ABSTRACT In the late 19th century, José Dantas de Souza Leite, a physician born in Sergipe, published the first detailed clinical description of acromegaly under the guidance of the French neurologist Pierre Marie. In 2014, the Brazilian Society of Endocrinology and Metabolism created the “José Dantas de Souza Leite Award”, which is granted every two years to a Brazilian researcher who has contributed to the development of endocrinology. In 2022, the award was given to another physician from Sergipe, Manuel Hermínio de Aguiar Oliveira, from the Federal University of Sergipe for the description of “Itabaianinha syndrome” in a cohort of individuals with isolated GH deficiency due to a homozygous inactivating mutation in the GH-releasing hormone receptor gene. This research, which was carried out over almost 30 years, was performed in partnership with Roberto Salvatori from Johns Hopkins University and in collaboration with other researchers around the world. This review article tells the story of Souza Leite, some milestones in the history of GH, and summarizes the description of Itabaianinha syndrome.

ABSTRACT Objectives: Currently, not much is known about the interactions between voice and growth hormone (GH). We have described large kindred with isolated GH deficiency (IGHD) due to a GHRH receptor mutation, resulting in severe short stature and high-pitched voice. These IGHD individuals have little interest in GH treatment, as they consider themselves “short long-lived people”, rather than patients. Interestingly, they report normal general quality of life, but they rate their Voice-Related Quality of Life (V-RQOL) as low. Here, we assessed the social and auditory-perceptual impacts of artistic-intervention voice therapy with semioccluded vocal tract exercises (SOVTE) and choral singing, on their voices. Material and methods: Seventeen GH-naïve adult IGHD individuals were enrolled in a single-arm interventional pre-post study with 13 weekly sessions of choir singing over 90 days. Outcome measures were V-RQOL scores, self-assessment of voice, and auditory-perceptual analysis (GRBAS scale, G: grade of the severity of dysphonia; R: roughness; B: breathiness; A: asthenia; and S: strain). Results: Marked improvements in total (p = 0.0001), physical (p = 0.0002), and socioemotional (p = 0.0001) V-RQOL scores and in self-assessment of voice (p = 0.004) were found. The general grades of vocal deviation (p = 0.0001), roughness (p = 0.0001), breathiness (p = 0.0001) and strain (p = 0.0001) exhibited accentuated reductions. Conclusions: Voice therapy with semioccluded vocal tract exercises and choral training improved social impact and perceptual voice assessments in IGHD subjects and markedly improved their voice-related quality of life. This is particularly important in a setting where GH replacement therapy is not widely accepted.

Background The Ross procedure was introduced in 1967 as a surgical treatment for aortic valve stenosis. Since then, the procedure has been used worldwide and has well-known advantages and disadvantages. However, the complexity of the procedure has limited its use and concern exists about the durability of valve substitutes. Objective To analyze the long-term outcomes of the Ross procedure in the treatment of aortic valve disease performed at the Hospital Universitario Fundación Favaloro. Methods Between July 1995 and May 2011, 253 consecutive patients underwent the Ross procedure. Three patients were excluded: two patients reoperated on due to an indication that was not related with the Ross procedure and one patient with iatrogenic injury of the autograft. All patients underwent clinical and echocardiographic follow-up. Survival rates, absence of autograft or homograft reoperation and of valve-related events (death, reoperation, thromboembolism, bleeding and endocarditis) were analyzed using Kaplan-Meier curves, Wilcoxon test and log rank test. Results Mean age was 42±14 years; 72% were men. Surgery was indicated due to aortic stenosis in 50% of cases, aortic regurgitation in 36% and aortic valve disease in 14%. Bicuspid aortic valve was the most common etiology (77%). Isolated procedures were performed in 85% of cases. In-hospital mortality was 3.2%. The overall survival rates at 5 years and 12 years were 95% (95% CI 90-97%) and 92% (95% CI 83-96%), respectively. Autograft dysfunction occurred in 13% of patients (5%). Freedom from autograft reoperation was 100% at 5 years and 95% at 12 years (95% CI 87-98%). Homograft dysfunction occurred in 24 patients (10%). Freedom from homograft reoperation was 99% at 5 years and 12 years (95% CI 95-99.9%). There was no correlation between preoperative aortic regurgitation and reoperation. The absence of valve-related events was 89% (95% CI 82-94%) at 10 years and 85% at 12 years (95% CI 75-91%). Conclusion In our experience, the Ross procedure was associated with a low long-term event rate, representing a valid surgical approach for the treatment of aortic valve disease.

Introducción La cirugía de Ross, empleada por cirujanos de diferentes partes del mundo desde su introducción en 1967 como alternativa quirúrgica en el tratamiento de la enfermedad valvular aórtica, tiene ventajas y beneficios que son bien conocidos. No obstante ello, trae aparejadas algunas preocupaciones que han limitado su aplicación, como su complejidad técnica y la incertidumbre, que aún existe, respecto de la durabilidad de sus sustitutos valvulares. Objetivo Analizar los resultados a largo plazo de la cirugía de Ross en el tratamiento de la enfermedad valvular aórtica en el Hospital Universitario Fundación Favaloro. Material y métodos Desde julio de 1995 hasta mayo de 2011, 253 pacientes consecutivos fueron intervenidos con cirugía de Ross. Se excluyeron 3 pacientes: 2 pacientes reoperados por una indicación no relacionada con la cirugía de Ross y 1 paciente por haber sufrido una lesión iatrogénica del autoinjerto. Se realizó seguimiento clínico y ecocardiográfico. La supervivencia, la ausencia de reoperación del autoinjerto y del homoinjerto y la ausencia de eventos valvulares relacionados (muerte, reoperación, tromboembolia, sangrado, endocarditis) se analizaron mediante curvas de Kaplan-Meier, la prueba de Wilcoxon y el log rank test. Resultados La edad media fue de 42 ± 14 años; el 72% de la población en estudio era de sexo masculino. La indicación quirúrgica comprendió: estenosis aórtica en el 50%, insuficiencia aórtica en el 36% y enfermedad aórtica en el 14%. La etiología más prevaleciente fue la válvula aórtica bicúspide (77%). El 85% de los procedimientos fueron aislados. La mortalidad hospitalaria fue del 3,2%. La supervivencia global a los 5 años fue del 95% (IC 95% 90-97%) y a los 12 años, del 92% (IC 95% 83-96%). Se diagnosticó disfunción del autoinjerto en 13 pacientes (5%). La ausencia de reoperación del autoinjerto a los 5 años fue del 100% y a los 12 años, del 95% (IC 95% 87-98%). Se diagnosticó disfunción del homoinjerto en 24 pacientes (10%). La ausencia de reoperación del homoinjerto a los 5 y a los 12 años fue del 99% (IC 95% 95-99,9%). La insuficiencia aórtica preoperatoria no se asoció con reoperación. La ausencia de eventos valvulares relacionados a los 10 años fue del 89% (IC 5%, 82-94%) y a los 12 años, del 85% (IC 95% 75-91%). Conclusión En nuestra experiencia, la cirugía de Ross se asoció con una tasa baja de eventos en el seguimiento a largo plazo, por lo que representa una opción quirúrgica válida para el tratamiento de la enfermedad valvular aórtica.

Background The Ross procedure has been used for decades for the treatment of aortic valve disease. Despite the promising outcomes of this technique, its limited durability is one of the major drawbacks against its massive indication. Objective To analyze the outcomes of the Ross procedure in our oenter. Material and Methods We conducted a retrospective study in a cohort of patients. From July 1995 to May 2008, 198 patients underwent Ross procedure with aortic root replacement technique. Kaplan-Meier method was used to analyze the events associated with the valve, and the variables were analyzed using the log-rank test and Cox model. Results Mean age was 39± 13 years and 77% were raen. The procedure was indicated due to aortic stenosis (58%) and aortic regurgitation (42%). In-hospital mortality was 2.5% (5 patients). Complete follow-up at 10 years was achieved in 93% of the first 165 patients. Survival at 10 years was 94.8% (95% CI, 89-98) After 10 years, 95% (95% CI, 84-98) of patients did not present endocarditis and 91% (95% CI, 86-96) had no valve-related events. Five patients required reoperation, 4 due to autograft dysfunction and disease of other valves. Conclusions Ross procedure has a low event rate after 13 years and should be considered for the treatment of aortic valve disease in selected patients.

Introducción El procedimiento de Ross para el tratamiento de la valvulopatía aórtica se ha utilizado durante décadas. A pesar de sus resultados alentadores, ciertos interrogantes han limitado su uso masivo; su durabilidad es uno de los principales motivos de preocupación. Objetivo Analizar los resultados de la cirugía de Ross en nuestro centro. Material y métodos El presente es un estudio de cohorte retrospectivo. De julio de 1995 a mayo de 2008, 198 pacientes fueron sometidos a cirugía de Ross; en todos ellos se empleó la técnica de reemplazo de la raíz aórtica. Los eventos asociados con la válvula se analizaron con el método de Kaplan-Meier. Para el análisis de las variables se emplearon el log-rank test y el modelo de Cox. Resultados La edad media fue de 39 ± 13 años; el 77% eran hombres. La cirugía fue indicada por estenosis aórtica (58%) e insuficiencia aórtica (42%). La mortalidad hospitalaria fue del 2,5% (5 pacientes). El seguimiento a 10 años fue completo en el 93% para los primeros 165 pacientes. La sobrevida a los 10 años fue del 94,8% (IC 95% 89-98). La libertad de endocarditis a los 10 años fue del 95% (IC 95% 84-98) y la libertad de eventos relacionados con la válvula a los 10 años fue del 91% (IC 95% 86-96). Cinco pacientes requirieron reoperación, 4 de ellos por disfunción del autoinjerto y enfermedad de otras válvulas. Conclusiones La cirugía de Ross es una técnica quirúrgica con una tasa baja de eventos a los 13 años y debe ser considerada para el tratamiento de la enfermedad valvular aórtica en pacientes seleccionados.

Objective To assess the frequency, clinical presentation, diagnostic methods, treatment, outcome and long-term prognosis of patients with severe chronic idiopathic pericardial effusion. Material and Methods All patients in whom severe pericardial effusion was suspected were assessed prospectively from June 1992 to April 2005, using our Institution's protocol for the evaluation of pericardial disease. Of a total of 152 patients, 54 had severe chronic pericardial effusion; in 28 of them (52%) the effusion was categorized as idiopathic and they were hence included in this study. Results Mean age was 67 ± 11 years and 82% were men; 25 (89.3%) were symptomatic due to dyspnea, 4 (16%) had cardiac tamponade and 10 (35.7%) had incipient echocardiographic signs of cardiac tamponade. Mean follow-up was 60 months (3- 128 months). The three asymptomatic patients were not drained and had a favorable outcome (mean follow-up, 42 months). The 25 symptomatic patients were treated with pericardial drainage and 23 were followed (2 patients were lost to follow-up). In 14 patients (60.8%) there was no evidence of recurrent effusion, 3 (13%) had mild effusion, 2 (8.6%) had moderate effusion and 4 (17.2 %) had severe effusion. Of these 4 latter patients, 3 had dyspnea FC III-IV, and thus required pericardiectomy, with a good subsequent outcome. The other patient remained asymptomatic. Conclusions Patients with severe chronic idiopathic pericardial effusion may remain asymptomatic for long periods of time. In most patients who develop severe symptoms, pericardial drainage is effective. In symptomatic patients with recurrence of severe effusion after drainage, pericardiectomy offers an effective solution.

Objetivo Determinar la frecuencia, la presentación clínica, los métodos diagnósticos, el tratamiento, la evolución y el pronóstico alejado en pacientes con derrame pericárdico crónico severo idiopático. Material y métodos Se analizaron prospectivamente todos los pacientes con sospecha de derrame pericárdico severo, desde junio de 1992 a abril de 2005. Fueron evaluados de acuerdo con un protocolo de enfermedad pericárdica que se aplica en nuestra Institución. De un total de 152 pacientes, 54 presentaron derrame crónico severo, de los cuales 28 (52%) fueron catalogados como idiopáticos e incluidos en el presente estudio. Resultados La edad media fue de 67 ± 11 años, el 82% eran hombres, 25 (89,3%) se encontraban sintomáticos por disnea, 4 (16%) con taponamiento cardíaco y 10 (35,7%) con signos ecocardiográficos incipientes de taponamiento. El seguimiento promedio fue de 60 meses (3-128 meses). Los 3 pacientes asintomáticos no fueron drenados y tuvieron una evolución favorable (seguidos en promedio durante 42 meses). Los 25 pacientes sintomáticos se trataron con drenaje pericárdico y se realizó seguimiento en 23 (2 perdidos). En 14 (60,8%) de ellos no hubo recidiva de derrame, 3 (13%) presentaron derrame leve, 2 (8,6%) derrame moderado y 4 (17,2%) derrame severo. De estos últimos, 3 estaban con disnea III-IV, por lo que requirieron pericardiectomía, con buena evolución ulterior. El paciente restante permaneció asintomático. Conclusiones Los pacientes con derrame pericárdico crónico severo idiopático pueden permanecer asintomáticos durante largo tiempo. El drenaje pericárdico es eficaz en la mayoría de los casos en los que se desarrollan síntomas graves. En los pacientes sintomáticos con recidivas de derrame severo posterior al drenaje, la pericardiectomía resulta una solución eficaz.

Além de influenciar o crescimento corpóreo, o hormônio do crescimento, ou somatotrófico, desempenha importante papel no metabolismo, composição corporal, perfil lipídico, estado cardiovascular e longevidade. Seu controle é multi-regulado por hormônios, metabólitos e peptídeos hipotalâmicos. Dados sobre a Deficiência Isolada de GH (DIGH) obtidos a partir da descrição da mutação IVS1+1G®A no gene do receptor do hormônio liberador do GH (GHRH-R) em indivíduos da cidade de Itabaianinha, SE, são revisados. São abordadas novas perspectivas sobre o modelo de resistência ao GHRH, a importância do GHRH no controle da secreção de GH, a freqüência das mutações do gene do GHRH-R, a relevância diagnóstica do IGF-I e os achados metabólicos, cardiovasculares e de qualidade de vida nestes indivíduos.

In addition to stimulating body growth, growth or somatotrophic hormone plays an important role in metabolism, body composition, lipid profile, cardiovascular status and longevity. Its control is multiregulated by hormones, metabolites and hypothalamic peptides. Obtained data of the isolated growth hormone deficiency (IGHD) after the description of the IVS1+1G®A GHRH receptor gene mutation in individuals of Itabaianinha County are reviewed. New perspectives about the growth hormone resistance model, the importance of GHRH in the control of GH secretion, the frequency of GHRH-R gene mutations, the diagnostic relevance of IGF-I and the metabolic, cardiovascular and quality of life findings are approached.