Xpert MTB/RIF assay in the diagnosis of pulmonary tuberculosis in children in tertiary care setting in South India.

Xpert MTB/RIF is recommended for the diagnosis of tuberculosis (TB) in children. We determined the performance of Xpert MTB/RIF in the diagnosis of pulmonary TB in children. The characteristics of children influencing Xpert MTB/RIF positivity were explored.

IAA-producing plant growth promoting rhizobacteria from enhance cutting propagation efficiency and Arabidopsis biomass.

Climate-induced drought impacts plant growth and development. Recurring droughts increase the demand for water for food production and landscaping. Native plants in the Intermountain West region of the US are of keen interest in low water use landscaping as they are acclimatized to dry and cold environments.

Shwachman-Diamond syndrome mimicking mitochondrial hepatopathy.

Shwachman-Diamond syndrome (SDS) is a genetic disorder caused by mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene. The syndrome is characterized by multiorgan dysfunction primarily involving the bone marrow and exocrine pancreas. Frequently overlooked is the hepatic dysfunction seen in early childhood which tends to improve by adulthood.

A Case of -Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection.

-deficient hyperphenylalaninemia is a recently described inborn error of metabolism associated with hyperphenylalaninemia, neurotransmitter deficiency, and developmental delay caused by biallelic pathogenic variants of the gene. The loss of the -encoded chaperone results in the destabilization of the biopterin-dependent aromatic amino acid hydroxylases, resulting in deficiencies in dopamine, norepinephrine, and serotonin. We present the case of a patient who screened positive for hyperphenylalaninemia on newborn screening and was discovered to be homozygous for a likely pathogenic variant of .

ScreenPlus: A comprehensive, multi-disorder newborn screening program.

The increasing availability of novel therapies highlights the importance of screening newborns for rare genetic disorders so that they may benefit from early therapy, when it is most likely to be effective. Pilot newborn screening (NBS) studies are a way to gather objective evidence about the feasibility and utility of screening, the accuracy of screening assays, and the incidence of disease. They are also an optimal way to evaluate the complex ethical, legal and social implications (ELSI) that accompany NBS expansion for disorders.

Insights into the evolution of mutations in SARS-CoV-2 non-spike proteins.

The COVID-19 pandemic has been driven by the emergence of SARS-CoV-2 variants with mutations across all the viral proteins. Although mutations in the spike protein have received significant attention, understanding the prevalence and potential impact of mutations in other viral proteins is essential for comprehending the evolution of SARS-CoV-2. Here, we conducted a comprehensive analysis of approximately 14 million sequences of SARS-CoV-2 deposited in the GISAID database until December 2022 to identify prevalent mutations in the non-spike proteins at the global and country levels.

PPA2 Deficiency in 2 Sisters: A Rare Cause of Sudden Cardiac Death.

Inorganic pyrophosphatase 2 (PPA2) deficiency is a genetic cause of sudden cardiac death, often triggered by viral infection or alcohol consumption. Literature on management is limited because most cases are diagnosed post mortem. We report lethal and nonlethal cardiac presentations of PPA2 deficiency in 2 adolescent sisters that resulted from a novel pathogenic variant.

Cochlear implantation in children with congenital inner ear malformations - Our experience.

Objective: To share our experience of the surgical challenges faced in cochlear implanted patients with inner ear malformation and to assess the auditory and speech perception outcomes.

Material And Method: Clinical records of 502 cochlear implant procedures were reviewed and data of 122 patients who had inner ear malformations were enrolled in the study. Their auditory and speech performances were evaluated post implantation for 3 years.

Recessive pathogenic variants in cause combined oxidative phosphorylation deficiency.

Malonyl-CoA-acyl carrier protein transacylase (MCAT) is an enzyme involved in mitochondrial fatty acid synthesis (mtFAS) and catalyzes the transfer of the malonyl moiety of malonyl-CoA to the mitochondrial acyl carrier protein (ACP). Previously, we showed that loss-of-function of mtFAS genes, including , is associated with severe loss of electron transport chain (ETC) complexes in mouse immortalized skeletal myoblasts (Nowinski et al., 2020).

Exploration of the rhizosphere microbiome of native plant - an excellent resource of plant growth-promoting bacteria.

Continuous demand for an increase in food production due to climate change and a steady rise in world population requires stress-resilient, sustainable agriculture. Overuse of chemical fertilizers and monoculture farming to achieve this goal deteriorated soil health and negatively affected its microbiome. The rhizosphere microbiome of a plant plays a significant role in its growth and development and promotes the plant's overall health through nutrient uptake/availability, stress tolerance, and biocontrol activity.

Phenotypic continuum of NFU1-related disorders.

Bi-allelic variants in Iron-Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early-onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra-rare bi-allelic NFU1 missense variants associated with a spectrum of early-onset pure to complex hereditary spastic paraplegia (HSP) phenotype with a longer survival (16/19) on one end and neurodevelopmental delay with severe hypotonia (3/19) on the other. Reversible or irreversible neurological decompensation after a febrile illness was common in the cohort, and there were invariable white matter abnormalities on neuroimaging.

Modulation of reactive oxygen species in cancers: recent advances.

Oxidation-reduction reactions played a significant role in the chemical evolution of life forms on oxygenated earth. Cellular respiration is dependent on such redox reactions, and any imbalance leads to the accumulation of reactive oxygen species (ROS), resulting in both chronic and acute illnesses. According to the International Agency for Research on Cancer (IARC), by 2040, the global burden of new cancer cases is expected to be around 27.

Comparison of Outcomes in Unilateral and Bilateral Pediatric Cochlear Implants: Our Experience.

The aim of our study is to compare the outcomes in unilateral and bilateral cochlear implants in pediatric age and also between simultaneous and sequential cochlear implant surgery. This retrospective study was carried out with 83 children aged between 12 months to 2.5 years which included 41 children with bilateral Cochlear implants and 42 with unilateral implants.

Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).

Objective: To harmonize terminology in mitochondrial medicine, we propose revised clinical criteria for primary mitochondrial syndromes.

Methods: The North American Mitochondrial Disease Consortium (NAMDC) established a Diagnostic Criteria Committee comprised of members with diverse expertise. It included clinicians, researchers, diagnostic laboratory directors, statisticians, and data managers.

Can We Better Differentiate Type A Dissections: Evaluating the Role of Aortic Ratios.

Objectives: Type A aortic dissection (ATAAD) is hypothesised as a progression of aneurysmal dilation, but 60% of patients in the International Registry of Acute Aortic Dissection (iRAD) registry had a maximum aortic diameter (MAD)<55 mm. We aim to demonstrate that size ratios and aortic wall stress, assessed using a simplified markers, are unique to aortic patients who have had adverse events (ATAAD) compared to those who have not (thoracic aortic aneurysm [TAA]).

Methods: A retrospective cohort analysis of patients who underwent aortic intervention at Waikato Hospital, New Zealand between 2015-2020, comparing dissection (ATAAD) to TAA patients.

In vitro growth inhibitory effect of selected 18β-glycyrrhetinic acid esters on Theileriaannulata.

Glycyrrhetinic acid (GA) is one of the important Pentacyclic Triterpenoids (PT) found in the roots of licorice. This study aimed to evaluate the in vitro growth inhibitory effect of 18β-GA (18β-Glycyrrhetinic acid) and C-30 esters against Theileria annulata, the causative agent of Tropical Bovine Theileriosis. C-30 esters of 18β-GA were synthesized and their structures were elucidated using spectroscopy.

Plasma chemokines as immune biomarkers for diagnosis of pediatric tuberculosis.

Background: Diagnosing tuberculosis (TB) in children is challenging due to paucibacillary disease, and lack of ability for microbiologic confirmation. Hence, we measured the plasma chemokines as biomarkers for diagnosis of pediatric tuberculosis.

Methods: We conducted a prospective case control study using children with confirmed, unconfirmed and unlikely TB.

Cardiac surgery simulation: a low-cost feasible option in an Australasian setting.

Background: Simulation training is a useful adjunct to surgical training and education (SET) in Cardiothoracic Surgery yet training opportunities outside the Royal Australasian College of Surgery or industry-sponsored workshops are rare due to high cost and limited training faculty, time, assessment tools or structured curricula. We describe our experience in establishing a low-cost cardiac simulation programme.

Methods: We created low-cost models using hospital facilities, hardware stores, abattoirs and donations from industry.

Discovery and Validation of a Three-Cytokine Plasma Signature as a Biomarker for Diagnosis of Pediatric Tuberculosis.

Pediatric TB poses challenge in diagnosis due to the paucibacillary nature of the disease. We conducted a prospective diagnostic study to identify immune biomarkers of pediatric TB and controls (discovery cohort) and obtained a separate "validation" cohort of confirmed cases of pediatric TB and controls. Multiplex ELISA was performed to examine the plasma levels of cytokines.