Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.

Skeletal dysplasias are a clinically and genetically heterogeneous group of rare disorders. Studies from large cohorts are essential to provide insights into the disease epidemiology, phenotypic spectrum, and mutational profiles. Here we enumerate additional 248 Indians from 197 families with a skeletal dysplasia, following a similar study earlier.

Evaluating soil quality and carbon storage in Western Ghats Forests, Karnataka, India, for sustainable forest management.

Monitoring soil quality index (SQI) and soil organic carbon (SOC) stock status of the Western Ghats (WG) forests in India is crucial for providing vital ecosystem services alongside sustainable forest management practices. However, comprehensive profile data on SQI and SOC stock across different forest types under WG forests are limited. The study evaluated SQI and SOC stock under three forest types, i.

Classical Conditioning of Adult .

Olfactory classical conditioning paradigms have been extensively used since the early 1970s to apply genetic approaches to the study of memory in Over the intervening years, advances in genetics have largely changed the focus of studies from the role of single genes in memory to investigation of memory-relevant neuronal circuits. However, the original behavioral paradigms have remained largely unaltered, besides investigators making a few useful tweaks to the training and testing apparatus and modifications to the operating procedures. In this protocol, we provide the reader with a detailed description of the manufacture and assembly of a typical T-maze apparatus, where populations of adult flies can be trained and their odor memory tested later, by giving them a binary choice between the two trained odors.

Impact of cardiac rehabilitation exercise frequency on exercise capacity in patients with coronary artery disease: a retrospective study.

Cardiac rehabilitation (CR) significantly improves cardiovascular outcomes in patients with coronary artery disease (CAD). International guidelines vary in the minimum recommended frequency of supervised exercise from 1 to 3 sessions per week. This is the first study in the Middle East and North African regions assessing the impact of 2 versus 3 days/week of supervised exercise on peak exercise capacity in patients with CAD.

Exploring sperm cell rheotaxis in microfluidic channel: the role of flow and viscosity.

Rheotaxis is a fundamental mechanism of sperm cells that guides them in navigating towards the oocyte. The present study investigates the phenomenon of sperm rheotaxis in Newtonian and non-Newtonian fluid media, which for the first time explores a viscosity range equivalent to that of the oviductal fluid of the female reproductive tract in rectilinear microfluidic channels. Three parameters, the progressive velocity while performing rheotaxis, the radius of rotation during rheotaxis, and the percentage of rheotactic sperm cells in the bulk and near-wall regions of the microfluidic channel were measured.

Improving soil carbon estimates of Philippine mangroves using localized organic matter to organic carbon equations.

Background: Southeast Asian (SEA) mangroves are globally recognized as blue carbon hotspots. Methodologies that measure mangrove soil carbon stock (SCS) are either accurate but costly (i.e.

Thirdhand smoke exposure promotes gastric tumor development in mouse and human.

The pollution of indoor environments and the consequent health risks associated with thirdhand smoke (THS) are increasingly recognized in recent years. However, the carcinogenic potential of THS and its underlying mechanisms have yet to be thoroughly explored. In this study, we examined the effects of short-term THS exposure on the development of gastric cancer (GC) in vitro and in vivo.

Case report: Immune response characterization of a pseudoprogression in a PD-L1-negative, TMB-low, co-mutated metastatic NSCLC.

A patient with a PD-L1-negative, TMB-low, co-mutated metastatic non-small cell lung cancer (NSCLC) experienced a multisite radiological progression at 3 months after initiation of chemoimmunotherapy as first-line treatment for metastatic disease. After the radiological progression, while she was not undergoing treatment, the patient had spontaneous lesions shrinkage and further achieved a prolonged complete response. Genomic and transcriptomic data collected at baseline and at the time of pseudoprogression allowed us to biologically characterize this rare response pattern.

Prophylactic Central Compartment Dissection on the Long-Term Outcome of Advanced (N0-T3/T4) Papillary Thyroid Cancer.

Aim: To see whether prophylactic central compartment dissection is recommended for advanced papillary thyroid cancer or as part of selective neck node dissection. Central compartment dissection is a technically demanding surgical procedure and carries a higher incidence of complications. The present retrospective case-control study analysed the impact of prophylactic central compartment dissection on the long-term outcome of advanced (N0-T3/T4) papillary thyroid cancer.

Hard X-ray inverse Compton scattering at photon energy of 87.5 keV.

Production of hard X-ray via inverse Compton scattering at photon energies below 100 keV range aimed at potential applications in medicine and material research is reported. Experiments have been performed at the Brookhaven National Laboratory, Accelerator Test Facility, employing the counter collision of a 70 MeV, 0.3 nC electron beam with a near infra-red Nd: YAG laser (1064 nm wavelength) pulse containing ~ 100 mJ in a single shot basis.

Urinary anatalline and nicotelline cut-points to distinguish between exclusive and dual use of tobacco products.

Objective: This study measured anatalline and nicotelline, two minor tobacco alkaloids, to discriminate between exclusive smokeless tobacco (SLT) use, exclusive electronic nicotine delivery systems (ENDS) use, exclusive cigarette use, dual SLT and cigarette use, and dual ENDS and cigarette use.

Methods:  = 664 urine samples from participants in the Population Assessment of Tobacco and Health Study were analyzed for anatalline and nicotelline. Geometric means and 95% confidence intervals were calculated for biomarker levels and their ratios.

Activation of the helper NRC4 immune receptor forms a hexameric resistosome.

Innate immune responses to microbial pathogens are regulated by intracellular receptors known as nucleotide-binding leucine-rich repeat receptors (NLRs) in both the plant and animal kingdoms. Across plant innate immune systems, "helper" NLRs (hNLRs) work in coordination with "sensor" NLRs (sNLRs) to modulate disease resistance signaling pathways. Activation mechanisms of hNLRs based on structures are unknown.

Development of a new accurate lateral flow immunoassay for diagnosis of human leptospirosis.

Purpose: The current diagnostic methods for leptospirosis diagnosis are technically complex and expensive, with limited applicability to specialized laboratories. Furthermore, they lack diagnostic accuracy in the acute stage of the disease, which coincides with a period when antibiotics are highly effective. New simple and accurate tests are mandatory to decentralize and improve diagnosis.

Conditions Leading to Ketene Formation in Vaping Devices and Implications for Public Health.

The outbreak of e-cigarette or vaping use-associated lung injury (EVALI) in the United States in 2019 led to a total of 2807 hospitalizations with 68 deaths. While the exact causes of this vaping-related lung illness are still being debated, laboratory analyses of products from victims of EVALI have shown that vitamin E acetate (VEA), an additive in some tetrahydrocannabinol (THC)-containing products, is strongly linked to the EVALI outbreak. Because of its similar appearance and viscosity to pure THC oil, VEA was used as a diluent agent in cannabis oils in illicit markets.

Standardized Electric-Field-Resolved Molecular Fingerprinting.

Field-resolved infrared spectroscopy (FRS) of impulsively excited molecular vibrations can surpass the sensitivity of conventional time-integrating spectroscopies, owing to a temporal separation of the molecular signal from the noisy excitation. However, the resonant response carrying the molecular signal of interest depends on both the amplitude and phase of the excitation, which can vary over time and across different instruments. To date, this has compromised the accuracy with which FRS measurements could be compared, which is a crucial factor for practical applications.

Early pragmatic expectations in human infancy.

There is no room for pragmatic expectations about communicative interactions in core cognition. Spelke takes the combinatorial power of the human language faculty to overcome the limits of core cognition. The question is: Why should the combinatorial power of the human language faculty support infants' pragmatic expectations not merely about speech, but also about nonverbal communicative interactions?

Rehabilitation of Reconstructed Maxilla Using Denture-Guided Epithelial Regeneration in DCIA Flap: 10-Year Follow-Up.

This 10-year follow-up report describes the interdisciplinary comprehensive management of a patient with aneurysmal bone cyst of the maxilla in a 24-year-old patient. The treatment included resection and primary reconstruction with vascularized deep circumflex iliac artery-based composite free flap, implant placement, and peri-implant soft tissue management using denture-guided epithelial regeneration with interim dentures. Definitive management was done using implant-supported cast partial dentures, and the patient followed up for 10 years.

Peak Exercise Capacity and Angina Threshold Improvement after Cardiac Rehabilitation in a Patient with Stable Angina and Low Hemoglobin.

Cardiac rehabilitation (CR) is recommended for all patients with stable angina (SA) as an effective treatment. Hemoglobin (Hgb) levels predict exercise performance and may affect symptom threshold in SA patients. A multidisciplinary CR intervention was individually tailored for a 72-year-old patient with a diagnosis of SA, low Hgb (<10 g/dL), and typical chest pain at light-to-moderate exercise (<5 metabolic equivalent task), who was stratified as at high risk for cardiac events during exercise.

Multiple drug-delivery strategies to enhance the pharmacological and toxicological properties of Mefenamic acid.

Objective: To improve the biological and toxicological properties of Mefenamic acid (MA), the galactosylated prodrug of MA named MefeGAL was included in polymeric solid dispersions (PSs) composed of poly(glycerol adipate) (PGA) and Pluronic® F68 (MefeGAL-PS). MefeGAL-PS was compared with polymeric solid formulations of MA (MA-PS) or a mixture of equal ratio of MefeGAL/MA (Mix-PS).

Methods: The in vitro and in vivo pharmacological and toxicological profiles of PSs have been investigated.