Rare Infection Research Articles

Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in Australia

IntroductionGenomic testing is a relatively new, disruptive and complex health technology with multiple clinical applications in rare diseases, cancer and infection control. Genomic testing is increasingly being implemented into clinical...

Monkeypox Virus, A Global Public Health Concern and Challenge for Low-income Countries including Pakistan: A Right Time to Nip the Evil in the Bud

Monkeypox is a rare zoonotic infection originating in the regions of Central and West Africa. The global threat has been arising since monkeypox is spreading outside of the endemic regions. Pakistan has recently exhausted health funds in a quarrel against SARS-CoV-2, by supplying expensive COVID-19 vaccines to the general public, free of cost. Pakistan’s government has remarkably contributed to lowering the suffering of COVID-19-affected patients by granting the Sehat Sahulat Programme and similar health initiatives to restrict viral propagation in the general public. However, despite all efforts the major constraints are a lack of international funds and limitations on the budget of healthcare systems and medical facilities. Newly emerged cases of monkeypox are very threatening to Pakistan’s economy and health. Therefore, it is very necessary that healthcare authorities take effective measures like surveillance, early identification, separation, monitoring of contacts, immunization, and public awareness in order to stop the spread of the virus and control monkeypox outbreaks.

Differential diagnosis of lophomaniasis in patients with COVID-19 in northern Mexico: a case report

Pulmonary lophomoniasis is a rare infection produced by a multiflagellated and anaerobic pyriform or oval protozoan belonging to the family of Lophomonadidae. The study aimed learn the differential diagnosis of lophomoniasis in patients with COVID-19 in northern Mexico. Clinical case of a 37-years-old male patient diagnosed with pneumonia, respiratory syndrome, hemoptysis, and fever, which suggested pulmonary tuberculosis. Bronchial lavage was performed, and laboratory tests were requested, an RT-PCR test to search for SARS-CoV-2, which was positive. The results for TB and KOH for fungi were negative. In addition to the protocol, a fresh examination was performed by placing a drop from the sample on a glass slide and observing it with a 10X objective, then 40X searching for clinically structural elements. As a result, multiflagellated cellular elements in the continuous movement were observed that morphologically correspond to the genus Lophomonas spp concluding the bacteriological protocol of bronchial secretions should consider fresh examination to search for trophozoites of Lophomonas spp. Medical and laboratory personnel are unaware of the protozoa Lophomonas spp, since the fresh examination in the analysis protocol is not considered. This paper reports the first case of Lophomonas infection in a patient caused by chronic lung disease.

Алкоголь, бесспорно, зло, но пациенту повезло

Periorbital necrotizing fasciitis is a rare soft tissue infection that occurs mainly as a result of trauma in susceptible patients with immunocompromised or chronic diseases. We present a clinical case of preseptal periorbital necrotizing fasciitis that occurred in a patient after an injury. The clinic, diagnostic tactics, stages of surgical treatment, conservative treatment with a step-by-step photo demonstration are described in detail. As a result of the applied treatment, the patient achieved a satisfactory anatomical and functional state of the eyelids, visual functions were preserved. Keywords: necrotizing fasciitis, periorbital region

A Comparative Study on Survivors Versus Non-Survivors Among Diabetic Patients Having Mucormycosis.

Introduction Mucormycosis is a rare opportunistic fungal infection caused by fungi belonging to the Mucorales order and Mucoraceae family. It ranks as the third most prevalent angioinvasive fungal infection, following aspergillosis and candidiasis. This severe infection typically affects individuals with compromised immune systems, including those with hematological malignancies like leukemia and lymphoma, individuals who have undergone stem cell transplants, and people with diabetes mellitus. Individuals in good health are rarely affected, making immunocompromised individuals particularly vulnerable to this potentially fatal fungal disease. The aim of this study was to perform a comparative analysis of survivors versus non-survivors among diabetes patients admitted with mucormycosis. Methodology This was a descriptive observational study. A total of 338 patients were enrolled in the study. The study variables included demographics, COVID-19 infection, diabetes mellitus history, steroid use, use of oxygen support, and steam inhalation. Results Of the total 338 patients enrolled in the study, 253 (74.9%) were male and 85 (25.01%) were female. The number of survivors were 305 (90.2%) and non-survivors were 33(9.8%). The mean age of survivors was 52.50 ± 11.31 and non-survivors was 54.06 ± 8.54 years. Patients who underwent steam inhalation had a higher chance of survival compared to those who did not undergo steam inhalation and this association was statistically significant (p=0.01). Males showed a higher chance of survival (93.7%) as compared to females (80.0%). The associations between oxygen support, steroid use, and COVID-19 infection with the survival status were statistically non-significant. Conclusion There was a strong association between the history of steam inhalation and the outcome of mucormycosis among diabetes patients admitted with mucormycosis. Female patients demonstrated a higher fatality rate than males indicating a significant gender disparity observed in cases. Our findings may help to better identify and treat patients who are at higher risk for severe forms of mucormycosis.

Cutaneous mucormycosis in a young immunocompetent trauma patient: a case report

Introduction: Mucormycosis, a rare and life-threatening infection, is caused by microorganisms of the Mucorales order. It affects almost exclusively immunocompromised and diabetic patients, requiring extensive surgical debridement and prolonged antifungal therapy. Discussion/Results: We report the case of a 26-year-old immunocompetent woman, presenting with cutaneous mucormycosis after suffering blunt force trauma. This rare occurrence of mucormycosis in an immunocompetent patient reinforces the importance of elevated clinical suspicion and early initiation of adequate surgical and antifungal treatment. Conclusion: Mucormycosis is a challenging condition with potentially devastating consequences. Timely diagnosis and appropriate management are vital to mitigate the morbidity and mortality associated with this condition.

Urinary Tract Infection by Enterobacter sakazakii: A Case Report

Introduction: Enterobacter sakazakii is considered a rare yet extremely important cause of enterocolitis and may lead to a necrotizing condition. Central nervous system and blood infections with this type of organism will be fatal, with a mortality rate of as much as 40 - 80%. Case Presentation: Our case report is a 31-month-old boy with a history of posterior urethral valves surgery presented to the emergency department with a history of dysuria, dribbling, and a 24-hour history of fever, chill, and anorexia. The case had a urinary tract infection diagnosis with E. sakazakii. Conclusions: E. sakazakii can cause bacteremia, meningitis, and necrotizing enterocolitis, but E. sakazakii causes rare literature about urinary tract infection (UTI). We have reported a rare Enterobacter sakazakii infection in the present study.

Brain abscess caused by trauma of the rhinobasis: an endoscopic challenge

Abstract Brain abscess is a rare but life-threatening infection of the brain. It often occurs as a complication of infection, trauma, or surgery. This case presents a brain abscess in a 22-month-old boy that developed after a transnasal injury with a foreign body. A minimal-invasive, transnasal, endoscopic-controlled technique was used, during which the foreign object was removed and the abscess drained. Bacteriological samples were obtained and the abscess cavity irrigated. Postoperative care included antibiotics and daily irrigation of the abscess cavity. Follow-up MRI scans showed reduction in abscess size. A spinal drain was inserted temporarily to address rhino-liquorrhoea. The patient remained asymptomatic during one-year of follow-up. This case report highlights the occurrence of a brain abscess in childhood following a transnasal injury and demonstrates a minimal-invasive, transnasal, endoscopic-controlled surgical technique. The findings underscore the importance of considering brain abscess as a potential complication in cases of head trauma, particularly in atypical presentations.

No evidence of an association of multiple sclerosis (MS) with Borna disease virus 1 (BoDV-1) infections in patients within an endemic region: a retrospective pilot study

BackgroundBorna disease virus 1 (BoDV-1) causes rare human infections within endemic regions in southern and eastern Germany. The infections reported to date have been linked to severe courses of encephalitis with high mortality and mostly irreversible symptoms. Whether BoDV-1 could act as a trigger for other neurological conditions, is, however, incompletely understood.Objectives and methodsIn this study, we addressed the question of whether the presentation of a clinically isolated syndrome (CIS) or of multiple sclerosis (MS) might be associated with a milder course of BoDV-1 infections. Serum samples of 100 patients with CIS or MS diagnosed at a tertiary neurological care center within an endemic region in southern Germany and of 50 control patients suffering from headache were retrospectively tested for BoDV-1 infections.ResultsIn none of the tested sera, confirmed positive results of anti-BoDV-1-IgG antibodies were retrieved. Our results support the conclusion that human BoDV-1 infections primarily lead to severe encephalitis with high mortality.

THU102 A Case Of Papillary Craniopharyngioma WHO Grade 1 Turned Into Abscess

Abstract Disclosure: R.J. Shah: None. J. Patel: None. P.A. Belany: None. Craniopharyngioma is a rare primary brain tumor located in the suprasellar region. Papillary craniopharyngiomas (PC) occur mostly in adults, between age 40-50. Despite surgery being the primary treatment, PCs have a high tendency for relapse. We present a case of PC WHO grade 1, positive for BRAF V600E mutation concerning for regrowth 10 months following surgical resection. A 45-year-old male presented to the emergency department with complaint of right orbital headaches, vision change and severe fatigue. CT head was normal and was discharged home. Headaches, fatigue, and vision change progressively worsened over the next week with new symptoms of erectile dysfunction, low libido, weight loss, polyuria, polydipsia and proximal muscle weakness developing. Morning labs showed FT4 0.5ng/dl, TSH 2.32uIU, cortisol 1.5ug/dl, ACTH 14 pg/mL, FSH 1.5mIU/mL, LH 0.2mIU/mL, total testosterone 6ng/dl, prolactin 17.5ng/mL, IGF-1 134 ng/mL and GH 0.2ng/dl concerning for panhypopituitarism. Chemistry panel was unremarkable. MRI pituitary confirmed sellar mass measuring 2.1x1.3x2.1cm compressing the optic chiasm. Evaluated by endocrinology, patient was started on hydrocortisone, levothyroxine and desmopressin and referred to neurosurgery. Following endoscopic endonasal approach (EEA), pathology showed PC WHO Grade 1 and molecular testing positive for BRAF V600E mutation. Two-month post-surgical MRI showed residual 8mm lesion. Active surveillance showed regrowth of sellar lesion to 1.8 cm with optic chiasm compression ten months following EEA. Repeat EEA was done with concern for relapse. Surprisingly, intraoperative purulent fluid draining from the sella was found and positive for Acinetobacter. Sellar abscess was drained and he received six weeks of intravenous antibiotics. Repeat MRI showed resolution of the entire sellar lesion, his vision normalized and continued to be on hormone replacement for panhypopituitarism. PCs are locally aggressive suprasellar lesions that can reach a large size prior to clinical symptoms developing. Around 90% of PC are positive for BRAF V600 mutation. Surgical resection and radiotherapy are the primary treatment, but newer studies have demonstrated tumor regression using BRAF targeted agents following relapse. Our case demonstrates a pituitary abscess (PA) found intraoperatively that was originally suspicious for tumor recurrence. PA is a rare and serious intrasellar infection associated with high mortality. It is difficult to diagnose preoperatively and can be misdiagnosed as recurrence or residual tissue. PA can be primary or secondary depending on etiology. PA associated with residual craniopharyngioma tissue is extremely rare and the exact pathophysiology is not well understood. If no evidence of sepsis or meningitis, treatment with transsphenoidal decompression and intravenous antibiotics has good clinical outcomes. Presentation: Thursday, June 15, 2023

Species identification and drug susceptibility testing of non-tuberculous mycobacteria by Line Probe Assay in Lambaréné, Gabon—a cross-sectional study

BackgroundNon-tuberculous mycobacteria (NTM) are a group of bacteria that cause rare lung infections and are increasingly recognized as causative agents of opportunistic and device-associated infections in humans. In Gabon, there is a lack of data on NTM species identification and drug susceptibility. The aim of this study was to identify the frequency of NTM species and their genotypic susceptibility pattern to commonly used antibiotics for NTM infections in Gabon.MethodsA cross-sectional study was conducted at the CERMEL TB laboratory from January 2020 to December 2022, NTM subspecies identification and drug susceptibility testing to macrolides and aminoglycosides were performed using the genotype NTM-DR kit.ResultsThe study found that out of 524 culture-positive specimens, 146 (28%) were NTM, with the predominant group being Mycobacterium avium complex (MAC) and Mycobacterium abscessus complex (MABC). All MAC isolates were fully susceptible to macrolides and aminoglycosides, while five MABC isolates carried mutations indicative of reduced susceptibility to macrolide and aminoglycoside drugs.ConclusionsThese findings suggest that clinicians may use macrolides and aminoglycosides to manage NTM infections caused by MAC, but further investigation is required to determine MABC drug susceptibility.

Rare Bipolaris Species Fungal Periprosthetic Hip Infection in an Immunocompetent Host: A Case Report.

We present a case report of a 64-year-old man who developed a rare Bipolaris species fungal periprosthetic joint infection (PJI) after revision arthroplasty for complications associated with a metal-on-metal total hip arthroplasty. The patient underwent a 2-stage debridement with antibiotic bead placement and implant retention, along with chronic antifungal suppression. At the 2-year follow-up, the patient remained asymptomatic. Fungal PJI with filamentous fungi such as Bipolaris species is a rare clinical entity. This case report highlights the clinical presentation and management of this rare condition.

Clinical Features and Antibiotic Treatment of Neonatal Listeriosis: A Hospital-Based Study.

To determine the clinical features, laboratory findings, antibiotic treatment, and outcomes of neonatal listeriosis in a specialized tertiary hospital in Wuhan, China. We retrospectively analyzed the medical records of patients diagnosed with neonatal listeriosis at Maternal and Child Health Hospital of Hubei Province from January 2015 to December 2022. Listeriosis was indicated by positive culture for Listeria monocytogenes (LM). A total of 11 cases were included in our study. The incidence rate of neonatal listeriosis was 2.06 per 100,000 live births. Seventy-three percent of the cases were born prematurely, caused early onset sepsis. Respiratory distress (100%) was the most common and earliest symptom, followed by fever (64%) and rashes (27%). The levels of C-reactive protein (CRP) and procalcitonin (PCT) were elevated in 100% of the cases. The median time-to-positivity (TTP) of the culture was 15 hours (range 9-28hours). Of the 11 neonates, 6 were cured, 2 showed improvement, and 3 died, with a mortality rate of 27%. There were statistically significant differences in Apgar score at 5 minutes (p=0.037) and CRP (p=0.025) between the survival group and fatality group. Ampicillin was sensitive to LM isolates and effective for therapy if initiated early. Neonatal listeriosis is a rare but severe infection with a high mortality rate. Early identification and appropriate use of effective antibiotics are particularly critical for achieving positive outcomes. Apgar score and CRP are relevant indices for prognosis. Ampicillin is the first-line therapy and can be empirically administered to neonates suspected of having listeriosis.

Phthiriasis palpebrarum: A case report and brief review of literature

Phthiriasis palpebrarum (PP) is a rare infection of the eyelid caused by pubic lice, often confused with other causes of blepharoconjunctivitis. In this study, we report a case of a 3-year-old girl with PP who was treated for conjunctivitis in the past month due to itching and eye irritation in the right eye. Slit-lamp examination revealed dense activity and translucent lice and eggs. For treatment, the lice were first mechanically cleaned, eyelashes were removed from the base, eggs and lice were removed from the eyes, and then tobramycin eye drops was administered to prevent conjunctivitis. A re-examination done 1 month later showed no recurrence.

Subcutaneous Basidiobolomycosis: A Rare and Underdiagnosed but Curable Fungal Infection - A Case Report

Basidiobolomycosis is a rare deep fungal infection caused by Basidiobolus ranarum and characterized by the development of swollen erythematous nodular lesions. Several azoles have been shown to be an effective treatment for this condition. Herein, we report a case of basidiobolomycosis that was initially misdiagnosed as a different disease and resolved after itraconazole medication. A 25-year-old man presented with a 2.5-year history of extensive swelling on his right arm, face, and neck. Initially, he was diagnosed with lipoma and scapular tuberculosis; however, no improvements were observed post-surgery and with tuberculosis medication. Histopathological examinations revealed giant cells, aseptate hyphae, and the Splendore-Hoeppli phenomenon. Fungal culture confirmed the isolate to be Basidiobolus ranarum. The patient was given oral itraconazole 200 mg twice daily, and the complete resolution was achieved after 25 months of treatment.

Contribution of ADD3 and the HLA Genes to Biliary Atresia Risk in Chinese.

Nonsyndromic biliary atresia (BA) is a rare polygenic disease, with autoimmunity, virus infection and inflammation thought to play roles in its pathogenesis. We conducted a genome-wide association study in 336 nonsyndromic BA infants and 8900 controls. Our results validated the association of rs17095355 in ADD3 with BA risk (odds ratio (OR) = 1.70, 95% confidence interval (95% CI) = 1.49-1.99; p = 4.07 × 10-11). An eQTL analysis revealed that the risk allele of rs17095355 was associated with increased expression of ADD3. Single-cell RNA-sequencing data and immunofluorescence analysis revealed that ADD3 was moderately expressed in cholangiocytes and weakly expressed in hepatocytes. Immuno-fluorescent staining showed abnormal deposition of ADD3 in the cytoplasm of BA hepatocytes. No ADD3 auto-antibody was observed in the plasma of BA infants. In the HLA gene region, no variants achieved genome-wide significance. HLA-DQB1 residue Ala57 is the most significant residue in the MHC region (OR = 1.44, 95% CI = 1.20-1.74; p = 1.23 × 10-4), and HLA-DQB1 was aberrantly expressed in the bile duct cells. GWAS stratified by cytomegalovirus (CMV) IgM status in 87 CMV IgM (+) BA cases versus 141 CMV IgM (-) BA cases did not yield genome-wide significant associations. These findings support the notion that common variants of ADD3 account for BA risk. The HLA genes might have a minimal role in the genetic predisposition of BA due to the weak association signal. CMV IgM (+) BA patients might not have different genetic risk factor profiles compared to CMV IgM (-) subtype.

P11 A case of Mycobacterium marinum infection in a patient with rheumatoid arthritis recently initiated on adalimumab

P11 A case of <i>Mycobacterium marinum</i> infection in a patient with rheumatoid arthritis recently initiated on adalimumab

A study on the utility of KOH mount and HPR in the diagnosis of post COVID mucormycosis

Background: Mucormycosis is a deadly disease that mostly affects the immunocompromised. Steroid therapy following COVID-19 infection has led to an alarming rise in the rates of this rare infection. Key to management of this disease is early diagnosis. The most common modalities used for diagnosis are KOH mount and histopathological examination. In our study we compare the efficacy of these two diagnostic modalities. Methods: Nasal endoscopy was done in all suspected cases of the disease. Nasal discharge, crusts were collected in a sterile manner and sent for KOH mount examination. Specimens collected following surgical debridement was sent for HPR examination. The results of both are compared. Results: In our study, HPR was positive in 82.2% cases while KOH mount showed positive results in 43.5% cases only. Conclusions: Histopathology helps in confirming the diagnosis of mucormycosis. It also helps to demonstrate tissue invasion and identification of species of fungus. But it is time consuming. KOH mount examination is rapid and inexpensive but the test shows high false negative values. Thus, KOH mount examination can be used as a screening tool while histopathological examination can be used as a confirmation test for post covid mucormycosis.

A 13-Year-Old Boy with Chest Wall Actinomycosis Mimicking Ewing Sarcoma on Imaging.

BACKGROUND Actinomyces, a filamentous, branching, anaerobic gram-positive bacillus, typically found as a commensal organism in the oral cavity, can lead to rare chronic bacterial infections in various anatomical regions. Chest wall involvement represents an uncommon presentation, posing significant diagnostic challenges. This report focuses on the case of a 13-year-old boy presenting with chest wall actinomycetoma that closely resembled Ewing sarcoma on imaging. CASE REPORT We present the case of a 13-year-old male with no previous medical history who presented to the Emergency Department with progressive left-sided chest pain following a sports-related fall. Physical examination revealed mild swelling and tenderness on the left anterior chest wall. A chest computed tomography (CT) scan revealed a large tumor involving the lower left chest wall, suggesting Ewing sarcoma. However, a histopathological examination unexpectedly confirmed actinomycosis of the chest wall. Intravenous penicillin G was promptly initiated for 4 weeks. A follow-up CT scan after 4 weeks of therapy demonstrated a significant response with notable reduction in the size of the chest wall mass. The patient then continued with maintenance therapy using oral amoxicillin for 12 months. Throughout this period, complete resolution of the chest wall mass occurred, with no significant adverse events or complications observed. CONCLUSIONS This case highlights the importance of considering uncommon differential diagnoses like chest wall actinomycosis in patients presenting with chest wall masses. The diagnostic complexities associated with this rare condition emphasize the need for a comprehensive evaluation strategy, incorporating histopathological examination and imaging.

Case Study of a Zoonotic Infection Caused by Streptococcus suis Reported for the First Time in Goa Region, India

This is a case study on epidemiological factor clinical spectrum and drug susceptibility of a rare zoonotic infection caused by Streptococcus sui in a 60 year female patient. Presented with fever and altered sensorium. Blood culture analysis revealed the causative agent to be Streptococcus sui. Antibiotic sensitivity screening of the culture was also performed. So while recording the case history it was noted that the patient was in close contact with pigs on regular basis. The patient was treated with ceftriaxone antibiotic and responded favorably to the therapy. We represent the first human case of Streptococcus sui from Goa.