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Mika Shapira Rootman Yael Goldberg Rony Cohen Nesia Kropach Inbal Keidar Rivka Friedland Gad Dotan Osnat Konen Helen Toledano 《Clinical genetics》2020,97(2):296-304
Constitutional mismatch repair deficiency is a rare cancer predisposition syndrome caused by biallelic mutations in one of the four mismatch repair genes. Patients are predisposed to various tumors including hematological malignancies, brain tumors and colorectal carcinomas. Phenotypic overlap with Neurofibromatosis-1 is well known, with most patients presenting with café-au-lait macules. Other common features include axillary and/or inguinal freckling and intracranial MRI foci of high T2W/FLAIR signal intensity similar to the typical FASI seen in Neurofibromatosis-1. In this cohort of eight patients with constitutional mismatch repair deficiency we describe overlapping phenotypical features with Tuberous Sclerosis complex. In addition to “ash-leaf like” hypomelanotic macules (five patients), we detected intracranial tuber-like lesions (three patients), renal cysts (three patients) and renal angiomyolipomas (two patients). All our patients also had Neurofibromatosis-1 like features, mainly café-au-lait macules. This study suggests that features of Tuberous sclerosis especially when overlapping with those of Neurofibromatosis 1 or malignancies atypical for these syndromes should raise the possibility of constitutional mismatch repair deficiency. Correct diagnosis is essential for appropriate genetic counseling and pre-emptive cancer surveillance. 相似文献
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Spinal mobilisations are a common form of treatment intervention applied by physiotherapists in clinical practice to manage musculoskeletal pain and/or dysfunction. Previous research has demonstrated that mobilisations cause a hypoalgesic effect. However, there is very little research investigating the optimal treatment dose inducing this effect.AimTo investigate the effect of the number of sets (up to 5) and different durations (30 vs. 60 s) on pressure pain thresholds (PPTs) at different sites.MethodsThis single-blinded, randomised, same subject repeated measures crossover design included 19 asymptomatic healthy volunteers. The participants received 5 sets of either 30 or 60 s of postero-anterior mobilisations to L4 on different days. PPTs were measured immediately before, between and after the intervention at 4 different standardised sites.ResultsA 4-way ANOVA analysis revealed that there was no statistically significant difference between 30 versus 60 s of mobilisations. However, there was a tendency for PPT values to be higher for the 60 s intervention. All PPT measurements after the interventions were significantly higher than the baseline. Only the measurement after the 4th set of mobilisations was significantly higher than the measurement after the 1st set (p = 0.035).ConclusionsThe results suggest that in order to induce the greatest local hypoalgesia, at least 4 sets of mobilisations are required. The different durations of 30 versus 60 s of mobilisation may not change the extent of the hypoalgesic effect. 相似文献
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Possti Daniel Fahoum Firas Sosnik Ronen Giladi Nir Hausdorff Jeffrey M. Mirelman Anat Maidan Inbal 《Journal of neurology》2021,268(1):161-168
Journal of Neurology - The ability to maintain adequate motor-cognitive performance under increasing task demands depends on the regulation and coordination of neural resources. Studies have shown... 相似文献
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Parents’ representations include parents’ views of their adolescent, of their own parenting and of the parent–adolescent relationship. Two longitudinal studies of parents and their adolescent sons and daughters support the validity of scales coding mothers in the Parenting Representations Interview-Adolescence (PRI-A). The studies, conducted in Israel during the transition from home to military service, demonstrated that three dimensions derived from the PRI-A: positive representations of adolescents, negative emotionality and inadequate boundaries were associated with adolescents’ AAI variables, relatedness-autonomy behaviors with mothers, and with other indicators, such as adolescents’ wellbeing, romantic intimacy and individuation. Examining parenting representations could help practitioners pinpoint targets for intervention and evaluate the changes that families go through during psychotherapy, as well as the therapeutic process and its outcomes. The findings support the viability of the PRI for use in attachment based interventions for adolescents. 相似文献
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Recent studies in adults suggest that pituitary deficiencies develop in a considerable proportion of patients who recover from infectious meningitis. The aim of this study was to evaluate pituitary function of children with a history of meningitis. Seventy-nine children were admitted to the Safra Children’s Hospital due to meningitis between 2007 and 2010. Twenty-four families were lost for follow-up, 55 were interviewed by phone and 14 (9 males) participated in the study. Evaluation included medical history, physical examination, auxological measurements and basal levels of TSH, fT4, cortisol and IGF1. Children with abnormal results were followed for a year and dynamic testing was performed when indicated. Mean age at time of infectious meningitis was 3.8 ± 5.4 years (range 0.03–15.8), and at clinical evaluation 6.4 ± 6.4 (range 1.2–20). The interval between the acute event and evaluation was 2.7 ± 1.2 years. Thyroid function tests and basal cortisol levels were normal for all children. Three children had low IGF1 levels; however over a year of follow-up two of them had normal height and growth velocity, making growth hormone deficiency unlikely. One child had low height SDS, but exhibited a normal response to a growth hormone stimulation test. Pituitary dysfunction with overt clinical symptoms is not a frequent consequence of acute meningitis in children. Follow-up of growth and puberty of children post-meningitis by the primary care physician is probably sufficient. Invasive assessments should be reserved for selected cases where there is slow growth or other clinical suspicion of hypopituitarism. 相似文献
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Shalish M Cooper-Kazaz R Ivgi I Canetti L Tsur B Bachar E Chaushu S 《European journal of orthodontics》2012,34(6):724-730
This prospective study examined the adult patient's perception of recovery after insertion of three types of orthodontic appliances: Buccal, Lingual and Invisalign. The sample consisted of sixty-eight adult patients (45 females and 23 males) who comprised three groups: 28 Buccal, 19 Lingual, and 21 Invisalign patients. After appliance insertion, patients completed a Health-Related Quality of Life questionnaire daily for the first week and again on day 14, in order to assess patients' perception of pain and analgesic consumption. In addition, four areas of dysfunction were assessed: oral dysfunction, eating disturbances, general activity parameters, and oral symptoms. Lingual appliance was associated with more severe pain and analgesic consumption, the greatest oral and general dysfunction, and the most difficult and longest recovery. The Invisalign patients complained of relatively high levels of pain in the first days after insertion; however this group was characterized by the lowest level of oral symptoms and by a similar level of general activity disturbances and oral dysfunction compared to the Buccal appliance. Many Lingual and some Buccal patients did not reach a full recovery from their eating difficulties by the end of the study period. The present study provides information to adult patients and clinicians assisting them in choosing the most appropriate treatment modality in relation to Health-Related Quality of Life parameters. 相似文献