Retinoblastoma gene analysis in a patient with osteosarcoma following previous bilateral retinoblastoma

In a native osteosarcoma specimen of a patient cured of a bilateral retinoblastoma eight years before we found a homozygous deletion of a 7.5 kb Hind III-fragment within the retinoblastoma gene and a hemizygous deletion of the same fragment in its constitutional cells. In a native osteosarcoma tissue of a lung metastasis of a patient with sporadic osteosarcoma the Rb-gene-analysis did not reveal any deletion within the gene. This might be due to the fact that the used c-DNA-probe did not detect point mutations. Nevertheless, the possibility of additional or alternative transforming events should be kept in mind.     

Mature cystic teratoma of the pancreas in a child

A cystic pancreatic tumour is rare in a child and a mature cystic teratoma of the pancreas is even rarer. This is the first demonstration of the CT appearance of such a tumour in a child. We present a 2-year-old boy who presented with a palpable abdominal mass. Abdominal CT revealed a huge cystic mass in the upper abdomen. Pathology disclosed a mature cystic teratoma originating from the pancreas.     

Duration of fever prior to onset of a simple febrile seizure: a predictor of significant illness and neurologic course

This study tested the hypothesis that the duration of fever prior to the onset of a simple febrile seizure may be an important clinical variable with respect to patient outcome. The duration of fever prior to seizure according to patient history was defined as either long (greater than or equal to 24 hours) or short (less than 24 hours). We hypothesized that simple febrile seizures which occur with a history of a fever of long duration (LDF) are more likely to be associated with a significant illness at presentation or a subsequent neurologically abnormal course than are simple febrile seizures which occur with a history of a fever or short duration (SDF). Of 100 cases which met study criteria for simple febrile seizures, nine had a LDF and 91 had a SDF prior to the development of a seizure. No statistical differences in age, sex, maximum fever recorded in the emergency department, duration of seizure, WBC, or electrolytes were found between patients with SDF and LDF (P less than 0.01). Of the nine patients with a LDF, all had either a significant illness at the time of initial visit or a subsequent neurologically abnormal course. Of the 91 patients with a SDF, 88 had a good outcome, while two had a significant illness at the time of visit, and one had a subsequent neurologically abnormal course. These results suggest that children with a history of LDF prior to the occurrence of a simple febrile seizure are more likely to have a serious illness at presentation or a subsequent neurologically abnormal course than are children with seizures which occur with a history of SDF.     

Thermische Sch?digung nach unsachgem??er Spr��hdeoverwendung

Spraying of a deodorant within a distance of a few centimeters from the skin surface may cause a freeze burn in the affected area. Under laboratory conditions spraying of a thermometer (distance 5?cm) induced a decline in temperature of more than 60°C within less than 12?s. This case report of a teenager underlines a possible, although little known way of causing cutaneous damage by improper use of a deodorant spray.     

Test characteristics of the respiratory syncytial virus enzyme-linked immunoabsorbent assay in febrile infants < or = 60 days of age

The test characteristics of rapid tests for respiratory syncytial virus (RSV) in infants may differ from older children secondary to a lower likelihood of previous illness with RSV. Our main goal was to establish the test characteristics of the RSV Abbott Testpack (TP) enzyme-linked immunoabsorbent assay (EIA) in febrile infants < or = 60 days of age. Our secondary goal was to determine the likelihood of RSV given a particular clinical syndrome and a negative or positive EIA. A prospective sample of infants with a temperature > or = 38.0 degrees C was evaluated during 2 successive RSV seasons. Conventional tissue and shell vial viral cultures were utilized as the reference standard. The RSV Abbott Testpack EIA had a sensitivity of 75% (95% CI 60-90%), a specificity of 98% (95% CI 96-100%), a positive predictive value of 89% (95% CI 77-100%), a negative predictive value of 95% (95% CI 91-98%), a likelihood ratio for a positive test of 35.5 (95% CI 11.4-110.7), and a likelihood ratio for a negative test of 0.26 (95% CI 0.14-0.47). Even with a negative EIA, patients with lower and upper respiratory tract illness still had a 22.3% and 5.5% chance of harboring RSV, respectively. The RSV Abbott Testpack is a useful diagnostic tool in the detection of RSV in febrile infants but has limitations. During months typically associated with RSV disease, a positive RSV TP indicates a high likelihood of illness, but clinicians should be wary of false negatives.     

The victimization of children and youth: a comprehensive, national survey

This study examined a large spectrum of violence, crime, and victimization experiences in a nationally representative sample of children and youth ages 2 to 17 years. More than one half (530 per 1,000) of the children and youth had experienced a physical assault in the study year, more than 1 in 4 (273 per 1,000) a property offense, more than 1 in 8 (136 per 1,000) a form of child maltreatment, 1 in 12 (82 per 1,000) a sexual victimization, and more than 1 in 3 (357 per 1,000) had been a witness to violence or experienced another form of indirect victimization. Only a minority (29%) had no direct or indirect victimization. The mean number of victimizations for a child or youth with any victimization was 3.0, and a child or youth with one victimization had a 69% chance of experiencing another during a single year.     

The effect of maturation and sedation on amplitude-integrated electroencephalogram of the preterm neonate: results of a prospective study

Background and aim: Amplitude-integrated electroencephalogram (aEEG) is becoming more common in NICUs for monitoring infants after perinatal asphyxia. We used aEEGs for preterm infants, and analysed the influence of sedation and maturation on their aEEG, focusing on continuous activity. Methods: Weekly or biweekly aEEGs were performed in preterm infants and evaluated by visual analysis. Results: We analysed 92 aEEGs of 56 preterm infants (gestational age (GA) 24 + 6 to 34 + 0 wk, median 30 + 0 wk). In their first week of life, children with higher GA had a higher percentage of continuous activity: with a GA ≤ 28 + 0 wk it was 8.1%, 33.5% with a GA from 28 + 1 to 30 + 0 wk (p=0.02), 85.9% with a GA from 30 + 1 to 32 + 0 wk (p=0.005), and 89.1% with a GA from 32 + 1 to 34 + 0 wk. Continuous activity increased with growing postnatal age. With a GA ≤ 28 + 0 wk, it rose from 8.1% (first week) to 55.3% (second week) and reached 96.8% (week 6/7) (p=0.017). With GA from 28 + 1 to 30 + 0 wk, continuous activity was 33.5% (first week) and 86.6% (second week) (p=0.03).

Conclusion: The aEEG of preterm infants appears to be a good tool for monitoring cerebral activity. Continuous activity seems to indicate maturation in the neonatal brain. Further investigations of aEEGs in preterm infants should be performed.     

What does neutropenia tell about the existence of sepsis in the newborn? Predictive value of clinical laboratory tests

A laboratory test can have one of three different functions. As a confirmatory test it can prove a diagnosis, as a screening test it can indicate the probability, that a disease in question is actually present, and as a monitoring test it can be used to guide a medical therapy. To assess the clinical value of a screening test the criteria of sensitivity, specificity and predictive value are commonly used. The meaning of these terms is explained using the example of neutropenia as a screening test for sepsis on the first day of life. For the neonates admitted during their first day of life to the neonatology units of the obstetric and paediatric departments of Zurich University a neutrophil count below 3 X 10(9)/1 as a test for sepsis has a sensitivity of 67%, a specificity of 96.7%, a predictive value of the positive test of 20%, and a predictive value of the negative test of 99.6%. The predictive value of a test is strongly dependent on the prevalence of the disease looked for in the population under study. Variation of the cut off point of a screening test results in a change of its sensitivity and predictive value of the positive test in the opposite direction.     

Elevated Lp(a) with a small apo(a) isoform in children: risk factor for the development of premature coronary artery disease

Background: levels of Lp(a) and low‐molecular‐weight apolipoprotein(a) isoform are strongly associated with the development of early cardiovascular disease. Certain types of apo(a) isoforms in combination with elevated levels of Lp(a) may be important in the determining of premature coronary artery disease. Therefore, we investigated the association of familial history of premature coronary artery disease and apo(a) size and Lp(a) levels in children and adolescents with hypercholesterolemia using a novel method determining apo(a) isoforms. Methods and results: Isoforms were classified in six phenotype patterns: S1–S4, B, F and according to their K‐IV repeats. Apo(a) isoforms were divided into two groups: low‐molecular‐ and high‐molecular apo(a) isoforms. In subjects with double‐banded apo(a) isoforms containing a small‐ and a large‐isoform Lp(a) each contribution was based on the intensity of staining of the two bands. The percentage of patients with elevated levels of Lp(a) and a small apo(a) isoform (i.e. elevated small‐isoform Lp(a)) was 46% in the risk group and 20% in the control group, p < 0.05. The percentage number of children and adolescents with elevated Lp(a) levels was higher in the risk group, reaching statistical significance (p < 0.05). Conclusion: Elevated levels of small‐isoform Lp(a) might be a strong and independent risk factor for the development of premature coronary artery disease in children and adolescents with hypercholesterolemia.     

Sacrococcygeal heart: a very rare differentiation in teratoma.

A mature teratoma was identified in a two-month-old girl who was operated for a sacrococcygeal mass. The cystic components of the mass were accidentally opened during surgery, and a solid, rudimentary organ resembling a heart emerged. It had a vascular pedicle and a pulsation like cardiac activity different from the infant's heart rate. The mass was totally excised together with the coccyx, and in histological examinations, it was diagnosed as a mature teratoma and a rudimentary heart. To the best of our knowledge, the case presented in this report is only the second case of a cardiac development in a teratoma in the literature. In the light of data obtained about this case and related literature, we consider that fetus-in-fetu and teratoma may not be irrelevant entities, and that they possibly have the same developmental malformation. We also suggest that such an intermediate case is a combination of fetus-in-fetu and teratoma.     

Experimental design deck for clinical research: A new learning resource in aid of scientific thinking.

The Experimental Design Deck for Clinical Research is a simulation of a problem in experimental design in a card deck format. It is intended to stimulate the development of skills in scientific thinking by allowing the student, in a self-directed fashion, to design a clinical trial to test either a given hypothesis (specific deck) or a hypothesis that the player provides (general deck). In addition to its use as an educational tool, the Experimental Design Deck can be used as a guide to the application of scientific thinking in a variety of biomedical activities. It can easily be modified for application to problems in nonmedical research and evaluation.     

Phyllodes tumor of the breast in an 11-year-old child

The authors describe a case of cystosarcoma phylloides of the breast in an 11-year-old girl. The clinical examination showed a voluminous painless tumour which had grown rapidly. Mammography revealed a dense imaging of this tumour with a 6 cm diameter. Surgical removal preserved the healthy tissues and gave a good morphological result. The histologic examination confirmed a double component phylloid tumour with a predominant mesenchymatous part.     

输尿管镜术治疗学龄前儿童输尿管中下段结石

目的 评价输尿管镜取石术治疗学龄前儿童输尿管中下段结石的疗效与安全性。方法 2001年2月-2006年4月，13例学龄前儿童输尿管中下段结石患儿接受不同方式输尿管镜术治疗，回顾性分析其临床资料。结果 13例患儿中，1例输尿管末端结石患儿逆行入镜及置入导丝失败改开放手术，2例行Ⅰ期6．5／8．5Fr输尿管半硬镜下钬激光碎石，2例行Ⅰ期硬性扩张后8／9．8Fr输尿管硬镜取石，1例行Ⅰ期气囊扩张后8／9．8Fr输尿管硬镜下取石，7例Ⅰ期输尿管置管被动扩张1～3周后，Ⅱ期8／9．8Fr输尿管硬镜下取石。12例息儿共接受19次输尿管镜术，结石全部取出，无输尿管穿孔等严重并发症。随访3～12个月，4例（1例I期硬性扩张，3例置管被动扩张）患儿接受排尿性膀胱造影未见膀胱输尿管反流，5例（2例Ⅰ期6．5／8．5Fr输尿管半硬镜下钬激光碎石术，3例Ⅰ期置管被动扩张）行静脉肾盂造影未见输尿管开口狭窄及肾积水。结论 输尿管镜术治疗学龄前儿童输尿管中下段结石直接明了，安全有效，作为ESWL的有益补充。     

The relation between child death and child maltreatment.

The death of a child is a sentinel event in a community, and a defining marker of a society's policies of safety and health. Child death as a result of abuse and neglect is a tragic outcome that occurs in all nations of the world. The true incidence of fatal child abuse and neglect is unknown. The most accurate incidence data of such deaths have been obtained from countries where multi-agency death review teams analyse the causes of child fatalities, as is done in the United States and Australia.     

Perianal rhabdomyosarcoma presenting 21?months after hamartoma excision

Perianal rhabdomyosarcoma is a rare type of tumor with a relatively poor prognosis. We present the case of a patient who presented with a cutaneous perianal hamartoma at the age of 6 weeks. 21 months latter a recurrent mass at the excision site proved to be an embryonal rhabdomyosarcoma involving the anal sphincter. A pathologic review of the two specimens confirmed their relatedness. This report highlights the need to maintain a high level of suspicion in cases of recurrence following excision of a benign lesion.     

Rare association in a female DSD case of phallus,accessory phallic urethra,perineal lipoma and anterior ectopic anus

Disorders of sex differentiation (DSD) are a heterogenous and broad spectrum group of diseases with a varied appearance. Presence of an accessory phallus with a phallic urethra in association with a normal vagina in a female is an extremely uncommon anomaly. We present a rare case of a genotypically female child with a normal urethra and vagina in association with a phallus, accessory phallic urethra, perineal lipoma and anterior ectopic anus.     

Presence and characteristics of medical home and health services utilization among children with asthma.

INTRODUCTION: Having a medical home is advocated by the National Association of Pediatric Nurse Practitioners and others, yet there is limited research that documents desired health benefits. We examine the presence of medical home characteristics and describe relationships between medical home and health services utilization in a national sample that includes children with asthma. METHOD: Medical home is represented by: (a) the presence of a usual source of care (USC), (b) identification of a named person as USC, and (c) a 10-item index of other medical home characteristics. Health services utilization over a calendar year is measured by (a) emergency department visits for asthma, (b) wellness examination, and (c) rescue bronchodilator fill/refill. Analyses include chi-square and logistic regression. RESULTS: A USC was reported for 95% of participants. Children with a USC were more likely to have a wellness examination (odds ratio, 2.10; 95% confidence interval, 1.15-3.81). Overall, 51% reported the USC to be a facility versus a named person. Identifying a person as the USC was related to higher scores on the 10-item medical home index but not to other outcomes. DISCUSSION: Most parents were satisfied with the USC. Benefits of having a USC, but not necessarily a named person, appear in preventive actions.     

Cutaneomeningospinal angiomatosis (Cobb syndrome) with tethered cord.

A newborn presented with a skin-covered lumbar mass with a subcutaneous hemangioma and on a magnetic resonance image (MRI) revealed a tethered spinal cord with a local mass. The mass had signal characteristics compatible with a lipoma. An initial diagnosis of a lipomeningocele with tethered cord was made, and the patient underwent surgical exploration and subtotal resection of the mass. A follow-up MRI revealed that the cord was still tethered, but an additional mass was present. The initial mass with signal characteristics of lipomatous tissue was accompanied by a low-signal mass in the lumbosacral canal, ventral to the cord, and bilateral enlargement of the foramina at the lumbosacral level. Because of a concern for an intraspinal tumor, a second operative intervention was performed. Multiple biopsies of the mass inside the spinal cord, the nerve roots and at the level of the foramina revealed angiomas that had similar pathology in all the specimens. A partial resection of the masses and a release of the tethered cord was performed by sectioning the thickened filum terminale. The diagnosis of Cobb's syndrome was made. The unique association of a tethered cord and the Cobb syndrome is reported here.