Results 181 to 190 of about 101,596 (292)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Ethnicity and the surgical management of early invasive breast cancer in over 164 000 women

BJS (British Journal of Surgery), EarlyView., 2020
This large national study examined in detail the patterns in surgical management of early breast cancer in women of different ethnicities. Allowing for different patterns of age and stage at presentation, the surgical management of early breast cancer was similar in all women, regardless of ethnicity. All treated the same Background Limited information
T. Gathani, K. Chiuri, J. Broggio, G. Reeves, I. Barnes   +4 more
wiley   +1 more source

Facial asymmetry and mandibular hypomobility as early indicators of temporomandibular joint involvement in juvenile idiopathic arthritis. [PDF]

Reumatologia
Pawlaczyk-Kamieńska T.
europepmc   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

European multicentre study on outcome of surgery for sporadic primary hyperparathyroidism

BJS (British Journal of Surgery), EarlyView., 2020
Some 5861 patients undergoing first‐time surgery for sporadic primary hyperparathyroidism were registered in the Eurocrine® database between 2015 and 2018. The use of intraoperative parathyroid hormone measurement decreased the risk of conversion and persistent hypercalcaemia.
A. Bergenfelz, S. van Slycke, Ö. Makay, L. Brunaud   +3 more
wiley   +1 more source

Bilateral Brucellar Sacroiliitis Mimicking Tuberculous or Inflammatory Spondyloarthropathy: A Case Report. [PDF]

Clin Case Rep
Ullah Z, Abedeen ZU, Habib MK, Ullah N, Rehman AU.   +4 more
europepmc   +1 more source

Partial unilateral lentiginosis with ipsilateral ocular involvement and seizures

Indian Journal of Dermatology, Venereology and Leprology, 2019
Vishal, Gupta, Neha, Taneja, Binod K, Khaitan, Manish, Singh   +3 more
openaire   +2 more sources

Olfactory Bulb Volume Reflects Olfactory Dysfunction and Network Organization: Insights From the Population‐Based Rhineland Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory dysfunction is common in aging and an early symptom of neurodegenerative diseases, but how structural (olfactory bulb [OB] volume) and functional (olfactory network [OFN] functional connectivity [FC]) brain features interact to shape odor identification ability remains unclear.
Weiyi Zeng, Konstantinos Melas, Santiago Estrada, N. Ahmad Aziz, Monique M. B. Breteler   +4 more
wiley   +1 more source

Complications after medullary thyroid carcinoma surgery: multicentre study of the SQRTPA and EUROCRINE® databases

BJS (British Journal of Surgery), EarlyView., 2020
This study investigated postoperative complications after surgery for medullary thyroid carcinoma (MTC) in Europe. Hypoparathyroidism, recurrent laryngeal nerve palsy and bleeding requiring reoperation occurred in 170 (26·2 per cent), 62 (13·7 per cent) and 17 (2·6 per cent) patients respectively.
D.‐J. van Beek, M. Almquist, A. O. Bergenfelz, T. J. Musholt, E. Nordenström, on behalf of the EUROCRINE® Council, M. Almquist, M. Barczynski, L. Brunaud, T. Clerici, M. H. Hansen, M. Iacobone, Ö. Makay, F. F. Palazzo, N. Muñoz‐Pérez, M. Raffaelli, P. Riss, S. van Slycke, M. R. Vriens   +18 more
wiley   +1 more source

Isolated Unilateral Heptadactyly With Combined Preaxial and Postaxial Polydactyly of the Foot in a 9-Month-Old Infant. [PDF]

Case Rep Orthop
Mallilah BP, Marua EP, Kafanabo CB, Mwasulile GL, Moshi PG.   +4 more
europepmc   +1 more source