Molecular and entomological surveillance of malaria vectors in urban and rural communities of Benguela Province, Angola.

BACKGROUND: Malaria is a major public health problem in Angola, with Anopheles gambiae sensu lato (s.l.) and An. funestus s.l. being the primary vectors. This study aimed to clarify the information gaps concerning local Anopheles mosquito populations. Our objectives were to assess their abundance, geographical dispersion, and blood-feeding patterns. We also investigated their insecticide resistance. Molecular methods were used to identify sibling species, determine the origin of blood meals, measure Plasmodium falciparum infection rates, and detect the presence of knockdown resistance (kdr) mutations. METHODS: Adult mosquitoes were collected indoors using CDC light traps from nine randomly selected households at two sentinel sites with distinct ecological characteristics. The samples were collected from 1 February to 30 June 2022. Anopheles mosquitoes were morphologically identified and subjected to molecular identification. Unfed Anopheles females were tested for the presence of P. falciparum DNA in head and thorax, and engorged females were screened for the source of the blood meals. Additionally, members of An. gambiae complex were genotyped for the presence of the L1014F and L1014S kdr mutations. RESULTS: In total, 2226 adult mosquitoes were collected, including 733 Anopheles females. Molecular identification revealed the presence of Anopheles coluzzii, An. gambiae senso stricto (s.s.), An. arabiensis, and An. funestus s.s. Notably, there was the first record of An. coluzzii/An. gambiae s.s. hybrid and An. vaneedeni in Benguela Province. Plasmodium falciparum infection rates for An. coluzzii at the urban sentinel site and An. funestus s.s. at the rural site were 23.1% and 5.7%, respectively. The L1014F kdr mutation was discovered in both resistant and susceptible An. coluzzii mosquitoes, while the L1014S mutation was detected in An. gambiae s.s. for the first time in Benguela Province. No kdr mutations were found in An. arabiensis. CONCLUSIONS: This study provides valuable insights into the molecular characteristics of malaria vectors from the province of Benguela, emphasising the need for continuous surveillance of local Anopheles populations regarding the establishment of both kdr mutations for tailoring vector control interventions.

Delayed splenic pseudoaneurysm identification with surveillance imaging.

BACKGROUND: Recent studies have shown that nonoperative management of patients with splenic injury has up to a 90% success rate. However, delayed hemorrhage secondary to splenic artery pseudoaneurysm occurs in 5% to 10% of patients with up to 27% of patients developing a pseudoaneurysm on delayed imaging. The goal of our study was to evaluate the safety and utility of delayed computed tomography (CT) imaging for blunt splenic injury patients. METHODS: A retrospective evaluation of all traumatic splenic injuries from 2018 to 2020 at a single level 1 trauma center was undertaken. Patients were subdivided into four groups based on the extent of splenic injury: grades I and II, grade III, grade IV, and grade V. Patient injury characteristics along with hospital length of stay, imaging, procedures, and presence/absence of pseudoaneurysm were documented. RESULTS: A total of 588 trauma patients were initially included for evaluation, with 539 included for final analysis. Two hundred ninety-seven patients sustained grades I and II; 123 patients, grade III; 61 patients, grade IV; and 58 patients, grade V splenic injuries. One hundred twenty-nine patients (24%) underwent either emergent or delayed (>6 hours) splenectomy with an additional six patients having a splenorrhaphy on initial operation. Of the patients who were treated nonoperatively, 98% of grade III, 91% of grade IV, and 100% of grade V splenic injury patients underwent follow-up CT imaging. The mean ± SD time from admission to follow-up abdominal CT scan was 5 ± 4.4 days. Twenty-two pseudoaneurysms were identified including grade III (10 of 84), grade IV (7 of 22), and grade V (2 of 5) patients; of these patients, 33% of grade III and 30% of grade IV required subsequent splenectomy. CONCLUSION: Routine follow-up CT imaging after high-grade splenic injury identifies splenic artery pseudoaneurysm in a significant proportion of patients. Standardized surveillance imaging for high-grade splenic trauma promotes prospective identification of pseudoaneurysms, allowing for interventions to minimize delayed splenic injury complications. LEVEL OF EVIDENCE: Therapeutic/Care Management; level IV.

Intrauterine growth restriction associated with paternal isodisomy of chromosome 5: a clinical report and literature survey.

Background: Uniparental disomy (UPD) is a condition where both the chromosomes are inherited from the same parent. The consequences of UPD can be ranging from normal to congenital anomaly depending on the parental origin and chromosome involved.Case characteristics: Here, we describe a case of 2-year-old male with central hypotonia, torticollis, and delayed motor skills born to a nonconsanguineous healthy parent. The proband was prenatally detected with paternal isodisomy 5 and birth was induced at 38 weeks of gestation due to intrauterine growth restriction. There was also confined placental mosaicism along with the isodisomy.Results: No major phenotypic correlation observed. This is the first case of paternal isodisomy 5 with phenotypically normal child.Conclusions: The present case supports the reports that genes on chromosome 5 are nonimprinted. The implications of abnormal genetic findings on genetic counseling are discussed.

Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide.

AIMS: In September, 2015, Mayo Clinic convened a panel of national thought leaders on prenatal screening, medical genetics, and obstetrics and gynecology practice. RESULTS: During the 2-day symposium, participants discussed the implications of the shift toward broader prenatal screening using cell-free placental DNA in maternal serum (cfDNA screening). Key topics included challenges around the pace of change in the prenatal screening market, uncertainty around reimbursement, meeting the need for patient counseling, and potential challenges in interpreting and returning cfDNA screening results. INNOVATION: Here, we describe the challenges discussed and offer clinical recommendations for practices who are working to meet them. CONCLUSION: As the spread of prenatal genetic screening continues, providers will increasingly need to update their practice to accommodate new screening modalities.