Chylomicron retention disease in a 2-year-old girl with a novel deletion in the SAR1b gene: A case report and literature review

Chylomicron retention disease (CMRD) is a rare disorder of lipid absorption, and its prevalence is <1/million. It is an autosomal recessive disorder with a genetic mutation in the SAR1B gene. We report a case of a girl who had the typical symptoms in the early infancy, in whom CMRD was strongly suspected clinically and due to the endoscopy findings. Unfortunately, the treatment was delayed, waiting for genetic confirmation, which was not available in her country. When we first saw the patient at the age of 2 years, she had severe failure to thrive. She recovered very fast with a trial of a fat-restricted diet and medium chain fatty acid supplementation. The working diagnosis of CMRD was later confirmed genetically. We conclude that a therapeutic trial is essential in this type of disease once the diagnosis is suspected to avoid further damage to the patient. This applies especially to resource-restricted environments

Two cases of carbonic anhydrase va deficiency—an ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome

The combination of neonatal hyperammonemia, lactic acidosis, ketonuria, and hypoglycemia is pathognomonic for carbonic anhydrase VA (CA-VA) deficiency. We present two cases of this rare inborn error of metabolism. Both newborns with South Asian ancestry presented with a metabolic decompensation characterized by hyperammonemia, lactic acidosis and ketonuria; one also had hypoglycemia. Standard metabolic investigations (plasma amino acids, acylcarnitine profile, and urine organic acids) were not indicative of a specific organic aciduria or fatty acid oxidation defect but had some overlapping features with a urea cycle disorder (elevated glutamine, orotic acid, and low argi-nine). Hyperammonemia was treated initially with nitrogen scavenger therapy and carglumic acid. One patient required hemodialysis. Both have had a favorable long-term prognosis after their initial metabolic decompensation. Genetic testing confirmed the diagnosis of carbonic anhydrase VA (CA-VA) deficiency due to biallelic pathogenic variants in CA5A. These cases are in line with 15 cases previously described in the literature, making the phenotypic presentation pathognomonic for this ultrarare (potentially underdiagnosed) inborn error of metabolism with a good prognosis

CA72-4 as a Promising Prognostic and Diagnostic Biomarker in Iraqi Patients with Colorectal Cancer

Colorectal cancer (CRC), the second most fatal cancer and the 3rd most common cancer is expected to cause 0.9 million deaths globally in 2025. Carcinoembryonic antigen (CEA) is currently used in the follow-up of patients with colorectal cancer, and in this study, we are trying to find a better marker than CEA in following up on patients' health and knowing the effectiveness of the treatment used and as a diagnostic marker for colorectal cancer. To determine the significance of Cancer antigen 72-4 (CA72-4) as a prognosis predictor in patients with colorectal cancer, compare its prognostic validity to the CEA biomarker. this case-control study includes (150) participants, 100 patients (59 males and 41 females), and 50 healthy controls (26 males, 24 females). Blood samples were collected from all participants to measure the serum concentrations of CA72-4 and CEA using an enzyme-linked immunosorbent assay (ELISA). Between November 2020 and February 2021 in Baghdad, Iraq, this investigation was conducted at the oncology teaching hospital's gastrointestinal consulting clinic. There was a strong positive relation between CA242 and CEA (R = 0.953, p <0.001) and participants with colorectal cancer had considerably greater levels of CA72-4 than healthy controls (p <0.001). AUC was 0.944, sensitivity was 86%, specificity was 94%, and the cutoff value was 50 U/ml for the CA72-4. while AUC was 0.919, sensitivity was 91%, specificity was 80%, and the cutoff value was 5 ng/ml for the CEA.CA72-4 can serve as a potential prognostic and diagnostic biomarker for colorectal cancer

Battle of the Backbones: A Large-Scale Comparison of Pretrained Models across Computer Vision Tasks

Neural network based computer vision systems are typically built on a backbone, a pretrained or randomly initialized feature extractor. Several years ago, the default option was an ImageNet-trained convolutional neural network. However, the recent past has seen the emergence of countless backbones pretrained using various algorithms and datasets. While this abundance of choice has led to performance increases for a range of systems, it is difficult for practitioners to make informed decisions about which backbone to choose. Battle of the Backbones (BoB) makes this choice easier by benchmarking a diverse suite of pretrained models, including vision-language models, those trained via self-supervised learning, and the Stable Diffusion backbone, across a diverse set of computer vision tasks ranging from classification to object detection to OOD generalization and more. Furthermore, BoB sheds light on promising directions for the research community to advance computer vision by illuminating strengths and weakness of existing approaches through a comprehensive analysis conducted on more than 1500 training runs. While vision transformers (ViTs) and self-supervised learning (SSL) are increasingly popular, we find that convolutional neural networks pretrained in a supervised fashion on large training sets still perform best on most tasks among the models we consider. Moreover, in apples-to-apples comparisons on the same architectures and similarly sized pretraining datasets, we find that SSL backbones are highly competitive, indicating that future works should perform SSL pretraining with advanced architectures and larger pretraining datasets. We release the raw results of our experiments along with code that allows researchers to put their own backbones through the gauntlet here: https://github.com/hsouri/Battle-of-the-BackbonesComment: Accepted to NeurIPS 202

Nurse academics' experience of contra-power harassment from under-graduate nursing students in Australia.

There is growing concern around inappropriate behaviour being perpetrated by under-graduate nursing students towards nursing academics. Coined contra-power harassment, is defined as the harassment of individuals in formal positions of power and authority by those that are not. The type of harassment behaviours reported include: verbal and physical violence, character assassination through social media, stalking and sexually motivated behaviours. The most often cited reasons for the escalation in these behaviours are seen with course progression and the awarding of grades. AIM: The aim of this study is to better understand the extent to which nursing academics experience contra-power harassment from under-graduate nursing students. METHOD: A convenience sample of nursing academics were in Australia were contacted and provided with an introductory letter, a participant information sheet and a link to an online questionnaire. A 41-item Likert scale (Strongly agree-strongly disagree) was used to elicit responses to statements on academics' experiences of and the contributing factors associated with contra-power harassment. RESULTS: The main contributing factor identified from this study was seen as the consumerism of higher education; in particular paying for a degree gave a sense of entitlement with academics experiencing the highest levels of student harassment around grades. CONCLUSIONS: Contra-power harassment is becoming common place in higher education especially in nursing education. The competitive nature of obtaining employment post-university has meant that some nursing student's behaviours are becoming increasingly uncivil, challenging and unprofessional

Family planning in conflict: results of cross-sectional baseline surveys in three African countries

Background: Despite the serious consequences of conflict for reproductive health, populations affected by conflict and its aftermath face tremendous barriers to accessing reproductive health services, due to insecurity, inadequate numbers of trained personnel and lack of supplies. Family planning is often particularly neglected. Methods: In six conflict-affected areas in Sudan, northern Uganda and the Democratic Republic of Congo, household surveys of married or in-union women of reproductive age were conducted to determine baseline measures of family planning knowledge, attitudes and behaviors regarding contraception. Health facility assessments were carried out to assess baseline measures of family planning services availability. Data were double-entered into CSPro 3.2 and exported to SAS 9.2, which was used to calculate descriptive statistics. The studies' purposes were to guide program activities and to serve as a baseline against which program accomplishments could be measured. Results: Knowledge of modern contraceptive methods was low relative to other sub-Saharan African countries, and use of modern methods was under 4% in four sites; in two sites with prior family planning services it was 12% and 16.2%. From 30% to 40% of women reported they did not want a child within two years, however, and an additional 12% to 35% wanted no additional children, suggesting a clear need for family planning services. The health facilities assessment showed that at most only one-third of the facilities mandated to provide family planning had the necessary staff, equipment and supplies to do so adequately; in some areas, none of the facilities were prepared to offer such services. Conclusions: Family planning services are desired by women living in crisis situations when offered in a manner appropriate to their needs, yet services are rarely adequate to meet these needs. Refugee and internally displaced women must be included in national and donors' plans to improve family planning in Africa

Exploring the effectiveness of the Tree of Life in promoting the therapeutic growth of refugee women living with HIV

The current study aimed to understand the experiences of refugee women living with HIV as they participated in the Tree of Life (ToL), a group-based narrative technique. A qualitative case study methodology was used. Five African refugee women took part in the study. The ToL consisted of seven two-hourly sessions conducted on weekly basis. Further, participants completed a feedback form after each session, and they were individually interviewed on completion of the ToL. The researchers kept detailed field notes. The data indicated that participants were motivated to attend the intervention in order to overcome their psychological distress, isolation and negative thoughts associated with their situation. Participants found the intervention beneficial. In a safe and supportive setting, and through the art making process, they were able to reflect on their painful past and current issues associated with their migratory stressors and with living with HIV. They identified personal strengths and qualities that enabled them to cope and build their resilience. The art making process and the discussion of the tree empowered them to re-author their life narratives. Finally, they related to each other and they developed a sense of connectedness. The findings indicate the Tree of Life as a promising technique for use with refugees living with HIV. Implications and future directions are discussed

Global Retinoblastoma Presentation and Analysis by National Income Level.

Importance: Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child's life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale. Objectives: To report the retinoblastoma stage at diagnosis in patients across the world during a single year, to investigate associations between clinical variables and national income level, and to investigate risk factors for advanced disease at diagnosis. Design, Setting, and Participants: A total of 278 retinoblastoma treatment centers were recruited from June 2017 through December 2018 to participate in a cross-sectional analysis of treatment-naive patients with retinoblastoma who were diagnosed in 2017. Main Outcomes and Measures: Age at presentation, proportion of familial history of retinoblastoma, and tumor stage and metastasis. Results: The cohort included 4351 new patients from 153 countries; the median age at diagnosis was 30.5 (interquartile range, 18.3-45.9) months, and 1976 patients (45.4%) were female. Most patients (n = 3685 [84.7%]) were from low- and middle-income countries (LMICs). Globally, the most common indication for referral was leukocoria (n = 2638 [62.8%]), followed by strabismus (n = 429 [10.2%]) and proptosis (n = 309 [7.4%]). Patients from high-income countries (HICs) were diagnosed at a median age of 14.1 months, with 656 of 666 (98.5%) patients having intraocular retinoblastoma and 2 (0.3%) having metastasis. Patients from low-income countries were diagnosed at a median age of 30.5 months, with 256 of 521 (49.1%) having extraocular retinoblastoma and 94 of 498 (18.9%) having metastasis. Lower national income level was associated with older presentation age, higher proportion of locally advanced disease and distant metastasis, and smaller proportion of familial history of retinoblastoma. Advanced disease at diagnosis was more common in LMICs even after adjusting for age (odds ratio for low-income countries vs upper-middle-income countries and HICs, 17.92 [95% CI, 12.94-24.80], and for lower-middle-income countries vs upper-middle-income countries and HICs, 5.74 [95% CI, 4.30-7.68]). Conclusions and Relevance: This study is estimated to have included more than half of all new retinoblastoma cases worldwide in 2017. Children from LMICs, where the main global retinoblastoma burden lies, presented at an older age with more advanced disease and demonstrated a smaller proportion of familial history of retinoblastoma, likely because many do not reach a childbearing age. Given that retinoblastoma is curable, these data are concerning and mandate intervention at national and international levels. Further studies are needed to investigate factors, other than age at presentation, that may be associated with advanced disease in LMICs

Robust estimation of bacterial cell count from optical density

Optical density (OD) is widely used to estimate the density of cells in liquid culture, but cannot be compared between instruments without a standardized calibration protocol and is challenging to relate to actual cell count. We address this with an interlaboratory study comparing three simple, low-cost, and highly accessible OD calibration protocols across 244 laboratories, applied to eight strains of constitutive GFP-expressing E. coli. Based on our results, we recommend calibrating OD to estimated cell count using serial dilution of silica microspheres, which produces highly precise calibration (95.5% of residuals &lt;1.2-fold), is easily assessed for quality control, also assesses instrument effective linear range, and can be combined with fluorescence calibration to obtain units of Molecules of Equivalent Fluorescein (MEFL) per cell, allowing direct comparison and data fusion with flow cytometry measurements: in our study, fluorescence per cell measurements showed only a 1.07-fold mean difference between plate reader and flow cytometry data