K-Sign in retrocaecal appendicitis: a case series

which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Background: Variations in position of the vermiform appendix considerably changes clinical findings. Retrocaecal appendicitis presents with slightly different clinical features from those of classical appendicitis associated with a normally sited appendix. K-sign looks for the presence of tenderness on posterior abdominal wall in the retrocaecal and paracolic appendicitis. This is the first case report of this kind in the literature. The K-sign has been named, as a mark of respect, after the region of origin of this sign, Kashmir, so called as "Kashmir Sign". The sign being present in view of inflamed appendix crossing above its non palpable position above iliac crest on the posterior abdominal wall and the tenderness is by irritation of posterior peritoneum Case presentation: The author is reporting a case series of four patients in whom a K-sign, a clinical sign, was elicited and found positive on the posterior abdominal wall for presence of tenderness in a specific area bound by the 12th rib superiorly, spine medially, lateral margin of posterior abdominal wall laterally and iliac crest inferiorly and was found to be present in three retrocaecal and one paracolic appendicitis. Each case had tenderness in this specific area o

Rare and low-frequency coding variants alter human adult height

Height is a highly heritable, classic polygenic trait with ~700 common associated variants identified so far through genome - wide association studies . Here , we report 83 height - associated coding variants with lower minor allele frequenc ies ( range of 0.1 - 4.8% ) and effects of up to 2 16 cm /allele ( e.g. in IHH , STC2 , AR and CRISPLD2 ) , >10 times the average effect of common variants . In functional follow - up studies, rare height - increasing alleles of STC2 (+1 - 2 cm/allele) compromise d proteolytic inhibition of PAPP - A and increased cleavage of IGFBP - 4 in vitro , resulting in higher bioavailability of insulin - like growth factors . The se 83 height - associated variants overlap genes mutated in monogenic growth disorders and highlight new biological candidates ( e.g. ADAMTS3, IL11RA, NOX4 ) and pathways ( e.g . proteoglycan/ glycosaminoglycan synthesis ) involved in growth . Our results demonstrate that sufficiently large sample sizes can uncover rare and low - frequency variants of moderate to large effect associated with polygenic human phenotypes , and that these variants implicate relevant genes and pathways

Giant pseudoaneurysm of the extracranial vertebral artery: case report Pseudoaneurisma gigante da artéria vertebral extracraniana: relato de caso

Pseudoaneurysms of the extracranial vertebral artery are extremely rare due to their deep location and the anatomical protection of this artery. They can be caused by cervical traumas (firearm injuries, sports, hyperextension of the neck and iatrogeny). The authors report the case of a patient who developed a giant pseudoaneurysm of the extracranial vertebral artery after surgery for the removal of a tumor of the cerebellopontine angle in which surgical lesion of the artery occurred. Treatment was performed by endovascular approach. Literature is reviewed and comments are made on the physiopathogeny of the lesion and the different forms of treatment.<br>Os pseudoaneurismas da artéria vertebral extracraniana são extremamente raros pela localização profunda e proteção anatômica desta artéria. Podem ser ocasionados por traumas cervicais (ferimentos por armas de fogo, esportes, hiperextensão do pescoço e iãtrogenias). Os autores relatam o caso de um paciente que desenvolveu um pseudoaneurisma gigante da artéria vertebral extracraniana após cirurgia para retirada de tumor de ângulo ponto cerebelar em que ocorreu a lesão cirúrgica desta artéria e cujo tratamento foi endovascular. A literatura é revisada e são feitas considerações sobre a fisiopatogenia da lesão e as várias formas de tratamento

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (vol 50, pg 26, 2017)

An amendment to this paper has been published and can be accessed via a link at the top of the paper

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (vol 50, pg 26, 2018)

A.P.R. was supported by R01DK089256. A.W.H. is supported by an NHMRC Practitioner Fellowship (APP1103329). A.K.M. received funding from NIH/NIDDK K01DK107836. A.T.H. is a Wellcome Trust Senior Investigator (WT098395) and an NIH Research Senior Investigator. A.P.M. is a Wellcome Trust Senior Fellow in Basic Biomedical Science (WT098017). A.R.W. is supported by the European Research Council (SZ-245 50371-GLUCOSEGENES-FP7-IDEAS-ERC). A.U.J. is supported by the American Heart Association (13POST16500011) and the NIH (R01DK089256, R01DK101855, K99HL130580). B.K. and E.K.S. were supported by the Doris Duke Medical Foundation, the NIH (R01DK106621), the University of Michigan Internal Medicine Department, Division of Gastroenterology, the University of Michigan Biological Sciences Scholars Program and the Central Society for Clinical Research. C.J.W. is supported by the NIH (HL094535, HL109946). D.J.L. is supported by R01HG008983 and R21DA040177. D.R.W. is supported by the Danish Diabetes Academy, which is funded by the Novo Nordisk Foundation. V. Salomaa has been supported by the Finnish Foundation for Cardiovascular Research. F.W.A. is supported by Dekker scholarship–Junior Staff Member 2014T001 Netherlands Heart Foundation and the UCL Hospitals NIHR Biomedical Research Centre. F.D. is supported by the UK MRC (MC_UU_12013/1-9). G.C.-P. received scholarship support from the University of Queensland and QIMR Berghofer. G.L. is funded by the Montreal Heart Institute Foundation and the Canada Research Chair program. H.Y. and T.M.F. are supported by the European Research Council (323195; SZ-245 50371-GLUCOSEGENES-FP7-IDEAS-ERC). I.M.H. is supported by BMBF (01ER1206) and BMBF (01ER1507m), the NIH and the Max Planck Society. J. Haessler was supported by NHLBI R21HL121422. J.N.H. is supported by NIH R01DK075787. K.E.N. was supported by the NIH (R01DK089256, R01HD057194, U01HG007416, R01DK101855) and the American Heart Association (13GRNT16490017). M.A.R. is supported by the Nuffield Department of Clinical Medicine Award, Clarendon Scholarship. M.I.M. is a Wellcome Trust Senior Investigator (WT098381) and an NIH Research Senior Investigator. M.D. is supported by the NCI (R25CA94880, P30CA008748). P.R.N. is supported by the European Research Council (AdG; 293574), the Research Council of Norway, the University of Bergen, the KG Jebsen Foundation and the Helse Vest, Norwegian Diabetes Association. P.T.E. is supported by the NIH (1R01HL092577, R01HL128914, K24HL105780), by an Established Investigator Award from the American Heart Association (13EIA14220013) and by the Foundation Leducq (14CVD01). P.L.A. was supported by NHLBI R21HL121422 and R01DK089256. P.L.H. is supported by the NIH (NS33335, HL57818). R.S.F. is supported by the NIH (T32GM096911). R.J.F.L. is supported by the NIH (R01DK110113, U01HG007417, R01DK101855, R01DK107786). S.A.L. is supported by the NIH (K23HL114724) and a Doris Duke Charitable Foundation Clinical Scientist Development Award. T.D.S. holds an ERC Advanced Principal Investigator award. T.A.M. is supported by an NHMRC Fellowship (APP1042255). T.H.P. received Lundbeck Foundation and Benzon Foundation support. V.T. is supported by a postdoctoral fellowship from the Canadian Institutes of Health Research (CIHR). Z.K. is supported by the Leenaards Foundation, the Swiss National Science Foundation (31003A-143914) and SystemsX.ch (51RTP0_151019). Part of this work was conducted using the UK Biobank resource (project numbers 1251 and 9072)

Publisher Correction:Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

In the published version of this paper, the name of author Emanuele Di Angelantonio was misspelled. This error has now been corrected in the HTML and PDF versions of the article