[Imaging strategies for knee injuries].

Injuries of the knees are common. The Ottawa knee rule provides decisional support to determine whether radiographs are indicated or not. With the use of ultrasound it is possible to detect defects of the extensor ligaments and the anterior cruciate ligament.

Results from a patient-centered medical home pilot at UPMC Health Plan hold lessons for broader adoption of the model.

The patient-centered medical home is a promising model for improving access to high-quality care for more Americans at lower cost. However, feasible pathways for achieving a transformation from current primary care practices to this new model have yet to be fully identified. We report on the experience of UPMC Health Plan-part of a large, integrated delivery and financing system headquartered in Pittsburgh, Pennsylvania-in its efforts to support primary care practices as they converted to patient-centered medical homes.

Damus-Kaye-Stansel procedure 5 years after Fontan operation with ligated main pulmonary artery.

We report a case of tricuspid atresia with transposed great arteries and rudimentary right ventricle owing to which the patient developed severe subaortic stenosis and restrictive bulboventricular foramen 5 years after her extracardiac Fontan operation. She underwent a successful modified Damus-Kaye-Stansel operation using her native pulmonary valve. Spiral cardiac computed tomography with three-dimensional reconstructions was instrumental in pre-operative surgical planning.

Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia.

We report on a boy presenting submucous cleft palate, hydronephrosis, ventriculoseptal defect, aniridia, and developmental delay. Additional material on 11p13 was cytogenetically visible and array analyses identified a duplicated segment on 15q25-26 chromosome region; further, array analyses revealed a small deletion (49 kb) at 11p13 region involving the ELP4 gene and a duplication at 8p23.1.

Epidermal and cortical roles of NFP and DMI3 in coordinating early steps of nodulation in Medicago truncatula.

Legumes have evolved the capacity to form a root nodule symbiosis with soil bacteria called rhizobia. The establishment of this symbiosis involves specific developmental events occurring both in the root epidermis (notably bacterial entry) and at a distance in the underlying root cortical cells (notably cell divisions leading to nodule organogenesis). The processes of bacterial entry and nodule organogenesis are tightly linked and both depend on rhizobial production of lipo-chitooligosaccharide molecules called Nod factors.

A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state.

Submicroscopic chromosomal anomalies play an important role in the etiology of craniofacial malformations, including midline facial defects with hypertelorism (MFDH). MFDH is a common feature combination in several conditions, of which Frontonasal Dysplasia is the most frequently encountered manifestation; in most cases the etiology remains unknown. We identified a parent to child transmission of a 6.

Technical and clinical outcome of Talent versus Endurant endografts for endovascular aortic aneurysm repair.

Objective: The technical evolution of endografts for the interventional management of infrarenal abdominal aortic aneurysms (AAA) has allowed a continuous expansion of indications. This study compares the established Talent endograft with its successor, the Endurant endograft, taking individual aortoiliac anatomy into account.

Methods: From June 2007 to December 2010, 35 patients with AAA were treated with a Talent endograft (33 men) and 36 patients with an Endurant endograft (34 men).

Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.

Background: Li-Fraumeni (LFS) and Li-Fraumeni-like (LFL) syndromes are associated to germline TP53 mutations, and are characterized by the development of central nervous system tumors, sarcomas, adrenocortical carcinomas, and other early-onset tumors. Due to the high frequency of breast cancer in LFS/LFL families, these syndromes clinically overlap with hereditary breast cancer (HBC). Germline point mutations in BRCA1, BRCA2, and TP53 genes are associated with high risk of breast cancer.

Influence of behavioral concerns and early childhood expulsions on the development of early childhood mental health consultation in Colorado.

This article examines how the Colorado study Children With Social, Emotional and Behavioral Concerns and the Providers Who Support Them (S.D. Hoover, 2006) was used to advance a statewide agenda for early childhood mental health consultation in Colorado.

Germline copy number variations and cancer predisposition.

We present an overview of the role of germline copy number variations (CNVs) in cancer predisposition. CNVs represent a significant source of genetic diversity, although the mechanisms by which they influence cancer susceptibility still remain largely unknown. Approximately 100 highly penetrant germline mutant genes are now known to cause cancer predisposition inherited in a Mendelian fashion; in this review, we show that nearly half of these genes have also been observed as rare CNVs associated with cancer.

A pilot study for clinical feasibility of the near-harmonic 2D referenceless PRFS thermometry in liver under free breathing using MR-guided LITT ablation data.

Objectives: The conventional implementations of proton resonance frequency shift (PRFS) magnetic resonance thermometry (MRT) require the subtraction of single or multiple temporal references, a motion sensitive critical feature. A pilot study was conducted here to investigate the clinical feasibility of near-harmonic two-dimensional (2D) referenceless PRFS MRT, using patient data from MR-guided laser ablation of liver malignancies.

Methods: PRFS MRT with respiratory-triggered multi-slice gradient-recalled (GRE) acquisition was performed under free breathing in six patients.

Down-regulation of ANAPC13 and CLTCL1: Early Events in the Progression of Preinvasive Ductal Carcinoma of the Breast.

Alterations in the gene expression profile in epithelial cells during breast ductal carcinoma (DC) progression have been shown to occur mainly between pure ductal carcinoma in situ (DCIS) to the in situ component of a lesion with coexisting invasive ductal carcinoma (DCIS-IDC) implying that the molecular program for invasion is already established in the preinvasive lesion. For assessing early molecular alterations in epithelial cells that trigger tumorigenesis and testing them as prognostic markers for breast ductal carcinoma progression, we analyzed, by reverse transcription-quantitative polymerase chain reaction, eight genes previously identified as differentially expressed between epithelial tumor cells populations captured from preinvasive lesions with distinct malignant potential, pure DCIS and the in situ component of DCIS-IDC. ANAPC13 and CLTCL1 down-regulation revealed to be early events of DC progression that anticipated the invasiveness manifestation.

Prospective analysis of association between use of statins and melanoma risk in the Women's Health Initiative.

Background: Melanoma is the most lethal form of skin cancer, with an estimated 68,130 new cases and 8700 deaths in the United States in 2010. The increasing incidence and high death rate associated with metastatic disease support the need to focus on prevention. The authors used data from the Women's Health Initiative (WHI) to assess whether 3-hydroxy-3 methylglutaryl coenzyme A inhibitors (statins) are associated with a decreased risk of melanoma.

Germline DNA copy number variation in familial and early-onset breast cancer.

Introduction: Genetic factors predisposing individuals to cancer remain elusive in the majority of patients with a familial or clinical history suggestive of hereditary breast cancer. Germline DNA copy number variation (CNV) has recently been implicated in predisposition to cancers such as neuroblastomas as well as prostate and colorectal cancer. We evaluated the role of germline CNVs in breast cancer susceptibility, in particular those with low population frequencies (rare CNVs), which are more likely to cause disease.

[Laser ablation. Do we still need it?].

Laser ablation (LA) is momentarily the only invasive ablation procedure besides radiofrequency ablation (RFA) which can be performed entirely under magnetic resonance imaging (MRI) guidance. The long-term outcome and morbidity profiles are broadly identical for both modalities, excluding the RFA-specific prevalence for skin burns. The technical and logistic disadvantages of LA have been overcome since the introduction of miniaturized two-component applicators.

[Thoracic aortic interventions].

The treatment of thoracic aortic diseases has undergone a paradigm shift due to the introduction and further development of interventional techniques in recent years. Thoracic endovascular aortic repair (TEVAR) of the descending aorta has significantly lower mortality and complication rates compared to open repair. Meanwhile this endovascular approach is the first option for the treatment of the majority of thoracic aortic diseases.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.

Background: Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and compared with 13 previously reported patients.

Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency.

We describe a novel chromosome microdeletion at 15q26.1 detected by oligo-array-CGH in a 6-year-old girl presenting with global development delay, epilepsy, autistic behavior and facial dysmorphisms. Although these features are often present in Angelman syndrome, no alterations were present in the methylation pattern of the Prader-Willi-Angelman critical region.

Factors associated with concordant estrogen receptor expression at diagnosis and centralized re-assay in a Danish population-based breast cancer study.

Background: Estrogen receptor (ER) expression predicts tamoxifen response, which halves the risk of breast cancer recurrence. We examined clinical factors associated with concordance between ER expression at diagnosis and centralized re-assay, and the association of concordance with breast cancer recurrence.

Material And Methods: We used immunohistochemistry to assess ER expression on archived fixed, paraffin-embedded breast carcinoma tissue excised from women aged 35-69 years, diagnosed 1985-2001 in Jutland, Denmark.

Prospective analysis of association between use of statins or other lipid-lowering agents and colorectal cancer risk.

Purpose: To determine whether 3-hydroxy-3-methylglutaryl coenzyme A inhibitors (statins) are associated with a decreased risk of colorectal cancer.

Methods: The population included 159,219 postmenopausal women enrolled in the Women's Health Initiative in which 2000 pathologically confirmed cases of colorectal cancer were identified during an average of 10.7 (S.

Nodular hemangiomatosis of pleura and peritoneum.

Multiple, simultaneously occurring hemangiomas in one or more organs are known as hemangiomatosis syndromes in the context of phacomatosis manifesting in childhood. Nevertheless, hemangiomas of the serous membranes are extremely rare and often present as solitary lesions. We report the case of an elderly patient who suffered from diffuse hemangiomatosis of the visceral peritoneum and pleura and deceased due to acute respiratory distress syndrome following persistent and unmanageable pulmonary hemorrhage.

Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.

We report on a 17-year-old patient with midline defects, ocular hypertelorism, neuropsychomotor development delay, neonatal macrosomy, and dental anomalies. DNA copy number investigations using a Whole Genome TilePath array consisting, of 30K BAC/PAC clones showed a 6.36 Mb deletion in the 9p24.

Selective microcoil embolization of arterial gastrointestinal bleeding in the acute situation: outcome, complications, and factors affecting treatment success.

Objectives: To evaluate microcoil embolization in the interventional treatment of acute upper and lower gastrointestinal bleeding.

Patients And Methods: Forty-four patients (29 men, 15 women) with active arterial gastrointestinal bleeding were treated with microcoil embolization. The analysis included technical/clinical success, morbidity, mortality, and intervention-related mortality.

Power Doppler ultrasound, but not low-field magnetic resonance imaging, predicts relapse and radiographic disease progression in rheumatoid arthritis patients with low levels of disease activity.

Objective: Subclinical inflammation and radiographic progression have been described in rheumatoid arthritis (RA) patients whose disease is in remission or is showing a low level of activity. The aim of this study was to compare the ability of ultrasonography and magnetic resonance imaging (MRI) to predict relapse and radiographic progression in these patients.

Methods: Patients with RA of short or intermediate duration that was either in remission or exhibiting low levels of activity according to the Disease Activity Score (DAS) were included in the study.