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1.
Kidney Int Rep ; 9(3): 589-600, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38481507

RESUMO

Introduction: Peritoneal dialysis (PD)-related peritonitis (PDRP) is a common cause of transfer to hemodialysis, patient morbidity, and is a risk factor for mortality. Associated patient anxiety can deter selection of PD for renal replacement therapy. Diagnosis relies on hospital laboratory tests; however, this might be achieved earlier if such information was available at the point-of-care (POC), thereby significantly improving outcomes. The presence of culturable microbes and the concentration of leukocytes in effluent both aid peritonitis diagnosis, as specified in the International Society for Peritoneal Dialysis (ISPD) diagnostic guidelines. Here, we report the development of 2 new methods providing such information in simple POC tests. Methods: One approach uses a tetrazolium-based chemical reporting system, primarily focused on detecting bacterial contamination and associated vancomycin-sensitivity. The second approach uses a novel forward light-scatter device (QuickCheck) to provide an instant quantitative cell count directly from PD patient effluent. Results: The tetrazolium approach detected and correctly distinguished laboratory isolates, taking 10 hours to provide non-quantitative results. We compared the technical performance of the light scatter leukocyte counting approach with spectrophotometry, hemocytometer counting and flow cytometry (Sysmex) using patient effluent samples. QuickCheck had high accuracy (94%) and was the most precise (coefficient of variation <4%), showing minimal bias, overall performing similarly to flow cytometry. Conclusion: These complementary new approaches provide a simple means to obtain information to assist diagnosis at the POC. The first provides antibiotic sensitivity following 10 hours incubation, whereas the second optical approach (QuickCheck), provides instant accurate total leukocyte count.

2.
Neuromuscul Disord ; 30(7): 566-571, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32522502

RESUMO

LPIN1 mutations are a known common cause of autosomal recessive, recurrent and life-threatening acute rhabdomyolysis of childhood-onset. The first episode of rhabdomyolysis usually happens in nearly all cases before the age of 5 and death is observed in 1/3 of patients. Here we present two cases of acute rhabdomyolysis with a milder phenotype caused by LPIN1 mutation presenting in adolescence (11 years old) and adulthood (40 years old) after Parvovirus infection and metabolic stress, respectively. In our opinion, the mutation types, epigenetic factors, the environment exposition to triggers or the existence of proteins with a similar structure of LPIN1, may have a role in modulating the onset of rhabdomyolysis. LPIN1 should be included on a panel of genes analysed in the investigation of adult individuals with rhabdomyolysis. Metabolic and viral stressors should be included in the list of possible rhabdomyolysis precipitant.


Assuntos
Fosfatidato Fosfatase/genética , Rabdomiólise/genética , Adulto , Criança , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Mutação , Fenótipo , Rabdomiólise/etiologia , Análise de Sequência de DNA
3.
Clin J Am Soc Nephrol ; 15(2): 209-218, 2020 02 07.
Artigo em Inglês | MEDLINE | ID: mdl-31953303

RESUMO

BACKGROUND AND OBJECTIVES: Minimal change disease is an important cause of nephrotic syndrome in adults. Corticosteroids are first-line therapy for minimal change disease, but a prolonged course of treatment is often required and relapse rates are high. Patients with minimal change disease are therefore often exposed to high cumulative corticosteroid doses and are at risk of associated adverse effects. This study investigated whether tacrolimus monotherapy without corticosteroids would be effective for the treatment of de novo minimal change disease. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: This was a multicenter, prospective, open-label, randomized, controlled trial involving six nephrology units across the United Kingdom. Adult patients with first presentation of minimal change disease and nephrotic syndrome were randomized to treatment with either oral tacrolimus at 0.05 mg/kg twice daily, or prednisolone at 1 mg/kg daily up to 60 mg daily. The primary outcome was complete remission of nephrotic syndrome after 8 weeks of therapy. Secondary outcomes included remission of nephrotic syndrome at 16 and 26 weeks, rates of relapse of nephrotic syndrome, and changes from baseline kidney function. RESULTS: There were no significant differences between the tacrolimus and prednisolone treatment cohorts in the proportion of patients in complete remission at 8 weeks (21 out of 25 [84%] for prednisolone and 17 out of 25 [68%] for tacrolimus cohorts; P=0.32; difference in remission rates was 16%; 95% confidence interval [95% CI], -11% to 40%), 16 weeks (23 out of 25 [92%] for prednisolone and 19 out of 25 [76%] for tacrolimus cohorts; P=0.25; difference in remission rates was 16%; 95% CI, -8% to 38%), or 26 weeks (23 out of 25 [92%] for prednisolone and 22 out of 25 [88%] for tacrolimus cohorts; P=0.99; difference in remission rates was 4%; 95% CI, -17% to 25%). There was no significant difference in relapse rates (17 out of 23 [74%] for prednisolone and 16 out of 22 [73%] for tacrolimus cohorts) for patients in each group who achieved complete remission (P=0.99) or in the time from complete remission to relapse. CONCLUSIONS: Tacrolimus monotherapy can be effective alternative treatment for patients wishing to avoid steroid therapy for minimal change disease. PODCAST: This article contains a podcast at https://www.asn-online.org/media/podcast/CJASN/2020_01_16_CJN06180519.mp3.


Assuntos
Corticosteroides/uso terapêutico , Inibidores de Calcineurina/uso terapêutico , Imunossupressores/uso terapêutico , Nefrose Lipoide/tratamento farmacológico , Prednisolona/uso terapêutico , Tacrolimo/uso terapêutico , Adolescente , Corticosteroides/efeitos adversos , Adulto , Idoso , Inibidores de Calcineurina/efeitos adversos , Feminino , Humanos , Imunossupressores/efeitos adversos , Masculino , Pessoa de Meia-Idade , Nefrose Lipoide/diagnóstico , Prednisolona/efeitos adversos , Estudos Prospectivos , Recidiva , Indução de Remissão , Tacrolimo/efeitos adversos , Fatores de Tempo , Resultado do Tratamento , Reino Unido , Adulto Jovem
6.
Am J Hematol ; 74(3): 200-1, 2003 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-14587051

RESUMO

Granulocytic sarcoma or chloroma is a tumor composed of myeloblast or monoblast. These tumors may be found in any location of the body and occur in 5% of acute myeloid leukemia (AML) cases and are more common in pediatric patients. In this report we describe the case of a 27-year-old male who developed lower motor neuron seventh nerve palsy followed by swelling of the parotid gland. Fine-needle aspiration cytology (FNAC) of the soft tissue swelling revealed scattered blasts, and peripheral smear and bone marrow aspirate examination suggested AML. This is a rare presentation of a granulocytic sarcoma leading to a diagnosis of AML.


Assuntos
Leucemia Monocítica Aguda/diagnóstico , Doenças do Nervo Oculomotor/etiologia , Sarcoma Mieloide/diagnóstico , Adulto , Nervo Facial , Paralisia Facial/etiologia , Humanos , Leucemia Monocítica Aguda/complicações , Masculino , Neoplasias Parotídeas/diagnóstico , Sarcoma Mieloide/complicações
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