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https://www.readbyqxmd.com/read/28429491/bringing-the-human-pancreas-into-focus-new-paradigms-for-the-understanding-of-type-1-diabetes
#1
REVIEW
N G Morgan
Type 1 diabetes affects increasingly large numbers of people globally (including at least half a million children under the age of 14 years) and it remains an illness with life-long and often devastating consequences. It is surprising, therefore, that the underlying aetiology of Type 1 diabetes remains poorly understood. This is largely because the cellular and molecular processes leading to the loss of β cells in the pancreas have rarely been studied at, or soon after, the onset of disease. Where such studies have been undertaken, a number of surprises have emerged which serve to challenge conventional wisdom...
April 20, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28420303/juvenile-papillomatosis-swiss-cheese-disease-of-breast-in-an-adult-male-with-sequential-diagnoses-of-ipsilateral-intraductal-invasive-and-widely-metastatic-carcinoma-a-case-report-and-review-of-the-disease-in-males
#2
Kartik Viswanathan, Brian McMillen, Esther Cheng, Timothy D'Alfonso, Ami Patel, Syed A Hoda
Juvenile papillomatosis of the breast (JPB, also known as Swiss cheese disease) is a rare ailment that typically afflicts young females, and presents as a mass-forming lesion. The lesional mass usually comprises multiple cysts and duct stasis, amid a variety of proliferative and nonproliferative epithelial changes. The proliferative changes include papillary hyperplasia, florid hyperplasia, and papillary apocrine hyperplasia. Concurrent carcinoma (either in situ or invasive) is present in approximately 10% of cases at presentation, and subsequent carcinoma (either in situ or invasive) is diagnosed in about 10% of patients...
April 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28389994/neuroendocrine-tumors-of-the-breast
#3
REVIEW
Daniel W Visscher, Saba Yasir
A small but increasingly recognized and studied subset of breast carcinomas are characterized by neuroendocrine (NE) differentiation. As with nearly all forms of breast neoplasia, NE tumors are characterized by considerable heterogeneity in microscopic appearance and clinical aggressiveness. About half of NE breast carcinomas recapitulate the histological spectrum typical of their counterparts in other organ systems, varying from "carcinoid-like" to small cell carcinoma, with most representing intermediate grade tumors...
April 8, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28325824/persistence-of-myopathy-in-cushing-s-syndrome-evaluation-of-the-german-cushing-s-registry
#4
Christina Maria Berr, Mareike R Stieg, Timo Deutschbein, Marcus Quinkler, Ralf Schmidmaier, Andrea Osswald, Nicole Reisch, Katrin Ritzel, Christina Dimopoulou, Julia Fazel, Stefanie Hahner, Gunter K Stalla, Felix Beuschlein, Martin Reincke
BACKGROUND: Cushing's syndrome (CS) is characterized by an excessive secretion of glucocorticoids that results in a characteristic clinical phenotype. One feature of clinical hypercortisolism is breakdown of protein metabolism translating into clinical consequences including glucocorticoid induced myopathy. While surgery is effective in control of cortisol excess, the effect of biochemical remission on muscular function is yet unclear. METHODS: In a cross-sectional study we analyzed 47 patients with CS during the florid phase (ActiveCS)...
March 21, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28314809/goodpasture-s-disease-with-late-presentation-of-renal-abnormality-and-anti-gbm-autoantibody
#5
Emily Ann Boardman, Sameira Sohail, Rajesh Yadavilli
Goodpasture's disease without circulating autoantibodies is a rare presentation of a rare diagnosis. We present the case of a man aged 17 years who had 3 hospital admissions over a 2-month period with haemoptysis and shortness of breath. Throughout his first 2 admissions, his renal function was normal and anti-glomerular basement membrane (GBM) antibodies were negative. CT pulmonary angiogram during his second admission revealed florid and diffuse alveolar infiltrates. However, high-resolution CT chest performed 4 weeks later showed complete resolution of these changes...
March 17, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28291070/florid-neovascularization-of-the-retina-in-a-diabetic-patient-undergoing-induction-and-consolidation-therapy-for-acute-promyelocytic-leukemia
#6
John R Rocke, J Ben Clark, Philip J Campbell, Emil Kurniawan
PURPOSE: To report on a 39-year-old gentleman with a background of Type 2 diabetes mellitus who was diagnosed with acute promyelocytic leukemia (APL), which was treated by all-trans retinoic acid (ATRA), and subsequently developed bilateral neovascularization of the disk (NVD). METHODS: Ophthalmic examination and investigation including fundus photography and fluorescein angiography. RESULTS: Three months after commencement of ATRA therapy, the patient was found to have florid bilateral NVD with adjacent preretinal and intraretinal hemorrhages...
March 13, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28274069/florid-osseous-dysplasia-report-of-two-cases-and-review-of-literature
#7
Gayathri Mahalingam, G V Murali Gopika Manoharan
Florid osseous dysplasia is a rare benign fibro-osseous multiquadrant dysplastic lesion confined to the alveolar process of jaws, generally asymptomatic and usually detected incidentally during radiologic examination and requires no treatment unless symptomatic or cosmetically concerning. In this article, we present two rare cases of florid osseous dysplasia in Indian women with their clinical, radiographic and histologic findings and a brief review of literature. The first case was asymptomatic and the lesion was detected during routine radiographic examination and required no treatment whereas, the second case presented with features of osteomyelitis...
January 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28262407/anti-n-methyl-d-aspartate-receptor-encephalitis-associated-with-hepatic-neuroendocrine-carcinoma-a-case-report
#8
Ee Wei Lim, Chun Wai Yip
Anti-N-methyl-D-aspartate receptor (Anti-NMDAR) encephalitis can present with and without tumor. Tumor associations are less common in older patients. We report a 65-year-old gentleman who presented with one week history of cough, chills, rigor and altered behavior, followed by florid visual and auditory hallucinations. Mini mental status examination score was 16/30. Both cerebrospinal fluid and plasma anti-NMDA receptor antibodies were detected. A course of intravenous methylprednisolone was given with partial symptom improvement...
March 2, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28235627/florid-splenic-gamma-delta-t-cell-proliferation-in-patients-with-splenomegaly-and-cytopenias-a-high-stakes-diagnostic-challenge
#9
Shanxiang Zhang, Michael G Bayerl
OBJECTIVES: Splenic gamma/delta T-cell proliferation is rare and correct diagnosis is critical for adequate clinical management. METHODS: Two splenectomy cases from patients with splenomegaly and cytopenias were studied by morphological evaluation, extensive immunophenotyping, FISH and molecular studies. The clinicopathologic findings were compared with splenic T gamma/delta neoplasia, notably hepatosplenic T-cell lymphoma (HSTL) and T-cell large granular lymphocytic leukemia (TLGL) of the variety T gamma/delta...
February 21, 2017: Human Pathology
https://www.readbyqxmd.com/read/28222836/presumptive-spontaneous-lysosomal-storage-like-disease-in-a-crl-cd1-icr-mouse
#10
Krista M Hernon, Tiffany L Whitcomb, Lori Davis, Timothy K Cooper
A clinically unremarkable 4.5-mo-old female Crl:CD1(ICR) VAF/Elite mouse was euthanized for scheduled sentinel processing. Gross necropsy findings included significant hepatosplenomegaly and visceral lymphadenomegaly, resulting in a preliminary gross diagnosis of lymphoma. Histology revealed florid accumulations of large, 'foamy' macrophages present in the bone marrow, small intestines, and viscera including liver, spleen, lymph nodes, thymus, uterus, and ovaries. The cytoplasm of these cells was abundant, stained pale blue with Wright-Giemsa and was periodic acid-Schiff positive...
February 1, 2017: Comparative Medicine
https://www.readbyqxmd.com/read/28222414/urinary-steroid-metabolites-in-a-case-of-florid-ectopic-cushing-s-syndrome-and-clinical-correlations
#11
Angelos Kyriacou, Karolina M Stepien, Basil Issa
A 51-year old woman was admitted with multiple cerebral, pulmonary and intra-abdominal abscesses. The combination of apparent immunosuppression, obesity, diabetes mellitus, hypertension, hypokalaemia, osteoporotic fractures and bilateral shoulder avascular necrosis led to a clinical diagnosis of Cushing's syndrome (CS). This was biochemically confirmed as follows: midnight serum cortisol 4275 nmol/L (60-250), non-suppressed overnight dexamethasone suppression test, raised salivary cortisol 716 nmol/L (5-46) and ACTH 639 ng/L (0-46)...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28194495/florid-cemento-osseous-dysplasia-review-of-an-uncommon-fibro-osseous-lesion-of-the-jaw-with-important-clinical-implications
#12
REVIEW
Sarah Fenerty, Wei Shaw, Rahul Verma, Ali B Syed, Riya Kuklani, Jie Yang, Sayed Ali
Florid cemento-osseous dysplasia (FCOD) is a rare, benign, multifocal fibro-osseous dysplastic process affecting tooth-bearing areas of the jaw, characterized by replacement of normal trabecular bone with osseous tissue and dense acellular cementum in a fibrous stroma. It is one clinicopathologic variant in a spectrum of related non-neoplastic fibro-osseous lesions known as cemento-osseous dysplasias (CODs), thought to arise from elements of the periodontal ligament. Diagnosis primarily relies upon radiographic and clinical findings; unnecessary biopsy should be avoided, as inoculation with oral pathogens may precipitate chronic infection in these hypovascular lesions...
February 13, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28176803/three-novel-ano5-missense-mutations-in-caucasian-and-chinese-families-and-sporadic-cases-with-gnathodiaphyseal-dysplasia
#13
Lingling Jin, Yi Liu, Fanyue Sun, Michael T Collins, Keith Blackwell, Albert S Woo, Ernst J Reichenberger, Ying Hu
Gnathodiaphyseal dysplasia (GDD; MIM#166260) is an autosomal dominant syndrome with characteristic cemento-osseous lesions of jawbones, bone fragility, and diaphyseal sclerosis of tubular bones. To date, only five mutations in the proposed calcium-activated chloride channel ANO5/TMEM16E gene have been identified. In this study, we describe two families and two singular patients with three new mutations. One Caucasian family with seven affected members exhibited frequent bone fractures and florid osseous dysplasia (p...
February 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28147469/thymoma-and-synchronous-primary-mediastinal-seminomas-with-florid-follicular-lymphoid-hyperplasia-in-the-anterior-mediastinum-a-case-report-and-review-of-the-literature
#14
Hyang-Im Lee, In-Seok Jang, Kyung Nyeo Jeon, Gyung Hyuck Ko, Jong Sil Lee, Dong Chul Kim, Dae Hyun Song, Jeong-Hee Lee
Thymoma is the most common neoplasm of the anterior mediastinum and has malignant potential. Germ cell tumors (GCTs) found in the anterior mediastinum are usually benign, and malignant GCTs, such as seminomas, are rare. Histologically, mediastinal seminoma is indistinguishable from testicular seminoma except for site-associated morphological features such as lymphoid follicular hyperplasia. Therefore, excluding metastasis is very important. Recently, we treated a young adult patient with multiple thymic masses that occurred simultaneously...
March 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/28116272/management-of-large-bone-defects-in-diaphyseal-fractures-by-induced-membrane-formation-by-masquelet-s-technique
#15
R Sivakumar, M Gulam Mohideen, M Chidambaram, T Vinoth, Prahalad Kumar Singhi, V Somashekar
INTRODUCTION: Management of the large gap in long bone fractures is a challenging problem after compound injuries. A novel technique called as Masquelet's technique of "induced membrane formation", is used to bridge a gap of more than 5 cm using bone cement as a spacer in first stage and autologous cancellous bone graft to fill the gap in second stage. CASE PRESENTATION: We present two different and difficult cases with bone defects after open injuries associated with long bone fractures in this paper...
July 2016: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28098407/tumefactive-foreign-body-giant-cell-reaction-following-high-pressure-paint-injection-injury-a-case-report-and-review-of-literature
#16
Shakuntala H Mauzo, Michael G Swaby, Michael H Covinsky
High-pressure paint injection injury is an uncommon but well-described injury. The histologic features of long-term paint injection injury with retained material are less recognized. A 46-year-old male presented clinically as "recurrent giant cell tumor of tendon sheath." The right index finger demonstrated fusiform enlargement by a pigmented mass with diffuse infiltration into the soft tissue of the hand. Histologically the tumor showed multiple giant cells in a fibrotic stroma extending into the dermis. There were multiple types of foreign material including diffuse brown black pigment, weakly optically polarizing foreign material and white inclusions with a "train track" appearance...
January 18, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28092898/florid-erythrophagocytosis-by-neutrophils-in-peripheral-blood
#17
Weijie Li, Naresh Reddivalla
No abstract text is available yet for this article.
August 4, 2016: Blood
https://www.readbyqxmd.com/read/28087963/vitamin-d-deficiency-rickets-even-with-abundant-sunlight-a-case-to-highlight-emerging-problem
#18
T H Ting, A S Devnani
We describe a case of vitamin-D-deficiency rickets in a young child to highlight its existence in Malaysia where sunlight is abundant throughout the year. The child presented with deformity of both legs. He came from an educated urban family but remained indoors most of the time. Radiographs of knees and wrists showed changes of florid rickets. Low serum 25-hydoxyvitamin-D, high parathyroid hormone, normal serum phosphate and calcium levels, and normal renal function clinched the diagnosis of vitamin-D-deficiency rickets...
December 2016: Medical Journal of Malaysia
https://www.readbyqxmd.com/read/28087919/presumptive-spontaneous-lysosomal-storage-like-disease-in-a-crl-cd1-icr-mouse
#19
Krista M
A clinically unremarkable 4.5-mo-old female Crl:CD1(ICR) VAF/Elite mouse was euthanized for scheduled sentinel processing.Gross necropsy findings included significant hepatosplenomegaly and visceral lymphadenomegaly, resulting in a preliminarygross diagnosis of lymphoma. Histology revealed florid accumulations of large, 'foamy' macrophages present in the bone marrow, small intestines, and viscera including liver, spleen, lymph nodes, thymus, uterus, and ovaries. The cytoplasm of these cells was abundant, stained pale blue with Wright-Giemsa and was periodic acid-Schiff positive...
January 13, 2017: Comparative Medicine
https://www.readbyqxmd.com/read/28071741/loss-of-coupling-distinguishes-gjb1-mutations-associated-with-cns-manifestations-of-cmt1x-from-those-without-cns-manifestations
#20
Charles K Abrams, Mikhail Goman, Sarah Wong, Steven S Scherer, Kleopas A Kleopa, Alejandro Peinado, Mona M Freidin
CMT1X, an X-linked inherited neuropathy, is caused by mutations in GJB1, which codes for Cx32, a gap junction protein expressed by Schwann cells and oligodendrocytes. Many GJB1 mutations cause central nervous system (CNS) abnormality in males, including stable subclinical signs and, less often, short-duration episodes characterized by motor difficulties and altered consciousness. However, some mutations have no apparent CNS effects. What distinguishes mutations with and without CNS manifestations has been unclear...
January 10, 2017: Scientific Reports
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