Renal anomalies and microtia: Determining the clinical utility of screening affected children

Kini, Sameer; Barton, Gregg H.; Liu, Yi‐Chun Carol

doi:10.1016/j.ijporl.2020.109957

Cited by 10 publications

(7 citation statements)

References 10 publications

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“…Kini et al in their study of 98 infants with microtia found renal structural abnormality in 24%; these were seen in 43% of syndromic children and 21% of other children. [5] This highlights the importance of ruling out other structural deformities while evaluating a case with microtia. The infant in this case had a normal ultrasound scan of the abdomen and no associated renal or skeletal abnormality was found while congenital heart disease was confirmed on 2D ECHO of the infant.…”

Section: Case Discussionmentioning

confidence: 99%

Congenital Bilateral Microtia-Anotia: A Clinical Challenge

2021

IJCR

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Microtia- Anotia (M-A) is a rare congenital malformation of the external ear structure commonly associated with atresia or stenosis of the ear canal. Its prevalence is more common in Asians and Hispanics, is generally unilateral and is seen more commonly in males. It can either be an isolated defect or be a part of specific pattern of anomalies involving other organs. It has been documented as a component of either a teratogenic embryopathy (isotretinoin, thalidomide or alcohol) or single gene disorders like Treacher Collins and as a part of a pattern of multiple defects like Goldenhar, Nager and CHARGE syndrome. We report a case of a newborn with bilateral microtia-anotia and facial palsy, who on further evaluation was found to have congenital heart disease also. The triad of anotia, facial paralysis and cardiac anomaly is rare and has been first described by Pearl in 1984.Thus, the obviously visible ear malformation at birth should be evaluated in depth to rule out other underlying malformations.

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Section: Case Discussionmentioning

confidence: 99%

Congenital Bilateral Microtia-Anotia: A Clinical Challenge

2021

IJCR

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“…Both genes were detected in Families I and VI. Kini et al, 2020;Lu et al, 2020). However, the crucial candidate genes in sporadic cases are yet to be identified.…”

Section: Discussionmentioning

confidence: 99%

Whole-Exome Sequencing of Discordant Monozygotic Twin Families for Identification of Candidate Genes for Microtia-Atresia

et al. 2020

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Objective: We used data from twins and their families to probe the genetic factors contributing to microtia-atresia, in particular, early post-twinning variations that potentially account for the discordant phenotypes of monozygotic twin pairs. Methods: Six families of monozygotic twins discordant for congenital microtia-atresia were recruited for study. The six patients shared a consistent clinical phenotype of unilateral microtia-atresia. Whole-exome sequencing (WES) was performed for all six twin pairs and their parents. Family segregation and multiple bioinformatics methods were applied to identify suspicious mutations in all families. Recurring mutations commonly detected in at least two families were highlighted. All variants were validated via Sanger sequencing. Gene Ontology (GO) analysis was performed to identify candidate gene sets and related pathways. Copy number variation (CNV), linkage analysis, association analysis and machine learning methods were additionally applied to isolate candidate mutations, and comparative genomics and structural modeling tools used to evaluate their potential roles in onset of microtia-atresia. Results: Our analyses revealed 61 genes with suspected mutations associated with microtia-atresia. Five (HOXA4, MUC6, CHST15, TBX10, and AMER1) contained 7 de novo mutations that appeared in at least two families, which have been previously reported as pathogenic for other diseases. Among these, HOXA4 (c.920A>C, p.H307P) was determined as the most likely pathogenic variant for microtia-atresia. GO analysis revealed four gene sets involving 11 pathways potentially related to underlying pathogenesis of the disease. CNVs in three genes (UGT2B17, OVOS, and KATNAL2) were detected in at least two families. Linkage analysis disclosed 13 extra markers for the disease, of which two (FGFR1 and EYA1) were validated via machine learning analysis as plausible candidate genes for the disease.

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“…Patients with microtia not only have hearing impairment 3 , 4 but also have a significant risk of structural renal abnormalities. 5 In addition, microtia brings heavy psychological burdens, which may lead to feelings of inferiority or bullying from others. Thus, both the pursuit of improved hearing function and the desire for a more normal appearance boost the demand for plastic surgery.…”

Section: Introductionmentioning

confidence: 99%

Distribution of Pathogenic Bacteria and Antimicrobial Resistance after Plastic Surgery for Microtia

Hu,

Chen,

Jiang

et al. 2023

Plastic and Reconstructive Surgery - Global Open

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Background: Microtia, or congenital malformation (smallness or absence) of the outer ear, can be treated with ear prosthetics and/or surgery. Methods: Between January 2011 and December 2021, following plastic surgery, microbial strains from patients with microtia were collected, identified, and counted. WHONET 5.6 was used to analyze in vitro drug resistance of the microbial strains, according to procedures outlined by the Clinical and Laboratory Standards Institute (document M100, 2021). Data regarding surgical techniques, the duration of infection, and other clinical details were also collected. Results: A total of 261 patients were included in the study. Among these, 235 Gram-positive bacteria were detected, with Staphylococcus aureus (140/235) and coagulase-negative staphylococci (84/235) accounting for the majority. There were also 26 Gram-negative bacteria, of which Enterobacter (11/26) and Pseudomonas aeruginosa (7/26) were the most common. According to the results of testing for antimicrobial resistance, S. aureus was highly sensitive to cotrimoxazole, levofloxacin, vancomycin, chloramphenicol, and linezolid, whereas coagulase-negative staphylococci were highly sensitive to vancomycin and linezolid. Both were highly resistant to penicillin and erythromycin. In this study, the pathogenic bacteria involved in postoperative infections varied overall, but the most prevalent was S. aureus. The infections appeared mainly in the late postoperative period. A total of 24,548 procedures were performed in the same period, and the infection rate was 1.06%. Conclusions: Gram-positive bacteria are the major cause of infection following plastic surgery for microtia. The bacterial species, degrees of antimicrobial resistance, and length of infection varied among the various surgical procedures.

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Renal anomalies and microtia: Determining the clinical utility of screening affected children

Cited by 10 publications

References 10 publications

Congenital Bilateral Microtia-Anotia: A Clinical Challenge

Congenital Bilateral Microtia-Anotia: A Clinical Challenge

Whole-Exome Sequencing of Discordant Monozygotic Twin Families for Identification of Candidate Genes for Microtia-Atresia

Distribution of Pathogenic Bacteria and Antimicrobial Resistance after Plastic Surgery for Microtia

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