RESUMO
Certain genotypic combinations of killer-cell immunoglobulin-like receptors (KIR) and human leukocyte antigens (HLA) have been associated with favourable outcomes after exposure to human immunodeficiency virus in Caucasoid and African populations. Human immunodeficiency virus (HIV) infection is characterized by a rapid exhaustion of CD4 cells, which results in impaired cellular immunity. During this early phase of infection, it is thought that the natural killer (NK) cells represent the main effector arm of the host immune response to HIV. This study investigates whether KIR and HLA factors are associated to CD4 T cell numbers after HIV infection in Mexican mestizos as assessed at the time of initial medical evaluation and subsequent clinical follow-up. KIR and HLA-B gene carrier frequency differences were compared between groups of patients stratified by CD4 T cell numbers as assessed during their first medical evaluation (a point in time at which all patients were anti-retroviral therapy naïve). In addition, the influence that these genetic factors have on averaged historical CD4 cell counts in patients subjected to follow-up (mostly therapy-experienced) was also evaluated. Our results suggest a protective role for the HLA-Bw4 and KIR3D + Bw4 combination in both therapy-naïve and therapy-experienced patients. This report furthers our understanding on the way that immune genes modulate HIV disease progression in less-studied human populations such as the Mexican mestizos with a special focus on CD4 T cell number and behaviour.
Assuntos
Linfócitos T CD4-Positivos/imunologia , Infecções por HIV/imunologia , HIV-1/imunologia , Antígenos HLA-B/imunologia , Americanos Mexicanos/genética , Receptores KIR3DL1/genética , Receptores KIR3DS1/genética , Adolescente , Adulto , Idoso , Progressão da Doença , Feminino , Genótipo , Infecções por HIV/genética , Infecções por HIV/virologia , Humanos , Células Matadoras Naturais/imunologia , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
Natural killer (NK) cell function is regulated by different types of membrane-bound receptors of which killer-cell immunoglobulin-like receptors (KIRs) are the most complex and diverse. KIRs are encoded by 17 different genes located within the leukocyte receptor complex (19q13.4). The frequency with which KIR gene features are present in different human populations differs. Here, we present our results on the KIR gene diversity observed in a large group of mestizos from the central Mexican city of San Luis Potosí. In total, 53 different KIR genotypes were observed, 47 with previously described gene profiles and six harboring novel KIR gene combinations. Group A homozygous haplotypes were seen in 102 individuals (34%), while group B homozygous haplotypes were present in 45 (15%). Heterozygous combinations of groups A and B haplotypes were seen in 153 individuals (51%). Haplotype frequency estimations based on a true content of 600 chromosomes showed a relatively balanced proportion of group A (59.5%) and group B (40.5%) haplotypes in our study population. A homozygous combination of the cA01|tA01 haplotype was present in 33% of the population with other frequent combinations being cA01|tA01, cB03|tB01 in 14.7% and cA01|tA01, cB02|tA01 in 12%. The dendrogram derived from activating KIR gene phylogenetic analysis revealed five clearly distinct clades corresponding to African, East Asian, Arab/Caucasoid, Mexican mestizo/Amerindian and South Asian populations. Our results illustrate the genetic contribution that Caucasoid and Amerindian populations have made toward present-day Mexicans and suggest an important Southeast Asian genetic contribution to native Amerindian populations.
Assuntos
Variação Genética , Indígenas Norte-Americanos/genética , Receptores KIR/genética , Povo Asiático/etnologia , Povo Asiático/genética , Frequência do Gene , Haplótipos/genética , Humanos , Indígenas Norte-Americanos/etnologia , Leucócitos , México/etnologia , Filogenia , Receptores KIR2DL2/genética , Receptores KIR2DL4/genética , Receptores KIR3DL2/genética , População Branca/etnologia , População Branca/genéticaRESUMO
BACKGROUND: Pancreatic cystic lesions (PCL) are identified in 1 % of patients who undergo abdominal computed tomography scans, because it is difficult to discriminate clinically between benign and malignant PCL. The PCL must be distinguished from inflammatory pseudocysts, which can have a similar radiographic appearance. The aim of this study was to review the incidence of PCL during 10 years. METHODS: Nineteen consecutive patients who underwent surgical resection of a cystic lesion of the pancreas during a 10-year period were reviewed. RESULTS: From 1998, 434 patients underwent to pancreatic surgery, 103 (25.75%) resulted with neoplasm of the pancreas and a PCL was diagnosed in 19 of them (18.44%). They were more common in women (n=15, 79%). The pathologic diagnosis was mucinous cystadenoma (n=6, 31.5%) followed by serous cystadenoma and solid cystic papilar tumor (n=4, 21%). Mucinous cystadenocarcinoma was diagnosed in a 77 year-old man and a serous cystadenocarcinoma was diagnosed in a 53 years-old woman; cystic degeneration of two insulinomas were diagnosed in a 71 year-old woman and a 32 year-old man (5.26%). CONCLUSIONS: PCLs represent a spectrum of associated diseases. The incidence of serous cystadenoma is lower in our experience.
Assuntos
Cisto Pancreático/epidemiologia , Neoplasias Pancreáticas/epidemiologia , Adulto , Idoso , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Fatores de Tempo , Adulto JovemRESUMO
BACKGROUND: Renal sarcomas represent 1-2% of malignant kidney tumors in adults; 50% of renal sarcomas are composed of leiomyosarcomas. These tumors generally arise from the renal capsule, smooth muscle tissue of the renal pelvis and intrarenal vessels. They are indistinguishable from other renal masses prior to surgery and are associated with an adverse prognosis. CLINICAL CASE: We report the case of a 58-year-old female with a clinical course characterized by asthenia, weakness, generalized attack to her health status and pain in the left renal fossa. Computed axial tomography was performed where a left retroperitoneal tumor was diagnosed. Left radical nephrectomy was performed. The histopathology report demonstrated leiomyosarcoma originating from the renal sinus vessels. The patient was successfully treated with adjuvant radiotherapy. CONCLUSIONS: Renal leiomyosarcomas usually have an aggressive biological behavior with poor prognosis, accounting for surgical treatment with wide resection associated with adjuvant chemotherapy and radiotherapy as the only therapeutic option.
Assuntos
Neoplasias Renais/diagnóstico , Leiomiossarcoma/diagnóstico , Dor Abdominal/etiologia , Biomarcadores Tumorais/análise , Terapia Combinada , Feminino , Humanos , Neoplasias Renais/patologia , Neoplasias Renais/radioterapia , Neoplasias Renais/cirurgia , Leiomiossarcoma/patologia , Leiomiossarcoma/radioterapia , Leiomiossarcoma/cirurgia , Pessoa de Meia-Idade , Nefrectomia , Radioterapia Adjuvante , Indução de Remissão , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Tuberculosis is frequently the form of presentation of human immunodeficiency virus (HIV) infection even in patients who have not developed acquired immune deficiency syndrome (AIDS). Nevertheless, pancreatic affection is uncommon. Tuberculosis of the pancreas (TBP) is a clinical rarity and mimics pancreatic carcinoma both clinically and radiologically. CLINICAL CASE: We present the case of a 42-year-old man with a 5-day evolution of moderate abdominal pain in the right lower quadrant and fever and vomiting without diarrhea. The patient had no history of abdominal surgery. CT scan revealed a heterogeneously enhancing, multicystic structure in the pancreatic head. Due to suspicion of malignancy, a pancreatoduodenectomy was performed with pathological result of pancreatic tuberculosis. The patient was discharged on the 10th postoperative day without surgical complications. He died 10 months later of Pneumocystis jirovecii pneumonia. By that time he had a positive serum HIV antibodies test. CONCLUSIONS: TBP diagnosis can be missed or significantly delayed because it is often not suspected prior to laparotomy unless there is evidence of pulmonary tuberculosis. TBP should be considered in the differential diagnosis of a mass in the head of the pancreas. The response to early antituberculosis treatment is very effective.
Assuntos
Infecções Oportunistas Relacionadas com a AIDS/diagnóstico , Dor Abdominal/etiologia , Febre/etiologia , Pancreatite/diagnóstico , Tuberculose Endócrina/diagnóstico , Infecções Oportunistas Relacionadas com a AIDS/complicações , Infecções Oportunistas Relacionadas com a AIDS/cirurgia , Adulto , Antituberculosos/uso terapêutico , Diagnóstico Tardio , Erros de Diagnóstico , Evolução Fatal , Soropositividade para HIV , Humanos , Masculino , Neoplasias Pancreáticas/diagnóstico , Pancreaticoduodenectomia , Pancreatite/complicações , Pancreatite/cirurgia , Pneumonia por Pneumocystis/complicações , Tuberculose Endócrina/complicações , Tuberculose Endócrina/tratamento farmacológico , Tuberculose Endócrina/cirurgiaRESUMO
BACKGROUND: Patients with ulcerative colitis (UC) or Crohn's disease (CD) have an increased risk for the development of colorectal dysplasia and carcinoma. Although appendiceal inflammation occurs histologically in 40-86% of colectomy specimens from patients with inflammatory bowel disease (IBD), appendiceal neoplasms have been reported only infrequently, and the notion of a direct association between IBD and appendiceal neoplasia is speculative. CLINICAL CASE: A 54-year-old male patient developed abdominal pain and bloody diarrhea 3 years prior. Colonoscopy and biopsy established the diagnosis of UC (proctosigmoiditis). Disease activity was moderate at the beginning and the patient initially received medical treatment with mesalazine and prednisone. He was admitted to our clinic for right lower abdominal pain. Physical examination revealed tenderness on palpation at this site. Laboratory tests were normal (including serum carcinoembryonic antigen and CA 19-9). Colonoscopy showed intrinsic compression of the cecum. The patient underwent partial cecum resection and extirpation of the mucocele. He presented postsurgical ileus resolved with medical treatment. Final histological report revealed cystadenoma of the appendix. At the 20-month follow-up, the patient was in satisfactory condition. CONCLUSIONS: We present the eighth patient, to our knowledge, with a primary cystadenoma of the appendix and UC. Special attention should be paid to patients with extraordinary symptoms during follow-up, even in UC patients.
Assuntos
Neoplasias do Apêndice/complicações , Colite Ulcerativa/complicações , Cistadenoma/complicações , Mucocele/etiologia , Dor Abdominal/etiologia , Neoplasias do Apêndice/diagnóstico , Neoplasias do Apêndice/diagnóstico por imagem , Neoplasias do Apêndice/cirurgia , Calcinose/complicações , Calcinose/diagnóstico por imagem , Cistadenoma/diagnóstico , Cistadenoma/diagnóstico por imagem , Cistadenoma/cirurgia , Hemorragia Gastrointestinal/etiologia , Humanos , Íleus/etiologia , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , Proctite/complicações , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: in patients with early-stage cervical cancer (FIGO IA, IB2 and IIA), the incidence of lymph node metastases is up to 15%; the majority of early cervical cancer patients with pelvic and para-aortic lymphadenectomy does not benefit with the procedure and are at risk of associated morbidity (linfocyst, lymphedema, vascular or nerve damage). OBJECTIVE: To describe the experience and usefulness of lymphatic mapping and sentinel lymph node with total laparoscopic radical hysterectomy in early stage cervical cancer. PATIENTS AND METHOD: Retrospective study in patients with diagnosis of cervical cancer in early stage, submitted to laparoscopic radical hysterectomy with lymphatic mapping and sentinel lymph node biopsy. We analyzed sentinel lymph node identification, false negative rate and surgical variables. RESULTS: in 36 months 15 patients were included, two in IA2 FIGO stage, twelve IB1 and one IIA; thirteen patients were mapping with combined technique and two only with dye. The sentinel lymph node identification rate was 87% (two failures in the patients using only blue dye); the false negative rate was 0%. CONCLUSION: Laparoscopic radical hysterectomy with lymphatic mapping is a secure technique for patients with early stage cervical cancer; it allows the correct identification of lymph node status as the principal prognostic factor. We recommend the use of combined technique (radiocolloid tracer and blue dye) for best rate sentinel lymph node identification.
Assuntos
Adenocarcinoma/cirurgia , Carcinoma de Células Escamosas/cirurgia , Histerectomia/métodos , Laparoscopia/métodos , Excisão de Linfonodo/métodos , Biópsia de Linfonodo Sentinela/métodos , Neoplasias do Colo do Útero/cirurgia , Adenocarcinoma/patologia , Adulto , Carcinoma de Células Escamosas/patologia , Corantes , Feminino , Humanos , Metástase Linfática/diagnóstico por imagem , Metástase Linfática/patologia , Estadiamento de Neoplasias , Complicações Pós-Operatórias , Cintilografia , Compostos Radiofarmacêuticos , Estudos Retrospectivos , Corantes de Rosanilina , Tecnécio , Neoplasias do Colo do Útero/patologiaRESUMO
BACKGROUND: Intestinal lipomatosis is a rare disease with an incidence at autopsy ranging from 0.04 to 4.5%. Few cases have been reported in the medical literature. The condition is usually asymptomatic. Symptomatic cases usually present as obstruction or, less frequently, as bleeding. Intestinal barium studies, ultrasonography and computed tomography (CT) are useful diagnostic techniques. CLINICAL CASE: A 51-year-old male was evaluated for progressive abdominal pain, tachycardia, headache and nausea. One year before this examination, he was evaluated for gastrointestinal bleeding. Abdominal CT with contrast enhancement demonstrated multiple submucosal masses in stomach and small bowel. CT and barium examination features were typical of lipomas. No specific treatment, invasive procedures or surgery were performed for the asymptomatic intestinal lipomas. The patient has remained symptom-free for 1 year. CONCLUSIONS: Benign tumors of the small bowel are relatively rare, with lipoma being the most common type. The case reported here is considered to be unusual because stomach, duodenum, jejunum and ileum were affected. Lipomas are usually seen as smooth, nonulcerated filling defects. With these typical radiographic findings, preoperative diagnosis is possible keeping in mind this rare disease.
Assuntos
Enteropatias/diagnóstico , Intestino Delgado , Lipomatose/diagnóstico , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Introducción: La lipomatosis intestinal es una rara enfermedad con una incidencia en autopsias de 0.04 a 4.5 %. Pocos casos se han informado en la literatura médica. La condición es por lo general asintomática. Los casos sintomáticos se presentan con obstrucción o, con menor frecuencia, hemorragia. Los estudios con bario, ultrasonografía y tomografía computarizada son los procedimientos diagnósticos más comunes. Caso clínico: Hombre de 51 años de edad evaluado por dolor abdominal progresivo, taquicardia, cefalea y náusea. Fue estudiado un año antes por hemorragia gastrointestinal sin diagnóstico definitivo. La tomografía computarizada de abdomen con contraste demostró múltiples masas submucosas en estómago e intestino delgado. Las características del estudio con bario y tomografía computarizada fueron típicas de lipomatosis, por lo que no se realizaron procedimientos invasivos o quirúrgicos. El paciente se ha mantenido asintomático por un año. Conclusiones: Los tumores benignos del intestino delgado son relativamente raros, siendo el lipoma el tipo más común. El caso informado es inusual debido a la afección de estómago, duodeno, yeyuno e íleon. Los lipomas por lo general se presentan con superficie lisa y defectos de llenado no ulcerados. Con los hallazgos radiológicos típicos es posible hacer el diagnóstico preoperatorio si se considera esta rara enfermedad.
BACKGROUND: Intestinal lipomatosis is a rare disease with an incidence at autopsy ranging from 0.04 to 4.5%. Few cases have been reported in the medical literature. The condition is usually asymptomatic. Symptomatic cases usually present as obstruction or, less frequently, as bleeding. Intestinal barium studies, ultrasonography and computed tomography (CT) are useful diagnostic techniques. CLINICAL CASE: A 51-year-old male was evaluated for progressive abdominal pain, tachycardia, headache and nausea. One year before this examination, he was evaluated for gastrointestinal bleeding. Abdominal CT with contrast enhancement demonstrated multiple submucosal masses in stomach and small bowel. CT and barium examination features were typical of lipomas. No specific treatment, invasive procedures or surgery were performed for the asymptomatic intestinal lipomas. The patient has remained symptom-free for 1 year. CONCLUSIONS: Benign tumors of the small bowel are relatively rare, with lipoma being the most common type. The case reported here is considered to be unusual because stomach, duodenum, jejunum and ileum were affected. Lipomas are usually seen as smooth, nonulcerated filling defects. With these typical radiographic findings, preoperative diagnosis is possible keeping in mind this rare disease.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Enteropatias/diagnóstico , Intestino Delgado , Lipomatose/diagnósticoRESUMO
BACKGROUND: Gastroduodenal involvement in Crohn's disease (CD) is relatively rare (0.5-13%) and occasionally causes pyloric stenosis, for which medical therapy may be ineffective and surgery may be required. With more frequent use of upper endoscopy, however, upper gastrointestinal involvement has been found to be more common than previously suspected. About one third of the patients with symptomatic gastroduodenal CD undergo surgery, most of them for obstruction. Gastroenterostomy with vagotomy is the surgical treatment of choice. Resection, strictureplasty or balloon dilatation maybe performed in selected patients. CLINICAL CASE: We report a 50-year-old woman patient with recurrent vomiting especially after eating and epigastric discomfort with dyspepsia, abdominal pain, with initially misdiagnosed pyloric CD that three years later developed colonic stenosis. CONCLUSIONS: Clinics should be aware of the possibility that in young and middle aged adults such upper gastrointestinal symptoms as epigastric discomfort, vomiting and weight loss may occur as a initial manifestation of CD or as an extension of the disease.