- A Long-Term Follow-Up Study on Disclosing Genetic Risk Information (APOE) to Promote Healthy Lifestyles in Finland. [Journal Article]
- LGLifestyle Genom 2019 Jun 24; :1-8
- CONCLUSIONS: Receiving information on increased personal genetic risk (carrier status of APOE ε4)for CVD provided the motivation for improvements in health behaviour. The resulting changes, while modest, in most cases remained visible even after a number of years.
- Disease course, progression and activity of neuromyelitis optica (NMOSD) in patients who were treated with Rituximab, 6 and 12 months after receiving the first dose of drug, in Isfahan city. [Journal Article]
- MSMult Scler Relat Disord 2019 Jun 20; 34:77-82
- CONCLUSIONS: In the current study, we found that Rituximab can significantly improve disability state and also can markedly reduce relapse rate in NMOSD patients.
- Ongoing issues with the management of children with Constitutional Mismatch Repair Deficiency syndrome. [Letter]
- EJEur J Med Genet 2019 Jun 21; :103706
- Constitutional Mismatch Repair Deficiency (CMMRD) is a rare cancer predisposition syndrome, presenting in childhood, in which affected patients develop various malignancies such as hematological, gas…
Constitutional Mismatch Repair Deficiency (CMMRD) is a rare cancer predisposition syndrome, presenting in childhood, in which affected patients develop various malignancies such as hematological, gastrointestinal and central nervous system tumors. Although guidelines are being increasingly developed for surveillance and early detection of cancers in affected families, there are no clear recommendations regarding choice of therapy and very scarce information about tolerance to chemotherapy and radiation in these patients. We report the pedigree of a consanguineous family with four affected children. Although clinical and molecular tests confirm CMMRD, genetic testing revealed heterogeneous mutations. The index case developed severe toxicity from therapy for glioblastoma and T-cell leukemia and died from an infection while in complete remission. His sister developed a malignant brain tumor while undergoing surveillance for a low grade brain lesion and is still undergoing follow-up. This family illustrates the difficulties and opportunities with challenging diagnosis, surveillance and choice of therapy for children with CMMRD and the need for increased awareness and more information about this rare but important syndrome.
- Thoracic Aortic, Aortic Valve and Mitral Valve Surgery in Pediatric and Young Adult Patients with Marfan Syndrome: Characteristics and Outcomes. [Journal Article]
- STSemin Thorac Cardiovasc Surg 2019 Jun 21
- CONCLUSIONS: Postoperative complications are common in pediatric and young adult patients with MFS after intervention on the MV, AV, and TA, although mortality is relatively low.
- Assessing Children's Eudaimonic Well-Being: The PROMIS Pediatric Meaning and Purpose Item Banks. [Journal Article]
- JPJ Pediatr Psychol 2019 Jun 24
- CONCLUSIONS: The PROMIS Pediatric Meaning and Purpose item banks and their short forms are ready for use in clinical research and practice. They are measures of children's eudaimonic well-being and indicative of children's hopefulness, optimism, goal-directedness, and feelings that life is worth living.
- Decision Aids for Prostate Cancer Screening Choice: A Systematic Review and Meta-analysis. [Journal Article]
- JIMJAMA Intern Med 2019 Jun 24
- CONCLUSIONS: The results of this study provide moderate-quality evidence that decision aids compared with usual care are associated with a small decrease in decisional conflict and low-quality evidence that they are associated with an increase in knowledge but not with whether physicians and patients discussed prostate cancer screening or with screening choice. Results suggest that further progress in facilitating effective shared decision-making may require decision aids that not only provide education to patients but are specifically targeted to promote shared decision-making in the patient-physician encounter.
- Hyponatremia in patients with cancer. [Journal Article]
- COCurr Opin Nephrol Hypertens 2019 Jun 20
- CONCLUSIONS: Hyponatremia in cancer patients generally indicates advanced or severe disease but proper therapy that targets the underlying process can improve outcomes.
- [The scalp localization system of neurosurgery based on augmented reality theory]. [Journal Article]
- SWSheng Wu Yi Xue Gong Cheng Xue Za Zhi 2019 Jun 25; 36(3):428-434
- Neurosurgery navigation system, which is expensive and complicated to operate, has a low penetration rate, and is only found in some large medical institutions. In order to meet the needs of other sm…
Neurosurgery navigation system, which is expensive and complicated to operate, has a low penetration rate, and is only found in some large medical institutions. In order to meet the needs of other small and medium-sized medical institutions for neurosurgical navigation systems, the scalp localization system of neurosurgery based on augmented reality (AR) theory was developed. AR technology is used to fuse virtual world images with real images. The system integrates computed tomography (CT) or magnetic resonance imaging (MRI) with the patient's head in real life to achieve the scalp positioning. This article focuses on the key points of Digital Imaging and Communications in Medicine (DICOM) standard, three-dimensional (3D) reconstruction, and AR image layer fusion in medical image visualization. This research shows that the system is suitable for a variety of mobile phones, can achieve two-dimensional (2D) image display, 3D rendering and clinical scalp positioning application, which has a certain significance for the auxiliary neurosurgical head surface positioning.
- Disease coding systems for arthrogryposis multiplex congenita. [Journal Article]
- AJAm J Med Genet C Semin Med Genet 2019 Jun 24
- Arthrogryposis multiplex congenita (AMC) encompasses many different conditions, involves many different genes and thus can be very complex. Using historical disease coding systems to document syndrom…
Arthrogryposis multiplex congenita (AMC) encompasses many different conditions, involves many different genes and thus can be very complex. Using historical disease coding systems to document syndrome diagnoses and anomalies associated with AMC is often challenging. However, disease coding systems are necessary to provide opportunities for a standard language to be maintained and pertinent data to be identified in the pediatric AMC registry, congenital anomalies surveillance systems, and routine or administrative health information systems. The ICD-10, Orphanet, Online Mendelian Inheritance in Man, and the Human Phenotype Ontology coding and classification systems are described to establish a comprehensive coding strategy. This strategy will provide a necessary tool to contribute to a better understanding of AMC and ultimately improve the health of individuals with AMC.
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- Augmented Reality in Superficial Temporal Artery to Middle Cerebral Artery Bypass Surgery: Technical Note. [Journal Article]
- ONOper Neurosurg (Hagerstown) 2019 Jun 24
- CONCLUSIONS: AR assistance in EC-IC bypass revascularization is a versatile technical adjunct for helping surgeons to ensure the safety and efficacy of the procedure.