What is Genomic Imprinting?
Discussion Silver-Russell syndrome (SRS) is a rare genetic syndrome first characterized by Silver in 1953 and Russell in 1954. Patients with SRS have characteristic growth patterns and clinical findings, although within an individual patient there are phenotypical differences. Patients are born small-for-gestational age (SGA) but have a relative macrocephaly. There is postnatal growth failure and difficulty feeding, with a very low body mass index. Body asymmetry (e.g. hemihypertrophy) and facial features (i.e. protruding forehead, triangular facies, micrognathia, dental anomalies, downturned mouth corners, and ear anomalies) are characteristic features. Patients need multidisciplinary specialist care. SGA and feeding difficulties make patients often difficult to manage. Patients have lower muscle mass and excess calories quickly go to excess fat mass if patients are overfed. Gastroenterology, nutrition, speech therapy and psychology often manage these problems. Short stature can be marked (
ConclusionsExtra-pelvic endometriosis, traditionally thought to be rare, have been reported in a considerable number of cases. Heightened awareness and clinical suspicion of the disease, and multi-disciplinary approach is recommended to achieve prompt diagnosis and optimize patient outcomes. At this time, there are no comparative studies to provide recommendations regarding optimal diagnostic methods, treatment options and outcomes for endometriosis involving extra-pelvic sites.
Publication date: Available online 12 October 2019Source: Multiple Sclerosis and Related DisordersAuthor(s): Shahin Khayambashi, Amber Salter, Tuula Tyry, Gary R Cutter, Robert J Fox, Ruth Ann MarrieAbstractObjectiveWe aimed to determine the association between gender identity and sexual orientation on healthcare-related utilization in persons with multiple sclerosis (MS), as well as satisfaction with their doctor and comfort discussing sexual health with their doctor.MethodsWe surveyed participants from the North American Research Committee on Multiple Sclerosis (NARCOMS) Registry regarding their gender identity and sexua...
ConclusionsGVS appeared as a well-tolerated and powerful procedure for the relief of experimental pain, probably through physiological interaction within insular nociceptive networks. Either isolated or in combination with other types of vestibular activation (e.g., optokinetic stimuli), GVS deserves being tested in clinical settings.
Publication date: Available online 12 October 2019Source: Journal of Hospital InfectionAuthor(s): Jaspreet Dhanda, James Gray, Ellen Knox, Amreen Bashir
ConclusionIn summary, our results show that farms are an important reservoir of colistin-resistant E.coli, added to other additional genes, such as blaESBL. The transfer of manure from animals to soil and irrigation water might be spreading a mix of multiple resistances, posing a worrying threat to human health.Graphical abstract
ConclusionThe twin block is effective in the long-term management of masticatory myofascial pain as compared to trigger point injections.Trial RegistrationClinicalTrials.gov Identifier: NCT03870191
ConclusionNeedle flexor tenotomies are a relatively safe and effective treatment compared to tenotomies done by scalpel, both as treatment for ulcers and to prevent formation of new ulcers associated with hammer, mallet and claw toe deformities. As a side note, transfer complications are avoidable if all toes on one or both feet are tenotomized in one procedure.
ConclusionOur study showed a significant association between alterations in intestinal microbial composition and T1D; however, in some articles, it is not clear which one happens first. Investigation of altered gut microbiota can help in the early detection of T1D before seropositivity. Targeted microbiome modulation can be a novel potential therapeutic strategy.
We report the case of a 17-year-old patient with recurrent hemorrhagic pericardial effusion, who was diagnosed with primary pericardial fibrosarcoma. However, multiple radiological examinations, including CT and [18F] FDG/PET-CT, suggested the presence of fluid and no sign of tumor. Actually, when a patient presents with recurrent hemorrhagic pericardial effusions, pericardial tumors must be taken into account as part of the differential diagnosis.
Conclusions: The DC-TAV program is an ambitious, civilian-military, nationwide and long-term program, based on a harmonised standard of care and including multidimensional training. Further studies are required to assess its efficacy.
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