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BACKGROUND: Adjunctive clindamycin use is associated with survival in invasive group A streptococcus (GAS) infections but increasing clindamycin resistance in GAS has called into question its durability for this indication. Linezolid also inhibits GAS toxin and virulence factor production, but clinical efficacy data remain sparse. METHODS: We retrospectively emulated a target multicentre, non-blinded, non-inferiority trial to assess the efficacy of adjunctive linezolid compared with clindamycin in adult inpatients with invasive GAS infection treated with a ß-lactam using the PINC AI database between 2016 and 2021. Patients were eligible if they had a monomicrobial GAS culture and received adjunctive therapy within 3 days of culture either concurrently or after ß-lactam initiation and completed at least 3 days of ß-lactam therapy. The primary outcome was adjusted risk ratio (aRR) of in-hospital mortality assessed by overlap-weighting using propensity scores. Secondary outcomes were length of stay among survivors and Clostridium difficile infection. FINDINGS: Of 1095 ß-lactam-treated patients with GAS, 829 (76%) received clindamycin and 266 (24%) received linezolid. In the overlap weighted cohort, the receipt of linezolid was not associated with a statistically significant different aRR of in-hospital mortality compared with clindamycin (linezolid: 9·8% [26/266] vs clindamycin: 7·0% [58/829]; aRR: 0·92 [95% CI 0·42 to 1·43]; p=0·76). The risk difference was -0·005 (95% CI -0·05 to 0·04; p=0·81) and fell within the non-inferiority margin of 0·05. The primary analysis results were consistent across important subgroups and sensitivity analyses. Among survivors, median length of stay (adjusted ratio 0·96 [95% CI 0·16 to 0·08]; p=0·47) and C difficile infection risk (aRR 1·76 [95% CI 0·37 to 1·75]; p=0·29) were not statistically significantly different between the two groups. INTERPRETATION: In this emulated trial of adult patients with invasive GAS infections treated with ß-lactam, linezolid appeared non-inferior to clindamycin suggesting linezolid as an alternative for adjunctive antitoxin therapy. FUNDING: The Intramural Research Program of the US National Institutes of Health Clinical Center and the National Institute of Allergy and Infectious Disease.
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Calciphylaxis, also known as Calcific uremic arteriolopathy (CUA), is a serious disorder that presents with skin necrosis due to calcification of dermal and subcutaneous adipose tissue capillaries and arterioles. The condition occurs primarily in patients with end-stage renal disease (ESRD) on dialysis, and it carries high morbidity and mortality, primarily due to sepsis, with an estimated six-month survival of approximately 50%. Although there are no high-quality studies to guide the optimal treatment approach for patients with calciphylaxis, many retrospective studies and case series support treatment with sodium thiosulfate (STS). Despite the frequent use of STS as an off-label treatment, data regarding its safety and efficacy are limited. STS has generally been considered a safe drug with mild side effects. However, severe metabolic acidosis associated with STS is a rare and life-threatening complication of STS treatment and is often unpredictable. Herein, we report a 64-year-old female with ESRD on peritoneal dialysis (PD) who presented with a profound high anion gap metabolic acidosis and severe hyperkalemia while on STS treatment for CUA. No other etiology for her severe metabolic acidosis other than STS was identified. ESRD patients receiving STS should be monitored closely for this side effect. Dose reduction, increasing the duration of infusion, or even discontinuing STS treatment should be considered if severe metabolic acidosis develops.
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Acidosis , Calcifilaxia , Fallo Renal Crónico , Tiosulfatos , Femenino , Humanos , Persona de Mediana Edad , Calcifilaxia/diagnóstico , Calcifilaxia/tratamiento farmacológico , Calcifilaxia/etiología , Diálisis Renal/efectos adversos , Estudios Retrospectivos , Fallo Renal Crónico/complicaciones , Fallo Renal Crónico/terapia , Acidosis/etiologíaRESUMEN
Tuberculosis (TB) originating from expatriates that hail from high TB-burden countries is hypothesized to play a role in continued TB transmission in Oman. Here, we used whole-genome sequencing (WGS) to assess national TB transmission dynamics. The annual incidence per 100,000 population per year was calculated for nationals and expatriates. A convenience sample of Mycobacterium tuberculosis (MTB) isolates from 2018 to 2019 was sequenced and analyzed with publicly available TB sequences from Bangladesh, Tanzania, the Philippines, India, and Pakistan. Relatedness was assessed by generating core-genome single nucleotide polymorphism (SNP) distances. The incidence of TB was five cases per 100,000 persons in 2018 and seven cases per 100,000 persons in 2020 (R2 = 0.34, P = 0.60). Incidence among nationals was 3.9 per 100,000 persons in 2018 and 3.5 per 100,000 persons in 2020 (R2 = 0.20, P = 0.70), and incidence among expatriates was 7.2 per 100,000 persons in 2018 and 12.7 per 100,000 persons in 2020 (R2 = 0.74, P = 0.34). Sixty-eight local MTB isolates were sequenced and analyzed with 393 global isolates. Isolates belonged to nine distinct spoligotypes. Two isolates, originating from an expatriate and an Omani national, were grouped into a WGS-based cluster (SNP distance < 12), which was corroborated by an epidemiological investigation. Relatedness of local and global isolates (SNP distance < 100) was also seen. The relatedness between MTB strains in Oman and those in expatriate countries of origin can aid inform TB control policy. Our results provide evidence that WGS can complement epidemiological analysis to achieve the End TB strategy goal in Oman. IMPORTANCE Tuberculosis (TB) incidence in Oman remains above national program control targets. TB transmission originating from expatriates from high TB-burden countries has been hypothesized to play a role. We used whole-genome sequencing (WGS) to assess TB transmission dynamics between expatriates and Omani nationals to inform TB control efforts. Available Mycobacterium tuberculosis isolates from 2018 to 2019 underwent WGS and analysis with publicly available TB sequences from Bangladesh, the Philippines, India, and Pakistan to assess for genetic relatedness. Our analysis revealed evidence of previously unrecognized transmission between an expatriate and an Omani national, which was corroborated by epidemiological investigation. Analysis of local and global isolates revealed evidence of distant relatedness between local and global isolates. Our results provide evidence that WGS can complement classic public health surveillance to inform targeted interventions to achieve the End TB strategy goal in Oman.
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Non-tuberculous mycobacteria (NTM) are ubiquitous organisms in the environment that can potentially cause a range of pulmonary and extrapulmonary infections in humans. Epidemiological risk factors and the host's immune status determine the susceptibility to various clinical syndromes caused by different NTM species. Non-tuberculous mycobacteria pulmonary disease (NTM-PD) is primarily reported in patients with underlying lung disease. These infections often pose a significant disease burden on affected patients as they are often chronic, difficult to treat, and necessitate long-term multi-drug therapy. Mycobacterium avium complex (MAC) is the most common causative pathogen of NTM-PD in the USA, followed by Mycobacterium kansasii (M. kansasii). Less common species in the USA include Mycobacterium xenopi (M. xenopi), Mycobacterium abscessus, and others, largely depending upon the geographic location and exposure to species-specific predisposing risks. In this case series, the authors report on three elderly patients with chronic lung diseases who had pulmonary NTM disease caused by M. xenopi and MAC. The patients were encountered in both inpatient and outpatient settings from a community-based hospital in the midwestern USA. The clinical and radiological features of NTM-PD masqueraded as malignancy and posed a diagnostic dilemma. The epidemiology, clinical and radiological features, diagnosis, and management of NTM-PD are reviewed in this report.
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Norovirus (NoV) is one of the most common causes of acute infectious gastroenteritis in the United States (US). The infection is typically short-lasting and self-limiting in immunocompetent hosts. Renal transplant recipients on immunosuppressive therapy are more prone to infectious gastroenteritis that can be caused by various common and opportunistic organisms. NoV infection in renal transplant patients presents as an acute diarrheal illness that may progress to a chronic infection with frequent relapses leading to adverse short-term complications (acute renal injury (AKI) and acute graft rejection from the reduction of the dose of immunosuppressive medications) and possibly long-term morbidities (malabsorption syndrome, and a decline in graft survival). The management of chronic NoV infections in renal transplant patients may be quite challenging, as no specific antiviral treatment is presently approved, and frequent adjustments of immunosuppressive therapy may be required in the setting of reduced renal clearance and the attempts to decrease immunosuppressive effects to enhance the viral clearance.Herein, the authors present a case of persistent NoV in a young female patient with a renal transplant that was associated with recurrent admissions with AKI, gross electrolyte disturbances, and significant weight loss. The relapsing NoV infection has negatively impacted the patient's quality of life and socioeconomic performance.
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Osteoarticular infections (OAIs) caused by Gemella morbillorum (G. morbillorum) are a rare clinical entity. This study aimed to review all published cases of OAI due to G. morbillorum. A systematic review of PubMed, Scopus, and Cochrane Library was conducted to report the demographic and clinical characteristics, microbiological data, management, and outcome of OAIs caused by G. morbillorum in the adult population. A total of 16 studies reporting on 16 patients were included in this review. Eight patients had arthritis and eight patients had osteomyelitis/discitis. The most reported risk factors were immunosuppression, poor dental hygiene/dental infections, and recent gastrointestinal (GI) endoscopy. Five cases of arthritis occurred in a native joint while three patients had prostheses. The potential source of G. morbillorum infection was documented in more than half of the cases (56%) (most commonly odontogenic and GI sources (25% and 18%, respectively). The knee and hip joints were the most frequently affected joints in patients with arthritis, while the thoracic vertebrae were the most common sites for osteomyelitis/discitis. The blood cultures were positive in three patients with arthritis (37.5%) and five patients with osteomyelitis/discitis (62.5%). Associated endovascular infection was found in five patients with bacteremia. Contiguous spread (adjacent mediastinitis) was documented in two patients with sternal osteomyelitis and thoracic vertebral osteomyelitis. Surgical interventions were performed for 12 patients (75%). Most strains of G. morbillorum were susceptible to penicillin and cephalosporins. All patients with reported outcomes had achieved complete recovery. G. morbillorum is an emerging pathogen for OAIs in certain susceptible populations with specific risk factors. This review reported the demographic, clinical, and microbiological features of OAIs caused by G. morbillorum. A careful evaluation of an underlying infectious focus is warranted to control the source. When G. morbillorum bacteremia is present, it is also necessary to have a high index of suspicion to rule out an associated endovascular infection.
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Percutaneous endoscopic gastrostomy (PEG) is a relatively safe procedure that represents an important supportive adjunctive component for patients with primary head and neck squamous cell carcinoma (HNSCC). The HNSCC population is considered a high-risk group for developing critical nutritional deficiency due to a multitude of factors. Nevertheless, as the use of PEG in modern practice is gaining more popularity due to various indications, unusual complications have been increasingly reported. PEG site metastasis from primary HNSCC has emerged as a rare, yet serious oncological phenomenon that warrants careful consideration. The authors report an unusual case of squamous cell carcinoma (SCC) of the hypopharynx that metastasized to the gastric body mucosa through a PEG site. The metastatic SCC presented as massive gastrointestinal bleeding, and esophagogastroscopy revealed an ulcerated mass in the gastric body masquerading as a primary gastric adenocarcinoma. Histopathology and immunohistochemistry examination confirmed metastatic SCC which concurred with the patient's primary hypopharyngeal SCC. The review of the updated literature revealed that a total of 121 cases of this rare oncological entity have been reported to date. Physicians need to be vigilant of the symptoms of PEG site metastasis to accurately diagnose and manage the care of this rare occurrence as it is associated with poor prognosis.
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Intracranial hemorrhage, including subarachnoid hemorrhage (SAH), is associated with many cardiac effects, including cardiac rhythm abnormalities, ischemic electrocardiographic (ECG) changes, elevated cardiac troponin levels, and regional wall motion abnormalities on echocardiogram. About 40% of patients with SAH demonstrate increased serum markers for myocardial necrosis. Approximately 10% of patients with SAH demonstrate left ventricular (LV) wall motion abnormalities; a subset of these patients will have irreversible myocardial damage, but most regain LV function in several weeks. Cardiac effects of SAH are thought to be a result of an imbalance of the autonomic nervous system with resultant increased catecholamine effect on the myocardial cells rather than due to preexisting coronary artery disease. These cardiovascular complications carry a prognostic significance in patients with SAH and can also be misdiagnosed as primary cardiac problems and delay the diagnosis of SAH. Herein, we present a case of a 68-year-old female who presented to the emergency department with acute onset of upper back and neck pain. She was initially misdiagnosed with myocardial infarction in view of the ischemic changes in the ECG and elevated cardiac troponins. She was started on antiplatelets and anticoagulation but was later found to have a negative coronary angiography and was diagnosed with SAH via a computed tomography (CT) scan. Intracranial hemorrhage can be associated with elevated cardiac enzymes and ECG changes and can sometimes masquerade as an acute coronary syndrome (ACS). A careful history and examination and a high index of clinical suspicion are pivotal in such cases since early diagnosis significantly impacts prognosis and prevents the inadvertent use of antiplatelets and anticoagulation, which can be detrimental if used in such cases.
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Granulomatous mastitis (GM) is a rare benign breast disease that affects women of childbearing age, usually within five years of pregnancy. The hallmark diagnostic feature of GM is the presence of lobular granulomatous inflammation. The occurrence of this clinicopathological entity is usually idiopathic. Nevertheless, GM has often been associated with systemic inflammatory conditions of either infectious (such as tuberculosis) or autoimmune etiology (particularly sarcoidosis, vasculitis, and less likely systemic lupus erythematosus [SLE]). In this report, the authors described an unusual case of GM that was associated with features of SLE in a young female patient who presented with a painful breast lump. Histopathological examination of the lump's biopsy showed GM. Further laboratory workup revealed evidence of some immunological criteria of SLE. Steroid therapy led to the resolution of the patient's breast swelling. The breast mass remained in remission with hydroxychloroquine treatment. Only a handful of similar cases in the current literature demonstrated a plausible association between SLE and GM. Our case provides a reference to consider SLE as a possible differential diagnosis when GM is encountered in young-aged female patients.
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BACKGROUND: There is no clear consensus on the preference for pharmacological cardioversion (PC) in comparison to electric cardioversion (EC) for hemodynamically stable new-onset atrial fibrillation (NOAF) patients presenting to the emergency department (ED). METHODS: A systematic review and meta-analysis was conducted to assess PC (whether being followed by EC or not) vs. EC in achieving cardioversion for hemodynamically stable NOAF patients. PubMed, PubMed Central, Embase, Scopus, and Cochrane databases were searched to include relevant studies until 7 March 2022. The primary outcome was the successful restoration of sinus rhythm, and secondary outcomes included emergency department (ED) revisits with atrial fibrillation (AF), hospital readmission rate, length of hospital stay, and cardioversion-associated adverse events. RESULTS: A total of three randomized controlled trials (RCTs) and one observational study were included. There was no difference in the rates of successful restoration to sinus rhythm (88.66% vs. 85.25%; OR 1.14, 95% CI 0.35-3.71; n = 868). There was no statistical difference across the two groups for ED revisits with AF, readmission rates, length of hospital stay, and cardioversion-associated adverse effects, with the exception of hypotension, whose incidence was lower in the EC group (OR 0.11, 95% CI 0.04-0.27: n = 727). CONCLUSION: This meta-analysis suggests that there is no difference in successful restoration of sinus rhythm with either modality among patients with hemodynamically stable NOAF.
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Nephrogenic ascites or dialysis-associated ascites is a rare condition that develops in patients with end-stage renal disease (ESRD) who have been on long-term hemodialysis. It is characterized by rapidly accumulating ascites that is often recurrent and resistant to standard treatment. The diagnosis typically requires the exclusion of common causes of ascites including possible hepatic, cardiac, malignant, and infectious etiologies. Nephrogenic ascites generally has a poor prognosis. Renal transplantation is the sole definitive cure for this difficult-to-treat clinical entity, however, majority of the affected patients are usually deemed unsuitable candidates for transplantation. In this communication, the authors presented a rare case of nephrogenic ascites that posed a therapeutic challenge in an ESRD patient on regular hemodialysis along with a brief review of the literature regarding the pathogenesis, clinical features, and outcome of nephrogenic ascites.
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BACKGROUND AND AIMS: Immune thrombocytopenic purpura (ITP) is an acquired bleeding disorder characterized by autoantibodies against platelets. The clinical presentation is variable; the main symptom is bleeding, and many patients are asymptomatic; others have nonspecific symptoms like fatigue. Uncommonly, ITP can present with paradoxical thrombosis. The risk of thrombosis in ITP may be higher than expected, which makes the management of ITP more challenging. This review aims to evaluate patients with ITP who develop thrombosis and identify potential risk factors related to thrombosis in this category of patients. MATERIALS AND METHODS: English literature was searched using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines for adults above 18 years with primary ITP who had infarctions or thrombotic events. Patients with secondary ITP were excluded. The search included articles published up to 20th October 2021. RESULTS: A total of 73 articles were included. Seventy-seven patients with ITP had developed infarctions and various thrombotic events. Sixty-three patients had arterial events, and 14 patients developed venous thrombotic events. CONCLUSION: Patients with ITP have low platelets, which predispose them to bleed; despite that, serious thrombotic complications can happen in these patients and are difficult to predict. Therefore, it is critical for physicians to understand that ITP is paradoxically a prothrombotic condition and to address preventive thromboembolic measures whenever possible.
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Nivolumab is a humanized monoclonal anti-programmed cell death receptor-1 (PD-1) antibody that has been authorized for use in the treatment of advanced malignancies. Cutaneous reactions are the most common immune-related adverse events reported with anti-PD-1 agents, and they range broadly from mild localized reactions to rarely severe or life-threatening systemic dermatoses. The occurrence of Steven-Johnson syndrome (SJS) or toxic epidermal necrolysis (TEN) with nivolumab use is an exceedingly rare phenomenon that was only documented in a handful of cases in the current literature, but it deserves careful attention as SJS/TEN may be associated with fatal outcomes. We present a case of nivolumab-induced SJS/TEN in a middle-aged female patient with metastatic gastric adenocarcinoma that was successfully treated with immunosuppressive therapy and supportive care. Prompt recognition of SJS/TEN with discontinuation of nivolumab is warranted when SJS/TEN is suspected clinically. Multidisciplinary management in a specialized burn unit is the key to improving outcomes of SJS/TEN.
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Percutaneous vertebroplasty has emerged as an increasingly popular intervention for managing a variety of common spinal conditions. Nevertheless, kyphoplasty cement can accidentally leak into paravertebral venous plexus, then travel to the right heart chambers through the venous system. We report an exceedingly rare case of an intracardiac cement embolism, likely an inadvertent complication of a recent percutaneous lumbar vertebroplasty. A mobile mass was incidentally found during a cardiac catheterization procedure, most likely in right atrium. Subsequent computed tomography angio chest and cardiac imaging confirmed a floating foreign body in the right atrium, which was then retrieved successfully through an endovascular approach. Gross examination of the removed body confirmed a bone cement-like material. Intracardiac cement embolism warrants serious attention as it may result in catastrophic cardiac complications. Learning objective: Intracardiac cement embolism is an extremely rare, but potentially life-threatening complication after percutaneous vertebroplasty. The bone cement fragments accidentally leak into paravertebral plexus and then via venous system into the right-sided cardiac chambers and pulmonary arteries.
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QT prolongation is present in 26-52% of cases of Takotsubo cardiomyopathy (TCM). It has been postulated to result from reduced cardiac repolarization reserve and reflects the transient myocardial insult observed in TCM. Bradycardia-induced QT interval prolongation is amplified by the occurrence of TCM, a combination that potentially carries a significant risk for torsade de pointes (TdP). We present a unique case of an 80-year-old female with TCM-related cardiac arrest. The patient had acquired long QT syndrome in which TCM myocardial insult led to the precipitation of a third-degree atrioventricular (AV) block and subsequent bradycardia-induced TdP. Due to the lack of robust literature, there is no clear guideline in the management of third-degree AV block in the setting of TCM. In our case, because of recurrent ventricular tachycardia (VT) and ventricular fibrillation (VF) arrest, we opted for temporary pacing at a high ventricular rate, followed by a biventricular implantable cardioverter-defibrillator (BiV/ICD). Follow-up 3 months later revealed improvement of left ventricular (LV) dysfunction and resolution of QT prolongation. However, the noticed AV conduction defects persisted. In the available literature, we identified five reported cases that bear similarity with our patient's presentation. The identified cases were middle-aged to elderly females with no significant cardiac history, who exhibited a similar triad of TCM associated with high-grade AV block, acquired long QT syndrome, and a rapid progression of bradycardia-induced TdP, resulting in a near cardiac arrest within the first 24 - 48 h of admission. It is crucial to monitor corrected QT (QTc), correct electrolyte abnormalities, and minimize QT-prolonging medications in patients with TCM. The recognition of AV conduction defects in patients with TCM is critical, especially if it is associated with significant QT prolongation. Such situations are underrecognized, and are potentially fatal, necessitating close monitoring and timely intervention.
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We present a novel case of severe hyperosmolar hyperglycemic derangement in an elderly patient - without a known history of diabetes mellitus - after the first injection of leuprolide for the treatment of metastatic prostate adenocarcinoma. Whilst the available literature provided accumulative evidence of an association between insulin resistance and the use of gonadotropin-releasing hormone (GnRH) agonists, the initial presentation of leuprolide-induced impaired glycemic tolerance with a hyperosmolar hyperglycemic state (HHS) represents a clinical rarity that was seldom reported. A literature review was conducted to explore the underlying mechanisms of leuprolide-associated glucose intolerance. Screening for diabetes is recommended for patients receiving leuprolide therapy to identify at-risk patients and close glycemic monitoring is warranted in diabetic patients to minimize serious complications from poor glycemic control induced by leuprolide.
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INTRODUCTION: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the viral agent responsible for the coronavirus disease of 2019. The disease is primarily a respiratory illness; however, multisystem involvement is not uncommon. The infection is reported to be more severe in patients with multiple comorbidities and immunocompromised patients. Patients with hematological malignancies are immunocompromised and prone to develop severe SARS-CoV-2 infection. The SARS-CoV-2 had developed several mutations that resulted in different strains with different virulence and different degree of protection by vaccination or prior infection. The Omicron variant is reported to cause mild illness; however, the effect on patients with hematological malignancies like myeloproliferative neoplasms (MPNs) is not clear. We present patients with MPNs who had infection with the Omicron variant of the SARS-CoV-2 and their outcomes. METHODS: Retrospective data from the National Center for Cancer Care and Research records from December 20, 2021, to January 30, 2022. Participants were adults over the age of 18 years with Omicron infection who had been diagnosed with Philadelphia-negative MPNs, essential thrombocythemia, polycythemia vera (PV), and primary myelofibrosis according to the 2008/2016 WHO classification for MPN. RESULTS: Twenty-two patients with Philadelphia-negative MPN had Omicron infection. All patients had a mild disease according to the WHO classification of COVID-19 severity. Most of the patients had medical comorbidities, with hypertension being the most common comorbidity. However, only one patient with PV required hospitalization. DISCUSSION/CONCLUSIONS: In patients with Philadelphia-negative MPN, the Omicron variant of SARS-CoV-2 usually results in mild infection.
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COVID-19 , Trastornos Mieloproliferativos , Policitemia Vera , Adulto , Humanos , Persona de Mediana Edad , Trastornos Mieloproliferativos/diagnóstico , Trastornos Mieloproliferativos/genética , Trastornos Mieloproliferativos/patología , Estudios Retrospectivos , SARS-CoV-2RESUMEN
Antibiotic-associated diarrhea (AAD) describes any unexplained diarrhea associated with the use of antibiotics. AAD develops through diverse mechanisms, ranging from pharmacologic effects on gut motility to disturbance of the function and carbohydrate metabolism of the indigenous intestinal flora and overgrowth by pathogenic micro-organisms. Clostridioides difficile-associated diarrhea (CDAD) is a subset of AAD; however, it accounts only for a small percentage of diarrhea caused by antibiotics. Diarrhea has been reported as a side effect of daptomycin use, nevertheless, it's thought to be mild and carries significantly less risk of diarrhea than other alternative treatments of S. aureus bacteremia, i.e., vancomycin or cefazolin. The authors present an interesting case of daptomycin-associated diarrhea presenting with a protracted and severe course. Patient symptoms didn't improve with empiric Clostridioides difficile therapy and CDAD testing was negative. Diarrhea promptly resolved after discontinuation of daptomycin. Furthermore, a thorough literature review was conducted and discussed in this article to raise awareness of this under-recognized complication. Clinicians should be mindful of daptomycin-associated diarrhea along with its presentation and treatment. Further studies are needed to identify the pathophysiology of daptomycin-associated diarrhea and other forms of AAD. Understanding their mechanism could help prevent, treat, and reduce the significant medical costs associated with antibiotic adverse events.
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The vulnerability of chromosome 22q11.2 region to rearrangement is due to several low copy repeat (LCR) sequences. These rearrangements are involved in syndromes that share similar phenotypic features. The rearrangements of the 22q11.2 chromosomal region are common, specifically, duplications and deletions associated with congenital anomalies and developmental disabilities disorders. However, the features associated with this chromosomal rearrangement remain largely unknown. We present, to the best of our knowledge, the third patient affected by triplication of the 22q11.2 chromosome region, who presents with Peters anomaly, global developmental delay, patent ductus arteriosus, and subaortic stenosis. This case highlights a new phenotypic feature associated with triplication of this genomic region.
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Actinomycosis is a chronic inflammatory infectious disease that can affect various organ systems. Pulmonary actinomycosis is an exceptionally uncommon clinical occurrence that yet deserves special attention, as it closely mimics a broad spectrum of infectious and neoplastic lung pathologies. The non-specific nature of its clinical features and radiological appearances makes early diagnosis quite challenging. The authors reported a 25-year-female with poorly controlled diabetes mellitus and morbid obesity who presented with a one-week history of unilateral, right-sided, pleuritic chest pain and shortness of breath. Chest imaging revealed a suspicious right hilar soft tissue mass encasing the right upper lobe bronchus with post-obstructive atelectasis. Transbronchial biopsy revealed suppurative granulomatous inflammation, and anaerobic cultures from the bronchial tissues grew Actinomyces species that were identified using the matrix-assisted laser desorption/ionization-time of flight (MALDI-TOF) technique. A long course of penicillin-based antibiotics was employed, and follow-up imaging revealed a satisfactory response to the antimicrobial therapy. This case demonstrates that microbiological examination is imperative to accurately diagnose the etiology of suspicious lung masses in young immunocompromised hosts. It also proves the diagnostic value of the MALDI-TOF technique in the early identification of Actinomyces species.