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Cureus May 2024Histoplasma capsulatum is a dimorphic fungus that grows in nature as a mold or in culture but converts to a small yeast during cellular invasion. While most...
Histoplasma capsulatum is a dimorphic fungus that grows in nature as a mold or in culture but converts to a small yeast during cellular invasion. While most histoplasmosis infections are primarily asymptomatic or mildly symptomatic, disseminated histoplasmosis is a relentlessly progressive granulomatous disease that can mimic other granulomatous diseases, such as tuberculosis, sarcoidosis or coccidioidomycosis, more so in the proper context of immunosuppression. The current global migrant crisis, particularly the United States migrant crisis conversation is mostly socio-political; however, it also has a public health implication as exemplified by the case of a 35-year-old male who migrated from Haiti via Chile and Mexico to the United States. He presented with a four-day history of fever, generalized body aches, and cough. This case underscores the importance of entertaining a myriad of differentials and avoiding the tendency for anchoring, especially when initial therapy yields little clinical response.
PubMed: 38947682
DOI: 10.7759/cureus.61434 -
Cureus May 2024Fabry disease (FD) is a lysosomal storage disease caused by a deficit of α-galactosidase A (GAL). Recently, plasma globotriaosylsphingosine (lyso-Gb3), a pathogenic...
Potential Usefulness of Lifetime Globotriaosylsphingosine Exposure at Diagnosis and Baseline Modified Disease Severity Score in Early-Diagnosed Patients With Fabry Disease.
BACKGROUND
Fabry disease (FD) is a lysosomal storage disease caused by a deficit of α-galactosidase A (GAL). Recently, plasma globotriaosylsphingosine (lyso-Gb3), a pathogenic analog of a substrate of GAL, has been suggested as a potential biomarker for FD, and disease severity scores, such as the Mainz Severity Score Index (MSSI), the Disease Severity Scoring System (DS3), and FASTEX (FAbry STabilization indEX), are useful tools for evaluating the severity of signs and symptoms in symptomatic FD patients. However, a more useful method of evaluating disease severity in early-diagnosed FD patients such as children, adult females, and asymptomatic patients is needed. Here, we proposed modified MSSI and DS3 scores to which we added phenotype, urinary mulberry bodies, and history of past pain attacks and examined the clinical usefulness of lyso-Gb3 and modified scores for early-diagnosed FD patients.
RESULT
In 13 early-diagnosed FD patients, we developed modified MSSI and DS3 scores and examined the correlation of lifetime lyso-Gb3 exposure at diagnosis with the conventional or modified scores. Lifetime lyso-Gb3 exposure was positively correlated only with the modified DS3 score. Additionally, we examined the long-term changes in plasma lyso-Gb3 concentration and in conventional MSSI, DS3, and FASTEX. In males, plasma lyso-Gb3 concentration decreased more rapidly than in females. In all patients, the severity scores were mild and remained nearly stable throughout the follow-up period.
CONCLUSION
Our data suggest that lifetime lyso-Gb3 exposure and the modified DS3 score are useful in early-diagnosed patients.
PubMed: 38947680
DOI: 10.7759/cureus.61380 -
Cureus May 2024Thoracolumbar fractures (TLF) requiring surgical intervention can be treated with either open or percutaneous stabilization, each with some distinct risks and...
BACKGROUND
Thoracolumbar fractures (TLF) requiring surgical intervention can be treated with either open or percutaneous stabilization, each with some distinct risks and benefits. There is insufficient evidence available to support one approach as superior.
METHODS
Patients who underwent spinal fixation for TLF between 2008 and 2020 were reviewed. Patients with one or two levels of fracture treated with either open or percutaneous stabilization were included. Exclusion criteria were more than two levels of fracture, patients requiring corpectomy, stabilization constructs that crossed the cervicothoracic or lumbosacral junction, history of previous thoracolumbar fusion at the same level, spinal neoplasm, anterior or lateral fixation, and spinal infection. Demographic, operative, and clinical data were collected for all patients.
RESULTS
691 patients (377 open, 314 percutaneous) met the inclusion criteria. Patients in the percutaneous cohort sustained lower estimated blood loss (73 vs 334 ml; p< 0.001) and shorter length of surgery (114 vs. 151 minutes; p< 0.001). No differences were observed in the length of hospital stay or overall reoperation rates. Asymptomatic (7.0% vs 0.8%) and symptomatic (3.5% vs 0.5%) hardware removal was more common with the percutaneous cohort, while the incidence of revision surgery due to hardware failure requiring the extension of the construct (1.9% vs 5.8%) and infection (1.9% vs 6.4%) was greater in the open group.
CONCLUSION
Percutaneous stabilization for TLF was associated with shorter operative time, less blood loss, lower infection rate, higher rates of elective hardware removal, and lower rates of hardware failure requiring extension of the construct compared to open stabilization.
PubMed: 38947669
DOI: 10.7759/cureus.61369 -
Cureus May 2024Superior vena cava (SVC) syndrome, once a rarity, has seen an uptick in cases with diverse origins. While this disease process is clinically diagnosable, imaging...
Superior vena cava (SVC) syndrome, once a rarity, has seen an uptick in cases with diverse origins. While this disease process is clinically diagnosable, imaging modalities and tissue biopsies further refine interventions. The clinical presentation includes but is not limited to edema of the arms, neck, and head, facial plethora, cyanosis, and or distention of subcutaneous vessels. SVC syndrome can be attributed to extrinsic compression or thrombosis in many cases. If symptoms are not life-threatening, the overall morbidity is based on the underlying root cause. Few cases have been reported with associated death due to epistaxis. However, the obstruction itself can be initially asymptomatic and then slowly progress over months to years. This case report highlights a distinct instance of SVC syndrome with notable risk factors: implantable cardioverter defibrillator placement and prior cardiac trauma status post-intervention.
PubMed: 38947655
DOI: 10.7759/cureus.61303 -
Pancreatic Insulinoma Masquerading as Neurological Disease: Diagnosis and Treatment of a Rare Tumor.Cureus May 2024Insulinomas are rare functional pancreatic neuroendocrine tumors that typically manifest with classic hypoglycemic symptoms, such as diaphoresis, palpitations, and...
Insulinomas are rare functional pancreatic neuroendocrine tumors that typically manifest with classic hypoglycemic symptoms, such as diaphoresis, palpitations, and tremors. Although infrequent, neuroglycopenic symptoms associated with insulinomas have been reported, often leading to delayed diagnoses. Here, we present the case of a 31-year-old male with pancreatic insulinoma who experienced recurrent episodes of seizures and confusion preceded by diaphoresis, tremors, and palpitations. During these episodes, he was found to be hypoglycemic. Comprehensive evaluations, including brain and abdominal imaging, as well as biochemical and serological testing, were conducted. The findings confirmed a diagnosis of pancreatic insulinoma. The patient underwent surgical resection of the tumor, and a biopsy confirmed the insulinoma diagnosis. He remained asymptomatic during subsequent follow-ups.
PubMed: 38947643
DOI: 10.7759/cureus.61378 -
Cureus May 2024Sinoliths are mineral deposits that occur within the paranasal sinus due to long-standing obstruction and lack of drainage. It is a rare differential diagnosis for...
Sinoliths are mineral deposits that occur within the paranasal sinus due to long-standing obstruction and lack of drainage. It is a rare differential diagnosis for intrasinus lesions found on imaging. On computed tomography (CT) of the head, these calcifications are visualized as dense radiopaque bodies within the sinuses. Typically, patients with sinoliths are asymptomatic, but if complications of chronic obstruction and recurring sinusitis arise, endoscopic removal of the sinolith may be recommended. Here, we present a 95-year-old female found to have a sinolith in the sphenoid sinus on incidental imaging. This report discusses the etiology, pathophysiology, clinical presentation, radiologic findings, and management of sinoliths.
PubMed: 38947605
DOI: 10.7759/cureus.61386 -
Research and Practice in Thrombosis and... May 2024
PubMed: 38947548
DOI: 10.1016/j.rpth.2024.102450 -
Clinical Case Reports Jul 2024The purpose of this case report is to reveal one of the cardiovascular side effects of favipiravir, sinus bradycardia.
KEY CLINICAL MESSAGE
The purpose of this case report is to reveal one of the cardiovascular side effects of favipiravir, sinus bradycardia.
ABSTRACT
Favipiravir has emerged as a potential treatment for COVID-19, with its antiviral properties showing promise in inhibiting viral replication. However, concerns regarding its safety profile, particularly its cardiac adverse effects, remain a subject of debate. We present the case of a 58-year-old man with a history of diabetes mellitus and chronic obstructive pulmonary disease who developed bradycardia following treatment with favipiravir for COVID-19 pneumonia. Despite being asymptomatic, the patient exhibited sinus bradycardia, which resolved upon discontinuation of favipiravir. Favipiravir has been associated with QT prolongation and sinus bradycardia, though the exact mechanisms remain unclear. Our case adds to the growing body of evidence highlighting the potential cardiac complications of favipiravir therapy in COVID-19 patients. Further research is warranted to clarify the underlying mechanisms and optimize patient management strategies. Clinicians should be cautious for cardiac adverse events when prescribing favipiravir for COVID-19 treatment, especially in patients with preexisting cardiac conditions. Continued research is essential to ensure the safe and effective use of favipiravir in the management of COVID-19.
PubMed: 38947534
DOI: 10.1002/ccr3.9052 -
Heliyon Jun 2024Lynch syndrome (LS) is the most frequent cancer predisposition syndrome affecting the colon and rectum. A pathogenic variant (PV) disrupting one of the mismatch repair...
Lynch syndrome (LS) is the most frequent cancer predisposition syndrome affecting the colon and rectum. A pathogenic variant (PV) disrupting one of the mismatch repair (MMR) genes is responsible for the disease. The spectrum of tumors in LS is heterogeneous and includes cancer of the colon and rectum (CRC), endometrium, ovaries, stomach, small bowel, urinary tract, bladder, pancreas, and skin. Knowledge of the phenotypic variation of patients with LS, the type and frequency of PVs, and cascade testing studies in the Latin American population is limited. The present study aims to recognize the PVs in MMR genes, describe the phenotype in Mexican-Mestizo patients and their relatives, and identify the acceptance rate of cascade testing of relatives at risk. We included 40 carriers of a MMR gene PV and 142 relatives that developed a LS-related neoplasm. Patients' clinical data, number, and type of malignancies were obtained from their medical records. Amsterdam I-II, Bethesda criteria, and PREMM5® predictive model score were estimated. Available immunohistochemistry (IHC) reports were analyzed. Relatives at risk were determined from index cases pedigrees. The distribution of MMR gene mutations among 40 probands was: (67.5 %) (22.5 %) (7.5 %), and (2.5 %). Out of the 182 LS cases, 58 % exhibited the LS phenotype before age 50. The most common tumor was CRC, followed by endometrial cancer in women and gastric cancer in males. We found a 90.0 % concordance between the IHC and germline PV. The most frequent PV in our sample was c.676C > T, occurring in 1/6 index cases. All probands disclosed their molecular test result to their family. Out of the 451 asymptomatic relatives at risk, 28.2 % underwent germline testing. Our results highlight the importance of conducting germline genetic studies in LS since it allows the establishment of appropriate cancer screening, risk-reducing measures, and genetic cascade testing among relatives at risk. Interestingly, we observed a significantly higher prevalence of the c.676C > T variant in probably a singular characteristic of the Mexican-Mestizo population. New strategies to facilitate accurate communication between index cases and relatives should be implemented to improve the cascade testing acceptance rate.
PubMed: 38947473
DOI: 10.1016/j.heliyon.2024.e31855 -
World Journal of Gastroenterology Jun 2024In this editorial we comment on the article by Agatsuma published in the . They suggest policies for more effective colorectal screening. Screening is the main policy...
In this editorial we comment on the article by Agatsuma published in the . They suggest policies for more effective colorectal screening. Screening is the main policy that has led to lower mortality rates in later years among the population that was eligible for screening. Colonoscopy is the gold standard tool for screening and has preventive effects by removing precancerous or early malignant polyps. However, colonoscopy is an invasive process, and fecal tests such as the current hemoglobin immunodetection were developed, followed by endoscopy, as the general tool for population screening, avoiding logistical and economic problems. Even so, participation and adherence rates are low. Different screening options are being developed with the idea that if people could choose between the ones that best suit them, participation in population-based screening programs would increase. Blood tests, such as a recent one that detects cell-free DNA shed by tumors called circulating tumor DNA, showed a similar accuracy rate to stool tests for cancer, but were less sensitive for advanced precancerous lesions. At the time when the crosstalk between the immune system and cancer was being established as a new hallmark of cancer, novel immune system-related biomarkers and information on patients' immune parameters, such as cell counts of different immune populations, were studied for the early detection of colorectal cancer, since they could be effective in asymptomatic people, appearing earlier in the adenoma-carcinoma development compared to the presence of fecal blood. sCD26, for example, detected 80.37% of advanced adenomas. To reach as many eligible people as possible, starting at an earlier age than current programs, the direction could be to apply tests based on blood, urine or salivary fluid to samples taken during routine visits to the primary health system.
Topics: Humans; Colorectal Neoplasms; Early Detection of Cancer; Colonoscopy; Mass Screening; Biomarkers, Tumor; Occult Blood; Feces; Adenoma
PubMed: 38947291
DOI: 10.3748/wjg.v30.i22.2849