Clinical laboratory standard capillary protein electrophoresis alerted of a low C3 state and lead to the identification of a Factor I deficiency due to a novel homozygous mutation

Capillary electrophoresis is a technique that can be automated for the separation of charged particles. By investigating suitable sample dilution and injection time and adhering to a strict washing procedure we have been able to quantify paraproteins in serum samples. This has enabled us to use the technique of capillary electrophoresis for the provision of serum protein electrophoresis in a routine clinical laboratory. We present our findings of 260 serum samples, which included 76 samples with paraproteins analysed by both capillary electrophoresis (EC) and high resolution agarose gel electrophoresis (HRAGE). CE was able to detect all the monoclonal bands detected by HRAGE, and, in particular, better able to detect IgA monoclonal bands occurring in the beta region. The major advantages of CE over HRAGE relate to the automated nature of CE with the elimination of the need for a densitometer.

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EFICÁCIA DE SOLUÇÕES DESINFETANTES NA ELIMINAÇÃO DE FUNGOS DE IMPORTÂNCIA MÉDICA E VETERINÁRIA

Archives of Veterinary Science ◽

10.5380/avs.v18i1.26134 ◽

2013 ◽

Vol 18 (1) ◽

Author(s):

Isabel Martins Madrid ◽

Alessandra Jacomelli Teles ◽

Rosema Santin ◽

Antonella Souza Mattei ◽

Angelita Gomes ◽

...

Keyword(s):

Cryptococcus Neoformans ◽

Clinical Laboratory ◽

Sporothrix Schenckii ◽

Candida Spp ◽

Malassezia Pachydermatis ◽

Clinical Laboratory Standard Institute ◽

Clinical Laboratory Standard

Programas de higiene e desinfecção são essenciais no controle ambiental de agentes fúngicos potencialmente patogênicos aos homens e animais, dessa forma objetivou-se avaliar a ação antifúngica do hipoclorito de sódio 4% e digluconato de clorexidina 6,6% em doze isolados fúngicos. Foram testados fungos isolados do ambiente e de casos clínicos como Aspergillus spp, Candida spp, Microsporum spp, Malassezia pachydermatis, Cryptococcus neoformans e Sporothrix schenckii. Foram utilizadas as técnicas de microdiluição em caldo e difusão em ágar conforme protocolos descritos pelo Clinical Laboratory Standard Institute (CLSI) com adaptações para agentes químicos. Todos os isolados foram sensíveis a concentrações inferiores a recomendada pelo fabricante do digluconato de clorexidina (6,6%) com CIM e CFM entre ≤0,42 a 1,68%. Para o hipoclorito de sódio, 58,3% dos isolados foram resistentes a concentração recomendada pelo fabricante (4%) apresentando CIM e CFM entre 2 e >8%. O digluconato de clorexidina apresentou maiores zonas de inibição do que o hipoclorito de sódio, com halos de até 31mm de diâmetro. A clorexidina demonstrou ação fungicida em baixas concentrações sendo eficaz na eliminação de fungos filamentosos e leveduriformes de importância médica e veterinária, enquanto o hipoclorito de sódio somente obteve esta ação em altas concentrações.

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Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review

European Neurology ◽

10.1159/000508346 ◽

2020 ◽

Vol 83 (3) ◽

pp. 317-322

Author(s):

Makoto Samukawa ◽

Naoko Nakamura ◽

Makito Hirano ◽

Miyuki Morikawa ◽

Hanami Sakata ◽

...

Keyword(s):

Neutral Lipid ◽

Storage Disease ◽

Clinical Laboratory ◽

Lipid Storage ◽

Compound Heterozygous ◽

Homozygous Mutation ◽

Lipid Storage Disease ◽

Consistent Finding ◽

Pulmonary Cysts ◽

Neutral Lipid Storage Disease

Mutations in the PNPLA2 gene cause neutral lipid storage disease with myopathy (NLSDM) or triglyceride deposit cardiomyovasculopathy. We report a detailed case study of a 53-year-old man with NLSDM. The PNPLA2 gene was analyzed according to the reported method. We summarized the clinical, laboratory, and genetic information of 56 patients, including our patient and 55 other reported patients with homozygous or compound heterozygous mutations in the PNPLA2 gene. We found a novel homozygous mutation (c.194delC) in the PNPLA2 gene that resulted in frameshift. The patient suffered from normal-tension glaucoma and pulmonary cysts, symptoms that are relatively common in the elderly but were not previously reported for this disease. Our summary confirmed that Jordan’s anomaly, polymorphonuclear leukocytes with lipid accumulation, was the most consistent finding of this disease. Because this disease is potentially treatable, our results may help rapid and correct diagnosis.

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Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene

Frontiers in Pediatrics ◽

10.3389/fped.2020.583047 ◽

2020 ◽

Vol 8 ◽

Author(s):

Jie Wang ◽

Huan Li ◽

Min Sun ◽

Ying Yang ◽

Qianli Yang ◽

...

Keyword(s):

Oxidative Phosphorylation ◽

Early Onset ◽

Autosomal Recessive ◽

Clinical Laboratory ◽

Clinical Manifestations ◽

Hereditary Diseases ◽

Exercise Intolerance ◽

Chinese Family ◽

Heterozygous Mutation ◽

Homozygous Mutation

Mitochondrial diseases constitute a group of heterogeneous hereditary diseases caused by impairments in mitochondrial oxidative phosphorylation and abnormal cellular energy metabolism. C1QBP plays an important role in mitochondrial homeostasis. In this study, clinical, laboratory examinations, 12-lead electrocardiographic, ultrasonic cardiogram, and magnetic resonance imaging data were collected from four members of a Chinese family. Whole exome were amplified and sequenced for the proband. The structure of protein encoded by the mutation was predicted using multiple software programs. The proband was a 14-year old boy with myocardial hypertrophy, exercise intolerance, ptosis, and increased lactate. His 9-year old brother exhibited similar clinical manifestations while the phenomenon of ptosis was not as noticeable as the proband. The onset of this disease was in infancy in both cases. They were born after uneventful pregnancies of five generation blood relative Chinese parents. A homozygous mutation (Leu275Phe) in the C1QBP gene was identified in both brothers in an autosomal recessive inherited pattern. Their parents were heterozygous mutation carriers without clinical manifestations. We demonstrated that a homozygous C1QBP- P.Leu275Phe mutation in an autosomal recessive inherited mode of inheritance caused early onset combined oxidative phosphorylation deficiency 33 (COXPD 33) (OMIM:617713) in two brothers from a Chinese family.

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Use of isoelectric focusing to discriminate transient oligoclonal bands from monoclonal protein in treated myeloma

Clinical Chemistry and Laboratory Medicine (CCLM) ◽

10.1515/cclm-2015-0642 ◽

2016 ◽

Vol 54 (6) ◽

Author(s):

Robyn Henry ◽

Debra Glegg

Keyword(s):

Prostate Cancer ◽

Serum Protein ◽

Isoelectric Focusing ◽

Clinical Laboratory ◽

Normal Serum ◽

Protein Electrophoresis ◽

Serum Protein Electrophoresis ◽

Oligoclonal Bands ◽

Abnormal Protein ◽

Monoclonal Protein

AbstractA 62-year-old diabetic man with prostate cancer first presented to our clinical laboratory in 2003 with a normal serum protein electrophoresis and immunofixation. In March 2009 he was diagnosed with an IgG κ myeloma. He underwent treatment and went into remission with the original paraprotein band being undetectable. Over the following 5 years, he developed oligoclonal bands and then eventually relapsed. Serum protein electrophoresis and immunofixation were inconclusive, however, isoelectrofocusing identified the oligoclonal pattern then the return of the original band, indicating relapse. This case illustrates the usefulness of an isoelectric focusing method to correctly determine clonality of small abnormal protein bands. It also highlights the need for appropriate commenting on reported results so that they are not confusing for clinicians.

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MP8: MONOCLONAL GAMMOPATHY CHARACTERIZATION USING SERUM PROTEIN ELECTROPHORESIS IN A MAJOR URBAN POPULATION

Journal of Investigative Medicine ◽

10.1136/jim-2016-000080.20 ◽

2016 ◽

Vol 64 (3) ◽

pp. 807.2-808

Author(s):

DB Laskar ◽

K Shafique ◽

C Lu ◽

A Zuretti

Keyword(s):

Serum Protein ◽

Monoclonal Gammopathy ◽

Clinical Laboratory ◽

Univariate Analysis ◽

Group Versus ◽

Protein Electrophoresis ◽

Serum Protein Electrophoresis ◽

Female Ratio ◽

Wide Range ◽

Hiv Aids

Purpose of StudySerum protein electrophoresis (SPEP) with subsequent immunofixation (IF) are clinical laboratory techniques used to evaluate a wide-range of disorders where abnormal serum protein quantities are characteristic (e.g. multiple myeloma (MM), MGUS, amyloidosis, HIV/AIDS, SLE, CLL/NHL). Thus, it is important to identify or exclude malignancy when considering the analyses. Our aim is to characterize SPEP patients from our institution, a predominantly black population.Methods UsedWe retrospectively reviewed 50 patient's SPEP/IF results. Data recorded were SPEP/IF results, monoclonal immunoglobulin (Ig) identity, clinical diagnoses, age, race and gender. Univariate analysis was used to describe patient demographics. Parametric analysis was used to compare the monoclonal gammopathy (MG) group versus non-MG group.Summary of ResultsAge range was 12–86 years, mean age was 62 years and male to female ratio was 1:3.5. Forty-eight (96%) patients identify as black, 1 (2%) Asian and 1 (2%) white. SPEP patterns showed 1 (2%) patient had acute inflammation, 3 (6%) had chronic inflammation, 24 (48%) were inconclusive, 16 (32%) had MGs, 3 (6%) had normal results and 3 (6%) had polyclonal bands (table 1). Among MG patients, IgG was most common isotype (75%), kappa was most common light chain (58%) and IgG kappa was most common (44%). Mean age was 69 years for MG patients and 58 years for non-MG patients.MM was identified in 9 (18%) patients; 89% (8/9) had normal total protein (TP) levels and 1 (11%) had increased TP. Neuropathy was seen in 7 (14%) patients; 71% (5/7) had polyclonal gamma Ig increase, and 1 (14%) case with co-HIV infection had monoclonal IgG kappa. Seven (14%) patients had CKD, 4 (8%) had HIV/AIDS, 3 (6%) had anemia, 3 (6%) had MGUS, 1 (2%) had SLE and the remaining 16 (32%) had other co-morbidities (i.e. HTN, DM, CAD, etc.).ConclusionsSPEP/IF analyses were used to characterize 50 patients. A wide-range of disorders were observed. MG patients were 11 years older than non-MG patients. IgG kappa was most common MG. Our study showed female-predominance. This study shows SPEP utility to discern various disorders observed at our institution.Abstract MP8 Figure 1

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Comparison of carbapenem breakpoints in Clinical Laboratory Standard Institute and European Committee on Antimicrobial Susceptibility Testing guidelines on antibiotic susceptibility test reporting of Acinetobacter baumannii

Indian Journal of Pathology and Microbiology ◽

10.4103/0377-4929.188112 ◽

2016 ◽

Vol 59 (3) ◽

pp. 429

Author(s):

Arunava Kali ◽

PravinM. V. Charles ◽

Sreenivasan Srirangaraj

Keyword(s):

Acinetobacter Baumannii ◽

Antimicrobial Susceptibility ◽

Antibiotic Susceptibility ◽

Susceptibility Testing ◽

Clinical Laboratory ◽

Susceptibility Test ◽

Clinical Laboratory Standard Institute ◽

European Committee ◽

Clinical Laboratory Standard ◽

Antibiotic Susceptibility Test

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Tendência de resistência entre isolados clínicos de Staphylococcus aureus em um hospital universitário do norte do Paraná de 2002 a 2011

Semina Ciências Biológicas e da Saúde ◽

10.5433/1679-0367.2015v36n1suplp275 ◽

2015 ◽

Vol 36 (1Supl) ◽

pp. 275

Author(s):

Marcia Regina Eches Perugini ◽

Vitor Hugo Perugini ◽

Ana Rúbia Magalhães Ferreira ◽

Caio Ferreira de Oliveira ◽

Guilherme Teixeira Gomes ◽

...

Keyword(s):

Staphylococcus Aureus ◽

Clinical Laboratory ◽

Clinical Laboratory Standard Institute ◽

Clinical Laboratory Standard

Staphylococcus aureus são patógenos com alta ocorrência em infecções hospitalares e comunitárias e têm grande capacidade de adquirir resistência. O objetivo deste estudo foi determinar o perfil de resistência aos antimicrobianos de S. aureus isolados no Hospital Universitário de Londrina de janeiro de 2002 a dezembro de 2011. A análise retrospectiva de 3.494 S. aureus foi realizada a partir de um banco de dados do setor de Microbiologia do Laboratório Clínico do Hospital Universitário de Londrina (HUL). Resistência aos antimicrobianos foi determinada de acordo com os critérios recomendados pelo Clinical Laboratory Standard Institute (CLSI-2011). Os maiores percentuais de resistência foram verificados para eritromicina (49,4%), oxacilina, clindamicina (41,8%) e ciprofloxacina (36,5%). Adicionalmente, ocorreu redução significativa nas taxas de resistência à gentamicina, e a sulfametoxazol-trimetoprim. Todas as cepas analisadas foram sensíveis à linezolide. Verificou-se que 40% apresentaram susceptibilidade reduzida à vancomicina. Estes dados revelaram uma provável mudança na epidemiologia de S. aureus na nossa região, o que pode trazer impacto no tratamento e controle da infecção por este agente etiológico.

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Identifikasi Pseudomonas aeruginosa dan Uji Sensitivitas terhadap Antibiotik dari Sampel Pus Infeksi Luka Operasi di RSUD Dr. Moewardi

Biomedika ◽

10.31001/biomedika.v10i2.271 ◽

2018 ◽

Vol 10 (2) ◽

pp. 18-24

Author(s):

Aulia Wahyu Sulviana ◽

Nony Puspawati ◽

Rizal Maarif Rukmana

Keyword(s):

Pseudomonas Aeruginosa ◽

Clinical Laboratory ◽

Cross Sectional ◽

Clinical Laboratory Standard Institute ◽

Clinical Laboratory Standard ◽

Selective Agar

Infeksi luka operasi merupakan bagian dari infeksi nosokomial. Salah satu bakteri penyebab tertinggi infeksi luka operasi adalah Pseudomonas aeruginosa. Penelitian ini bertujuan untuk mengetahui adanya Pseudomonas aeruginosa pada sampel pus infeksi luka operasi dari Rumah Sakit Umum Daerah Dr. Moewardi dan untuk mengetahui pola sensitivitasnya terhadap beberapa antibiotik. Jenis penelitian ini adalah penelitian analitik observasional dengan pendekatan cross sectional. Bakteri Pseudomonas aeruginosa yang telah diisolasi dari sampel pada media Pseudomonas Selective Agar lalu dilakukan pengecatan Gram dan uji biokimia, kemudian dilakukan uji sensitivitas terhadap beberapa antibiotik yaitu: siprofloksasin, seftriakson, meropenem, sefotaksim, gentamisin, dan tobramisin dengan metode difusi Kirby Bauer. Hasil diameter zona hambat pada uji sensitivitas dibandingkan dengan standar diameter zona hambat menurut Clinical Laboratory Standard Institute. Hasil penelitian menunjukkan bahwa dari 45 sampel pus infeksi luka operasi di Rumah Sakit Umum Daerah Dr. Moewardi teridentifikasi 11 sampel positif Pseudomonas aeruginosa. Hasil uji sensitivitas menunjukkan bahwa Pseudomonas aeruginosa sensitif 100% terhadap meropenem. Hasil uji sensitivitas menunjukkan sensitif 90,90% terhadap siprofloksasin, tobramisin dan gentamisin. Hasil uji sensitivitas menunjukkan sensitif 63,63% pada seftriakson dan hasil uji sensitivitas menunjukkan sensitif 9,09% pada sefotaksim.

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