Patent urachus with bladder prolapse

We report a term neonate with a congenital patent urachus with bladder prolapse. Initial antenatal fetal morphology ultrasound at 13 weeks gestation revealed a large midline pelvic cyst communicating with the bladder which disappeared on subsequent 23 week ultrasound and instead a small umbilical mass was seen, suspicious of omphalocoele. At birth, an umbilical eversion of the bladder dome through a patent urachus was found and operated on a second day of life with excision of the prolapse and bladder closure. There were no other co-existing anomalies and postoperative complications.With increased reporting on bladder prolapse through a patent urachus, we present a case report with a brief review of published literature. Keywords: Patent urachus, Bladder prolapse, Bladder eversio

Role of chemoports in children with hematological/solid tumor malignancies - Technical implications and complications: An institutional experience

Aim: The aim of this retrospective analysis was to identify the variously related complications and to study preventive and therapeutic measures for these complications. Materials and Methods: A total of 72 catheters were inserted in 69 patients (mean follow-up of 1140 days) from December 2002 to May 2017. Sixty-four children were diagnosed to have hematological malignancies, and five children had solid tumors. The youngest child was 2 months of age, and the oldest was 15 years, 5 months. Records were analyzed retrospectively for the age, indication, route of insertion, and postoperative complications. A protocol-based insertion and postinsertion handling by trained nursing staff/doctors were instituted, including a periodic training program for those concerned. Results: Chemoport-related complications were infection in 3 (4.16%), necessitating port removal in one patient. The rest were managed by antibiotic-lock therapy. The other problems were catheter tip occlusion in 1 (1.38%) and extravasation in two patients (2.77%) leading to a sterile collection around the port chamber. An unsightly scar in 4 (5.55%) and granuloma formation at scar site in 1 (1.38%) patient were noted. Conclusion: Totally implantable chemoports are preferred in children with solid and hematological malignancies because of decreased pain, the rate of infection, and ability to maintain patency for the long term. Despite significant advantages over other types of central venous access, chemoports have their own complications. It was also noted that the rate of complications could be minimized by periodic training of all the personnel concerned and following protocol-based handling of ports

The Synthetic Opioid Fentanyl Increases HIV Replication and Chemokine Co-Receptor Expression in Lymphocyte Cell Lines

Background: In the United States, the illicit use of synthetic opioids such as fentanyl has led to a serious public health crisis. Synthetic opioids are known to enhance viral replication and to suppress immunologic responses, but their effects on HIV pathogenesis remain unclear. Thus, we examined the impact of fentanyl on HIV-susceptible and HIV-infected cell types. Methods: TZM-bl and HIV-infected lymphocyte cells were incubated with fentanyl at varying concentrations. Expression levels of the CXCR4 and CCR5 chemokine receptors and HIV p24 antigen were quantified with ELISA. HIV proviral DNA was quantified using SYBR RT-PCR. Cell viability was detected with the MTT assay. RNAseq was performed to characterize cellular gene regulation in the presence of fentanyl. Results: Fentanyl enhanced expression of both chemokine receptor levels in a dose-dependent manner in HIV-susceptible and infected cell lines. Similarly, fentanyl induced viral expression in HIV-exposed TZM-bl cells and in HIV-infected lymphocyte cell lines. Multiple genes associated with apoptosis, antiviral/interferon response, chemokine signaling, and NFκB signaling were differentially regulated. Conclusions: Synthetic opioid fentanyl impacts HIV replication and chemokine co-receptor expression. Increased virus levels suggest that opioid use may increase the likelihood of transmission and accelerate disease progression

Culture-positive unilateral panophthalmitis in a serology-positive case of dengue hemorrhagic fever

Dengue fever, a mosquito-borne disease commonly found in the tropics, is one of the most prevalent forms of Flavivirus infection in humans. Symptomatically, it is characterized by fever, arthralgia, headache, and rash. Ophthalmic manifestations can involve both the anterior and posterior segment. Panophthalmitis is rare in dengue hemorrhagic fever, and there is no report of culture-positive panophthalmitis in this setting. Here, we report a case of a serology-positive 33-year-old male patient of dengue hemorrhagic fever who developed sudden onset pain, redness, and proptosis in the right eye. The patient subsequently developed panophthalmitis in his right eye, and Bacillus cereus was isolated from eviscerated sample. This case provides unique insights into pathogenesis of panophthalmitis in dengue and highlights the management options

Role of polymerase chain reaction–based viral detection in pterygia

Purpose: Pterygium is a fibrovascular disease that originates in the conjunctiva and commonly spreads to the corneal surface, thereby posing a threat to eyesight. Despite intensive research, the pathophysiology of this disease remains unclear. Recent research suggests that oncogenic viruses, such as human papillomavirus (HPV), cytomegalovirus, and Epstein–Barr virus (EBV), may play a role in pterygia development. Although there are questions concerning the function of oncogenic viruses in pterygium pathogenesis, existing research shows a lack of consensus on the subject, demonstrating the heterogeneity of pterygium pathophysiology. Therefore, we aimed to simultaneously detect the three common viral pathogens that have been reported in pterygium tissue obtained after excision. Methods: Thirty-five tissue specimens of pterygium from patients undergoing pterygium surgery (as cases) were analyzed for evidence of viral infection with multiplex polymerase chain reaction (PCR), and virus-specific real-time quantitative PCR was used for the samples that were detected positive by multiplex PCR. Results: Of the 35 patients, one sample was positive for EBV and two samples were positive for HPV. Further PCR-based DNA sequencing of the HPV PCR-positive product showed identity with HPV-16. Real-time quantitative PCR on samples that showed EBV or HPV positivity did not yield any detectable copy number. Conclusion: Our study results confirmed that PCR positivity could be due to transient flora, but it was not quantitatively significant to conclude as the causative factor of pterygium pathogenesis. However, additional studies with larger sample populations are warranted to fully determine the role of the virus in pterygium

Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis.

We previously identified a deletion on chromosome 16p12.1 that is mostly inherited and associated with multiple neurodevelopmental outcomes, where severely affected probands carried an excess of rare pathogenic variants compared to mildly affected carrier parents. We hypothesized that the 16p12.1 deletion sensitizes the genome for disease, while "second-hits" in the genetic background modulate the phenotypic trajectory. To test this model, we examined how neurodevelopmental defects conferred by knockdown of individual 16p12.1 homologs are modulated by simultaneous knockdown of homologs of "second-hit" genes in Drosophila melanogaster and Xenopus laevis. We observed that knockdown of 16p12.1 homologs affect multiple phenotypic domains, leading to delayed developmental timing, seizure susceptibility, brain alterations, abnormal dendrite and axonal morphology, and cellular proliferation defects. Compared to genes within the 16p11.2 deletion, which has higher de novo occurrence, 16p12.1 homologs were less likely to interact with each other in Drosophila models or a human brain-specific interaction network, suggesting that interactions with "second-hit" genes may confer higher impact towards neurodevelopmental phenotypes. Assessment of 212 pairwise interactions in Drosophila between 16p12.1 homologs and 76 homologs of patient-specific "second-hit" genes (such as ARID1B and CACNA1A), genes within neurodevelopmental pathways (such as PTEN and UBE3A), and transcriptomic targets (such as DSCAM and TRRAP) identified genetic interactions in 63% of the tested pairs. In 11 out of 15 families, patient-specific "second-hits" enhanced or suppressed the phenotypic effects of one or many 16p12.1 homologs in 32/96 pairwise combinations tested. In fact, homologs of SETD5 synergistically interacted with homologs of MOSMO in both Drosophila and X. laevis, leading to modified cellular and brain phenotypes, as well as axon outgrowth defects that were not observed with knockdown of either individual homolog. Our results suggest that several 16p12.1 genes sensitize the genome towards neurodevelopmental defects, and complex interactions with "second-hit" genes determine the ultimate phenotypic manifestation