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Breast cyst fluid proteins and breast cancer.

A specific breast cyst fluid protein was purified by the following steps: ultracentrifugation, gel filtration, DEAE and Con A chromatography, and gel filtration with guanidine, 6 M. The protein was pure, having a molecular weight of 17,800 daltons on SDS-PAGE and 68,000 daltons on gel filtration. The GCDFP 17,800 is immunologically distinct from other breast cyst fluid components and known milk and plasma proteins. A specific radioimmunoassay was developed and used to determine GCDFP 17,800 in 158 samples of breast cancer cytosol. The GCDFP 17,800 levels were significantly different between gr

Surveillance for sickle cell disease, United Republic of Tanzania.

OBJECTIVE: To determine the regional- and district-level newborn prevalence of sickle cell trait and disease, and the prevalence of haemoglobin variants and genetic modifiers of sickle cell disease, in the nine regions of north-western United Republic of Tanzania. METHODS: We repurposed dried blood spot samples from children (aged 0-24 months) born to mothers living with human immunodeficiency virus (HIV), collected as part of the HIV Early Infant Diagnosis programme, for sickle cell diagnosis. We performed isoelectric focusing to determine whether samples had normal haemoglobin, sickle cell …

Modifications of DJ-1 in which pI shifts to acidic in red blood cells a potential biomarker for Parkinson's disease at early stages.

Parkinson's disease (PD) is one of the most common neurodegenerative diseases, the incidence of which increases with age. However, since there is no fundamental treatment or methods for early diagnosis, new methods of treatment and diagnosis are urgently needed. We focused on post-translational modifications of DJ-1, which is encoded by the familial PD-causative gene PARK7 in red blood cells (RBCs). DJ-1 has three cysteines (Cys46, Cys53, and Cys106), with Cys106 being preferentially oxidized. We previously reported that sulfinated/sulfonated Cys106 DJ-1 (oxDJ-1) is increased in the RBCs of PD

Glutathione S-transferases in normal and malignant human colon tissue.

This study focuses on the GST composition of a tissue intrinsically resistant to chemotherapy, the human colon. GSTs were purified from matched pairs of colon tissue (normal and tumor) using glutathione affinity chromatography. The mean GST activity of colon tumors was 1.5-fold higher than that of normal tissue, with tumors of the sigmoid colon showing the greatest increase (2.3-fold). Two-dimensional gel electrophoresis and Western blot analysis of purified enzymes demonstrated the presence of all three GST classes (alpha, mu and pi) in colon, with GST pi being both the predominant isozyme in

Newborn screening results for sickle cell disease from the ASH Consortium on Newborn Screening in Africa (CONSA).

The Consortium on Newborn Screening in Africa (CONSA), launched by the American Society of Hematology in 2020, is designed to initiate and expand sustainable newborn screening (NBS) programs for sickle cell disease (SCD) across sub-Saharan Africa. This multiyear pilot program includes 11 clinical sites in 7 countries, namely Ghana, Kenya, Liberia, Nigeria, Tanzania, Uganda, and Zambia. After extensive training of laboratory and clinical personnel, dried blood spots were collected from newborns and tested by isoelectric focusing at central laboratories within each country. Positive samples were…

Kappa Free Light Chain Index in the Real World-Do We Miss Clinically Relevant Information by Skipping Oligoclonal Banding?

BACKGROUND: No standardized strategy for integrating κ-free light chain (κ-FLC) index into routine cerebrospinal fluid (CSF) diagnostics has yet been established. OBJECTIVE: To determine agreement between κ-FLC index and CSF-restricted oligoclonal bands (OCB), and to identify κ-FLC index range where second-line OCB testing is needed. METHODS: A retrospective analysis was conducted in patients who had κ-FLC measurement between December 2023 and December 2024 at the Medical University of Innsbruck. κ-FLC in CSF and serum was determined by nephelometry; OCB by isoelectric focusing and immunoblo…

Kappa Free Light Chain Index and Oligoclonal Bands in Varicella Zoster Virus Infection and Neuroborreliosis: A Matter of Timing?

BACKGROUND: The diagnosis of Varicella-zoster virus related neurological disease (VZD) and Lyme neuroborreliosis (LNB) is based on clinical presentation as well as cerebrospinal fluid (CSF) results. OBJECTIVES: To evaluate and compare the diagnostic utility of oligoclonal bands (OCB) and the κ-free light chain (FLC) index in patients with VZD and LNB. METHODS: Patients with the diagnosis of VZD or LNB at the Department of Neurology of the Medical University of Innsbruck between 2008 to 2020 were included. OCB were determined by isoelectric focusing followed by immunoblotting, κ-FLC were meas…

Оптимизированный испытательный протокол Каппа-Индекс для обнаружения внутриутробного синтеза иммуноглобулина в множестве склерозов.

СВЯЗЬ: Свободная цепочка освещения (KFLC), основанная на Kappa-index (K-index), может заменить олигоклональную ленту (OCB) для обнаружения внутритехекулярного синтеза иммуноглобулина. Предельные значения для позитивных результатов различаются; поэтому для оптимизации К-индекса для диагностического использования необходимо провести дополнительное сопоставление различных подходов. МЕТОДЫ: Мы проанализировали 432 пары проб CSF/сейрумы и отобрали 77 пациентов с положительной реакцией на OCB с множественным склерозом (MS), клинически изолированным синдромом (CIS), который не достиг уровня MS в тече

Совпадение в аннотации оригинала
BACKGROUND: Kappa free light chain (KFLC)-based Kappa-index (K-index) can substitute oligoclonal banding (OCB) to detect intrathecal immunog … s (non-MS). K-index subtests were measured on the Optilite platform (The Binding Site) and OCB with isoelectric focusing on the Hydrasys platform (Sebia). RESULTS: OCB positive cases had a higher K-index than OCB negative. The MS group had a higher K-index than CIS (p = 0.0066) and non-MS (p < 0.0001). A K-index over 80.9 suggests MS over CIS, and 61.4 suggests MS ov …

MALDI-MS in first-line screening of newborns for sickle cell disease: results from a prospective study in comparison to HPLC.

OBJECTIVES: Newborn screening (NBS) for sickle cell disease (SCD) requires a robust, high-throughput method to detect hemoglobin S (HbS). Screening for SCD is performed by qualitative methods, such as isoelectric focusing (IEF), and both qualitative and quantitative methods such as high performance liquid chromatography (HPLC), capillary electrophoresis (CE), and tandem mass spectrometry (MS/MS). All these methods detect HbS, as well as low-level or absent HbA, and also other variants of hemoglobin. HPLC is considered as a reference method for NBS, because of its high sensitivity and specifici…

Plasma proteome alterations by MAPK inhibitors in BRAFV600-mutated metastatic cutaneous melanoma.

Approximately half of metastatic cutaneous melanomas (CM) harbor a mutation in the BRAF protooncogene, upregulating the mitogen-activated pr … ally, plasma from 9 patients treated with BRAFi and MEKi was analyzed with in-depth high-resolution isoelectric focusing liquid-chromatography mass-spectrometry proteomics. Alterations of plasma proteins involved in granzyme and interferon gamma pathways were detected in patients treated with BRAFi, and cell adhesion-, neutrophil degranulation-, and proteolysis pathwa …

Effects of Natalizumab Therapy on Intrathecal Immunoglobulin G Production Indicate Targeting of Plasmablasts.

OBJECTIVES: To evaluate the long-term effects of natalizumab (NTZ) on different features of intrathecal immunoglobulin (Ig) synthesis in pat … , and oligoclonal bands (OCBs). Banding patterns before and after therapy were directly compared by isoelectric focusing in 1 patient. In addition, we determined the expression of α4-integrin by FACS analysis on blood-derived B-cell subsets (plasmablasts, memory B cells, and naive B cells) of healthy controls. RESULTS: In serum, NTZ decreased IgM and IgG, but not IgA …

Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report.

Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases with the phosphomannomutase 2 (PMM2)-CDG being … effusion leading to patient death at the age of 3 months. Screening for CDG performed by the use of isoelectric focusing of serum transferrin showed a typical PMM2-CDG pattern. Exome sequencing revealed one common pathogenic variant (c.691G > A/p.Val231Met) and one novel variant (c.447 + 3dupA) in the PMM2 gene. Both PMM2 variants were further confirmed by Sanger sequ …

α-1 Antitrypsin Genotype-Phenotype Discrepancy in a 42-Year-Old Man Who Carries the Null-Allele.

BACKGROUND: Alpha-1-antitrypsin (A1AT) deficiency is a hereditary condition caused by mutations in the SERPINA1 gene and associated with lun … concentration was measured using an immunoturbidimetric assay. A1AT phenotype was determined using isoelectric focusing followed with immunofixation (IEF-IF). Genotyping specifically for the S and Z allele was performed by melting curve analysis using real-time PCR and checked by an alternative PCR-RFLP method. Genotype/phenotype ambiguity and discrepancy were amende …

Lipid-specific immunoglobulin M bands in cerebrospinal fluid are associated with a reduced risk of developing progressive multifocal leukoencephalopathy during treatment with natalizumab.

OBJECTIVE: Progressive multifocal leukoencephalopathy (PML) is a serious side effect associated with natalizumab treatment in multiple scler … atalizumab treatment. Patients were recruited at 25 university hospitals. IgM bands were studied by isoelectric focusing and immunodetection. CSF lymphocyte counts were explored in 151 MS patients recruited at Ramon y Cajal Hospital in Madrid, Spain. RESULTS: IgM bands were independently associated with decreased PML risk (odds ratio [OR] = 45.9, 95% confidence inter …

Molecular analysis of a prolonged spread of Klebsiella pneumoniae co-producing DHA-1 and SHV-12 β-lactamases.

The study investigated molecular mechanisms for prolonged nosocomial spread of multidrug-resistant Klebsiella pneumoniae co-producing plasmid-mediated AmpC β-lactamase DHA-1 and extended-spectrum β-lactamase SHV-12. Forty-eight clinical isolates of K. pneumonia, resistant to the extended-spectrum cepha-losporins, were collected in a 750-bed university hospital over a year. The isolates were characterized for PCR-based β-lactamase genotypes, isoelectric focusing and pulsed-field gel electrophoresis (PFGE) profiles. Resistance transfer was performed by plasmid conjugation and confirmed by a dupl…

CTX-M-producing Escherichia coli in a maternity ward: a likely community importation and evidence of mother-to-neonate transmission.

OBJECTIVES: To investigate the high prevalence of extended-spectrum beta-lactamase (ESBL)-producing strains of Escherichia coli (4%, 10/250 consecutive isolates) recovered during a 5 month period in the maternity ward of the University Hospital of Bordeaux, France. METHODS: beta-Lactam resistance transfer was analysed by conjugation and transformation. ESBLs were characterized by isoelectric focusing, PCR amplification and sequencing. The relatedness of the strains was examined by PFGE and phylogenetic group determination. Plasmids were characterized by incompatibility group and restriction a…

Diversity of extended-spectrum beta-lactamases and class C beta-lactamases among cloacal Escherichia coli Isolates in Belgian broiler farms.

A total of 295 ceftiofur-resistant Escherichia coli isolates were obtained from 489 cloacal samples collected at five different Belgian broi … titive extragenic palindromic-PCR, 51 unrelated E. coli strains were selected for further analyses. Isoelectric focusing and sequencing of the amplicons obtained in PCRs for the detection of genes encoding broad-spectrum beta-lactamase enzymes revealed the following ESBLs: TEM-52 (13.2%), TEM-106 (2%), CTX-M-1 (27.4%), CTX-M-2 (7.8%), CTX-M-14 (5.9%), and CTX-M-15 (2% …

Proteomic profiling identifies afamin as a potential biomarker for ovarian cancer.

PURPOSE: To discover and validate serum glycoprotein biomarkers in ovarian cancer using proteomic-based approaches. EXPERIMENTAL DESIGN: Se … for CA-125 being 0.92 and 0.88 although corresponding figures for a subgroup of samples analyzed by isoelectric focusing for afamin isoform 2 were 0.85 and 0.79. Analysis of a further 121 samples collected prospectively from 9 patients pretreatment through to relapse indicated complementarity of afamin with CA-125, including two cases in whom CA-125 was noninformative …

[Advances in neuroimmunological laboratory studies on neuromuscular diseases].

The recent methodological advances in molecular biology, immunology, and genetics have clarified neuroimmunological problems in axonal Guill … n. These autoantibodies to the extracellular domain of MuSK inhibit its function in tissue culture. Isoelectric focusing (IEF) and agar gel electrophoresis (AGE) are used to examine cerebrospinal fluid (CSF) and sera from patients with multiple sclerosis (MS). The CSF oligoclonal IgG bands (OB) are less frequently observed in Japanese MS patients compared with Caucasi …