- GeneReviews® [BOOK]
- BOOKUniversity of Washington, Seattle: Seattle (WA)
- Infants withISCA2-related mitochondrial disorder (IRMD) typically attain normal development in the first months of life. At age three to seven months, affected individuals usually present with a tria...
Infants withISCA2-related mitochondrial disorder (IRMD) typically attain normal development in the first months of life. At age three to seven months, affected individuals usually present with a triad of neurodevelopmental regression, nystagmus with optic atrophy, and diffuse white matter disease. As the disease progresses, global psychomotor regression continues at a variable pace and seizures may develop. Affected children become vegetative within one to two years. During their vegetative state, which may persist for years, affected individuals are prone to recurrent chest infections that may require ventilator support. Most affected individuals die during early childhood.
- [Breast Cancer: Diagnostics and Therapy - the Most Important Facts for Internists]. [Journal Article]
- DMDtsch Med Wochenschr 2018; 143(4):267-278
- CONCLUSIONS: Breast carcinoma accounts for the majority of the malignant diseases in women. In Germany has an estimated incidence of 70 000 new cases per year, which is 30 % of all the malignancies in women, predominantly between 45 and 83 years old, although it can affect as well younger women and men, the latter, in a very low rate. It is accountable for 17.4 % mortality in the country.The high frequency and impact of the mammary carcinoma had lead to the establishment and standardization of screening programs, encompassing self examination, early and regular consultation, sonography and mammography, aimed to the early detection not only of primary disease but also in recurrent or relapsing disease, and continued following up after treatment. Several treatment strategies and tools have been developed and are being chosen in accordance to the histology and biology of the tumor, the patient condition, the social and familiar status, with the increase of conservation of the mammary gland either by adjuvant or neoadjuvant therapies, with radiotherapy or by breast conserving surgery, improving therefore the quality of living without compromising the disease free survival. Next step in the process is the follow up, intended to maintain the patients the healthiest possible, not only from the malignancy but also minimizing the effects of the treatment strategies, incorporating lifestyle improving measures e.g. sports and nutrition, and alternative medicine resources like acupuncture, hence improving the disease free survival rate, the overall survival and diminishing the disease related impact yet personal, familiar, social and economical.The aim of this CME is to give a thorough review of this multifactorial entity, helping the healthcare professional understand the scientific aspects of it and, through comprehensive reading, provide a clear understanding of their role and degree of involvement in the breast cancer management process.
- Obesity associated advanced glycation end products within the human uterine cavity adversely impact endometrial function and embryo implantation competence. [Journal Article]
- HRHum Reprod 2018 Feb 20
- Do obese levels of advanced glycation end products (AGEs) within the uterine cavity detrimentally alter tissue function in embryo implantation and placental development?
Do obese levels of advanced glycation end products (AGEs) within the uterine cavity detrimentally alter tissue function in embryo implantation and placental development?
- Anti-interleukin 6 receptor tocilizumab in refractory uveitis associated with Behçet's disease: multicentre retrospective study. [Journal Article]
- RRheumatology (Oxford) 2018 Feb 19
- CONCLUSIONS: TCZ could be a therapeutic option in patients with BD and refractory uveitis.
- Neural network for nonsmooth pseudoconvex optimization with general convex constraints. [Journal Article]
- NNNeural Netw 2018 Feb 05; 101:1-14
- In this paper, a one-layer recurrent neural network is proposed for solving a class of nonsmooth, pseudoconvex optimization problems with general convex constraints. Based on the smoothing method, we...
In this paper, a one-layer recurrent neural network is proposed for solving a class of nonsmooth, pseudoconvex optimization problems with general convex constraints. Based on the smoothing method, we construct a new regularization function, which does not depend on any information of the feasible region. Thanks to the special structure of the regularization function, we prove the global existence, uniqueness and "slow solution" character of the state of the proposed neural network. Moreover, the state solution of the proposed network is proved to be convergent to the feasible region in finite time and to the optimal solution set of the related optimization problem subsequently. In particular, the convergence of the state to an exact optimal solution is also considered in this paper. Numerical examples with simulation results are given to show the efficiency and good characteristics of the proposed network. In addition, some preliminary theoretical analysis and application of the proposed network for a wider class of dynamic portfolio optimization are included.
- Targeted Next-Generation Sequencing Is a Sensitive Tool for Differential Diagnosis of Myelodysplastic Syndromes in Bone Marrow Trephines. [Journal Article]
- JMJ Mol Diagn 2018 Feb 19
- Myelodysplastic syndromes are hematological neoplasias in which immunohistological examination of bone-marrow trephines is important for a definite diagnosis. Unequivocal distinction from reactive bo...
Myelodysplastic syndromes are hematological neoplasias in which immunohistological examination of bone-marrow trephines is important for a definite diagnosis. Unequivocal distinction from reactive bone-marrow changes is, however, sometimes difficult. As neoplastic clones in myelodysplastic syndrome carry mutations in recurrent genes, mutation detection by targeted next-generation sequencing may be a useful support for differential diagnosis. To elucidate the accuracy of this approach in the clinical diagnostic setting, we analyzed single and consecutive bone-marrow trephines processed for immunohistological examination from 145 patients by targeted next-generation sequencing of 12 genes recurrently mutated in myelodysplastic syndromes. Of 110 patients with immunohistological unequivocal diagnosis, 41 of 47 with myelodysplastic syndrome carried mutations. In 14 consecutive samples available from these patients, remissions were accompanied by loss of mutations and ongoing disease with persisting mutations. Of 35 samples with indefinite immunohistological appearance, 22 developed clinical unequivocal myelodysplastic syndrome in the further course, and 19 carried mutations already in the initial biopsy, which persisted in consecutive samples available from 13 patients. No mutation was detected in any initial and consecutive sample of 13 patients with indefinite immunohistological appearance without clinical unequivocal myelodysplastic syndrome in the further course. We conclude that targeted next-generation sequencing is an accurate tool for differential diagnosis of myelodysplastic syndrome in the clinical diagnostic setting.
- Long-term surgical outcomes for large-angle, infantile esotropia. [Journal Article]
- AJAm J Ophthalmol 2018 Feb 19
- CONCLUSIONS: The overall success rate for treatment of large-angle, infantile esotropia was poor in this cohort, with most failures due to recurrent or residual esotropia. Botulinum toxin-augmented surgery was associated with a higher success rate at final follow-up.
- Past, Present and Future Approaches to the Prevention and Treatment of Respiratory Syncytial Virus Infection in Children. [Review]
- IDInfect Dis Ther 2018 Feb 22
- CONCLUSIONS: Palivizumab remains the only product licensed for RSV prophylaxis, and only available for high-risk infants. For the general population, there are several promising vaccines and monoclonal antibodies in various stages of clinical development, with the aim to significantly reduce the global healthcare impact of this common viral infection.
- Small papillary thyroid carcinoma with minimal extrathyroidal extension should be managed as ATA low-risk tumor. [Journal Article]
- JEJ Endocrinol Invest 2018 Feb 22
- CONCLUSIONS: mETE is an unfavorable prognostic factor in tumors larger than 1.5 cm, suggesting that, in the absence of other unfavorable characteristics, smaller tumors with mETE should be classified and managed as "low risk" tumors.
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- Real-World Switching to Riociguat: Management and Practicalities in Patients with PAH and CTEPH. [Journal Article]
- LUNGLung 2018 Feb 22
- CONCLUSIONS: Switching to riociguat from another PH-targeted therapy may be feasible in real-world clinical practice in the context of the current recommendations.