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A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria.

ABSTRACT: Chromosome 18 pericentric inversion carriers could have offspring with recombinant chromosomes, leading to patients with clinical variable manifestations. Patients with 18p-/18q+ rearrangements share some clinical characteristics, while other characteristics differ. Factors for such divergence include the length of the inverted segment, among others. Here, we describe a Peruvian child with dysmorphic features, intellectual disability persistent microscopic hematuria, aortic pseudocoarctation, and descending aorta arteritis, among others. Karyotype analysis of family members determined the mother as the carrier of a pericentric inversion: 18[inv(18)(p11.2q21.3)]. This child carries a recombinant chromosome 18, with chromosomal microarray analysis detecting two genomic imbalances in patient's chromosome 18: one duplicated region and one deleted segment in the large and the short arms, respectively. Persistent microscopic hematuria has not been reported among 18p-/18q+ phenotypes. Our patient elucidates that other factors play significant and yet unknown roles for not fulfilling the proposed genotype-phenotype correlation associated with hemizygosity in this type of recombinant chromosome 18 or presenting these features as the patient ages.

SUBMITTER: Poterico JA

PROVIDER: S-EPMC5683951 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature

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A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria.

Poterico Julio A JA Vásquez Flor F Chávez-Pastor Miguel M Trubnykova Milana M Chavesta Félix F Chirinos Jenny J Salcedo Nancy N Mena Rosmery R Cubas Sulema S González Rocío R Alvariño Rossana R Abarca-Barriga Hugo H

Journal of pediatric genetics 20170706 4

Chromosome 18 pericentric inversion carriers could have offspring with recombinant chromosomes, leading to patients with clinical variable manifestations. Patients with 18p-/18q+ rearrangements share some clinical characteristics, while other characteristics differ. Factors for such divergence include the length of the inverted segment, among others. Here, we describe a Peruvian child with dysmorphic features, intellectual disability persistent microscopic hematuria, aortic pseudocoarctation, an ...[more]

PMID: 29142771

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Project description:ImportanceAsymptomatic microscopic hematuria (AMH) is highly prevalent and may signal occult genitourinary (GU) malignant abnormality. Common diagnostic approaches differ in their costs and effectiveness in detecting cancer. Given the low prevalence of GU malignant abnormality among patients with AMH, it is important to quantify the cost implications of detecting cancer for each approach.ObjectiveTo estimate the effectiveness, costs, and incremental cost per cancer detected (ICCD) for 4 common diagnostic approaches evaluating AMH.Design, setting, and participantsA decision-analytic model-based cost-effectiveness analysis using inputs from the medical literature. PubMed searches were performed to identify relevant literature for all key model inputs, each of which was derived from the clinical study with the most robust data and greatest applicability. Analysis included adult patients with AMH on routine urinalysis with subgroups of high-risk patients (males, smokers, age ≥50 years) seen in the primary care or urologic referral setting.InterventionsFour diagnostic approaches were evaluated relative to the reference case of no evaluation: (1) computed tomography (CT) alone; (2) cystoscopy alone; (3) CT and cystoscopy combined; and (4) renal ultrasound and cystoscopy combined.Main outcomes and measuresAt termination of the diagnostic period, cancers detected, costs (payer perspective), and ICCD per 10 000 patients evaluated for AMH.ResultsOf the 4 diagnostic approaches analyzed, CT alone was dominated by all other strategies, detecting 221 cancers at a cost of $9 300 000. Ultrasound and cystoscopy detected 245 cancers and was most cost-effective with an ICCD of $53 810. Replacing ultrasound with CT detected just 1 additional cancer at an ICCD of $6 480 484. Ultrasound and cystoscopy remained the most cost-effective approach in subgroup analysis. The model was not sensitive to any inputs within the proposed ranges. Using probabilistic sensitivity analysis, ultrasound and cystoscopy was the dominant strategy in 100% of simulations.Conclusions and relevanceThe combination of renal ultrasound and cystoscopy is the most cost-effective among 4 diagnostic approaches for the initial evaluation of AMH. The use of ultrasound in lieu of CT as the first-line diagnostic strategy will optimize cancer detection and reduce costs associated with evaluation of AMH. Given our findings, we need to critically evaluate the appropriateness of our current clinical practices, and potentially alter our guidelines to reflect the most effective screening strategies for patients with AMH.

Project description:PurposeComputerized tomography urogram is recommended when investigating patients with hematuria. We determined the incidence of urinary tract cancer and compared the diagnostic accuracy of computerized tomography urogram to that of renal and bladder ultrasound for identifying urinary tract cancer.Materials and methodsThe DETECT (Detecting Bladder Cancer Using the UroMark Test) I study is a prospective observational study recruiting patients 18 years old or older following presentation with macroscopic or microscopic hematuria at a total of 40 hospitals. All patients underwent cystoscopy and upper tract imaging comprising computerized tomography urogram and/or renal and bladder ultrasound.ResultsA total of 3,556 patients with a median age of 68 years were recruited in this study, of whom 2,166 underwent renal and bladder ultrasound, and 1,692 underwent computerized tomography urogram in addition to cystoscopy. The incidence of bladder, renal and upper tract urothelial cancer was 11.0%, 1.4% and 0.8%, respectively, in macroscopic hematuria cases. Patients with microscopic hematuria had a 2.7%, 0.4% and 0% incidence of bladder, renal and upper tract urothelial cancer, respectively. The sensitivity and negative predictive value of renal and bladder ultrasound to detect renal cancer were 85.7% and 99.9% but they were 14.3% and 99.7%, respectively, to detect upper tract urothelial cancer. Renal and bladder ultrasound was poor at identifying renal calculi. Renal and bladder ultrasound sensitivity was lower than that of computerized tomography urogram to detect bladder cancer (each less than 85%). Cystoscopy had 98.3% specificity and 83.9% positive predictive value.ConclusionsComputerized tomography urogram can be safely replaced by renal and bladder ultrasound in patients who have microscopic hematuria. The incidence of upper tract urothelial cancer is 0.8% in patients with macroscopic hematuria and computerized tomography urogram is recommended. Patients with suspected renal calculi require noncontrast renal tract computerized tomography. Imaging cannot replace cystoscopy to diagnose bladder cancer.

Dataset Information

A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria.

Publications

A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria.

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