Infant With Trisomy 18 and Hypoplastic Left Heart Syndrome

Kukora, Stephanie; Firn, Janice; Laventhal, Naomi; Vercler, Christian J.; Moore, Bryanna; Lantos, John D.

doi:10.1542/peds.2018-3779

Cited by 15 publications

(7 citation statements)

References 31 publications

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“…Especially for highly complex CHD like hypoplastic left heart syndrome and other forms of univentricular hearts, different social attitudes regarding termination of pregnancy and compassionate care and different outcomes of operations for staged palliation may have an impact on the frequency of operations for staged reconstruction of functionally univentricular hearts. 12,13 The higher proportion of Glenn operations among the benchmark procedures in JCVSD-Congenital compared to ECHSA-CHSD may reflect the advanced experiences in Japan regarding functionally univentricular palliation. 14 Surprisingly, the proportion of Fontan completion is lower in JCVSD-Congenital compared to ECHSA-CHSD.…”

Section: Discussionmentioning

confidence: 99%

Pediatric Cardiac Surgical Patterns of Practice and Outcomes in Japan and Europe

Hörer

Hirata

Tachimori

et al. 2021

World J Pediatr Congenit Heart Surg

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Objectives: The Japan Cardiovascular Surgery Database–Congenital section (JCVSD-Congenital) and the European Congenital Heart Surgeons Association (ECHSA) Congenital Heart Surgery Database (CHSD) share the same nomenclature. We aimed at comparing congenital cardiac surgical patterns of practice and outcomes in Japan and Europe using the JCVSD-Congenital and ECHSA-CHSD. Methods and Results: We examined Japanese (120 units, 63,365 operations) and European (96 units, 90,098 operations) data in JCVSD-Congenital and ECHSA-CHSD from 2011 to 2017. Patients’ age and weight, periprocedural times, mortality at hospital discharge, and postoperative length of stay were calculated for ten benchmark operations. There was a significantly higher proportion of ventricular septal defect closures and Glenn operations and a significantly lower proportion of coarctation repairs, tetralogy of Fallot repairs, atrioventricular septal defect repairs, arterial switch operations, truncus repairs, Norwood operations, and Fontan operations in JCVSD-Congenital compared to ECHSA-CHSD. Postoperative length of stay was significantly longer following all benchmark operations in JCVSD-Congenital compared to ECHSA-CHSD. Mean STAT mortality score (Society of Thoracic Surgeons European Association for Cardio-Thoracic Surgery mortality score) was significantly higher in JCVSD-Congenital (0.78) compared to ECHSA-CHSD (0.71). Mortality at hospital discharge was significantly lower in JCVSD-Congenital (4.2%) compared to ECHSA-CHSD (6.0%, P < .001). Conclusions: The distribution of the benchmark procedures and age at the time of surgery differ between Japan and Europe. Postoperative length of stay is longer, and the mean complexity is higher in Japan compared to European data. These comparisons of patterns of practice and outcomes demonstrate opportunities for continuing bidirectional transcontinental collaboration and quality improvement.

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Section: Discussionmentioning

confidence: 99%

Pediatric Cardiac Surgical Patterns of Practice and Outcomes in Japan and Europe

Hörer

Hirata

Tachimori

et al. 2021

World J Pediatr Congenit Heart Surg

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“…When a tracheostomy, Nissen fundoplication, and G-tube were requested, the pediatric anesthesia team and surgeons felt these procedures would subject Julia to additional risk, pain, suffering, and potential complications. As recently described by Kukora et al, 7 the decision of whether a patient is a surgical candidate is multifaceted. Surgeons and anesthesiologists are uniquely qualified to assess candidacy for surgery.…”

Section: Anne M Savarese Md Faap (Anesthesiology)mentioning

confidence: 99%

Disagreement About Surgical Intervention in Trisomy 18

et al. 2021

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In this case, we explore physician conflict with performing surgery (tracheostomy) for long-term ventilation in a term infant with trisomy 18 and respiratory failure. Experts in neonatal-perinatal medicine, pediatric bioethics, and pediatric palliative care have provided comments on this case. An additional commentary was written by the parent of another infant with trisomy 18, who is also a medical provider (physical therapist).

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“…[99]- [103] While thirty years ago this disease was considered as a lethal anomaly, the latest literature documents that there is 50% chance of survival beyond one week, 8-25% of infants may reach their first birthday, and up to 10% are reported to survive up to several years. [104], [105] Phenotype of patients results from full, mosaic or partial trisomy 18q. [99], [100] An extra chromosome (94% of cases), effect of invalid segregation of chromosomes in meiosis or postzygotic mitosis, is most often of maternal origin.…”

Section: Other Syndromesmentioning

confidence: 99%

Male hypogonadotropic hypogonadism in various genetic disorders

Niedobylski

Laszczak

Warchoł

et al. 2020

J Educ Health Sport

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Introduction and purpose: Male hypogonadism is diagnosed in patients with total testosterone under 9-12nmol/L (250-350ng/dl) in serum which is associated with numerous symptoms which can severely lower the quality of patients life. Due to the cause and associated levels of gonadotropins it can be divided to hypergonadotropic and hypogonadotropic hypogonadism. Hypogonadotropic hypogonadism occurs far less often, but it’s considered to remain underdiagnosed. The purpose of this study is to review most of the inborn diseases that involve hypogonadotropic hypogonadism as one of their components.Current state of knowledge: Patients with Kallmann syndrome constitute the majority of confirmed hypogonadotropic hypogonadism cases, however due to variable epidemiological data and differing diagnosing processes the exact incidence cannot be estimated – it ranges from 1 in 85 000, to 1 in 5000 males and about 3-4 times less often in women. Other conditions that can occur with hypogonadotropic hypogonadism are Isolated Gonadotropin-Releasing Hormone deficiency, Gonadotropin disorders, Prader-Willi Syndrome, some pleiotropic syndromes like CHARGE syndrome, Patau syndrome, Pfeiffer syndrome, Hartsfield syndrome, Waardenburg syndrome, Bardet-Biedl syndrome, or other syndromes. The evaluation and treatment of some of these conditions does not involve hypogonadism or other gonadal disorders due to short lifespan, which cause the underestimations in hypogonadism morbidity.Conclusions: Regardless of lower incidence of hypogonadotropic hypogonadism compared to hypergonadotropic type, endocrinologists should stay aware of its under-diagnosis and actively search for signs of low gonadotropic hormones and gonadotropin-releasing hormone levels in hypogonadal patients.

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Infant With Trisomy 18 and Hypoplastic Left Heart Syndrome

Cited by 15 publications

References 31 publications

Pediatric Cardiac Surgical Patterns of Practice and Outcomes in Japan and Europe

Pediatric Cardiac Surgical Patterns of Practice and Outcomes in Japan and Europe

Disagreement About Surgical Intervention in Trisomy 18

Male hypogonadotropic hypogonadism in various genetic disorders

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