Neuroradiographic findings in 22q11.2 deletion syndrome

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/137685/1/ajmga38304_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/137685/2/ajmga38304.pd

Independent and Combined Effects of Exercise and Vitamin D on Muscle Morphology, Function and Falls in the Elderly

Regular exercise, particularly progressive resistance training (PRT), is recognized as one of the most effective strategies to prevent age-related muscle loss (sarcopenia), but its effects on muscle function are mixed. However, emerging data indicates that high velocity PRT (fast concentric muscle contractions) is more effective for improving functional outcomes than traditional PRT. In terms of falls prevention, high-challenging balance training programs appear to be most effective. There is also compelling evidence that supplemental vitamin D is an effective therapeutic option for falls prevention. The findings from a recent meta-analysis revealed that supplemental vitamin D at a dose of at least 700–1,000 IU/d or an achieved serum 25(OH)D level of at least 60 nmol/L was associated with reduced falls risk among older individuals. Based on these findings, it is possible that the combination of exercise and vitamin D could have a synergistic effect on muscle morphology and function, particularly since both interventions have been shown to have beneficial effects on type II “fast twitch” muscle fibers and systemic inflammation, which have both been linked to losses in muscle mass and function. Unfortunately however, the findings from the limited number of factorial 2 × 2 design RCTs indicate that additional vitamin D does not enhance the effects of exercise on measures of muscle morphology, function or falls risk. However, none of these trials were adequately powered to detect a “synergistic” effect between the two treatment strategies, but it is likely that if an exercise-by-vitamin D interaction does exist, it may be limited to situations when vitamin D deficiency/insufficiency is corrected. Further targeted research in “high risk” groups is still needed to address this question, and evaluate whether there is a threshold level of serum 25(OH)D to maximize the effects of exercise on muscle and falls risk

Velo-Cardio-Facial Syndrome: 30 Years of Study

Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlačková syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an expansive phenotype with more than 180 clinical features described that involve essentially every organ and system. The syndrome has drawn considerable attention because a number of common psychiatric illnesses are phenotypic features including attention deficit disorder, schizophrenia, and bipolar disorder. The expression is highly variable with some individuals being essentially normal at the mildest end of the spectrum, and the most severe cases having life-threatening and life-impairing problems. The syndrome is caused by a microdeletion from chromosome 22 at the q11.2 band. Although the large majority of affected individuals have identical 3 megabase deletions, less than 10% of cases have smaller deletions of 1.5 or 2.0 megabases. The 3 megabase deletion encompasses a region containing 40 genes. The syndrome has a population prevalence of approximately 1:2,000 in the United States, although incidence is higher. Although initially a clinical diagnosis, today velo-cardio-facial syndrome can be diagnosed with extremely high accuracy by fluorescence in situ hybridization and several other laboratory techniques. Clinical management is age dependent with acute medical problems such as congenital heart disease, immune disorders, feeding problems, cleft palate, and developmental disorders occupying management in infancy and preschool years. Management shifts to cognitive, behavioral, and learning disorders during school years, and then to the potential for psychiatric disorders including psychosis in late adolescence and adult years. Although the majority of people with velo-cardio-facial syndrome do not develop psychosis, the risk for severe psychiatric illness is 25 times higher for people affected with velo-cardio-facial syndrome than that of the general population. Therefore, interest in understanding the nature of psychiatric illness in the syndrome remains strong

Recurrent retroperitoneal liposarcoma in a patient with neurofibromatosis type I.

INTRODUCTION: Liposarcoma complicating neurofibromatosis is very rare. Only a few cases have been described until now. We present a case of recurrent dedifferentiated retroperitoneal liposarcoma in a patient with neurofibromatosis type I (NF-1). CASE PRESENTATION: A 47-year-old Caucasian woman with NF-1 presented to the hospital initially complaining of left lumbar pain irradiating to the anterior thigh and knee. Physical examination showed atrophy of the lower extremities bilaterally and decreased motor strength on the left lower extremity. Radiological studies demonstrated an enhancing lesion in the left paraspinal region, suggesting malignancy. The patient underwent local resection of tumour with safety margins. Pathological examination was consistent with dedifferentiated liposarcoma (DDLS) with positivity for MDM2 and CDK4 markers. No evidence of metastasis was noted on the radiological studies. The final diagnosis was DDLS, high-grade (G3), pT2bN0M0, stage III. After 6 weeks post-tumour resection, the patient experienced recurrence of malignancy. Chemotherapy with cisplatin and doxorubicin was initiated in the patient. CONCLUSIONS: Liposarcoma in the context of neurofibromatosis is very rare. To the best of our knowledge, only six cases have been reported until now in the literature. We are presenting this case to underline the possibility of recurrence in the case of retroperitoneal DDLSs despite local tumour resection. Also, although the role of chemotherapy is controversial we decided to start treatment with cisplatin and doxorubicin given the success of chemotherapy in similar case presentations

Development and Testing of a Decision Aid on Goals of Care for Advanced Dementia

OBJECTIVES: Decision aids are effective to improve decision-making, yet they are rarely tested in nursing homes (NHs). Study objectives were to 1) examine the feasibility of a Goals of Care (GOC) decision aid for surrogate decision-makers (SDMs)of persons with dementia; and 2) test its effect on quality of communication and decision-making. DESIGN: Pre-post intervention to test a GOC decision aid intervention for SDMs for persons with dementia in NHs. Investigators collected data from reviews of resident health records and interviews with SDMs at baseline and 3-month follow up. SETTING: Two NHs in North Carolina. PARTICIPANTS: 18 residents who were over 65 years of age, had moderate to severe dementia on the Global Deterioration Scale (GDS=5,6,7), and an English-speaking surrogate decision-maker. INTERVENTION: 1) GOC Decision Aid video viewed by the SDM, and 2) a structured care plan meeting between the SDM and interdisciplinary NH team MEASUREMENTS: Surrogate knowledge, quality of communication with health care providers, surrogate-provider concordance on goals of care, and palliative care domains addressed in the care plan. RESULTS: 89% of the SDMs thought the decision aid was relevant to their needs. After viewing the video decision aid, SDMs increased the number of correct responses on knowledge-based questions (12.5 vs 14.2, P<.001). At 3 months they reported improved quality of communication scores (6.1 vs 6.8, P=.01) and improved concordance on primary goal of care with nursing home team (50% vs 78%, P=.003). The number of palliative care domains addressed in the care plan increased (1.8 vs 4.3, P<.001). CONCLUSION: The decision-support intervention piloted in this study was feasible and relevant for surrogate decision-makers of persons with advanced dementia in nursing homes, and it improved quality of communication between SDM and NH providers. A larger randomized clinical trial is underway to provide further evidence of the effects of this decision aid intervention