1,314 results match your criteria Kindler Syndrome
J Oral Rehabil 2018 Nov 25. Epub 2018 Nov 25.
Department of Psychiatry and Psychotherapy, University Medicine Greifswald, Germany.
Background: Associations of alexithymia with temporomandibular pain disorders (TMD), facial pain, head pain and migraine have been described, but the role of the different dimensions of alexithymia in pain development remained incompletely understood.
Objectives: We sought to investigate the associations of alexithymia and its subfactors with signs of TMD and with facial pain, head pain, and migraine in the general population.
Methods: 1,494 subjects from the general population completed the Toronto Alexithymia Scale-20 (TAS-20) and underwent a clinical functional examination with palpation of the temporomandibular joint and masticatory muscles. Read More
Int J Dermatol 2019 Jan 9;58(1):e19-e21. Epub 2018 Nov 9.
Department of Dermatology, Tokyo Medical University, Tokyo, Japan.
J Wound Care 2018 Nov;27(11):768-771
Associate Professor, Haydarpasa Numune Training and Research Hospital, Department of Pediatric Clinic, Istanbul, Turkey.
Bart syndrome consists of aplasia cutis congenita (ACC) and dominant or recessive dystrophic epidermolysis bullosa (DEB), associated with skin fragility and nail dysplasia. ACC in DEB is thought to be caused by trauma, the most cited cause being in utero formation of bullae consequent to friction of the limbs. Epidermolysis bullosa (EB) refers to a hereditary mechanobullous disease following trauma, characterised by formation of blisters on the skin and mucous membranes. Read More
Sci Rep 2018 Nov 5;8(1):16332. Epub 2018 Nov 5.
Duke Cancer Institute, Duke University Medical Center, Durham, North Carolina, USA.
Angiogenesis is essential in tumor biology and is regulated by vascular endothelial growth factor (VEGF) ligands and receptors. Here we aimed to discover genetic variants associated with levels of circulating angiogenic proteins in cancer patients. Plasma was collected at baseline in 216 pancreatic and 114 colorectal cancer patients. Read More
Eur Arch Psychiatry Clin Neurosci 2018 Oct 25. Epub 2018 Oct 25.
University Hospital of Child and Adolescent Psychiatry and Psychotherapy, University of Bern, Bern, Switzerland.
Reports of limited clinical significance of attenuated psychotic symptoms before age 15/16 indicate an important role of neurodevelopment in the early detection of psychoses. Therefore, we examined if age also exerts an influence on the prevalence and clinical significance of the 14 cognitive and perceptive basic symptoms (BS) used in psychosis-risk criteria and conceptualized as the most direct self-experienced expression of neurobiological aberrations. A random representative general population sample of the Swiss canton Bern (N = 689, age 8-40 years, 06/2011-05/2014) was interviewed for BS, psychosocial functioning, and current mental disorder. Read More
Cancer Discov 2018 Dec 15;8(12):1548-1565. Epub 2018 Oct 15.
Department of Pathology and Human Oncology & Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York.
: Malignant pleural mesothelioma (MPM) is a highly lethal cancer of the lining of the chest cavity. To expand our understanding of MPM, we conducted a comprehensive integrated genomic study, including the most detailed analysis of alterations to date. We identified histology-independent molecular prognostic subsets, and defined a novel genomic subtype with and mutations and extensive loss of heterozygosity. Read More
J Clin Endocrinol Metab 2018 Oct 11. Epub 2018 Oct 11.
Department of Nutrition Science, Purdue University, West Lafayette, IN.
Context: Insulin resistance is an adverse health outcome that accompanies obesity. Fat mass is negatively associated with bone mass while adjusting for confounders, and insulin resistance might be an intermediary in this relationship.
Objective: Determine whether insulin resistance is an intermediary in the relationship between adiposity and bone mass in adolescents. Read More
Injury 2018 Dec 29;49(12):2132-2141. Epub 2018 Sep 29.
Department of Cardiothoracic and Vascular Surgery, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
Background: Resuscitative endovascular balloon occlusion of the aorta (REBOA) is an effective adjunct in exsanguinating torso hemorrhage, but causes ischemic injury to distal organs. The aim was to investigate whether blood pressure targeting by partial REBOA (pREBOA) is possible in porcine severe hemorrhagic shock and to compare pREBOA and total REBOA (tREBOA) regarding hemodynamic, metabolic and inflammatory effects.
Methods: Eighteen anesthetized pigs were exposed to induced controlled hemorrhage to a systolic blood pressure (SBP) of 50 mmHg and randomized into three groups of thoracic REBOA: 30 min of pREBOA (target SBP 80-100 mmHg), tREBOA, and control. Read More
J Thorac Oncol 2018 Nov 25;13(11):1655-1667. Epub 2018 Sep 25.
Clinical Investigations Branch, Cancer Therapy Evaluation Program, National Cancer Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:
On March 28- 29, 2017, the National Cancer Institute (NCI) Thoracic Malignacy Steering Committee, International Association for the Study of Lung Cancer, and Mesothelioma Applied Research Foundation convened the NCI-International Association for the Study of Lung Cancer- Mesothelioma Applied Research Foundation Mesothelioma Clinical Trials Planning Meeting in Bethesda, Maryland. The goal of the meeting was to bring together lead academicians, clinicians, scientists, and the U.S. Read More
J Clin Endocrinol Metab 2018 Sep 27. Epub 2018 Sep 27.
Division of Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Context: Dual-energy X-ray absorptiometry (DXA) is a cornerstone of pediatric bone health assessment, yet differences in height-for-age confound the interpretation of areal bone mineral density (aBMD) measures. To reduce the confounding of short stature on spine bone density, use of bone mineral apparent density (BMAD) and height-for-age Z-score (HAZ) adjusted aBMD (aBMDHAZ) are recommended. However, spine BMAD reference data are sparse, and the degree to which BMAD and aBMDHAZ account for height-related artifacts in bone density remains unclear. Read More
Hautarzt 2018 Oct;69(Suppl 1):16-18
Klinik und Poliklinik für Dermatologie und Allergologie der Ludwig-Maximilians-Universität München, Frauenlobstr. 9-11, 80337, München, Deutschland.
J Invest Dermatol 2018 Sep 21. Epub 2018 Sep 21.
St. Johns Institute of Dermatology, King's College London, Guy's Campus, London, UK; Nikon Imaging Centre, King's College London, Guy's Campus, London, UK. Electronic address:
Kindler syndrome is an autosomal recessive genodermatosis that results from mutations in the FERMT1 gene encoding t kindlin-1. Kindlin-1 localizes to focal adhesion and is known to contribute to the activation of integrin receptors. Most cases of Kindler syndrome show a reduction or complete absence of kindlin-1 in keratinocytes, resulting in defective integrin activation, cell adhesion, and migration. Read More
Blood 2018 Sep;132(11):1087-1088
University Medical Center of Mainz.
Pediatr Dermatol 2018 Nov 6;35(6):864-865. Epub 2018 Sep 6.
Hands and Upper Limb Service, Birmingham Women's and Children's Hospital, Birmingham, UK.
Kindler disease is a type of epidermolysis bullosa associated with acral blistering, diffuse cutaneous atrophy, poikiloderma, mucosal stenosis, and photosensitivity. This is the first case report in the literature to describe constriction bands associated with Kindler disease causing ischemia of the fingertips requiring urgent release and full-thickness skin grafts. Dermatologists reviewing such patients need to be aware of this condition and refer to a children's hand surgeon early to avoid leaving patients with prolonged periods of pain. Read More
Angew Chem Int Ed Engl 2018 Oct 5;57(40):13012-13014. Epub 2018 Sep 5.
Institute for Chemical Technology and Polymer Chemistry, Karlsruhe Institute of Technology (KIT), Engesser Strasse 18, 76131, Karlsruhe, Germany.
Follow the yellow brick road: Functional polymers can be prepared directly at room temperature from elemental sulfur by the Willgerodt-Kindler reaction. This method opens a new synthetic door for the synthesis and application of polythioamides and polythioureas. Read More
Mol Cancer Res 2018 Aug 31. Epub 2018 Aug 31.
Institute for Genomic & Systems Biology, The University of Chicago, Chicago, Illinois.
Patient-derived pancreatic ductal adenocarcinoma (PDAC) organoid systems show great promise for understanding the biological underpinnings of disease and advancing therapeutic precision medicine. Despite the increased use of organoids, the fidelity of molecular features, genetic heterogeneity, and drug response to the tumor of origin remain important unanswered questions limiting their utility. To address this gap in knowledge, primary tumor- and patient-derived xenograft (PDX)-derived organoids, and 2D cultures for in-depth genomic and histopathologic comparisons with the primary tumor were created. Read More
J Clin Periodontol 2018 Nov 22;45(11):1365-1374. Epub 2018 Oct 22.
Institute for Community Medicine, University Medicine Greifswald, Greifswald, Germany.
Aim: The aim of this study was to clarify the association between impacted or erupted third molars and periodontal pathology, assessed by probing depth (PD) and clinical attachment levels (CAL), in adjacent second molars.
Materials And Methods: Data from the population-based Study of Health in Pomerania (SHIP) was used. This is the first project with whole-body magnetic resonance imaging (WB-MRI) application in a general population setting with dental issues. Read More
J Oral Facial Pain Headache 2018 Aug 28. Epub 2018 Aug 28.
Aims: To estimate the association between signs of temporomandibular disorders (TMD) and symptoms of posttraumatic stress disorder (PTSD) in a representative sample from the general population of northeastern Germany.
Methods: Signs of TMD were assessed with a clinical functional analysis that included palpation of the temporomandibular joints (TMJs) and masticatory muscles. PTSD was assessed with the PTSD module of the Structured Clinical Interview for the Diagnostic and Statistical Manual of Mental Disorders, ed 4. Read More
Curr Opin Pediatr 2018 Dec;30(6):855-863
Research Unit Pediatric Hematology and Immunology.
Purpose Of Review: The risk of cancer is higher, and its outcome is worse in patients with primary immunodeficiency (PID) than in members of the general population. Thus, the inter-relationship of malignant diseases with PIDs requires more study.
Recent Findings: Large genetic screens identified a vast number of germline mutations in childhood cancer patient samples. Read More
J Clin Oncol 2018 Oct 16;36(28):2863-2871. Epub 2018 Aug 16.
Vasiliki Panou and Oluf D. Røe, Aalborg University Hospital, Aalborg, Denmark; Meghana Gadiraju, Arthur Wolin, Caroline M. Weipert, Emily Skarda, Aliya N. Husain, Jyoti D. Patel, Buerkley Rose, Shannon R. Zhang, Madison Weatherly, Viswateja Nelakuditi, Amy Knight Johnson, Maria Helgeson, David Fischer, Arpita Desai, Nanna Sulai, Lauren Ritterhouse, Kiran K. Turaga, Dezheng Huo, Jeremy Segal, Sabah Kadri, Zejuan Li, Hedy L. Kindler, and Jane E. Churpek, The University of Chicago, Chicago, IL; Oluf D. Røe, Levanger Hospital, Nord-Trøndelag Hospital Trust, Levanger; and Oluf D. Røe, Norwegian University of Science and Technology, Trondheim, Norway.
Purpose: The aim of the current study was to determine the prevalence and clinical predictors of germline cancer susceptibility mutations in patients with malignant mesothelioma (MM).
Methods: We performed targeted capture and next-generation sequencing of 85 cancer susceptibility genes on germline DNA from 198 patients with pleural, peritoneal, and tunica vaginalis MM.
Results: Twenty-four germline mutations were identified in 13 genes in 23 (12%) of 198 patients. Read More
PLoS One 2018 14;13(8):e0202272. Epub 2018 Aug 14.
Mayo Clinic, Rochester, MN, United States of America.
Purpose: Advanced pancreatic cancer is a highly refractory disease almost always associated with survival of little more than a year. New interventions based on novel targets are needed. We aim to identify new genetic determinants of overall survival (OS) in patients after treatment with gemcitabine using genome-wide screens of germline DNA. Read More
Mol Ecol 2018 Sep 3;27(17):3541-3554. Epub 2018 Aug 3.
SNSB-Zoologische Staatssammlung München, Munich, Germany.
Recent theoretical advances have hypothesized a central role of habitat persistence on population genetic structure and resulting biodiversity patterns of freshwater organisms. Here, we address the hypothesis that lotic species, or lineages adapted to comparably geologically stable running water habitats (streams and their marginal habitats), have high levels of endemicity and phylogeographic structure due to the persistent nature of their habitat. We use a nextRAD DNA sequencing approach to investigate the population structure and phylogeography of a putatively widespread New Guinean species of diving beetle, Philaccolilus ameliae (Dytiscidae). Read More
PLoS One 2018 19;13(7):e0199244. Epub 2018 Jul 19.
Yale Cancer Center, Yale School of Medicine, New Haven, Connecticut, United States of America.
Purpose: Observational studies have demonstrated increased colon cancer recurrence and mortality in states of excess energy balance, as denoted by factors including sedentary lifestyle, diabetes, increased dietary glycemic load, and increased intake of sugar-sweetened beverages. Nonetheless, the relation between artificially sweetened beverages, a popular alternative for sugar-sweetened beverages, and colon cancer recurrence and survival is unknown.
Methods: We analyzed data from 1,018 patients with stage III colon cancer who prospectively reported dietary intake during and after chemotherapy while enrolled in a National Cancer Institute-sponsored trial of adjuvant chemotherapy. Read More
Mol Ecol 2018 Jul 16. Epub 2018 Jul 16.
SNSB-Zoologische Staatssammlung München, Munich, Germany.
The habitat template concept applied to a freshwater system indicates that lotic species, or those which occupy permanent habitats along stream courses, are less dispersive than lentic species, or those that occur in more ephemeral aquatic habitats. Thus, populations of lotic species will be more structured than those of lentic species. Stream courses include both flowing water and small, stagnant microhabitats that can provide refuge when streams are low. Read More
Schizophr Res 2018 Nov 6;201:231-236. Epub 2018 Jul 6.
University Hospital of Child and Adolescent Psychiatry and Psychotherapy, University of Bern, Bern, Switzerland. Electronic address:
Background: Patients at clinical high risk (CHR) for psychosis exhibit increased striatal cerebral blood flow (CBF) during the resting state and impaired cognitive function. However, the relation between CBF and cognitive impairment is unknown. We therefore studied the association between striatal CBF and executive functioning and evaluated the functional connectivity (FC) between dorsal striatum and the frontal cortex in CHR. Read More
World J Surg 2018 12;42(12):3888-3896
Department of Surgery, University of Basel and University Hospital Basel, Spitalstrasse 21, 4031, Basel, Switzerland.
Background: Surgical site infections (SSI) are a major cause of morbidity and mortality in surgical patients. Postoperative and total hospital length of stay (LOS) are known to be prolonged by the occurrence of SSI. Preoperative LOS may increase the risk of SSI. Read More
Eur Radiol 2018 Jul 2. Epub 2018 Jul 2.
Department of Radiology, The University of Chicago, 5841 South Maryland Avenue, Chicago, IL, 60637, USA.
Objectives: The aim of this pilot study was to investigate the utility of haemodynamic parameters derived from dynamic contrast-enhanced computed tomography (DCE-CT) scans in the assessment of tumour response to treatment in malignant pleural mesothelioma (MPM) patients.
Methods: The patient cohort included nine patients undergoing chemotherapy and five patients on observation. Each patient underwent two DCE-CT scans separated by approximately 2 months. Read More
Nat Ecol Evol 2018 Jul 25;2(7):1087-1092. Epub 2018 Jun 25.
Faculty of Archaeology, Leiden University, Leiden, the Netherlands.
Animal resources have been part of hominin diets since around 2.5 million years ago, with sharp-edged stone tools facilitating access to carcasses. How exactly hominins acquired animal prey and how hunting strategies varied through time and space is far from clear. Read More
J Clin Oncol 2018 Sep 14;36(26):2746-2747. Epub 2018 Jun 14.
Hedy L. Kindler, The University of Chicago, Chicago, IL; Valerie Rusch, Memorial Sloan Kettering Cancer Center, New York NY; Raphael Bueno, Harvard Medical School, Boston, MA; Nofisat Ismaila, American Society of Clinical Oncology, Alexandria VA; Harvey Pass and Daniel Sterman, New York University Langone Medical Center, New York, NY; and Raffit Hassan, National Cancer Institute, Bethesda, MD.
JNCI Cancer Spectr 2018 Feb 30;2(2):pky017. Epub 2018 May 30.
Dana-Farber/Partners CancerCare, Boston, MA.
Background: Energy balance-related risk factors for colon cancer recurrence and mortality-type II diabetes, hyperinsulinemia, inflammation, and visceral obesity-are positively correlated with consumption of refined grains and negatively correlated with consumption of whole grains. We examined the relationship between the consumption of refined and whole grains with cancer recurrence and mortality in a cohort of patients with colon cancer.
Methods: We conducted a prospective observational study of 1024 patients with stage III colon cancer who participated in a randomized trial of postoperative chemotherapy. Read More
N Engl J Med 2018 Jul 4;379(2):122-137. Epub 2018 Jun 4.
From the Peter MacCallum Cancer Centre, St. Vincent's Hospital, University of Melbourne, Melbourne, VIC, and Breast Cancer Trials Australia and New Zealand, University of Newcastle, Newcastle, NSW (P.A.F.), and the University of Sydney, Sydney (A.S.C.) - all in Australia; the Institute of Oncology of Southern Switzerland, Ospedale San Giovanni, Bellinzona (O.P.), Breast Cancer St. Gallen, St. Gallen (T.R.), and the International Breast Cancer Study Group Coordinating Center (R.M., M.R.-P., B.R., A.S.C.), University Hospital Inselspital (M.R.-P.), Bern - all in Switzerland; the University of Chicago Medical Center, Chicago (G.F.F.); the University of Calgary, Calgary, AB, Canada (B.A.W.); the Division of Medical Senology, European Institute of Oncology (M.C.), and the European Institute of Oncology and International Breast Cancer Study Group (A.G.), Milan, Ospedale Papa Giovanni XXIII, Bergamo (C.T.), Azienda Socio Sanitaria Territoriale Sette Laghi-Ospedale di Circolo and Fondazione Macchi, Varese (G.P.), Medical Oncology and Cancer Prevention, IRCCS, National Cancer Institute, Aviano (F.P., S.S.), the Department of Medicine, School of Medical Oncology, University of Udine, Udine (F.P.), Salvatore Maugeri Foundation, Pavia (L.P.), and the Hospital of Prato-Azienda Unità Sanitaria Locale Toscana Centro, Prato (A.D.L.) - all in Italy; the National Institute of Oncology, Budapest, Hungary (I.L.); Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru (H.L.G.); University Hospital 12 de Octubre, Madrid (E.C.), Vall d'Hebron Institute of Oncology and Vall d'Hebron University Hospital, Barcelona (M.B.), and Instituto Valenciano de Oncologia, Valencia (M.A.C.) - all in Spain; the Susan F. Smith Center for Women's Cancers (H.J.B., E.P.W.) and the International Breast Cancer Study Group Statistical Center, Department of Biostatistics and Computational Biology (R.D.G., M.M.R.), Dana-Farber Cancer Institute, Harvard Medical School, the Harvard T.H. Chan School of Public Health, and Frontier Science and Technology Research Foundation (R.D.G.) - all in Boston; Institut Bergonié Comprehensive Cancer Center, Université de Bordeaux, Bordeaux, France (H.R.B., M.D.); the Angeles Clinic and Research Institute, Santa Monica, CA (S.M.); Massey Cancer Center, Virginia Commonwealth University School of Medicine, Richmond (C.E.G.); Mayo Clinic, Rochester, MN (M.P.G., J.N.I.); Johns Hopkins Sidney Kimmel Comprehensive Cancer Center, Baltimore (V.S.); Fred Hutchinson Cancer Research Center, University of Washington, Seattle (N.E.D.); Weston Park Hospital, Sheffield, United Kingdom (R.C.); and the Department of Obstetrics and Gynecology, University Medical Center, Regensburg, Germany (S.B.).
Background: In the Suppression of Ovarian Function Trial (SOFT) and the Tamoxifen and Exemestane Trial (TEXT), the 5-year rates of recurrence of breast cancer were significantly lower among premenopausal women who received the aromatase inhibitor exemestane plus ovarian suppression than among those who received tamoxifen plus ovarian suppression. The addition of ovarian suppression to tamoxifen did not result in significantly lower recurrence rates than those with tamoxifen alone. Here, we report the updated results from the two trials. Read More
Stem Cells Int 2018 29;2018:6134787. Epub 2018 Apr 29.
Department of Specialties in Medicine, Hematology Service, Geneva University Hospitals, Faculty of Medicine, Geneva, Switzerland.
Mesenchymal stromal stem cells (MSC) that reside in the bone marrow (BM) can be amplified in vitro. In 2-dimension (D) cultures, MSC exhibit a morphology similar to fibroblasts, are able to inhibit T lymphocyte and natural killer cell proliferation, and can be differentiated into adipocytes, chondrocytes, or osteoblasts if exposed to specific media. Here we show that medullar MSC cultured in 2D formed an adherent stroma of cells expressing well-organized microfilaments containing -smooth muscle actin and nonmuscle myosin heavy chain IIA. Read More
J Palliat Med 2018 Jun 18;21(6):862-878. Epub 2018 May 18.
1 Department of Pediatrics, Kentucky Children's Hospital , Lexington, Kentucky.
Background: Communication is key in optimizing medical care when a child is approaching end of life (EOL). Research is yet to establish best practices for how medical teams can guide intrafamily communication (including surviving siblings) when EOL care is underway or anticipated for a pediatric patient. While recommendations regarding how medical teams can facilitate communication between the medical team and the family exist, various barriers may prevent the implementation of these recommendations. Read More
Osteoporos Int 2018 Aug 30;29(8):1783-1791. Epub 2018 Apr 30.
Department of Foods and Nutrition, The University of Georgia, 279 Dawson Hall, 305 Sanford Drive, Athens, GA, USA.
Eggs contain bioactive compounds thought to benefit pediatric bone. This cross-sectional study shows a positive link between childhood egg intake and radius cortical bone. If randomized trials confirm our findings, incorporating eggs into children's diets could have a significant impact in preventing childhood fractures and reducing the risk of osteoporosis. Read More
JAMA Oncol 2018 Jun;4(6):783-790
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts.
Importance: The American Cancer Society Nutrition and Physical Activity Guidelines for Cancer Survivors (ACS guidelines) include maintaining (1) a healthy body weight; (2) physical activity; and (3) a diet that includes vegetables, fruits, and whole grains. It is not known whether patients with colon cancer who follow these guidelines have improved survival.
Objective: To examine whether a lifestyle consistent with the ACS guidelines is associated with improved survival rates after colon cancer. Read More
Psychiatr Prax 2018 07 17;45(5):269-272. Epub 2018 Apr 17.
Helios Dr.-Horst-Schmidt-Kliniken, Klinik und Poliklinik für Psychiatrie und Psychotherapie, Wiesbaden.
We report on a 54-year-old patient who described a progressive anxiety disorder additionally recurrent sight disorders associated with room-tilt illusions and subjective visual field defects. She also reported disturbances of concentration and attention and of a modified typeface accompanied by difficulty in writing with an increase of grammatical errors. Based on the case, the relevant anamnestic and clinical data, the neuropsychological and neuroimaging findings and also differential diagnosis of the posterior cortical atrophy, a rare neurodegenerative disease, will be discussed. Read More
Sci Rep 2018 Apr 13;8(1):5960. Epub 2018 Apr 13.
Microbiology Department, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Gronostajowa 7, 30-387, Krakow, Poland.
APOBEC3 family members are cytidine deaminases with roles in intrinsic responses to infection by retroviruses and retrotransposons, and in the control of other DNA viruses, such as herpesviruses, parvoviruses and hepatitis B virus. Although effects of APOBEC3 members on viral DNA have been demonstrated, it is not known whether they edit RNA genomes through cytidine deamination. Here, we investigated APOBEC3-mediated restriction of Coronaviridae. Read More
Dermatol Online J 2018 Mar 15;24(3). Epub 2018 Mar 15.
Centro Hospitalar Lisboa Norte EPE, Hospital de Santa Maria, Serviço de Dermatologia, Lisboa, Portugal.
Kindler syndrome is a rare, autosomal recessive genodermatosis, caused by mutations in the FERMT1 gene. It is thought to be primarily a skin disease, but other organs may also be involved. We report a case of a novel mutation of FERMT1 gene in a patient with a probable new phenotype of Kindler syndrome, including colitis and primary sclerosing cholangitis. Read More
Genes Dev 2018 04 9;32(7-8):491-496. Epub 2018 Apr 9.
Department of Neurology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Pediatric low-grade gliomas (LGGs) frequently do not engraft in immunocompromised mice, limiting their use as an experimental platform. In contrast, murine Neurofibromatosis-1 () optic LGG stem cells (o-GSCs) form glioma-like lesions in wild-type, but not athymic, mice following transplantation. Here, we show that the inability of athymic mice to support o-GSC engraftment results from impaired microglia/macrophage function, including reduced expression of Ccr2 and Ccl5, both of which are required for o-GSC engraftment and optic glioma growth. Read More
J Indian Soc Periodontol 2018 Jan-Feb;22(1):60-63
Department of Periodontics, JMF's ACPM Dental College and Hospital, Dhule, Maharashtra, India.
Kindler's syndrome is a rare vesiculobullous dermatological disorder sometimes involving multiple organs. First described by Kindler. The differential diagnosis includes Rothmund-Thomson syndrome and epidermolysis bullosa. Read More
J Dtsch Dermatol Ges 2018 Mar;16(3):338-341
Department of Dermatology and Venereology, University Hospital "Alexandrovska", Faculty of Medicine, Sofia University of Medicine, Sofia, Bulgaria.
J Geriatr Oncol 2018 Jul 10;9(4):367-372. Epub 2018 Mar 10.
Department of Supportive Care Medicine, City of Hope, Duarte, CA, United States. Electronic address:
Objective: Sarcopenia is associated with poor outcomes in patients undergoing surgery for pancreatic ductal adenocarcinoma (PDAC). However, few studies have assessed changes in sarcopenia during multimodality therapy or its effect on overall survival (OS).
Methods: Computed tomography (CT) total psoas area index (TPAI) and weighted average Hounsfield units (HU) were measured at each treatment interval in patients with resectable PDAC. Read More
J Oncol Pract 2018 Apr 8;14(4):256-264. Epub 2018 Mar 8.
The University of Chicago, Chicago, IL; American Society of Clinical Oncology, Alexandria VA; and National Cancer Institute, Bethesda, MD.
J Clin Oncol 2018 Apr 28;36(11):1112-1120. Epub 2018 Feb 28.
Temidayo Fadelu, Sui Zhang, Robert J. Mayer, Shuji Ogino, Kimmie Ng, Jeffrey Meyerhardt, and Charles S. Fuchs, Dana-Farber/Partners CancerCare; Shuji Ogino, Kana Wu, Walter Willett, and Edward Giovannucci, Harvard TH Chan School of Public Health; Shuji Ogino, Edward Giovannucci, and Ying Bao, Brigham and Women's Hospital, and Harvard Medical School, Boston, MA; Donna Niedzwiecki and Xing Ye, Alliance Statistics and Data Center, Duke University, Durham; Michael Messino, Southeast Clinical Oncology Research Consortium, Mission Hospitals, Asheville, NC; Leonard B. Saltz, Memorial Sloan Kettering Cancer Center, New York, NY; Rex B. Mowat, Toledo Community Hospital Oncology Program, Toledo, OH; Renaud Whittom, Hôpital du Sacré-Coeur de Montréal, Montreal, Quebec, Canada; Alexander Hantel, Loyola University Stritch School of Medicine, Naperville; Al B. Benson, Robert H Lurie Comprehensive Cancer Center, Northwestern University; Hedy L. Kindler, University of Chicago Comprehensive Cancer, Chicago, IL; Daniel M. Atienza, Virginia Oncology Associates, Norfolk, VA; Alan Venook, University of California at San Francisco Comprehensive Cancer Center, San Francisco, CA; and Charles S. Fuchs, Yale Cancer Center, Yale School of Medicine, New Haven, CT.
Purpose Observational studies have reported increased colon cancer recurrence and mortality in patients with states of hyperinsulinemia, including type 2 diabetes, obesity, sedentary lifestyle, and high glycemic load diet. Nut intake has been associated with a lower risk of type 2 diabetes, metabolic syndrome, and insulin resistance. However, the effect of nut intake on colon cancer recurrence and survival is not known. Read More
J Thorac Oncol 2018 Jun 22;13(6):801-809. Epub 2018 Feb 22.
Cardiovascular and Thoracic Surgery, University of Texas Southwestern, Dallas, Texas.
Over the past two decades, the International Association for the Study of Lung Cancer (IASLC) Staging Project has been a steady source of evidence-based recommendations for the TNM classification for lung cancer published by the Union for International Cancer Control and the American Joint Committee on Cancer. The Staging and Prognostic Factors Committee of the IASLC is now issuing a call for participation in the next phase of the project, which is designed to inform the ninth edition of the TNM classification for lung cancer. Following the case recruitment model for the eighth edition database, volunteer site participants are asked to submit data on patients whose lung cancer was diagnosed between January 1, 2011, and December 31, 2019, to the project by means of a secure, electronic data capture system provided by Cancer Research And Biostatistics in Seattle, Washington. Read More
Indian Pediatr 2018 01;55(1):85
Department of Dermatology and STD, Lady Hardinge Medical College and associated hospitals, New Delhi, India.
Cornea 2018 Apr;37(4):442-447
Cornea Department, Fundación Oftalmológica Los Andes, Santiago, Chile.
Purpose: This study describes ophthalmologic and systemic clinical findings in different subtypes of epidermolysis bullosa (EB) establishing genotype-phenotype correlations.
Methods: A cross-sectional study was conducted in 58 patients with EB together with the Dystrophic Epidermolysis Bullosa Research Association, Chile. Data were stratified by major subtypes such as "simplex epidermolysis bullosa" (EBS), "junctional epidermolysis bullosa" (JEB), "recessive and dominant dystrophic epidermolysis bullosa" and "dominant dystrophic epidermolysis bullosa" (DDEB), and "Kindler syndrome" (KS). Read More
J Dtsch Dermatol Ges 2018 Mar 31;16(3):338-341. Epub 2018 Jan 31.
Department of Dermatology and Venereology, -University Hospital "Alexandrovska", Faculty of Medicine, Sofia -University of Medicine, Sofia, Bulgaria.
Sci Rep 2018 01 29;8(1):1821. Epub 2018 Jan 29.
Museum of Zoology (Museum für Tierkunde), Senckenberg Dresden, A. B. Meyer Building, 01109, Dresden, Germany.
Extra-Mediterranean glacial refugia of thermophilic biota, in particular in northern latitudes, are controversial. In the present study we provide genetic evidence for extra-Mediterranean refugia in two species of grass snake. The refuge of a widely distributed western European lineage of the barred grass snake (Natrix helvetica) was most likely located in southern France, outside the classical refuges in the southern European peninsulas. Read More
Cancer Epidemiol Biomarkers Prev 2018 Apr 22;27(4):438-445. Epub 2018 Jan 22.
Yale Cancer Center, Yale School of Medicine, New Haven, Connecticut.
Marine ω-3 polyunsaturated fatty acids (PUFAs), primarily found in dark fish, may prevent colorectal cancer progression, in part through inhibition of prostaglandin-endoperoxide synthase 2 (PTGS2). However, data in humans are limited. We examined marine ω-3 PUFAs and fish intake and survival among 1,011 colon cancer patients enrolled in Cancer and Leukemia Group B 89803 between 1999 and 2001 and followed through 2009. Read More