Churchillcarrillo8257

To the best of our knowledge, this is the first case of osteoblastoma that was treated with carbon ion radiotherapy after multiple surgeries.Background Methylmalonic Aciduria and Homocystinemia, cobalamin C (cblC) is an inherited disease of vitamin B12 metabolism with a wide spectrum of clinical manifestations. cblC presenting with pulmonary hypertension (PH) as leading sympotom is rare and easily misdiagnosed because of limited awareness. Timely diagnosis is crucial by the relentless progression without appropriate treatment. Case presentation We reported a 12-year-old girl with a 3-year history of progressively reduced activity tolerance and a 3-month history of orthopnea. Metabolic testing revealed increased levels of plasma homocysteine and urine methylmalonic acid. cblC deficiency was subsequently confirmed by genetic testing. The patient was treated with hydroxocobalamin, betaine, folinic acid and levocarnitine for cblC disease. Sildenafil, bosentan, spironolactone and hydrochlorothiazide was administrated for PH and right heart failure. At 3-month follow-up, she had an apparent resolution of dyspnea and cyanosis. Metabolic abnormalities resolved the decrease of plasma homocysteine and urine methylmalonic acid. A right heart catheterization showed a reduced pulmonary pressure. Conclusions This case emphasizes the importance of an early diagnosis and initiation of treatment for cblC deficiency. Unexplained PH in children and young adults should prompt metabolic screening for the differential diagnosis.Background Sarcopenia is defined by a loss of skeletal muscle mass with or without loss of fat mass. Tanespimycin Sarcopenia has been associated to reduced tolerance to treatment and worse prognosis in cancer patients, including patients undergoing surgery for limited oesophageal cancer. Concomitant chemo-radiotherapy is the standard treatment for locally-advanced tumour, not accessible to surgical resection. Using automated delineation of the skeletal muscle, we have investigated the prognostic value of sarcopenia in locally advanced oesophageal cancer (LAOC) patients treated by curative-intent chemo-radiotherapy. Methods The clinical, nutritional, anthropometric, and functional-imaging (18FDG-PET/CT) data were collected in 97 patients treated between 2006 and 2012 in our institution. The skeletal muscle area was automatically delineated on cross-sectional CT images acquired at the 3rd. lumbar vertebra level and divided by the patient's squared height (SML3/h2) to obtain the Skeletal Muscle Index (SMI). The primary endpoint was overall survival probability. Results Seventy-six deaths were reported. The median survival time was 27 [95% Confidence Interval 23-40] months for the whole population. Univariate analyses (Cox Proportional Hazard Model) showed decreased survival probabilities in patients with reduced SMI, WHO > 0, Body Mass Index ≤21, and Nutritional Risk Index ≤97.5. Multivariate analyses showed that sarcopenia was the only significant prognostic factor (HR 2.32 [1.24-4.34], p = 0.008). Using Receiver Operating Characteristics curves, the Area Under the Curve (AUC) was 0.73 in males (p = 0.0002], the optimal threshold being 51.5 cm2/m2. In women, the AUC was 0.65 (p = 0.19). Conclusion Sarcopenia is a powerful independent prognostic factor, associated with a rise of the overall mortality in patients treated exclusively by radiochemotherapy for a locally advanced oesophageal cancer. L3 CT images are easily gathered from 18FDG-PET/CT acquisitions.As a critical internal RNA modification in higher eukaryotes, N6-methyladenosine (m6A) has become the hotspot of epigenetics research in recent years. Extensive studies on messenger RNAs have revealed that m6A affects RNA fate and cell functions in various bioprocesses, such as RNA splicing, export, translation, and stability, some of which seem to be directly or indirectly regulated by noncoding RNAs. Intriguingly, abundant noncoding RNAs such as microRNAs, long noncoding RNAs, circular RNAs, small nuclear RNAs, and ribosomal RNAs are also highly modified with m6A and require m6A modification for their biogenesis and functions. Here, we discuss the interaction between m6A modification and noncoding RNAs by focusing on the functional relevance of m6A in cancer progression, metastasis, drug resistance, and immune response. Furthermore, the investigation of m6A regulatory proteins and its inhibitors provides new opportunities for early diagnosis and effective treatment of cancer, especially in combination with immunotherapy.Background Transient lesions in the splenium of the corpus callosum have been identified in many clinical cases, and often correspond to a metabolic insult to the brain. The syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis (HaNDL syndrome) is a rare but under-recognised headache syndrome. Case A 47-year-old man presented to our hospital with a 2-week history of intermittent headache, and acute right sided hemisensory deficit. A CSF lymphocytosis was found and a diagnosis of HaNDL was made. A lesion in the splenium of the corpus callosum was identified on MRI. CSF lymphocytosis and the splenial lesion resolved on follow up 4 weeks later. Conclusion These two entities are uncommon but increasingly recognised. The co-incidence in this patient raises the possibility of similar underlying pathological mechanisms, including vasomotor changes in blood vessels, cortical spreading depression and glutamate excitotoxicity leading to intra-myelinic oedema. Awareness of these entities will allow prompt diagnosis, preventing unnecessary tests and treatment, and allow appropriate patient management.Research highlights the benefits of regular traditional multicomponent training in older adults. The potential effect of exergames on perceptive-cognitive and physical function in pre-frail older adults is still little explored. The study aimed to compare the effects of two physical exercise training programs (exergaming vs. traditional multicomponent) on perceptive-cognitive and physical functions of pre-frail older adults. This study was a randomized controlled trial having 66 pre-frail older adults assigned to two groups (Exergames [EG] n = 32, 70.84 ± 4.53 years; Multicomponent [MG] n = 34, 70.76 ± 5.60 years). Frailty phenotype, fall history, basic and advanced cognition, perceptual, physical (mobility, gait speed, and balance) and muscle (strength and power) functions were evaluated. Intervention was conducted during12 weeks. The EG and MG groups performed similar exercise routines involving the main lower limb muscle groups required in daily activities. A mixed model ANOVA and effect size (d) revealed that both programs were effective in postponing frailty status, reducing the fear of falling (EG d=1.