Pompe disease diagnosis and management guideline

ACMG standards and guidelines are designed primarily as an educational resource for physicians and other health care providers to help them provide quality medical genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. in determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from these standards and guidelines.Duke Univ, Med Ctr, Durham, NC 27706 USAOregon Hlth Sci Univ, Portland, OR 97201 USANYU, Sch Med, New York, NY USAUniv Florida, Coll Med, Powell Gene Therapy Ctr, Gainesville, FL 32611 USAIndiana Univ, Bloomington, in 47405 USAUniv Miami, Miller Sch Med, Coral Gables, FL 33124 USAHarvard Univ, Childrens Hosp, Sch Med, Cambridge, MA 02138 USAUniversidade Federal de São Paulo, São Paulo, BrazilColumbia Univ, New York, NY 10027 USANYU, Bellevue Hosp, Sch Med, New York, NY USAColumbia Univ, Med Ctr, New York, NY 10027 USAUniversidade Federal de São Paulo, São Paulo, BrazilWeb of Scienc

The role of proopiomelanocortin (POMC) neurones in feeding behaviour

The precursor protein, proopiomelanocortin (POMC), produces many biologically active peptides via a series of enzymatic steps in a tissue-specific manner, yielding the melanocyte-stimulating hormones (MSHs), corticotrophin (ACTH) and β-endorphin. The MSHs and ACTH bind to the extracellular G-protein coupled melanocortin receptors (MCRs) of which there are five subtypes. The MC3R and MC4R show widespread expression in the central nervous system (CNS), whilst there is low level expression of MC1R and MC5R. In the CNS, cell bodies for POMC are mainly located in the arcuate nucleus of the hypothalamus and the nucleus tractus solitarius of the brainstem. Both of these areas have well defined functions relating to appetite and food intake. Mouse knockouts (ko) for pomc, mc4r and mc3r all show an obese phenotype, as do humans expressing mutations of POMC and MC4R. Recently, human subjects with specific mutations in β-MSH have been found to be obese too, as have mice with engineered β-endorphin deficiency. The CNS POMC system has other functions, including regulation of sexual behaviour, lactation, the reproductive cycle and possibly central cardiovascular control. However, this review will focus on feeding behaviour and link it in with the neuroanatomy of the POMC neurones in the hypothalamus and brainstem

Accuracy of fetal anatomy survey in the diagnosis of velamentous cord insertion: a case–control study

William M Curtin,1,2 Jennifer M Hill,3,4 Karmaine A Millington,2 Odessa P Hamidi,5 Stephen S Rasiah,5 Serdar H Ural1,6 1Division of Maternal-Fetal Medicine, Department of Obstetrics & Gynecology, Pennsylvania State University College of Medicine, Hershey, PA, USA; 2Department of Pathology & Laboratory Medicine, Pennsylvania State University College of Medicine, Hershey, PA, USA; 3Pennsylvania State University College of Medicine, Hershey, PA, USA; 4Department of Obstetrics & Gynecology, St Francis Hospital and Medical Center, Hartford, CT, USA; 5Department of Obstetrics & Gynecology, Pennsylvania State University College of Medicine, Hershey, PA, USA; 6Department of Radiology, Pennsylvania State University College of Medicine, Hershey, PA, USA Objective: Our objective was to determine the accuracy of ultrasound at the time of the fetal anatomy survey in the diagnosis of velamentous cord insertion (VCI). Study design: This retrospective case–control study identified placentas with VCI (cases) and randomly selected placentas with normal placental cord insertion (PCI) (controls) as documented by placental pathology for mothers delivered from 2002 through 2015. Archived ultrasound images for PCI at the time of the fetal anatomy survey were reviewed. Data analysis was by calculation of sensitivity, specificity, and accuracy and their 95% CI for the ultrasound diagnosis of VCI. Results: The prevalence of VCI was 1.6% of placentas submitted for pathologic examination. There were 122 cases of VCI and 347 controls with normal PCI. The performance criteria calculated for the diagnosis of VCI at the time of fetal anatomy survey were as follows: sensitivity 33.6%; 95% CI: 25.3, 42.7; specificity 99.7%; 95% CI: 98.4, 99.9 and accuracy 82.5; 95% CI: 80.5, 82.9. Conclusion: The identification of a VCI at the time of fetal anatomy survey is highly specific for the presence of a VCI as documented by placental pathology. The sensitivity in this study was less than expected. Sensitivity could be improved by reducing the number of nonvisualized PCIs, creating an awareness of risk factors for VCI, and obtaining more detailed images in the case of an apparent marginal PCI. Keywords: velamentous, placental cord insertion, placental pathology, sensitivity, specificity, accurac

Treatment results of pathological fractures of the long bones: a retrospective analysis of 88 patients

Due to the advances in oncological therapy, the life expectancy of patients with malignant tumours and the incidence of pathological fractures have increased over the last decades. Pathological fractures of the long bones are common complications of metastatic disease; however, the outcome of different surgical techniques for the treatment of these fractures has not been clearly defined. The aim of this study was to evaluate differences in patient’s survival and postoperative complications after the treatment of pathological fractures of the long bones. Eighty-eight patients with 96 pathological fractures of the long bones were analysed retrospectively. Seventy-five patients with 83 fractures received surgical treatment. The operative treatments used were intramedullary fixation, gliding screws, plate osteosynthesis or arthroplasty. Five patients were still alive at the end of data collection at a median time of 42.5 months, and 16.2% survived 1 year, 7% 2 years and 4% more than 3 years postoperatively. All surgically treated patients had a reduction of local pain and were able to walk after the operation. The overall rate of complications was 8%. Early palliative treatment of pathological fractures of the long bones is indicated in most patients in the advanced stage of metastatic disease. The low complication rate, reduction of local pain and early mobilisation justify the surgical stabilisation of fractures in this cohort of patients