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1.
Case Rep Urol ; 2017: 1410843, 2017.
Article in English | MEDLINE | ID: mdl-29430318

ABSTRACT

Inflammatory myofibroblastic tumors (IMT) are distinctive lesions of unknown etiology, composed of myofibroblastic spindle cells with an associated inflammatory background. They can occur in a wide age range and at all anatomic sites, but most frequently they can be observed in the lung (especially in pediatric cases), abdomen, or retroperitoneum. The urinary bladder is one of the most common sites in urological cases. We present a very rare case of IMT of the testis. Clinically, a 40-year-old patient showed a palpable painless lesion of the right testis. Ultrasound examination showed two solid intratesticular foci. During surgical intervention, the intraoperative frozen section revealed mesenchymal tumors admixed with an uncommon inflammatory infiltrate, consistent with a reorganized abscess. Despite the benign result, orchiectomy was performed due to the multifocal presentation and the large size of 3 cm. The final diagnosis was IMT without ALK-rearrangement. Incomplete resection increases the risk of local relapses to 30%. In this case, a complete resection could be achieved and the patient is free of tumor 15 months later.

2.
Notes Rec R Soc Lond ; 67(1): 25-36, 2013 Mar 20.
Article in English | MEDLINE | ID: mdl-24686919

ABSTRACT

Most discussions of John Maynard Keynes's activities in connection with Newton are restricted to the sale in 1936 at Sotheby's of Newton's Portsmouth Papers and to Keynes's 1946 essay 'Newton, the Man'. This paper provides a history of Keynes's Newton-related work in the interim, highlighting especially the events of 1942 and 1943, which were particularly relevant to the Royal Society's role in the domestic and international promotion of Newton's legacy. During this period, Keynes lectured twice on Newton, leaving notes that would later be read by his brother Geoffrey in the famous commemoration of the Newton tercentenary in 1946. In 1943 Keynes assisted the Royal Society in its recognition of the Soviet celebrations and in the acquisition and preservation of more of the Newton library. In each instance Keynes took the opportunity to promote his interpretation of Newton as 'the last of the magicians': a scientist who had one foot in the pre-modern world and whose approach to understanding the world was as much intuitive as it was methodical.

3.
Forensic Sci Int Genet ; 3(3): e77-80, 2009 Jun.
Article in English | MEDLINE | ID: mdl-19414156

ABSTRACT

17 Y-STRs (DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635 or Y-GATA C4, DYS392, Y-GATA H4, DYS437, DYS438 and DYS448) have been analyzed in 320 male individuals from Sarawak, an eastern state of Malaysia on the Borneo island using the AmpFlSTR Y-filer (Applied Biosystems, Foster City, CA). These individuals were from three indigenous ethnic groups in Sarawak comprising of 103 Ibans, 113 Bidayuhs and 104 Melanaus. The observed 17-loci haplotypes and the individual allele frequencies for each locus were estimated, whilst the locus diversity, haplotype diversity and discrimination capacity were calculated in the three groups. Analysis of molecular variance (AMOVA) indicated that 87.6% of the haplotypic variation was found within population and 12.4% between populations (fixation index F(ST)=0.124, p=0.000). This study has revealed that the indigenous populations in Sarawak are distinctly different to each other, and to the three major ethnic groups in Malaysia (Malays, Chinese and Indians), with the Melanaus having a strikingly high degree of shared haplotypes within. There are rare unusual variants and microvariants that were not present in Malaysian Malay, Chinese or Indian groups. In addition, occurrences of DYS385 duplications which were only noticeably present in Chinese group previously was also observed in the Iban group whilst null alleles were detected at several Y-loci (namely DYS19, DYS392, DYS389II and DYS448) in the Iban and Melanau groups.


Subject(s)
Chromosomes, Human, Y , Ethnicity/genetics , Genetics, Population , Haplotypes , Microsatellite Repeats , Alleles , DNA/genetics , DNA/isolation & purification , DNA Fingerprinting , Gene Frequency , Genetic Variation , Geography , Humans , Malaysia , Male , Nucleic Acid Amplification Techniques , Polymerase Chain Reaction , Quality Control
4.
Forensic Sci Int ; 167(1): 70-6, 2007 Mar 22.
Article in English | MEDLINE | ID: mdl-16457976

ABSTRACT

We have analyzed 16 Y-STR loci (DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635 or Y-GATA C4, DYS392, Y-GATA H4, DYS437, DYS438 and DYS448) from the non-recombining region of the human Y-chromosome in 980 male individuals from three main ethnic populations in Malaysia (Malay, Chinese, Indian) using the AmpFlSTR((R)) Y-filertrade mark (Applied Biosystems, Foster City, CA). The observed 17-loci haplotypes and the individual allele frequencies for each locus were estimated, whilst the locus diversity, haplotype diversity and discrimination capacity were calculated in the three ethnic populations. Analysis of molecular variance indicated that 88.7% of the haplotypic variation is found within population and 11.3% is between populations (fixation index F(ST)=0.113, p=0.000). This study has revealed Y-chromosomes with null alleles at several Y-loci, namely DYS458, DYS392, DYS389I, DYS389II, DYS439, DYS448 and Y-GATA H4; and several occurrences of duplications at the highly polymorphic DYS385 loci. Some of these deleted loci were in regions of the Y(q) arm that have been implicated in the occurrence of male infertility.


Subject(s)
Chromosomes, Human, Y , Ethnicity/genetics , Genetics, Population , Haplotypes , Tandem Repeat Sequences , DNA Fingerprinting , Gene Frequency , Humans , Malaysia , Male , Polymerase Chain Reaction
5.
Forensic Sci Int ; 166(2-3): 115-20, 2007 Mar 02.
Article in English | MEDLINE | ID: mdl-16765004

ABSTRACT

The use of STR multiplexes with the incorporated gender marker Amelogenin is common practice in forensic DNA analysis. However, when a known male sample shows a dropout of the Amelogenin Y-allele, the STR system falsely genotypes it as a female. To date, our laboratory has observed 18 such cases: 12 from our Y-STR database and six from casework. A study on 980 male individuals in the Malaysian population using the AmpFlSTR Y-filer has revealed a distinct Y-chromosome haplotype associated with the Amelogenin nulls. Our results showed that whilst the Amelogenin nulls were noticeably absent among the Chinese, both the Indians and Malays exhibited such mutations at 3.2 and 0.6%, respectively. It was also found that the Amelogenin negative individuals predominantly belonged to the J2e lineage, suggesting the possibility of a common ancestor for at least some of these chromosomes. The null frequencies showed concordance with the data published in Chang et al. [Higher failures of Amelogenin sex test in an Indian population group, J. Forensic Sci. 48 (2003) 1309-1313] on a smaller Malaysian population of 338 males which used a Y-STR triplex. In the current study, apart from the absence of the Amelogenin Y-locus, a complete absence of the DYS458 locus in all the nulls was also observed. This study together with the 2003 study has indicated a similar deletion region exists on the Y(p)11.2 band in all the 18 Y-chromosomes. Using bioinformatics, this deletion has been mapped to a region of at least 1.13 Mb on the Y(p)11.2 encompassing the Amelogenin, MSY1 minisatellite and DYS458 locus. Further, the Y-filer haplotypes revealed an additional null at Y-GATA H4 in two of the Indian males presented here.


Subject(s)
Amelogenin/genetics , Chromosome Deletion , Chromosomes, Human, Y , Haplotypes , Tandem Repeat Sequences , Asian People/genetics , DNA Fingerprinting , Genetics, Population , Humans , Malaysia , Male , Polymerase Chain Reaction , White People/genetics
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