Gamma Knife radiosurgery for the management of glomus jugulare tumors: A systematic review and report of the experience of a radioneurosurgery unit in Latin America.

Background: Glomus jugulare tumors (GJTs) are rare and mainly affect women between the 5th and 6th decades of life. Its localization and anatomic relationships make conventional surgical treatment difficult and with a considerable risk of complications. This manuscript aims to describe the results of Gamma Knife radiosurgery (GKR) in patients with GJT treated in a single center in Latin America, as well as to systematically review the literature to determine the clinical and radiological effectiveness of this technique. Methods: A search of information from January 1995 to June 2023 was performed. Twenty-two articles reporting 721 GJT patients treated with GKR were included in the study. Variables such as symptomatic control, control of tumor size, and complications were evaluated. These variables were described using measures of central tendency and proportions. For the institutional experience, 77 patients with GJT tumors were included in the study. Pre-treatment clinical variables and follow-up data were collected from medical charts and phone interviews. The Short Form-36 scale was applied to assess the quality of life. The data were analyzed using the statistical program STATA17.0. Results: A total of 721 patients were considered. The median of patients included in these studies was 18.5. The mean age was 58.4 years. The median of symptom control was 89%, and the median of imaging control was 95.7%. In our institution, 77 patients were included in the study. The mean age was 53.2 years. The median hospital stay was 4.92 hours. For the clinical follow-up, information on 47 patients was obtained. An improvement in pre-treatment symptoms was described in 58%, with general symptomatic control of 97%. The tumor-control rate was 95%, and there were statistically significant differences in six of the nine Short Form-36 scale domains. Conclusion: GKR is an effective, safe, and cost-effective technique that offers a high degree of symptomatic and tumor size control in patients with GJT.

Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome.

OBJECTIVE: To describe the clinical characteristics and outcomes in patients with refractory myasthenia gravis (MG) and to determine the effectiveness and side effects of the drugs used for their treatment. METHODS: This observational retrospective cross-sectional multicenter study was based on data from the Spanish MG Registry (NMD-ES). Patients were considered refractory when their MG Foundation of America post-interventional status (MGFA-PIS) was unchanged or worse after corticosteroids and two or more other immunosuppressive agents. Clinical and immunologic characteristics of drug-refractory patients, efficiency and toxicity of drugs used, and outcome (MGFA-PIS) at end of follow-up were studied. RESULTS: We included 990 patients from 15 hospitals. Eighty-four patients (68 of 842 anti-acetylcholine receptor [AChR], 5 of 26 anti-muscle-specific tyrosine kinase [MusK], 10 of 120 seronegative, and 1 of 2 double-seropositive patients) were drug refractory. Drug-refractory patients were more frequently women (p < 0.0001), younger at onset (p < 0.0001), and anti-MuSK positive (p = 0.037). Moreover, they more frequently presented a generalized form of the disease, bulbar symptoms, and life-threatening events (p < 0.0001; p = 0.018; and p = 0.002, respectively) than non-drug-refractory patients. Mean follow-up was 9.8 years (SD 4.5). Twenty-four (50%) refractory patients had side effects to one or more of the drugs. At the end of follow-up, 42.9% of drug-refractory patients (42.6% of anti-AChR, 100% of anti-MuSK, and 10% of seronegative patients) and 79.8% of non-drug-refractory patients (p < 0.0001) achieved remission or had minimal manifestations. Eighty percent of drug-refractory-seronegative patients did not respond to any drug tested. INTERPRETATION: In this study, 8.5% of MG patients were drug-refractory. New more specific drugs are needed to treat drug-refractory MG patients.

Gamma Knife radiosurgery - 12 years of experience in a high-complexity center of a middle-income country.

Background: Gamma Knife radiosurgery (GKR) is a technique that consists of the release of a high dose of ionizing radiation onto a therapeutic target, which has been previously delimited. This technique was described by Lars Leksell and Borje Larsson in 1951. In Colombia, there is only one GKR unit functioning machine nowadays. The objective of this study is to describe the institutional experience of a single institution with Gamma Knife Perfexion over 12 years. Methods: We conducted a retrospective observational study. A total of 1906 medical records, taken from the period between May 4, 2010, and May 4, 2022, were included in the study. Descriptive analysis was performed through STATA 17 as statistic tool. Measures of central tendency were calculated depending on the distribution of the continuous data and proportions were taken into account in the case of qualitative variables. Results: A total of 1906 procedures were performed. Patients from 1 year to 99 years old were treated, with a median age of 51 years. The most frequent diagnoses were meningioma (20.8%), arteriovenous malformation (AVM) (17%), vestibular schwannoma (15.6%), metastases (9.81%), and trigeminal neuralgia (9.12%). At 3-year posttreatment, in meningiomas, tumor size stability was observed in 57.3%, size decrease in 36%, and disappearance in 1.3%. In AVM, complete obliteration of the lesion was described in 36.8% and a decrease in size in 52.6%. Intracranial hemorrhage occurred in 5.2% during the follow-up period and 3.5% of all treated patients required a new procedure due to residual malformation. In vestibular schwannomas, tumor size remained stable in 62.2% and decreased in 28.8%. No new cases of facial paralysis after the procedure were described. At 1-year posttreatment, in metastasis, the size of the lesions remained stable in 40% of the patients, decreased in 47.5%, and disappeared in 2.5%. In trigeminal neuralgia, 88.4% of patients had pain relief and recurrences occurred in 16.6%. Acute complications were generally uncommon, the main ones being headache, pain at frame fixation points, and nausea. Conclusion: Our experience suggests that GKR is a noninvasive procedure with a broad spectrum of clinical applications, low frequency of complications, feasible, with good enough control size of tumor and vascular lesions in images, and good clinical results in the medium and long term.

Clinical characteristics and outcomes of thymoma-associated myasthenia gravis.

BACKGROUND AND PURPOSE: Prognosis of myasthenia gravis (MG) in patients with thymoma is not well established. Moreover, it is not clear whether thymoma recurrence or unresectable lesions entail a worse prognosis of MG. METHODS: This multicenter study was based on data from a Spanish neurologist-driven MG registry. All patients were aged >18 years at onset and had anti-acetylcholine receptor antibodies. We compared the clinical data of thymomatous and nonthymomatous patients. Prognosis of patients with recurrent or nonresectable thymomas was assessed. RESULTS: We included 964 patients from 15 hospitals; 148 (15.4%) had thymoma-associated MG. Median follow-up time was 4.6 years. At onset, thymoma-associated MG patients were younger (52.0 vs. 60.4 years, p < 0.001), had more generalized symptoms (odds ratio [OR]: 3.02, 95% confidence interval [CI]: 1.95-4.68, p < 0.001) and more severe clinical forms according to the Myasthenia Gravis Foundation of America (MGFA) scale (OR: 1.6, 95% CI: 1.15-2.21, p = 0.005). Disease severity based on MGFA postintervention status (MGFA-PIS) was higher in thymomatous patients at 1 year, 5 years, and the end of follow-up. Treatment refractoriness and mortality were also higher (OR: 2.28, 95% CI: 1.43-3.63, p = 0.001; hazard ratio: 2.46, 95% CI: 1.47-4.14, p = 0.001). Myasthenic symptoms worsened in 13 of 27 patients with recurrences, but differences in long-term severity were not significant. Fifteen thymomatous patients had nonresectable thymomas with worse MGFA-PIS and higher mortality at the end of follow-up. CONCLUSIONS: Thymoma-associated MG patients had more severe myasthenic symptoms and worse prognosis. Thymoma recurrence was frequently associated with transient worsening of MG, but long-term prognosis did not differ from nonrecurrent thymoma. Patients with nonresectable thymoma tended to present severe forms of MG.

Clinical and therapeutic features of myasthenia gravis in adults based on age at onset.

OBJECTIVE: To describe the characteristics of patients with very-late-onset myasthenia gravis (MG). METHODS: This observational cross-sectional multicenter study was based on information in the neurologist-driven Spanish Registry of Neuromuscular Diseases (NMD-ES). All patients were >18 years of age at onset of MG and onset occurred between 2000 and 2016 in all cases. Patients were classified into 3 age subgroups: early-onset MG (age at onset <50 years), late-onset MG (onset ≥50 and <65 years), and very-late-onset MG (onset ≥65 years). Demographic, immunologic, clinical, and therapeutic data were reviewed. RESULTS: A total of 939 patients from 15 hospitals were included: 288 (30.7%) had early-onset MG, 227 (24.2%) late-onset MG, and 424 (45.2%) very-late-onset MG. The mean follow-up was 9.1 years (SD 4.3). Patients with late onset and very late onset were more frequently men (p < 0.0001). Compared to the early-onset and late-onset groups, in the very-late-onset group, the presence of anti-acetylcholine receptor (anti-AChR) antibodies (p < 0.0001) was higher and fewer patients had thymoma (p < 0.0001). Late-onset MG and very-late-onset MG groups more frequently had ocular MG, both at onset (<0.0001) and at maximal worsening (p = 0.001). Although the very-late-onset group presented more life-threatening events (Myasthenia Gravis Foundation of America IVB and V) at onset (p = 0.002), they required fewer drugs (p < 0.0001) and were less frequently drug-refractory (p < 0.0001). CONCLUSIONS: Patients with MG are primarily ≥65 years of age with anti-AChR antibodies and no thymoma. Although patients with very-late-onset MG may present life-threatening events at onset, they achieve a good outcome with fewer immunosuppressants when diagnosed and treated properly.

Inflammatory myopathy in the context of an unusual overlapping laminopathy

Summary Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery-Dreifuss muscular dystrophy [EDMD2], type 1B limb-girdle muscular dystrophy [LGMD1B], and dilated cardiomyopathy), nerves (type 2B1 Charcot-Marie-Tooth disease), and premature aging syndromes. Moreover, overlapping syndromes have been reported. This study aimed to determine the genetic basis of an overlapping syndrome in a patient with heart disease, myopathy, and features of lipodystrophy, combined with severe metabolic syndrome. We evaluated a 54-year-old woman with rheumatoid arthritis, chronic hypercortisolism (endogenous and exogenous), and a history of cured adrenal Cushing syndrome. The patient presented with a complex disorder, including metabolic syndrome associated with mild partial lipodystrophy (Köbberling-like); mild hypertrophic cardiomyopathy, with Wolff-Parkinson- White syndrome and atrial fibrillation; and limb-girdle inflammatory myopathy. Mutational analysis of the LMNA gene showed a heterozygous c.1634G>A (p.R545H) variant in exon 10 of LMNA. This variant has previously been independently associated with FPLD2, EDMD2, LGMD1B, and heart disease. We describe a new, LMNA-associated, complex overlapping syndrome in which fat, muscle, and cardiac disturbances are related to a p.R545H variant.

Abordaje temporopolar para la cirugía de aneurismas intracraneales de la circulación posterior: Informe de 2 casos / Temporopolar approach to intracraneal aneurysms surgery of the posterior circulation: to cases report

Los aneurismas intracraneales de la circulación posterior representan un reto para la neurocirugía contemporánea y para la neurorradiología intervencionista, debido a la complejidad anatómica de su topografía que predispone a la aparición de complicaciones. La oclusión endovascular representa la opción más acertada para el tratamiento de estas lesiones, pero al no existir una cobertura adecuada para todos los pacientes, la microcirugía representa una alternativa para el manejo de los pacientes con esta compleja enfermedad. En el presente trabajo se presentan dos casos intervenidos quirúrgicamente, uno con un aneurisma del tope de la basilar y otro con uno de la arteria cerebelosa superior izquierda, en los que se utilizó un abordaje temporopolar descrito por Sano, con resultados satisfactorios. Se concluye que este abordaje representa una alternativa adecuada al resto de las técnicas usadas para el tratamiento quirúrgico de estas lesiones

Intracranial aneurysms of the posterior circulation represent a challenge for contemporary neurosurgery and interventional neuroradiological procedures due to the anatomical complexity of its topography that predispose on the occurrence of complications. The endovascular occlusion represents the best option for the treatment of these injuries, but at not existing a coverage suitable for all patients, microsurgery continues representing an alternative for the management of patients with this complex disease. In this paper we present two cases operated, one with a basilar tip aneurysms and another one in the left superior cerebellar artery in which a temporopolar approach described by healthy, with successful results was used. We conclude that this approach represents an alternative to the rest of the techniques used for the surgical treatment of these injuries

Mucocele orbitario: informe de caso / Orbital mucocele: a case report

Se presenta un paciente en el cual, secundario a un trauma craneoencefálico ligero, presentó una lesión ocupativa del espacio orbital derecho, la cual le provocaba proptosis, dolor, compromiso de la agudeza visual, incapacidad de realizar los movimientos oculares y alteraciones cosméticas. Se le realizaron estudios de imágenes, los cuales brindaron valiosos datos para la planificación quirúrgica, la cual se realizó con resultados favorables; el estudio histológico confirmó un mucocele.

It is presented a case which secondary to a slight cranioencephalic trauma began with occupying injury of right orbital space which caused him proptosis, pain, commitment of visual acuity, incapacity to make the ocular movements and cosmetic alterations, imaging studies were carried out which provided valuable data for surgical planning that it was carried out with favourable results, a mucocele was confirmed by a histology study.

[Hepatopulmonary syndrome in a patient with adenocarcinoma of the colon metastatic to the liver and no apparent chronic liver disease]. / Síndrome hepatopulmonar en paciente con adenocarcinoma de colon con metástasis hepáticas y sin hepatopatía crónica conocida.

Hepatopulmonary syndrome consists of a clinical triad: arterial blood deoxygenation, intrapulmonary vasodilation, and liver disease. Both acute and chronic cases of this syndrome have been reported, and the most common cause is cirrhosis. The principle disease mechanism is dilation of the pulmonary blood vessels causing alterations in gas exchange. Increased pulmonary production of nitric acid has been implicated as the primary pathogenic mechanism of vasodilation although it has also been associated with imbalance between vasodilators and vasoconstrictors. We describe the case of a patient with hepatopulmonary syndrome and adenocarcinoma of the colon with metastases to a previously healthy liver.

Hemoptysis as an unusual manifestation of right atrial myxoma.

Atrial myxoma is the most frequent tumor of the heart, though right-side locations and initial clinical manifestation in the form of hemoptysis are infrequent. We describe the case of a young woman with right atrial myxoma diagnosed by transthoracic echocardiography and presenting hemoptysis as the most important manifestation. The symptomatology disappeared after surgical removal of the lesion.

El aporte de la cirugía bariátrica en el tratamiento del síndrome de Pickwick / Contribution of bariatric surgery in the treatment of Pickwick syndrome

El conjunto de alteraciones respiratorias que sufren los obesos mórbidos y que llevan a la hipoxemia e hipercapnia crónica, con poliglobulia compensatoria y falla cardíaca derecha secundaria es conocida desde hace tiempo como Síndrome de Pickwick. Su tratamiento médico es complejo y poco efectivo, siendo en la actualidad la cirugía bariátrica la que mejores resultados obtiene. En una serie de seis pacientes, con este cuadro, operados desde 1980 por el autor principal, sus resultados han sido muy satisfactorios al corregir rápida y efectivamente las graves alteraciones respiratorias presentes, corroborando lo descrito por la literatura mundial

Angiomixomas / Angiomyxoma

Se presenta caso clínico de un angiomiofibroblastoma vulvar, diagnosticado por histología. Se comenta frecuencia, etiopatogenia, diagnóstico y tratamiento

Carcinoma epidermoide en divertículo de Zencker / Squamous cell carcinoma in Zencker's diverticulum

La irritación crónica de la mucosa de los divertículos faringoesfágicos puede conducir a la displasia y a la degeneración neoplásica pero es un hecho raro de ver. Se presenta el caso de un paciente de 62 años con un divertículo de Zencker con cuatro años de sintomalogía al que en el estudio se le detecta un carcinoma epidermoide del fondo. Fue operado mediante una simple diverticulectomía, encontrándose una lesión intramural pequeña y sin adenopatías (estadio IIA) de bajo grado (G2)

Experiencia en cirugía resectiva del cáncer esofágico / Experience in surgical resection of esophageal cancer

El objeto del presente trabajo es analizar la experiencia en cirugía resectiva del cáncer del esófago comparándola con nuestra experiencia anterior y con la de otros centros nacionales y extranjeros. Entre 1986 y 1995 operamos 138 pacientes con cáncer esofágico; 48,5 porciento de ellos se resecaron, la mitad con intención curativa. El 94,1 porciento fueron epidermoides y sólo 1,5 porciento resultaron adenocarcinomas. El 32 porciento de los resecados recibió radioterapia coadyuvante. La mortalidad operatoria global fue de 19,3 porciento. La morbilidad postoperatoria fue de 46,6 porciento, siendo grave en la mitad de los casos. Hubo un 21,5 porciento de fístulas. La sobrevida promedio global, incluyendo mortalidad operatoria, fue de 18,2 meses con 24,2 meses para resecciones curativas y 10,2 meses para las paliativas. La sobrevida promedio también fue mejor en los que tenían linfonodos negativos, y en los que recibieron radioterapia. Los 7 pacientes con lesiones incipientes están vivos sin enfermedad entre 8 y 63 meses

Cirugía más radioterapia pre y postoperatoria en el tratamiento del cáncer esofágico intratorácico / Surgery plus radiotherapy pre and postoperatory in the treatment of intrathoracic esophageal cancer

La asociación de cirugía y radioterapia es una alternativa terapéutica en el cáncer esofágico. Se presenta un protocolo de selección y tratamiento con cirugía y radioterapia pre y postoperatoria en pacientes con cáncer esofágico aplicado en forma prospectiva desde 1982. Se analiza las características clínicas y resultados postoperatorios inmediatos y a cinco años plazo. Veintidós de setenta y ocho pacientes cumplieron con los requisitos de protocolo (28,2%). Dieciocho fueron intervenidos con un 88,8% de resecabilidad, 18,7% de mortalidad operatoria y 38,7% de sobrevida a cinco años. Se concluye que este protocolo es factible si se logra una buena coordinación entre los Servicios de Cirugía y Radioterapia, permite una excelente selección de los pacientes susceptibles de ser resecados y logra una buena sobrevida a cinco años plazo con una mortalidad operatoria aceptable

Tratamiento quirúrgico de la estenosis traqueal secundaria a intubación prolongada: experiencia en dos casos operados con la técnica de grillo con control alejado / Tracheal stenosis treated by extensive resection: 2 cases with long follow up

A proposito de dos casos de pacientes con estenosis cicatricial extensos de la tráquea por intubación prolongada, se revisa la etiopatogenia de esta lesión y los avances existentes para prevenir su aparición. Se comenta los buenos resultados obtenidos con la reparación por resección amplia y la anastomosis término-terminal con material reabsorbible lento, según técnica descrita por Grillo