Prenatal clinical manifestations in individuals with COL4A1/2 variants.

BACKGROUND: Variants in the type IV collagen gene (COL4A1/2) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and the prenatal features of individuals with COL4A1/2 variants remain unclear. METHODS: We examined COL4A1/2 in 218 individuals with suspected COL4A1/2-related brain defects. Among those arising from COL4A1/2 variants, we focused on individuals showing prenatal abnormal ultrasound findings and validated their prenatal and postnatal clinical features in detail. RESULTS: Pathogenic COL4A1/2 variants were detected in 56 individuals (n=56/218, 25.7%) showing porencephaly (n=29), schizencephaly (n=12) and others (n=15). Thirty-four variants occurred de novo (n=34/56, 60.7%). Foetal information was available in 47 of 56 individuals, 32 of whom (n=32/47, 68.1%) had one or more foetal abnormalities. The median gestational age at the detection of initial prenatal abnormal features was 31 weeks of gestation. Only 14 individuals had specific prenatal findings that were strongly suggestive of features associated with COL4A1/2 variants. Foetal ventriculomegaly was the most common initial feature (n=20/32, 62.5%). Posterior fossa abnormalities, including Dandy-Walker malformation, were observed prenatally in four individuals. Regarding extrabrain features, foetal growth restriction was present in 16 individuals, including eight individuals with comorbid ventriculomegaly. CONCLUSIONS: Prenatal observation of ventriculomegaly with comorbid foetal growth restriction should prompt a thorough ultrasound examination and COL4A1/2 gene testing should be considered when pathogenic variants are strongly suspected.

Early prognostic factors for acute encephalopathy with reduced subcortical diffusion.

OBJECTIVE: The aim of this study was to determine the prognostic factors for acute encephalopathy with reduced diffusion (AED) during the acute phase through retrospective case evaluation. METHODS: The participants included 23 patients with AED. The diagnosis of AED was based on their clinical course and radiological findings. We divided the patients into severe and non-severe groups based on the neurodevelopmental outcome. The severe group included seven patients (median age, 21 months; range, 6-87 months) and the non-severe group included 16 patients (19 months, 9-58 months). Clinical symptoms, laboratory data and electroencephalogram (EEG) findings within 48 h from the initial seizure onset were compared between the two groups to identify neurological outcome predictors. RESULTS: The incidence of coma 12-24 h after onset, serum creatinine (Cr) levels within 2 h after onset, maximum aspartate aminotransferase (AST) levels within 24 h after onset, and the rate of electrographic seizures in EEG were significantly higher in the severe group (Coma, 80%; Cr, 0.40 mg/dl, 0.37-0.73; AST, 363 IU/L, 104-662; electrographic seizures, 80%) than the non-severe group (Coma, 0%; Cr, 0.29 mg/dL, 0.19-0.45; AST, 58.5 IU/L, 30-386; electrographic seizures, 0%). CONCLUSIONS: Coma 12-24 h after onset, elevation of Cr levels within 2 h after onset, elevation of AST levels within 24 h after onset, and non-convulsive status epileptics (NCSE) in comatose patients were early predictors of severe AED. Patients in a coma after a febrile seizure should be checked for NCSE signs in EEG to terminate NCSE without delay.

A meta-analysis of third wave mindfulness-based cognitive behavioral therapies for older people.

OBJECTIVES: The aim of this study is to review the effectiveness of third wave mindfulness-based cognitive behavioral therapies (CBTs) for depressive or anxiety symptomatology in older adults across a wide range of physical and psychological conditions. METHODS: Electronic literature databases were searched for articles, and random-effects meta-analysis was conducted. RESULTS: Ten studies met the inclusion criteria, of which nine reported the efficacy of interventions on depressive symptoms and seven on anxiety symptoms. Effect-size estimates suggested that mindfulness-based CBT is moderately effective on depressive symptoms in older adults (g = 0.55). The results demonstrated a similar level of overall effect size for anxiety symptoms (g = 0.58). However, there was a large heterogeneity, and publication bias was evident in studies reporting outcomes on anxiety symptoms, and thus, this observed efficacy for late-life anxiety may not be robust. The quality of the included studies varied. Only one study used an active psychological control condition. There were a limited number of studies that used an intent-to-treat (last observation carried forward method) analysis and reported appropriate methods for clinical trials (e.g., treatment-integrity reporting). CONCLUSIONS: Third wave mindfulness-based CBT may be robust in particular for depressive symptoms in older adults. We recommend that future studies (i) conduct randomized controlled trials with intent-to-treat to compare mindfulness-based CBT with other types of psychotherapy in older people and (ii) improve study quality by using appropriate methods for checking treatment adherence, randomization, and blinding of assessors. Copyright © 2016 John Wiley & Sons, Ltd.

Psychosocial difficulties in adolescent and young adult survivors of childhood cancer.

BACKGROUND: With a large number of children surviving cancer worldwide, numerous investigations have assessed psychological and social adjustment among childhood cancer survivors. According to these studies, it is unclear whether childhood cancer survivors successfully adjust to daily life after being discharged from hospital, especially for adolescent and young adult survivors who have unique needs and concerns. The primary aim of this study was to identify the factors underlying psychosocial difficulties faced by adolescent and young adult survivors in their day-to-day lives after being discharged from hospital. METHODS: Semi-structured interviews were conducted. Twenty-five childhood cancer survivors were recruited from two regional cancer institutions in Japan. Content analysis was applied to the responses. RESULTS: Nineteen attributes were extracted and classified into four categories as follows: physical difficulties, interpersonal difficulties, behavioral difficulties, and uncertainty about the future. The attributes indicated by >50% of the participants were "I am worried about not feeling well," "I have difficulty continuing treatment in daily life," "I have difficulty moving my body," "I have to be absent from school or work because of illness," and "I am left behind academically." CONCLUSIONS: This study identified important factors of psychosocial day-to-day difficulties. Clinically, these results suggest that it is important to watch for these signs and to provide early support to survivors so that their daily life and development are not hindered by the treatment and its side-effects, and to offer long-term support focusing on individual patient characteristics such as sex, age, and cancer history.

Clinicians' perspectives on support for children with a parent who is diagnosed with breast cancer.

BACKGROUND: There are few data on clinicians' perspectives regarding support for children who have a parent who has been diagnosed with breast cancer. The purpose of this study was to survey the attitudes of physicians and nurses regarding the care of children who had a parent diagnosed with breast cancer. METHODS: A survey was mailed to 898 physicians and 135 nurses who were members of the Japanese Breast Cancer Society in 2009. They were asked to answer questions about their attitudes toward and current practice regarding care for children who had a parent with breast cancer. RESULTS: A total of 340 surveys (284 physicians and 56 nurses) were used in this analysis. The mean age of the respondents was 47.2 years, and their mean number of years of practice was 21.7 years. While 69.1 % of them reported that they felt it important for people in their roles to provide support for children, 84.4 % felt they could not provide sufficient support. The results also suggested that female gender in practitioners and nurses as opposed to doctor status seemed to be associated with preference for intervention, current practice of intervention, and recognition of difficulty to support. CONCLUSIONS: Physicians and nurses express a variety of opinions with regard to support for children with a parent who has breast cancer. It is important to cooperate with other specialists including physicians, nurses, and psychologists and allocate roles appropriately among them to improve outcomes for these children.

[Examination of the quality of life in the cancer patients under immunotherapy].

In recent years, quality of life(QOL) has received much attention as a subjective health outcome by which to measure and adopt patient treatment. Few studies, however, have examined how the QOL of cancer patients differs depending on treatment methods, or the effects of immunotherapy on patients' QOL. Thus, this study aimed to reveal: 1) the differences in QOL between patients treated with immunotherapy and other methods, and 2) whether the QOL of cancer patients treated with immunotherapy improves in accordance with the duration of immunotherapy. Thirty-nine cancer patients receiving immunotherapy who completed a Quality of Life Questionnaire for Cancer Patients Treated with Anti-Cancer Drugs(QOL-ACD) were the subjects for statistical analyses. The result indicated that patients treated with immunotherapy exhibited a higher physical conditions score than did patients receiving chemotherapy (p<0.01). Given that the side effects of immunotherapy are fewer than those of chemotherapy, the results suggested that the presence of side effects during cancer treatment plays an important role in determining patients' QOL.