Browsing by Subject "congenital"

Now showing 1 - 5 of 5
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    CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes
    (Cambridge University Press, 2016-01) Landis, Benjamin J.; Cooper, David S.; Hinton, Robert B.; Department of Pediatrics, IU School of Medicine
    CHD is frequently associated with a genetic syndrome. These syndromes often present specific cardiovascular and non-cardiovascular co-morbidities that confer significant peri-operative risks affecting multiple organ systems. Although surgical outcomes have improved over time, these co-morbidities continue to contribute substantially to poor peri-operative mortality and morbidity outcomes. Peri-operative morbidity may have long-standing ramifications on neurodevelopment and overall health. Recognising the cardiovascular and non-cardiovascular risks associated with specific syndromic diagnoses will facilitate expectant management, early detection of clinical problems, and improved outcomes--for example, the development of syndrome-based protocols for peri-operative evaluation and prophylactic actions may improve outcomes for the more frequently encountered syndromes such as 22q11 deletion syndrome.
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    Complications in the first 5 years following cataract surgery in infants with and without intraocular lens implantation in the Infant Aphakia Treatment Study
    (Elsevier, 2014-11) Plager, David A.; Lynn, Michael J.; Buckley, Edward G.; Wilson, M. Edward; Lambert, Scott R.; Infant Aphakia Treatment Study Group; Department of Ophthalmology, IU School of Medicine
    PURPOSE: To compare rates and severity of complications between infants undergoing cataract surgery with and without intraocular lens (IOL) implantation. DESIGN: Prospective randomized clinical trial. METHODS: A total of 114 infants were enrolled in the Infant Aphakia Treatment Study, a randomized, multi-center (12) clinical trial comparing the treatment of unilateral aphakia in patients under 7 months of age with a primary IOL implant or contact lens. The rate, character, and severity of intraoperative complications, adverse events, and additional intraocular surgeries during the first 5 postoperative years in the 2 groups were examined. RESULTS: There were more patients with intraoperative complications (28% vs 11%, P = .031), adverse events (81% vs 56%, P = .008), and more additional intraocular surgeries (72% vs 16%, P < .0001) in the IOL group than in the contact lens group. However, the number of patients with adverse events in the contact lens group increased (15 to 24) in postoperative years 2-5 compared to the first postoperative year, while it decreased (44 to 14) in years 2-5 compared to the first postoperative year in the IOL group. If only one half of the patients in the contact lens (aphakic) group eventually undergo secondary IOL implantation, the number of additional intraocular surgeries in the 2 groups will be approximately equal. CONCLUSION: The increased rate of complications, adverse events, and additional intraocular surgeries associated with IOL implantation in infants <7 months of age militates toward leaving babies aphakic if it is considered likely that the family will be successful with contact lens correction.
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    Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation
    (The Endocrine Society, 2015-06) Gregory, L. C.; Humayun, K. N.; Turton, J. P. G.; McCabe, M. J.; Rhodes, S. J.; Dattani, M. T.; Department of Cellular & Integrative Physiology, IU School of Medicine
    BACKGROUND: LHX4 encodes a member of the LIM-homeodomain family of transcription factors that is required for normal development of the pituitary gland. To date, only incompletely penetrant heterozygous mutations in LHX4 have been described in patients with variable combined pituitary hormone deficiencies. OBJECTIVE/HYPOTHESIS: To report a unique family with a novel recessive variant in LHX4 associated with a lethal form of congenital hypopituitarism that was identified through screening a total of 97 patients. METHOD: We screened 97 unrelated patients with combined pituitary hormone deficiency, including 65% with an ectopic posterior pituitary, for variants in the LHX4 gene using Sanger sequencing. Control databases (1000 Genomes, dbSNP, Exome Variant Server, ExAC Browser) were consulted upon identification of variants. RESULTS: We identified the first novel homozygous missense variant (c.377C>T, p.T126M) in two deceased male patients of Pakistani origin with severe panhypopituitarism associated with anterior pituitary aplasia and posterior pituitary ectopia. Both were born small for gestational age with a small phallus, undescended testes, and mid-facial hypoplasia. The parents' first-born child was a female with mid-facial hypoplasia (DNA was unavailable). Despite rapid commencement of hydrocortisone and T4 in the brothers, all three children died within the first week of life. The LHX4(p.T126M) variant is located within the LIM2 domain, in a highly conserved location. The absence of homozygosity for the variant in over 65 000 controls suggests that it is likely to be responsible for the phenotype. CONCLUSION: We report, for the first time to our knowledge, a novel homozygous mutation in LHX4 associated with a lethal phenotype, implying that recessive mutations in LHX4 may be incompatible with life.
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    Validation and Preliminary Results of the Parental Assessment of Children's External Genitalia Scale for Females (PACE-F) for Girls With Congenital Adrenal Hyperplasia
    (Elsevier, 2019) Szymanski, Konrad M.; Whittam, Benjamin; Monahan, Patrick O.; Kaefer, Martin; Frady, Heather; Cain, Mark P.; Rink, Richard C.; Urology, School of Medicine
    Objective To validate a parental assessment of children's external genitalia scale for females (PACE-F) for girls with congenital adrenal hyperplasia (CAH) by adapting the validated adult female genital self-image scale. Methods PACE-F was administered to parents of girls (Tanner 1, 2 months-12 years) with and without CAH. Final questions were determined by clinical relevance and psychometric properties (scores: 0-100). A reference range was established using 95% confidence interval among controls. Age-matched controls were compared to girls with CAH (1) <4 years old before and after female genital reconstruction surgery (FGRS), and (2) 4-12-year olds after FGRS. Nonparametric statistics were used. Results Participants included 56 parents of 41 girls with CAH (median 3.9 years old, 97.6% FGRS) and 139 parents of 130 girls without CAH. Face and content validity was established by families, experts, and factor analysis. Internal consistency was high (Cronbach's alpha: 0.83). Population reference score range was 66.7-100. Ten consecutive girls had pre- and post-FGRS PACE-F scores. All scores improved at 4 months after surgery and all preoperative scores were below reference range and lower than controls (P = .0001). All postoperative scores were within reference range, no different from controls (P = .18). Scores for girls with CAH after FGRS aged 4-12 years were no different from controls (100.0 vs 88.9, P = .77) and 90.0% were in reference range, as expected (P = .99). Conclusion We present a validated instrument for parental assessment of genital appearance in girls with CAH. We demonstrate improved parent-reported appearance after FGRS, with scores similar to age-matched controls.
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    Vasoactive-ventilation-renal score reliably predicts hospital length of stay after surgery for congenital heart disease
    (Elsevier, 2016-11) Scherer, Bradley; Moser, Elizabeth A. S.; Brown, John W.; Rodefeld, Mark D.; Turrentine, Mark W.; Mastropietro, Christopher W.; Department of Pediatrics, IU School of Medicine
    Objectives We aimed to further validate the vasoactive-ventilation-renal score as a predictor of outcome in patients recovering from surgery for congenital heart disease. We also sought to determine the optimal time point within the early recovery period at which the vasoactive-ventilation-renal score should be measured. Methods We prospectively reviewed consecutive patients recovering from cardiac surgery within our intensive care unit between January 2015 and June 2015. The vasoactive-ventilation-renal score was calculated at 6, 12, 24, and 48 hours postoperatively as follows: vasoactive-ventilation-renal score = ventilation index + vasoactive-inotrope score + Δ creatinine [change in serum creatinine from baseline*10]. Primary outcome of interest was prolonged hospital length of stay, defined as length of stay in the upper 25%. Receiver operating characteristic curves were generated, and areas under the curve with 95% confidence intervals were calculated for all time points. Multivariable logistic regression modeling also was performed. Results We reviewed 164 patients with a median age of 9.25 months (interquartile range, 2.6-58 months). Median length of stay was 8 days (interquartile range, 5-17.5 days). The area under the curve value for the vasoactive-ventilation-renal score as a predictor of prolonged length of stay (>17.5 days) was greatest at 12 hours postoperatively (area under the curve = 0.93; 95% confidence interval, 0.89-0.97). On multivariable regression analysis, after adjustment for potential confounders, the 12-hour vasoactive-ventilation-renal score remained a strong predictor of prolonged hospital length of stay (odds ratio, 1.15; 95% confidence interval, 1.10-1.20). Conclusions In a heterogeneous population of patients undergoing surgery for congenital heart disease, the novel vasoactive-ventilation-renal score calculated in the early postoperative recovery period can be a strong predictor of prolonged hospital length of stay.