Spondiloepifizyal displazya konjenitalı, karakteristik olarak normal eller ve ayaklar, paytak yürüyüş, pektus karinatus, kısa boyun ve yassı yüzlü 7 yaşında bir erkek vaka sunuldu. Radyolojik bulgular epifizler ve metafizlerde nokta kalsifikasyonlar, sklerotik ve radyolusent bölgelerle metafizin genişlemesiyle metafizyel disorganizasyon, generalize osteopeni ve geri kalmış kemik yaşını içerir. ...

Electron donor-acceptor or EDA complexes are common precursors leading to a variety of organic and organometallic reactions, as indicated by the ubiquitous appearance of characteristic charge-transfer absorption bands. Structural effects of HOMO-LUMO interactions extant in donor-acceptor pairs, established by X-ray crystallography, are critical to the charge-tranfer excitation of various types ...

Visinoni AF, Lisboa-Costa T, Pagnan NA et al. (2009) Ectodermal dysplasias: clinical and molecular review. Am J Med Genet A 149A: 1980–2002 Wolff S, Talos F, Palacios G et al. (2009) The alpha/beta carboxy-terminal domains of p63 are required for skin and limb development. New insights from the Brdm2 mouse which is not a complete p63 knockout but expresses p63 gamma-like proteins. Cell Death Di...

During meiosis, recombination events that occur between homologous chromosomes help prepare the chromosome pairs for proper disjunction in meiosis I. The concurrent action of the Rad51 and Dmc1 recombinases is necessary for an interhomolog bias. Notably, the activity of Rad51 is tightly controlled, so as to minimize the use of the sister chromatid as recombination partner. We demonstrated recen...

Anterior knee pain due to dysplasia of the extensor mechanism is common. We have studied 137 knees (103 patients) in order to identify a rapid and reproducible radiological feature which would indicate the need for further analysis. Overall, 67 knees (49%) had at least one radiological abnormality; 70 (51%) were considered normal. There were five cases of Dejour type-3 dysplasia of the femoral ...

BACKGROUND In vitro testing is commonly used to diagnose and manage allergies. Clinical reactivity has been correlated with food-specific IgE levels by using the ImmunoCAP (Phadia, Uppsala, Sweden). OBJECTIVE To determine whether IgE levels derived from different assays are equivalent to those measured by ImmunoCAP. METHODS Fifty patients from the Mount Sinai Pediatric Allergy practice were...

Ectodermal dysplasia (ED) is a genetically heterogeneous condition resulting from clinical anomalies of structures derived from the ectoderm, such as the hair, nails, sweat glands, and teeth. This clinical report presents the case of a child diagnosed with hypohidrotic ED at 2 years of age; clinical and imaging evaluation was performed with 6-year follow-up, and we present details of the prosth...

Title: Pro-Adrenomedullin predicts 10-year all-cause mortality in community-dwelling patients: a prospective cohort study Authors: Jonas Odermatt ([email protected]) Marc Meili ([email protected]) Philipp Schuetz ([email protected]) Lara Hersberger ([email protected]) Rebekka Bolliger ([email protected]) Mirjam Christ-Crain ([email protected]) Matthias B...

Progressive pseudorheumatoid arthritis of childhood is an uncommon arthropathy of unknown aetiology, which is related to spondyloepiphyseal dysplasia tarda. Previous reports have noted the absence of joint inflammation in this disease. An adult is described here with this arthropathy, who developed episodic acute inflammatory arthritis that mimicked septic arthritis, but proved to be pseudogout...

Despite more than 10 years of research into the usefulness of procalcitonin therapy, Hausfater is right to point out that ‘its exact place in the diagnostic process remains to be defined’ [2]. Both the articles of McLean and of Christ-Crain and Müller have proposed further study of alternative novel biomarkers [3,4]. Early diagnosis of sepsis linked to timely but limited use of antibiotics rema...