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Resumen Se presenta el caso clínico de una paciente del sexo femenino, de 30 años, con adenopatías supraclaviculares y axilares ipsilaterales, quien fue sometida a biopsia excisional con posterior estudio. El análisis histopatológico de la muestra de tejido resecado reveló una serie de características distintivas asociadas con la enfermedad de Castleman variante hialinovascular. La presentación de este caso no solo proporciona información detallada sobre la evolución clínica de la paciente, sino que también sirve como base para ilustrar los aspectos clave del diagnóstico histopatológico y las implicaciones inmunohistoquímicas en la enfermedad de Castleman. Además de hacer una revisión de tema respecto a esta patología poco común, en la cual los informes de casos son fundamentales para aumentar la comprensión de su variabilidad clínica y su abordaje diagnóstico, ilustrando los desafíos en el diagnóstico diferencial y como deben abordarse los mismos.
Abstract The clinical case of a 30-year-old female patient with supraclavicular and ipsilateral axillary lymphadenopathy who underwent excisional biopsy with subsequent study is presented. Histopathological analysis of the resected tissue sample revealed a series of distinctive features associated with hyalinevascular variant Castleman disease. The presentation of this case not only provides detailed information about the clinical evolution of the patient, but also serves as a basis to illustrate Key aspects of histopathological diagnosis and immunohistochemical implications in Castleman disease. In addition to making a review of the topic regarding this rare pathology in which case reports are essential to increase the understanding of its clinical variability and its diagnostic approach, illustrating the challenges in differential diagnosis and how they should be addressed.
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OBJECTIVE: To determine the efficacy and tolerance of cryotherapy in a visual inspection with acetic acid (VIA) triage protocol after primary human papillomavirus (HPV) screening in a low-resource setting. MATERIALS AND METHODS: This continuous series conducted over 2 years enrolled nonpregnant, high-risk HPV (HR-HPV)-positive women between the ages of 30 and 50 years, who resided in the state of Michoacán, Mexico, and had a history of no Pap smear screening or knowledge of Pap smear results within the last 3 years. These women were initially enrolled in the Mexican Cervical Cancer Screening Study II (MECCS II) trial and were treated with cryotherapy after VIA triage. They subsequently followed up at 6 months and 2 years for repeat VIA, colposcopy, and biopsy. RESULTS: A total of 291 women were treated with cryotherapy, of whom 226 (78%) followed up at 6 months. Of these 226 women, 153 (68%) were HR-HPV-negative; there were no findings of cervical intraepithelial neoplasia grade 2 (CIN2) or worse. The remaining 73 women (32%) were HR-HPV-positive; of these women, 2 had CIN2 and 3 had CIN3. Only 137 women followed up at 2 years. Of these 137 women, 116 were HR-HPV-negative and 21 were HR-HPV-positive. Of the 21 women positive for HR-HPV, 9 had negative biopsy results, 11 had CIN1, and 1 had no biopsy. The clearance rate of HR-HPV was 83% (95% confidence interval: 0.78-0.87). There were no biopsy findings of CIN2 or worse at 2 years. Before cryotherapy, of the 226 women, 15 (6.6%) were positive for endocervical curettage (ECC) and 5 (2.2%) were referred for surgical management. Of these 15 ECC-positive women, 10 (67%) followed up at 6 months and it was shown that no patient was ECC positive at that time point. Moreover, of the 15 ECC-positive women, 11 (73%) followed up at 2 years and it was shown that no patient was ECC positive at that time point. In our study, VIA had a false-positive rate of 5%. CONCLUSIONS: Cryotherapy was an effective, acceptable, and well-tolerated means of treating cervical dysplasia in a low-resource setting.
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Crioterapia/métodos , Infecções por Papillomavirus/complicações , Neoplasias do Colo do Útero/terapia , Adulto , Biópsia , Colposcopia , Crioterapia/efeitos adversos , Feminino , Seguimentos , Histocitoquímica , Humanos , México , Pessoa de Meia-Idade , Resultado do TratamentoRESUMO
Pompe disease (PD) is a recessive metabolic disorder characterized by acid α-glucosidase (GAA) deficiency, which results in lysosomal accumulation of glycogen in all tissues, especially in skeletal muscles. PD clinical course is mainly determined by the nature of the GAA mutations. Although ~400 distinct GAA sequence variations have been described, the genotype-phenotype correlation is not always evident.In this study, we describe the first clinical and genetic analysis of Colombian PD patients performed in 11 affected individuals. GAA open reading frame sequencing revealed eight distinct mutations related to PD etiology including two novel missense mutations, c.1106 T > C (p.Leu369Pro) and c.2236 T > C (p.Trp746Arg). In vitro functional studies showed that the structural changes conferred by both mutations did not inhibit the synthesis of the 110 kD GAA precursor form but affected the processing and intracellular transport of GAA. In addition, analysis of previously described variants located at this position (p.Trp746Gly, p.Trp746Cys, p.Trp746Ser, p.Trp746X) revealed new insights in the molecular basis of PD. Notably, we found that p.Trp746Cys mutation, which was previously described as a polymorphism as well as a causal mutation, displayed a mild deleterious effect. Interestingly and by chance, our study argues in favor of a remarkable Afro-American and European ancestry of the Colombian population. Taken together, our report provides valuable information on the PD genotype-phenotype correlation, which is expected to facilitate and improve genetic counseling of affected individuals and their families.
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The cotyledonoid dissecting leiomyoma of the uterus, or Stenberg tumor, is a rare variant of a smooth muscle benign tumor, classified in the group presenting an unusual growth pattern; clinically, it affects women in reproductive age. We report the case of a 43 year-old woman, who turned up at the Centro Estatal de Atencion Oncologica (State Cancer Care Center) in Morelia, Michoacan, presenting abnormal uterine bleeding and uterine fibroid of major elements. When performing a palpatory bimanual exam, a loose uterus of approximately 7 by 6 inches was identified; it ached when moving. The laboratory tests reported normal parametriums; the ultrasound showed, however, uterine fibroids of major elements. The uterus was enlarged due to a tumor of exophytic growth, which resembles placental cotyledons extended over the uterine surface, composed by smooth muscle nodules that dissected the uterine wall, and with infiltrative appearance in parametriums and the myometrial wall. Despite this microscopic aggressive appearance, a number of ultrastructuctural studies and immunohistochemical techniques proved its benign nature. This can help patients who want to preserve fertility avoid radical surgery.
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Leiomioma/patologia , Neoplasias Uterinas/patologia , Adulto , Diagnóstico Diferencial , Feminino , HumanosRESUMO
BACKGROUND: Globally, cervical cancer primarily affects socially disadvantaged women. Five randomized trials were the foundation for adopting cisplatin-based chemotherapy during radiation as the standard of care for high-risk patients after primary radical hysterectomy who require adjuvant radiation and for locally advanced patients treated with definitive radiation. These results were obtained in clinical trials performed in carefully prepared academic centers; hence, we sought to determine whether these results could be reproduced when patients were treated on an out-of-protocol basis. METHODS: We reviewed the files of 294 patients with locally advanced cervical cancer who received radiation plus weekly cisplatin as routine management between 1999 to 2003, and analyzed treatment compliance, response rate, toxicity, and survival. RESULTS: A total of 294 patients who received radiation and cisplatin were analyzed. Mean age was 43.8 years (range, 26-68 years). The majority of cases were squamous cell carcinoma (87.8%), and distribution according to International Federation of Gynecology and Obstetrics (FIGO) stage was as follows: IB2-IIA, 23%; IIB, 53.3%, and IIIB, 23%; there were only two IVA cases. Overall, 96% of patients completed external beam, and intracavitary therapy. The majority of patients (67%) received the planned six courses of weekly cisplatin. Complete responses were achieved in 243 (83%) patients, whereas 51 (17%) had either persistent (32 patients, 10.8%) or progressive (19 patients, 6.4%) disease. At median follow-up (28 months; range, 2-68 months), 36 patients (12.2%) have relapsed (locally 30.5, and systemically, 69.5%). The most common toxicities were hematologic and gastrointestinal, in the majority of cases considered mild-moderate. At median follow-up (28 months; range, 2-68 months), overall and progression-free survival are 76.5 and 67%, respectively. CONCLUSION: Our results support use of chemoradiation with six weekly applications of cisplatin at 40 mg/m2 during external radiation for routine management of locally advanced cervical cancer.
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BACKGROUND: Most cervical cancer patients with pelvic recurrent or persistent disease are not candidates for exenteration, therefore, they only receive palliative chemotherapy. Here we report the results of a novel treatment modality for these patients pre-exenterative chemotherapy- under the rational that the shrinking of the pelvic tumor would allow its resection. METHODS: Patients with recurrent or persistent disease and no evidence of systemic disease, considered not be candidates for pelvic exenteration because of the extent of pelvic tumor, received 3-courses of platinum-based chemotherapy. Response was evaluated by CT scan and bimanual pelvic examination; however the decision to perform exenteration relied on the physical findings. Toxicity to chemotherapy was evaluated with standard criteria. Survival was analyzed with the Kaplan-Meier method. RESULTS: Seventeen patients were studied. The median number of chemotherapy courses was 4. There were 9 patients who responded to chemotherapy, evaluated by bimanual examination and underwent pelvic exenteration. Four of them had pathological complete response. Eight patients did not respond and were not subjected to surgery. One patient died due to exenteration complications. At a median follow-up of 11 months, the median survival for the whole group was 11 months, 3 months in the non-operated and 32 months in those subjected to exenteration. CONCLUSION: Pre-exenterative chemotherapy is an alternative for cervical cancer patients that are no candidates for exenteration because of the extent of the pelvic disease. Its place in the management of recurrent disease needs to be investigated in randomized studies, however, its value for offering long-term survival in some of these patients with no other option than palliative care must be stressed.
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Antineoplásicos/uso terapêutico , Neoplasias do Colo do Útero/tratamento farmacológico , Adulto , Antimetabólitos Antineoplásicos/farmacologia , Antineoplásicos/farmacologia , Área Sob a Curva , Carboplatina/farmacologia , Cisplatino/farmacologia , Desoxicitidina/análogos & derivados , Desoxicitidina/farmacologia , Intervalo Livre de Doença , Feminino , Fluoruracila/farmacologia , Humanos , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/tratamento farmacológico , Exenteração Pélvica , Projetos Piloto , Recidiva , Fatores de Tempo , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Neoplasias do Colo do Útero/mortalidade , GencitabinaRESUMO
El adenocarcinoma de la pelvis renal es uno de los tumores más raros del aparato urinario. Hasta 1982 se habían informado de 36 casos en las publicaciones del mundo. Este es un informe del primer caso del estado de Michoacán, y segundo en México. Se hace referencia especial a las siguientes observaciones clínicas: frecuencia elevada de litiasis, presencia de hidronefrosis, cronicidad de los síntomas antes del diagnóstico, incapacidad para hacerlo con base en los estudios radiográficos preoperatorios con medio de contraste, propensión del tumor a implantarse en la porción distal del uréter y frecuencia elevada de recurrencias cuando ocurre diseminación operatoria. Es importante evitar la contaminación del campo operatorio con el contenido de riñón hidronefrótico, por lo que es necesario resecar la porción distal del uréter con un manguito de vejiga.
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Humanos , Adulto , Pessoa de Meia-Idade , Masculino , Adenocarcinoma , Pelve Renal , Neoplasias Pélvicas/diagnóstico , Neoplasias Pélvicas/etiologia , Ureter , Metástase Neoplásica , Doenças UrológicasRESUMO
En el presente estudio se efectuo el analisis del extendido de sangre periferica en un grupo de 20 pacientes con sospecha clinica de bacteremia que consultaron a los diferentes servicios del Hospital Universitario de Caldas durante el periodo comprendido entre marzo y mayo de 1988. A todos los pacientes se les extrajo 5 c.c. de sangre venosa de la cual se tomo una parte para el extendido de sangre periferica con coloracion de Gram y otra parte para hemocultivo para gram positivos y gram negativos el cual se leia a las 24 y 96 horas. Relacionando la positividad y la negatividad del extendido de sangre periferica con el hemocultivo se obtuvieron los siguientes resultados: dos pacientes con estendido de sangre periferica positivo para bacterias y cuatro hemocultivos positivos, encontrandose un caso de positividad por ambos metodos. Se encontraron resultados positivos en el 11 % para el hemocuiltivo y en el 5.5.% para el extendido periferico