World Journal of Clinical Cases最新文献

Background: Phytosterolemia, also known as sitosterolemia, is a rare autosomal recessive disease characterized by elevated plasma plant sterol levels and xanthomata, which is easily misdiagnosed as familial hypercholesterolemia. Patients with homozygous phytosterolemia often have severe clinical manifestations, with xanthomata in childhood and premature atherosclerosis. Our patient had a milder clinical phenotype.

Case summary: This report describes a patient with homozygous phytosterolemia who presented with only elevated cholesterol and low-density lipoprotein cholesterol (LDL-C) without xanthomata, arteriosclerosis, or hematological abnormalities. Homozygous mutation of ABCG5 which encodes an ATP-binding cassette transporter, was detected by whole exome sequencing and diagnosed as phytosterolemia. Measurement of the patient's plasma plant sterol levels detected significant elevations in stigmasterol, rapeseed oil-derived plant sterol, and β-glutaminol levels. Ezetimibe was started and a low plant sterol diet was recommended. The patient's blood lipid profile was reexamined one month later and showed significant decreases in total cholesterol and LDL-C levels. Phytosterolemia has similar clinical features as familial hypercholesterolemia, is highly susceptible to misdiagnosis, and has a very low incidence, and therefore clinicians need to consider a genetic diagnosis of a definitively hyperlipidemic disorder when statin drugs fail to lower lipid levels.

Conclusion: Phytosterolemia is easily misdiagnosed as familial hypercholesterolaemia and can be treated by dietary modification and cholesterol absorption inhibitors to lower blood lipids.

Schistosomal appendicitis (SA) is a rare but serious complication of schistosomiasis, a parasitic disease affecting over 250 million people worldwide. A recent retrospective study by Wang et al provides important insights into the clinicopathological characteristics of SA. The study compared 136 cases of SA to 5418 cases of non-SA over a ten-year period. Key findings include a higher average age of SA patients (61.73 years vs 35.8 years for non-SA), a higher proportion of acute on chronic appendicitis (33.1% vs 16%), and a significantly higher incidence of colorectal cancer (11.7% vs 2.2%). Despite these differences, SA remains a diagnostic challenge due to its nonspecific clinical presentation and lack of specific laboratory findings. The study also highlights the persistent prevalence of SA, accounting for 1.6%-3.4% of all appendicitis cases each year from 2013 to 2023. These findings underscore the need for enhanced awareness, early detection, and prompt treatment of SA in endemic regions. Given the association with colorectal cancer, patients with SA require thorough screening and follow-up. Further research into the pathogenesis and diagnostic markers of SA is warranted. As the global battle against schistosomiasis continues, targeted efforts to diagnose and manage SA can significantly improve patient outcomes.

Background: Precision medicine is an emerging field that includes tumor-targeted delivery and tumor microenvironment. This review explores the synergistic potential of combining nano-drug delivery systems with low radiation doses to achieve optimized therapeutic outcomes, particularly in the context of cancer treatment. Nanoparticle-based drug carriers offer precise and targeted delivery, enhancing the therapeutic index of anticancer agents. The use of lower radiation doses has become a focus in radiation oncology to minimize off-target effects on healthy tissues in palliation treatment with high-target volume lesions.

Aim: To conduct a bibliometric review of nanomedicine and glioblastoma (GBM), all relevant studies from the last two decades were included.

Methods: The search strategy comprised the keywords "nanomedicine "and "glioblastoma" in the title and/or abstract. All English-language documents from 1 January 2000 to 31 December 2023 were considered for the analysis. R code (version 4.2.0) with R Studio (version 2022.12.0-353) and the Bibliometrix package (version 4.0.1) were used for the analysis. A total of 680 documents were collected.

Results: We analyzed the bibliometric features of nanomedicine in glioma. With the limitations of the research, our analysis aims to highlight the increasing interest of researchers in the precision medicine field in GBM treatment and lead us to suggest further studies focusing on the association between nanomedicine and radiotherapy.

Conclusion: Due to the poor prognosis associated with GBM, new therapeutic approaches are necessary. There is an increasing interest in precision medicine, which includes nanomedicine and radiotherapy, for GBM treatment. This integration enhances the efficacy of targeted treatments and provides a promising avenue for reducing adverse effects, signifying a notable advancement in precision oncology.

Background: Thrombophilia contributes to a significant increased risk of venous thromboembolism and can be either inherited or acquired. Hereditary thrombophilia may arise from various gene mutations, some of which have not even been adequately reported or poorly understood. Previous studies reported a rare and novel missense mutation in the prothrombin gene (p.Arg596Gln), known as prothrombin Belgrade. The mechanisms and therapeutic strategies associated with prothrombin Belgrade mutation have not been fully elucidated.

Case summary: We present the case of a 26-year-old woman with recurrent systemic thrombosis induced by prothrombin Belgrade mutation. The patient suffered from cerebral venous sinus thrombosis that rapidly progressed to systemic thrombosis, alongside a family history of cerebral thrombosis, and no traditional risk factors or abnormal coagulation function. Whole-genome sequencing detected a novel and rare heterozygous prothrombin missense mutation, c.1787G>T (p.Arg596Gln), which was responsible for the major etiology of the systemic thrombosis.

Conclusion: This case strengthens our understanding about hereditary basis of thrombophilia and provokes considerations for therapeutic options on prothrombin Belgrade mutation.

Background: Acute pancreatitis in pregnancy is a rare but serious condition that can lead to high maternal mortality and fetal loss. Instances of pregnancy complicated by severe acute pancreatitis, particularly with subsequent respiratory and cardiac arrest, are rarely reported.

Case summary: We present the case of a 35-year-old woman, at 36 + 5 weeks of gestation, who presented with paroxysmal epigastric pain accompanied by low back pain, nausea, and vomiting. According to the clinical symptoms, B-ultrasound imaging and biochemical indicators, the patient was diagnosed with acute pancreatitis and initially managed conservatively. However, 3 hours after admission, the patient experienced respiratory and cardiac arrest, and the fetus died. In this case, the adverse outcomes occurred due to the lack of aggressive fluid resuscitation and an active surgical intervention.

Conclusion: Implementing aggressive fluid resuscitation to sustain tissue perfusion, alongside the proactive evaluation of pharmacological agents that suppress gastric acid secretion and inhibit pancreatic enzyme activity, may be beneficial in mitigating the risk of a severely adverse prognosis. Effective management of acute pancreatitis during pregnancy requires careful timing of surgical intervention, a thorough evaluation of the risks and benefits regarding the continuation or termination of pregnancy, and a focus on safeguarding both maternal and fetal health.

High-grade pancreatic intraepithelial neoplasia is a challenging diagnosis and it does not exhibit mass lesions. It is suspected based on changes in the main pancreatic duct in magnetic resonance cholangiopancreatography. Sometimes only an unclear duct shows in magnetic resonance cholangiopancreatography with no focal strictures and upstream dilatation of the main pancreatic duct. Serial pancreatic juice cytology is valuable in diagnosis of those patients.

Beta thalassemia (β-thalassemia) syndromes are a heterogeneous group of inherited hemoglobinopathies caused by molecular defects in the beta-globin gene that lead to the impaired synthesis of beta-globin chains of the hemoglobin. The hallmarks of the disease include ineffective erythropoiesis, chronic hemolytic anemia, and iron overload. Clinical presentation ranges from asymptomatic carriers to severe anemia requiring lifelong blood transfusions with subsequent devastating complications. The management of patients with severe β-thalassemia represents a global health problem, particularly in low-income countries. Until recently, management strategies were limited to regular transfusions and iron chelation therapy, with allogeneic hematopoietic stem cell transplantation available only for a subset of patients. Better understanding of the underlying pathophysiological mechanisms of β-thalassemia syndromes and associated clinical phenotypes has paved the way for novel therapeutic options, including pharmacologic enhancers of effective erythropoiesis and gene therapy.

Background: Cleidocranial dysplasia (CCD) is an infrequent clinical condition with an autosomal dominant inheritance pattern. It is characterized by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, and short stature. Approximately 60%-70% of patients with CCD have mutations in the RUNX family transcription factor 2 gene. However, prenatal diagnosis of CCD is difficult when the family history is unknown.

Case summary: We report a rare case of fetal CCD with an unknown family history, confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks. The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene (c.674G>A). After careful consideration, the pregnant woman and her family decided to continue the pregnancy.

Conclusion: Definitive prenatal diagnosis of CCD should include family history, ultrasound diagnosis, and genetic analysis, especially if family history is unknown.

Nitric oxide (NO) is a gaseous molecule produced by 3 different NO synthase (NOS) isoforms: Neural/brain NOS (nNOS/bNOS, type 1), endothelial NOS (eNOS, type 3) and inducible NOS (type 2). Type 1 and 3 NOS are constitutively expressed. NO can serve different purposes: As a vasoactive molecule, as a neurotransmitter or as an immunomodulator. It plays a key role in cerebral ischemia/reperfusion injury (CIRI). Hypoxic episodes simulate the production of oxygen free radicals, leading to mitochondrial and phospholipid damage. Upon reperfusion, increased levels of oxygen trigger oxide synthases; whose products are associated with neuronal damage by promoting lipid peroxidation, nitrosylation and excitotoxicity. Molecular pathways in CIRI can be altered by NOS. Neuroprotective effects are observed with eNOS activity. While nNOS interplay is prone to endothelial inflammation, oxidative stress and apoptosis. Therefore, nNOS appears to be detrimental. The interaction between NO and other free radicals develops peroxynitrite; which is a cytotoxic agent. It plays a main role in the likelihood of hemorrhagic events by tissue plasminogen activator (t-PA). Peroxynitrite scavengers are currently being studied as potential targets to prevent hemorrhagic transformation in CIRI.

Background: Cauda equina syndrome (CES) is characterized by a group of symptoms that may be caused by inflammation, spinal cord compression, venous congestion, or ischemia. This syndrome is commonly an indication for surgical intervention but has not been determined as a postoperative complication following surgery for lumbar spine disease.

Case summary: To report the case of a 54-year-old male patient who had CES following spinal surgery, with no obvious compression lesions found during re-exploration, suggesting that vascular insufficiency may have contributed to the condition. Furthermore, a series of urodynamic studies on bladder recovery patterns in such complications have also been investigated.

Conclusion: Postoperative CES requires urgent imaging and exploration to rule out compression; noncompressive cases, including vascular insufficiency may performed conservative management.