Comparison of Indirect Immunofluorescence and Enzyme Immunoassay for the Detection of Antinuclear Antibodies.

OBJECTIVE: The detection of autoantibodies directed toward nuclear antigens is one of the main criteria for the diagnosis of systemic lupus erythematosus (SLE), for which the most commonly used techniques are the enzyme immunoassay and immunofluorescence assay (IFA). However, the sensitivity and specificity of these tests vary between different techniques. Thus, in this study, we aimed to determine the superior method for detecting antinuclear antibodies (ANAs) and compare the accuracy of tests ordered by rheumatologists versus non-rheumatologists. MATERIALS AND METHODS: We compared the sensitivity and specificity of the two assays in 149 patients from a non-selected population, who were sent to the immunology laboratory of King Abdulaziz Medical City, Jeddah from 2018 to 2019. RESULTS: The sensitivity and specificity of the indirect IFA were 77.78 % and 58.65%, respectively. The positive and negative predictive values of IFA for SLE were 44.87% and 85.92%, respectively. The sensitivity and specificity of the enzyme-linked immunosorbent assay (ELISA) were 77.78% and 80.77%, respectively. The negative and positive predictive values of ELISA for SLE were 63.64% and 89.36%, respectively. The highest number of false-positive IFA tests was requested by family physicians and the lowest was requested by rheumatologists. CONCLUSION: Our data show that IFA has a higher negative predictive value, while ELISA has a higher positive predictive value. The positive predictive value of the test can be improved by pre-selecting patients by specialist rheumatologists.

Patterns of self-reported recovery from chemosensory dysfunction following SARS-CoV-2 infection: insights after 1 year of the pandemic.

BACKGROUND: The coronavirus disease (COVID-19), due to the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), causes chemosensory dysfunction. AIMS/OBJECTIVES: To determine the characteristics of chemosensory dysfunction and to identify factors associated with chemosensory complete recovery and time to recovery. MATERIALS AND METHODS: This cross-sectional study included all patients presenting with chemosensory dysfunction and confirmed SARS-CoV-2 infection from May to August 2020 who underwent telemedicine follow-up after 1 year to assess their chemosensory recovery. RESULTS: A total of 372 patients were included, of which 53.8% were male. The mean age ± SD was 37.45 ± 13.44. The majority experienced combined (olfactory and gustatory) dysfunction (85.7%), and 315 patients (84.7%) had complete loss of chemosensory function. The independent predictors associated with a low likelihood of complete recovery were parosmia (aOR 0.16, p < .001), upper respiratory tract symptoms (aOR 0.28, p = .001), and dyspnoea (aOR 0.21, p < .001), whereas the factors associated with a long recovery period were parosmia (aOR 12.04, p = .002), headache (aOR 7.19, p = .007), and hypertension (aOR 7.76, p = .039). CONCLUSIONS: A full recovery outcome was predominant. The presence of parosmia was linked to both an incomplete recovery and a long time to recovery. SIGNIFICANCE: Parosmia and respiratory symptoms are implicated in the incomplete recuperation of chemosensory function.

Natural Killer Cell Deficiency in Neuroblastoma Amplified Sequence Gene Mutation.

Natural killer cell deficiency (NKD) occurs when decreased levels of such cells lead to major immunological deficiency in the patient. NK cells participate in tumor cell surveillance, viral infections, and immunoregulation in the body. We report a case of a nine-year-old female child, a known case of neuroblastoma amplified sequence (NBAS) gene mutation in the variant c.2819A>C (p. His940Pro), which causes infantile liver failure syndrome type 2 (ILFS2). The patient had been treated at four years of age for a three-day history of vesicular skin rashes in the L2 dermatome of the left leg, with pain and without swelling or redness, ear discharge, low appetite, and decreased activity. Also, she had already had multiple admissions due to different types of infections like viral hepatitis, urinary tract infection, Salmonella bacteremia, gastroenteritis, recurrent hepatitis, follicular tonsilitis, pneumonia, mastoiditis, and varicella-zoster infection. Flow cytometry revealed low levels of CD56+ and CD16+ (2%). Recently, she has shown improvement by gaining weight and appetite following interferon-beta 1a injection.

A Case of Mild Trichohepatoenteric Syndrome With New Variant Mutation in SKIV2L Gene: Case Report.

Trichohepatoenteric syndrome (THES) is a rare autosomal recessive genetic disease characterized by severe early onset diarrhea, woolly and brittle hair, immunodeficiency, and liver disease. A mutation in either SKIV2L or TTC37 genes can cause the disease. We report a case of a 41-month-old girl who suffered from intractable watery diarrhea, hair abnormality, dysmorphic features, and poor weight gain. The diagnosis was made through whole-exome sequencing analysis. The analysis detected a new variant mutation (c.1201G > A) p. (Glu401Lys) in the SKIV2L gene. She was admitted once for poor weight gain and nasogastric tube (NGT) feeding, with which the patient showed improvement. She was discharged to go home on hypoallergenic baby formulas and a regular diet with improved weight gain.