Storage disease

BACKGROUND Cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) deficiency is an extremely rare autosomal recessive inherited error of metabolism in which gluconeogenesis is impaired, resulting in life-threatening episodes of hypoglycemia and metabolic acidosis. The diagnosis of gluconeogenesis disorders is challenging. In the diagnostic pathway, the molecular test plays a paramount role. CASE REPORT The aim of the paper is to present the case report of a girl with recurrent episodes of severe hypoglycemia, in whom molecular diagnosis enabled the confirmation of PEPCK - C deficiency...

Benign prostatic hyperplasia (BPH) can cause urethral compression, bladder stone formation, and renal function damage, which may endanger the life of patients. Therefore, we aimed to develop plant-based preparations for BPH treatment with no side effects. In this study, the Lactiplantibacillus plantarum 322Hp, Lactobacillus acidophilus 322Ha, and Limosilactobacillus reuteri 322Hr were used to ferment rape pollen. The fermented rape pollen was subsequently converted into fermented rape pollen powder (FRPP) through vacuum freeze-drying technology...

OBJECTIVE: The objective of this study was to evaluate the effects of home-based pelvic floor muscle training in women with urinary incontinence, addressing the difficulties arising from social isolation due to the coronavirus disease 2019 pandemic by utilizing a specialized mobile app. METHODS: This randomized, single-group clinical trial aimed to assess the efficacy of pelvic floor muscle training guided by a mobile app (Diario Saúde) in women with stress urinary incontinence...

Using fecal microbial community profiles through sequencing approaches helps to unravel the intimate interplay between health, wellness, and diet in wild animals with their environment. Ensuring the proper preservation of fecal samples before processing is crucial to ensure reliable results. In this study, we evaluated the efficiency of two different preservation methods, considering the following criteria: DNA yield, quality and integrity, and microbial community structure based on Oxford Nanopore amplicon sequencing of the V3-V4 region of bacterial 16S rRNA and protozoa 18S rRNA genes...

Since the establishment of the first eye bank in the 1940s, their role has evolved to face new challenges. With the recent development of lamellar keratoplasties, eye banks play an even bigger role in the selection and preparation of donor tissues. The increasing number of keratoplasty techniques and the high demand for "ready-to-use" tissues are challenging eye banks to improve and develop new preparation techniques. Besides necessary examinations, new approaches of tissue analysis in eye banks allow a better/optimized selection of corneal tissues...

BACKGROUND: Gastrointestinal (GI) function is critical for patients in intensive care units (ICUs). Whether and how much critically ill patients without GI primary diseases benefit from abdominal physical examinations remains unknown. No evidence from big data supports its possible additive value in outcome prediction. METHODS: We performed a big data analysis to confirm the value of abdominal physical examinations in ICU patients without GI primary diseases. Patients were selected from the Medical Information Mart for Intensive Care (MIMIC)-IV database and classified into two groups depending on whether they received abdominal palpation and auscultation...

INTRODUCTION: The advances of self-crossing hyaluronic acid (SC-HA) fillers combination use with polydioxanone thread in minipigs were examined for compatibility, effectiveness, and immune response. MATERIALS AND METHODS: A 12-week experiment was conducted using 6 minipigs (3 male and 3 female each) to evaluate the effects of SC-HA filler. The molecular weight of SC-HA filler was fixed at 200 kDa and alternative storage modulus of G80, G250, and G500 were examined...

BACKGROUND: Systematic reviews of Randomized Controlled Trials (RCTs) are an important part of the evidence-based medicine paradigm. However, the creation of such systematic reviews by clinical experts is costly as well as time-consuming, and results can get quickly outdated after publication. Most RCTs are structured based on the Patient, Intervention, Comparison, Outcomes (PICO) framework and there exist many approaches which aim to extract PICO elements automatically. The automatic extraction of PICO information from RCTs has the potential to significantly speed up the creation process of systematic reviews and this way also benefit the field of evidence-based medicine...

Skin cancer is the most prevalent kind of cancer in people. It is estimated that more than 1 million people get skin cancer every year in the world. The effectiveness of the disease's therapy is significantly impacted by early identification of this illness. Preprocessing is the initial detecting stage in enhancing the quality of skin images by removing undesired background noise and objects. This study aims is to compile preprocessing techniques for skin cancer imaging that are currently accessible. Researchers looking into automated skin cancer diagnosis might use this article as an excellent place to start...

Low compliance is not an independent disease but a severe manifestation resulting from various disorders of the storage and excretory function of the bladder. Reduced distensibility of the detrusor muscle can lead to a pressure load on the upper urinary tract but also to urge-dominant LUTS and urinary tract infections. Neurogenic causes, especially spinal cord injury/spina bifida but also iatrogenic damage or subvesical obstruction, can contribute to the development. This article is intended to provide information about the epidemiology and complex pathogenetic mechanisms as well as the necessary diagnostic steps...

Neurogenic lower urinary tract dysfunction in multiple sclerosis is often underestimated, underdiagnosed, and inadequately treated. Depending on the course of the disease and the location of neural damage, it occurs with varying frequency and types of impairment of urine storage and voiding function. Symptoms such as urinary incontinence, recurrent urinary tract infections, urgency, pollakiuria, reduced urinary flow, hesitancy as well as postvoid residual urine may occur. However, the symptoms do not allow any conclusions to be drawn about the underlying type of neurogenic lower urinary tract dysfunction...

A biorepository, also referred to as a "biobank," is a collection of biologic samples that are stored for laboratory research. With the emergence of precision medicine, the importance of leveraging individual patient biomolecular signatures to improve diagnosis, prognosis, and treatment is becoming increasingly recognized. Successful development and sustainment of a biorepository provides the potential for transformative preclinical research. Establishing a biobank requires a team approach with involvement of the institutions' research laboratory team and regulatory body...

Lysosomes are degradation centers of cells and intracellular hubs of signal transduction, nutrient sensing, and autophagy regulation. Dysfunction of lysosomes contributes to a variety of diseases, such as lysosomal storage diseases (LSDs) and neurodegeneration, but the mechanisms are not well understood. Altering lysosomal activity and examining its impact on the occurrence and development of disease is an important strategy for studying lysosome-related diseases. However, methods to dynamically regulate lysosomal function in living cells or animals are still lacking...

RNAscope in situ hybridization (ISH) detects target RNA in formalin-fixed, paraffin-embedded (FFPE) tissues. Protocols suggest that prolonged FFPE storage and formalin fixation may impact signal detection, potentially limiting the utility of RNAscope ISH in retrospective studies. To develop parameters for RNAscope use with archived specimens, we evaluated the effect of formalin-fixation time by measuring the signal of a reference gene ( 16srRNA ) in selected tissues fixed in 10% neutral-buffered formalin for 1, 2, 3, 5, 7, 10, 14, 21, 28, 60, 90, 180, and 270 d...

Gaucher disease (GD) is a lysosomal storage disorder caused by a mutation in the GBA1 gene, responsible for encoding the enzyme Glucocerebrosidase (GCase). Although neuronal death and neuroinflammation have been observed in the brains of individuals with neuronopathic Gaucher disease (nGD), the exact mechanism underlying neurodegeneration in nGD remains unclear. In this study, we used two induced pluripotent stem cells (iPSCs)-derived neuronal cell lines acquired from two type-3 GD patients (GD3-1 and GD3-2) to investigate the mechanisms underlying nGD by biochemical analyses...

BACKGROUND: Chronic alcohol consumption is a major public health issue. The primary organ damaged by alcohol abuse is the liver, leading to alcohol-associated liver disease (ALD). ALD begins with hepatic steatosis and can progress to fibrosis and cirrhosis; however, we have an incomplete understanding of ALD pathogenesis. Interestingly, the liver is also the major organ for vitamin A metabolism and storage, and ALD has previously been linked with altered hepatic vitamin A homeostasis...

BACKGROUND OBJECTIVES: Insect growth regulators (IGRs) are biological hormone analogue or mimics used as pesticides to inhibit the growth of larva during their molting and skin shedding. This study aimed to test the effect of IGRs on the eggs hatching and post-hatching inhibition of Aedes mosquitoes and understanding its effect in the mosquito breeding habitats for reduction in adult emergence. METHODS: Experiments on the evaluation of three insect growth regulators (IGRs) for the control of different stages of Aedes aegypti was carried out during 2020-21...

Fermentation is thought to be born in the Fertile Crescent, and since then, almost every culture has integrated fermented foods into their dietary habits. Originally used to preserve foods, fermentation is now applied to improve their physicochemical, sensory, nutritional, and safety attributes. Fermented dairy, alcoholic beverages like wine and beer, fermented vegetables, fruits, and meats are all highly valuable due to their increased storage stability, reduced risk of food poisoning, and enhanced flavor...

Iron contributes to tumor initiation and progression; however, excessive intracellular free Fe2+ can be toxic to cancer cells. Our findings confirmed that multiple myeloma (MM) cells exhibited elevated intracellular iron levels and increased ferritin, a key protein for iron storage, compared with normal cells. Interestingly, Bortezomib (BTZ) was found to trigger ferritin degradation, increase free intracellular Fe2+ , and promote ferroptosis in MM cells. Subsequent mechanistic investigation revealed that BTZ effectively increased NCOA4 levels by preventing proteasomal degradation in MM cells...

Gaucher disease (GD) is an autosomal recessively inherited lysosomal storage disorder caused by biallelic pathological variants in the GBA1 gene. Patients present along a broad clinical spectrum, and phenotypes are often difficult to predict based on genotype alone. The variant R463C (p.Arg502Cys) exemplifies this challenge. To better characterize its different clinical presentations, we examined the records of 25 current and historical patients evaluated at the National Institutes of Health. Nine patients were classified as GD1, 14 were classified as GD3, and two had an ambiguous diagnosis between GD1 and GD3...