scholarly journals Sanger Sequencing for BRCA1 c.68_69del, BRCA1 c.5266dup and BRCA2 c.5946del Mutation Screen on Pap Smear Cytology Samples

2016 ◽  
Vol 17 (2) ◽  
pp. 229 ◽  
Author(s):  
Sin Lee ◽  
Shaoxia Zhou ◽  
Tianjun Zhou ◽  
Guofan Hong
Keyword(s):  
Sanger Sequencing ◽  
Pap Smear ◽  
Mutation Screen

Abnormal Pap Smear Rates Fall Since HPV Vaccine

2008 ◽  
Vol 38 (8) ◽  
pp. 22
Author(s):  
JANE SALODOF MACNEIL
Keyword(s):  
Hpv Vaccine ◽  
Pap Smear

A Numerically Coded File of Operative Procedures Derived from a Free Text Data Collection System : A Measure of the Accuracy

1976 ◽  
Vol 15 (01) ◽  
pp. 21-28 ◽  
Author(s):  
Carmen A. Scudiero ◽  
Ruth L. Wong
Keyword(s):  
Data Collection ◽  
Pap Smear ◽  
Operative Procedures ◽  
Free Text ◽  
Collection System ◽  
Process Data ◽  
Text Data ◽  
Data Collection System ◽  
History Of ◽  
Correlation System

A free text data collection system has been developed at the University of Illinois utilizing single word, syntax free dictionary lookup to process data for retrieval. The source document for the system is the Surgical Pathology Request and Report form. To date 12,653 documents have been entered into the system.The free text data was used to create an IRS (Information Retrieval System) database. A program to interrogate this database has been developed to numerically coded operative procedures. A total of 16,519 procedures records were generated. One and nine tenths percent of the procedures could not be fitted into any procedures category; 6.1% could not be specifically coded, while 92% were coded into specific categories. A system of PL/1 programs has been developed to facilitate manual editing of these records, which can be performed in a reasonable length of time (1 week). This manual check reveals that these 92% were coded with precision = 0.931 and recall = 0.924. Correction of the readily correctable errors could improve these figures to precision = 0.977 and recall = 0.987. Syntax errors were relatively unimportant in the overall coding process, but did introduce significant error in some categories, such as when right-left-bilateral distinction was attempted.The coded file that has been constructed will be used as an input file to a gynecological disease/PAP smear correlation system. The outputs of this system will include retrospective information on the natural history of selected diseases and a patient log providing information to the clinician on patient follow-up.Thus a free text data collection system can be utilized to produce numerically coded files of reasonable accuracy. Further, these files can be used as a source of useful information both for the clinician and for the medical researcher.

THE NUCLEAR FACTOR OF HEPATOCYTES 1β (HNF1β)–ASSOCIATED DISEASE. CLINIC, DIAGNOSTIC, TREATMENT (LITERATURE REVIEW AND CLINICAL OBSERVATION)

2019 ◽  
Vol 23 (2) ◽  
pp. 100-108
Author(s):  
S. V. Papizh ◽  
O. R. Piruzieva
Keyword(s):  
Sanger Sequencing ◽  
Clinical Observation ◽  
Liver Enzymes ◽  
Renal Ultrasound ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Renal Hypoplasia ◽  
Unilateral Renal Agenesis ◽  
Elevated Liver Enzymes ◽  
Medullary Nephrocalcinosis

Hepatocyte nuclear factor 1β (HNF1β)-associated disease is a rare autosomal dominant disease caused by various mutations in the HNF1β gene coding the hepatocyte nuclear factor 1β. HNF1β is a transcription factor that is critical for the development of kidney urogenital tract, pancreas, liver, brain, and parathyroid gland. Renal phenotype or HNF1β- nephropathy appeared to be extremely heterogenic: multicystic renal dysplasia, renal hypoplasia, unilateral renal agenesis, horseshoe kidney, atypical familial juvenile hyperuricemic nephropathy, urinary tract malformations and tubular dysfunction. Extrarenal phenotype of HNF1β-associated disease could be maturity-onset diabetes of the young (MODY), pancreatic atrophy and exocrine pancreatic dysfunction, elevated liver enzymes, neonatal cholestasis, congenital abnormalities of the genital tract, hyperparathyroidism, neurological symptoms. The multisystem phenotype makes clinical verification of the diagnosis extremely difficult. In this article, we present a clinical observation of a child with HNF1β – associated disease. The first clinical presentation of HNF1β-associated disease was ultrasound changes in the kidneys (hyperechogenic kidneys?), which were detected by prenatal ultrasonography in pregnancy. Renal ultrasound revealed polycystic kidney disease in the first days of life and bilateral medullary nephrocalcinosis by the age of three. The clinical examination showed a reduced renal function and developed Fanconi syndrome (glycosuria, low molecular proteinuria, hypophosphatemia, aminoaciduria, hyperuricosuria) in the first year of life. Also the child had a non-constant asymptomatic elevation of liver enzymes, hyperparathyroidism, osteoporosis. The diagnosis was confirmed by the results of next generation sequencing which revealed novel heterozygous mutation in exon 4 of the HNF1b gene (chr17: 36091813C>T), p.Cys273Tyr (c.818G>A). The identified mutation was validated by Sanger sequencing. Validation by Sanger sequencing did not reveal a chr17: 36091813C>T mutation in parents, which suggested the appearance of a mutation in the child de novo.

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