mutations-in-col4a3-col4a4-and-col4a5-in-chinese-patients-with-alport-syndrome
#4
Jian-Hong Liu, Xiu-Xiu Wei, Ang Li, Ying-Xia Cui, Xin-Yi Xia, Wei-Song Qin, Ming-Chao Zhang, Er-Zhi Gao, Jun Sun, Chun-Lin Gao, Feng-Xia Liu, Qiu-Yue Wu, Wei-Wei Li, Asan, Zhi-Hong Liu, Xiao-Jun Li
Alport syndrome (AS) is a clinically and genetically heterogeneous, progressive nephropathy caused by mutations in COL4A3, COL4A4, and COL4A5, which encode type IV collagen. The large sizes of these genes and the absence of mutation hot spots have complicated mutational analysis by routine polymerase chain reaction (PCR)-based approaches. Here, in order to design a rapid and effective method for the genetic diagnosis of AS, we developed a strategy by utilizing targeted capture associated with next-generation sequencing (NGS) to analyze COL4A3, COL4A4, and COL4A5 simultaneously in 20 AS patients...
2017: PloS One
https://www.readbyqxmd.com/read/28540636/gm2-activator-deficiency-caused-by-a-homozygous-exon-2-deletion-in-gm2a
#5
Patricia L Hall, Regina Laine, John J Alexander, Arunkanth Ankala, Lisa A Teot, Hart G W Lidov, Irina Anselm
GM2 activator (GM2A) deficiency (OMIM 613109) is a rare lysosomal storage disorder, with onset typically in infancy or early childhood. Clinically, it is almost indistinguishable from Tay-Sachs disease (OMIM 272800) or Sandhoff disease (OMIM 268800); however, traditionally available biochemical screening tests will most likely reveal normal results. We report a 2-year-old male with initially normal development until the age of 9 months, when he presented with developmental delay and regression. Workup at that time was unrevealing; at 15 months, he had abnormal brain MRI findings and a cherry red spot on ophthalmological examination...
May 25, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28532785/best-practice-in-the-measurement-and-interpretation-of-lysosomal-acid-lipase-in-dried-blood-spots-using-the-inhibitor-lalistat-2
#6
Zoltan Lukacs, Marianne Barr, John Hamilton
Lysosomal acid lipase deficiency (LAL-D) is an inherited, autosomal recessive lysosomal storage disorder characterized by progressive damage in multiple organ systems. Diagnosis is especially important in infants, in whom the course of disease is rapidly lethal without treatment. The recent regulatory approval of recombinant human lysosomal acid lipase (LAL), sebelipase alfa, merits rapid diagnosis in clinical routine, particularly in infants. A method for measuring LAL activity in dried blood spot (DBS) samples using the highly specific LAL inhibitor Lalistat 2 is available...
May 19, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28530061/-purpuric-mycosis-fungoides
#7
Boaz Amichai, Boaz Gabay, Mario Cordoba, Deborah Kidron, Marcelo Grunwald
A 26-year-old female presented with 4-years duration of asymptomatic spots on her left leg. She was otherwise healthy. On examination several purpuric patches up to 3 cm. in diameter were found on the flexure aspect of her left leg. Histological examination revealed lymphocytic infiltrate, with mild atypia, with red blood cell extravasation and hemosiderin deposition in the papillary dermis. The clinical and histological findings were compatible with the diagnosis of early stage purpuric mycosis fungoides (MF)...
October 2016: Harefuah
https://www.readbyqxmd.com/read/28528327/three-quarters-adrenalectomy-for-infantile-onset-cushing-syndrome-due-to-bilateral-adrenal-hyperplasia-in-mccune-albright-syndrome
#8
Tomoyo Itonaga, Hironori Goto, Manabu Toujigamori, Yasuharu Ohno, Seigo Korematsu, Tatsuro Izumi, Satoshi Narumi, Tomonobu Hasegawa, Kenji Ihara
BACKGROUND: Bilateral adrenalectomy is performed in cases with infantile-onset Cushing syndrome due to bilateral adrenal hyperplasia in McCune-Albright syndrome (MAS) because severe Cushing syndrome with heart failure and liver dysfunction can have a lethal outcome. This procedure can completely ameliorate hypercortisolism, although lifetime steroid replacement therapy and steps to prevent adrenal crisis are necessary. Recently, the efficacy of unilateral adrenalectomy has been reported in adult cases of bilateral macronodular adrenal hyperplasia, but there is no consensus regarding the appropriate surgical treatment for bilateral adrenal hyperplasia in MAS...
May 19, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28527155/status-of-laparoscopic-sleeve-gastrectomy-in-china-a-national-survey
#9
Shibo Lin, Wei Guan, Pankaj Hans, Hui Liang
BACKGROUND: Laparoscopic sleeve gastrectomy (LSG) is a favorable bariatric procedure. This study evaluated the status of LSG in China. METHODS: During the 4(th) International Forum of Bariatric and Metabolic Surgery in May 2016, Nanjing China, an on-the-spot questionnaire was filled out by 105 attending surgeons with experience of LSG. The feedback data was collected and analyzed. RESULTS: For preoperative preparations, surgeons preferred blood glucose control with insulin (61...
May 19, 2017: Obesity Surgery
https://www.readbyqxmd.com/read/28526661/the-parasol-protocol-an-implementation-science-study-of-hiv-continuum-of-care-interventions-for-gay-men-and-transgender-women-in-burma-myanmar
#10
Andrea L Wirtz, Soe Naing, Emily Clouse, Kaung Htet Thu, Sandra Hsu Hnin Mon, Zin Min Tun, Stefan Baral, Aung Zayar Paing, Chris Beyrer
BACKGROUND: Efforts to improve HIV diagnosis and antiretroviral therapy (ART) initiation among people living with HIV and reduce onward transmission of HIV rely on innovative interventions along multiple steps of the HIV care continuum. These innovative methods are particularly important for key populations, including men who have sex with men (MSM) and transgender women (TW). The HIV epidemic in Myanmar is concentrated among key populations, and national efforts now focus on reducing stigma and improving engagement of MSM and TW in HIV prevention and care...
May 17, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28516040/a-newborn-case-with-carnitine-palmitoyltransferase-ii-deficiency-initially-judged-as-unaffected-by-acylcarnitine-analysis-soon-after-birth
#11
Kenji Yamada, Ryosuke Bo, Hironori Kobayashi, Yuki Hasegawa, Mako Ago, Seiji Fukuda, Seiji Yamaguchi, Takeshi Taketani
Carnitine palmitoyltransferase II (CPT-2) deficiency, an autosomal recessive disorder of fatty acid oxidation, can be detected by newborn screening using tandem mass spectrometry (TMS). Our case was a boy born at 38 weeks and 6 days of gestation via normal vaginal delivery; his elder sister was affected with CPT-2 deficiency. Acylcarnitine (AC) was analyzed in both dried blood spots (DBS) and serum 2 h after birth to determine whether the boy was also affected. His C16 and C18:1 AC levels in DBS were in the normal range, while his serum long-chain AC levels were marginally increased but lower than those of his sister...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28514805/expression-and-histopathological-significance-of-disabled-2-in-aldosterone-producing-adenoma
#12
Ping Li, Min Zhang, Jian-Qiang Ma, Qi Sun, Guang-Xiang Liu, Xiao-Zhi Zhao, Wen-Huan Feng, Shan-Mei Shen, Hong-Qian Guo, Da-Long Zhu
The current pathological diagnosis of aldosterone-producing adenoma (APA) is challenging because no histological markers of aldosterone production are available in routine practice. A previous study demonstrated that Disabled-2 (DAB2) is a specific marker of the zona glomerulosa (ZG) in rodents. The aim of the present study was to investigate the significance of immunohistochemical staining to detect DAB2 in the adrenal tissue of patients with APA. We investigated the expression of DAB2 in 36 adrenal glands with APA, 23 adrenal glands with cortisol-producing adenoma (CPA), and 33 adrenal glands with non-functioning adenoma (NFA)...
May 17, 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/28512506/case-of-primary-leptomeningeal-lymphoma-presenting-with-papilloedema-and-characteristics-of-pseudotumor-syndrome
#13
Mai Takagi, Hidehiro Oku, Teruyo Kida, Toshikazu Akioka, Tsunehiko Ikeda
The authors describe an immunocompetent, 50-year-old man who complained of a daily transient blurring of his vision with bilateral papilloedema. His visual acuity was 20/20 OU, and the blind spot was enlarged bilaterally. There was intracranial hypertension, but imaging for systemic and brain tumours were negative. These findings suggested a diagnosis of the pseudotumor syndrome. However, MRI showed leptomeningeal enhancement, and acetazolamide successfully resolved his visual symptoms and papilloedema. Cytology and flow cytometry of the CSF led to the final diagnosis of primary leptomeningeal lymphoma (PLML)...
June 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28511610/women-without-vulvodynia-can-have-a-positive-q-tip-test-a-cross-sectional-study
#14
Pedro Vieira-Baptista, Joana Lima-Silva, Jorge Beires, Gilbert Donders
BACKGROUND: Vulvodynia is a frequently missed pathology, often confused with vaginismus. The Q-tip test (QTT) is fundamental for the diagnosis; however, there is lack of data about its performance in asymptomatic women. OBJECTIVE: This study intended to evaluate the QTT for painful vestibular spots in asymptomatic women. METHODS: Q-tips were gently pressed at different areas of the vulvar vestibule to obtain a 0-10 score representing the pain felt...
May 17, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28511066/deep-image-mining-for-diabetic-retinopathy-screening
#15
Gwenolé Quellec, Katia Charrière, Yassine Boudi, Béatrice Cochener, Mathieu Lamard
Deep learning is quickly becoming the leading methodology for medical image analysis. Given a large medical archive, where each image is associated with a diagnosis, efficient pathology detectors or classifiers can be trained with virtually no expert knowledge about the target pathologies. However, deep learning algorithms, including the popular ConvNets, are black boxes: little is known about the local patterns analyzed by ConvNets to make a decision at the image level. A solution is proposed in this paper to create heatmaps showing which pixels in images play a role in the image-level predictions...
April 28, 2017: Medical Image Analysis
https://www.readbyqxmd.com/read/28506054/-penile-tuberculosis-a-case-report
#16
Takahiro Imanaka, Hironori Nomura, Go Tsujimura, Yoko Ko, Takanori Kinjyo, Iwao Yoshioka, Shingo Takada, Yoko Yahata, Tetsu Mizutani
A 66-year-old man presented with a chief complaint of glans penis pain, induration, and discharge of pus. He was prescribed a course of antibiotics, but the condition persisted despite treatment. Thus, we differrentially diagnosed the patient with penile tuberculosis and pyoderma gangrenosum, and performed a biopsy of the penis. The biopsy result was thickening of the horny layer epidermis with only a foreign body granuloma composed of inflammatory cells, and did not lead to a definitive diagnosis. Thoraca-abdominal computed tomography revealed axillary lymphadenopathy with necrosis...
April 2017: Hinyokika Kiyo. Acta Urologica Japonica
https://www.readbyqxmd.com/read/28503822/constitutional-mismatch-repair-deficiency-in-a-healthy-child-on-the-spot-diagnosis
#17
M Suerink, T P Potjer, A B Versluijs, S W Ten Broeke, C M Tops, K Wimmer, M Nielsen
Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer predisposition syndrome caused by bi-allelic germline mutations in one of the mismatch repair genes. The CMMRD phenotype overlaps with that of neurofibromatosis type 1 (NF1), since many patients have multiple café-au-lait macules (CALM) and other NF1 signs, but no germline NF1 mutations. We report of a case of a healthy six-year-old girl who fulfilled the diagnostic criteria of NF1 with >6 CALM and freckling...
May 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28495949/the-central-bright-spot-sign-a-potential-new-mr-imaging-sign-for-the-early-diagnosis-of-anterior-ischemic-optic-neuropathy-due-to-giant-cell-arteritis
#18
P Remond, A Attyé, A Lecler, L Lamalle, N Boudiaf, F Aptel, A Krainik, C Chiquet
BACKGROUND AND PURPOSE: A rapid identification of the etiology of anterior ischemic optic neuropathy is crucial because it determines therapeutic management. Our aim was to assess MR imaging to study the optic nerve head in patients referred with anterior ischemic optic neuropathy, due to either giant cell arteritis or the nonarteritic form of the disease, compared with healthy subjects. MATERIALS AND METHODS: Fifteen patients with giant cell arteritis-related anterior ischemic optic neuropathy and 15 patients with nonarteritic anterior ischemic optic neuropathy from 2 medical centers were prospectively included in our study between August 2015 and May 2016...
May 11, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28493328/screening-of-181-patients-with-antibody-deficiency-for-deficiency-of-adenosine-deaminase-2-sheds-new-light-on-the-disease-in-adulthood
#19
Johanna Schepp, Michele Proietti, Natalie Frede, Mary Buchta, Katrin Hübscher, Jessica Rojas Restrepo, Sigune Goldacker, Klaus Warnatz, Jana Pachlopnik Schmid, Andrea Duppenthaler, Vassilios Lougaris, Ignacio Uriarte, Susan Kelly, Michael Hershfield, Bodo Grimbacher
OBJECTIVE: We aimed to test the relevance of Deficiency of Adenosine Deaminase 2 in patients with antibody deficiency and describe the clinical picture of the disease in adulthood. METHODS: We screened for DADA2 in a cohort of 181 patients with antibody deficiency with and without vascular lesions by the means of Next-Generation-Sequencing and targeted Sanger Sequencing. All mutations were confirmed by determining the ADA2 enzymatic activity levels in dried plasma spots...
May 10, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28491211/-rickettsiosis-associated-with-cerebral-infarction-a-new-case-study
#20
Tarik Boulahri, Abdellah Taous, Maha Aït Berri, Imane Traibi, Jalal Elbenaye, Abdelhadi Rouimi
Mediterranean spotted fever (MSF) is a rickettsiosis of the spotted fever group caused by rickettsia conorii. This zoonosis is benign but it can be complicated by severe neurological impairment (hence its severity). We report the case of a 49-year old patient hospitalized in the Department of Dermatology for rickettsiosis, who suffered from right massive hemiplegia of brutal onset. Magnetic resonance angiography (MRA) of the brain showed deep left sylvian fissure ischemic stroke. The diagnosis of conorii-type rickettsiosis has been retained based on the aspect of skin lesions and on positive sierologic testing with the indirect immunofluorescence method...
2017: Pan African Medical Journal
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