RESUMO
Because ring Y chromosomes are unstable during cell division most reported patients are mosaics, usually including a 45,X cell line. The phenotype varies from normal males or females with streak gonads to sexual ambiguities. We present here the case of a 23-year-old man who was referred at 11 years for growth delay. The GTG-banded karyotypes of lymphocytes revealed two cell lines: 46,X,dic r(Y) seen in 76% of the metaphases analyzed and 45,X (24%). Karyotypes and FISH were performed eight years later with the following probes: DYZ3 (Y centromere), SRY (sex-region of the Y), DYZ1 (Yq heterochromatin), CEPX/Y (X centromere and Yq heterochromatin), TelVysion Xp/Yp, Xq/Yq (X and Y subtelomeres), pan-telomeric, cosmid clones LLycos130G04 and LLycos37C09 (PARII), and BAC clone RP11-5C5 (Yq11.223). The results showed an increase in the 45,X cell line (60%) and a reduction in the 46,X,dic r(Y) cell line (36.4%). The use of Yq probes showed that the ring Y chromosome was dicentric. In addition, other ring Y structures were observed. The breakpoints occurred in proximal Yp11.32 or in Yp11.31 distal to SRY and in Yq12 distal to the PARII region. Therefore, most of the Y remained intact and all genes, with the exception of those in PARI, are present in double dosage in the dic r(Y). The level of mosaicism was important in defining the phenotype.
Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Y , Transtornos do Crescimento/genética , Mosaicismo , Adulto , Linhagem da Célula , Cromossomos Humanos X , Doenças Genéticas Ligadas ao Cromossomo Y , Humanos , Masculino , FenótipoRESUMO
Polymorphic B-cell lymphoma seen in four patients with congenital immunodeficiencies and in two patients with leukemia receiving chemotherapy was associated with the Epstein-Barr virus (EBV). The tumors had characteristic histologic features: they were polymorphic consisting of a mixture of lymphoblasts and differentiated cells including plasma cells, and areas of hemorrhagic necrosis were prominent. The tumors were either polyclonal, monoclonal, or multiclonal. Patients with congenital immunodeficiencies who developed these tumors died despite radiotherapy, corticosteroids plus acyclovir, or a combination of intravenous (IV) immunoglobulins and alpha 2 interferon. Patients with leukemia recovered when immunosuppressive drugs were discontinued and leukemia has not recurred over a period of 2 and 4 years, respectively, in the two patients.
Assuntos
Neoplasias Encefálicas/complicações , Linfoma de Burkitt/complicações , Síndromes de Imunodeficiência/congênito , Leucemia Linfoide/complicações , Antineoplásicos/administração & dosagem , Linfócitos B , Neoplasias Encefálicas/patologia , Linfoma de Burkitt/patologia , Pré-Escolar , Feminino , Herpesvirus Humano 4 , Humanos , Síndromes de Imunodeficiência/complicações , Lactente , Leucemia Linfoide/tratamento farmacológico , Leucemia Linfoide/patologia , MasculinoRESUMO
Neuromuscular choristoma, also known as benign "triton" tumor, is an uncommon peripheral nerve tumor usually occurring in early childhood. We report two cases, a 6-year-old girl with a solitary tumor of the supraclavicular fossa, and a 14-year-old girl with multiple small neuromuscular choristomas surrounding a recurrent massive musculoaponeurotic fibromatosis of the right axilla. These choristomas were bound firmly to the involved nerves, and consisted histologically of bundles of mature striated muscle fibers intermingled with myelinated nerve fibers. Our review of the literature indicates that these tumors are benign, regress with time, do not recur, and are usually not accompanied by functional impairment of the affected nerves before biopsy, so that wide or complete excision should not be attempted. Histogenetically, the striated muscle fibers in the nerves probably derive from nondifferentiated ectomesenchymal cells.
Assuntos
Coristoma/patologia , Músculos , Neoplasias do Sistema Nervoso Periférico/patologia , Adolescente , Axila , Criança , Clavícula , Feminino , Humanos , Microscopia Eletrônica , Recidiva Local de Neoplasia/patologia , Fibras Nervosas Mielinizadas/patologia , Nervos Periféricos/patologiaRESUMO
Primary sclerosing cholangitis in five children is described and 78 cases in the pediatric age group are reviewed. In 24% of the cases, primary sclerosing cholangitis is not associated with an underlying disease and may appear to be prolonged cholestasis of infancy. When an associated condition is present, chronic inflammatory bowel disease, in particular ulcerative colitis, is most common (47%). Histiocytosis X and a variety of immune disorders account for 15% and 10% of cases, respectively. Primary sclerosing cholangitis should be considered in the differential diagnosis of chronic liver disease in the pediatric age group, even in young infants. Results of this survey demonstrate that neither clinical features nor liver function tests are reliable diagnostic predictors, that histologic changes are often nonspecific, and that cholangiography is essential to establish the correct diagnosis.
Assuntos
Colangite , Adolescente , Ductos Biliares/patologia , Pré-Escolar , Colangiografia , Colangite/complicações , Colangite/diagnóstico , Colangite/cirurgia , Feminino , Humanos , Lactente , Masculino , EscleroseRESUMO
An in-house polymerase chain reaction direct sequencing (PCR-DS) approach for HPV detection and typing was developed, taking advantage of two widely used pairs of human papillomavirus (HPV)-specific PCR primers, MY09/MY11 and GP5/GP6, and 33P-labeled dideoxynucleotides. In this study, 105 pathological specimens were examined: 89% were diagnosed as cervical intraepithelial neoplasia (CIN) grade I-III, 76.2% were HPV-positive by PCR-DS. The PCR using GP5/GP6 (first tier) and MY09/MY11 primers (second tier for the GP5/GP6-negative samples) detected additional 15%-25% HPV-positive samples compared with each pair used separately. Direct sequencing was then used to type the HPV. A readout of a sequence as short as 34 nucleotides within a specific region in the L1 gene is sufficient to type known or novel sequences. Because of its high sensitivity and cost-effectiveness, the two-tier PCR-DS was adopted by the authors as the current method of choice for HPV diagnosis with ultimate sequence precision.
Assuntos
Sondas de DNA de HPV , DNA Viral/análise , Papillomaviridae/classificação , Infecções por Papillomavirus/virologia , Reação em Cadeia da Polimerase/métodos , Análise de Sequência de DNA/métodos , Infecções Tumorais por Vírus/virologia , Virologia/métodos , Canal Anal/virologia , Carcinoma de Células Escamosas/virologia , Colo do Útero/virologia , Didesoxinucleosídeos , Epiglote/virologia , Feminino , Genes Virais , Humanos , Laringe/virologia , Nevo/induzido quimicamente , Papillomaviridae/genética , Papillomaviridae/isolamento & purificação , Alinhamento de Sequência , Neoplasias Cutâneas/induzido quimicamente , Neoplasias do Colo do Útero/virologia , Úvula/virologia , Vulva/virologia , Displasia do Colo do Útero/virologiaRESUMO
Andermann et al. described in 1972 an autosomal recessive inherited syndrome which associates agenesis of the corpus callosum, mental deficiency, and a peripheral motor deficit. We had the opportunity to study in detail 15 patients affected by this syndrome. As in the cases previously reported, the families of these children all originated from Charlevoix County and the Saguenay-Lac St-Jean area in the Province of Quebec. Clinically, these patients have a characteristic facies and moderate mental retardation associated with a progressive motor neuropathy leading to loss of ambulation by adolescence and progressive scoliosis. In 13 of these 15 patients, neuroradiological investigation has shown either total or partial agenesis of the corpus callosum. In every patient in whom these tests were done, sensory nerve action potentials were absent and motor nerve conduction velocities reduced. We also found neurogenic abnormalities both on EMG and neuromuscular biopsies. These abnormalities are similar to those described in Friedreich's ataxia and in hereditary motor and sensory neuropathy type II, although in our patients the motor deficit is much more severe than in these diseases. The pathogenesis of the peripheral nervous system involvement is still unknown since there have so far been no autopsy studies of this syndrome.
Assuntos
Agenesia do Corpo Caloso , Deficiência Intelectual/genética , Doenças do Sistema Nervoso Periférico/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Genes Recessivos , Humanos , Lactente , Deficiência Intelectual/patologia , Masculino , Microscopia Eletrônica , Músculos/patologia , Nervos Periféricos/patologia , Doenças do Sistema Nervoso Periférico/patologia , SíndromeRESUMO
Several authors have recently reported a neurological disorder associated with chronic vitamin E deficiency in man. Except in one patient, this deficiency has always been secondary to an underlying disease resulting in lipid malabsorption. We report a second case of such a neurological syndrome in a patient in whom vitamin E deficiency was an isolated finding. The clinical picture in our patient was characterized by a diffuse muscle weakness most prominent distally and in the lower limbs, generalized areflexia, a decrease in proprioception and vibration sense and slight limb and gait ataxia. His condition improved on alpha tocopherol therapy so that it is very likely that vitamin E deficiency is responsible for his neurological deficit. Since in our patient as well as in several other reported cases this condition has been treatable, it is important that this syndrome be recognized in children presenting a suggestive clinical picture even if they do not have lipid malabsorption.
Assuntos
Doenças do Sistema Nervoso/diagnóstico , Deficiência de Vitamina E/diagnóstico , Ataxia/diagnóstico , Criança , Eletromiografia , Humanos , Masculino , Músculos/patologia , Doenças do Sistema Nervoso/patologia , Nervos Periféricos/patologia , Reflexo Anormal/diagnóstico , Síndrome , Deficiência de Vitamina E/patologiaRESUMO
A 6-month-old male infant with a severe combined immunodeficiency syndrome was hospitalized for progressive respiratory distress. Examination during hospitalization disclosed widespread pulmonary infiltrates that did not respond to intensive therapy. The patient died eight days after admission. Autopsy disclosed Pneumocystis carinii pneumonia and widespread giant cell pneumonia. Respiratory syncytial virus (RSV) was grown from a lung specimen obtained at autopsy. Specific immunofluorescent staining of the cytoplasm of alveolar lining cells with RSV antiserum was demonstrated. The electron microscopic appearance of giant cells was compatible with RSV infection. The RSV should be added to the list of viruses causing giant cell pneumonia.
Assuntos
Síndromes de Imunodeficiência/complicações , Pneumonia por Pneumocystis/etiologia , Infecções por Respirovirus/complicações , Humanos , Lactente , Pulmão/patologia , Masculino , Pneumonia por Pneumocystis/patologia , Vírus Sinciciais Respiratórios , Infecções por Respirovirus/patologiaRESUMO
Rectal biopsy material from a patient with type 4 glycogenosis was studied by ultrastructural cytochemical methods. The diagnosis of the disease was made on the basis of the patient's clinical history, the autopsy findings, and the histopathological features. Numerous large macrophages were observed in the rectal mucosa. They contained large vacuoles filled with filamentous material and small granules. This amylopectin was stained by the Thiery method (periodic acid-thiocarbohydrazide-silver proteinate) after 18 hours of exposure to thiocarbohydrazide; only 30 minutes was sufficient to demonstrate seemingly normal beta-glycogen particles in epithelial cells.
Assuntos
Doença de Depósito de Glicogênio Tipo IV/diagnóstico , Doença de Depósito de Glicogênio/diagnóstico , Mucosa Intestinal/patologia , Reto/patologia , Autopsia , Biópsia por Agulha , Feminino , Doença de Depósito de Glicogênio Tipo IV/metabolismo , Histocitoquímica , Humanos , Lactente , Mucosa Intestinal/metabolismo , Mucosa Intestinal/ultraestrutura , Reto/metabolismo , Reto/ultraestruturaRESUMO
Similar in appearance to preauricular tags but located in the lateral neck, cervical chondrocutaneous branchial remnants are a rather less common and less well known congenital lesion. A retrospective review of admissions at Sainte-Justine Hospital between 1980 and 1993 produced 20 cases of cervical tags, of which 17 were true cervical chrondrocutaneous branchial remnants and 3 were skin tags associated with a thyroglossal duct. Of the 17 true cervical chrondrocutaneous branchial remnants, 15 were operated on in our institution. The clinical characteristics, results of investigations, surgical data, pathologic findings, and associated anomalies were documented. Several interesting facts emerged, including a male predominance (11 of 17), a scarcity of bilateral lesions (1 of 17), the presence of an elastic cartilage core in all operated specimens (15 of 15), and a high incidence of associated anomalies (13 of 17). We suggest that the second branchial arch is the most likely origin for the lesion. We propose a clear, widely acceptable name for this anomaly in order to prevent further diagnostic confusion. Most important, although simple surgical excision is all that is required for treatment, a complete physical examination of the patient and possibly an ultrasound examination of the genitourinary tract are recommended because a cervical chrondrocutaneous branchial remnant has proven in many cases to be a visible "marker" for more serious associated anomalies.
Assuntos
Região Branquial/anormalidades , Cartilagem/anormalidades , Pescoço/anormalidades , Anormalidades da Pele , Anormalidades Múltiplas/diagnóstico , Região Branquial/patologia , Região Branquial/cirurgia , Cartilagem/patologia , Cartilagem/cirurgia , Criança , Pré-Escolar , Procedimentos Cirúrgicos Dermatológicos , Feminino , Humanos , Lactente , Masculino , Pescoço/patologia , Pescoço/cirurgia , Estudos Retrospectivos , Pele/patologiaRESUMO
The most common benign liver tumors are hemangiomas and hamartomas, both of mesenchymal origin. Mortality for patients with these tumors has traditionally been substantial despite benign histology. Between 1965 and 1989, 22 patients were treated for a benign liver tumor. This represents 42% of all primary neoplasms of the liver observed during this period. Incidental findings of liver tumors at autopsy were excluded from this series. There were 9 boys and 13 girls with a mean age at presentation of 2.3 years (range, birth to 14 years). Sixteen had hemangiomas and presented earlier in life (mean age, 4.4 months). In this subgroup, high-output cardiac failure was present in 58% of the newborns. Seven hemangiomas were resected, four were observed, three were treated with digitalis, diuretics, and steroids, and one received epsilon-aminocaproic acid. Nonhemangiomatous tumors included four hamartomas, one focal nodular hyperplasia, and one nodular transformation. All six were resected. There was one death early in the series. At a mean follow-up of 38 months, 21 of the 22 patients are cured or asymptomatic. In the past, mortality rates of close to 90% have prompted many investigators to advocate resection of every symptomatic hemangioma. With the availability of more sophisticated imaging techniques and refinements in the treatment of cardiac failure, surgery can be used more selectively. Hepatic resections, once considered heroic, can now be performed with minimal morbidity and virtually no mortality. The 96% survival in this series of benign liver tumors contrasts with high mortality rates reported in the literature and illustrates the spectacular improvements that have been made in the diagnosis and management of these once ill-reputed tumors.
Assuntos
Hamartoma/mortalidade , Hemangioma/mortalidade , Neoplasias Hepáticas/mortalidade , Fígado/patologia , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Hamartoma/cirurgia , Hemangioma/tratamento farmacológico , Hemangioma/cirurgia , Humanos , Hiperplasia/mortalidade , Hiperplasia/cirurgia , Lactente , Recém-Nascido , Fígado/cirurgia , Neoplasias Hepáticas/tratamento farmacológico , Neoplasias Hepáticas/cirurgia , Masculino , Estudos Retrospectivos , Taxa de SobrevidaRESUMO
Tracheal morphology, morphometric changes, and growth and histologic changes were studied in puppies submitted to tracheal resection and anastomosis. Fifteen mongrel puppies about 12 weeks old and weighing on an average 5.5 kg were operated under general anesthesia using fluothane. A median cervicotomy incision was made in ten puppies (experimental group, EG) and the proximal 14 tracheal rings were resected (average length 5.08 cm or about 35% to 38% of total tracheal length). One layer anastomosis was done using vicryl 4.0 maintaining the average tension of 1,450 g. Five puppies (control group, CG) were submitted to tracheal transection and anastomosis and the following parameters were studied. Tracheal morphology the trachea of the EG was a rounded triangle whereas in the CG it was oval in shape, there was increase in the intercartilageneous spaces in the EG, no granulation tissue was present, two mucous webs were seen in the EG and one in the CG. Morphometric changes average tracheal length EG 13 cm, CG 17.7 cm, intercartilagenous space EG 3.08 mm, CG 1.3 mm, intercricothyroid space EG 1.2 cm, CG 0.53 cm, sagittal and transverse tracheal thickness at the anastomosis EG 2.6 and 3.3 mm, CG 2 and 1.5 mm, sagittal and transverse diameter reduced on an average 2 mm in EG. Histology Moderate fibrosis was found at the level of anastomosis with no modification of chondrocytes at the cartilagenous rings in the EG. Even with high anastomotic tension, the dogs had normal tracheal growth without stenosis; the sagittal and transverse growth at the anastomosis in the EG was 90% and 85%, respectively, when compared with the CG.
Assuntos
Traqueia/cirurgia , Animais , Cartilagem Cricoide/crescimento & desenvolvimento , Cães , Elasticidade , Cartilagem Tireóidea/crescimento & desenvolvimento , Traqueia/crescimento & desenvolvimentoRESUMO
Vascular anomalies are an uncommon cause of gastrointestinal bleeding in childhood. Confusing nomenclature has made objective comparisons of published cases difficult and has interfered with an established consensus regarding diagnosis and therapeutic modalities. The purpose of this study was to clarify the situation by reviewing the records of all children who had intestinal vascular anomalies who were referred to our institution from 1975 to 1995. Thirteen lesions were identified in nine children (five boys and four girls). The median age at clinical onset was 8 years. Only two patients presented with a complex syndrome (Klippel-Trenaunay, 1; Osler-Rendu-Weber, 1). Diagnosis, location, and extension of these anomalies was only possible by angiography, which indicated that seven patients had isolated venous malformations and two had arteriovenous malformations. Because the lesions did not involve the serosa, intraoperative localization was a major problem. The main findings were a few slightly dilated mesenteric veins. Treatment was conservative in four children and surgical in five. Pathological findings on resected bowel demonstrated dilated and abnormal veins in the mucosa and submucosa. Selective angiography should not be delayed in patients with gastrointestinal bleeding if results of all other investigations are negative. Because these lesions are rarely recognizable on operative inspection, precise preoperative angiographic localization of intestinal vascular anomalies is essential to allow for a safe and limited resection of the involved bowel segment. Based on a better understanding of the natural history of these lesions, a classification of vascular anomalies of intestines in children is proposed.
Assuntos
Malformações Arteriovenosas , Enteropatias , Intestinos/irrigação sanguínea , Microcirculação/anormalidades , Adolescente , Angiografia , Malformações Arteriovenosas/classificação , Malformações Arteriovenosas/patologia , Malformações Arteriovenosas/cirurgia , Criança , Pré-Escolar , Feminino , Hemorragia Gastrointestinal/etiologia , Humanos , Enteropatias/classificação , Enteropatias/patologia , Enteropatias/cirurgia , Masculino , Microcirculação/cirurgiaRESUMO
Leiomyoma of the esophagus is not uncommon in the adult population but is rarely seen in children; only 20 cases have been reported in the pediatric population. In this paper we describe two cases of esophageal leiomyoma in female patients aged 6 and 13 years and review previous reports. Several differences were noted between the pediatric and adult population. The mean age in children is 14 years (range, 4 to 20 years). Leiomyoma appears 1.71 times more often in females than in males. Localized lesions are found in only 9%, whereas the diffuse form predominates in 91%. The entire esophagus may be involved 35% of the time, and encroachment on the cardia or upper stomach occurs in 70%. Leiomyomas associated with familial syndromes (familial leiomyoma and Alport's syndrome) occur in 22% of the cases. Major symptoms include dysphagia (86%), dyspnea (36%), vomiting (27%), retrosternal pain (27%), and coughing (22%). The initial diagnosis following contrast studies is most often achalasia. The diagnosis of leiomyoma is made only with subsequent endoscopy. Enucleation was performed in only 11% of the cases; surgical resection (including part of the stomach) was necessary in 78% with a 21% postoperative mortality. Esophageal leiomyoma should be considered in the differential diagnosis of mediastinal masses and esophageal obstruction. Accurate preoperative diagnosis is desirable in order to plan proper surgical treatment.
Assuntos
Neoplasias Esofágicas/cirurgia , Leiomioma/cirurgia , Adolescente , Criança , Neoplasias Esofágicas/diagnóstico , Feminino , Humanos , Leiomioma/diagnósticoRESUMO
Gallbladder anomalies are rare and normally affect its shape, size, and position. We report on a 3-year-old boy with a gallbladder divided transversally by a windsock-type diaphragm, isolating the fundus from the rest of the biliary tree. Bilobed and multiseptated gallbladder have been described before, but this is the first isolated case of a congenital hourglass gallbladder.
Assuntos
Cisto do Colédoco/cirurgia , Vesícula Biliar/anormalidades , Pré-Escolar , Colangiografia , Colecistectomia , Colecistografia , Cisto do Colédoco/diagnóstico , Cisto do Colédoco/patologia , Vesícula Biliar/patologia , Humanos , MasculinoRESUMO
BACKGROUND: Pleuropulmonary blastoma is among the rarest tumors of childhood. Three types have been described: cystic, solid, and mixed. To date, bilateral disease has not been documented. METHODS AND RESULTS: A 5-week-old girl presented with a history of fever. Chest x-ray showed bilateral diffuse cystic lesions. Bowel obstruction developed that required laparotomy. Multiple small bowel polyps were resected. The patient was readmitted 4 months later with deteriorating respiratory status. She underwent sequential thoracotomies for resection of multiple bullae under high-frequency oscillatory ventilation. Small bowel polypectomies were again required because of obstruction. Lung lesions were compatible with pulmonary blastoma but could not be correlated with intestinal polyposis. Bilateral cystic renal lesions were seen on ultrasound scan. Her disease progressed, despite chemotherapy, with the appearance of metastatic iris lesions. She again underwent laparotomies for multiple recurrent generalized small bowel polyps that were causing obstruction. Expanding renal cysts affected kidney function, and she died at 14 months of age. CONCLUSIONS: The rare association between pleuropulmonary blastoma and Wilms' tumor or nephroblastomatosis is known but rarely reported. Lacking pathological evidence, we can only speculate that this was the case. We have been unable to demonstrate any histological association between the renopulmonary and digestive lesions. Despite many unanswered questions, we are likely dealing with a "syndrome" of sorts with a dire outcome, despite aggressive treatments.
Assuntos
Neoplasias Pulmonares/diagnóstico , Blastoma Pulmonar/diagnóstico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Biópsia por Agulha , Evolução Fatal , Feminino , Humanos , Lactente , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/patologia , Blastoma Pulmonar/tratamento farmacológico , Blastoma Pulmonar/patologia , Tomografia Computadorizada por Raios XRESUMO
We describe a 12 year-old patient that relapsed into fulminant non A, non B, non C (NANBNC) hepatitis 10 weeks post-clinical recovery. A complete clinical and pathological evaluation, including an ultra-structural examination of a liver biopsy was consistent with the diagnosis of NANBNC hepatitis. The patient relapsed into hepatic failure and required transplantation. NANBNC hepatitis may have a relapsing form that can lead to hepatic failure requiring transplantation. Consultants in hepatology should have a high degree of clinical awareness and maintain prolonged patient follow-up.
Assuntos
Encefalopatia Hepática/etiologia , Hepatite/complicações , Doença Aguda , Alanina Transaminase/sangue , Bilirrubina/sangue , Criança , Encefalopatia Hepática/patologia , Encefalopatia Hepática/cirurgia , Hepatite/sangue , Hepatite/patologia , Hepatite Viral Humana/sangue , Hepatite Viral Humana/complicações , Hepatite Viral Humana/patologia , Humanos , Fígado/enzimologia , Fígado/patologia , Fígado/ultraestrutura , Transplante de Fígado , Masculino , RecidivaRESUMO
Infantile myofibromatosis is the most common form of fibromatosis in children. It can be solitary, mainly affecting the bone or soft tissues, or multicentric with the possibility of visceral involvement. Solitary forms of visceral localization are exceedingly rare. The authors report the observation of a newborn female infant, with solitary jejunal infantile myofibromatosis which after reviewing relevant litterature on the subject appears to be the sixth case of its kind. This form must be considered in the differential diagnosis of the neonatal intestinal obstruction.
Assuntos
Fibroma/patologia , Neoplasias do Jejuno/patologia , Feminino , Fibroma/ultraestrutura , Humanos , Recém-Nascido , Neoplasias do Jejuno/ultraestrutura , Microscopia EletrônicaRESUMO
The authors describe an osteoid osteoma of the upper femoral epiphysis in a child of nine years. Healing was obtained after trans-articular curettage through an anterior approach. The authors have found no other similar case in the literature.
Assuntos
Neoplasias Femorais/diagnóstico , Osteoma Osteoide/diagnóstico , Criança , Epífises , Neoplasias Femorais/cirurgia , Cabeça do Fêmur , Humanos , Masculino , Osteoma Osteoide/cirurgiaRESUMO
Biological monitoring of early genotoxic effects in urothelial cells using the urinary micronucleus (MNu) assay is promising for early detection of cancer, such as bladder carcinoma. But many problems are encountered, the major being the poorly differential staining of cells, particularly in women having an important amount of squamous cells. We have optimized the protocol and obtained a differential staining of the cell types present in urine on 10 subjects. Following Carnoy I fixation and Papanicolaou staining, urothelial cells were blue while most squamous cells were pink. This differential staining allowed for optimization of the MNu assay on a single urine void, for both females and males. Even if our MNu means were comparable to the literature, the great variation in reported MNu results could reside in the ability of scorers to distinguish correctly between urothelial and squamous cells. When monitoring exposed populations, this erroneous distinction could largely influence the results, even more in women's urine samples. Given a situation where exposure would not increase micronuclei frequency in vaginal squamous cells, their erroneous analysis in the MNu assay could mask an early genotoxic effect. Therefore, as transitional cell carcinoma of the bladder originates from transformed urothelial cells, restricting micronuclei analysis to urothelial cells could yield a more precise estimate of cancer risk in exposed populations. Moreover, it is hoped that the improvements proposed in this paper will allow for an easier implementation of the MNu assay in various set-ups and enhance its specificity, since MNu are considered a suitable biomarker.