Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder causing the degeneration of motor neurons in the spinal cord. Recent studies suggest greater effectiveness of treatment in the presymptomatic stage. This systematic review synthesises findings from 37 studies (and 3 overviews) of newborn screening for SMA published up to November 2023 across 17 countries to understand the methodologies used; test accuracy performance; and timing, logistics and feasibility of screening. All studies screened for the homozygous deletion of SMN1 exon 7. Most (28 studies) used RT-PCR as the initial test on dried blood spots (DBSs), while nine studies also reported second-tier tests on DBSs for screen-positive cases. Babies testing positive on DBSs were referred for confirmatory testing via a range of methods. Observed SMA birth prevalence ranged from 1 in 4000 to 1 in 20,000. Most studies reported no false-negative or false-positive cases (therefore had a sensitivity and specificity of 100%). Five studies reported either one or two false-negative cases each (total of six cases; three compound heterozygotes and three due to system errors), although some false-negatives may have been missed due to lack of follow-up of negative results. Eleven studies reported false-positive cases, some being heterozygous carriers or potentially related to heparin use. Time to testing and treatment varied between studies. In conclusion, several countries have implemented newborn screening for SMA in the last 5 years using a variety of methods. Implementation considerations include processes for timely initial and confirmatory testing, partnerships between screening and neuromuscular centres, and timely treatment initiation.

This review paper provides an overview of the risk factors and laboratory testing for red blood cell (RBC) alloimmunization in pregnancy. RBC alloimmunization is a significant medical issue that can cause haemolytic disease of the fetus and newborn (HDFN), leading to neonatal morbidity and mortality. Current HDFN prophylaxis targets only Rhesus D (RhD) alloimmunization, with no effective measures to prevent alloimmunization to other RBC antigen groups. Several factors can increase the risk of developing RBC alloimmunization during pregnancy, including fetomaternal haemorrhage, RBC and maternal genetic status, and previous transfusions. Identifying these risk factors is essential to execute the appropriate management strategies to minimize the risk of HDFN. The review also discusses the laboratory methods and overview of pregnancy management. The paper highlights the importance of identifying and managing the risk factors for RBC alloimmunization in pregnancy to minimize the risk of HDFN and improve neonatal outcomes.

BACKGROUND: Natural products have optical activities with unusual structural characteristics or specific stereoselectivity, mostly including spiro-ring systems or quaternary carbon atoms. Expensive and time-consuming methods for natural product purification, especially natural products with bioactive properties, have encouraged chemists to synthesize those compounds in laboratories. Due to their significant role in drug discovery and chemical biology, natural products have become a major area of synthetic organic chemistry. Most medicinal ingredients available today are healing agents derived from natural resources, such as plants, herbs, and other natural products.
METHODS: Materials were compiled using the three databases of ScienceDirect, PubMed, and Google Scholar. For this study, only English-language publications have been evaluated based on their titles, abstracts, and full texts.
RESULTS: Developing bioactive compounds and drugs from natural products has remained challenging despite recent advances. A major challenge is not whether a target can be synthesized but how to do so efficiently and practically. Nature has the ability to create molecules in a delicate but effective manner. A convenient method is to imitate the biogenesis of natural products from microbes, plants, or animals for synthesizing natural products. Inspired by the mechanisms occurring in the nature, synthetic strategies facilitate laboratory synthesis of natural compounds with complicated structures.
CONCLUSIONS: In this review, we have elaborated on the recent syntheses of natural products conducted since 2008 and provided an updated outline of this area of research (Covering 2008-2022) using bioinspired methods, including Diels-Alder dimerization, photocycloaddition, cyclization, and oxidative and radical reactions, which will provide an easy access to precursors for biomimetic reactions. This study presents a unified method for synthesizing bioactive skeletal products.

Diagnosis of tuberculosis, and especially the diagnosis of extrapulmonary tuberculosis, still faces challenges in clinical practice. There are several reasons for this. Methods based on the detection of Mycobacterium tuberculosis (Mtb) are insufficiently sensitive, methods based on the detection of Mtb-specific immune responses cannot always differentiate active disease from latent infection, and some of the serological markers of infection with Mtb are insufficiently specific to differentiate tuberculosis from other inflammatory diseases. New tools based on technologies such as flow cytometry, mass spectrometry, high-throughput sequencing, and artificial intelligence have the potential to solve this dilemma. The aim of this review was to provide an updated overview of current efforts to optimize classical diagnostic methods, as well as new molecular and other methodologies, for accurate diagnosis of patients with Mtb infection.

Sickle cell disease (SCD) and other hemoglobinopathies are a major health concern with a high burden of disease worldwide. Since the implementation of newborn screening (NBS) for SCD and other hemoglobinopathies in several regions of the world, technical progress of laboratory methods was achieved. This short review aims to summarize the current practice of classical laboratory methods for the detection of SCD and other hemoglobinopathies. This includes the newborn screening technologies of high-performance liquid chromatography (HPLC), capillary electrophoresis (CE), and isoelectric focusing (IEF).

The prevalence of construction and demolition (C&D) waste and the concurrent demand for construction aggregate presents the opportunity to recycle C&D waste materials as substitutes for virgin aggregate. Commonly, recycled concrete aggregate (RCA) is used as base course in pavement construction. Environmentally responsible applications of RCA must consider the high pH leachate and trace element leaching risks reported in the literature. This review presents the methodology, results, and limitations of existing laboratory and field investigations of RCA leachate chemistry. Long-term highway field studies of RCA leachate illustrate that an initially high leachate pH approaches neutral within approximately one to two years of construction. Conversely, laboratory investigations of RCA leachate pH using batch reactor leaching tests and column leaching tests measure consistently high leachate pH (pH > 10). The discrepancies between field and laboratory measurements of RCA leachate pH suggest that the current laboratory methodology inadequately describes leachate conditions in the field. The authors recommend that future laboratory investigations consider intermittent wetting and drying cycles, eliminate particle abrasion, employ relevant contact times, and consider additional environmental processes that reduce leachate pH such as soil acidity and carbonation.

This is a comparative review between using dried blood spot (DBS) and mini-tube (MT) HIV sampling kits as part of an online sexually transmitted infection (STI) postal testing service. England has recently seen increases in internet-based and postal (eHealth) STI services. Expanding accessibility and testing for patients, cost implications and narrowing the HIV undiagnosed margin are drivers for this.
In 2017, data were reviewed from an online postal STI kit requesting service at a time of transitioning from MT to DBS. We compared the STI postal kit and HIV blood sample return rates, and the successful processing/analysis rates of the DBS and MT kits. Descriptive statistics were applied to participant characteristics, with Pearson\'s χ2 or Fisher exact test used to demonstrate statistical differences. We also describe and calculate a \'request-to-result ratio\' (RRR) for both kit types. The RRR is defined as the number of online kit requests required to produce one successfully analysed result.
550 STI postal kit requests from a North-West of England region were reviewed from 13 June 2017 to 22 September 2017 (275 MT, 275 DBS). Baseline characteristics between the two groups were comparable (63% woman, 90% white British and 86% heterosexual with a median age of 26 years). The successful processing rate for the DBS was 98.8% c.f. 55.7% for the MT (p<0.001). The RRR for MT was 2.96, c.f. 1.70 for DBS. There was a 5.4% false positive HIV rate in the MT c.f. none in the DBS.
This comparative analysis suggests that in this community setting, the use of postal HIV DBS kits resulted in a significantly improved RRR compared with MT. The biggest factor was the large number of MT samples not analysed due to inadequate blood volumes. The unexpected level of false positive results in the MT samples needs confirming in larger studies.

Bacterial infection after hardware implantation in orthopedic surgery is a devastating issue as it often necessitates increased hospital costs and stays, multiple revision surgeries, and prolonged use of antibiotics. Because of the nature of hardware implantation into the body, these infections are commonly in the form of attached biofilms. The current literature on a range of methodologies to study clinically explanted infected orthopedic hardware, with potential biofilm, in the laboratory setting is limited. General methods include traditional and advanced culturing techniques, microscopy imaging techniques, and techniques that manipulate genetic material. The future of diagnostic techniques for infected implants, innovative hardware design, and treatment solutions for patients all depend on the successful evaluation and characterization of clinical samples in the laboratory setting. This review provides an overview of current methods to study biofilms associated with orthopedic infections and insight into future directions in the field.

The CD34 antigen is expressed on haemopoietic stem and progenitor cells. A number of strategies have been developed which allow the selection and purification of CD34(+) cells from bone marrow, peripheral blood, and umbilical cord blood. Transplantation studies have amply demonstrated that rapid and durable engraftment can be achieved following reinfusion of selected CD34(+) cells. More recently, techniques have become available which can produce extensive proliferation of haemopoietic progenitor cells in ex vivo culture systems. The most popular method involves a simple liquid suspension culture system supplemented with a range of cytokines. The degree of expansion and, indeed, the types of cells produced can be significantly influenced by culture conditions like the choice of cytokines, duration of culture, starting cell concentration, and type of culture vessel. Despite many laboratory investigations, there have been few clinical trials using ex vivo expanded cells. Although it has been shown that infusion of ex vivo cultured cells is well tolerated with no associated toxicity, there is no evidence to date that these culture systems sustain sufficient numbers of haemopoietic long-term repopulating cells to secure durable engraftment following myeloablative therapy. Clearly, the major goal is to define culture conditions which will produce true stem cell expansion.

BACKGROUND: Laboratory paradigms are commonly used to study human energy intake. However, the extent to which participants believe their eating behavior is being measured may affect energy intake and is a methodologic factor that has received little consideration.
OBJECTIVE: Our main objective was to examine available evidence for the effect that heightened awareness of observation has on energy intake in a laboratory setting.
METHODS: We systematically reviewed laboratory studies that allowed for experimental examination of the effect that heightened awareness of observation has on energy intake. From these experimental studies we combined effect estimates using inverse variance meta-analysis, calculating the standardized mean difference (SMD) in energy intake between heightened-awareness and control conditions and qualitatively synthesized potential moderators of this effect.
RESULTS: Nine studies, providing 22 comparisons, were eligible for inclusion. These studies largely sampled young women and examined the energy intake of energy-dense snack foods. Evidence indicated that heightened awareness of observation was associated with reduced energy intake when compared with the control condition (random-effects SMD: 0.45; 95% CI: 0.25, 0.66; P < 0.0001). We found little evidence that the type of experimental manipulation used to heighten awareness moderated the overall effect.
CONCLUSIONS: The available evidence to date suggests that heightened awareness of observation reduces energy intake in a laboratory setting. These findings suggest that laboratory studies should attempt to minimize the degree to which participants are aware that their eating behavior is being measured.