Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a global epidemic. MASLD has a strong genetic component, and a common missense variant (rs2642438) in the mitochondrial amidoxime-reducing component 1 (MARC1) gene confers protection against its onset and severity. However, there are contrasting results regarding the mechanisms entangling this protection.
View Article and Find Full Text PDFObjective: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a global health concern with no effective and specific drug treatment available. The rs2642438 minor allele in mitochondrial amidoxime-reducing component 1 (MARC1) results in an aminoacidic substitution (p.Ala165Thr) and associates with protection against MASLD.
View Article and Find Full Text PDFA comparative study of existing junction-primer-designing software revealed many limitations among them. Hence, we developed a new computational program, Ex-Ex Primer, which offers many improved, user-friendly features, and reliably creates junction primers and probes. This online suite can also be used to design primers/probes from other sites of nucleic acid recombination, insertion, deletion, or splicing, and regular probes/primers.
View Article and Find Full Text PDFJ Neonatal Perinatal Med
February 2022
Background: Mother's milk is the best, and ideal method for infant feeding. We found that this practice was not being followed in our hospital. A survey was conducted in the unit with regards to breastfeeding practices which revealed that most babies who were discharged from our nursery were on formula supplements.
View Article and Find Full Text PDFViruses rely on their host for reproduction. Here, we made use of genomic and structural information to create a biomass function capturing the amino and nucleic acid requirements of SARS-CoV-2. Incorporating this biomass function into a stoichiometric metabolic model of the human lung cell and applying metabolic flux balance analysis, we identified host-based metabolic perturbations inhibiting SARS-CoV-2 reproduction.
View Article and Find Full Text PDFSupernumerary kidney is one of the rarest congenital anomalies of the genito-urinary tract. Around 100 cases have been reported in the literature so far. Even rare is the fusion of a supernumerary kidney.
View Article and Find Full Text PDFObjective: Nonalcoholic fatty liver disease (NAFLD) is becoming a leading cause of advanced chronic liver disease. The progression of NAFLD, including nonalcoholic steatohepatitis (NASH), has a strong genetic component, and the most robust contributor is the patatin-like phospholipase domain-containing 3 (PNPLA3) rs738409 encoding the 148M protein sequence variant. We hypothesized that suppressing the expression of the PNPLA3 148M mutant protein would exert a beneficial effect on the entire spectrum of NAFLD.
View Article and Find Full Text PDFNutr Metab Cardiovasc Dis
February 2018
Background And Aims: Type I hyperlipoproteinemia, also known as familial chylomicronemia syndrome (FCS), is a rare autosomal recessive disorder caused by variants in LPL, APOC2, APOA5, LMF1 or GPIHBP1 genes. The aim of this study was to identify novel variants in the LPL gene causing lipoprotein lipase deficiency and to understand the molecular mechanisms.
Methods And Results: A total of 3 individuals with severe hypertriglyceridemia and recurrent pancreatitis were selected from the Lipid Clinic at Sahlgrenska University Hospital and LPL was sequenced.
Background: The World Health Organization has categorized plague as a re-emerging disease and the potential for Yersinia pestis to also be used as a bioweapon makes the identification of new drug targets against this pathogen a priority. Environmental temperature is a key signal which regulates virulence of the bacterium. The bacterium normally grows outside the human host at 28 °C.
View Article and Find Full Text PDFAnnu Int Conf IEEE Eng Med Biol Soc
September 2015
A plethora of data is accumulating from high throughput methods on metabolites, coenzymes, proteins, and nucleic acids and their interactions as well as the signalling and regulatory functions and pathways of the cellular network. The frozen moment viewed in a single discrete time sample requires frequent repetition and updating before any appreciation of the dynamics of component interaction becomes possible. Even then in a sample derived from a cell population, time-averaging of processes and events that occur in out-of-phase individuals blur the detailed complexity of single cell organization.
View Article and Find Full Text PDFThere is an increasing call for the absolute quantification of time-resolved metabolite data. However, a number of technical issues exist, such as metabolites being modified/degraded either chemically or enzymatically during the extraction process. Additionally, capillary electrophoresis mass spectrometry (CE-MS) is incompatible with high salt concentrations often used in extraction protocols.
View Article and Find Full Text PDFConventional extraction protocols for yeast have been developed for relatively rapid-growing low cell density cultures of laboratory strains and often do not have the integrity for frequent sampling of cultures. Therefore, these protocols are usually inefficient for cultures under slow growth conditions or of non-laboratory strains. We have developed a combined mechanical and chemical disruption procedure using vigorous bead-beating that can consistently disrupt yeast cells (> 95%), irrespective of cell cycle and metabolic state.
View Article and Find Full Text PDFAll previous studies on the yeast metabolome have yielded a plethora of information on the components, function and organisation of low molecular mass and macromolecular components involved in the cellular metabolic network. Here we emphasise that an understanding of the global dynamics of the metabolome in vivo requires elucidation of the temporal dynamics of metabolic processes on many time-scales. We illustrate this using the 40 min oscillation in respiratory activity displayed in auto-synchronous continuously grown cultures of Saccharomyces cerevisiae, where respiration cycles between a phase of increased respiration (oxidative phase) and decreased respiration (reductive phase).
View Article and Find Full Text PDFDuplications of the rectum constitute one of the rare congenital anomalies. Presentation as a sequestrated interlabial mass without any associated anomaly has not been reported before. We cannot readily offer any embryological explanation for this congenital distortion.
View Article and Find Full Text PDFSymptomatic presentation of orthotopic ureterocele in infancy is very rare and its association with posterior urethral valves has not been reported till date. The first such case and a review of the literature on anomalies in association with posterior urethral valves is presented.
View Article and Find Full Text PDFArch Dis Child Fetal Neonatal Ed
January 2009
Objective: The New Ballard Score (NBS) has been evaluated only until 96 h of age. We studied the validity and reliability of NBS for gestational age (GA) assessment on days 1, 5 and 7 of postnatal age (PNA).
Design And Setting: This prospective, analytical study was conducted in a level III neonatal unit.
Chronic systemic (hepatosplenic) candidiasis (CSC) is a syndrome of invasive candidiasis characterized by fever without localizing signs or symptoms. It occurs predominantly in patients with acute leukemia, after prolonged severe neutropenia. We report a young woman who underwent extensive chemotherapy for granulocytic sarcoma of the ovary; CSC then developed in this patient.
View Article and Find Full Text PDFMetastatic tumours of the eye commonly occur from primaries of the breast or lung. The prognosis is poor and the mean life expectancy is 6.5 months from diagnosis.
View Article and Find Full Text PDFTo evaluate the efficacy of a semirigid mini-endoscope and the Swiss Lithoclast compared with a conventional rigid endoscope and ultrasound, the results of transurethral ureteroscopic lithotripsy in 147 patients over a period of 30 months were analyzed according to the type of ureteroscope (rigid v semirigid) and energy (ultrasound v Lithoclast) used. In the initial 25 cases (Group I), a conventional rigid ureteroscope and ultrasound were used. The latter 122 patients (Group II) were subjected to ureteroscopic lithotripsy using a miniscope and the Lithoclast.
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