Messenger RNA encodes cellular function and phenotype. In the context of human cancer, it defines the identities of malignant cells and the diversity of tumor tissue. We studied 72,501 single-cell ...transcriptomes of human renal tumors and normal tissue from fetal, pediatric, and adult kidneys. We matched childhood Wilms tumor with specific fetal cell types, thus providing evidence for the hypothesis that Wilms tumor cells are aberrant fetal cells. In adult renal cell carcinoma, we identified a canonical cancer transcriptome that matched a little-known subtype of proximal convoluted tubular cell. Analyses of the tumor composition defined cancer-associated normal cells and delineated a complex vascular endothelial growth factor (VEGF) signaling circuit. Our findings reveal the precise cellular identities and compositions of human kidney tumors.
Embryonal precursors of Wilms tumor Coorens, Tim H H; Treger, Taryn D; Al-Saadi, Reem ...
Science,
12/2019, Letnik:
366, Številka:
6470
Journal Article
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Adult cancers often arise from premalignant clonal expansions. Whether the same is true of childhood tumors has been unclear. To investigate whether Wilms tumor (nephroblastoma; a childhood kidney ...cancer) develops from a premalignant background, we examined the phylogenetic relationship between tumors and corresponding normal tissues. In 14 of 23 cases studied (61%), we found premalignant clonal expansions in morphologically normal kidney tissues that preceded tumor development. These clonal expansions were defined by somatic mutations shared between tumor and normal tissues but absent from blood cells. We also found hypermethylation of the
locus, a known driver of Wilms tumor development, in 58% of the expansions. Phylogenetic analyses of bilateral tumors indicated that clonal expansions can evolve before the divergence of left and right kidney primordia. These findings reveal embryonal precursors from which unilateral and multifocal cancers develop.
Summary Prepubertal testicular and paratesticular tumours are a rare group of tumours, distinct from postpubertal paediatric and adult tumours of this region. Tumours within this group are testicular ...germ-cell tumours (such as benign teratoma, epidermoid cyst and malignant yolk-sac tumours) and stromal tumours (such as juvenile granulosa-cell, leydig-cell, and sertoli-cell tumours). Paratesticular tumours can be benign (lipoma, leiomyoma, haemangioma) or malignant (rhabdomyosarcoma, melanotic neuroectodermal tumour of infancy). Because of their rarity, centralised pathology and treatment, and national collaborative clinical trials have been important in establishing the optimum management of malignant tumours in this group. We provide an up-to-date and comprehensive review of the clinical presentation, imaging, pathology, and clinical management of prepubertal paratesticular and testicular tumours.
Background
To explore the association between patent urachus and bladder outflow obstruction (BOO). A retrospective review of patient records over a 35-year period (1983–2018) with complete patent ...urachus was performed. Antenatal ultrasound findings were noted, and postnatal investigations included ultrasound (US), micturating cystourethrogram (MCUG), functional nuclear medicine scans (MAG3, DTPA, and DMSA), and serum creatinine. Associated anomalies and management in all patients were analyzed.
Results
Sixty-six patients with all types of urachal remnants were identified of whom only 16 had a patent urachus. All presented clinically with a discharging umbilicus, 10/16 confirmed on MCUG and 4 had umbilical cord cysts on antenatal US. Twenty-five percent had associated bladder outlet obstruction (BOO): etiologies included atresia of posterior urethra, congenital urethral hypoplasia, urethral atresia with prune belly syndrome, and sacrococcygeal teratoma. Vesicoureteral reflux (VUR) was confirmed in 37%, and four of them had bladder outlet obstruction (BOO).
Conclusion
With patent urachus, bladder outflow obstruction occurs in the minority. Based on our findings, we commend US and cystogram to document VUR. The isolated PU should be treated nonoperatively up to a year of age. Renal function should be checked with the finding of VUR. The etiopathogenesis of the condition remains uncertain.
Context: Adolescents experience many types of gingival and periodontal diseases, including gingivitis, localized or generalized aggressive periodontitis, and periodontal complications of various ...systemic diseases. The occurrence of periodontal diseases is not only related to biotic factors but may also be affected by nonbiotic factors such as oral health behaviors and practices. Various factors that influence an individual's health-related behaviors include a psychosocial construct named sense of coherence (SOC). Aim: The aim of this study is to investigate the association of SOC with oral health behaviors and gingival bleeding. Settings and Design: This was a cross-sectional, analytical study that was done in the school setting. Materials and Methods: A random sample of 850 adolescents was selected from nine schools of the Faridabad block of Faridabad district (Haryana) through the multistage cluster sampling technique. Methods of data collection included a combination of questionnaire administration and clinical examination. The questionnaire comprised sociodemographic variables, questions related to oral health behaviors, and Antonovsky's SOC scale. The questionnaire was interviewer administered. Statistical Analysis: Unadjusted and adjusted rate ratios of gingival units having bleeding on probing were estimated by Poisson regression multilevel analysis in Statistical Package for the Social Sciences (SPSS) software for Microsoft Office. Results: Adolescents whose mothers had studied <8 years (relative risk RR 1.26; 95% confidence interval CI 1.04-1.38), who were males (RR 1.198; 95% CI 1.01-1.29), low SOC (RR 15.93; 95% CI 13.06-19.35), and toothbrushing frequency of less than once a day (RR 1.43; 95% CI 1.21-1.67) and children with plaque index >1 (RR 2.765; 95% CI 2.12-3.25) presented with the higher number of gingival units having bleeding. Conclusion: SOC is associated with gingival bleeding through oral health behaviors.
If brain dysfunction underlies OCD, decrements on neuropsychological tests should be found. 3 With this in mind, it is difficult to understand how people had neuropsychological deficits prior to ...developing OCD, when evidence suggests that children with OCD do not exhibit significant cognitive deficits early in the illness. There is not much evidence at present to show the effects of therapeutic interventions on neuropsychological deficits in OCD, 6 and if any, are they curative in order to avoid the illness in future? Neuropsychological study of frontal lobe function in psychotropic-naive children with obsessive-compulsive disorder.
Introduction. There is evidence that neurodevelopmental disorders are associated with chromosomal abnormalities. Current genetic testing can clinch an exact diagnosis in 20–25% of such cases. Case ...Description. A 3 years and 11 months old boy with global developmental delay had repetitive behaviors and hyperkinetic movements. He was stunted and underweight. He had ataxia, limb dyskinesia, triangular face, microcephaly, upward slanting palpebral fissure, hypertelorism, retrognathia, posteriorly rotated ears, long philtrum, thin lips, broad nasal tip, polydactyly, tappering fingers, and decreased tone in the upper and lower limbs with normal deep tendon reflexes. Magnetic resonance imaging of the brain, ultrasound of the abdomen, and ophthalmological evaluation were normal. Brain evoked response auditory revealed bilateral moderate hearing loss. He fulfilled the Diagnostic Statistical Manual 5 criteria for autism. In the Vineland Social Maturity Scale, his score indicated a severe delay in social functioning. His genetic evaluation included karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray analysis (CMA). The karyotype report from high-resolution lymphocyte cultures was mos 46, XY, der(3)t(3; 5)(p26; p15.3)50/46, XY,der(5) t(3;5) (p26;p15.3)50.ish. His karyotype report showed a very rare and abnormal mosaic pattern with two cell lines (50% each). Cell-line#1: 3pter deletion with 5pter duplication (3pter−/5pter+) and cell-line#2: 3pter duplication with 5pter deletion (3pter+/5pter−) derived from a de novo reciprocal translocation t(3; 5)(p26; p15.3) which was confirmed by FISH. The chromosomal microarray analysis report was normal. The two cell lines (50% each) seem to have balanced out at the whole genome level. Occupational, sensory integration, and behavior modification therapy were initiated for his autistic features, and anticholinergic trihexiphenidyl was prescribed for hyperkinetic movements. Conclusion. This case highlights a rare genetic finding and the need for timely genetic testing in a child with dysmorphism and autism with movement disorder to enable appropriate management and genetic counselling.
Holistic management of DSD Brain, Caroline E., MB, BS, MD, MRCP, FRCPCH; Creighton, Sarah M., MD FRCOG; Mushtaq, Imran, MB, ChB, FRCS (Glasg.), MD, FRCS (Paed.) ...
Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism,
04/2010, Letnik:
24, Številka:
2
Journal Article
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Disorder of sex development (DSD) presents a unique challenge, both diagnostically and in terms of acute and longer-term management. These are relatively rare conditions usually requiring a ...multidisciplinary approach from the outset and the involvement of a tertiary centre for assessment and management recommendations. This article describes the structure of the multidisciplinary team (MDT) at our centre, with contributions from key members of the team regarding their individual roles. The focus is on the newborn referred for assessment of ambiguous genitalia, rather than on individuals who present in the adolescent period or at other times, although the same MDT involvement is likely to be required. The approach to the initial assessment and management is discussed and the subsequent diagnosis and follow-up presented, with emphasis on the importance of careful transition and long-term support.
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