Manish Butte

Outcomes of the PIRASOA programme, an antimicrobial stewardship programme implemented in hospitals of the Public Health System of Andalusia, Spain: an ecologic study of time-trend analysis.

October 2, 2020 By Manish Butte

Outcomes of the PIRASOA programme, an antimicrobial stewardship programme implemented in hospitals of the Public Health System of Andalusia, Spain: an ecologic study of time-trend analysis.

Clin Microbiol Infect. 2020 Mar;26(3):358-365

Authors: Rodríguez-Baño J, Pérez-Moreno MA, Peñalva G, Garnacho-Montero J, Pinto C, Salcedo I, Fernández-Urrusuno R, Neth O, Gil-Navarro MV, Pérez-Milena A, Sierra R, Estella Á, Lupión C, Irastorza A, Márquez JL, Pascual Á, Rojo-Martín MD, Pérez-Lozano MJ, Valencia-Martín R, Cisneros JM, PIRASOA Programme Group

Abstract
OBJECTIVES: Inappropriate antimicrobial use favours the spread of resistance, and multidrug-resistant microorganisms (MDR) are currently of major concern. Antimicrobial stewardship programmes (ASPs) are essential for improving antibiotic use in hospitals. However, their impact on entire healthcare systems has not been thoroughly assessed. Our objective was to provide the results of an institutionally supported ASP involving 31 public hospitals in Andalusia, Spain.
METHODS: We designed an ecologic time-series study from 1 January 2014 to 31 December 2017. Quarterly, data on indicators were collected prospectively, and feedback reports were provided. PIRASOA is an ongoing clinically based quality-improvement programme whose key intervention is the educational interview, regular peer-to-peer interventions between advisors and prescribers to reinforce the appropriate use of antibiotics. Seventy-two indicators were monitored to measure prescribing quality (inappropriate treatments), antimicrobial consumption (defined daily doses per 1000 occupied bed-days), incidence density of MDR per 1000 occupied bed-days and crude mortality rate associated with bloodstream infections. We used Joinpoint regression software to analyse the trends.
RESULTS: The quality of antimicrobial prescribing improved markedly, and the inappropriate treatment rate was significantly lower, with quarterly percentage change (QPC) = -3.0%, p < 0.001. Total antimicrobial consumption decreased (QPC = -0.9%, p < 0.001), specifically carbapenems, amoxicillin/clavulanic acid, quinolones and antifungal agents, whereas antipseudomonal cephalosporin use increased. While the incidence of MDR showed a sustained decreasing trend (QPC = -1.8%; p 0.002), the mortality of patients with bloodstream infections remained stable (QPC = -0.2%, p 0.605).
CONCLUSIONS: To date, the PIRASOA programme has succeeded in optimizing the use of antimicrobial agents and has had a positive ecologic result on bacterial resistance at level of an entire healthcare system.

PMID: 31323260 [PubMed – indexed for MEDLINE]

A Patient with CTLA-4 Haploinsufficiency with Multiple Autoimmune Presentations: A Case Report.

October 1, 2020 By Manish Butte

A Patient with CTLA-4 Haploinsufficiency with Multiple Autoimmune Presentations: A Case Report.

Iran J Immunol. 2020 Sep;17(3):244-249

Authors: Zaremehrjardi F, Baniadam L, Seif F, Arshi S, Bemanian MH, Shokri S, Rezaeifar A, Fallahpour M, Nabavi M

Abstract
Increased susceptibility to autoimmunity, malignancy, and allergy in addition to recurrent infections are the main characteristics suggesting for the primary immunodeficiency diseases (PID). CTLA-4 is predominantly expressed on activated and regulatory T-cells, which can bind to CD80/CD86 molecules on antigen-presenting cells as a negative regulator. Here, we describe a 24-year-old male born from consanguineous parents with heterozygous CTLA-4 mutation who presented with multiple autoimmune diseases. His past clinical history revealed alopecia areata at four years old and subsequently, he developed Evans syndrome, type 1 diabetes mellitus, hypothyroidism, and chronic diarrhea while chronic rhinosinusitis and cytomegalovirus (CMV) colitis were the only infectious manifestations. Immunologic investigations revealed: low B cell count, abnormal Lymphocyte transformation test (LTT) to phytohemagglutinin (PHA), and hypogammaglobulinemia. Although all available treatments such as Intravenous Immunoglobulin (IVIG) therapy, immunosuppressive drugs, and antibiotic therapy were applied, diarrhea was not controlled due to colitis, which remained challenging. Whole exome sequencing was performed and the result showed heterozygous variant CHR2.204,735,635 G>A in the CTLA-4 gene, which was confirmed by the Sanger method. CTLA4 haploinsufficiency leads to autoimmune disorders, recurrent respiratory infections, hypogammaglobulinemia, lymphoproliferation with organ infiltration, and lymphocytic interstitial lung disease.

PMID: 32996901 [PubMed – as supplied by publisher]

A mutation in the promoter region of BTK causes atypical XLA.

October 1, 2020 By Manish Butte

A mutation in the promoter region of BTK causes atypical XLA.

Heliyon. 2020 Sep;6(9):e04914

Authors: Bravo García-Morato M, Del Pino Molina L, Torres Canizales JM, Del Rosal Rabes T, Méndez Echevarría A, González Martínez B, López-Granados E, Rodríguez Pena R

Abstract
X-linked Agammaglobulinemia is a primary immunodeficiency caused by mutations in BTK, a tyrosine kinase essential for B lymphocytes differentiation. Patients usually have very low or absent B lymphocytes and are not able to develop humoral specific responses. Here we present a boy, diagnosed with XLA due to a mutation on the promoter region of the gene, whose phenotype is characterised by low percentage of B cells, hypogammaglobulinemia, oscillating neutropenia, antibodies responses to some antigens after vaccination and IgE-mediated allergy. Additional technology as flow cytometry was needed to demonstrate the pathological status of the variant. We focus on the idea that XLA should be suspected in males with B lymphopenia and hypogammaglobulinemia, even if they make humoral specific responses. We also highlight the importance of sequencing BTK’s promoter region, as mutations on it can be disease-causing.

PMID: 32995611 [PubMed]

ATM mutation spectrum in Russian children with ataxia-telangiectasia.

October 1, 2020 By Manish Butte

ATM mutation spectrum in Russian children with ataxia-telangiectasia.

Eur J Med Genet. 2020 Jan;63(1):103630

Authors: Suspitsin E, Sokolenko A, Bizin I, Tumakova A, Guseva M, Sokolova N, Vakhlyarskaya S, Kondratenko I, Imyanitov E

Abstract
Ataxia-telangiectasia (AT) is a severe autosomal recessive orphan disease characterized by a number of peculiar clinical manifestations. Genetic diagnosis of AT is complicated due to a large size of the causative gene, ATM. We used next-generation sequencing (NGS) technology for the ATM analysis in 17 children with the clinical diagnosis of AT. Biallelic mutations in the ATM gene were identified in all studied subjects; these lesions included one large gene rearrangement, which was reliably detected by NGS and validated by multiplex ligation-dependent probe amplification (MLPA). There was a pronounced founder effect, as 17 of 30 (57%) pathogenic ATM alleles in the patients of Slavic origin were represented by three recurrent mutations (c.5932G > T, c.450_453delTTCT, and c.1564_1565delGA). These data have to be taken into account while considering the genetic diagnosis and screening for ataxia-telangiectasia syndrome.

PMID: 30772474 [PubMed – indexed for MEDLINE]

Interpretation of post-pneumococcal vaccine antibody levels: Concerns and pitfalls.

October 1, 2020 By Manish Butte

Interpretation of post-pneumococcal vaccine antibody levels: Concerns and pitfalls.

J Allergy Clin Immunol Pract. 2019 03;7(3):1061-1062

Authors: McNulty CMG, Li JT

PMID: 30594586 [PubMed – indexed for MEDLINE]

Pediatricians diagnosed few patients with childhood-presented hereditary angioedema: Icatibant Outcome Survey findings.

October 1, 2020 By Manish Butte

Pediatricians diagnosed few patients with childhood-presented hereditary angioedema: Icatibant Outcome Survey findings.

J Allergy Clin Immunol Pract. 2019 03;7(3):1078-1080

Authors: Grumach AS, Longhurst HJ, Aberer W, Bouillet L, Caballero T, Bygum A, Zanichelli A, Botha J, Andresen I, Maurer M, Icatibant Outcome Survey investigators

PMID: 30170163 [PubMed – indexed for MEDLINE]

Bleeding and splenectomy in Wiskott-Aldrich syndrome: A single-centre experience.

October 1, 2020 By Manish Butte

Bleeding and splenectomy in Wiskott-Aldrich syndrome: A single-centre experience.

J Allergy Clin Immunol Pract. 2019 03;7(3):1042-1044.e1

Authors: Rivers E, Worth A, Thrasher AJ, Burns SO

PMID: 30048768 [PubMed – indexed for MEDLINE]

Campylobacter infection in adult patients with primary antibody deficiency.

October 1, 2020 By Manish Butte

Campylobacter infection in adult patients with primary antibody deficiency.

J Allergy Clin Immunol Pract. 2019 03;7(3):1038-1041.e4

Authors: Dion J, Malphettes M, Bénéjat L, Mégraud F, Wargnier A, Boutboul D, Galicier L, Le Moing V, Giraud P, Jaccard A, Nove-Josserand R, Fieschi C, Oksenhendler E, Gérard L, DEFI study group

PMID: 29981862 [PubMed – indexed for MEDLINE]

Successful haploidentical transplantation with post-transplant cyclophosphamide for activated phosphoinositide 3-kinase δ syndrome.

October 1, 2020 By Manish Butte

Successful haploidentical transplantation with post-transplant cyclophosphamide for activated phosphoinositide 3-kinase δ syndrome.

J Allergy Clin Immunol Pract. 2019 03;7(3):1034-1037.e1

Authors: Hong CR, Lee S, Hong KT, Choi JY, Shin HY, Choi M, Kang HJ

PMID: 29890288 [PubMed – indexed for MEDLINE]

Analysis of Scoring Systems for Primary Immunodeficiency Diagnosis in Adult Immunology Clinics.

September 30, 2020 By Manish Butte

Analysis of Scoring Systems for Primary Immunodeficiency Diagnosis in Adult Immunology Clinics.

Clin Exp Immunol. 2020 Sep 29;:

Authors: Toms K, Gkrania-Klotsas E, Kumararatne D

Abstract
BACKGROUND: Failure to spot the signs of primary immunodeficiency (PID) often results in delayed diagnosis. Scoring systems to identify PID exist, such as the immunodeficiency disease-related (IDR) score.
OBJECTIVE: This research aims to analyse and improve the diagnostic sensitivity and specificity of the IDR scoring system in a small pre-selected group of adult patients referred to immunology with clinical suspicion of a PID.
METHODS: Records of all patients presenting for the first time to an adult immunology clinic in 2018 at Addenbrooke’s Hospital, Cambridge, were scored using the unmodified IDR score and modified versions of it. Included records were searched for a subsequent diagnosis of PID, and the diagnostic sensitivity and specificity of the scoring systems were analysed.
RESULTS: Of 400 patients, 213 were excluded: 141 due to secondary immunodeficiency, 69 due to no clinical suspicion of a PID and hence no investigation for PID, and 3 due to ongoing diagnostic investigations. Of 187 included patients, 71 were found to have a clinically significant PID. The unmodified IDR score was useful in discriminating between those with and without PID. Modification of the scoring system with seven additional criteria improved the sensitivity and specificity for PID diagnosis to the greatest extent.
CONCLUSION: A modified IDR score with seven additional criteria validated in adults referred to immunology with suspicion of a PID could be used clinically to aid PID diagnosis, although further validation in different patient cohorts is required before it is used in other contexts.

PMID: 32990325 [PubMed – as supplied by publisher]