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    Cystic dyplasia of the rete testis (CDRT) is an uncommon, generally unilateral lesion characterized by anastomosing cystic spaces lined by a flattened simple cuboidal epithelium in the rete testis. In the literature this lesion often is... more
    Cystic dyplasia of the rete testis (CDRT) is an uncommon, generally unilateral lesion characterized by anastomosing cystic spaces lined by a flattened simple cuboidal epithelium in the rete testis. In the literature this lesion often is associated with an ipsilateral urogenital lesion such as renal agenesia or multicystic dysplasia of the kidney, in order of frequency. The pathogenesis is explained by some authors by their common embryologic origin. We are reporting the finding of bilateral CDRT associated with ultrasound-diagnosed renal adysplasia in a 20-week gestational age fetus with oligohydramnios. Although CDRT has been referred to as being associated with multicystic renal dysplasia or renal agenesis, the present case appears to be unique in combining all the malformations together.
    Mesothelial inclusion cysts represent benign lesions that have been reported in a wide variety of locations. Peritoneal cysts are observed and visceral involvement has been described, notably of intraperitoneal organs such as the spleen... more
    Mesothelial inclusion cysts represent benign lesions that have been reported in a wide variety of locations. Peritoneal cysts are observed and visceral involvement has been described, notably of intraperitoneal organs such as the spleen and the testis. We report the cases of 2 neonates who underwent surgical management of an omphalocele. The hernial sac contained an accessory liver lobe, displaying in both cases multilocular mesothelial inclusion cysts. The hobnail cells lining the cysts exhibited calretinin and cytokeratin immunohistochemical reactivity, as well as focal D2-40 reactivity. One of the cases occurred in the setting of a Beckwith-Wiedemann syndrome (MIM 130650), an overgrowth disorder notably associated with omphalocele and hepatic anomalies and tumors. However, no hepatic mesothelial cyst has been described in this syndrome. In the 2nd case the omphalocele and the hepatic cysts were the sole lesions observed in the neonate. To the best of our knowledge, these 2 cases represent the first description of such an association.
    BackgroundCongenital lobar emphysema (CLE) is characterized by unilobar alveolar distension secondary to bronchomalacia or absent cartilage. In contrast, congenital pulmonary lymphangiectasis (CPL) is defined as distended lymphatics in... more
    BackgroundCongenital lobar emphysema (CLE) is characterized by unilobar alveolar distension secondary to bronchomalacia or absent cartilage. In contrast, congenital pulmonary lymphangiectasis (CPL) is defined as distended lymphatics in the bronchovascular bundle, in the interlobular septa, and in the subpleural space. Little information is available regarding the radiologic presentation of CLE as it correlates with histological diagnosis.
    To study and compare the effectiveness of p16(INK4a) staining and specific human papillomavirus (HPV) subtypes as a prognostic marker in cervical intraepithelial neoplasia grade 1 (CIN1; low-grade squamous intraepithelial lesions).... more
    To study and compare the effectiveness of p16(INK4a) staining and specific human papillomavirus (HPV) subtypes as a prognostic marker in cervical intraepithelial neoplasia grade 1 (CIN1; low-grade squamous intraepithelial lesions). Sixty-four cervical samples diagnosed as CIN1 and stained with p16(INK4a), with HPV status assessed by polymerase chain reaction-direct sequencing. Of the 34 p16(INK4a)-negative biopsy specimens, 26 regressed, seven persisted, and one progressed. Of the 20 p16(INK4a) diffusely positive biopsy specimens, seven regressed, eight persisted, and five progressed. Ten biopsy specimens stained positive only in the lower one-third of the sample, of which seven regressed and three persisted. p16(INK4a) diffusely positive CIN1 lesions were associated with only high-risk HPV subtypes, with the exception of one HPV-negative biopsy specimen. Three different high-risk HPV subtypes and one low-risk HPV subtype (HPV66) were identified in the six CIN1 lesions that progressed. There is a significant relationship between p16(INK4a) immunostaining and follow-up (P = .002). p16(INK4a)-negative specimens or positivity in the lower one-third of CIN1 lesions seldom progress to a CIN2-3 lesion.
    Background/Purpose: Although medullary thyroid carcinoma (MTC) can occur sporadically, in the pediatric population it is most often associated with the multiple endocrine neoplasia syndrome (MEN type 2). Traditional screening was based on... more
    Background/Purpose: Although medullary thyroid carcinoma (MTC) can occur sporadically, in the pediatric population it is most often associated with the multiple endocrine neoplasia syndrome (MEN type 2). Traditional screening was based on evaluation of basal and stimulated serum calcitonin levels. The recent cloning of the MEN2 gene on the RET proto-oncogene of chromosome 10 now allows for testing of gene
    Progressive transformation of germinal center (PTGC) is a pattern of lymph node reactive hyperplasia. It can also be the predominant pattern in a hyperplastic lymph node known as florid PTGC. It is characterized histologically by the... more
    Progressive transformation of germinal center (PTGC) is a pattern of lymph node reactive hyperplasia. It can also be the predominant pattern in a hyperplastic lymph node known as florid PTGC. It is characterized histologically by the expansion of the mantle zone lymphocytes into both the adjacent sinusoids and germinal centers. The lymphocytes destroying the germinal centers are predominantly B cells, with a minor population of T cells. Morphologically, it can be confused with nodular lymphocyte-predominant Hodgkin disease (NLPHD) because of its nodular pattern and because of the presence of large cells that can be incorrectly identified as lymphocytic and histiocytic cells. A relationship between PTGC and NLPHD remains unclear, and many authors have suggested that PTGC can represent a precursor lesion of NLPHD. Here we report the first karyotype obtained in PTGC, in a 12-year-old boy. It shows a t(3;22)(q27;q11) translocation, probably involving the BCL6 gene. This translocation has previously been described in diffuse large B-cell lymphomas and in NLPHD with BCL6 rearrangement. This finding offers an insight into a possible tumorigenic pathway from PTGC to NLPHD. Further studies will be required to confirm this hypothesis.
    The objectives of this study were to delineate the clinical characteristics of a hospital-referred pediatric population infected with anogenital warts and to investigate the possible relationships between human papillomavirus types and... more
    The objectives of this study were to delineate the clinical characteristics of a hospital-referred pediatric population infected with anogenital warts and to investigate the possible relationships between human papillomavirus types and the identified clinical characteristics. Over a 7-year period, 72 patients under the age of 12 years were seen at our dermatology clinic for anogenital warts, corresponding to a prevalence of 1.7/1000 in our patient population. Sixty-four percent (46/72) were girls. Congenital, prenatal, ascending infections occurred in two subjects. The onset of anogenital warts occurred before age 2 in 28% and between 2 and 6 years of age in 62% of children and tended to be younger in boys. We identified unusual cutaneomucosal serotypes human papillomavirus 7 and 57 (three and eight instances, respectively). The modes of transmission of anogenital warts in children cannot be identified either by the clinical appearance of the lesions or by human papillomavirus typing. We conclude that the best way to identify possible sexual abuse is still by history taking, careful assessment of the socio-clinical context, and physical examination.
    The association of pleuropulmonary blastoma and cystic nephroma is an uncommon entity, with only 4 cases of such an association in the same patient described in English literature. We report a 5th histologically documented case in a... more
    The association of pleuropulmonary blastoma and cystic nephroma is an uncommon entity, with only 4 cases of such an association in the same patient described in English literature. We report a 5th histologically documented case in a 32-month-old boy. The boy underwent a pulmonary biopsy that showed a pleuropulmonary blastoma and a nephrectomy that showed a cystic nephroma. The pleuropulmonary mass showed an important regression with postbiopsy chemotherapy, allowing subsequent tumorectomy. To date very little is known about this rare entity, and a genetic link between these 2 tumors is hypothesized.
    Mesothelial inclusion cysts represent benign lesions that have been reported in a wide variety of locations. Peritoneal cysts are observed and visceral involvement has been described, notably of intraperitoneal organs such as the spleen... more
    Mesothelial inclusion cysts represent benign lesions that have been reported in a wide variety of locations. Peritoneal cysts are observed and visceral involvement has been described, notably of intraperitoneal organs such as the spleen and the testis. We report the cases of 2 neonates who underwent surgical management of an omphalocele. The hernial sac contained an accessory liver lobe, displaying in both cases multilocular mesothelial inclusion cysts. The hobnail cells lining the cysts exhibited calretinin and cytokeratin immunohistochemical reactivity, as well as focal D2-40 reactivity. One of the cases occurred in the setting of a Beckwith-Wiedemann syndrome (MIM 130650), an overgrowth disorder notably associated with omphalocele and hepatic anomalies and tumors. However, no hepatic mesothelial cyst has been described in this syndrome. In the 2nd case the omphalocele and the hepatic cysts were the sole lesions observed in the neonate. To the best of our knowledge, these 2 cases represent the first description of such an association.
    The Galloway-Mowat syndrome (GMS) (MIM251300) is described as an autosomal recessive disorder, the gene of which has not yet been identified. We report the case of a boy presenting with an early nephrotic syndrome, microcephaly, seizures,... more
    The Galloway-Mowat syndrome (GMS) (MIM251300) is described as an autosomal recessive disorder, the gene of which has not yet been identified. We report the case of a boy presenting with an early nephrotic syndrome, microcephaly, seizures, and psychomotor retardation. He died at 3 years and 11 months in a context of end-stage renal function consistent with a GMS. He was the second child of a non-consanguineous marriage. There was no family history of nephrotic syndrome or end-stage renal failure, but his mother had a moderate mental retardation complicated by seizures. He presented dysmorphologic features, including micrognathia and large and floppy ears. Renal biopsy showed a focal segmental glomerulosclerosis with a collapsing glomerulopathy and abundant visceral epithelial cell proliferation. The majority of the glomeruli were sclerotic. We report the first case of GMS associated with a collapsing glomerulopathy.
    Neuroblastoma is a paediatric solid tumour with a poor outcome except in children... more
    Neuroblastoma is a paediatric solid tumour with a poor outcome except in children <1 year old. Based on catecholamine urinary excretion, mass screening (MS) programmes have been organized but failed to decrease the mortality of this tumour. To test the hypotheses of a spontaneous maturation/differentiation or regression, the levels of poly (ADP-ribose) polymerase (PARP)-1, an early apoptosis marker, of PhosphoAKT, a major apoptosis inhibitor, and of maturation/differentiation were compared in standard and in MS neuroblastomas. We performed a case-control study of 55 primary tumours and 21 metastases of MS neuroblastomas. Matched controls were standard unscreened neuroblastomas and were paired according to age, stage, and MYCN amplification. The tumours were included in tissue microarrays. Immunohistochemical staining was performed using antibodies against, AKT, phosphoAKT, TRKB and PARP-1. The expression of PARP-1 and that of phosphoAKT were significantly higher in standard than in MS neuroblastomas independently of age and stage of the tumour. PhosphoAKT and PARP-1 expression was significantly correlated in both tumours. These data suggest that the better prognosis of patients with MS neuroblastomas compared with classical neuroblastomas was secondary to spontaneous tumour regression mediated by higher levels of apoptosis associated with low activation of AKT.
    The completion of the Human Genome Project has increased the pace of discovery of genetic markers for disease. Despite tremendous efforts in fundamental research, clinical applications still lag behind expectations, partly due to the lack... more
    The completion of the Human Genome Project has increased the pace of discovery of genetic markers for disease. Despite tremendous efforts in fundamental research, clinical applications still lag behind expectations, partly due to the lack of effective tools to systematically search for and summarize published data relative to the clinical assessment of new diagnostic molecular tests. Through a collaborative process using published tools and an expert panel, we developed a detailed checklist of the evidence that needs to be collected or produced to evaluate the potential usefulness of a new molecular diagnostic test. This tool is called GETT, for Genetic testing Evidence Tracking Tool. GETT allows 1) researchers to summarize the current evidence and to identify knowledge gaps for further research and; 2) stakeholders to collect data related to a given molecular test and improve their decision-making process. GETT comprises 72 clearly defined items/questions, grouped into 10 categories and 26 sub-themes, including an overview of disease epidemiology and genetics, the available diagnostic tools, and their analytical and clinical performances, availability of quality control programs, laboratory and clinical best practice guidelines, clinical utility, and impact on health care and psycho-social, ethical and legal implications. It also includes a summary of the evidence available and attempts to prioritise knowledge gaps related to the testing. We also compare GETT to other existing frameworks. This systematic evidence-based tracking tool, which is more detailed than existing frameworks and provides clear definition for each item, will help streamline collection of the available evidence to appraise the potential for clinical application of new molecular diagnostic tests and prioritize research to produce the evidence-base relative to the clinical implementation of molecular diagnostic tests.
    Papillomaviruses consist of more than 130 viral types described so far. Most of them are human papillomaviruses (HPV) of supergroup A, demonstrating ano-genital tropism and characterized as etiological agents for benign and malignant... more
    Papillomaviruses consist of more than 130 viral types described so far. Most of them are human papillomaviruses (HPV) of supergroup A, demonstrating ano-genital tropism and characterized as etiological agents for benign and malignant cervical lesions in women. A PCR-direct sequencing (PCR-DS) approach with P-33 labeled dideoxynucleotides was used to detect and type human papillomaviruses in cervical biopsies. One novel sequence was identified in a LSIL (low-grade squamous intraepithelial lesions) specimen from an HIV-positive English Canadian patient. The structure of the viral gene L1 was determined, yielding a putative novel HPV type of supergroup A (clade A8) named JC9813.