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You are here: Home / Archives for Manish Butte

Manish Butte

Oxidative stress in hereditary angioedema caused by C1 inhibitor deficiency: an interesting finding that deserves further studies.

April 23, 2020 By Manish Butte

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Oxidative stress in hereditary angioedema caused by C1 inhibitor deficiency: an interesting finding that deserves further studies.

Pol Arch Intern Med. 2020 02 27;130(2):73-75

Authors: Firinu D, Costanzo GAML, Del Giacco SR

PMID: 32105244 [PubMed – indexed for MEDLINE]

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Prevalence of Continuous Pulse Oximetry Monitoring in Hospitalized Children With Bronchiolitis Not Requiring Supplemental Oxygen.

April 22, 2020 By Manish Butte

Prevalence of Continuous Pulse Oximetry Monitoring in Hospitalized Children With Bronchiolitis Not Requiring Supplemental Oxygen.

JAMA. 2020 Apr 21;323(15):1467-1477

Authors: Bonafide CP, Xiao R, Brady PW, Landrigan CP, Brent C, Wolk CB, Bettencourt AP, McLeod L, Barg F, Beidas RS, Schondelmeyer A, Pediatric Research in Inpatient Settings (PRIS) Network

Abstract
Importance: US national guidelines discourage the use of continuous pulse oximetry monitoring in hospitalized children with bronchiolitis who do not require supplemental oxygen.
Objective: Measure continuous pulse oximetry use in children with bronchiolitis.
Design, Setting, and Participants: A multicenter cross-sectional study was performed in pediatric wards in 56 US and Canadian hospitals in the Pediatric Research in Inpatient Settings Network from December 1, 2018, through March 31, 2019. Participants included a convenience sample of patients aged 8 weeks through 23 months with bronchiolitis who were not receiving active supplemental oxygen administration. Patients with extreme prematurity, cyanotic congenital heart disease, pulmonary hypertension, home respiratory support, neuromuscular disease, immunodeficiency, or cancer were excluded.
Exposures: Hospitalization with bronchiolitis without active supplemental oxygen administration.
Main Outcomes and Measures: The primary outcome, receipt of continuous pulse oximetry, was measured using direct observation. Continuous pulse oximetry use percentages were risk standardized using the following variables: nighttime (11 pm to 7 am), age combined with preterm birth, time after weaning from supplemental oxygen or flow, apnea or cyanosis during the present illness, neurologic impairment, and presence of an enteral feeding tube.
Results: The sample included 3612 patient observations in 33 freestanding children’s hospitals, 14 children’s hospitals within hospitals, and 9 community hospitals. In the sample, 59% were male, 56% were white, and 15% were black; 48% were aged 8 weeks through 5 months, 28% were aged 6 through 11 months, 16% were aged 12 through 17 months, and 9% were aged 18 through 23 months. The overall continuous pulse oximetry monitoring use percentage in these patients, none of whom were receiving any supplemental oxygen or nasal cannula flow, was 46% (95% CI, 40%-53%). Hospital-level unadjusted continuous pulse oximetry use ranged from 2% to 92%. After risk standardization, use ranged from 6% to 82%. Intraclass correlation coefficient suggested that 27% (95% CI, 19%-36%) of observed variation was attributable to unmeasured hospital-level factors.
Conclusions and Relevance: In a convenience sample of children hospitalized with bronchiolitis who were not receiving active supplemental oxygen administration, monitoring with continuous pulse oximetry was frequent and varied widely among hospitals. Because of the apparent absence of a guideline- or evidence-based indication for continuous monitoring in this population, this practice may represent overuse.

PMID: 32315058 [PubMed – as supplied by publisher]

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Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever.

April 22, 2020 By Manish Butte

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Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever.

Ann Rheum Dis. 2020 Apr 20;:

Authors: Van Gorp H, Huang L, Saavedra P, Vuylsteke M, Asaoka T, Prencipe G, Insalaco A, Ogunjimi B, Jeyaratnam J, Cataldo I, Jacques P, Vermaelen K, Dullaers M, Joos R, Sabato V, Stella A, Frenkel J, De Benedetti F, Dehoorne J, Haerynck F, Calamita G, Portincasa P, Lamkanfi M

Abstract
BACKGROUND AND OBJECTIVE: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease (AID) worldwide. The disease is caused by mutations in the MEFV gene encoding the inflammasome sensor Pyrin. Clinical diagnosis of FMF is complicated by overlap in symptoms with other diseases, and interpretation of genetic testing is confounded by the lack of a clear genotype-phenotype association for most of the 340 reported MEFV variants. In this study, the authors designed a functional assay and evaluated its potential in supporting FMF diagnosis.
METHODS: Peripheral blood mononuclear cells (PBMCs) were obtained from patients with Pyrin-associated autoinflammation with an FMF phenotype (n=43) or with autoinflammatory features not compatible with FMF (n=8), 10 asymptomatic carriers and 48 healthy donors. Sera were obtained from patients with distinct AIDs (n=10), and whole blood from a subset of patients and controls. The clinical, demographic, molecular genetic factors and other characteristics of the patient population were assessed for their impact on the diagnostic test read-out. Interleukin (IL)-1β and IL-18 levels were measured by Luminex assay.
RESULTS: The ex vivo colchicine assay may be performed on whole blood or PBMC. The functional assay robustly segregated patients with FMF from healthy controls and patients with related clinical disorders. The diagnostic test distinguished patients with classical FMF mutations (M694V, M694I, M680I, R761H) from patients with other MEFV mutations and variants (K695R, P369S, R202Q, E148Q) that are considered benign or of uncertain clinical significance.
CONCLUSION: The ex vivo colchicine assay may support diagnosis of FMF and functional subtyping of Pyrin-associated autoinflammation.

PMID: 32312770 [PubMed – as supplied by publisher]

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Carbamazepine-induced B-cell aplasia: Overlooked and overtreated.

April 22, 2020 By Manish Butte

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Carbamazepine-induced B-cell aplasia: Overlooked and overtreated.

Ann Allergy Asthma Immunol. 2020 01;124(1):89-91

Authors: Wong JCY, Li PH

PMID: 31698095 [PubMed – indexed for MEDLINE]

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Congenital asplenia due to a tlx1 mutation reduces resistance to Aeromonas hydrophila infection in zebrafish.

April 22, 2020 By Manish Butte

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Congenital asplenia due to a tlx1 mutation reduces resistance to Aeromonas hydrophila infection in zebrafish.

Fish Shellfish Immunol. 2019 Dec;95:538-545

Authors: Xie L, Tao Y, Wu R, Ye Q, Xu H, Li Y

Abstract
It is documented that tlx1, an orphan homeobox gene, plays critical roles in the regulation of early spleen developmental in mammalian species. However, there is no direct evidence supporting the functions of tlx1 in non-mammalian species, especially in fish. In this study, we demonstrated that tlx1 is expressed in the splenic primordia as early as 52 hours post-fertilization (hpf) in zebrafish. A tlx1-/- homozygous mutant line was generated via CRISPR/Cas9 to elucidate the roles of tlx1 in spleen development in zebrafish. In the tlx1-/- background, tlx1-/- cells persisted in the splenic primordia until 52 hpf but were no longer detectable after 53 hpf, suggesting perturbation of early spleen development. The zebrafish also exhibited congenital asplenia caused by the tlx1 mutation. Asplenic zebrafish can survive and breed normally under standard laboratory conditions, but the survival rate of animals infected with Aeromonas hydrophila was significantly lower than that of wild-type (WT) zebrafish. In asplenic zebrafish, the mononuclear phagocyte system was partially impaired, as demonstrated by retarded b7r expression and reduced ccr2 expression after injection with an inactivated A. hydrophila vaccine. Furthermore, the expression of MHCII/IgM was significantly reduced in the congenitally asplenic fish compared with that of the WT zebrafish. Taken together, our data suggest that tlx1 is a crucial regulator of spleen development in fish, as it is in mammals. We have also provided a new perspective for studying the role of the spleen during pathogen challenge in fish.

PMID: 31678534 [PubMed – indexed for MEDLINE]

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Klippel-Feil syndrome as a novel feature of Schimke immunoosseous dysplasia.

April 22, 2020 By Manish Butte

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Klippel-Feil syndrome as a novel feature of Schimke immunoosseous dysplasia.

Am J Med Genet A. 2019 05;179(5):862-863

Authors: Power BD, Walsh KP, Awan A, Waldron M, O’Grady MJ

PMID: 30784191 [PubMed – indexed for MEDLINE]

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Case report of an unusual presentation of Staphylococcus aureus induced toxic shock syndrome/hyperimmunoglobulinemia E syndrome.

April 21, 2020 By Manish Butte

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Case report of an unusual presentation of Staphylococcus aureus induced toxic shock syndrome/hyperimmunoglobulinemia E syndrome.

Medicine (Baltimore). 2020 Apr;99(15):e19746

Authors: Jacob HS, Vercellotti GM, Leung DYM, Schlievert PM

Abstract
RATIONALE: Toxic shock syndrome (TSS) typically is an acute onset multi-organ infection caused by TSS toxin-1 producing Staphylococcus aureus. Herein we describe a highly unusual case report.
PATIENT CONCERNS: A male patient self-referred to the University of Minnesota Hospital with a chronic history of S aureus infection with accompanying fever, hypotension, and nonhealing, football-sized lesion on his leg.
DIAGNOSIS: An unusual case presentation of TSS/hyperimmunoglobulin E syndrome is described. The patient had a leg wound from which TSS toxin-1 S aureus was isolated. The patient exhibited characteristic skewing of T cells to those with variable region, β-chain T cell receptor-2. Other patients have been seen with related presentations.
INTERVENTIONS: The following therapeutic regimen was instituted: vigorous antibacterial scrubs several times daily plus intravenous Ancef 3 days each month; intravenous infusions of immunoglobulin G infusions (28 gm) every 3 weeks; and weekly subcutaneous injections of recombinant granulocyte colony-stimulating factor.
OUTCOME: Improvement was obvious within 3 months: no further cellulitic episodes occurred; the patient regained 95 pounds in 9 months; blanching and cyanosis of fingers disappeared within 3 months as did intractable pain although mild hypesthesias continued for 2 years; erythroderma resolved, and repeat skin biopsies performed after 2 years no longer demonstrated T cell receptor skewing. Although IgE levels have not completely returned to normal, the patient remains in excellent health.
LESSONS: We propose that staphylococcal TSST-1 was responsible for the serious problems suffered by this patient as suggested by the following features: rapid onset of chronic, life-threatening, disorder that began with an episode of staphylococcal sepsis; the extraordinary elevation of IgE levels in this previously non-atopic individual; the acquired severe granulocyte chemotactic defect that accompanied this hyperimmunoglobulinemia (“Job Syndrome”) with its accompanying wound-healing defect; and the striking diffuse erythroderma, including palmar erythema (“Red Man Syndrome”) with hypotension and fever that also characterizes TSS.

PMID: 32282735 [PubMed – indexed for MEDLINE]

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Hospitalizations due to Angioedema without Urticaria in a Portuguese Center: Five Year Retrospective Study.

April 21, 2020 By Manish Butte

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Hospitalizations due to Angioedema without Urticaria in a Portuguese Center: Five Year Retrospective Study.

Acta Med Port. 2019 Nov 04;32(11):714-720

Authors: Cosme J, Spínola A, Ferreira MB, Barbosa MP

Abstract
INTRODUCTION: Hospitalizations due to angioedema are important especially in debilitating or life-threatening situations. The aim of this study was to evaluate the frequency and etiology of angioedema without urticaria in hospital admissions.
MATERIAL AND METHODS: The admissions between 2009 and 2013 in Centro Hospitalar Lisboa Norte with a diagnosis grouped under the ICD9 codes of angioedema were retrospectively analysed. The episodes of angioedema with urticaria were excluded. The admissions were categorized into 2 groups: A – hospitalizations motivated by the angioedema; B – hospitalizations in which the angioedema was an incidental finding.
RESULTS: There were 169 hospitalizations (52% females, 96% adults, mean age 52 ± 20.8 years), distributed by 23 hospital departments, 51% in the Immunoallergology department. The mean annual angioedema admission rate was 72/100 000. In 68% of the cases, angioedema was the cause for the admission; in 32% an incidental finding. In 38% there was upper airway involvement. The etiologies were: hereditary angioedema in 24%, angiotensin converting enzyme inhibitor induced angioedema in 31%, idiopathic angioedema in 21%, thrombolysis induced angioedema in 13%, nonsteroidal anti-inflammatory drug-induced angioedema in 5%.
DISCUSSION: The main etiology was angiotensin converting enzyme inhibitor angioedema, followed by hereditary angioedema and thrombolysis induced angioedema, and these findings concur with the international literature.
CONCLUSION: The mean annual angioedema admission rate was 72/100 000 and there was airway involvement in 38% of hospitalizations.

PMID: 31703184 [PubMed – indexed for MEDLINE]

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Hereditary angioedema in children: a review and update.

April 21, 2020 By Manish Butte

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Hereditary angioedema in children: a review and update.

Curr Opin Pediatr. 2019 12;31(6):863-868

Authors: Pancholy N, Craig T

Abstract
PURPOSE OF REVIEW: Hereditary angioedema (HAE) most often presents in the first two decades of life. Despite these patients often see multiple doctors and go many years before confirmation of the diagnosis. the impact on quality of life, productivity and risk of anxiety, depression, and posttraumatic stress emphasizes the need for early diagnosis and appropriate treatment.
RECENT FINDINGS: Over the past decade, therapy in the USA has emerged from fresh-frozen plasma and androgens to more than seven medications that are specific for bradykinin-induced disease. During the same time, treatment has evolved from intravenous to subcutaneous and the future will be a focus on oral therapy.
SUMMARY: Much optimism exists that patients with HAE will live a life with minimal disease and impact on their quality of life making it even more important to diagnose children at an early age.

PMID: 31693598 [PubMed – indexed for MEDLINE]

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Deficiency of adenosine deaminase 2: a case series revealing clinical manifestations, genotypes and treatment outcomes from Turkey.

April 21, 2020 By Manish Butte

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Deficiency of adenosine deaminase 2: a case series revealing clinical manifestations, genotypes and treatment outcomes from Turkey.

Rheumatology (Oxford). 2020 01 01;59(1):254-256

Authors: Kisla Ekinci RM, Balci S, Hershfield M, Bisgin A, Dogruel D, Altintas DU, Yilmaz M

PMID: 31292637 [PubMed – indexed for MEDLINE]

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