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PURPOSE: Treatment of hyperthyroidism caused by autonomously functioning thyroid nodules (AFTN) with 131I often leads to undesirable hypothyroidism. Radiofrequency ablation (RFA) has emerged as a promising alternative. This retrospective analysis aimed to examine the efficacy of, and postprocedural hypothyroidism after, RFA for AFTN. METHODS: Patients with hyperthyroidism caused by AFTN and treated with RFA were included if follow-up of at least 1 year was available. Cure was defined as thyroid medication-free biochemical euthyroidism. To predict cure, patient and treatment factors were analysed. A distinction was made between solitary toxic adenoma (STA) and toxic multinodular goitre (TMG). RESULTS: Forty-eight patients (36 STA, 12 TMG) were included. One year post-RFA cure rate was 72% in STA versus 25% in TMG (p = 0.004). One patient developed hypothyroidism. In 11 patients that remained hyperthyroid, a second RFA was successful in 83% of STA and 40% of TMG patients. At last available follow-up, this amounted to a total cure rate of 81% in STA and 33% in TMG (p = 0.002). In STA, cured patients had a higher baseline TSH and a lower FT3 than non-cured patients (p = 0.026 and 0.031). Cure was observed in 91% of patients when > 2.1 kJ/mL was delivered during RFA, compared to 44% when less energy was administered. CONCLUSION: The efficacy of RFA was nearly 3 times higher in STA patients compared to TMG. Severity of hyperthyroidism and kJ/mL delivered during RFA predicts cure. Direct comparison to the current standard of care is needed to implement RFA in treatment of hyperthyroidism caused by AFTN.
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Objective: Radiofrequency ablation (RFA) is increasingly considered the prime option for treating symptomatic, benign, non-functioning thyroid nodules (NFTN). However, little is known about the degree of operator experience required to achieve optimal results. This study describes the RFA learning curve of a single-center team. Methods: A retrospective cohort study of the first 103 patients receiving RFA treatment for a single, symptomatic, and benign NFTN, with a follow-up of at least 1 year. The primary outcome measure was technique efficacy, defined as the percentage of patients with a 6-month nodal volume reduction ratio (VRR) >50% after single-session RFA. Optimal treatment efficacy was defined as a 6-month VRR >50% achieved in at least 75% of patients. Secondary outcomes were complications of RFA and indications of secondary interventions. Results: Median nodal volume at baseline was 12.0 mL (range 2.0-58.0 mL). A 6-month VRR >50% was achieved in 45% of the first 20 patients, 75% of the next 20, and 79% of the following 63 patients. Complications included minor bleeding (N = 4), transient hyperthyroidism (N = 4), and transient loss of voice (N = 1). Poor volume reduction or nodular regrowth led to diagnostic lobectomy in 11 patients and a second RFA in 5. Lobectomy revealed a follicular carcinoma (T2N0M0) in 2 patients. In 1 patient, nodule regrowth was caused by an intranodular solitary B-cell lymphoma. Conclusion: About 40 procedures are required to achieve a 6-month VRR >50% in the majority of patients. Appropriate follow-up with re-evaluation is recommended for all patients with a VRR <50% and in those with regrowth to exclude underlying malignancy.
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BACKGROUND: Recently, a new model has been proposed to assess hydration in patients by measurement of total body electrical resistance (TBER), with results expressed in ohm rather than in liter body water. According to this approach, hydration is considered to be normal if TBER is within the normal range. As TBER is inversely related to the size of the limb muscle compartment, this relationship can be used to calculate the patient-specific TBER normal value (TBERnorm). The present study investigates whether the prediction of TBERnorm can be improved by the use of ultrasound (US) instead of anthropometrically derived parameters of limb muscularity. METHODS: In total, 129 healthy subjects (60 men and 69 women) ranging in age from 18 to 75 yr, and in BMI from 17.4 to 52.0 kg/m2 were included in the study. Arm muscle cross-sectional area assessed by anthropometry (AMAcaliper) was compared with mean muscle thickness (MMT) of arm and leg assessed by B-mode US. RESULTS: MMT correlated stronger with TBER than AMA, and reduced the standard error of the estimate (SEE) by 15% in men and by 26% in women. Muscularity was overestimated by AMAcaliper due to a systematic error directly proportional to subcutaneous fat layer thickness. The gender independent relation between MMT and TBERnorm is described by the equation: TBERnorm = 705-75.4â MMT (R2 = 0.85, SEE = 22.3 Ω/m, P < 0.001). CONCLUSIONS: US-based measurement of limb muscularity provides a more precise prediction of TBERnorm, in particular in obese subjects, and is recommended as the method of choice.
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Agua Corporal , Músculo Esquelético , Antropometría , Composición Corporal , Índice de Masa Corporal , Impedancia Eléctrica , Femenino , Humanos , Masculino , Músculo Esquelético/diagnóstico por imagen , Valores de Referencia , Grosor de los Pliegues Cutáneos , UltrasonografíaRESUMEN
BACKGROUND AND AIMS: To prospectively examine the feasibility and accuracy of Contrast Enhanced Ultrasound (CEUS) in the assessment of Crohn's disease (CD) activity in the terminal ileum in comparison to Magnetic Resonance Enterography (MRE), using endoscopy as a reference standard. METHODS: 105 consecutive patients with alleged clinically active CD were assessed by MRE and CEUS. CEUS of the terminal ileum was performed using an intravenous microbubble contrast enhancer. Accuracy values of CEUS and MRE for the presence of active terminal ileitis were evaluated using the Receiver Operating Characteristic method, using endoscopic findings as a reference standard. Sensitivity and specificity values of MRE and CEUS were compared by the McNemar test. RESULTS: CEUS was feasible in 98% of patients, MRE in all. Optimal diagnostic accuracy in CEUS was obtained at a peak intensity value of 10%, showing 100% sensitivity, 92% specificity and an accuracy of 99% in demonstrating ileal mucosal inflammation. For MRE, overall sensitivity, specificity and accuracy were, 87%, 100%, and 88%, respectively. CEUS and MRE were highly correlated in assessing length and wall thickness of the terminal ileum. CEUS identified 11 of 16 MRE-detected strictures, but no fistulae. CONCLUSION: The accuracy of CEUS is comparable to that of MRE in the assessment of active, uncomplicated terminal ileal CD and therefore a valuable bedside alternative to MRE in the follow-up of these patients.
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Abdomen/diagnóstico por imagen , Abdomen/patología , Enfermedad de Crohn/diagnóstico , Enfermedad de Crohn/patología , Íleon/patología , Inflamación/patología , Adolescente , Adulto , Anciano , Medios de Contraste/administración & dosificación , Endosonografía/métodos , Femenino , Humanos , Mucosa Intestinal/patología , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Curva ROC , Sensibilidad y Especificidad , Adulto JovenRESUMEN
OBJECTIVE: Description of two siblings with unexplained, progressive, perceptive hearing loss after head trauma. DESIGN: Case report. SUBJECTS: Two siblings aged six and eight years old with bilateral, intermittent but progressive hearing loss. RESULTS: These patients had a c.1172G>A (p.Ser391Asn) mutation in the SLC26A4 gene, which has not previously been reported and which caused Pendred or enlarged vestibular aqueduct syndrome. The diagnosis was based on the perceptive hearing loss, computed tomography findings and mutation analysis. The patients were each fitted with a cochlear implant because of their severe, progressive, perceptive hearing loss with deep fluctuations. The results were good. CONCLUSION: Further testing for the presence of an enlarged vestibular aqueduct is recommended when children present with sudden progression in perceptive hearing loss, whether or not in combination with head trauma. Cochlear implantation is indicated in patients with persistent, progressive hearing loss that leads to deafness. Implantation can be undertaken successfully despite cochlear hypoplasia.
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Implantación Coclear , Traumatismos Craneocerebrales/complicaciones , Pérdida Auditiva Sensorineural/etiología , Niño , Análisis Mutacional de ADN , Femenino , Pérdida Auditiva Sensorineural/cirugía , Humanos , Proteínas de Transporte de Membrana/genética , Mutación Missense , Transportadores de Sulfato , Síndrome , Tomografía Computarizada por Rayos XRESUMEN
Dysphagia is not considered a symptom of facioscapulohumeral muscular dystrophy (FSHD). In this study, the authors found that dysphagia does occur in patients with advanced FSHD showing mild involvement of the jaw and lingual muscles. Dysphagia is seldom life threatening in these patients. The authors conclude that dysphagia should not be considered an exclusion criterion for FSHD.
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Trastornos de Deglución/diagnóstico , Trastornos de Deglución/etiología , Distrofia Muscular Facioescapulohumeral/complicaciones , Distrofia Muscular Facioescapulohumeral/diagnóstico , Adulto , Femenino , Humanos , Masculino , Persona de Mediana EdadAsunto(s)
Sordera/genética , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Pérdida Auditiva Conductiva/genética , Pérdida Auditiva Sensorineural/genética , Estribo/anomalías , Audiometría , Umbral Auditivo , Conducción Ósea , Sordera/congénito , Sordera/diagnóstico , Sordera/patología , Oído Interno/patología , Pérdida Auditiva Conductiva/diagnóstico , Pérdida Auditiva Sensorineural/diagnóstico , Humanos , Linaje , Cirugía del Estribo/efectos adversosAsunto(s)
Síndrome Branquio Oto Renal , Pérdida Auditiva/genética , Síndrome Branquio Oto Renal/genética , Síndrome Branquio Oto Renal/patología , Oído Interno/anomalías , Oído Medio/anomalías , Pérdida Auditiva/patología , Humanos , Péptidos y Proteínas de Señalización Intracelular , Riñón/anomalías , Proteínas Nucleares , Linaje , Proteínas Tirosina Fosfatasas , Transactivadores/genéticaRESUMEN
OBJECTIVE: To describe the new L95P mutation of the paraganglioma 1 gene for glomus tumors in a Dutch paraganglioma 1 family with six affected family members and to report the clinical findings and results of treatment in nine glomus tumors with a maximum follow-up of 34 years. SETTING: Tertiary referral centers. RESULTS: Mutation analysis of the SDHD gene of paraganglioma 1 showed the L95P mutation in six affected family members and two nonaffected carriers protected from becoming affected by genomic imprinting. In six affected family members, nine glomus tumors (five glomus caroticum tumors, two glomus vagale tumors, and two glomus jugulare tumors) were traced. The ages at presentation varied from 25 to 61 years. In two of six affected family members with a total of four tumors, all the tumors were traced in the extended family study, using magnetic resonance imaging; at that time these tumors were silent. After radiotherapy in one patient at the age of 34 years, a T4 planocellular carcinoma of the tongue occurred within the previous radiation field 27 years later, when the patient was 61 years old. Volume measurements of three untreated glomus tumors (two glomus vagale tumors, one glomus caroticum tumor) during 25 months showed an increase in two tumors (left glomus caroticum, left glomus vagale tumor) and a decrease in one tumor (right glomus vagale tumor). Surgery to remove two bilateral and one unilateral glomus caroticum tumors was successful. A wait-and-see policy is being applied to two glomus vagale tumors. CONCLUSIONS: In family members of paraganglioma 1 patients, mutation analysis can be used to make an early diagnosis of glomus tumors. Radiotherapy may have induced a carcinoma. Modalities of treatment can include a wait-and-see policy. Long-term follow-up studies on the natural course of glomus tumors are needed to improve decisions about treatment modalities.