Transthyretin familial amyloid polyneuropathy (TTR-FAP) in Mallorca: a comparison between late- and early-onset disease.

The age of onset (AO) of hereditary ATTR amyloidosis (hATTR) is known to vary between populations, with differing characteristics reported according to AO in endemic/non-endemic foci. This was a retrospective study of patients with early AO (<50 years) and late AO (≥50 years) hATTR at our center in Mallorca. Data were collected on patient demographics, clinical disease manifestation, and physical symptoms. A total of 95 patients were analyzed, with mean follow-up of 9 years from diagnosis. The early AO group included 53 patients (33 male) and the late AO group included 42 patients (21 male). Neurologic involvement was the most common initial symptom, although it was significantly more frequent in the late AO vs. early AO group (p = 0.015). Autonomic involvement was observed in 26% of patients in the early AO group, but was rarely observed in the late AO group (5%). During follow up, cardiologic symptoms, renal involvement, and ophthalmologic symptoms were significantly more common in the late AO group (p < 0.05). This retrospective study demonstrates the variation in disease presentation and progression according to AO of hATTR at our Mallorcan center.

Serosal involvement in IgG4-related disease: report of two cases and review of the literature.

IgG4-related disease (IgG4-RD) is a recently described entity characterized by lymphoplasmacytic infiltrates, usually mimicking tumors, affecting almost every organ or system. Nevertheless, serosal involvement has been rarely reported. In this article, we report two cases of IgG4-RD with serosal involvement and review the literature. Because of the varied clinical pictures found in our review, we suggest a new terminology for the description of IgG4-RD with serosal involvement.

[Symptomatic acute Q fever: a series of 87 cases in an area of Mallorca]. / Fiebre Q aguda sintomática: 87 casos en un área de Mallorca.

INTRODUCTION: Q fever is a widespread zoonotic infection caused by Coxiella burnetii (C. burnetii). Acute infection varies from a self-limited flu-like illness to pneumonia or hepatitis. METHODS: A retrospective case study from March 2003 to December 2011 was conducted in the Hospital Son Llàtzer in Palma de Mallorca. Acute Q-fever was diagnosed in a patient with clinical suspicion and IgM in phase ii positive (≥ 1/40), with a positive IgG (≥1/80), or when IgG seroconversion was observed during convalescence. A total of 87 cases of acute Q fever were diagnosed. The median age was 50 years (range 21-89), and 69 (79.3%) were male. Fever and headache were the most common symptoms. Pneumonia was diagnosed in 39 (44.8%) patients, febrile episode in 21 (24.1%), and acute hepatitis in 23 (25.6%). Increased serum transaminases were observed in 19 (21.8%). Doxycycline was prescribed in 29 cases (33.4%). There were 30 (34.5%) patients lost to follow up after hospital discharge. A favorable outcome was observed in all other cases. Only one new case progressed to chronic Q fever. RESULTS: A total of 87 cases of acute Q fever were diagnosed. The median age was 50 years (range 21-89), and 69 (79.3%) were male. Fever and headache were the most common symptoms. Pneumonia was diagnosed in 39 (44.8%) patients, febrile episode in 21 (24.1%), and acute hepatitis in 23 (25.6%). Increased serum transaminases were observed in 19 (21.8%). Doxycycline was prescribed in 29 cases (33.4%). There were 30 (34.5%) patients lost to follow up after hospital discharge. A favorable outcome was observed in all other cases. Only one new case progressed to chronic Q fever. CONCLUSION: Acute Q fever acute is common our environment. Pneumonia was the most common clinical presentation. Even although doxycycline was prescribed in a small number of patients, a favorable outcome was observed in all cases.

Mortality reduction in older COVID-19-patients hospitalized in Spain during the second pandemic wave from the SEMI-COVID-19 Registry.

In 2020, the COVID-19 pandemic followed a two-wave pattern in most countries. Hospital admission for COVID-19 in one wave or another could have affected mortality, especially among the older persons. The objective of this study was to evaluate whether the admission of older patients during the different waves, before SARS-CoV-2 vaccination was available, was associated with a different mortality. We compared the mortality rates of patients hospitalized during 2020 before (first wave) and after (second wave) July 7, 2020, included in the SEMI-COVID-19 Registry, a large, multicenter, retrospective cohort of patients admitted to 126 Spanish hospitals for COVID-19. A multivariate logistic regression analysis was performed to control for changes in either the patient or disease profile. As of December 26, 2022, 22,494 patients had been included (17,784 from the first wave and 4710 from the second one). Overall mortality was 20.4% in the first wave and 17.2% in the second wave (risk difference (RD) - 3.2%; 95% confidence interval (95% CI) - 4.4 to - 2.0). Only patients aged 70 and older (10,973 patients: 8571 in the first wave and 2386 in the second wave) had a significant reduction in mortality (RD - 7.6%; 95% CI - 9.7 to - 5.5) (unadjusted relative risk reduction: 21.6%). After adjusting for age, comorbidities, variables related to the severity of the disease, and treatment received, admission during the second wave remained a protective factor. In Spain, patients aged 70 years and older admitted during the second wave of the COVID-19 pandemic had a significantly lower risk of mortality, except in severely dependent persons in need of corticosteroid treatment. This effect is independent of patient characteristics, disease severity, or treatment received. This suggests a protective effect of a better standard of care, greater clinical expertise, or a lesser degree of healthcare system overload.

Validation of the RIM Score-COVID in the Spanish SEMI-COVID-19 Registry.

The significant impact of COVID-19 worldwide has made it necessary to develop tools to identify patients at high risk of severe disease and death. This work aims to validate the RIM Score-COVID in the SEMI-COVID-19 Registry. The RIM Score-COVID is a simple nomogram with high predictive capacity for in-hospital death due to COVID-19 designed using clinical and analytical parameters of patients diagnosed in the first wave of the pandemic. The nomogram uses five variables measured on arrival to the emergency department (ED): age, sex, oxygen saturation, C-reactive protein level, and neutrophil-to-platelet ratio. Validation was performed in the Spanish SEMI-COVID-19 Registry, which included consecutive patients hospitalized with confirmed COVID-19 in Spain. The cohort was divided into three time periods: T1 from February 1 to June 10, 2020 (first wave), T2 from June 11 to December 31, 2020 (second wave, pre-vaccination period), and T3 from January 1 to December 5, 2021 (vaccination period). The model's accuracy in predicting in-hospital COVID-19 mortality was assessed using the area under the receiver operating characteristics curve (AUROC). Clinical and laboratory data from 22,566 patients were analyzed: 15,976 (70.7%) from T1, 4,233 (18.7%) from T2, and 2,357 from T3 (10.4%). AUROC of the RIM Score-COVID in the entire SEMI-COVID-19 Registry was 0.823 (95%CI 0.819-0.827) and was 0.834 (95%CI 0.830-0.839) in T1, 0.792 (95%CI 0.781-0.803) in T2, and 0.799 (95%CI 0.785-0.813) in T3. The RIM Score-COVID is a simple, easy-to-use method for predicting in-hospital COVID-19 mortality that uses parameters measured in most EDs. This tool showed good predictive ability in successive disease waves.

Early diagnosis in patients with transthyretin familial amyloid polyneuropathy: A comparative study. / Diagnóstico precoz en pacientes con polineuropatía amiloidótica familiar asociada a transtirretina. Estudio comparativo.

INTRODUCTION AND OBJECTIVE: Transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) is a disease caused by the deposit of abnormal transthyretin on tissues, mainly nerves. Small nerve fibers are altered earlier during the course of the disease; hence, detection of their involvement may have serious consequences on the natural history of disease. METHODS: A cross-sectional, observational study, was carried out on symptomatic patients, involving the conduct of several tests for small nerve fibers: Vibration, Touch Pressure (TP) and Heat Pain (HP). Results were compared with those obtained during a conventional neurological examination carried out on a group of healthy individuals. RESULTS: Fifteen symptomatic patients were recruited at an early stage of the disease (60% stage 1), along with 13 healthy individuals, with both patient groups having similar epidemiological characteristics in terms of gender, age, weight, height or BMI. A comparison carried out between the neuropsychological tests performed revealed statistically significant differences: Vibration (P<.05), TP (P<.05) and HP (P<.05, except volar forearm). CONCLUSIONS: The neurophysiological tests performed revealed significant differences between both groups, allowing for an earlier detection of neurological injuries compared to conventional neurological examinations.

Role of QuantiFERON(®)-TB Gold In-Tube in tuberculosis contact investigation: experience in a tuberculosis unit.

BACKGROUND: Interferon-γ release assays (IGRAs) are increasingly used for the diagnosis of latent tuberculosis infection (LTBI). Because of the lack of a gold standard for the diagnosis of LTBI, IGRAs are compared to the tuberculin skin test (TST) and yield conflicting results. We assessed the usefulness of an IGRA test, QuantiFERON(®)-TB Gold In-Tube (QFT-G-IT), for diagnosing LTBI compared with TST in the setting of a contact screening study. METHODS: A prospective comparison between the QFT-G-IT and the TST in TB contact subjects in a low TB burden area was conducted sequentially between January 2006 and December 2012. RESULTS: A moderate concordance between the two tests (κ = 0.44 for TST cut-off of 5 mm and κ = 0.56 for TST cut-off of 15 mm) was found. A better agreement was shown in younger contacts and in non-vaccinated contacts when using a TST of 15 mm. Independent risk factors for a TST(+)/QFT-G-IT(-) discordance were history of BCG vaccination and age between 31 and 59 years. Discordance was also more frequent using a TST cut-off value of 5 mm. QFT-G-IT(+)/TST(-) was infrequent and was found in older contacts. CONCLUSIONS: Based on our data, we cannot recommend the use of QFT-G-IT as the only test to rule out LTBI, especially in older patients.

Fiebre Q aguda sintomática: 87 casos en un área de Mallorca / Symptomatic acute Q fever: A series of 87 cases in an area of Mallorca

INTRODUCCIÓN: La fiebre Q (FQ) es una zoonosis de distribución mundial causada por Coxiella burnetii ( C . burnetii). La infección aguda puede cursar asintomática o producir síndrome febril, hepatitis o neumonía y la infección crónica se suele presentar como endocarditis. Los datos sobre FQ en las islas Baleares son escasos. Métodos Se presenta una serie de casos con información retrospectiva desde marzo de 2003 a diciembre de 2011 de los casos con serología y cuadro clínico compatible con FQ aguda en el Hospital Son Llàtzer de Palma de Mallorca. Se consideró FQ aguda cuando, en un paciente con sospecha clínica, el título de IgM en fase II fue positivo (≥ 1/40), con IgG positiva (≥ 1/80) o cuando existió en fase de convalecencia seroconversión del título de IgG a C. burnetii. Se diagnosticaron 87 casos de FQ aguda. La mediana de edad fue de 50 años (rango intercuartílico: 21-89) y 69 (79,3%) eran hombres. La fiebre y la cefalea fueron los síntomas más frecuentes. El diagnóstico fue de: neumonía en 39 (44,8%) pacientes, síndrome febril aislado en 21 (24,1%), hepatitis aguda en 19 (21,8%) y el resto otras entidades. En 52 casos (59,8%) existió alguna elevación de enzimas hepáticas. El tratamiento con doxiciclina (solo o en combinación) fue prescrito en 29 (33,4%). El seguimiento se realizó en 57 (65,5%) de los pacientes. La evolución fue favorable en la mayoría, solamente un paciente con FQ aguda presentó durante el seguimiento títulos compatibles con FQ crónica. CONCLUSIÓN: La FQ aguda sintomática es frecuente en nuestro medio. La afectación pulmonar fue predominante. Solo un tercio de los pacientes fueron tratados con doxiciclina. No hubo ningún seguimiento tras la primera determinación serológica en 30 pacientes (34,5%). No se evidenciaron complicaciones significativas en el curso de la infección

INTRODUCTION: Q fever is a widespread zoonotic infection caused by Coxiella burnetii (C. burnetii). Acuteinfection varies from a self-limited flu-like illness to pneumonia or hepatitis. METHODS: A retrospective case study from March 2003 to December 2011 was conducted in the Hospital Son Llàtzer in Palma de Mallorca. Acute Q-fever was diagnosed in a patient with clinical suspicion and IgMin phase II positive (≥ 1/40), with a positive IgG (≥1/80), or when IgG seroconversion was observed during convalescence. A total of 87 cases of acute Q fever were diagnosed. The median age was 50 years (range21-89), and 69 (79.3%) were male. Fever and headache were the most common symptoms. Pneumonia was diagnosed in 39 (44.8%) patients, febrile episode in 21 (24.1%), and acute hepatitis in 23 (25.6%).Increased serum transaminases were observed in 19 (21.8%). Doxycycline was prescribed in 29 cases(33.4%). There were 30 (34.5%) patients lost to follow up after hospital discharge. A favorable outcome was observed in all other cases. Only one new case progressed to chronic Q fever. RESULTS: A total of 87 cases of acute Q fever were diagnosed. The median age was 50 years (range 21-89), and 69 (79.3%) were male. Fever and headache were the most common symptoms. Pneumonia was diagnosed in 39 (44.8%) patients, febrile episode in 21 (24.1%), and acute hepatitis in 23 (25.6%). Increased serum transaminases were observed in 19 (21.8%). Doxycycline was prescribed in 29 cases (33.4%). There were 30 (34.5%) patients lost to follow up after hospital discharge. A favorable outcome was observed in all other cases. Only one new case progressed to chronic Q fever. CONCLUSION: Acute Q fever acute is common our environment. Pneumonia was the most common clinical presentation. Even although doxycycline was prescribed in a small number of patients, a favorable outcome was observed in all cases

Diagnóstico precoz en pacientes con polineuropatía amiloidótica familiar asociada a transtirretina. Estudio comparativo / Early diagnosis in patients with transthyretin familial amyloid polyneuropathy: A comparative study

Introducción y objetivo: La polineuropatía amiloidótica familiar causada por transtirretina) está caracterizada por la afectación del sistema nervioso. Las fibras nerviosas pequeñas se alteran de manera más precoz, por lo que la detección de su afectación tiene implicaciones serias en la historia natural de la enfermedad. Métodos: Estudio transversal, en el que se realizaron pruebas de detección de afectación de fibras nerviosas pequeñas en pacientes sintomáticos con TTR-PAF: Vibration, Touch Pressure (TP) y Heat Pain (HP). Los resultados se compararon con la exploración neurológica convencional y con un grupo de individuos sanos. Resultados: Se seleccionaron 15 pacientes con TTR-PAF en una fase precoz de la enfermedad (60% en estadio 1) y 13 individuos sanos. En la comparación entre ambos grupos no existían diferencias en cuanto a sexo, edad, peso, talla o IMC; sin embargo, en los test neurofisiológicos realizados se evidenciaron diferencias estadísticamente significativas: Vibration (p < 0,05), TP (p < 0,05) y HP (p < 0,05, excepto en la localización de antebrazo). Conclusiones: Los test neurofisiológicos realizados describen diferencias significativas entre ambos grupos, lo que podría permitir la detección del daño neurológico de forma más precoz que cuando se realiza una exploración neurológica convencional (AU)

Introduction and objective: Transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) is a disease caused by the deposit of abnormal transthyretin on tissues, mainly nerves. Small nerve fibers are altered earlier during the course of the disease; hence, detection of their involvement may have serious consequences on the natural history of disease. Methods: A cross-sectional, observational study, was carried out on symptomatic patients, involving the conduct of several tests for small nerve fibers: Vibration, Touch Pressure (TP) and Heat Pain (HP). Results were compared with those obtained during a conventional neurological examination carried out on a group of healthy individuals. Results: Fifteen symptomatic patients were recruited at an early stage of the disease (60% stage 1), along with 13 healthy individuals, with both patient groups having similar epidemiological characteristics in terms of gender, age, weight, height or BMI. A comparison carried out between the neuropsychological tests performed revealed statistically significant differences: Vibration (P < .05), TP (P < .05) and HP (P < .05, except volar forearm). Conclusions: The neurophysiological tests performed revealed significant differences between both groups, allowing for an earlier detection of neurological injuries compared to conventional neurological examinations (AU)