ABSTRACT
We report the case of a patient with common variable immunodeficiency (CVID) presenting with short stature and treated with recombinant human growth hormone (rhGH). Whole exome sequencing revealed a novel single-nucleotide duplication in the NFKB1 gene (c.904dup, p.Ser302fs), leading to a frameshift and thus causing NFKB1 haploinsufficiency. The variant was considered pathogenic and was later found in the patient's mother, also affected by CVID. This is the first reported case of a patient with CVID due to NFKB1 mutation presenting with short stature. We analyzed the interconnection between NFKB1 and GH - IGF-1 pathways and we hypothesized a common ground for both CVID and short stature in our patient.
Subject(s)
Common Variable Immunodeficiency , Immunologic Deficiency Syndromes , Child , Humans , Female , Haploinsufficiency , Common Variable Immunodeficiency/diagnosis , Common Variable Immunodeficiency/genetics , Frameshift Mutation , Mothers , NF-kappa B p50 Subunit/geneticsABSTRACT
Miller-Fisher syndrome (MFS) is classified as a variant of Guillain-Barré syndrome (GBS), accounting for 5%-25% of all GBS cases. Since the coronavirus disease-2019 (COVID-19) outbreak, increasing evidence has been reported of the neurological manifestations of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, affecting both the central and peripheral nervous system. Here we report the clinical course, detailed cerebrospinal fluid (CSF) profile including CSF/blood antibody status, and neurochemical characteristics of a patient with a typical clinical presentation of MFS after a positive SARS-CoV-2 infection test.
Subject(s)
COVID-19/complications , Miller Fisher Syndrome/etiology , Nervous System Diseases/etiology , Biomarkers/cerebrospinal fluid , COVID-19/cerebrospinal fluid , COVID-19/diagnosis , Humans , Male , Middle Aged , Nervous System Diseases/cerebrospinal fluid , Nervous System Diseases/diagnosis , Neurofilament Proteins/cerebrospinal fluid , Treatment OutcomeABSTRACT
AIM: Identification and enumeration of foodborne pathogens in food stuffs are valuable concerns. In the present study, starch-blood-egg yolk-polymyxin B-trimethoprim-ceftazidime (SBYPTC) agar was established to isolate and specify the number of Bacillus cereus in food products. METHODS AND RESULTS: The effectiveness of the developed medium in selecting for B. cereus from pure cultures and food matrixes naturally contaminated by high levels of microbiota was estimated, and the results were compared with that of two commercially available MYPA and PMBA media. In pure cultures, there were no significant differences in the recoverability of B. cereus among the three media, however, SBYPTC agar showed a greater exclusivity. To examine SBYPTC performance in food, B. cereus were artificially inoculated into lettuce and potato samples with high background microbiota in two separated experiments. There were no significant differences between MYPA and PEMBA. However, SBYPTC manifested greater selectivity and exclusivity and made the differentiation easier by allowing growth of B. cereus in separated colonies and inhibiting competing microflora. CONCLUSION: Our results showed that SBYPTC has high selective properties in comparison with MYPA and PEMBA. Thus, it can be considered as a useful tool to monitor the existence and the number of B. cereus in foods especially those contaminated with high levels of microflora. SIGNIFICANCE AND IMPACT OF THE STUDY: In the food industry, SBYPTC can be employed for food quality assurance to monitor B. cereus in food products contaminated with high levels of microbiota.