KCNQ1OT1 hypomethylation: A Novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?

Pediatric adrenal tumors, other than neuroblastoma, are rare and can be associated with a genetic predisposition. In this report we describe two patients with an isolated and apparently sporadic adrenocortical tumor; one girl with a carcinoma, the other girl with an adenoma. In both patients genetic screening revealed hypomethylation of the KCNQ1OT1 gene, well-known for its association with the Beckwith-Wiedemann syndrome. This represents a likely novel genetic predisposition in patients with adrenocortical tumors without clear phenotypic features of the Beckwith-Wiedemann syndrome.     

DYSGERMINOMA IN A CHILD WITH ATAXIA–TELANGIECTASIA

Ataxia–telangiectasia is an autosomal recessive disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, high incidence of cancer, and increased sensitivity to ionizing radiation. The authors report a case of dysgerminoma in a child with high α-fetoprotein, CA125 and β-human chorionic gonadotropin, who has been followed-up for ataxia–telangiectasia for 2 years.     

A case–control study of risk factors for severe hand–foot–mouth disease among children in Ningbo, China, 2010–2011

Background

A small fraction of hand–foot–mouth disease (HFMD) progression from the onset of severity to fatality may be remarkably rapid. Early recognition of children at risk of severity is critical to increase treatment effectiveness and reduce acute mortality.

Methods

A frequency-matched case–control study was conducted between January 2010 and June 2011 in Ningbo to identify risk factors associated with the occurrence of severity in children with HFMD. Data including demographic characteristics, clinical features, and laboratory test results were collected by trained interviewers through retrospective medical record review and/or face-to-face interviews with children’s parents using a standardized questionnaire.

Results

Eighty-nine cases with severe HFMD and 267 controls with mild HFMD were recruited in this study. Palm rashes (OR?=?0.004, 95%CI?=?0.000–0.039, p?p?p?=?0.030), leg trembling (OR?=?29.008, 95%CI?=?1.535–548.178, p?=?0.025), papule rash (OR?=?4.622, 95%CI?=?1.110–19.252, p?=?0.035), a raised WBC count?>?10.8?×?10⁹/L (OR?=?4.495, 95%CI?=?1.311–15.415, p?=?0.017), and human enterovirus 71 infection (OR?=?39.172, 95%CI?=?9.803–156.522, p?Conclusion Clinicians should pay increased attention to children diagnosed as HFMD with the independent risk factors above.     

Leukocyte aggregation-related pseudoleukopenia in pediatrics: a sporadic event or a systematic error?

OBJECTIVE: To determine whether electronic counter-related pseudoleukopenia is a rare phenomenon or a systematic underestimation in children with acute infection/inflammation. METHODS: We have used a simple slide test and image analysis to reveal the number of white blood cells and their degree of aggregation. The number of leukocytes counted by an electronic cell analyzer was divided by the number of cells counted on the slides creating an electronic cell-to-slide leukocyte count ratio. RESULTS: A significant (P < 0.0005) negative (r = -0.314) correlation between the above mentioned ratios and the percent of aggregated leukocytes in the peripheral blood was found in a group of 239 children with various acute infections. Thus elevated leukocyte aggregation is associated with a relatively lower electronic analyzer cell count. CONCLUSIONS: The appearance of aggregated leukocytes in the peripheral blood during acute infections might be associated with pseudoleukopenia. This phenomenon has been extensively described in the adult population and seems to exist in children as well.     

Pulse polio immunization in Delhi—1995–96: A survey

A coverage evaluation survey of the campaign for mass Pulse Polio Immunization (PPI) on 9th December, 1995 and 20th January, 1996 in Delhi was carried out using the modified cluster sampling technique and a pre-structured proforma. Six-hundred-and-nine children of under-3 age group were covered in the survey. Overall coverage for both the doses was found to be 77% While coverage for 9th December dose was found to be 80%, it rose to 90.2% on 20th January, 1996. Coverage levels for male and female children were similar. Parental literacy was seen as a definite factor, positively affecting the coverage levels. Proportion of not covered under PPI was significantly higher in the 0–6 months age group. Television and health workers were found to be the main sources of awareness about PPI.     

Acquired brain injury in children,and their rehabilitation: where we are now?

Acquired brain injury (ABI) in children and young people is the leading cause for mortality and acquired disability worldwide. It is often mistaken that neuroplasticity gives an undue advantage to children to recover better than adults following a brain injury. Brain injury sustained at a young age disrupts brain maturation and ongoing development. Good motor recoveries can mask the residual neuropsychological and cognitive issues which can affect the child's quality of life and educational attainment and this may have a significant impact on his/her family. Families play a key role in rehabilitation post-brain injury and should partner with health professionals in goal-setting and treatment planning. The current emphasis is on effective interdisciplinary team work, collaboratively identifying and working on child and family focussed goals. In rehabilitation, the International Classification of Functioning (ICF) provides a holistic framework to consider contextual factors and the interaction between an individual and their environment. Contemporary rehabilitation approaches reflect goal directed and evidence based therapeutic interventions which target the ICF domains of activity and participation in order to support children and young people to return to their home, school and community. This article briefly reviews the current knowledge offering practical advice to paediatricians and allied health professionals who may be involved with the care of children with ABI.     

Acquired rectal fistula in human immunodeficiency virus-positive children: a causal or casual relationship?

Acquired rectal fistula in human immunodeficiency virus (HIV)-positive children is a new and worrisome entity. The aim of this paper is to highlight the relationship between HIV infection and acquired rectal fistula (RF) in children in order to create awareness among clinicians who attend to children. Over a 1-year period, 11 girls aged 4 weeks-11 months (median 5 months) with acquired RF were managed at our institution. Ten were HIV-positive by enzyme-linked immunosorbent assay and confirmed by Western blot test. One child defaulted before the test. All the mothers and three fathers of the 10 children were seropositive for HIV. Bronchopneumonia, otitis media, oral thrush, diarrhoea, and lymphadenopathy were common associations. Treatment was essentially conservative because the result of surgical intervention was disappointing. Two of the infants and one of the fathers are now dead from full-blown acquired immunodeficiency syndrome. Acquired RF seems to be a sign of HIV infection in children. It will be necessary to screen any child presenting with acquired RF for HIV infection.     

A familial WT1 mutation associated with incomplete Denys–Drash syndrome

Denys–Drash syndrome (DDS) is a rare disorder characterized by nephropathy, male pseudohermaphroditism, and wilms tumor. Cases are thought to arise sporadically through a de novo mutation in the wilms tumor suppressor gene (WT1), which encodes a zinc finger protein that not only acts as a tumor suppressor but is essential for normal gonadogenesis, nephrogenesis, and development of the urogenital tract. In this report, we describe a family with the well-known missense mutation in exon 9 of the WT1 gene, 1180C>T (R394W), causing incomplete DDS and no symptoms in their father. The proband, a boy with 46, XY karyotype, was born with ambiguous genitalia, penoscrotal hypospadias, and bilateral inguinal hernias. At 2 years of age, he has proteinuria and diffuse mesangial sclerosis, but no wilms tumor has been detected. The elder sister of the proband, at 3 years of age, has normal genitalia, proteinuria, focal mesangial sclerosis but no wilms tumor. The WT1 mutation was detected in both patients, who have suspected DDS, and their father, who is phenotypically normal. Conclusion: This case is unusual in that the 1180C>T mutation, which has been found in approximately 50 % of patients with complete DDS, has been inherited and is causing mild or no symptoms of DDS.