When It's Not A Sunburn But A Sun Allergy

As it gets warmer and people start spending more time outside, I have more and more patients coming into my office and complaining of a "sun allergy." A sun allergy is really a layman's term, which refers to a number of conditions when a rash occurs on skin that has been exposed to the sun. These are also referred to as photosensitive disorders or photodermatoses, and can be broadly categorized into the following medical terms: idiopathic photodermatoses, exogenous photodermatoses, photoexacerbated dermatoses, genetic photodermatoses, and metabolic photodermatoses. Sounds complicated, right?  A sun allergy refers to a number of conditions when a rash occurs on skin that has been exposed to the sun. Let's break it down: If, after spending a few hours in...

from ! Medicine by Alexandros G. Sfakianakis via alwin on Inoreader http://ift.tt/2s0XeAd
via IFTTT

Repetitive DNA sequences in health and disease: gift wrappings for precision medicine

NIH Director ' s Wednesday Afternoon Lecture Series Dr. Ramos is recognized as a leading expert in the study of gene-gene and gene-environment interactions and genomic medicine. His research program integrates diverse approaches, ranging from molecular genetics to population-based public health studies in efforts to understand the genetic and genomic basis of human disease and to advance the goals of precision medicine. Ongoing basic science studies in his laboratory focus on repetitive genetic elements in the mammalian genome and their role in genome plasticity and disease, while his clinical work focuses on the characterization of diagnostic and prognostic biomarkers for chronic disease and cancer. For more information go tohttps://oir.nih.gov/walsAir date: 6/14/2017 3:00:00 PM (Source...

MedWorm Message: Have you tried our new medical search engine? More powerful than before. Log on with your social media account. 100% free.

from ! Medicine by Alexandros G. Sfakianakis via alwin on Inoreader http://ift.tt/2s8zzyG
via IFTTT

Thromboembolism prophylaxis in laparoscopic surgery for gynecologic benign diseases. Results of a single center experience in 922 procedures.

CONCLUSIONS: Laparoscopic surgery in women for gynecologic benign diseases is associated with a very low risk of thromboembolism and therefore it does not require any mechanical or pharmacological thromboprophylaxis in the absence of risk factors. The systematic evaluation of VTE risk with the help of a standard calculator is highly recommended. KEY WORDS: Gynaecology, Laparoscopic surgery, Thromboprophylaxis. PMID: 28590256 [PubMed - as supplied by publisher] (Source: Annali Italiani di Chirurgia)

MedWorm Message: Have you tried our new medical search engine? More powerful than before. Log on with your social media account. 100% free.

from ! Medicine by Alexandros G. Sfakianakis via alwin on Inoreader http://ift.tt/2s8KhFd
via IFTTT

The Prevalence of Lichen Sclerosus in Patients With Vulvar Squamous Cell Carcinoma

Women with vulvar lichen sclerosus (LS) have an increased risk of developing differentiated vulvar intraepithelial neoplasia and vulvar squamous cell carcinoma (SCC). Our primary aim was to determine the prevalence of LS among women with vulvar SCC. All patients who underwent excision for invasive SCC of the vulva from January 1, 2009 to December 31, 2013 were identified by searching our institution's electronic laboratory information system (n=111). The vulvar excision specimens from these patients were reviewed for the presence of adjacent LS. The grade of the SCC and clinical data were also documented for each case. The proportion of vulvar SCCs with adjacent LS identified on the excision specimen was 0.29 (95% confidence interval, 0.21–0.38). The proportion of patients in our study...

MedWorm Message: Have you tried our new medical search engine? More powerful than before. Log on with your social media account. 100% free.

from ! Medicine by Alexandros G. Sfakianakis via alwin on Inoreader http://ift.tt/2sIezMm
via IFTTT

Tissue-based Immunohistochemical Biomarker Accuracy in the Diagnosis of Malignant Glandular Lesions of the Uterine Cervix: A Systematic Review of the Literature and Meta-Analysis

Immunohistochemistry is widely used to support a pathology diagnosis of cervical adenocarcinoma despite the absence of a systematic review and meta-analysis of the published data. This systematic review and meta-analysis was performed to investigate the sensitivity and specificity of immunohistochemistry biomarkers in the tissue-based diagnosis of cervical adenocarcinoma histotypes compared with normal endocervix and benign glandular lesions. The systematic review and meta-analysis used a PICOT framework and QUADAS-2 to evaluate the quality of included studies. The literature search spanned 40 years and ended June 30, 2015. Abstracts of identified records were independently screened by 2 of the authors who then conducted a full-text review of selected articles. Sensitivity and specificity ...

from ! Medicine by Alexandros G. Sfakianakis via alwin on Inoreader http://ift.tt/2sI01MJ
via IFTTT

Clear Cell Carcinoma of the Cervix With Choriocarcinomatous Differentiation: Report of an Extremely Rare Phenomenon Associated With Mismatch Repair Protein Abnormality

We report a cervical clear cell carcinoma admixed with a component of choriocarcinoma in a 52-year-old woman, only the second report of this combination in the literature. Immunohistochemically, the tumor exhibited isolated loss of staining with the mismatch repair protein MSH6. We review the literature on trophoblastic differentiation in cervical carcinoma. (Source: International Journal of Gynecological Pathology)

from ! Medicine by Alexandros G. Sfakianakis via alwin on Inoreader http://ift.tt/2sIpG87
via IFTTT

Value of Pathology Review in a Population-based Series of Ovarian Tumors

Ovarian neoplasia comprises a heterogenous group of tumors with distinct clinicopathologic and molecular features and therefore assessment of potential risk factors should be tumor subtype specific. As part of ongoing epidemiological investigations of ovarian neoplasia in Western Australia, we performed an initial review of original pathology reports followed, in selected cases, by reassessment of histology material to optimize accurate diagnosis. Additional immunohistochemistry, often using antibodies unavailable at the time of initial assessment, was also performed as required. From an initial cohort of 1660 cases identified through the Western Australia Cancer Registry, benign, nonepithelial, nonovarian, miscellaneous, and indeterminate cases were excluded. Also excluded were 33 cases t...

from ! Medicine by Alexandros G. Sfakianakis via alwin on Inoreader http://ift.tt/2s8OIjE
via IFTTT

Comparison of neurons derived from mouse P19, rat PC12 and human SH-SY5Y cells in the assessment of chemical- and toxin-induced neurotoxicity.

CONCLUSIONS: P19 neurons are more sensitive to detect cytotoxicity of MeHg, okadaic acid and acrylamide than retinoic acid-differentiated SH-SY5Y cells and nerve growth factor-treated PC12 cells. P19 neurons are at least as sensitive as differentiated SH-SY5Y cells to detect the loss of mitochondrial membrane potential produced by MeHg and the protective effects of extracellular GSH on MeHg toxicity. P19 neurons may be a useful model to study neurotoxic effects of chemicals. PMID: 28583171 [PubMed - in process] (Source: BMC Pharmacology and Toxicology)

from ! Medicine by Alexandros G. Sfakianakis via alwin on Inoreader http://ift.tt/2sHSWf9
via IFTTT

Primary Ovarian Malignant PEComa: A Case Report

We report a case of malignant primary PEComa of the ovary, and discuss the differential diagnosis. This represents the first case of primary typical malignant PEComa of the ovary. (Source: International Journal of Gynecological Pathology)

from ! Medicine by Alexandros G. Sfakianakis via alwin on Inoreader http://ift.tt/2s8OOb0
via IFTTT

Interobserver Reproducibility Among Gynecologic Pathologists in Diagnosing Heterologous Osteosarcomatous Component in Gynecologic Tract Carcinosarcomas

This study examines interobserver reproducibility among gynecologic pathologists in the diagnosis of osteosarcomatous components, and its correlation with expression of the novel antibody SATB2 (marker of osteoblastic differentiation) in these osteosarcomatous foci. Digital H&E images from 20 gynecologic tract carcinosarcomas were reviewed by 22 gynecologic pathologists with a request to determine the presence or absence of an osteosarcomatous component. The 20 preselected cases included areas of classic heterologous osteosarcoma (malignant cells producing osteoid; n=10) and osteosarcoma mimics (malignant cells with admixed nonosteoid matrix; n=10). Interobserver agreement was evaluated and SATB2 scored on all 20 cases and compared with the original diagnoses. Moderate agreement (Fleiss'...

from ! Medicine by Alexandros G. Sfakianakis via alwin on Inoreader http://ift.tt/2s8CWWy
via IFTTT

L1CAM and HER2 Expression in Early Endometrioid Uterine Cancer

Recently L1CAM was shown to be a promising biomarker for early-stage endometrial carcinoma (EC). As L1CAM expression was found to be related to serous ECs and areas of serous differentiation in endometrioid carcinomas, there is evidence that L1CAM-positive cancers more likely resemble type II carcinomas. Furthermore, expression of growth factor receptor HER2 has been found to be closely associated with serous ECs. We conducted a retrospective study on 142 patients in FIGO stages I and II with endometrioid EC and analyzed L1CAM and HER2 expression by double-staining immunohistochemistry. The association between these 2 transmembrane molecules and their impact on patient outcome was analyzed. Both L1CAM and HER2 showed a significant association with recurrent disease (P (Source: Internationa...

MedWorm Message: Have you tried our new medical search engine? More powerful than before. Log on with your social media account. 100% free.

from ! Medicine by Alexandros G. Sfakianakis via alwin on Inoreader http://ift.tt/2sIbxaJ
via IFTTT

Primary Mucinous Carcinoma of the Fallopian Tube: Case Report and Review of Literature

We report the detailed characterization of a mucinous carcinoma arising in the fimbrial end of the fallopian tube in a 74-yr-old woman. The patient presented with recurrent urinary tract infection and urinary tract obstruction secondary to a large right ovarian mass. She had an appendicectomy as an 11 yr old. Serum CA-125 was raised at 239 U/mL. Computed tomographic scans showed bilateral, cystic ovarian tumors but no other intra-abdominal abnormality. The patient underwent total abdominal hysterectomy, bilateral salpingo-oophorectomy, and omental biopsy. Microscopy showed mucinous carcinoma arising from the left tubal fimbriae, in association with mucinous metaplasia over the uninvolved fimbrial folds. There was no mucinous metaplasia in the contralateral fallopian tube, endometrial linin...

from ! Medicine by Alexandros G. Sfakianakis via alwin on Inoreader http://ift.tt/2s8DxqY
via IFTTT

A Selective Biomarker Panel Increases the Reproducibility and the Accuracy in Endometrial Biopsy Diagnosis

In this study, 70 biopsies with endometrial carcinoma were supplemented with a biomarker panel consisting of ER, PR, P53, and DNA ploidy. A representative H&E slide was scanned digitally and made available to 12 gynecologic pathologists in 4 Nordic countries: Finland, Denmark, Sweden, and Norway. Reviewers diagnosed the cases both before and after being provided with the biomarker results. The interobserver percent agreement and Cohen κ improved from 75.8% (κ=0.52, moderate) to 84% (κ=0.68, substantial) with inclusion of the biomarker panel. Agreement with the subsequent hysterectomy diagnosis also improved from 83.6% (κ=0.67) to 88.7% (κ=0.77). There was no statistical improvement between a reflex (84% agreement) and a reflective testing algorithm (82.9% agreement), suggesting that t...

from ! Medicine by Alexandros G. Sfakianakis via alwin on Inoreader http://ift.tt/2sIdUdI
via IFTTT

Endometrial Thickness as Measured by Transvaginal Ultrasound and the Corresponding Histopathologic Diagnosis in Women With Postmenopausal Bleeding

Endometrial thickness as measured by transvaginal ultrasound (TVUS) is being increasingly used as a first-line method to evaluate patients with vaginal bleeding. Our study aims to examine correlation between the histopathologic diagnosis and the results of TVUS and find a threshold that could reliably exclude carcinoma. We included women, age 55 years and above, who presented with postmenopausal bleeding and had a TVUS within 30 days of their endometrial biopsy. Total of 304 patients met our criteria and were divided into 4 groups. Patients in group A (n=198) had benign/atrophic endometrium, group B (n=44) had polyps, group C (n=30) had hyperplasia, and group D (n=32) had carcinoma. The endometrial thickness obtained by TVUS was compared with the histopathologic finding of the endometrial ...

from ! Medicine by Alexandros G. Sfakianakis via alwin on Inoreader http://ift.tt/2s8z4oe
via IFTTT

The mystery xenon in Earth’s atmosphere came from icy comets

The moon is younger than we thought according to data form the Rosetta spacecraft that shows 22 per cent of our atmospheric xenon came from comets

from # All Medicine by Alexandros G. Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/2ratn4h
via IFTTT

Flow cytometric measurement of STAT1 and STAT3 phosphorylation in CD4+ and CD8+ T cells - Clinical applications in PID diagnostics

Publication date: Available online 7 June 2017
Source:Journal of Allergy and Clinical Immunology
Author(s): Michael Bitar, Andreas Boldt, Stefanie Binder, Michael Borte, Karim Kentouche, Stephan Borte, Ulrich Sack

Teaser

Flow cytometry-based pSTAT1 and pSTAT3 profiling is an effective diagnostic tool to identify PID patients with aberrations in the STAT1 or STAT3 gene.


from ! Medicine by Alexandros G. Sfakianakis via a.lsfakia on Inoreader http://ift.tt/2sZ1VaW
via IFTTT

Nitric oxide induces human CLA+CD25+Foxp3+ regulatory T cells with skin homing potential

Publication date: Available online 7 June 2017
Source:Journal of Allergy and Clinical Immunology
Author(s): Cunjing Yu, Amanda Fitzpatrick, Duanduan Cong, Chengcan Yao, Jinah Yoo, Andrew Turnbull, Jürgen Schwarze, Mary Norval, Sarah E.M. Howie, Richard B. Weller, Anne L. Astier
Phototherapy releases nitric oxide and can reduce symptoms in Atopic Dermatitis (AD). Nitric oxide induced suppressive regulatory T cells and, post-phototherapy, a clinical improvement in AD correlated with an increased ratio of Tregulatory:Teffector cells.



from ! Medicine by Alexandros G. Sfakianakis via a.lsfakia on Inoreader http://ift.tt/2s1fn0V
via IFTTT

Study Adds Evidence That Flaws in a Tumor's Genetic Mending Kit Drive Treatment Response to Immunotherapy Drugs

In an expanded, three-year clinical trial of 86 patients with colorectal and 11 other kinds of cancer that have so-called 'mismatch repair' genetic defects, scientists at Johns Hopkins Medicine and its Bloomberg~Kimmel Institute for Cancer Immunotherapy have found that half of the patients respond to an immunotherapy drug called pembrolizumab (Keytruda). In a report on the findings, which led the U.S. Food and Drug Administration to approve expanded use of pembrolizumab for patients, the researchers also say they found evidence that the immune responses closely aligned with mutations found in their cancers. The report is published online in the June 8 issue of the journal Science.

from ! Medicine by Alexandros G. Sfakianakis via a.lsfakia on Inoreader http://ift.tt/2sHQMMn
via IFTTT

Hematopoietic stem cell transplantation in patients with Gain of Function STAT1 Mutation

Publication date: Available online 7 June 2017
Source:Journal of Allergy and Clinical Immunology
Author(s): Jennifer W. Leiding, Satoshi Okada, David Hagin, Mario Abinun, Anna Shcherbina, Dmitry N. Balashov, Vy H.D. Kim, Adi Ovadia, Stephen L. Guthery, Michael Pulsipher, Desa Lilic, Lisa A. Devlin, Sharon Christie, Mark Depner, Sebastian Fuchs, Annet van Royen-Kerkhof, Caroline Lindemans, Aleksandra Petrovic, Kathleen E. Sullivan, Nancy Bunin, Sara Sebnem Kilic, Fikret Arpaci, Oscar de la Calle-Martin, Laura Martinez-Martinez, Juan Carlos Aldave, Masao Kobayashi, Teppei Ohkawa, Kohsuke Imai, Akihiro Iguchi, Chaim M. Roifman, Andrew R. Gennery, Mary Slatter, Hans D. Ochs, Tomohiro Morio, Troy R. Torgerson
BackgroundGain of function mutations in signal transducer and activator of transcription 1 (GOF-STAT1) cause a susceptibility to a range of infections, autoimmunity, immune dysregulation, and combined immunodeficiency. Disease manifestations can be mild or severe and life threatening. Hematopoietic stem cell transplantation (HSCT) has been utilized in some patients with more severe symptoms to treat and cure the disorder. The outcome of HSCT for this disorder is, however, not well established.ObjectiveTo aggregate the worldwide experience of HSCT in GOF-STAT1 patients and to assess outcomes including donor engraftment, overall survival, graft versus host disease, and transplant related complications.MethodsData were collected from an international cohort of 15 GOF-STAT1 patients that had undergone HSCT using a variety of conditioning regimens and donor sources. Retrospective data collection allowed the outcome of transplantation to be assessed. In vitro functional testing was performed to confirm that each of the identified STAT1 variants was, in-fact, a gain of function mutation.ResultsPrimary donor engraftment in this cohort of 15 GOF-STAT1 patients was 74% and overall survival was only 40%. Secondary graft failure was common (50%) and post-transplant event free survival was poor (10% by 100 days). A subset of patients developed hemophagocytic lymphohistiocytosis (HLH) prior to their transplant, contributing to their poor outcomes.ConclusionOur data indicate that HSCT for patients with GOF-STAT1 mutations is curative but has significant risk of secondary graft failure and death.

Teaser

Hematopoietic stem cell transplantation (HSCT) in GOF-STAT1 patients can be curative. HSCT in this cohort is however associated with a relatively high rate of graft failure and other complications that lead to decreased overall survival.


from ! Medicine by Alexandros G. Sfakianakis via a.lsfakia on Inoreader http://ift.tt/2sYGA1u
via IFTTT

Exaggerated T Follicular Helper Cell Responses in LRBA Deficiency Due to Failure of CTLA4-Mediated Regulation

Publication date: Available online 7 June 2017
Source:Journal of Allergy and Clinical Immunology
Author(s): Fayhan J. Alroqi, Louis-Marie Charbonnier, Safa Baris, Ayca Kiykim, Janet Chou, Craig D. Platt, Abdulrahman Algassim, Sevgi Keles, Bandar K. Al Saud, Fowzan S. Alkuraya, Michael Jordan, Raif S. Geha, Talal A. Chatila
PurposeLRBA (lipopolysaccharide-responsive beige like anchor protein) and CTLA4 (cytotoxic T lymphocyte antigen 4) deficiencies give rise to overlapping phenotypes of immune dysregulation and autoimmunity, with dramatically increased frequencies of circulating T Follicular helper (cTFH) cells. We sought to determine the mechanisms of cTFH cell dysregulation in LRBA deficiency and the utility of monitoring cTFH cells as a correlate of clinical response to CTLA4-Ig therapy.MethodscTFH cells and other lymphocyte subpopulations were characterized. Functional analyses included in vitro TFH cell differentiation and cTFH/naïve B cell co-cultures. Serum soluble IL-2 receptor alpha chain (sIL-2Rα), and in vitro immunoglobulin production by cultured B cells were quantified by ELISA.ResultscTFH cell frequencies in patients with LRBA or CTLA4 deficiency sharply declined with CTLA4-Ig therapy, in parallel with other markers of immune dysregulation including sIL-2Rα, CD45RO⁺CD4⁺ effector T cells and auto-antibodies, and predictive of favorable clinical responses. cTFH cells in patients with LRBA deficiency were biased towards a TH1-like cell phenotype, which was partially reversed by CTLA4-Ig therapy. LRBA-sufficient but not -deficient regulatory T (Treg) cells suppressed in vitro TFH cell differentiation in a CTLA4-dependent manner. LRBA deficient TFH cells supported in vitro antibody production by naïve LRBA-sufficient B cells.ConclusionscTFH cell dysregulation in LRBA deficiency reflects impaired control of TFH differentiation due to profoundly decreased CTLA4 expression on Treg cells, and probably contributes to autoimmunity in this disease. Serial monitoring of cTFH cell frequencies is highly useful in gauging the clinical response of LRBA deficient patients to CTLA4-Ig therapy.

Teaser

LRBA and CTLA4 deficiencies are associated with dysregulated TFH cell responses, which may contribute to autoimmunity in these disorders. Monitoring circulating TFH cells may help gauge response to therapy.


from ! Medicine by Alexandros G. Sfakianakis via a.lsfakia on Inoreader http://ift.tt/2s0LPAq
via IFTTT