Medicine
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Review Case Reports
Alkaptonuria presenting as lumbar degenerative disease: A case report and literature review.
Alkaptonuria (AKU) is a rare, inherited metabolic disease caused by deficient activity of homogentisic acid oxidase, leading to the accumulation of homogentisic acid and its oxidized product, benzoquinone acetic acid. These compounds cause black discoloration of cartilage, degeneration, inflammation, and calcification of intervertebral disks and large joints, resulting in pain and impaired quality of life. Despite its debilitating effects, there are no curative treatments for AKU, and management remains supportive. This study aims to contribute to the limited literature on AKU-related spinal manifestations by reporting a case of lumbar degenerative disease in an AKU patient and highlighting surgical intervention as an effective treatment approach. ⋯ This case underscores the importance of recognizing AKU as a potential cause of lumbar degenerative disease and highlights transforaminal lumbar interbody fusion surgery as a viable treatment option for pain relief and improved functionality in affected individuals.
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Review Case Reports
Diagnosis and treatment of COVID-19 complicated with liver abscess: A case report and literature review.
Novel coronavirus pneumonia is spreading in many countries and regions. Coronavirus disease (COVID-19) is characterized by rapid onset, high infectivity, rapid progression, and variably effective treatment. ⋯ COVID-19, elderly critically ill patients may be prone to rapid onset, complex disease, multiple organ damage, prolonged hospital stay, and high mortality. In the treatment of such COVID-19 patients, holistic thinking is required, pathology may not be limited to the lung, but may affect other organs, and treatment guidelines should not be blindly followed. Medication may need to be individualized for patients with COVID-19 complicated with liver abscess.
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Review Case Reports
Dexmedetomidine-associated hypothermia in critical trauma: A case report and literature analysis.
Hypothermia, defined as a core body temperature below 35°C, is a common and serious complication in severe trauma patients, often worsened by hemorrhage and medical interventions. Dexmedetomidine, an α2-adrenergic agonist used for sedation in intensive care units, has known thermoregulatory effects; however, its association with hypothermia in trauma patients remains insufficiently explored. ⋯ This case highlights dexmedetomidine's potential to induce hypothermia in critically ill trauma patients. It stresses the importance of careful temperature monitoring and proactive thermoregulation during sedative administration in intensive care. Further research is needed to explore the prevalence and mechanisms of dexmedetomidine-associated hypothermia in trauma populations.
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Review Case Reports
Prenatal phenotype of PNKP-related microcephaly, seizures, and developmental delay: A case report and literature review.
Microcephaly, epilepsy, and developmental delay (MCSZ) is a rare neurodevelopmental disorder associated with autosomal recessive inheritance of mutations in the polynucleotide kinase 3'-phosphatase (PNKP) gene. Prompt identification and management are essential, as delayed diagnosis or intervention may result in severe complications or mortality. In this case, prenatal screening in the second trimester detected fetal microcephaly with a gradual decline in head circumference, prompting the decision to terminate the pregnancy. Subsequent genetic analysis of the fetal tissue confirmed the presence of compound heterozygous mutations in the PNKP gene. ⋯ MCSZ, a condition caused by PNKP mutations, is exceedingly rare. Women with a history of adverse pregnancy outcomes should undergo close monitoring during prenatal checkups. If fetal microcephaly is detected, it is essential to strictly follow obstetric guidelines for prenatal care, such as comprehensive cranial magnetic resonance imaging and genetic testing for confirmation. Avoidance of consanguineous marriages is advised. Early detection and timely intervention are key to preventing adverse pregnancy outcomes.
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Review Case Reports
Retroperitoneal cystic mature teratoma in an adult male: A clinical report of one case and review of the literature.
A case of retroperitoneal cystic mature teratoma in an adult male. Retroperitoneal cystic mature teratoma is a type of teratoma. The disease has occult onset, does not have the typical characteristics of teratoma, and is difficult to distinguish from cystadenoma and other diseases. Cystic mature teratoma is benign, but it has a certain risk of malignant transformation. The purpose of this case report is to highlight the specificity of the case, collect and analyze the imaging features of the disease, and provide assistance for daily clinical diagnosis. ⋯ In conclusion, adult retroperitoneal cystic mature teratoma is a rare disease. This disease should be taken into account when we find a retroperitoneal cystic mass on our routine imaging. The shortcomings of this case report are mainly single case, small sample size, need to collect more cases, and long-term follow-up to summarize the characteristics of retroperitoneal cystic mature teratoma, in addition, this case did not undergo magnetic resonance imaging examination, magnetic resonance images cannot be analyzed.