Will precision medicine be available for all patients in the near future?

Purpose of review Evidence-based medicine and guidelines directing the diagnosis and treatment of patients are changing. General recommendations are moving towards an individual focus, where technology evolution allows identification of specific patterns and where 'one size fits all' no longer has a place. Recent findings Emerging innovations on health technology include useful tools for individualizing patients' specific conditions and follow-up. There are several preventive initiatives that aim to reduce allergic disease development, but they have no generalizable and definitive results as yet. Both omics and molecular diagnosis have provided the basis for differentiating clusters of patients, both allowing prediction of severity and also indicating appropriate management. Here we discuss examples contributing to some specific conditions we are now facing. Summary Precision medicine encompasses a personalized care of the patient, the prediction of a successful treatment, the potential prevention of a disease and its progression when present and the important active participation of the patient in the planning and guidance of the approach and management. Technology and medical innovations like omics and molecular diagnosis help for discriminating specific phenotypes/endotypes and the correct individualized interventions. The great challenge for implementing precision medicine will be the possibility of providing those advances to everyone at affordable costs. Conclusion Technology and innovations in medicine are aimed to help all patients globally, providing evidence for particular conditions that need to be personally considered, involving the patient's decision while treating, predicting and preventing disease. Our aim should be to have precision medicine available everywhere at any time. Correspondence to René Maximiliano Gómez, Sarmiento 771, Salta 4400, Argentina. Tel: +54 9 387 464 5561; fax: +54 387 432 0886; e-mails: maxigom@gmail.com, mgomez@fundacionayre.org.ar Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.

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Biliary Bicarbonate, pH and Glucose Are Suitable Biomarkers of Biliary Viability During Ex Situ Normothermic Machine Perfusion of Human Donor Livers

Background Ex situ normothermic machine perfusion (NMP) can be used to assess viability of suboptimal donor livers prior to implantation. Our aim was to assess the diagnostic accuracy of bile biochemistry for the assessment of bile duct injury (BDI). Methods In a preclinical study, 23 human donor livers underwent 6 hours of end-ischemic NMP to determine biomarkers of BDI. Livers were divided into groups with low or high BDI, based on a clinically relevant histological grading system. During NMP, bile was analyzed biochemically and potential biomarkers were correlated with the degree of BDI. Receiver operating characteristics curves were generated to determine optimal cut-off values. For clinical validation, identified biomarkers were subsequently included as viability criteria in a clinical trial (n=6) to identify transplantable liver grafts with low BDI. Results Biliary bicarbonate and pH were significantly higher and biliary glucose was significantly lower in livers with low BDI, compared to high BDI. The following cut-off values were associated with low BDI: biliary bicarbonate >18 mmol/L (P=0.002), biliary pH >7.48 (P=0.019), biliary glucose

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Proliferating Trichilemmal Tumor of the Auricula: A Very Rare Locus

Abstract

Proliferating trichilemmal tumor (PTT) is a rare but morphologically characteristic tumor, derived from the external root sheath. They are commonly localized as a solitary lesion on the scalp. They rarely occur in other regions. PTTs generally behave in a benign fashion, up to 20% of the lesions may undergo malignant transformation into squamous carcinoma. We present an elderly woman with a cystic swelling on the crus of auricular helix diagnosed as PTT. To our knowledge, this is the first case in the English literature, of PTT of the auricula.

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Proliferating Trichilemmal Tumor of the Auricula: A Very Rare Locus

Abstract

Proliferating trichilemmal tumor (PTT) is a rare but morphologically characteristic tumor, derived from the external root sheath. They are commonly localized as a solitary lesion on the scalp. They rarely occur in other regions. PTTs generally behave in a benign fashion, up to 20% of the lesions may undergo malignant transformation into squamous carcinoma. We present an elderly woman with a cystic swelling on the crus of auricular helix diagnosed as PTT. To our knowledge, this is the first case in the English literature, of PTT of the auricula.

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The long and the short of it: insights into the cellular source of autoantibodies as revealed by B cell depletion therapy

Malika Hale | David J Rawlings | Shaun W Jackson

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Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response

Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder primarily caused by GATA3 haploinsufficiency and is challenging to diagnose in early childhood. We report a Japanese family with HDR syndrome and congenital choanal atresia. The 6-year-old female proband was diagnosed with epilepsy at the age of three. Under carbamazepine monotherapy, the patient presented hypoparathyroidism accompanied by severe hypocalcemia. Subsequently, renal ultrasound analysis revealed bilateral multicystic dysplastic kidneys.

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A Retrospective Study: Application Site Pain with the Use of Crisaborole, a Topical PDE4 Inhibitor

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