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Open Veterinary Journal Apr 2024Bloody urine is classified in farm animals as hematuria, hemoglobinuria, and myoglobinuria. In small ruminants, discolored urine is reported due to several etiologies...
BACKGROUND
Bloody urine is classified in farm animals as hematuria, hemoglobinuria, and myoglobinuria. In small ruminants, discolored urine is reported due to several etiologies which is sometimes fatal. Of these causes are babesiosis, bacillary hemoglobinuria, copper toxicity, and hypophosphatemia.
AIM
This study was designed to investigate the clinical, etiological, hematobiochemical, ultrasonographic, and pathological findings in rams and bucks with red urine syndrome.
METHODS
Eighteen male animals (nine rams and nine bucks) of 6 months to 3 years were examined. Parallel, 10 healthy controls were used. They were admitted due to red urine, voiding of only urine drops, straining during the act of urination, grunting during urination, ventral abdominal edema, and abdominal distension. The duration of the disease ranged from 2 to 30 days. A history of chronic copper toxicosis was informed in two bucks and a ram. Two blood samples were collected from diseased as well as from controls in EDTA tubes (for complete blood count testing) and in plain tubes (for serum collection).
RESULTS
Hematuria was found in 11 animals (seven bucks and four rams) while hemoglobinuria was detected in seven animals (five bucks and two rams). Sonographic findings in diseased animals included ruptured urinary bladder in 3, ruptured urethra in 5, penile calculi, uroperitoneum in 6, distended urinary bladder in 7, hydronephrosis in 5, echogenic deposits in the bladder in 3, and ventral urine accumulation in four animals. Laboratory evaluation of a Geimsa-stained blood smear confirmed the infection with Babesia in three bucks and a ram. Hemolytic anemia was marked in two bucks and a ram due to chronic copper toxicity. Biochemical abnormalities included hypoalbuminemia, hyperglobulinemia, increased blood urea nitrogen and creatinine concentration, and hyperglycemia. Postmortem examination was carried out on six animals (four rams and two bucks).
CONCLUSION
Discolored urine in rams and bucks in this study resulted from hematuria due to urinary calculi and pelvic abscessation or from hemoglobinuria due to Babesia infection or due to copper toxicity. Hemolytic anemia was the outstanding hematological finding and hypoalbuminemia, hyperglobulinemia, increased blood urea nitrogen (BUN) and creatinine, and hyperglycemia were the characteristic biochemical findings. Sonography of the urinary tract was very helpful in assessing the renal parenchyma, urinary bladder, and abdominal cavity for the verification of urolithiasis, hydronephrosis, intact or ruptured urinary bladder, uroperitoneum, and perforated urethra.
Topics: Animals; Male; Goat Diseases; Sheep Diseases; Sheep; Goats; Ultrasonography; Hematuria; Hemoglobinuria
PubMed: 38808288
DOI: 10.5455/OVJ.2024.v14.i4.13 -
Genes Jul 2023Introduction/Aims HyperCKemia is considered a hallmark of neuromuscular diseases. It can be either isolated or associated with cramps, myalgia, weakness, myoglobinuria,...
Introduction/Aims HyperCKemia is considered a hallmark of neuromuscular diseases. It can be either isolated or associated with cramps, myalgia, weakness, myoglobinuria, or rhabdomyolysis, suggesting a metabolic myopathy. The aim of this work was to investigate possible genetic causes in order to help diagnose patients with recurrent hyperCKemia or clinical suspicion of inherited metabolic myopathy. Methods A cohort of 139 patients (90 adults and 49 children) was analyzed using a custom panel containing 54 genes associated with hyperCKemia. Results A definite genetic diagnosis was obtained in 15.1% of cases, while candidate variants or variants of uncertain significance were found in a further 39.5%. Similar percentages were obtained in patients with infantile or adult onset, with some different causative genes. was the gene most frequently identified, either with single or compound heterozygous variants, while variants were the most common cause for recessive cases. In one patient, mRNA analysis allowed identifying a large deletion missed by DNA sequencing, leading to a certain diagnosis. Conclusion These data confirm the high genetic heterogeneity of hyperCKemia and metabolic myopathies. The reduced diagnostic yield suggests the existence of additional genes associated with this condition but also allows speculation that a significant number of cases presenting with hyperCKemia or muscle symptoms are due to extrinsic, not genetic, factors.
Topics: Adult; Child; Humans; Muscular Diseases; Neuromuscular Diseases; Myalgia; Rhabdomyolysis; Muscles; Phosphatidate Phosphatase
PubMed: 37510298
DOI: 10.3390/genes14071393 -
The Indian Journal of Radiology &... Jul 2023
PubMed: 37362363
DOI: 10.1055/s-0043-1767785 -
Cureus Dec 2023This report describes the case of a 47-year-old woman with myalgias, weakness, and elevated creatine kinase associated with semaglutide therapy prescribed for weight...
This report describes the case of a 47-year-old woman with myalgias, weakness, and elevated creatine kinase associated with semaglutide therapy prescribed for weight loss. Her symptoms and laboratory markers were consistent with rhabdomyolysis and resolved after discontinuation of semaglutide. Upon rechallenge at a lower dose, symptoms recurred, and urinalysis was consistent with myoglobinuria. Symptoms again rapidly resolved upon discontinuation of the medication. It is imperative for physicians to recognize semaglutide as a possible cause of myalgias and rhabdomyolysis in clinically suspected patients. To the best of our knowledge, this is the first reported case in the literature and may be specific to semaglutide rather than a class effect of glucagon-like peptide 1 (GLP-1) agonists.
PubMed: 38192938
DOI: 10.7759/cureus.50227 -
Anesthesiology Jan 2024Malignant hyperthermia (MH) susceptibility is a heritable musculoskeletal disorder that can present as a potentially fatal hypermetabolic response to triggering...
BACKGROUND
Malignant hyperthermia (MH) susceptibility is a heritable musculoskeletal disorder that can present as a potentially fatal hypermetabolic response to triggering anesthesia agents. Genomic screening for variants in MH-associated genes RYR1 and CACNA1S provides an opportunity to prevent morbidity and mortality. There are limited outcomes data from disclosing variants in RYR1, the most common MH susceptibility gene, in unselected populations. The authors sought to identify the rate of MH features or fulminant episodes after triggering agent exposure in an unselected population undergoing genomic screening including actionable RYR1 variants.
METHODS
The MyCode Community Health Initiative by Geisinger (USA) is an electronic health record-linked biobank that discloses pathogenic and likely pathogenic variants in clinically actionable genes to patient-participants. Available electronic anesthesia and ambulatory records for participants with actionable RYR1 results returned through December 2020 were evaluated for pertinent findings via double-coded chart reviews and reconciliation. Descriptive statistics for observed phenotypes were calculated.
RESULTS
One hundred fifty-two participants had an actionable RYR1 variant disclosed during the study period. None had previous documented genetic testing for MH susceptibility; one had previous contracture testing diagnosing MH susceptibility. Sixty-eight participants (44.7%) had anesthesia records documenting triggering agent exposure during at least one procedure. None received dantrolene treatment or had documented muscle rigidity, myoglobinuria, hyperkalemia, elevated creatine kinase, severe myalgia, or tea-colored urine. Of 120 possibly MH-related findings (postoperative intensive care unit admissions, hyperthermia, arterial blood gas evaluation, hypercapnia, or tachycardia), 112 (93.3%) were deemed unlikely to be MH events; 8 (6.7%) had insufficient records to determine etiology.
CONCLUSIONS
Results demonstrate a low frequency of classic intraanesthetic hypermetabolic phenotypes in an unselected population with actionable RYR1 variants. Further research on the actionability of screening for MH susceptibility in unselected populations, including economic impact, predictors of MH episodes, and expanded clinical phenotypes, is necessary.
Topics: Humans; Genetic Testing; Malignant Hyperthermia; Metagenomics; Mutation; Phenotype; Ryanodine Receptor Calcium Release Channel
PubMed: 37787745
DOI: 10.1097/ALN.0000000000004786 -
European Journal of Case Reports in... 2024Hepatitis A is a mild self-limiting infection of the liver with spontaneous resolution of symptoms in most cases. However, clinicians should be aware of some commonly...
UNLABELLED
Hepatitis A is a mild self-limiting infection of the liver with spontaneous resolution of symptoms in most cases. However, clinicians should be aware of some commonly encountered complications and extrahepatic manifestations associated with hepatitis A for timely diagnosis and treatment. Rhabdomyolysis, an exceedingly rare complication of hepatitis A, is scarcely documented. We present a case of a 64-year-old man with symptoms consistent with rhabdomyolysis and an evanescent rash secondary to acute hepatitis A. He eventually recovered with conservative management. This case emphasizes the importance of recognizing and treating atypical presentations of acute hepatitis A infection.
LEARNING POINTS
The case underscores the importance of recognizing and treating atypical presentations of acute hepatitis A infection. Clinicians should be vigilant for unusual manifestations of common infections, facilitating timely diagnosis and appropriate management. Rhabdomyolysis is identified as an exceedingly rare complication of hepatitis A infection, which is scarcely documented in the literature. This case contributes to the growing understanding of extrahepatic manifestations associated with hepatitis A, emphasizing the importance of considering uncommon complications in the differential diagnosis, especially when typical clinical presentations are observed. The article discusses the treatment approach for rhabdomyolysis secondary to acute hepatitis A, which involves aggressive fluid resuscitation to prevent kidney damage from myoglobinuria, correction of electrolyte imbalances, and metabolic abnormalities. Additionally, vaccination against hepatitis A and advocating for sanitation measures are highlighted as important preventive strategies.
PubMed: 38846650
DOI: 10.12890/2024_004599 -
Annals of Medicine and Surgery (2012) Jul 2023COVID-19 is a systemic viral disease complicated with medical conditions. Severe rhabdomyolysis during the COVID-19 course is not until now well known.
UNLABELLED
COVID-19 is a systemic viral disease complicated with medical conditions. Severe rhabdomyolysis during the COVID-19 course is not until now well known.
CASE PRESENTATION
The authors presented a 48-year-old female with fatal rhabdomyolysis caused by COVID-19 infection. She was referred to us with cough, generalized myalgia and arthralgia, and fever during the last week. Laboratory results showed an elevated erythrocyte sedimentation rate, elevated C-reactive protein level, and elevated creatine kinase. The nasopharyngeal swab confirmed the diagnosis of coronavirus 2 RNA infection. She was managed initially in the COVID-19 isolation department. Three days later, she was transferred to the intensive care unit and mechanically ventilated. Laboratory results were consistent with rhabdomyolysis. She died because of cardiac arrest due to continuous hemodynamic deterioration.
CLINICAL DISCUSSION
Rhabdomyolysis is a serious condition that can be fatal or cause disability. Rhabdomyolysis cases have been reported in COVID-19 patients.
CONCLUSION
Rhabdomyolysis cases have been reported in COV19 patients. Further studies are needed to understand the mechanism and to optimize the treatment.
PubMed: 37427198
DOI: 10.1097/MS9.0000000000000881 -
Indian Journal of Nephrology 2023Acute kidney injury can complicate rhabdomyolysis in 10-40% patients. Myoglobinuria and elevated creatine kinase (CK) form the basis of diagnosis. When associated with...
Acute kidney injury can complicate rhabdomyolysis in 10-40% patients. Myoglobinuria and elevated creatine kinase (CK) form the basis of diagnosis. When associated with azotemia and/or oliguria, intermittent hemodialysis is a treatment option. 31-year-old young man came with lower limb pain after doing 800 sit ups. At the presentation, blood pressure was high, serum creatinine was 15.7mg/dl and creatine kinase(CK)>20000 IU/L. Intermittent dialysis was initiated. He developed posterior reversible encephalopathy syndrome, generalized tonic clonic convulsions and a further rise in CK. He underwent extracorporeal removal of myoglobin with medium cut-off (MCO) membrane. After 3 sessions with MCO membrane, myoglobin and CK levels reduced. He was transitioned to conventional dialysis and discharged in a stable condition with complete renal recovery. Medium cut-off membrane effectively removes circulating myoglobin without significant albumin loss and is cost effective.
PubMed: 38174295
DOI: 10.4103/ijn.ijn_151_22 -
Brain Sciences Aug 2023Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive long-chain fatty acid oxidation disorder caused by mutations in the gene. The...
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive long-chain fatty acid oxidation disorder caused by mutations in the gene. The myopathic form presents with exercise intolerance, exercise-related rhabdomyolysis, and muscle pain, usually starting during adolescence or adulthood. We report on a 17-year-old boy who has presented with exercise-induced muscle pain and fatigue since childhood. In recent clinical history, episodes of exercise-related severe hyperCKemia and myoglobinuria were reported. Electromyography was normal, and a muscle biopsy showed only "moth-eaten" fibers, and a mild increase in lipid storage in muscle fibers. NGS analysis displayed the already known heterozygote c.1769G>A variant and the unreported heterozygote c.523G>C change in both having disease-causing predictions. Plasma acylcarnitine profiles revealed high long-chain acylcarnitine species levels, especially C14:1. Clinical, histopathological, biochemical, and genetic tests supported the diagnosis of VLCAD deficiency. Our report of a novel pathogenic missense variant in expands the allelic heterogeneity of the disease. Since dietary treatment is the only therapy available for treating VLCAD deficiency and it is more useful the earlier it is started, prompt diagnosis is essential in order to minimize muscle damage and slow the disease progression.
PubMed: 37626534
DOI: 10.3390/brainsci13081178 -
Neuromuscular Disorders : NMD Jan 2024Obscurin, encoded by the OBSCN gene, is a muscle protein consisting of three main splice isoforms, obscurin-A, obscurin-B, and obscurin kinase-only protein (also known...
Obscurin, encoded by the OBSCN gene, is a muscle protein consisting of three main splice isoforms, obscurin-A, obscurin-B, and obscurin kinase-only protein (also known as KIAA1639 or Obsc-kin). Obscurin is located at the M-band and Z-disks and interacts with titin and myomesin. It plays an important role in the stability and maintenance of the A- and M-bands and the subsarcolemmal organization of the microtubule network. Furthermore, obscurin is involved in Ca2+ regulation and sarcoplasmic reticulum function and is connected to several other muscle proteins. OBSCN gene variants have been reported to be relatively common in inherited cardiomyopathies. Here we reported two young patients with a history of cramps, myalgia, exercise intolerance, rhabdomyolysis, and myoglobinuria without any evidence of concomitant cardiomyopathy in association with novel OBSCN variants (c.24822C>A and c.2653+1G>C). Obscurin-deficient muscle fibers seem to have increased susceptibility to damage triggered by exercise that may lead to rhabdomyolysis. More studies are needed to clarify the diverse clinical phenotypes and the pathophysiology of OBSCN gene variants.
Topics: Humans; Muscle Proteins; Muscle Fibers, Skeletal; Sarcomeres; Sarcoplasmic Reticulum; Rhabdomyolysis; Protein Serine-Threonine Kinases; Rho Guanine Nucleotide Exchange Factors
PubMed: 38159459
DOI: 10.1016/j.nmd.2023.10.013