Maternal heterozygosity for a mitochondrial trifunctional protein mutation as a cause for liver disease in pregnancy

Acute fatty liver of pregnancy (AFLP) and hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome are serious complications of pregnancy associated with significant maternal and perinatal morbidity and mortality. In previous reports, we have documented an association between AFLP and fetal deficiency of long-chain 3-hydroxyacyl coenzyme A dehydrogenase (LCHAD) [N. Engl. J. Med. 340 (1999) 1723-1731; JAMA 288 (2002) 2163-2166]. LCHAD activity resides in the alpha-subunit of the mitochondrial trifunctional protein (MTP), a complex protein that catalyzes beta-oxidation of long chain fatty acids. In all reported cases, the fetus carried a common alpha-subunit MTP mutation (G1528C, E474Q) on one or both alleles. However, the association between fetal LCHAD deficiency and the maternal HELLP syndrome has been limited. Here, we report a case history of a 27-year-old black female who underwent Cesarean section for placenta previa and fetal distress at 36 weeks gestation. The newborn was a healthy male child. Post-delivery, the mother developed severe HELLP syndrome with complications resulting in death of the patient. We used single strand conformation variance and nucleotide sequence analyses to screen DNA isolated from the mother and the newborn for mutations in the MTP alpha-subunit. The mother was heterozygous for a novel mutation (C1072A, Q322K) in exon 11 of the LCHAD domain of the MTP, while the fetal genotype was completely normal. We hypothesize that, in some cases, maternal heterozygosity for an MTP mutation maybe sufficient to cause the development of maternal liver disease without carrying an affected fetus. Combination of the metabolic stress of pregnancy and other environmental stresses may overwhelm the heterozygous mother's capacity for effective metabolism of long chain fatty acids, leading to an accumulation of potentially toxic fatty acid metabolites in the maternal circulation with subsequent damage to the maternal liver.     

Muscular fatigue during repeated isokinetic shoulder forward flexions in young females

Summary Peak torque, work, mean power and electromyographic (EMG) activity were recorded for each of 150 repeated isokinetic maximal shoulder flexions (45°–90°) in 23 healthy females. From the EMG signals of trapezius, deltoid, infraspinatus and biceps brachii the mean power frequency and the signal amplitude were determined in real time. The mechanical output showed a steep decrease during the first 40 contractions, followed by a plateau maintained until the end. In all muscles, except the biceps brachii, significant decreases in mean power frequency occurred during the first 40 contractions, showing a tendency to stabilize around the same absolute frequency value. Signal amplitude increased in the trapezius, the deltoid and the infraspinatus, but was constant in the biceps brachii. For some individuals rather high EMG activity was recorded in the muscles during the time the arm was supposed to be passively extended to the starting position, and this was found to be associated with lower strength and endurance levels. Longitudinal analyses showed that the mean power frequencies correlated better than the signal amplitudes with the three mechanical variables. The results suggest that the initial steep decrease in mechanical performance and mean power frequency is caused by fatiguing of type 2 motor units.     

Immunodetection methods for grass pollen allergens on western blots

A comparison is made of eight different methods to detect allergenic proteins in Western blots of rye-grass pollen extracts. Horseradish peroxidase-based enhanced chemiluminescence (ECL) provides a sensitive method for the detection of allergenic proteins. The method has been modified to use more dilute solutions of ECL substrate to reduce the background, can be applied to a standard nitrocellulose membrane, and used with Kodak X-ray film. The assays can be performed rapidly, replacing use of radiolabelled probes. Increased resolution is obtained. This makes the method suitable for detection of cDNA clones on plaque lifts, and for rapid and specific purification of proteins following immunodetection on nitrocellulose membranes.     

Design, testing, and clinical studies of a handheld polarized light camera

Polarized light imaging has been used to detect the borders of skin cancer and facilitate assessment of cancer boundaries. A design for an inexpensive handheld polarized camera is presented and clinical images acquired with this prototype are shown. The camera is built with two universal serial bus (USB) color video cameras, a polarizing beamsplitter cube, and a 4x objective lens. Illumination is provided by three white LEDs and a sheet polarizer. Horizontal and vertical linearly polarized reflected images are processed at 7 frames/s and a resulting polarized image is displayed on screen. We compare the performances of cheap USB camera and a 16-bit electronically cooled camera. Dark noise and image repeatability are compared. In both cases, the 16-bit camera outperforms the USB cameras. Despite these limitations, the results obtained with this USB prototype are very satisfactory. Examples of polarized images of lesions taken prior to surgery are presented.     

Racial Identity Clusters and Their Relation to Postpartum Maternal Functioning in Black Women

Maternal and Child Health Journal - Racial identity, which is the degree that individuals define themselves regarding their racial group membership, may influence the mental well-being of Black...     

Introduction: The Quest for Birth Equity and Justice—Now is the Time

Maternal and Child Health Journal -     

Effects of a Rice Bran Dietary Intervention on the Composition of the Intestinal Microbiota of Adults with a High Risk of Colorectal Cancer: A Pilot Randomised-Controlled Trial

Rice bran exhibits chemopreventive properties that may help to prevent colorectal cancer (CRC), and a short-term rice bran dietary intervention may promote intestinal health via modification of the intestinal microbiota. We conducted a pilot, double-blind, randomised placebo-controlled trial to assess the feasibility of implementing a long-term (24-week) rice bran dietary intervention in Chinese subjects with a high risk of CRC, and to examine its effects on the composition of their intestinal microbiota. Forty subjects were randomised into the intervention group (n = 19) or the control group (n = 20). The intervention participants consumed 30 g of rice bran over 24-h intervals for 24 weeks, whilst the control participants consumed 30 g of rice powder on the same schedule. High rates of retention (97.5%) and compliance (≥91.3%) were observed. No adverse effects were reported. The intervention significantly enhanced the intestinal abundance of Firmicutes and Lactobacillus, and tended to increase the Firmicutes/Bacteroidetes ratio and the intestinal abundance of Prevotella_9 and the health-promoting Lactobacillales and Bifidobacteria, but had no effect on bacterial diversity. Overall, a 24-week rice bran dietary intervention was feasible, and may increase intestinal health by inducing health-promoting modification of the intestinal microbiota. Further larger-scale studies involving a longer intervention duration and multiple follow-up outcome assessments are recommended.     

Social Media Content of Idiopathic Pulmonary Fibrosis Groups and Pages on Facebook: Cross-sectional Analysis

BackgroundPatients use Facebook as a resource for medical information. We analyzed posts on idiopathic pulmonary fibrosis (IPF)-related Facebook groups and pages for the presence of guideline content, user engagement, and usefulness.ObjectiveThe objective of this study was to describe and analyze posts from Facebook groups and pages that primarily focus on IPF-related content.MethodsCross-sectional analysis was performed on a single date, identifying Facebook groups and pages resulting from separately searching “IPF” and “idiopathic pulmonary fibrosis.” For inclusion, groups and pages needed to meet either search term and be in English, publicly available, and relevant to IPF. Every 10th post was assessed for general characteristics, source, focus, and user engagement metrics. Posts were analyzed for presence of IPF guideline content, useful scientific information (eg, scientific publications), useful support information (eg, information about support groups), and potentially harmful information.ResultsEligibility criteria were met by 12 groups and 27 pages, leading to analysis of 523 posts. Of these, 42% contained guideline content, 24% provided useful support, 20% provided useful scientific information, and 5% contained potentially harmful information. The most common post source was nonmedical users (85%). Posts most frequently focused on IPF-related news (29%). Posts containing any guideline content had fewer likes or comments and a higher likelihood of containing potentially harmful content. Posts containing useful supportive information had more likes, shares, and comments.ConclusionsFacebook contains useful information about IPF, but posts with misinformation and less guideline content have higher user engagement, making them more visible. Identifying ways to help patients with IPF discriminate between useful and harmful information on Facebook and other social media platforms is an important task for health care professionals.     

Rapid,Full-Scale Change to Virtual PCIT During the COVID-19 Pandemic: Implementation and Clinical Implications

Health agencies call for the immediate mobilization of existing interventions in response to numerous child and family mental health concerns that have arisen as result of the COVID-19 pandemic. Answering this call, this pilot study describes the rapid, full-scale change from a primarily clinic-based Parent–Child Interaction Therapy (PCIT) model to a virtual service model (i.e., I-PCIT) in an academic and community-based program in Miami, Florida. First, we describe the virtual service training model our program developed and its implementation with 17 therapists (M_Age?=?32.35, 88.2% female, 47.1% Hispanic) to enable our clinic to shift from providing virtual services to a small portion of the families served (29.1%) to all of the families served. Second, we examine the effect of I-PCIT on child and caregiver outcomes during the 2-month stay-at-home period between March 16, 2020, and May 16, 2020, in 86 families (M_ChildAge?=?4.75, 71% Hispanic). Due to the rapid nature of the current study, all active participants were transferred to virtual services, and therefore there was no comparison or control group, and outcomes represent the most recently available scores and not treatment completion. Results reveal that I-PCIT reduced child externalizing and internalizing problems and caregiver stress, and increased parenting skills and child compliance with medium to large effects even in the midst of the COVID-19 pandemic. Finally, the study examined components of our virtual service training model associated with the greatest improvements in child and caregiver outcomes. Preliminary findings revealed that locally and collaboratively developed strategies (e.g., online communities of practice, training videos and guides) had the strongest association with child and caregiver outcomes. Implications for virtual service delivery, implementation, and practice in the midst of the COVID-19 pandemic are discussed.