Gustavo Bittencourt Camilo

Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations

Overgrowth syndromes comprise a heterogeneous group of diseases that are characterized by excessive tissue development. Some of these syndromes may be associated with dysfunction in the receptor tyrosine kinase (RTK)/PI3K/AKT pathway, which results in an increased expression of the insulin receptor. In the current review, four overgrowth syndromes were characterized (Proteus syndrome, Klippel-Trenaunay-Weber syndrome, Madelungs disease, and neurofibromatosis type I) and illustrated using cases from our institution. Because these syndromes have overlapping clinical manifestations and have no established genetic tests for their diagnosis, radiological methods are important contributors to the diagnosis of many of these syndromes. The correlation of genetic discoveries and molecular pathways that may contribute to the phenotypic expression is also of interest, as this may lead to potential therapeutic interventions.

On the functional capacity and quality of life of patients with acromegaly: are they candidates for rehabilitation programs?

[Purpose] This study compared patients having active acromegaly with those having controlled acromegaly in terms of peripheral muscle strength, body composition, and functional capacity. We also examined the associations between these measures. [Methods] A total of 14 patients with active acromegaly, 12 patients with controlled acromegaly, and 12 healthy controls were subjected to isometric dynamometry, surface electromyography, electrical bioimpedance, and a six-minute walk test. [Results] The active acromegaly group exhibited significantly more fat-free mass than the control group. With respect to the peripheral muscle performance, the controlled acromegaly group presented a significantly lower electromyographic median frequency than the control group. The quadriceps maximum strength was significantly lower in the controlled acromegaly group than in the control group. The fat-free mass was significantly correlated with the quadriceps maximum strength. The global scores of the Acromegaly Quality of Life Questionnaire were significantly correlated with the six-minute walk distance. [Conclusion] Patients with acromegaly have more fat-free mass, less peripheral muscle strength, and greater fatigability than healthy control subjects. These findings depend on the degree of hormonal control. In acromegalic patients, peripheral muscle strength is related to body composition, and functional capacity is correlated with quality of life.

Correlations between forced oscillation technique parameters and pulmonary densitovolumetry values in patients with acromegaly

The aims of this study were to evaluate the forced oscillation technique (FOT) and pulmonary densitovolumetry in acromegalic patients and to examine the correlations between these findings. In this cross-sectional study, 29 non-smoking acromegalic patients and 17 paired controls were subjected to the FOT and quantification of lung volume using multidetector computed tomography (Q-MDCT). Compared with the controls, the acromegalic patients had a higher value for resonance frequency [15.3 (10.9-19.7) vs 11.4 (9.05-17.6) Hz, P=0.023] and a lower value for mean reactance [0.32 (0.21-0.64) vs 0.49 (0.34-0.96) cm H2O/L/s2, P=0.005]. In inspiratory Q-MDCT, the acromegalic patients had higher percentages of total lung volume (TLV) for nonaerated and poorly aerated areas [0.42% (0.30-0.51%) vs 0.25% (0.20-0.32%), P=0.039 and 3.25% (2.48-3.46%) vs 1.70% (1.45-2.15%), P=0.001, respectively]. Furthermore, the acromegalic patients had higher values for total lung mass in both inspiratory and expiratory Q-MDCT [821 (635-923) vs 696 (599-769) g, P=0.021 and 844 (650-945) vs 637 (536-736) g, P=0.009, respectively]. In inspiratory Q-MDCT, TLV showed significant correlations with all FOT parameters. The TLV of hyperaerated areas showed significant correlations with intercept resistance (rs=-0.602, P<0.001) and mean resistance (rs=-0.580, P<0.001). These data showed that acromegalic patients have increased amounts of lung tissue as well as nonaerated and poorly aerated areas. Functionally, there was a loss of homogeneity of the respiratory system. Moreover, there were correlations between the structural and functional findings of the respiratory system, consistent with the pathophysiology of the disease..The aims of this study were to evaluate the forced oscillation technique (FOT) and pulmonary densitovolumetry in acromegalic patients and to examine the correlations between these findings. In this cross-sectional study, 29 non-smoking acromegalic patients and 17 paired controls were subjected to the FOT and quantification of lung volume using multidetector computed tomography (Q-MDCT). Compared with the controls, the acromegalic patients had a higher value for resonance frequency [15.3 (10.9-19.7) vs 11.4 (9.05-17.6) Hz, P=0.023] and a lower value for mean reactance [0.32 (0.21-0.64) vs 0.49 (0.34-0.96) cm H2O/L/s2, P=0.005]. In inspiratory Q-MDCT, the acromegalic patients had higher percentages of total lung volume (TLV) for nonaerated and poorly aerated areas [0.42% (0.30-0.51%) vs 0.25% (0.20-0.32%), P=0.039 and 3.25% (2.48-3.46%) vs 1.70% (1.45-2.15%), P=0.001, respectively]. Furthermore, the acromegalic patients had higher values for total lung mass in both inspiratory and expiratory Q-MDCT [821 (635-923) vs 696 (599-769) g, P=0.021 and 844 (650-945) vs 637 (536-736) g, P=0.009, respectively]. In inspiratory Q-MDCT, TLV showed significant correlations with all FOT parameters. The TLV of hyperaerated areas showed significant correlations with intercept resistance (rs=−0.602, P<0.001) and mean resistance (rs=−0.580, P<0.001). These data showed that acromegalic patients have increased amounts of lung tissue as well as nonaerated and poorly aerated areas. Functionally, there was a loss of homogeneity of the respiratory system. Moreover, there were correlations between the structural and functional findings of the respiratory system, consistent with the pathophysiology of the disease.

Predictors of surgical outcome and early criteria of remission in acromegaly

BackgroundTranssphenoidal surgery (TSS) is the cornerstone of acromegaly treatment, however there are no robust predictors of surgical outcome and remission can only be defined three months after surgery.PurposeTo analyze if biochemical, demographical, radiological, and immunohistochemical characteristics are predictors of surgical remission and investigate if immediate postoperative GH and IGF-I levels can help defining remission earlier.MethodsConsecutive acromegaly patients submitted to TSS between 2013-2016 were evaluated. Remission criteria was defined as normal IGF-I and GH <1 mcg/L three months after surgery. Data of age, sex, GH and IGF-I levels, tumor volume, cavernous sinus invasion, T2-weighted signal, Ki-67, and granulation pattern were correlated with remission status. GH and IGF-I levels at 24, 48 h, and one week postoperative were evaluated as early criteria of remission.ResultsSixty-nine patients were included (84% macroadenomas) and surgical remission was achieved in 45%. No difference between cured and not cured patients concerning age, gender, preoperative GH or IGF-I levels, tumor volume, T2-weighted signal, Ki-67 and tumor granularity was observed. Remission was obtained in 20 of 36 (56%) of the non-invasive tumors, and in 3 of 16 (19%) of the invasive tumors (p = 0.017). A GH <1.57 mcg/L 48 h after surgery was able to predict remission with 93% sensitivity and 86% specificity and an IGF-I < 231% ULNR one week after surgery predicted remission with 86% sensitivity and 93% specificity.ConclusionCavernous sinus invasion is the only preoperative predictor of surgical remission. GH at 48 h and IGF-I one week after surgery can define earlier not cured patients.

Functional changes are associated with tracheal structural abnormalities in patients with acromegaly.

Introduction Although impaired pulmonary function and respiratory sleep disorders are described as responsible for increased mortality in acromegalic patients, little is known about the tracheal abnormalities in this group of patients. Thus, the objectives of this study were to describe the tracheal structural abnormalities and correlate these changes with the respiratory function and clinical data of acromegalic patients. Material and methods This is a cross-sectional study that was carried out at two university hospitals. Twenty acromegalic patients underwent spirometry, forced oscillation technique, and computed tomography (CT) assessments. Dyspnea and daytime sleepiness were assessed using the Modified Medical Research Council (MMRC) scale and the Epworth Sleepiness Scale (ESS), respectively. Forty matched subjects served as controls. Results The acromegalic patients exhibited larger median ratios between forced expiratory flow and forced inspiratory flow at 50% of the forced vital capacity (FEF50%/FIF50%) (2.05 vs. 1.06, p = 0.0001) compared with healthy volunteers. In the CT analysis, acromegalic patients exhibited larger median differences between their cervical and thoracic tracheal diameters (Δ tracheal diameters) (3 vs. 1 mm; p = 0.003). An association was found between FEF50%/FIF50% and the following variables: mean resistance (Rm), cervical tracheal diameter, and Δ tracheal diameters. Rm also exhibited a negative correlation with cervical tracheal diameter. Neither the MMRC scale nor the ESS exhibited any significant correlation with large airway obstruction (LAO) indices or with the measured tracheal diameters. Conclusions Acromegalic patients have tracheal structural abnormalities which are associated with functional indicators of LAO but not with clinical data.

Impact of Different Etiologies of Bronchiectasis on the Pulmonary Function Tests

Background Bronchiectasis develops along the natural course of several respiratory and systemic conditions and induces significant changes in the morphofunctional structure of airways. Our objective was to assess the impact of various causes of bronchiectasis on clinical data, pulmonary function tests, and high-resolution computed tomography (HRCT). Methods The present report was a cross-sectional study that was conducted with 112 consecutive patients with bronchiectasis, who were allocated to five groups, as follows: sequelae of tuberculosis, history of non-tuberculosis infection, cystic fibrosis (CF), primary ciliary dyskinesia (PCD), and rheumatoid arthritis. All of the participants underwent spirometry, whole-body plethysmography, measurement of the diffusing capacity for carbon monoxide (DLco), and HRCT. Results The highest HRCT score was exhibited in patients with CF (6.03±1.03). The values of forced expiratory volume in 1 second (FEV1) (52.2±17.7%) and DLco (74.1±15.2%) were lower in patients with sequelae of tuberculosis. The increase in the residual volume was more accentuated in the patients with CF (193.5 ± 39.5%) and PCD (189 ± 36.4%). By the multivariate analysis, the cause of FEV1 and bronchiectasis, HRCT score, and degree of dyspnea behaved as independent predictors of DLco. Conclusion In individuals with bronchiectasis, the pulmonary function abnormalities are associated with the etiology of the underlying disease.

CT pulmonary densitovolumetry in patients with acromegaly: a comparison between active disease and controlled disease

OBJECTIVE Our purpose was to compare the findings of CT pulmonary densitovolumetry and pulmonary function in patients with active acromegaly and controlled acromegaly and, secondarily, to correlate these findings. METHODS 11 patients with active acromegaly, 18 patients with controlled acromegaly and 17 control subjects, all non-smokers, underwent quantification of lung volume using multidetector CT (Q-MDCT) and pulmonary function tests. RESULTS Patients with active acromegaly had larger total lung mass (TLM) values than the controls and larger amounts of non-aerated compartments than the other two groups. Patients with active acromegaly also had larger amounts of poorly aerated compartments than the other two groups, a difference that was observed in both total lung volume (TLV) and TLM. TLV as measured by inspiratory Q-MDCT correlated significantly with total lung capacity, whereas TLV measured using expiratory Q-MDCT correlated significantly with functional residual capacity. CONCLUSION Patients with active acromegaly have more lung mass and larger amounts of non-aerated and poorly aerated compartments. There is a relationship between the findings of CT pulmonary densitovolumetry and pulmonary function test parameters. ADVANCES IN KNOWLEDGE Although the nature of our results demands further investigation, our data suggest that both CT pulmonary densitovolumetry and pulmonary function tests can be used as useful tools for patients with acromegaly by assisting in the prediction of disease activity.

Burkitt Lymphoma with Initial Clinical Presentation due to Infiltration of the Central Nervous System and Eye Orbits

Patient: Male, 17 Final Diagnosis: Burkitt lymphoma Symptoms: Anisocoria, ipsilateral ptosis, opthalmoparesis, paresis Medication: — Clinical Procedure: — Specialty: Oncology Objective: Unusual clinical course Background: Burkitt lymphoma rarely affects the central nervous system and ocular region. Under these conditions, computed tomography and (particularly) magnetic resonance imaging of the skull increase the diagnostic accuracy, as they objectively show the topography of lesions and the effect of neoplasia on structures. Case Report: We report here the case of a 17-year-old male whose initial clinical manifestations were related to neurological impairment and to the ocular musculature and ocular innervation. The diagnosis of Burkitt lymphoma with leukemization and infiltration of the central nervous system was confirmed. Conclusions: In this case, it is important to recognize that the neuroimaging findings were fundamentally important in indicating the initial form of the disease and in directing the appropriate clinical management.

Computed tomography airway lumen volumetry in patients with acromegaly: Association with growth hormone levels and lung function

The segmentation and skeletonisation of images via computed tomography (CT) airway lumen volumetry provide a new perspective regarding the incorporation of this technique in medical practice. Our aim was to quantify morphological changes in the large airways of patients with acromegaly through CT and, secondarily, to correlate these findings with hormone levels and pulmonary function testing (PFT) parameters.

Relationships between the pulmonary densitometry values obtained by CT and the forced oscillation technique parameters in patients with silicosis

OBJECTIVE To evaluate the correlations between pulmonary densitometry values and forced oscillation technique (FOT) parameters in patients with silicosis. METHODS This cross-sectional study comprised 36 non-smoker patients with silicosis and 20 matched control subjects who were submitted to FOT and multidetector CT (MDCT). RESULTS Compared with the control subjects, the MDCT evaluation demonstrated that patients with silicosis exhibited greater total lung mass. These patients also had larger non-aerated and poorly aerated compartments, which included nodules and scarring. Compared with the control subjects, FOT evaluation demonstrated that patients with silicosis exhibited changes in both reactive and resistive properties of the respiratory system. In these patients, there was a greater heterogeneity of the respiratory system and increased work of breathing. Significant correlations between non-aerated compartment size and FOT parameters that reflect the non-homogeneity of the respiratory system were observed. The dynamic compliance of the respiratory system was negatively correlated with non-aerated compartment size, while the impedance at 4 Hz was positively correlated with non-aerated compartment size. CONCLUSION Patients with silicosis have heavier lungs. In these patients, a larger non-aerated compartment is associated with a worsening of lung function. A more significant pulmonary involvement is associated with a loss of homogeneity and increased mechanical load of the respiratory system. Advances in knowledge The findings provided by both pulmonary densitometry and FOT may add valuable information to the subjective analysis of silicosis; however, more studies are necessary to evaluate the potential use of these methods for assessing disease progression.