Seventy years of pheochromocytomas and paragangliomas in Argentina. The FRENAR database.

Pheochromocytomas and paragangliomas (PPGL) are neuroendocrine tumors characterized by the excessive production of catecholamines. This study aims to describe the clinical characteristics of PPGL cases in Argentina over recent decades. A multicenter retrospective cross-sectional analysis was carried out using a database comprising both pediatric and adult patients with confirmed PPGL diagnoses based on pathological reports. A cohort of 486 patients with PPGL was recruited. Women represent 58.4% of the patients, with a mean age of 38.3 years old at the time of diagnosis and 15.2% of the patients were under the age of 18. Hypertension, as well as classic signs and symptoms, were present in 80.9% of the patients. The adrenal incidentaloma, as a mode of presentation, increased in the last two decades rising from 3.9% (1953-2000) to 21.8% (2001-2022), p<0.001. Most tumors were located within the adrenal glands, accounting 83.0% of the cases, with bilateral occurrences noted in 20.0%. The median tumor size was 4.8cm. Local recurrence and metastases were observed in 10.9% and 12.2%. Out of 412 patients, 87.0% exhibited urinary excretion elevation of catecholamines and/or their metabolites. Furthermore, 148 patients, representing 30.4% of the study population, displayed a distinct genetic profile indicative of hereditary syndromes. The distribution of hereditary syndromes revealed that MEN2, VHL, and PGL4 constituted the most prevalent syndromes. This population-based study, spanning seven decades, offers valuable insights into the demographic and clinical characteristics of PPGL patients in Argentina.

Primary Intestinal-type Adenocarcinoma of the Nasal Cavity: A Case Report.

We report a rare case of sinonasal intestinal-type adenocarcinoma in the nasal cavity. A 31-year old man represented with headache and epistaxis. We identified a malignant tumour, which is a rare pathology, with detailed physical examination, anterior rhinoscopy, computed tomography scan, magnetic resonance imaging and histopathologic examination. Endoscopic excision of the tumour was performed. After three years of follow-up of the patient in our clinic, there was no sign of any recurrence.

A case report: primary melanoma of the nasal cavity / Un reporte de caso: melanoma primario de la cavidad nasal

We report a rare case of sinonasal mucosal malignant melanoma in the nasal cavity. The patient had respiratory difficulty, continuous epistaxis and nasal pain. We identified a malignant tumour which is a rare pathology with detailed physical examination, anterior rhinoscopy, computed tomography (CT) scan, magnetic resonance imaging (MRI) and histopathologic examination. The patient did not accept surgical procedures and was referred for chemotherapy or immunotherapy. Continued follow-up of this is necessary.

Reportamos un caso raro de melanoma maligno de la mucosa del tracto nasosinusal. El paciente tenía dificultad respiratoria, epistaxis continua, y dolor nasal. Identificamos un tumor maligno que es una patología, con examen físico detallado, rinoscopia anterior, tomografía computarizada (TC), resonancia magnética (MRI) y examen histopatológico. El paciente no aceptaba los procedimientos quirúrgicos y fue remitido para quimioterapia o inmunoterapia. Es necesario realizar un seguimiento continuo.

Psychopathology and psychiatric co-morbidities in patients seeking rhinoplasty for cosmetic reasons.

AIM: The purpose of the study was to examine psychopathological traits and psychiatric co-morbidities in seekers of cosmetic rhinoplasty. SUBJECTS AND METHODS: Fifty persons seeking cosmetic rhinoplasty and 50 control subjects were admitted to the study. Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI) and Symptom Checklist-90 [Revised] (SCL-90-R) were administered to people who requested cosmetic rhinoplasty and control subjects. All participants were also screened by the Structured Clinical Interview for DSM-IV-(SCIDI/CV, SCID-II). RESULTS: Thirteen cosmetic rhinoplasty seekers [CRS] (26%) and three control subjects (6%) had at least one psychiatric diagnosis. There was a significant difference between the two groups (p = 0.006). Beck depression inventory (p = 0.002) and BAI (p = 0.046) levels above the cut-off point were significantly higher in the CRS group than in the normal control. Somatoform disorders were statistically higher in the CRS than control group (p = 0.007). Nine CRS (18%) and two control subjects (4%) had at least one personality disorder. There were differences between the two groups (p = 0.025). The average of SCL-90-R was significantly higher in the CRS than in the control subjects (p < 0.001). The most prevalent somatoform disorders of the CRS were six with body dysmorphic disorder [BDD] (12%). The most prevalent personality disorders of the CRS were three with avoidant (6%) and three with narcissistic (6%) personality. CONCLUSION: Assessment of detailed psychopathological aspects and psychiatric co-morbidities could help to define the clinical profile of people requesting cosmetic rhinoplasty in cosmetic surgery settings. Research into these factors may be important as it is essential to detect crucial problems such as personality disorders and BDD before surgery.

A case report: primary melanoma of the nasal cavity.

We report a rare case of sinonasal mucosal malignant melanoma in the nasal cavity. The patient had respiratory difficulty, continuous epistaxis and nasal pain. We identified a malignant tumour which is a rare pathology with detailed physical examination, anterior rhinoscopy, computed tomography (CT) scan, magnetic resonance imaging (MRI) and histopathologic examination. The patient did not accept surgical procedures and was referred for chemotherapy orimmunotherapy. Continued follow-up of this is necessary.

Psychopathology and psychiatric co-morbidities in patients seeking rhinoplasty for cosmetic reasons / Psicopatología y comorbilidad psiquiátrica en pacientes que buscan rinoplastia por razones cosméticas

AIM: The purpose of the study was to examine psychopathological traits and psychiatric co-morbidities in seekers of cosmetic rhinoplasty. SUBJECTS AND METHOD: Fifty persons seeking cosmetic rhinoplasty and 50 control subjects were admitted to the study. Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI) and Symptom Checklist - 90 [Revised] (SCL-90-R) were administered to people who requested cosmetic rhinoplasty and control subjects. All participants were also screened by the Structured Clinical Interview for DSM-IV-(SCIDI/ CV, SCID-II). RESULTS: Thirteen cosmetic rhinoplasty seekers [CRS] (26%) and three control subjects (6%) had at least one psychiatric diagnosis. There was a significant difference between the two groups (p = 0.006). Beck depression inventory (p = 0.002) and BAI (p = 0.046) levels above the cut-off point were significantly higher in the CRS group than in the normal control. Somatoform disorders were statistically higher in the CRS than control group (p = 0.007). Nine CRS (18%) and two control subjects (4%) had at least one personality disorder. There were differences between the two groups (p = 0.025). The average of SCL-90-R was significantly higher in the CRS than in the control subjects (p < 0.001). The most prevalent somatoform disorders of the CRS were six with body dysmorphic disorder [BDD] (12%). The most prevalent personality disorders of the CRS were three with avoidant (6%) and three with narcissistic (6%) personality. CONCLUSION: Assessment of detailed psychopathological aspects and psychiatric co-morbidities could help to define the clinical profile of people requesting cosmetic rhinoplasty in cosmetic surgery settings. Research into these factors may be important as it is essential to detect crucial problems such as personality disorders and BDD before surgery.

OBJETIVO: El propósito del estudio fue examinar los rasgos psicopatológicos y las comorbilidades psiquiátricas en los solicitantes de rinoplastia cosmética. SUJETOS Y MÉTODO: Cincuenta personas que buscaban rinoplastia cosmética, y 50 sujetos de control fueron registrados en el estudio. El Inventario de Depresión de Beck (BDI), el Inventario de Ansiedad de Beck (BAI), y el Listado de Síntomas 90 (Revisado) (SCL 90), fueron aplicados a las personas que solicitaron rinoplastia cosmética y a los sujetos del control. Todos los participantes fueron también sometidos a tamizaje mediante la Entrevista Clínica Estructurada para DSM - IV-(SCID-/ CV, SCIDII). RESULTADOS: Trece solicitantes de rinoplastia cosmética solicitantes (SRC) (26%) y tres sujetos de control (6%) tuvieron al menos un diagnóstico psiquiátrico. Hubo una diferencia significativa entre los dos grupos (p = 0.006). Los niveles de BDI (p = 0,002) y BAI (p = 0.046) por encima del valor límite, fueron significativamente más altos en el grupo de SRC que en el grupo control normal. Los trastornos somatoformes fueron estadísticamente más altos en el grupo SRC que en el grupo control (p = 0.007). Nueve SRC (18%) y dos sujetos de control (4%) tenían al menos un trastorno de personalidad. Hubo diferencias entre los dos grupos (p = 0. 025). El promedio de SCL-90-R fue significativamente más alto en el grupo de SRC que en los sujetos del grupo control (p < 0.001). Los trastornos somatoformes más prevalentes de SRC fueron seis con trastorno dismórfico corporal (TDC) (12%). Los trastornos de personalidad más prevalentes de SRC fueron: tres con trastorno de la personalidad por evitación (6%) y tres con personalidad narcisista (6%). CONCLUSIÓN: La evaluación de los aspectos psicopatológicos detallados y las comorbilidades psiquiátricas podrían ayudar a definir el perfil clínico de las personas que solicitan rinoplastia cosmética en los escenarios de cirugía cosmética. La investigación en estos factores puede ser importante, ya que es esencial para detectar problemas cruciales tales como los trastornos de personalidad y TDC antes de la cirugía.

Psychopathological evaluation of patients requesting cosmetic rhinoplasty: a review.

OBJECTIVE: The goal of this review is to discuss possible underlying psychopathological situations in patients requesting surgical cosmetic rhinoplasty operation and to examine potential problems that might arise. SUBJECTS AND METHODS: An extensive search was conducted through PubMed, Ambase and Psychlnfo by using related keywords in English, like "rhinoplasty and psychiatric comorbidities", "rhinoplasty and psychopathology". RESULTS: Patients who demand cosmetic rhinoplasty operation appealed to the surgeon since they wanted to feel better about themselves after the surgery. Indeed, some long-term studies determined that such a situation can take place at high rates. However, some studies reported the possibility of serious psychological disorders after such surgical operations. Studies relating to the analysis of psychopathologic symptoms are quite limited. Research has shown that psychopathologic evaluation conducted preoperatively is especially important to identify serious psychopathologies such as personality disorders and body dysmorphic disorder (BDD). CONCLUSIONS: Exclusion of patients possessing serious psychopathologies from operations provides better results in the long term. The lack of sufficient research in this area necessitates new and comprehensive studies.

Psychopathological evaluation of patients requesting cosmetic rhinoplasty a review / Evaluación psicopatológica de pacientes que requieren rinoplastia cosmética una revisión

OBJECTIVE: The goal of this review is to discuss possible underlying psychopathological situations in patients requesting surgical cosmetic rhinoplasty operation and to examine potential problems that might arise. SUBJECTS AND METHODS: An extensive search was conducted through PubMed, Ambase and PsychInfo by using related keywords in English, like "rhinoplasty and psychiatric comorbidities ", "rhinoplasty and psychopathology". RESULTS: Patients who demand cosmetic rhinoplasty operation appealed to the surgeon since they wanted to feel better about themselves after the surgery. Indeed, some long-term studies determined that such a situation can take place at high rates. However, some studies reported the possibility of serious psychological disorders after such surgical operations. Studies relating to the analysis of psychopathologic symptoms are quite limited. Research has shown that psychopathologic evaluation conducted preoperatively is especially important to identify serious psychopathologies such as personality disorders and body dysmorphic disorder (BDD). CONCLUSIONS: Exclusion of patients possessing serious psychopathologies from operations provides better results in the long term. The lack of sufficient research in this area necessitates new and comprehensive studies.

OBJETIVO: El propósito de esta revisión es discutir las posibles situaciones psicopatológicas detrás de pacientes que solicitan la operación de rinoplastia quirúrgica cosmética, y examinar problemas potenciales que podrían suscitarse. SUJETOS Y MÉTODOS: Se llevó a cabo una búsqueda extensa a través de PubMed, Ambase y PsychInfo usando palabras claves en inglés, como "rinoplastia y comorbidades psiquiátricas " "rinoplastia y psicopatología ". RESULTADOS: Pacientes que solicitaban una operación de rinoplastia cosmética, apelaron al cirujano expresando que deseaban sentirse mejor luego de la cirugía. En realidad, algunos estudios a largo plazo determinaron que una situación semejantepuede tener una alta tasa de ocurrencia. Sin embargo, otros estudios reportan la posibilidad de trastornos psicológicos serios Los estudios que se refieren al análisis de síntomas psicopatológicos, son muy limitados. Las investigaciones han demostrado que realizar una evaluación psicopatológica antes de la operación, es en extremo importante [ara identificar serias psicopatologías tales como trastornos de la personalidad y Trastorno Dismórfico Corporal (TDC). CONCLUSIONES: El excluir a los pacientes con serias psicopatologías de las operaciones arroja mejores resultados a largo plazo. La insuficiente investigación en esta área apunta a la necesidad de que se realicen estudios nuevos y abarcadores.

Estudios de la región 5'UTR del gen FMR-1 en pacientes con falla ovárica prematura / Studies of the 5' - UTRTR region in the FMR-1 gene in patients withe Premature Ovarian Failure

La falla ovárica prematura (FOP) es un síndrome de patogénesis multicausal que afecta aproximadamente al 1% de las mujeres en edad reproductiva. Numerosos estudios asocian el estado de premutación (amplificación del número de tripletes CGG entre 50/55 y 200 repeticiones) en el gen FMR-1 y FOP. Alrededor de un 4% de las pacientes FOP presentan alelos con premutación. La amplificación del número de tripletes por encima de 200 repeticiones causa el Síndrome de Fragilidad del X (SFX). El objetivo del presente trabajo fue estudiar la región 5´ no codificante del gen en un grupo de pacientes FOP de Argentina. La región de interés se amplificó por PCR a partir de muestras de ADN de 100 pacientes FOP y 145 mujeres controles. Los alelos de las pacientes y controles fueron agrupados en 7 categorías de acuerdo al número de tripletes obtenidos. Se observó que el número de repeticiones más frecuente se encuentra en el rango de 26 a 30 tripletes, tanto en pacientes como en controles. En el grupo de pacientes FOP, 5/197 (2.6%) alelos no relacionados estudiados presentaron un número de tripletes CGG mayor a 50, mientras que sólo 1 de 290 (0.34%) para el grupo control. Todas las pacientes FOP con valores de tripletes CGG mayor a 50 presentaron amenorrea secundaria. Estos resultados están en concordancia con lo comunicado para otras poblaciones acerca de la existencia de una asociación entre la premutación del gen FMR-1 y el desarrollo de FOP. Asimismo, los resultados obtenidos refuerzan la importancia de la genotipificación del gen FMR-1 en las pacientes FOP, a los efectos de estimar el riesgo de su descendencia para el SFX.

Premature ovarian failure (POF) is a syndrome of multicausal pathogenesis that affects 1% of women before the age of 40. Several studies associate the premutation state (CGG repeats increased in number between 50/55 and 200) in the FMR-1 gene and POF. About 4% of POF women have alleles in the FMR-1 gene in the permutation range. An increase above 200 in the number of triplets in this gene causes the Fragile X Syndrome (FXS). The purpose of the present study was to analyze the 5´untranslated region of the FMR-1 gene in a group of patients from Argentina. The region of interest was amplified by PCR from DNA samples of 100 POF patients and 145 control women. Alleles from controls and patients were grouped in 7 categories according to the number of triplets obtained. We observed that the most frequent number of repeats ranged from 26 to 30 triplets, in both patient and control groups. In the POF group, 5 out of 197 (2.6%) not related alleles presented a number of CGG triplets higher than 50, while only 1 out of 290 (0.34%) was present in controls. All POF patients with a number of CGG repeats higher than 50 presented secondary amenorrhea. These results are in accordance with previous reports from other populations showing an association between the premutation state in the FMR-1 gene and POF development. In addition, these results reinforce the importance of genotyping POF patients to estimate the risk of their offspring for Fragile X Syndrome.

Determinación del valor de corte de la relación aldosterona/actividad de renina plasmática para la detección de hiperaldosteronismo primario en hipertensión arterial esencial: estudio multicéntrico / Determination of the Aldosterone/Plasma Renin Activity Ratio for the Screening of Primary Hyperaldosteronism in Essential Hypertension: a Multicentric Study

El hiperaldosteronismo primario (HAP) es una afección caracterizada por la producción inapropiadamente elevada y una relativa autonomía del sistema renina-angiotensina. Estimaciones previas, basadas sólo en la evaluación de hipertensos con hipokalemia, consideraban al HAP como una causa poco frecuente de hipertensión (1%). Sin embargo, estudios actuales fundamentados en el cálculo de la relación aldosterona/ actividad de renina plasmática (RAA) arrojan una incidencia mayor (5-10%), siendo la hipertensión arterial (HTA) normokalémica la presentación más frecuente. Dada la amplitud de los valores de corte de la RAA, el Departamento de Suprarrenal de SAEM diseñó un estudio multicéntrico prospectivo en una población de Argentina con el objetivo de establecer nuestro propio valor y determinar así la prevalencia de HAP. Fueron estudiados 353 individuos de ambos sexos, 104 controles normotensos, sin antecedentes familiares de HTA y 249 pacientes hipertensos. Se indicó dieta normosódica y la suspensión de antihipertensivos que interfieran con el eje mineralocorticoideo. Las determinaciones de la actividad de renina plasmática (ARP), DIA-SorinRIA, y de aldosterona, RIA-DPC, fueron realizadas en un único laboratorio. Se realizó ionograma y se evaluaron parámetros clínicos y bioquímicos de síndrome metabólico. La RAA calculada según el percentilo 95 en los controles, fue establecida en la cifra de 36 como valor de corte para sospechar HAP en los hipertensos, requiriéndose una concentración de aldosterona >15 ng/ml. Con una RAA≥36, se realizaron pruebas confirmatorias de sobrecarga salina o de fludrocortisona. La RAA fue ≥36 en 31/249 pacientes, confirmándose HAP en 8 (7 adenomas y 1 hiperplasia), con una prevalencia del 3.2%. Los restantes no completaron estudios confirmatorios. La presencia de síndrome metabólico fue similar en los hipertensos con y sin HAP. En conclusión, este primer estudio multicéntrico argentino determinó nuestro valor de corte de la RAA en 36. Su aplicación permitió establecer una prevalencia de HAP del 3,2% que, aunque podría estar subestimada, resulta significativamente mayor que la previa histórica y concuerda con la incidencia referida en la bibliografía.

Primary hyperaldosteronism (PHA) or Conn's disease was classically suspected in the presence of hypertension (H) and hypokalemia. It was previously considered as a rare cause of H, being reported in only 1% of hypertensive patients. It can be caused by an adrenal adenoma (the former usual presentation) or by adrenal hyperplasia. But since the use of the aldosterone/plasma renin activity ratio (AAR) as the screening method in the last years, it is currently considered as almost the most frequent cause of secondary H., accounting for 5-10% of essential H. Plasma rennin activity (PRA) determination is a laborious procedure with low reproducibility and it directly affects the AAR; thus each laboratory must assess its own cut-off value. Therefore, in the Adrenal Department of the Argentine Society of Endocrinology and Metabolism (SAEM), we performed this multicentric prospective study of a population of Argentina with the aim of assessing our own AAR cut-off level in normotensive controls in order to apply it for PHA screening in essential hypertensive patients. We studied 353 adult subjects: 104 controls, aged 45,18 ± 13,78 years-old ( X±SD), with no history of arterial hypertension in their first-degree relatives and with two separate day-registry of blood pressure≤ 139/85 mmHg and 249 hypertensive patients, aged 51± 13,6 years-old ( X ± SD), with arterial blood pressure≥ 140/90 mmHg in the sitting position. Subjects with cardiac, renal, hepatic and neurological diseases were excluded as well as those with Cushing´s syndrome, hyperthyroidism, untreated hypothyroidism, diabetes mellitus and patients under glucocorticoids, oral contraceptive pills or estrogen therapy. A normal sodium diet was indicated and potassium was supplemented when needed. Blood was withdrawn between 8 and 10:00 a.m. with the subjects in the upright position. Aldosterone (A) was determined by DPC radioimmunoassay (RIA) and PRA, by DIA-Sorin RIA. The A normal levels are 4-30 ng/dl for ambulatory individuals on a normal sodium diet and the PRA normal values are < 3,3 ng/ml/h. In order to avoid false positive results in the hypertensive group, AAR was calculated when A was above 15 ng/dl. We measured the waist circumference and we determined the body mass index. Blood sodium, potassium, calcium, urea, creatinine, cholesterol, HDL-C, LDL-C, triglyceride and liver function tests were performed. Statistical Analysis and Results Since the AAR variable showed a non-normal distribution, the cut-off value was considered as the 95th percentile in the control group, which was calculated as 36. This is also in accordance to the function of the empirical distribution of Collings and Hamilton. In our 249 hypertensive patients, 31 had an AAR ≥ 36. PHA was confirmed in 8: seven has an adrenal adenoma and one had hyperplasia. The prevalence of PHA in our population was 3,2 %, with a 95th confidence interval ranging from 1,4 to 6,2 %. In the remaining 23 patients, confirmatory tests could not be completed. There was no correlation between the severity of the hypertension and the AAR value, with no statistical significant differences between those with or without PHA. Likewise, we found no correlation between PRA and advancing age. In hypertensive patients, metabolic syndrome was more prevalent than in controls, but it was present to the same extent in those with or without PHA. Conclusions To our knowledge, this is the first multicentric study performed in Argentina to determine the aldosterone/ plasma renin activity ratio in our normotensive control population. Our AAR value of 36 agrees with the levels reported in the international literature: thus an AAR ≥ 36 along with an aldosterone ≥ 15 ng/ml in hypertensive patients lead us to suspect PHA and to perform confirmatory tests. Applying these criteria, we found a prevalence of 3,2% of PHA in essential HTA. It is possible that this value may be underestimated due to the fact that confirmatory tests could not be completed in all the hypertensive subjects with an AAR≥ 36. In spite of this, our prevalence is significantly greater than the historical one and it lies in the range reported in the literature.

Penetrance and clinical manifestations of non-hotspot germline RET mutation, C630R, in a family with medullary thyroid carcinoma.

Germline mutations in specific hot spot-codons of the RET proto-oncogene are associated with multiple endocrine neoplasia type 2 (MEN 2). Clinical RET gene testing has been routine for the last 10 years in some countries. In Argentina, RET testing excluding MEN 2B was always reported with a mutation at codon 634, with one exception: we described a novel mutation T > C transition at codon 630 (C630R), the family to which we extend the study in the present report. This family comprised 29 members in four generations including 6 individuals affected with medullary thyroid cancer (MTC), positive for the C630R mutation and normal adrenaline/ noradrenaline and ionized calcium/parathyroid hormone levels. Two asymptomatic mutation carriers aged 5 and 11 years underwent total thyroidectomy. The histopathologic examination showed C-cell hyperplasia and microcarcinoma foci, while preoperative basal calcitonins were normal for both. Our report emphasizes the importance of testing for non-hot spot RET mutations in apparently mutation negative MEN 2 families. Furthermore, it would appear that C630R mirrors C634R in penetrance (100% in this family) and in early age of onset of MTC, although paradoxically, no pheochromocytomas and hyperparathyroidism have developed. In addition to recommending RET testing before 5 years of age; we also can postulate that codon 630 may be the key point along the extracellular domain, important in the tissue-specific penetrance.

An in vitro test model for investigation of disinfection of dentinal tubules infected with Enterococcus faecalis.

The aim of the present study was to develop an in vitro test model from human teeth to comparatively examine antibacterial effectiveness of calcium hydroxide, parachlorophenol (PCP) and camphorated parachlorophenol (CPCP) against Enterococcus faecalis in infected root canals. Cylindrical dentin specimens were prepared from freshly extracted human maxillary anterior teeth. The specimens were inoculated with E. faecalis and then medicated with either CPCP, PCP or Ca(OH)2. The disinfecting efficacy of these agents was tested by collecting dentin chips from the inner ("canal") walls of the specimens and counting viable E. faecalis. The dentin chips were diluted and a classical bacterial count technique was used for recovery of E. faecalis strains of 5% sheep blood agar. The effectiveness of CPCP and PCP at one day was superior to the effectiveness of Ca(OH)2. In the three-day group, CPCP was the most effective, followed by Ca(OH)2. The experimental model used in this study may be useful for investigation of the effect of intracanal medicaments on microorganisms lodged in the root dentinal tubules.