Contrast-enhanced voiding urosonography, part 1: vesicoureteral reflux evaluation.

Contrast-enhanced voiding urosonography (ceVUS) is a well-established, sensitive and safe ultrasound (US) modality for detecting and grading vesicoureteral reflux (VUR) and urethral imaging in children. Nearly three decades of remarkable advances in US technology and US contrast agents have refined ceVUS's diagnostic potential. The recent approval of Lumason/SonoVue in the United States, Europe and China for pediatric intravesical applications marked the beginning of a new era for this type of contrast US imaging. Consequently, the use of ceVUS in children has expanded to multiple places around the globe. In the first part of this review article, we describe the current experience in the use of ceVUS for VUR evaluation, with an emphasis on historical background, examination technique, image interpretation and diagnostic accuracy. In the second part, we will present the role of ceVUS for urethral imaging in children.

The genomic ancestry of Jat Sikh population from Northwest India inferred from 15 autosomal STR markers using capillary electrophoresis.

BACKGROUND: Autosomal STR typing using capillary electrophoresis is a reliable method for establishing parentage and for deciphering genomic ancestry. AIM: This study was planned to show the genetic diversity of the Jat Sikh population, which is a widespread community of the Punjab region, and to assess its genetic relationship with existing Indian populations. SUBJECTS AND METHODS: Blood samples of unrelated healthy individuals of the Jat Sikhs (n = 123) were used in this study. Fifteen autosomal STR markers along with the sex determination genetic marker Amelogenin were amplified using AmpFlSTR®Identifiler® Plus kit, and genetic analyser 3100 was used for genotyping. RESULTS: A total of 246 alleles were observed with allele frequencies ranging from 0.004 to 0.447. The heterozygosity ranged from 0.659 to 0.886, and all studied loci were in Hardy-Weinberg Equilibrium (HWE). Fibrinogen A alpha (Aα) chain (FGA) was found to be the most polymorphic and also the most discriminating locus in the studied population. Neighbor-joining (NJ) tree, principal component analysis (PCA) plot, and Nei's Distance matrix revealed genetic affinity with the previously reported Jatt Sikh (Punjab) population and showed the outlier nature of this population compared with other Indian populations. CONCLUSION: The data generated by this study enhance the database of Indian populations to be used in civil and forensic cases and also in other population-based genetic studies.

Congenital syphilis, the great mimicker, confused with non-accidental trauma.

Congenital syphilis (CS) remains a major health problem worldwide. Children born with CS can present with variable symptoms that can mimic other disease processes. This report describes the case of a 4-month-old infant who presented with the left wrist swelling and distal radial fracture, causing concern for non-accidental trauma (NAT). An osseous survey showed additional findings and led to the correct diagnosis. Although radiographic features of NAT may overlap with CS, certain features such as bilaterally symmetrical skeletal involvement and metaphyseal destruction, as seen in our case, can help distinguish between the two.

Polygenic study of endurance-associated genetic markers ACE I/D, ACTN3 Arg(R)577Ter(X), CKMM A/G NcoI and eNOS Glu(G)298Asp(T) in male Gorkha soldiers.

BACKGROUND: Gorkhas, a sub-mountainous population of the Himalayan region, are known for strength and bravery. In the present study when "Gorkha" is used without brackets, we are mentioning Gorkhas of Tibeto-Burman origin. Physical capability, strength and endurance are important components of fitness associated with genetic traits. The aim of this study was to examine the endurance potential of male Gorkha soldiers, based on endurance-related genetic markers ACE I/D, ACTN3 Arg (R)577Ter(X), CKMM A/G NcoI and eNOS Glu(G)298Asp(T). METHODS: Genotypic and allelic frequencies were determined in 374 male Gorkha soldiers (Tibeto-Burman). These frequencies were compared with frequencies obtained from Gorkha (Indo-Aryan), high-altitude natives (Tibeto-Burman) and Indian lowlanders (Indo-Aryan). "Total genotype score" (TGS) was calculated from accumulated combination of polymorphisms with maximum value "100" for theoretically "optimal" polygenic score. Probability of occurrence of "optimal" endurance profile was also determined. RESULTS: ACE II genotypic frequency was highest in Tamangs followed by Gurungs, Rais, Limbus and Magars. No statistical difference in genotypic and allelic frequency of ACTN3 Arg(R)577Ter(X) was noted within the groups. Rais showed the highest CKMM A allele frequency (0.908) compared to other Gorkha (Tibeto-Burman) groups. Limbus and Tamangs showed the highest eNOS G allele frequency (0.938 and 0.915, respectively) compared to that of other groups. Probability of male Gorkha soldiers possessing a theoretically optimal polygenic endurance profile for four candidate polymorphisms was ~3.35% (1 in 30). Four percent of the population of male Gorkha soldiers (15 in 374) exhibited an optimal TGS 100, and 16% exhibited TGS 87 for endurance compared to male Indian soldiers belonging to the lowland (Indo-Aryan) and Gorkha (Indo-Aryan) populations suggesting an overall more "favourable" polygenic profile in the male Gorkha soldier (Tibeto-Burman) population. CONCLUSIONS: This study presents evidence of higher frequency of endurance-associated genes in the Gorkhas implying thereby that such genetically endowed individuals from the population may be selected and trained for achieving excellence in endurance-related elite sports activities.

Genetic Diversity in Gorkhas: an Autosomal STR Study.

Genotyping of highly polymorphic autosomal short tandem repeat (STR) markers is a potent tool for elucidating genetic diversity. In the present study, fifteen autosomal STR markers were analyzed in unrelated healthy male Gorkha individuals (n = 98) serving in the Indian Army by using AmpFlSTR Identifiler Plus PCR Amplification Kit. In total, 138 alleles were observed with corresponding allele frequencies ranging from 0.005 to 0.469. The studied loci were in Hardy-Weinberg Equilibrium (HWE). Heterozygosity ranged from 0.602 to 0.867. The most polymorphic locus was Fibrinogen Alpha (FGA) chain which was also the most discriminating locus as expected. Neighbor Joining (NJ) tree and principal component analysis (PCA) plot clustered the Gorkhas with those of Nepal and other Tibeto-Burman population while lowlander Indian population formed separate cluster substantiating the closeness of the Gorkhas with the Tibeto-Burman linguistic phyla. Furthermore, the dataset of STR markers obtained in the study presents a valuable information source of STR DNA profiles from personnel for usage in disaster victim identification in military exigencies and adds to the Indian database of military soldiers and military hospital repository.