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1.
J Cardiothorac Surg ; 19(1): 446, 2024 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-39004766

RESUMEN

BACKGROUND: The war that began on October 7th, 2023, has impacted all major tertiary medical centers in Israel. In the largest cardiac surgery department in Israel there has been a surprising increase in the number of open-heart procedures, despite having approximately 50% of surgeons recruited to military service. The purpose of this study is to characterize this increase in the number of operations performed during wartime and assess whether the national crisis has affected patient outcomes. METHODS: The study was based on a prospectively collected registry of 275 patients who underwent cardiac surgery or extracorporeal membrane oxygenation (ECMO) during the first two months of war, October 7th 2023 - December 7th 2023, as well as patients that underwent cardiac surgery during the same period of time in 2022 (October 7th, 2022 - December 7th, 2022). RESULTS: 120 patients (43.6%) were operated on in 2022, and 155 (56.4%) during wartime in 2023. This signifies a 33.0% increase in open-heart procedures (109 in 2022 vs. 145 in 2023, p-value 0.26). There were no significant differences in the baseline characteristics of patients when comparing the 2022 patients to those in 2023. No significant differences between the two groups were found with regards to intraoperative characteristics or the type of surgery. However, compared to 2022, there was a 233% increase in the number of transplantations in the 2023 cohort (p-value 0.24). Patient outcomes during wartime were similar to those of 2022, including postoperative complications, length of stay, and mortality. CONCLUSIONS: Patients who underwent cardiac surgery during wartime presented with comparable outcomes when compared to those of last year despite the increase in cardiac surgery workload. There was an increase in the number of transplants this year, attributed to the unfortunate increase in organ donors.


Asunto(s)
Procedimientos Quirúrgicos Cardíacos , Oxigenación por Membrana Extracorpórea , Humanos , Israel , Procedimientos Quirúrgicos Cardíacos/estadística & datos numéricos , Masculino , Femenino , Persona de Mediana Edad , Oxigenación por Membrana Extracorpórea/estadística & datos numéricos , Sistema de Registros , Anciano , Estudios Prospectivos , Guerra , Adulto
2.
Thyroid ; 33(2): 261-266, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36633921

RESUMEN

Background: Congenital hypothyroidism due to defects in iodotyrosine deiodinase has variable phenotypes and can present as hypothyroid or with normal thyroid testing. Methods: Whole exome sequencing was performed in individuals from two families originating from different regions of Sudan. Mass spectrometry of urine and serum iodotyrosines was performed on subjects from both families. Results: A novel iodotyrosine deiodinase (IYD) mutation (c.835C>T; R279C) was identified in individuals from two Sudanese families inherited as autosomal recessive. The mutation was identified by multiple in silica analyses to likely be detrimental. Serum and urine monoiodotyrosine (MIT) and diiodotyrosine (DIT) were markedly elevated in the homozygous subjects. Conclusion: Measurement of serum and urine DIT and MIT was more sensitive than that of urine iodine or serum thyroid function tests to determine the effect of the IYD mutation.


Asunto(s)
Hipotiroidismo Congénito , Diyodotirosina , Mutación , Humanos , Hipotiroidismo Congénito/genética , Diyodotirosina/genética , Yoduro Peroxidasa/genética , Monoyodotirosina/genética
3.
Thyroid ; 31(10): 1589-1591, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34128397

RESUMEN

A family with congenital hypothyroidism was identified with two novel deleterious compound heterozygous thyroid peroxidase (TPO) mutations (c.962C>A, and c.1577C>T). Serum thyroid tests showed higher-than-expected serum-free thyroxine (T4) relative to TT3, while reverse triiodothyronine (rT3) was also elevated. Two siblings manifested a more severe phenotype of developmental delay compared with another sibling and were found to harbor an additional novel heterozygous deleterious iodothyronine deiodinase 1 (DIO1) mutation (c.395G>A). In the context of L-T4 replacement, the decreased D1 activity results in abnormal thyroid hormone metabolism with decreased triiodothyronine (T3) generation from L-T4 and may result in decreased T3 bioavailability during critical stages of development.


Asunto(s)
Autoantígenos/genética , Hipotiroidismo Congénito/genética , Proteínas de Unión al ADN/genética , Heterocigoto , Yoduro Peroxidasa/genética , Proteínas de Unión a Hierro/genética , Mutación , Fenotipo , Adulto , Biomarcadores , Hipotiroidismo Congénito/diagnóstico , Femenino , Humanos , Masculino , Pruebas de Función de la Tiroides , Tiroxina/sangre , Triyodotironina/sangre
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