Search

The incidence or prevalence of Lyme arthritis (LA) in Denmark is unknown and assumed very low. No published cases of polymerase chain reaction (PCR)-confirmed LA from Denmark exist. Clinically, LA does not differ from other rheumatic oligoarthritic disorders posing a differential diagnostic challenge. To review the incidence and prevalence of LA to our knowledge and to present a case series of PCR-confirmed LA cases from Denmark. We conducted a systematic literature review via MEDLINE and EMBASE to explore incidence and prevalence rates of LA. Additionally, we present six cases of patients diagnosed with LA in Denmark. Our literature review identified 23 studies reporting prevalence or incidence, yet only ten studies provided estimates ranging from 1.1 to 280/100.000 in the general population. Our case series identified six patients with LA from a localized region in Southern Denmark; all confirmed by Borrelia-specific real-time PCR from synovial fluid. The diagnostic delay was up to 38 months. All patients except one had a history of previous tick bites; none had erythema migrans lesions. All presented with recurrent arthritis in the knee joint, and two had arthritis in the wrist. The literature review showed an incidence of LA ranging from 1.1 to 15.8 per 100.000 in Europe. Our case series suggests a potentially higher prevalence of LA in Denmark than previously believed. Lack of tick exposure history, antibody assessments and test of Borrelia burgdorferi sensu lato DNA in synovial fluid might lead to misdiagnosed cases potentially explaining the assumed low incidence of LA in Denmark. [ABSTRACT FROM AUTHOR]

Background: Post-streptococcal myalgia and myositis are very rare complications of streptococcal infections with group A β-haemolytic streptococci. Data on this condition are scarce and even less is known about findings in clinical imaging. Until today, there are no descriptions of ultrasonographic changes in this condition. Case presentation: We present a case of a 31-year-old female patient with immobilizing myalgia of the left outer thigh following a streptococcal upper respiratory tract infection, accompanied with erythemata nodosa on both shins. Laboratory results indicated post-streptococcal myositis since Creatine kinase, Lactate dehydrogenase and Antistreptolysin antibodies were significantly elevated. An ultrasound of the affected vastus medialis of the left quadriceps femoris muscle was performed, which showed a focal increase in muscle echogenicity with loss of architecture and hypervascularisation in Power Doppler Mode. The diagnosis of focal myositis was confirmed with magnetic resonance imaging. The patient's symptoms as well as the ultrasonographic changes fully resolved under therapy with Ibuprofen and intravenous Ampicillin/Sulbactam. Conclusions: This is the first description of ultrasound findings in this rare condition. We conclude that muscular ultrasound is helpful to identify myositis in post-streptococcal myalgia and myositis. [ABSTRACT FROM AUTHOR]

Background: Conjoined twins are a rare congenital anomaly with various types, depending on the connection site. Managing these cases requires a structured approach leading to separation surgery. This report provides a detailed description of the anesthetic strategies and challenges of pygopagous conjoined female twins who underwent 2 surgeries before separation at 17 weeks of age. Case Report: The female twins were conjoined at the sacral level (S4), with fused thecal sacs at L5 and cord tethering, with the conus terminating below L3 in both patients. They had separate rectal ampullae that fused into a single anal canal in the midline in a Y formation. The babies underwent 2 surgeries prior to separation: meningocele repair for twin B and anal canal dilation and sphincter mapping for both twins, followed by a ventriculoperitoneal shunt insertion for twin B. The separation surgery included dividing the bony vertebral fusions and dural sacs, untethering the spinal cords and nerves, and correctly allocating the intrapelvic muscles, guided by sphincter muscle mapping. Anesthesia was managed by 2 distinct teams each time, with duplicated equipment and color-coded medications to prevent errors. Due to the critical condition of twin B, general anesthesia was administered to her first. The report also addresses the challenges faced during the 3 surgical procedures. Conclusions: Anesthetic management for pygopagus twins presents complex challenges. Despite limited experience with similar cases, successful management was achieved through planning, effective communication, and rehearsal of unfamiliar setups. Attention to detail and involvement of highly experienced teams were crucial to the success of the procedures. [ABSTRACT FROM AUTHOR]

The aim of this case report is to show the hospital dental approach to a patient with Niemann-Pick disease (NPD) type B. After her caregivers reported poor oral health, a 10-year-old girl was referred to a hospital. She was diagnosed with NPD type B 4 years ago, with involvement of the brain, nerves, liver, spleen, bone marrow, and lungs. A dental physical examination revealed chronic carious lesions in ten teeth, as well as four residual roots and poor oral hygiene. We chose a surgical block treatment based on the altered complementary exams, dental demands, and the systemic compromise caused by NPD type B. All decayed elements were restored with glass ionomer cement, and residual roots were extracted. The patient had no clinical signs of infection or hemorrhage after 20 days of post-surgical follow-up. Although rare, the presence of patients with NPD type B in the dental routine can occur, necessitating the development of an individualized and multidisciplinary treatment plan. [ABSTRACT FROM AUTHOR]

AbstractIntroductionMethodsResultsDiscussionConclusionHydroxychloroquine has cardiac and cerebral sodium channel- and human ether-à-go-go-related gene (HERG) potassium channel-blocking effects. This causes depolarization delays, resulting in cardiovascular toxicity with potentially fatal consequences. Despite several supportive care options, hydroxychloroquine poisoning remains difficult to treat. Its high lipid solubility suggests that lipid emulsion therapy might be beneficial; however, no clear evidence regarding its efficacy is available. The aim of this review is to assess the evidence, the outcomes, and adverse events regarding the use of intravascular lipid emulsion therapy as a treatment for hydroxychloroquine poisoning.We conducted a systematic search in PubMed, Embase.com, Cochrane Central Register of Controlled Trials (CENTRAL)/Wiley, Web of Science Core Collection/Clarivate Analytics, and Scopus/Scopus.com from inception until 1 November 2023. We adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Inclusion criteria encompassed original observational or interventional studies, case series and case reports describing patients receiving lipid emulsion therapy for hydroxychloroquine toxicity. We extracted clinical data and performed a quality assessment of the included cases. We present the results as a narrative synthesis.Of 157 identified articles, 16 case reports met the inclusion criteria, reporting on 18 patients. Lipid emulsion therapy was always associated with additional treatments, and detailed information on the circumstances regarding the administration of intravenous lipid emulsion and its presumed effect was often lacking. Fifteen of 18 patients survived to hospital discharge. Some reports described clear and almost immediate clinical improvement after intravenous lipid emulsion administration. No clear adverse effects were reported.A limitation is the reliance on case reports, which varied in the degree of reported details. The administration of multiple therapeutic drugs in most cases made it difficult to attribute survival primarily to lipid emulsion. Publication bias may favour cases with successful outcomes.Among published case reports, most patients who received lipid emulsion for treatment of hydroxychloroquine poisoning survived. The risk of bias, the small number of reports, and the lack of systematic reporting of both favourable and adverse effects limit any conclusions about the effectiveness of lipid emulsion for hydroxychloroquine poisoning. [ABSTRACT FROM AUTHOR]

Chorea-acanthocytosis (ChAc) is an extremely rare neurodegenerative disorder characterized by movement disorders and acanthocytosis. Orofacial dyskinesia is a distinct symptom of this disorder that can lead to lip injuries and feeding difficulties. This paper reports the first case of a patient with ChAc presenting with a lip defect, who was managed with surgical and adjuvant onabotulinumtoxinA (BTX-A) therapy. A 43-year-old woman diagnosed with ChAc was referred to our clinic because of a 5× 5 mm lip defect resulting from orofacial dyskinesia. Wedge resection of the scar tissue was carried out, followed by reconstruction by suturing. Postoperatively, BTX-A injections were administered to ameliorate dyskinesia. Thirty units of BTX-A were injected into each masseter muscle, and 40 units were injected into the orbicularis oris muscle. At 1, 2, and 4 weeks after the injections, assessments were performed using the Abnormal Involuntary Movement Scale, and the patient's impression of change was assessed using the Global Rating of Change Scale. Subsequent adjuvant BTX-A treatment yielded subjective and objective improvements in orofacial dyskinesia. In conclusion, lip reconstruction and adjuvant BTX-A injections were effective in treating lip defects associated with orofacial dyskinesia in patients with ChAc, which highlights the need for a multimodal treatment approach. [ABSTRACT FROM AUTHOR]

This paper presents a novel approach to the correction of zygomatic malposition and secondary reconstruction orbital floor fractures, highlighting the use of hydrated acellular dermal matrix (ADM), specifically CGDerm One-Step, in a case where traditional solid implants failed to maintain structural integrity and volume. A 27-year-old woman with persistent facial deformities following a traumatic incident underwent a transformative procedure that utilized ADM for volume correction and structural support, addressing significant challenges such as enophthalmos and facial contour depression. This approach was necessitated by the descent of the entire orbital floor and a previously placed implant (Medpor), leading to unsatisfactory volume correction. By integrating ADM with titanium-reinforced fan plates (Synpor), the surgery successfully restored the patient's facial symmetry and addressed her functional concerns, including diplopia and limited eye movement. Postoperative evaluations demonstrated the long-term effectiveness of this method, with significant improvements in facial contour and eye symmetry. Our findings suggest that ADM, particularly in its hydrated form, offers a reliable alternative to traditional bone grafts and implants for correcting complex craniofacial deformities, providing both aesthetic and functional benefits. This case underscores the importance of adaptable, tissue-mimicking materials in facial reconstructive surgery, offering insights into their potential for broader application in post-traumatic facial corrections. [ABSTRACT FROM AUTHOR]

Septal perforation is an anatomical defect of the nasal septum that leads to impaired nasal function, including obstruction and respiratory issues. In this study, a novel surgical approach was introduced to address septal perforations, focusing on the use of costal composite chondro-perichondrial grafts bilaterally in a symmetric manner. This composite graft, composed of costal cartilage and perichondrium, provides mechanical support, aids vascularization, and minimizes perichondrial shrinkage. A case study of a 23-year-old patient with septal perforation resulting from multiple rhinoplasty procedures is presented. The surgical procedure involved the use of a composite graft to close the septal perforation and correct the nasal deformity. The postoperative results demonstrated successful septal perforation closure and relief from nasal discomfort. This study highlights the advantages of this method, particularly its simplicity and straightforward surgical procedures for closing septal perforations of various sizes, and its suitability for rhinoplasty surgeons who are familiar with costal cartilage harvesting. [ABSTRACT FROM AUTHOR]

The severe gummy smile and a skeletal class II profile pose challenges in treatment. This case report outlines an effective alternative for addressing these problems in a patient with skeletal class II division 2, class II molar relationship, retroclination of upper incisors, and lip protrusion. Treatment objectives included normalizing the overjet and overbite, improving the gummy smile, and establishing a satisfactory occlusion. A three-dimensional simulation was performed to consult with the patient, assess possible results, and predict treatment biomechanics. The treatment involved the use of two zygomatic and one inter-radicular temporary anchorage devices, along with botulinum toxin. After the 2-year follow-up, a satisfactory dental occlusion, aesthetic improvement, and adequate function were achieved. This approach offers a viable alternative to orthognathic surgery for adults with skeletal class II malocclusion and a severe gummy smile due to hypermobile lip. [ABSTRACT FROM AUTHOR]

Fever of unknown origin (FUO) can be caused by many factors and usually presents as a high fever without a clear diagnosis. Although some treatments may relieve symptoms, they do not stabilise the condition and relapses are commonly reported. In this case, a 20-year-old male complained of recurring high fever (around 39-40 degrees Celsius) without reason for over two years. He had been hospitalised many times without a clear diagnosis. Applying fang zheng 方证 differentiation, the patient was prescribed Chai Ling Tang (Bupleurum and Poria Decoction) combined with Wai Tai Fu Ling Yin (Poria Decoction) as well as Ban Xia Hou Po Tang (Pinellia and Magnolia Bark Decoction). After three months of medication, the patient’s temperature stabilised, his body weight slowly increased and his other symptoms also improved. [ABSTRACT FROM AUTHOR]

Copyright of Clinical Neuroscience / Ideggyógyászati Szemle is the property of LifeTime Media Kft. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: Rare coexistence of disease or pathology Background: Epithelial neoplasms are the most common and heterogenous group of ovarian tumors. Approximately 10- 15% are primary ovarian mucinous neoplasms. Almost 80% of these consist of benign mucinous neoplasms, while the rest are borderline neoplasms, non-invasive (intraepithelial and intraglandular) carcinomas, and invasive carcinomas. Small ovarian cystadenomas are generally asymptomatic and are mainly found incidentally during an ultrasound examination for another gynecologic disorder. As their size increases, nonspecific symptoms and clinical signs develop as a result of mass effect to adjacent structures or because of tumor torsion. The main clinical symptoms are abdominal and/or pelvic pain, fullness, and discomfort. Large cystadenomas have also been associated with nausea and vomiting, urinary problems, persistent cough, back pain, metrorrhagia, and feminization. Case Report: We report a case of a 31-year-old woman with a body mass index of 39 who presented with increasing sacrococcygeal pain and right leg paresthesia over a 2-year period. She was treated for possible musculoskeletal and spine problems. She was finally diagnosed with a large right ovarian mucinous cystadenoma expanding in the sacrococcygeal region. She was successfully treated with complete excision of the tumor and achieved complete remission of all her symptoms. Conclusions: Large ovarian mucinous cystadenomas, which develop in the sacrococcygeal region, can lead to symptoms that mimic musculoskeletal and spine problems. Early diagnosis is of great importance towards the goal of implementing proper therapeutic approaches and achieve complete remission of all clinical symptoms. [ABSTRACT FROM AUTHOR]

A case of pregnancy complicated with hemophagocytic syndrome (HPS) with fever combined with anemia as the first symptom was admitted to our hospital. The patient was 26 years old, 31+5 weeks pregnant, 3 pregnancies and 2 births.The patient experienced unexplained fever, anemia, and thrombocytopenia. After admission, extensive tests confirmed a diagnosis of secondary HPS, and she was treated with dexamethasone and intravenous immunoglobulin. Following consultations with the departments of hematology, obstetrics, and neonatology, it was determined that fetal lung maturation was complete. The patient underwent a lower segment cesarean section. Both the patient and the newborn were in good general condition postoperatively. The patient was then transferred to the hematology department for further treatment of HPS and underwent one course of treatment with dexamethasone and etoposide. A follow-up examination of her bone marrow, coagulation profile, and complete blood count showed good recovery, and she was discharged. The patient remained well at a two-week post-discharge outpatient follow-up. [ABSTRACT FROM AUTHOR]

Background: COVID-19 began in December 2019, rapidly spreading worldwide. China implemented a dynamic zero-COVID strategy and strict control measures after the outbreak. However, Guangzhou city ended closed-off management by the end of November 2022, leading to exposure to SARS-CoV-2. Despite most hospitalized patients being infected or co-infected with SARS-CoV-2, some remained uninfected. We report two cases of bacterial pneumonia with elevated globulin levels not infected with SARS-CoV-2, aiming to identify protection factors of SARS-CoV-2 infection and provide a scientific basis for SARS-CoV-2 prevention. Case presentation: Case 1, a 92-year-old male, admitted on October 21, 2022, developed worsening cough and sputum after aspiration, diagnosed with bacterial pneumonia with Pseudomonas aeruginosa, Escherichia coli (CRE) and carbapenem-resistant Acinetobacter baumannii (CRAB) infections. He was treated with imipenem anti-infective therapy and mechanical ventilation, then switched to a combination of meropenem, voriconazole and amikacin antiinfective therapy due to recurrent infections and septic shock, and died of sepsis on 8 January 2023. Case 2 is an 82-year-old male admitted on 30 September 2022, with recurrent cough, sputum, and shortness of breath, diagnosed with bacterial pneumonia with carbapenem-resistant Klebsiella pneumoniae (CRKP) and Mycobacterium pneumoniae infections. He was treated with ventilator-assisted ventilation, meropenem, amikacin, tigecycline and mucomycin nebulization and discharged with improvement on 26 October. He was readmitted on 21 November 2022 and diagnosed with bacterial pneumonia. He was treated with cefoperazone sulbactam, amikacin, meropenem and fluconazole and discharged on 31 December. Neither patient was infected with SARS-CoV-2 during hospitalization. Notably, their globulin levels were elevated before SARS-CoV-2 exposure, gradually decreasing afterward. Conclusions: Patients with bacterial pneumonia with high globulin levels likely have large amounts of immunoglobulin, and that immunoglobulin crossreactivity causes this protein to be involved in clearing SARS-CoV-2 and preventing infection. Therefore, bacterial pneumonia patients with high globulin levels included in this study were not infected with SARS-CoV-2. After exposure to SARS-CoV-2, the amount of globulin in the patient's body was reduced because it was used to clear SARS-CoV-2. The results of this study are expected to provide a theoretical basis for the study of the mechanism of prevention and treatment of SARS-CoV-2 infection. [ABSTRACT FROM AUTHOR]

Blastomycosis can result in lung injury with high mortality rates. The literature on veno-venous extracorporeal membrane oxygenation (VV-ECMO) used as a rescue therapy is limited to case reports and small case series collected over extended time periods. This report describes the clinical course and post-hospitalization outcomes among patients with blastomycosis-induced respiratory failure requiring VV-ECMO in the most recent time frame. The data were collected retrospectively from the health records of eight patients with blastomycosis-induced respiratory failure admitted to a tertiary care center between 2019 and 2023. The mean time from the start of mechanical ventilation to ECMO initiation was 57 h. All patients survived to ECMO decannulation, and seven of them survived to hospital discharge. All six patients whose post-discharge follow-up information was available were weaned from mechanical ventilation and lived at home while two required supplemental oxygen. This includes a case where the provision of adequate ECMO support was challenging due to the patient's morbid obesity. The most common residual imaging abnormalities included pulmonary infiltrates and pneumatoceles. The study demonstrates the feasibility of VV-ECMO as a rescue therapy in patients with blastomycosis-related refractory respiratory failure. Rapid initiation of ECMO support in eligible patients may have contributed to the good outcomes. [ABSTRACT FROM AUTHOR]

Background Methods Results Conclusions Key points Free gingival graft harvested from the palate is considered the most predictable method to augment the keratinized tissue (KT). However, the anatomical limitations of the palate, and associated patient morbidity and complications restrict clinicians from performing these procedures in adolescents. Color mismatch with the native tissues resulting in poor esthetic appearance is another concern. To overcome these limitations, this article reports a surgical approach known as labial gingival graft (LGG) as an alternative to palatal graft.Two adolescent patients presenting with absence of attached gingiva and shallow gingival recession in the mandibular incisor region were treated with LGG harvested from the labial KT of teeth adjacent to those requiring KT augmentation.The procedure was well tolerated by the patients. At the final follow‐up (3.5‐ and 2 years from baseline), a significant gain in KT with complete root coverage was achieved in both patients. Both professional and patient‐centered esthetic evaluations revealed excellent color match making the grafted area imperceptible from the adjacent mucosa.The proposed technique was found to be simple and predictable, and was associated with minimal morbidity and no complications. Clinicians may consider performing LGG procedure when sufficient KT can be harvested from adjacent donor site. The selection of such techniques is of particular relevance in children who are vulnerable to complications associated with more invasive procedures.Why are these cases new information? To the best of our knowledge, this article is the first to present the use of labial gingival graft harvested from adjacent keratinized mucosa in adolescent patients. What are the keys to successful management of these cases? Proper case selection in terms of sufficient amount of keratinized tissue to harvest as labial gingival graft from adjacent teeth. Use of smaller instruments, small‐sized needles, and sutures under magnification to minimize trauma to the tissues /graft. Preparation of an immobile periosteal bed and suturing protocol that minimizes the dead space and ensures revascularization of graft. What are the primary limitations to success in these cases? A prerequisite of the presence of thick gingiva and sufficient dimensions of KT around the adjacent teeth further limits its applicability in all cases. [ABSTRACT FROM AUTHOR]

With the development of assisted reproductive technology (ART), ovarian hyperstimulation syndrome (OHSS) as a main iatrogenic complication is also inevitable, which further increases the risk of ovarian torsion. The clinical symptoms and imaging characteristics of the patient with OHSS combined with ovarian torsion are relatively atypical, which means that the early identification and diagnosis of this acute abdomen is difficult. We report a case of OHSS combined with ovarian torsion before egg retrieval during ART treatment. The conservative treatment after egg retrieval was ineffective, and ultimately surgical treatment was still inevitable. This case suggests that the understanding of OHSS complicated with ovarian torsion should be strengthened during ART treatment, so as to achieve the early identification, early diagnosis and early treatment of this acute abdomen. [ABSTRACT FROM AUTHOR]

Coxiella burnetii (C. burnetii) can cause asymptomatic infections and acute, chronic, or localized manifestations affecting multiple organs. Doxycycline is the most effective treatment for Q fever. We report two cases of localized C. burnetii infections with no evident epidemiological link. Case reports: We present the case of a 51-year-old male patient admitted for low fever, dry cough, and malaise. The physical examination was unremarkable except for painful hepatomegaly. He was diagnosed with a liver abscess based on inflammatory markers, positive serology for C. burnetii, and abdominal computed tomography (CT) showing a large lesion (112/86/93 mm) within the right liver lobe. Blood cultures and the fluid obtained by percutaneous catheter drainage were negative. After 28 days of treatment with doxycycline, he was discharged well. At the three-month reevaluation, blood tests were normal, and a CT scan showed a minimal residual lesion. The second case was an 81-year-old female with many comorbidities, almost simultaneous acute ischemic stroke, and double-valve (native and prosthetic) infective endocarditis (IE). C. burnetii infection was confirmed by high titers of antibodies (phase I and II IgG), most probably the direct cause of both manifestations. These two cases presented with very rare manifestations of C. burnetii infections, highlighting its diagnostic difficulties. Conclusions: A clear distinction between acute and chronic Q fever is difficult in rare localized infections, as are organ abscesses. Coxiella burnetii may cause stroke and infective endocarditis, especially in the elderly. Even in the absence of epidemiological clues, in patients with localized infections, the C. burnetii etiology should be considered. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Perianal alveolar rhabdomyosarcoma is a rare sarcoma that requires a high index of suspicion along with tissue biopsy for accurate diagnosis. Successful treatment, even in the setting of recurrence, requires a multidisciplinary approach. [ABSTRACT FROM AUTHOR]

Key Clinical Message: This report presents a rare case of invasive infection caused by Enterococcus cecorum. There are no specific guidelines regarding antibiotic therapy for this infection. Based on this case, it can be concluded that linezolid demonstrates in vivo activity against Enterococcus cecorum and can be successfully used in therapy. Enterococcus cecorum is an extremely rare pathogen in humans. Since 1984, when the microorganism was first described, only a dozen cases of invasive infections in humans have been reported in the literature. The diagnostic pathway may involve difficulties in correctly identifying this microorganism. Based on the case described, it can be thought that Enterococcus cecorum is a more challenging bacterium than the much more common Enterococcus faecium or Enterococcus faecalis. The described case underscores the importance of medical vigilance in clinical practice. It seems that due to increasingly advanced techniques in molecular biology, we will more frequently detect pathogens that were previously encountered only sporadically. Since not every center has access to modern and advanced microbiological diagnostic methods, publications that practically combine classical microbiological diagnostic methods with those less accessible but more modern are exceptionally valuable. In the case described, it is also worth noting that classical methods still play a significant and crucial role in conducting microbiological diagnostics. In the era of rapid diagnostic tool development, it is important to emphasize the necessity of combining different methods rather than replacing one with another. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Several electrocardiographic alterations due to hypokalemia have been described, but the electrocardiographic presentation meeting criteria for occlusion of the left main coronary artery is very rare. We describe a case of hypokalemia simulating it. [ABSTRACT FROM AUTHOR]

Objective: This study aimed to assess the prevalence and types of oral adverse events following immunization (AEFIs) in people who received at least one dose of any type of vaccine. Materials and Methods: We conducted a bibliographic search about oral AEFIs in MEDLINE, Embase, PubMed, and Ovid from database inception to November 07, 2022. Risk of bias was assessed using the MURAD or the Quality In Prognosis Studies tools. Random‐effects proportional meta‐analysis was applied. Results: A total of 119 studies involving 343 people were eligible. These reported AEFIs occurred following administration of the coronavirus disease 2019 vaccine, anti‐influenza vaccine, hepatitis B vaccine, and anti‐smallpox vaccine. The most common to be affected in vaccinated people were buccal mucosa (63.1%; 95% confidence interval (CI) 33.4–88.2) and lips (55.7%; 95% CI, 41.1–69.8). The most prevalent oral AEFIs were ulceration (55.2%; 95% CI 24.4–84.0), swelling (65.2%; 95% CI 34.9–89.8), and burning sensation (18.3%; 95% CI 7.9–31.8). Conclusions: The mechanisms underlying oral AEFIs should be further investigated to promptly recognize oral manifestations and provide optimal management for people undergoing vaccination. [ABSTRACT FROM AUTHOR]

Objective: Unusual clinical course Background: Human herpesvirus-8 (HHV-8)-associated diffuse large B-cell lymphoma, not otherwise specified (DLBCL, NOS), is a rare form of lymphoid malignancy. It poses unique challenges in diagnosis in the setting of human immunodeficiency virus (HIV) infection and concomitant multiorgan dysfunction. Case Report: We describe the case of a 26-year-old man who initially presented with pre-syncope and was found to have HIV, with a CD-4 count of 20 cells/μL. His initial clinical presentation was significant for nonspecific symptoms, isolated anemia, and bilateral pleural effusions without gross lymphadenopathy, which was initially attributed to acute HIV infection. However, his hospital course was complicated by anasarca, renal failure, liver dysfunction, pancytopenia, and microscopic hematuria, which required a more comprehensive diagnostic evaluation. Progressive pancytopenia prompted a bone marrow biopsy, which ultimately revealed HHV-8-associated DLBCL, NOS (HDN). We describe his complicated hospital course and eventual diagnosis of HDN. This patient's broad differential diagnoses and overlap among various clinical syndromes posed a significant diagnostic challenge. Additionally, his multiorgan failure limited his treatment options. Conclusions: The management of HHV-8-associated DLBCL, NOS is complex, requiring a multifaceted approach to ensure prompt diagnosis and treatment, especially given difficulty in arriving at an accurate diagnosis due to the significant overlap with other lymphoproliferative disorders and lack of standardized treatment. We highlight the challenges and paucity of data available for management of HDN in the context of a diagnostically challenging case. We discuss the current limitations in diagnosis and treatment of this rare malignancy and the necessity of further investigation, especially in medically complex patients. [ABSTRACT FROM AUTHOR]

Background. Granulomatous peritonitis is a rare postoperative complication caused by a delayed hypersensitivity reaction to foreign substances. It can be challenging to diagnose owing to its vague presentations, and its possibility is often overlooked. Tubercular peritonitis and peritoneal carcinomatosis are the 2 crucial differential diagnoses that need to be taken into account. However, making a clinical differentiation between these 2 entities is challenging and necessitates a careful histopathological and microbiological analysis. Case Presentation. In this report, we present the case of a 28-year-old female who developed granulomatous peritonitis following a right ovarian cystectomy. The diagnosis was confirmed by histopathological examination. Conclusion. We must be aware of this rare entity, which, if left untreated, could have serious consequences, and consider its possibility in cases where the patient complains of abdominal pain after any abdominal procedure. We hope to provide insights into the importance of histopathological examination in aiding a confirmatory diagnosis of this entity. [ABSTRACT FROM AUTHOR]

Rheumatoid arthritis (RA) is a common chronic autoimmune disease characterized by symmetrical polyarthritis, joint pain, and morning stiffness. It significantly impairs physical condition and increases the risk of functional disability. While conventional treatments include drug therapy, many patients continue to experience symptoms and seek alternative therapies to improve their condition. This article describes two clinical cases of RA patients treated with a comprehensive rehabilitation program, including moderate-intensity walking, yoga, and nutritional therapy. The study aimed to evaluate this approach's effectiveness in improving the patients' functional capacity and quality of life. The first patient (50 year-old female) noted a significant reduction in the number of painful joints (by 14) and swollen joints (by 12) after a three-month rehabilitation course. The visual analog scale (VAS) pain level decreased from 80 mm to 50 mm, and the duration of morning stiffness decreased from several hours to 80 min. The second patient (45 year-old female) also showed improvement: painful joints decreased from 13 to 2, and swollen joints from 7 to 1. VAS pain level decreased from 80 mm to 40 mm, and morning stiffness decreased by 50 min. Both patients reported an average reduction in excess weight by 1.65 kg/m², along with improvements in general well-being and mood. The results confirm that a comprehensive rehabilitation approach, including physical activity, yoga, and diet therapy, significantly improves the condition of RA patients. This approach helps reduce pain, decrease the number of inflamed joints, and improve overall functionality. Further studies with a larger sample are needed to determine the optimal rehabilitation strategies and the most impactful interventions. [ABSTRACT FROM AUTHOR]

Importance: This is the first reported case of fragrance products-induced recurrent oxidative hemolytic anemia in a dog, detailing the successful therapeutic approach employed. Case Presentation: A 4-year-old intact female Pomeranian dog presented with brown tongue, pigmenturia, peripheral edema, and vomiting. Blood smears revealed a high count of eccentrocytes and Heinz bodies, along with a precipitous decline in packed cell volume and an increase in blood methemoglobin levels, suggesting an oxidative hemolytic crisis. This clinicopathological pattern recurred several times after the patient returned home. Antioxidants, methylene blue, hyperbaric oxygen (HBO) therapy, and blood transfusion were successfully employed to address recurrent hemolytic anemia; however, oxidative hemolytic crises recurred. After the owner removed exposure to various home remedies and fragrances, the clinical signs and hemolytic crises did not recur. Conclusions and Relevance: Recurring oxidative hemolytic crises should raise suspicions of environmental toxicity, which, although harmless in small quantities to humans, can be devastating to small-breed dogs. In addition to removing the causative agents, methylene blue and other antioxidants, along with HBO, may be beneficial in the acute management of oxidative hemolytic anemia. [ABSTRACT FROM AUTHOR]

Copyright of Arquivos Brasileiros de Oftalmologia is the property of Arquivos Brasileiros de Oftalmologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background Infective endocarditis (IE) is a serious and fatal condition, with prosthetic valve endocarditis representing the worst prognosis. The recommended nuclear imaging modality 2-deoxy-2-[18F]fluoro- D- glucose positron emission tomography/computed tomography ([18F]FDG PET/CT) has limitations. In this case series, we present two patients with IE scanned with a novel PET tracer [64Cu]Cu-DOTATATE ([64Cu]Cu-[1,4,7,10-tetraazacyclododecane- N , N ′, N ″, N ‴-tetra acetic acid]-d-Phe1, Tyr3-octreotate). Case summary An 84-year-old female patient (Patient 1) with a biological mitral valve prosthesis (MVP) was admitted acutely from the outpatient clinic. Transoesophageal echocardiography showed vegetations on the MVP. The patient underwent [64Cu]Cu-DOTATATE PET/CT, which showed uptake at the site of infection. The patient underwent surgical valve replacement. The post-operative period was without significant complications, and the patient was discharged home. In another case, a 72-year-old male patient (Patient 2) with a medical history of mild mitral valve stenosis, aortic valve stenosis, and gastrointestinal stromal tumour was admitted to the hospital for back and abdominal pain and subfebrile episodes. Transoesophageal echocardiography showed large vegetations in the native aortic valve. The patient underwent [64Cu]Cu-DOTATATE PET/CT, which showed no uptake at the site of the suspected infection. The patient underwent surgical valve replacement. The post-operative period was characterized by Candida albicans sternitis, and after prolonged hospitalization, the patient died of respiratory failure as a complication of sepsis. Discussion In conclusion, this is the first case series presenting two patients with definite IE (modified Duke criteria), who were scanned with the novel [64Cu]Cu-DOTATATE PET/CT. Patient 1, with endocarditis in the MVP, showed an uptake of the tracer, while Patient 2, with native aortic valve endocarditis, did not show any uptake. [ABSTRACT FROM AUTHOR]

Complement component 3 glomerulonephritis (C3GN) is a rare kidney disease characterized by complement dysregulation that results in prominent complement component 3 (C3) deposition in the kidneys. The clinical course of C3GN varies from mild hematuria to progressive chronic kidney disease. In most patients, C3GN is driven by acquired factors, namely, autoantibodies that target C3 or C5 convertases. Genetic variations in complement-related genes are less frequent. We report the case of a 9-year-old Korean boy who presented with microscopic hematuria and a persistently low C3 level and had biopsy findings of C3GN, with the presence of a C3 gene mutation: a frameshift mutation associated with C3 deficiency. However, the patient did not exhibit any other symptoms of complement deficiency. Direct DNA sequencing of his family members revealed the same genetic mutation in his father and older brother. This case report is significant because there are very few such reports worldwide concerning gene mutations related to C3 deficiency to be discovered in patients with C3GN. Explaining C3GN pathogenesis is challenging; therefore, additional research is required in the future.

Distinguishing lupus nephritis (LN) from other glomerulopathies, such as immunoglobulin A nephropathy (IgAN), poses a diagnostic challenge owing to overlapping clinical and histopathologic findings. Lupus anticoagulant-hypoprothrombinemia syndrome (LAHPS) is a rare and potentially fatal disorder characterized by the presence of lupus anticoagulant and acquired factor II deficiency. We report a pediatric case of LN with LAHPS, which was initially diagnosed as IgAN. An 8-year-old girl presented with gross hematuria with nephrotic syndrome. Based on the kidney biopsy results, treatment for IgAN with membranoproliferative pattern was initiated. Two months later, she developed left upper extremity swelling with multiple vein thromboses requiring anticoagulation; treatment led to remission, allowing discontinuation of immunosuppressants within 8 months. Gross hematuria recurred 10 months later and was accompanied by hypocomplementemia; positive antinuclear, anti-double stranded DNA, and triple antiphospholipid antibodies; and factor II deficiency, prompting revision of the diagnosis to LN and LAHPS. Initial delay in LN diagnosis was attributed to the patient’s young age, nonspecific symptoms, and inconclusive laboratory and histopathological findings. Immunosuppressive therapy for IgAN partially improved LN, further complicating the diagnosis. This case emphasized the importance of clinical suspicion; integrating clinical, serological, and histopathological data; and considering LAHPS in differential diagnosis of glomerulonephritis with coagulopathy.

Background: Case reports are especially important in paediatrics, and CARE (CAse REport) guidelines help in standardizing the reporting in case reports.Objectives: To examine the actual use of CARE guidelines in journals in the field of paediatrics.Methods: Journals that publish case reports were selected from the databases of the Web of Science Core Collection (WoSCC; Science Citation Index Expanded, or SCIE; and Emerging Sources Citation Index, or ESCI). All journals that publish case reports and mention CARE guidelines were included, and the ranking (quartiles) of those journals was also recorded. From all the journals in paediatrics that mention CARE in their instructions for authors, 5% of all the open-access case reports were selected (limited to 10 reports from any one journal), and every 10th case report was included in the analysis. The reports published between 2013 and 2023 were further analysed for their compliance with the 13-item CARE checklist.Results: Of 184 journals in the field of paediatrics category included in the WoSCC, 130 (71%) were indexed in the SCIE and 54 (29%) in the ESCI; 161 (87%) publish case reports; and 121 (65%) mention CARE guidelines in their instructions for authors. However, they differ in applying CARE guidelines (P = .001), and more journals included in the ESCI mention CARE guidelines than do those included in the SCIE. During 2013–2023, a total of 22,989 case reports were published in the 121 journals that mention CARE guidelines. Of the total, 6733 (29%) were open access. Our final sample comprised 326 (5%) open access case reports that were open access, of which 240 (74%) were in the journals included in the SCIE and 86 (26%) in the ESCI. On aver-age, these reports were given a score of 8.5 (SD 1.97; range, 2–13) out of the maximum possible score of 13. The highest compliance was observed for the informed consent item (99%), while the lowest compliance was found for the keywords item (22%).Conclusion: It is important for journals to ensure that during writing and editing, the case reports they publish adhere to CARE guidelines so as to eliminate biased reporting and improve their quality.

Abstract Background Post-streptococcal myalgia and myositis are very rare complications of streptococcal infections with group A β-haemolytic streptococci. Data on this condition are scarce and even less is known about findings in clinical imaging. Until today, there are no descriptions of ultrasonographic changes in this condition. Case presentation We present a case of a 31-year-old female patient with immobilizing myalgia of the left outer thigh following a streptococcal upper respiratory tract infection, accompanied with erythemata nodosa on both shins. Laboratory results indicated post-streptococcal myositis since Creatine kinase, Lactate dehydrogenase and Antistreptolysin antibodies were significantly elevated. An ultrasound of the affected vastus medialis of the left quadriceps femoris muscle was performed, which showed a focal increase in muscle echogenicity with loss of architecture and hypervascularisation in Power Doppler Mode. The diagnosis of focal myositis was confirmed with magnetic resonance imaging. The patient’s symptoms as well as the ultrasonographic changes fully resolved under therapy with Ibuprofen and intravenous Ampicillin/Sulbactam. Conclusions This is the first description of ultrasound findings in this rare condition. We conclude that muscular ultrasound is helpful to identify myositis in post-streptococcal myalgia and myositis.

Abstract Background Traumatic spondyloptosis is a rare and severe spinal injury characterized by complete anterior translation of one vertebra over another, often resulting in debilitating neurological deficits. Case presentation We present two cases of traumatic spondyloptosis and elaborate on the clinical presentation, management, and follow-up improvement. The first case is a 30-year-old Nepalese man who sustained traumatic spondyloptosis following a blunt force injury to his back while engaged in tree-cutting activities. The patient presented with severe back pain, left lower limb paralysis, and neurological deficits (consistent with American Spinal Injury Association grade C). Radiographic evaluation revealed total anterior dislocation of the L4 vertebral body over L5, accompanied by fractures of the superior endplates of both vertebrae. The second case is a 35-year-old Nepalese female who presented with back pain and lower limb paralysis following a fall from a 300-m cliff, exhibiting tenderness and ecchymosis in the mid-back region. Radiological examination revealed D12 vertebra translation over L1 with fracture, categorized as American Spinal Injury Association grade A. Both cases were surgically managed and stabilized. Conclusion These cases emphasize the importance of a comprehensive approach to trauma management as well as prompt recognition, and early surgical management in optimizing outcomes for patients with traumatic spondyloptosis.

Abstract The aim of this case report is to show the hospital dental approach to a patient with Niemann-Pick disease (NPD) type B. After her caregivers reported poor oral health, a 10-year-old girl was referred to a hospital. She was diagnosed with NPD type B 4 years ago, with involvement of the brain, nerves, liver, spleen, bone marrow, and lungs. A dental physical examination revealed chronic carious lesions in ten teeth, as well as four residual roots and poor oral hygiene. We chose a surgical block treatment based on the altered complementary exams, dental demands, and the systemic compromise caused by NPD type B. All decayed elements were restored with glass ionomer cement, and residual roots were extracted. The patient had no clinical signs of infection or hemorrhage after 20 days of post-surgical follow-up. Although rare, the presence of patients with NPD type B in the dental routine can occur, necessitating the development of an individualized and multidisciplinary treatment plan.

Due to the high morbidity and mortality of the coronavirus disease 2019 (COVID-19) in patients with malignancy, the necessity of vaccination in this group of patients became particularly important. Although a large number of studies have reported the safety of COVID-19 vaccination in multiple myeloma (MM) patients, the effect of the COVID-19 vaccine on MM relapse has not yet been reported. Here, we report a case of a possible association between relapse of MM and COVID-19 vaccination with Sinopharm®, an inactivated virus vaccine, in a patient with MM who has remained in complete remission for about 4 years. The MM relapse in the patient was diagnosed by both clinical findings and laboratory workup including serum protein electrophoresis, bone marrow aspiration, and biopsy. Despite this possible association between COVID-19 vaccination and MM relapse in the patient, given its importance in reducing mortality and having an acceptable safety profile, the COVID-19 vaccine should be administered to all cancer patients. However, careful monitoring and follow-up are recommended in patients with MM after COVID-19 vaccination.

Heavy-chain deposition disease (HCDD) is a rare disorder characterized by the deposition of monoclonal immunoglobulin. Due to the disease's rarity and diagnostic challenges, its prognosis is generally poor. Herein, we report a case of successful treatment of HCDD coexisting with multiple myeloma. A 56-year-old man presented at an outpatient clinic with complaints of whole-body pain, edema, and dyspnea that had persisted for 2 weeks. Diagnostic tests confirmed nephrotic syndrome, hematuria, and progressive renal failure. Serum immunofixation electrophoresis identified the presence of IgG kappa paraprotein. A diagnosis of multiple myeloma was established following a bone marrow biopsy. A renal biopsy revealed antibodies specific to the heavy chains of IgG on immunofluorescence, and electron microscopy showed diffuse electron-dense "powdery" densities in the glomerular basement membrane. Based on these findings, the patient was diagnosed with both HCDD and multiple myeloma. Following the diagnosis, the patient immediately began anti-plasma cell therapy using bortezomib, lenalidomide, and dexamethasone. Intermittent hemodialysis was initiated due to persistent azotemia during the diagnostic process; however, renal function improved significantly after only 1 month of therapy, allowing the discontinuation of dialysis. Early intervention with anti-plasma cell therapy, such as bortezomib, is known to improve prognosis in the early stages of the disease. This case report is presented to enhance understanding of HCDD and underscore the importance of prompt diagnosis and treatment in managing this rare condition.

Pericapsular nerve group (PENG) block was introduced as an effective way to control postoperative pain in patients who have undergone hip surgery. Therefore, we would like to discuss how to perform PENG block accurately on the basis of two cases, both of which involved hip fracture patients. Ultrasound-guided continuous PENG block was performed, and postoperative pain was adequately controlled in both cases. To mount the catheter in the correct position, it should be inserted after the needle enters at the lowest angle possible. If it is confirmed that the psoas tendon is pushed upward without an increase in injection pressure during drug injection, an accurate continuous PENG block has been achieved. We also analyzed fluoroscopic images to determine how the drug spread, and we observed that the drug spread around the hip capsule along the iliacus and psoas muscle.

Remimazolam is a promising drug for general anesthesia due to its rapid onset, short duration, and short context-sensitive half-life. However, its use in pediatric patients remains off-label, and limited prospective data have been published. Herein, we report successful anesthesia using remimazolam in pediatric patients who had a history of epilepsy or required shared airway surgery. In all cases, remimazolam provided general anesthesia, and flumazenil was used for reversal with rapid recovery. Remimazolam offers advantages for pediatric anesthesia in scenarios with a risk of seizure or shared airway surgery. However, the potential for higher bispectral index values and the risk of anaphylaxis in dextran-allergic patients necessitate caution and further research.

Although most children with coronavirus disease 2019 (COVID-19) infection present with mild symptoms, a few pediatric patients develop severe neurological manifestations. Herein, we describe the case of a pediatric patient who presented with rapidly progressive diffuse and fatal cerebral edema associated with COVID-19. A previously healthy 6-year-old boy was diagnosed with acute fulminant cerebral edema (AFCE), which resulted in transtentorial downward herniation within 48 hours after the initial onset of fever. Detailed history-taking, close monitoring of the consciousness level with serial neurological examinations, and prompt diagnosis and treatment are required in patients suspected to have AFCE. Further research is needed to identify the pathogenesis of AFCE associated with COVID-19 and the related risk factors.

Solitary fibrous tumors (SFTs) are rare neoplasms arising from mesenchymal cells. Although most SFTs are benign, rare cases of metastasis have been reported at various sites. Complete surgical resection is the mainstay of treatment for both primary and recurrent or metastatic SFTs. Herein, we present a case of an SFT initially identified in the anterior mediastinum that later developed multiple metastases, even to the thyroid gland. The patient underwent repeated surgical resection and is currently being followed up in an outpatient setting.

Calcification of the mitral valve annulus is common in patients on dialysis. The growing number of individuals receiving dialysis has been accompanied by an increase in cases necessitating surgical intervention for mitral valve annulus calcification. In this report, we present a severe case characterized by bulky calcification of the mitral annulus, which was managed with mechanical mitral valve replacement. A 61-year-old man on dialysis presented with chest pain upon exertion that had persisted for 3 months. Cardiac echocardiography revealed severe mitral stenosis and regurgitation, accompanied by cardiac dysfunction. During surgery, an ultrasonic aspiration system was employed to remove the calcification of the mitral valve annulus to the necessary extent. Subsequently, a mechanical mitral valve was sutured into the supra-annular position. To address the regurgitation, the area surrounding the valve was sewn to the wall of the left atrium. Postoperative assessments indicated an absence of perivalvular leak and demonstrated improved cardiac function. The patient was discharged on postoperative day 22. We describe a successful mitral mechanical valve replacement in a case of extensive circumferential mitral annular calcification. Even with severe calcification extending into the left ventricular myocardium, we were able to minimize the decalcification process. This approach enabled the performance of mitral mechanical valve replacement in a high-risk patient on dialysis, thus expanding the possibilities for cardiac surgery.

BACKGROUND: Few resources exist to support finding journals that accept case reports by specialty. In 2016, Katherine Akers compiled a list of 160 journals that accepted case reports, which many librarians continue to use 7 years later. Because journals editorial policies and submission guidelines evolve, finding publication venues for case reports poses a dynamic problem, consisting of reviewing a journals author guidelines to determine if the journal accepts case report manuscripts. This project aimed to create a more up to date and extensive list of journals that currently accept case reports. CASE PRESENTATION: 1,874 journal titles were downloaded from PubMed. The team reviewed each journal and identified journal titles that accept case reports. Additional inclusion factors included being indexed in MEDLINE, accessible on the internet, and accepting and publishing English language submissions. DISCUSSION: The new journal list includes 1,028 journals covering 129 specialties and is available on the Open Science Framework public page.

Patients with multimorbidity often require the concomitant use of multiple medications, presenting general practitioners (GPs) with the dilemma of assessing the benefits and risks due to complex and potential interactions between diseases and medications. This article takes one case of a multimorbid patient at a community health service center to illustrate and elucidate the process by which GP employs a medication decision-making framework for multimorbidity (MDMF). Furthermore, by examining the multi-stage goals set by Ariadne principle in the process of multimorbidity management, this article analyzes the key points and considerations for GPs in the assessment, communication, and making treatment plans, thereby offering reference to improve the quality of medication decision-making for patients with multimorbidity in the community.

Silicone breast implants are common but may be associated with a number of complications including implant rupture. This case reports a 38-year-old woman with bilateral breast implants who presented with breast unevenness, triggering a cascade of investigations that identified implant rupture. A computed tomography scan of the thorax showed subpleural enhancing nodules in the left lung of equal density as the implants, repeat computed tomography thorax months later showed no interval changes. In this case, extracapsular rupture causing deposits of silicone via the lymphatic system into the lungs resulted in nodules visible on imaging. Reassuring radiological findings and lack of red flag symptoms led to radiological follow-up and avoided the need for invasive procedures such as biopsy. The authors aim to remind clinicians of the importance of maintaining a high index of clinical suspicion for implant-related pathology and to add to current literature regarding this rare complication.

The treatment of dehydration and severe electrolyte disturbances using hypodermoclysis is usually contraindicated, but the level of evidence for its recommendation is based on expert opinion. This case report describes an older patient receiving palliative care who developed hyperosmolar dehydration with severe hypernatremia, acute kidney injury, and hyperkalemia. She was treated with hypodermoclysis using a hypotonic solution, which led to complete resolution of the condition. In conclusion, further studies on the use of hypodermoclysis for the treatment of severe hydroelectrolytic disorders are needed.

Beckwith-Wiedemann syndrome (BWS) is a growth disorder in which BWS is associated with aberrant expression of genes imprinted in the critical region of BWS and is considered a clinical spectrum in which affected individuals may have many or only one or two typical clinical features. Postnatal neonatal screening is particularly important to facilitate early diagnosis and treatment of this disorder. In this paper, we report a case of a neonate with a large tongue as the first symptom, hypoglycemia during hospitalization, and umbilical hernia in the late follow-up, and genetic testing results suggesting that he carried a c.235T>C (p.Trp79Arg) variant as a missense variant in the coding region of the cyclin dependent kinase inhibitor 1C (CDKN1C) gene, and that a T→C transition in nucleotides at position 235 of the CDKN1C gene, i.e., a missense mutation in the amino acid located in amino acid 79. This resulted in the mutation of tryptophan to arginine. Combining the clinical features of the child with the genetic test results, the diagnosis of BWS was confirmed. The purpose of this case report and the related genetic research progress is to improve the understanding of the clinical diagnosis and treatment of BWS, and to avoid misdiagnosis and under-diagnosis.

Coxiella burnetii (C. burnetii) can cause asymptomatic infections and acute, chronic, or localized manifestations affecting multiple organs. Doxycycline is the most effective treatment for Q fever. We report two cases of localized C. burnetii infections with no evident epidemiological link. Case reports: We present the case of a 51-year-old male patient admitted for low fever, dry cough, and malaise. The physical examination was unremarkable except for painful hepatomegaly. He was diagnosed with a liver abscess based on inflammatory markers, positive serology for C. burnetii, and abdominal computed tomography (CT) showing a large lesion (112/86/93 mm) within the right liver lobe. Blood cultures and the fluid obtained by percutaneous catheter drainage were negative. After 28 days of treatment with doxycycline, he was discharged well. At the three-month reevaluation, blood tests were normal, and a CT scan showed a minimal residual lesion. The second case was an 81-year-old female with many comorbidities, almost simultaneous acute ischemic stroke, and double-valve (native and prosthetic) infective endocarditis (IE). C. burnetii infection was confirmed by high titers of antibodies (phase I and II IgG), most probably the direct cause of both manifestations. These two cases presented with very rare manifestations of C. burnetii infections, highlighting its diagnostic difficulties. Conclusions: A clear distinction between acute and chronic Q fever is difficult in rare localized infections, as are organ abscesses. Coxiella burnetii may cause stroke and infective endocarditis, especially in the elderly. Even in the absence of epidemiological clues, in patients with localized infections, the C. burnetii etiology should be considered.

Abstract Background Dilated cardiomyopathy (DCM) is an etiologically heterogeneous group of diseases of the myocardium. With the rapid evolution in laboratory investigations, genetic background is increasingly determined including many genes with variable penetrance and expressivity. Biallelic NEXN variants are rare in humans and associated with poor prognosis: fetal and perinatal death or severe DCMs in infants. Case presentation We describe two male infants with prenatal diagnosis of dilated cardiomyopathy with impaired ventricular contractility. One of the patients showed hydrops and polyhydramnios. Postnatally, a DCM with severely reduced systolic function was confirmed and required medical treatment. In patient 1, Whole Exome Sequencing (WES) revealed a homozygous NEXN variant: c.1156dup (p.Met386fs) while in patient 2 a custom Next Generation Sequencing (NGS) panel revealed the homozygous NEXN variant c.1579_1584delp. (Glu527_Glu528del). These NEXN variants have not been previously described. Unlike the unfavorable prognosis described for biallelic NEXN variants, we observed in both our patients a favorable clinical course over time. Conclusion This report might help to broaden the present knowledge regarding NEXN biallelic variants and their clinical expression. It might be worthy to consider the inclusion of the NEXN gene sequencing in the investigation of pediatric patients with DCM.