Unknown Origin Research Articles

Primary adrenal insufficiency developed 22 years after the diagnosis of light and heavy chain deposition disease: a case report.

Monoclonal immunoglobulin deposition diseases (MIDDs), including light and heavy chain deposition disease (LHCDD), are rare and heterogeneous disorders associated with underlying B-cell clonal disorders. Adrenal involvement is a potential extrarenal manifestation of MIDDs; however, limited data are available regarding its prevalence and clinical presentation. Herein, the present report describes, for the first time, a case of primary adrenal insufficiency that developed twenty-two years after a diagnosis of LHCDD had been made. A 69year-old woman with a 10year history of hemodialysis suddenly became bedridden after falling down stairs in the absence of focal neurological deficits. Subsequently, she experienced appetite loss, nausea, vomiting, a fever of unknown origin, and unexplained hypotension. Several months later, primary adrenal insufficiency and normal pressure hydrocephalus were diagnosed and successfully managed. The long-term clinical prognosis of MIDDs has not been fully elucidated despite recent advances in the management of the disorders. This report may contribute to improving our understanding of the disease course.

Rulings on Excess Wealth of Unknown Sources According to Islamic Law

Islamic law places a paramount emphasis on safeguarding wealth and preserving it from loss, and it deems its preservation as one of the objectives of Sharia. Islamic law views wealth in a general sense and regards unexplained surplus wealth from a humanitarian perspective. The aim is to elucidate the comprehensiveness, adaptability, and relevance of Islamic Sharia, demonstrating its capability to address contemporary needs by providing rulings that uphold benefits, prevent harm, and contribute to enlightening people about the principles of wealth preservation. Contemporary and emerging issues are numerous and require clarification of their legal rulings, particularly new forms such as the treatment of abandoned funds in customs, the status of deposits in commercial banks, the handling of profits in banks with unknown owners, funds in the possession of money changers, and those held in exchange centers. These issues fall under the purview of Islamic jurisprudence, akin to the concept of "lost property," due to their significant importance in jurisprudential deliberations and contemporary practical applications. The resultant conclusion is that surplus funds of unknown origin are treated akin to lost property. Contemporary and emerging matters necessitate a legal ruling, and if the owner of such funds cannot be found, they are generally allocated to charitable causes, which are broader than the concept of Muslim interests. These causes encompass various charitable endeavors, such as aiding the poor and constructing mosques, as they are considered avenues of charity.

Spider bite presenting as fever, macrophage activation syndrome and a skin ulcer

Introduction: Fever of unknown origin (FUO) refers to a condition of prolonged increased body temperature, without identified causes. The most common cause of FUO worldwide are infections; arthropod bites (loxoscelism) should be considered in view of the spread of the fiddleback spider. Loxoscelism can present in a cutaneous form (a necrotic cutaneous ulcer) or in a systemic form with fever, haemolytic anaemia, rhabdomyolysis and, rarely, macrophage activation syndrome (MAS). For this suspicion, it is important to have actually seen the spider. Case description: A 71-year-old man was admitted to our department because of intermittent fever, arthralgia and a necrotic skin lesion on his right forearm that appeared after gardening. Laboratory tests were negative for infectious diseases, and several courses of antibiotics were administered empirically without clinical benefit. Whole-body computed tomography showed multiple colliquative lymphadenomegalies, the largest one in the right axilla, presumably of reactive significance. A shave biopsy of the necrotic lesion was performed: culture tests were negative and histological examination showed non-specific necrotic material, so a second skin and lymph node biopsy was performed. The patient developed MAS for which he received corticosteroid therapy with clinical/laboratory benefit. Cutaneous and systemic loxoscelism complicated by MAS was diagnosed. Subsequently, the second biopsy revealed morphological and immunophenotypic findings consistent with primary cutaneous anaplastic large cell lymphoma (PC-ALCL). Conclusions: Skin lesions and lymphadenomegalies of unknown origin should always be biopsied. It is very common to get indeterminate results, but this does not justify not repeating the procedure to avoid misdiagnosis.

Retrospectively diagnosed autoimmune VWF deficiency in a patient with repeated hemorrhagic events after two common colds.

Autoimmune von Willebrand factor (VWF) deficiency (AiVWFD) caused by anti-VWF autoantibodies is a rare bleeding disorder, whereas "non-immune" acquired von Willebrand syndrome (AVWS) caused by other etiologies is more common. Therefore, only 40 patients with AiVWFD have been identified in Japan through an ongoing nationwide survey on autoimmune coagulation factor deficiencies. This may be due to the inability to efficiently detect anti-VWF antibodies, as anti-VWF antibody testing is not routine. An 80-year-old Japanese woman developed AVWS and experienced bleeding after two separate common colds. She took the same cold medicine each time and recovered spontaneously after discontinuation of the medicine. Severe VWF deficiency normalized each time. Initial immunological tests did not detect anti-VWF autoantibodies, and thus a diagnosis of "non-immune" AVWS of unknown origin was made. However, after 6years, new ELISA assays using purified VWF proteins detected free anti-VWF autoantibodies, which led to a retrospective diagnosis of AiVWFD. It is probable that the cold medicine (and/or cold virus infection) induced the autoantibodies, as the recurrence and normalization of the same coagulation abnormality and the clinical course (including drug administration and discontinuation) were completely synchronized. If AiVWFD is suspected, highly sensitive autoantibody tests should be performed.

Tracing the origins of Plasmodium vivax resurgence after malaria elimination on Aneityum Island in Vanuatu

BackgroundFive years after successful malaria elimination, Aneityum Island in Vanuatu experienced an outbreak of Plasmodium vivax of unknown origin in 2002. Epidemiological investigations revealed several potential sources of P. vivax. We aimed to identify the genetic origin of P. vivax responsible for the resurgence.MethodsFive P. vivax microsatellite markers were genotyped using DNA extracted from archived blood samples. A total of 69 samples from four P. vivax populations was included: 29 from the outbreak in 2002, seven from Aneityum in 1999 and 2000, 18 from visitors to Aneityum in 2000, and 15 from nearby Tanna Island in 2002. A neighbour-joining phylogenetic tree was constructed to elucidate the relationships among P. vivax isolates. STRUCTURE and principal component analysis were used to assess patterns of genetic structure.ResultsHere we show distinct genetic origins of P. vivax during the outbreak on Aneityum. While the origin of most P. vivax lineages found during the outbreak remains unidentified, limited genetic diversity among these lineages is consistent with a rapid expansion from a recent common ancestor. Contemporaneous P. vivax from neighboring Tanna and potential relapse of P. vivax acquired from other islands in 1999 and 2000 are also identified as minor contributors to the outbreak.ConclusionsMultiple reintroductions of P. vivax after elimination highlight the high receptivity and vulnerability to malaria resurgence in island settings of Vanuatu, despite robust surveillance and high community compliance to control measures.

Assessing the clinical utility of abdominal computed tomography in sepsis patients with unknown origin: A retrospective cohort study.

Early identification of the sources of infection in emergency department (ED) patients of sepsis remains challenging. Computed tomography (CT) has the potential to identify sources of infection. This retrospective study aimed to investigate the role of CT in identifying sources of infection in patients with sepsis without obvious infection foci in the ED. A retrospective chart review was conducted on patients with fever and sepsis visiting the ED of Linkou Chang Gung Memorial Hospital between July 1, 2020 and June 30, 2021. Data on patient demographics, vital signs, clinical symptoms, underlying medical conditions, laboratory results, administered interventions, length of hospital stay, and mortality outcomes were collected and analyzed. Of 218 patients included in the study, 139 (63.8%) had positive CT findings. The most common sources of infection detected by CT included liver abscesses, acute pyelonephritis, and cholangitis. Laboratory results showed that patients with positive CT findings had higher white blood cell and absolute neutrophil counts and lower hemoglobin levels. Positive blood culture results were more common in patients with positive CT findings. Additionally, the length of hospital stay was longer in the group with positive CT findings. Multivariate logistic regression analysis revealed that hemoglobin levels and positive blood culture results independently predicted positive CT findings in patients with fever or sepsis without an obvious source of infection. In patients with sepsis with an undetermined infection focus, those presenting with leukocytosis, anemia, and elevated absolute neutrophil counts tended to have positive findings on abdominal CT scans. These patients had high rates of bacteremia and longer lengths of stay. Abdominal CT remains a valuable diagnostic tool for identifying infection sources in carefully selected patients with sepsis of undetermined infection origins.

Case of acute retinal necrosis with rapid progression to proliferative vitreoretinopathy: A case report.

Acute retinal necrosis (ARN) was first reported in 1971 by Urayama et al as an acute uveitis accompanied by retinal arteritis and white retinal lesions in the peripheral retina that can progress to a rhegmatogenous retinal detachment (RRD). We have experienced a case of ARN that, unlike the common developmental course to an RRD associated with ARN, progressed to proliferative vitreoretinopathy (PVR) involving the entire retina in 2 days. The purpose of this report is to present our findings in the case of ARN with an atypical rapid time course. The patient was a 56-year-old woman who was treated for uveitis of unknown origin by her primary care physician. She was referred to our hospital because of a worsening of the fundus findings. Fundus examination in our hospital revealed vitreous opacities in the right eye, yellowish-white lesions extending around the retina, and some retinal hemorrhages. Because the retinal changes suggested ARN, we performed a polymerase chain reaction of the anterior atrial fluid and detected varicella-zoster virus. Then, the diagnosis of ARN was confirmed, and treatment was begun. At 1 month and a half after beginning the treatment, focal retinal traction was observed in the right fundus. Two days later, a circumferential PVR and a total retinal detachment were detected. We then performed vitrectomy with an encircling buckle and a silicone oil tamponade. Our examination 6 months postoperatively showed that the retina was attached and the BCVA was 20/200. Our findings of a case of ARN showed that the progression from a local vitreous traction to a full circumferential PVR can develop in 2 days.

Ameliorative Potential of Bone Marrow-Derived Mesenchymal Stem Cells Versus Prednisolone in a Rat Model of Lung Fibrosis: A Histological, Immunohistochemical, and Biochemical Study.

Idiopathic pulmonary fibrosis (IPF) is a progressive lung disease of unknown origin with limited treatment options and poor prognosis. The encouraging findings from preclinical investigations utilizing mesenchymal stem cells (MSCs) indicated that they could serve as a promising therapeutic alternative for managing chronic lung conditions, such as IPF. The objective of this study was to compare the efficiency of bone marrow-derived MSCs (BM-MSCs) versus prednisolone, the standard anti-inflammatory medication, in rats with bleomycin (BLM)-induced lung fibrosis. Four groups were created: a control group, a BLM group, a prednisolone-treated group, and a BM-MSCs-treated group. To induce lung fibrosis, 5 mg/kg of BLM was administered intratracheally. BLM significantly increased serum levels of pro-inflammatory cytokines and oxidative stress markers. The disturbed lung structure was also revealed by light and transmission electron microscopic studies. Upregulation in the immune expression of alpha-smooth muscle actin, transforming growth factor beta-1, and Bax was demonstrated. Interestingly, all findings significantly regressed on treatment with prednisolone and BM-MSCs. However, treatment with BM-MSCs showed better results than with prednisolone. In conclusion, BM-MSCs could be a promising approach for managing lung fibrosis.

AN UNUSUAL “BLACKBERRY SHAPED” MASS OF DUBIOUS INTERPRETATION (OUT OR IN THE JUGULAR VEIN?) IN A PATIENT WITH METASTATIC MELANOMA. A SPECIAL IMAGING CLINICAL CASE

Abstract A 43 y–o woman, without cardiovascular risk factors, was diagnosed with BRAF+ IIIC melanoma of unknown origin with bilateral axillary lymph node metastases. She started a combined treatment with vemurafenib, cobimetinib (braf/mek inhibitors) and atezolizumab (PDL1 inhibitor) as neoadjuvant therapy, followed after 6 weeks by surgical treatment (that showed pathological complete response) and adjuvant immunotherapy with atezolizumab hitherto ongoing. A serial CT–scan revealed a 0.9x1.3 cm mass (Fig.1) close to the right jugular vein (RJV) with increased contrast enhancement susceptible of vessel ectasia by the radiologist who expressed uncertainty about its site (intra or extravascular?) and asked for further imaging assessment. Therefore, a duplex ultrasound (DU) was performed with the detection of a 0.6x1.2 cm endovascular mobile “blackberry shaped” mass in the RJV and the indication for a vascular surgery evaluation. The patient started enoxaparin 1 mg/Kgx2/die s.c. according to “ex iuvantibus therapy”. However, the vascular surgeon diagnosis confirmed the undetermined site of the mass. The patient decided for a second DU opinion and reached our Cancer Angiology Lab, where a novel DU detected a deep vein thrombosis (DVT) of the RJV (Fig.2–Fig.3). Enoxaparin was replaced with edoxaban 60 mg 1 cp/die since the patient preferred a more manageable root of administration for the requested long–term anticoagulant treatment. After 2 months a DU follow up showed no regression of the mass. Accordingly, the patient proceeded with edoxaban 60 mg/die without any side effects, whereas still in treatment with immunotherapy. Conclusions Thromboembolism is the second leading cause of death in malignancy. Overall, biomarkers and thrombotic risk factors related to patient, tumor and anticancer regimens favor the development of cancer associated thrombosis. Delay in DVT diagnosis and, mostly, in the initiation of a full and long–term anticoagulant treatment, like in this case, enables a chronic evolution of the clot which makes its timely regression more challenging.

Genetic variability of histidine-rich protein 2 repeat sequences: Misleading factor in true determination of Plasmodium falciparum in different population

PurposeGenetically diverse parasites enhances resistance against antimalarials, vaccines and host immune responses. The present study was designed to evaluate the role played by Plasmodium falciparum genetic diversity in predicting the real world malarial population. MethodsInitially, the incidence pattern of all four northern Indian malarial species was examined using 18S rRNA gene and performed principal component analysis (PCA) based on frequencies of Plasmodium species. Consequently, genetic variance of Plasmodium falciparum histidine-rich protein-2 (Pfhrp2) gene among different malarial populations were compared using phylogenetic analysis. Multi-dimensional scaling was performed to assess genetic similarities and distances among studied populations. ResultsOf total 2168 patients screened, 561 patients with fever of unknown origin were included. 18S rRNA and Pfhrp2 genes were amplified in 78 and 45 samples, respectively. Among them 13.9%(78/561) patients had Plasmodium infection. Infections by P. falciparum, P. vivax and mixed infections were diagnosed among 47(60.2%) and 28(35.9%) and 3(3.8%) patients, respectively. We found eight types of Pfhrp2 amino acid sequence repeats among northern Indian population. The PCA findings were in line with genetic diversity and phylogenetic data. Temporal analysis showed the proportion of total diversity present in total subpopulation (ΔS/ΔT) was maximum for P. falciparum. Conclusions: Higher incidence of Pfhrp2 sequence variation through genetic recombination among multiple strains during sexual reproduction is potentially correlated with high transmission activity. This sequence variation might alter RDT detection sensitivities for different parasites by modulating the structure and frequency of antigenic epitopes.

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort

BackgroundComprehensive next-generation sequencing is widely used for precision oncology and precision prevention approaches. We aimed to determine the yield of actionable gene variants, the capacity to uncover hereditary predisposition and liquid biopsy appropriateness instead of, or in addition to, tumor tissue analysis, in a real-world cohort of cancer patients, who may benefit the most from comprehensive genomic profiling.MethodsSeventy-eight matched germline/tumor tissue/liquid biopsy DNA and RNA samples were profiled using the Hereditary Cancer Panel (germline) and the TruSight Oncology 500 panel (tumor tissue/cfDNA) from 23 patients consecutively enrolled at our center according to at least one of the following criteria: no available therapeutic options; long responding patients potentially fit for other therapies; rare tumor; suspected hereditary cancer; primary cancer with high metastatic potential; tumor of unknown primary origin. Variants were annotated for OncoKB and AMP/ASCO/CAP classification.ResultsThe overall yield of actionable somatic and germline variants was 57% (13/23 patients), and 43.5%, excluding variants previously identified by somatic or germline routine testing. The accuracy of tumor/cfDNA germline-focused analysis was demonstrated by overlapping results of germline testing. Five germline variants in BRCA1, VHL, CHEK1, ATM genes would have been missed without extended genomic profiling. A previously undetected BRAF p.V600E mutation was emblematic of the clinical utility of this approach in a patient with a liver undifferentiated embryonal sarcoma responsive to BRAF/MEK inhibition.ConclusionsOur study confirms the clinical relevance of performing extended parallel tumor DNA and cfDNA testing to broaden therapeutic options, to longitudinally monitor cfDNA during patient treatment, and to uncover possible hereditary predisposition following tumor sequencing in patient care.

SEROPREVALENCE AND CLINICAL FEATURES OF SCRUB TYPHUS AMONG FEBRILE PATIENTS IN A TERTIARY CARE HOSPITAL

Objective: Rickettsial infections is the most neglected and underdiagnosed tropical diseases in developing countries. The most common rickettsial disease, which is caused by the obligate intracellular gram-negative bacteria Orientia tsutsugamushi, is Scrub Typhus. Scrub typhus can prove to an important diagnosis in pyrexia of unknown origin (PUO) patients and is transmitted by a species of trombiculid mites (“chiggers”). Aim of this study is to find seroprevalence and clinical features of scrub typhus among febrile patients from a tertiary care hospital in North India. Methods: This study was undertaken for a period of 1 y. All the patients attending the outpatient department or admitted indoors suspected of PUO were included in the study. Serum samples of suspected cases were tested for IgM Scrub typhus. Results: During the study period, a total of 755 cases were tested for scrub typhus, out of which 223 were positive so, the seroprevlance of Scrub typhus is 29.5%. Out of 223 positive patients, 105 (47%) were males and 118 (53%) were females. Maximum no. of patients was from age group 21 to 40 y of age and maximum number of cases is in autumn season. Most common clinical feature is fever, followed by myalgia, headache, ocular pain, dyspnoea, cough and eschar, respectively. Conclusion: Scrub typhus is an emerging tropical rickettsial disease in the Indian subcontinent. The present study highlights the importance of screening of PUO cases for Scrub typhus as timely institution of simple empirical treatment can prove to be lifesaving in such cases.

A prospective study on Rickettsia infections in Central India

Rickettsial infections are under-reported in India. The actual disease burden has been underestimated as non-specific serological tests are mostly used to diagnose these infections. The aim of this study was the detection of Rickettsia infections in clinical specimens by Real-time Polymerase Chain Reaction.A study was established to analyse blood samples taken from pyrexia of unknown origin (PUO) or undifferentiated fever cases. A total of 69 such patients, were referred/walked-in to our diagnostic centre, Indore, India between October 2021 and May 2023. The blood samples were collected in EDTA lavender (purple) top tube.Of the tested samples, 14 patients (20.3%) were positive for Rickettsia infection.Gender wise distribution revealed higher incidence (57%) of Rickettsial infections in male patients. Children were majorly infected (50% of cases); multiple infection was also noted in them, though severity was not high. Severe clinical manifestation including hospitalization was also noted in some patients. Few reports are available from India on molecular diagnosis of Rickettsia infection. Early-stage molecular diagnosis will help to stave off and prevent serious complications.

Efficacy and Toxicity Analysis of mFOLFIRINOX in High-Grade Gastroenteropancreatic Neuroendocrine Neoplasms.

High-grade neuroendocrine neoplasms (NENs) comprise both well-differentiated grade 3 neuroendocrine tumors (G3 NETs) and poorly differentiated neuroendocrine carcinomas (NECs). Mixed neuroendocrine-non-neuroendocrine neoplasms (MiNENs) nearly always include poorly differentiated NEC as the neuroendocrine component. The efficacy and safety of frontline mFOLFIRINOX chemotherapy has never been investigated in patients with high-grade NENs. We conducted a multi-institutional retrospective analysis of patients with advanced high-grade NEN of the gastroenteropancreatic tract or of unknown origin seen between February 2016 and April 2023 who received treatment with frontline mFOLFIRINOX. A total of 35 patients were included (G3 NETs: n=2; NECs: n=25; MiNENs: n=8; stage III: n=5; stage IV: n=30). The objective response rate was 77% (complete response: 3%; partial response: 74%). Median progression-free survival was 12 months (95% CI, 9.2-16.2 months) and median overall survival was 20.6 months (95% CI, 17.2-30.6 months). No significant differences in efficacy were seen according to primary site, histopathology, and Ki-67 proliferative index. All 5 patients with stage III disease who received mFOLFIRINOX obtained an objective response and underwent radical surgery or definitive radiotherapy with curative intent, with a recurrence rate of 40%. Grade 3 or 4 adverse events were observed in 43% of patients (mainly neutropenia and diarrhea). Females were at significantly increased risk of developing severe toxicities. mFOLFIRINOX shows antitumor activity against high-grade NENs. Well-designed, prospective clinical trials are needed to assess the efficacy of mFOLFIRINOX in both the neoadjuvant and metastatic settings.

The Mortality Rate in Neutopenic Children Population in Oncology an Algerian Study

Febrile neutropenia consecutive to the administration of chemotherapy constitutes the most serious and the most frequent complication of cytotoxic chemotherapies. It is often a sign of infection, being able to quickly turn in septicemia if no treatment is begun; it thus constitutes an emergency for diagnosis and therapeutics. The objective of this work is to study the epidemiological, clinical, biological, etiologic and evolutionary characteristics of the episodes of febrile neutropenia, to evaluate the importance of the infectious risk and the main involved germs, to identify the difficulties of the management and the follow-up of the children having developed a febrile neutropenia and finally. During our retrospective study concerning the episodes of febrile neutropenias diagnosed in the pediatric oncology unit of the pediatric department of the university hospital of Alger over a period of 04 years (from 1 January 2017 to 31 December 2020). 205 patients having solid tumor were collected. Among them 45 cases presented febrile episodes, the average age was 5.75 years with a maximum frequency of them were male, and the main motive for consultation was the fever. The average deadline of occurrence of neutropenia was of 14.6 days. A documentation of the fever is obtained clinically at 20 % of the cases, while in 80 % of the cases, the fever remains unknown origin. The infectious sites found are: a) Skin (6.6%), digestive (4.4%), respiratory (8.8%). b) The average duration of the neutropenia was of 18.8 days. Upon completing this work, we emphasize the need of prompt and appropriate management of the hematological emergency that is febrile neutropenia by an adapted empirical antibiotic therapy after a good bacteriological investigation, without forgetting the importance of prophylaxis based mainly on hygienic mucocutaneous measures and the information/education of parents about the risk of infection and means of prevention.

Tocilizumab in the treatment of hyperferritinemic syndrome and capillary leak syndrome secondary to rheumatoid arthritis: Case report and literature review.

Rheumatoid arthritis (RA) is a chronic systemic autoimmune disease, which is mainly characterized by joint swelling, pressure pain and joint destruction. Some patients may suffer from a variety of serious complications, which require prompt diagnosis and treatment. Otherwise, the patient condition may deteriorate rapidly, leading to premature death. We reported a case of RA combined with hyperferritinemic syndrome and capillary leak syndrome (CLS) that was successfully treated with tocilizumab (TCZ), with the aim of improving diagnostic ideas for clinicians and consequently improving the diagnosis and treatment of the hyperferritinemic syndrome and CLS. A 55-year-old female patient was admitted to the Department of Infectious Diseases of our hospital due to "recurrent fever for more than 1 month and aggravation for 3 days." The patient was diagnosed with fever of unknown origin (lung infection?) and received anti-infective therapy with large encirclement of anti-bacterial, antifungal and empirical anti-tuberculosis successively during hospitalization in the Department of Infectious Diseases. Yet her condition continues to progress. The patient was eventually diagnosed with RA combined with hyperferritinemic syndrome and CLS. Then she received glucocorticoids (GC) (160 mg qd) combined with intravenous immunoglobulin (IVIG, 20 g/d, for 3 days). We considered that the patient also had an overwhelming proinflammatory cytokine storm, so she received a strong anti-inflammatory treatment with TCZ (400 mg qm). The patient symptoms and follow-up chest CT showed significant improvement following treatment. TCZ has good efficacy in the treatment of RA combined with hyperferritinemic syndrome and CLS and is expected to be a promising treatment.

Diagnostic yield of an inherited retinal disease gene panel in retinopathy of unknown origin

Purpose: Evaluating the presence of class 3, 4 and 5 genetic variants in inherited retinal disease (IRD) genes in patients with retinopathy of unknown origin (RUO). Methods: Multicentric retrospective study of RUO cases diagnosed between January 2012 and February 2022. General and ophthalmological history, complete ophthalmological examination, anti-retinal antibodies and IRD gene panel results were analyzed in every patient. Four RUO categories were defined: non-paraneoplastic autoimmune retinopathy (npAIR), unilateral pigmentary retinopathy (UPR), asymmetrical pigmentary retinopathy (APR) and acute zonal occult outer retinopathy (AZOOR). Results: We included 12 patients (9 females) across these four RUO categories. Mean age at inclusion was 45.6 years (20 – 68 years). Seven patients demonstrated class 3 variants in IRD genes. Of these, 2 also demonstrated class 5 variants in other IRD genes. The remaining 5 patients had negative panel results. IRD gene panel analysis allowed diagnosis refinement in 1 (8.3%) npAIR patient in our RUO cohort. When considering the npAIR subpopulation only, a higher diagnostic yield of 20% (1/5 patients) was achieved. Conclusions: Every suspected npAIR patient should benefit from gene panel testing in order not to overlook undiagnosed IRDs. In contrast, UPR, APR and AZOOR subpopulations did not benefit from genetic analysis in this study.

Kikuchi-Fujimoto disease: A rare case of pyrexia of unknown origin

A young male was referred to a clinician for a complaint of fever of short duration with non-specific joint pain and treated for 1 week but after some time again presented with the same complaints with severe epigastric tenderness and vomiting. There was no past medical history before this episode. When cervical lymph node biopsy was performed gave us the diagnosis of histiocytic necrotizing lymphadenitis (Kikuchi-Fujimoto disease). A rare form of necrotizing lymphadenitis is an uncommon, benign, self-limiting disorder of obscure etiology. It affects mostly young adults of both genders. Clinically, it presents with fever and lymphadenopathy of a firm to rubbery consistency frequently involving cervical lymph nodes while weight loss, splenomegaly, and leukopenia in severely ill patients.

Asymptomatic subacute thyroiditis presenting as bilateral thyroid nodules and pyrexia of unknown origin

Asymptomatic subacute thyroiditis presenting as bilateral thyroid nodules and pyrexia of unknown origin

Mycotic pulmonary artery pseudoaneurysm following total arch replacement: a case report

BackgroundAlthough the true prevalence and incidence are not clearly known, mycotic pulmonary artery aneurysm is a potentially devastating condition that leads to high mortality, over 60% if untreated. Among them, mycotic pulmonary artery pseudoaneurysm, which occurs in relatively central areas, has rarely been reported. We report an extremely rare case of a late complication with a mycotic pulmonary artery pseudoaneurysm, presumably due to infective endocarditis, in a 68-year-old woman 4 months after total arch replacement.Case presentationA 68-year-old woman was referred to our department for 2 weeks with fever of unknown origin. She had a history of emergency total arch replacement for an acute type A aortic dissection 4 months earlier and chronic rheumatoid arthritis on monthly subcutaneous tocilizumab treatment for several years. Blood culture was positive for Enterococcus faecalis. Transthoracic and transesophageal echocardiography revealed a left ventricular ejection fraction of 58%, severe mitral regurgitation with a 15-mm diameter vegetation on the anterior mitral leaflet, and severe aortic insufficiency with string-like structures. Contrast computed tomography showed a focal saccular outpouching from the right pulmonary artery. On 18F-fluorodeoxyglucose (FDG) positron emission tomography, focal uptake of FDGs was observed along the same lesion of the pulmonary artery and ascending-arch graft. The patient eventually recovered after the surgical intervention of mitral and aortic valve replacement, re-total arch replacement, pulmonary artery repair, application of omental flap, and antibiotics without any evidence of re-infection after 1 year.ConclusionsWe report a successful surgical repair of mycotic pulmonary artery pseudoaneurysm 4 months after total arch replacement for acute type A aortic dissection. This report describes an effective treatment for an extremely rare postoperative condition.