Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound.

Walker-Warburg syndrome (WWS) is a rare, lethal autosomal recessive disorder characterized by congenital muscular dystrophy and brain and eye anomalies. A prenatal finding of hydrocephalus associated with posterior fossa anomalies and/or encephalocele is nonspecific, whereas additional ocular anomalies are typical for WWS. We report a fetus of consanguineous parents found to have encephalocele at US in week 15 of gestation. The parents did not wish to terminate the pregnancy. Follow-up US revealed bilateral abnormal ocular echoic structures suggesting a major form of persistent primary vitreous. WWS was suspected. The POMT2 mutation confirmed this diagnosis. In hydrocephalus associated with posterior fossa anomalies and/or encephalocele, we recommend detailed US examination of the fetal eyes. Ocular anomalies in this context strongly suggest WWS.

ESPR uroradiology task force and ESUR paediatric working group: imaging recommendations in paediatric uroradiology, part IV: Minutes of the ESPR uroradiology task force mini-symposium on imaging in childhood renal hypertension and imaging of renal trauma in children.

Two new recommendations of the European Society of Radiology task force and the European Society of Uroradiology workgroup on paediatric uroradiology are presented. One deals with diagnostic imaging in children after trauma to the urinary tract-renal trauma, in particular. The other concerns the evaluation of suspected renal hypertension. Available data in the paediatric literature are either unsatisfactory or controversial for both of these clinical settings. Therefore, the following consensus-based proposals aim at outlining effective imaging algorithms to reduce invasive imaging procedures while optimising diagnostic accuracy. The objective of following a more uniform imaging approach is to facilitate future meta-analysis as well as multicentre and other more evidence-based studies. The practise in paediatric radiology is typically based on local availability and on the limitations of professional expertise and equipment, balanced against the perceived needs of the individual child. Although this is unlikely to change in the near future, it does not release the physicians in charge of diagnostic imaging from their responsibility in choosing and providing state-of-the-art imaging and management protocols that are adapted specifically for use in children.

[Functional MR urography in children]. / Uro-IRM fonctionnelle chez l'enfant.

MR Urography (MRU) provides both morphologic and functional information without radiation exposure. It enables the assessment of split renal function, excretion, and quantification of obstruction. MRU is thus complementary to ultrasonography in the assessment of pre- and post-natal obstructive uropathies in children. If available, MRU should be definitely preferred to intravenous urography.

Retropharyngeal lipostructure in the treatment of velopharyngeal insufficiency: A prospective study and update.

INTRODUCTION: Retropharyngeal lipostructure is a recent procedure in velopharyngeal insufficiency (VPI), offering an effective alternative to heavier surgery. OBJECTIVES: To update and assess retropharyngeal lipostructure as a treatment for VPI in the University Hospital Center of Rouen (France). TYPE OF STUDY: Single-center prospective study, from May 2012 to May 2014. PATIENTS AND METHODS: Six patients (4 girls, 2 boys) presenting with VPI were treated by retropharyngeal lipostructure. Age at surgery ranged between 6 and 12 years. Four of the patients bore a 22q11 microdeletion. Treatment was indicated in case of Borel-Maisonny type 2b (n=2) or 2m (n=4) despite well-conducted speech therapy and of≥50% velopharyngeal sphincter closure on nasal endoscopy. Patients were assessed preoperatively and at 3 months, by a multidisciplinary team. Borel-Maisonny type was assessed by a speech therapist. Nasality was measured on assisted vocal evaluation (EVA®). Sphincter closure was assessed on dynamic MRI. RESULTS: Between 6 and 8cm3autologous fat was injected. At 3months, 4 children showed 1-grade improvement in Borel-Maisonny type. Nasality decreased systematically, from a mean 14.5% preoperatively to 10.5% postoperatively. MRI showed improvement in all cases, with complete closure in occlusive vowels in 3 children. CONCLUSION: EVA® and MRI provide precise objective assessment of VPI. Retropharyngeal lipostructure is a simple, relatively non-invasive, reproducible technique, providing good results in VPI.

[Thrombosed scapular intramuscular venous malformation: A pediatric case report]. / Malformation veineuse intramusculaire scapulaire thrombosée : à propos d'un cas chez un enfant.

Venous malformation (VM) is a frequent soft tissue mass in children that should not be confused with vascular tumors. We report the case of a 10-year-old boy with a bulky thrombosed VM of the shoulder with functional disability. D-dimer levels were high. Pathognomonic phleboliths were demonstrated on conventional x-rays. Echo-doppler confirmed the venous nature of the lesion and areas without flow suspicious for thrombosis. MRI provides the deep extension and can show non-calcified thrombi that are difficult to see with ultrasound. Localized intravascular coagulopathy is often associated with thrombosis phenomena and has to be confirmed by measurement of D-dimer levels in order to initiate anticoagulation quickly with low-molecular-weight heparin. Follow-up includes measurement of D-dimer levels and potentially MRI to evaluate the anticoagulation efficacy and tailor treatment duration.

Circulating IgA-Lp complexes in Watanabe heritable hyperlipidemic and cholesterol fed NZW rabbits.

Auto-immune immunoglobulin-lipoprotein complexes (Ig-Lp), as well as other modified lipoproteins, are activators of the transformation of macrophages into foam cells which may be the first step in atherogenesis. In humans circulating Ig-Lp have been demonstrated in autoimmune hyper- or dyslipidemia (AIH, DIH) and found to be associated with conditions related to atherosclerosis. Thus Ig-Lps may be significant and potentially primary atherogenic factors. In order to test this hypothesis we compared the distribution of Ig-Lps in 14 WHHL homozygote rabbits and in 15 normal fed and 8 cholesterol-fed NZW rabbits, all males aged 4-6 months. The Ig-Lps were detected by ELISA using 2 different capture anti-Lp and 4 indicator antibodies specific for either total Igs or the IgA, IgM or IgG classes. Some Ig-Lp of all classes were found in normal fed NZW. As compared with these normal levels, IgA-Lp are increased 2.5-fold in both the WHHL and the cholesterol-fed NZW rabbits (P = 0.0002). During cholesterol feeding the increase of IgA-Lp and total cholesterol and their decrease after returning to a normal diet were parallel in NZW rabbits, but their variation was mainly independent. IgM-Lp was also increased, but to a much lesser extent, in WHHL and in cholesterol-fed NZW. IgG-Lp was not increased in WHHL and only moderately increased in some of the cholesterol-fed NZW. The WHHL and the cholesterol-fed NZW rabbits did not differ by the IgA-Lp content of the serum, but the level of IgM-Lp was higher in the former.(ABSTRACT TRUNCATED AT 250 WORDS)

Immunoglobulin-bound lipoproteins (Ig-Lp) as markers of familial hypercholesterolemia, xanthomatosis and atherosclerosis.

In autoimmune hyper- or dislipidemia secondary to a monoclonal antilipoprotein gammapathy, immunoglobulin-lipoprotein (Ig-Lp) complexes are found in the circulating blood. In order to determine their possible significance in common types of hyperlipidemia we compared the Ig-Lp content of sera from 98 healthy blood donors and 155 outpatients from a Lipid Clinic, including 91 cases of hypercholesterolemia (55 familial and 36 non-familial), 15 cases of hypertriglyceridemia, 20 cases of mixed hyperlipidemia and 29 miscellaneous cases. Detection of the Ig-Lp was performed by an ELISA technique with polyclonal affinity purified anti-LDL + HDL as capture antibodies and peroxidase-labeled anti-Ig antibodies specific for IgA, IgG, IgM heavy chains as indicators. Two cases of monoclonal gammapathy (one IgA K and one IgG L) with dislipidemia served as positive controls for the test. IgG, IgA and IgM Lp were found in the sera of the blood donors, in very small quantities when compared with the monoclonal gammapathy cases. All three types of Ig-Lp were also found in the different hyperlipidemic populations studied. When blood donors were compared to hyperlipidemic patients, no difference was observed for IgG Lp. A significant increase in IgM Lp was found in patients with familial hypercholesterolemia (P less than 0.01). An increase in IgA Lp was also found in hypercholesterolemia, familial or not (P less than 0.01), and in patients with corneal arcus (P less than 0.0001), ischaemic disease (P less than 0.01), tendon xanthomas (P less than 0.05) or xanthelasma (P less than 0.05). Furthermore, in a group of 18 paired parents from 9 different families, positive interparent correlations were found for IgM Lp (r = 0.78; P = 0.013) and IgG Lp (r = 0.69; P = 0.038). Therefore IgM Lp may be markers for subpopulations of familial hypercholesterolemia, and IgA Lp markers for the risk of atherosclerotic ischemic disease and deposition of lipids in the cornea. It may be (1) that natural clones of autoanti-lipoprotein antibodies are responsible for the minute quantities of Ig-Lp found in normal people; (2) that the marked development of one of these clones is the cause of autoimmune hyper- or dyslipidemia and xanthomatosis associated with monoclonal gammapathy; (3) that the limited development of a clone produces the Ig-Lp particles found in hypercholesterolemic patients; (4) that there are types of Ig-Lp particles (IgA Lp) that may be harmful for tissues independently of hypercholesterolemia.

Literacy promotion for Hispanic families in a primary care setting: a randomized, controlled trial.

BACKGROUND: Reading aloud is an important activity to prepare children to succeed in learning to read. Many Hispanic children have reading difficulties and therefore are at increased risk for school failure. METHODS: We conducted a prospective, randomized, controlled study to evaluate the effectiveness of a literacy promoting intervention delivered to low-income Hispanic families with infants. We consecutively enrolled 135 low-income Hispanic parents of healthy 5 to 11 month old infants. Families were randomly assigned to an intervention (n = 65) or control (n = 70) group. At enrollment and at two consecutive well-child visits, pediatricians gave intervention families: 1) an age-appropriate bilingual children's book, 2) a bilingual handout explaining the benefits of reading to children, and 3) literacy-promoting anticipatory guidance. Ten months after enrollment we reinterviewed 130 parents. RESULTS: Both groups were comparable at baseline. At follow-up, intervention parents were more likely to read books with their child at least 3 days/week (intervention = 66% vs control parents = 24%) and to report that reading books was one of their three most favorite things to do with their child (intervention = 43% vs controls = 13%). Intervention families also had a greater number of children's books and total books at home. Using a multiple logistic regression model, controlling for child and parental age, reading habits, and English proficiency, we found that the odds of parents reading to their child at least 3 days/week were 10 times greater in intervention families (OR 10.1, 95% CI 4.0-25.6) compared with control families. CONCLUSIONS: This simple, culturally appropriate intervention significantly increased literacy behaviors in low-income Hispanic families.

The contribution of missed opportunities to childhood underimmunization in Baltimore.

OBJECTIVE: To determine the community-wide incidence of missed opportunities to vaccinate, to describe the clinical settings in which they occur, and to estimate the impact of missed opportunities on immunization coverage. DESIGN AND METHODS: We abstracted outpatient medical records from a random, community-based sample of 2-year-old children whose residence was inner-city Baltimore. The date of each vaccine and the date, diagnoses, and temperature at each visit were collected for 502 children at 98 different provider sites. MAIN OUTCOME MEASURES: Missed opportunities to vaccinate and up-to-date vaccination status. RESULTS: By 24 months of age, 75% of the children had at least one missed opportunity and only 55% were up-to-date for the 4:3:1 series. Missed opportunities occurred at more than one third of eligible visits for each vaccine, including > 20% of preventative care visits. Diagnoses commonly associated with missed opportunities were "well child," otitis media, upper respiratory infection, gastroenteritis, skin infection, and resolving illness. If no missed opportunities had occurred, 73% of the children would have been up-to-date by 24 months. CONCLUSIONS: Missed opportunities occurred commonly at providers serving inner-city children in Baltimore and represent a major factor in underimmunization. Reduction of missed opportunities by accurate screening at all visits and adherence to the contraindication guidelines is a provider-based, low-cost method to increase immunization coverage.

Is continuity of care preserved in children who utilize the pediatric emergency department?

OBJECTIVE: Inner city families often use multiple sites for nonemergent medical care, including the pediatric emergency department. This practice raises concerns about continuity of care. The present study examined one aspect of continuity of care: Do children who receive care in a pediatric emergency department return to their primary care site so that appropriate follow up may be obtained? METHODS: Over a 4-week period two groups of neighborhood health center children were studied: Those who sought care at the pediatric emergency department and those who were "walk-ins" at the health centers. All visits during the 4-week study period which resulted in a recommendation for the child to be seen within 6 weeks at the health centers were included in the analysis. RESULTS: During the study period there were 87 patient visits to the pediatric emergency department with a documented physician instruction to be seen at their health center within 6 weeks. In 66 (76%) of the cases, the patient was seen at one of the health centers during the 6 weeks following the pediatric emergency department visit. There were 146 "walk-in" visits to the health centers with a documented physician instruction to be seen again at the health centers during the 6 weeks following the walk-in visit. In 111 (76%) of the cases, the patient was seen during the 6-week period. CONCLUSION: Our study shows that revisit rates were comparable for the two groups. We conclude that the rate of compliance with follow-up recommendations is similar for those who utilized the pediatric emergency department versus those who used the primary care site.

Immunization status of children enrolled in a hospital-based medicaid managed care practice: the importance of the timing of vaccine administration.

OBJECTIVES: To evaluate the immunization status of children enrolled in a hospital-based Medicaid managed care practice and to assess the impact of the timing of vaccine administration on measured immunization rates. DESIGN AND METHODS: The medical records of all children between the ages of 19 and 35 months who were continuously enrolled in the Medicaid managed care practice for the last 6 months of 1996 were reviewed. Immunization status was determined for the following vaccines: diphtheria-tetanus-pertussis/diphtheria-tetanus-acellular pertussis (4 doses); Haemophilus influenzae type b (3 doses); poliovirus (3 doses); hepatitis B (3 doses); measles-mumps-rubella (1 dose); and overall for the basic series. Two assessment methods were used to determine the immunization status of the study children: (1) a count of all documented vaccines ("count"); and (2) only including vaccines that met minimal age and spacing intervals based on American Academy of Pediatrics and CDC recommendations ("interval assessment"). RESULTS: With the count method vaccine-specific immunization rates ranged from 88 to 95%, with overall coverage of 80% for the basic series. With the interval assessment method vaccine-specific immunization rates ranged from 74 to 92%, with overall coverage of 53% for the basic series. CONCLUSIONS: When all documented vaccines were included in the assessment, vaccine-specific immunization rates approached national goals, although overall coverage remained below 90% in this Medicaid managed care practice. The substantially lower immunization rates obtained by the interval assessment method demonstrate the importance of considering the issue of vaccine timing when interpreting immunization rates and the need for policies for revaccinating children who were immunized at less than recommended intervals. The results also have implications for provider education regarding the early administration of vaccines.

Are immunizations an incentive for well-child visits?

OBJECTIVE: To assess the beliefs of parents and the visit patterns of their children to determine whether immunizations act as an incentive to use well-child care. DESIGN AND METHODS: Medical record audits provided data on immunizations and well-child visits. Two questions from a parent interview were used to identify 4 groups of parents: (1) motivated and (2) unmotivated to keep a well-child care appointment regardless of whether immunizations are scheduled, (3) vaccine-motivated and (4) checkup-motivated (parents who were influenced negatively by the prospect of receiving vaccinations). The percentage of children with a visit at each age window for well-child visits and the percentage up-to-date for their immunizations at given ages were compared across the 4 groups. The 4 groups were also compared for other parental attitudes about immunizations and well-child visits, and on sociodemographic and access characteristics. RESULTS: Most (73.3%) of the 502 parents surveyed were classified as motivated and 5% as unmotivated to keep a well-child care appointment regardless of whether an immunization was scheduled. Only 18.3% were categorized as vaccine-motivated and 3.4% as checkup-motivated. For all 4 groups, there was no discernible difference in attendance between immunization and nonimmunization visits. Attendance in the windows for well-child visits and percentage of children up-to-date on immunizations declined with increasing age. CONCLUSIONS: In this inner-city population, attendance patterns at visits did not support the incentive hypothesis. This finding should reassure clinicians that providing immunizations outside of regular well-child care visits will not necessarily decrease attendance at visits for well-child care.

The impact of outreach efforts in reaching underimmunized children in a Medicaid managed care practice.

BACKGROUND: National immunization standards call for all primary care providers to implement immunization tracking systems that include contacting families when children are overdue for vaccines. The restructuring of Medicaid systems toward managed care models with a greater emphasis on having defined medical homes for children presents opportunities to expand the use of immunization recall systems among low-income children. OBJECTIVE: To assess the impact of telephone, mail, and a combined approach to reaching underimmunized children enrolled in a hospital-based Medicaid managed care practice. DESIGN AND METHODS: All underimmunized children younger than 6 years who had been continuously enrolled in the hospital-based Medicaid managed care practice for 3 months were randomly assigned to 1 of 4 groups: (1) control group with no intervention, (2) telephone reminder group, (3) mail reminder group, or (4) sequential mail/telephone reminder group. After a 10-week follow-up, medical records and the hospital's computerized appointment scheduling system were reviewed to determine the effect of the outreach effort on appointments made, visits attended, immunizations received, and immunization status. RESULTS: Outreach efforts had a positive impact on the proportion of children immunized and on the resulting immunization coverage rates. The percentage of children receiving immunizations during the 10-week follow-up was 4.2% (3/71) for the control group, 16.7% (10/60) for the telephone reminder group, 19.0% (12/63) for the mail reminder group, and 25.7% (18/70) for the sequential mail/telephone reminder group. The percentage of children up-to-date for all immunizations at the end of the 10-week follow-up was 2.8% (2/71) for the control group, 13.3% (8/60) for the telephone reminder group, 14.3% (9/63) for the mail reminder group, and 17.1% (12/70) for the sequential mail/telephone reminder group. Forty-eight children were seen during follow-up without receiving all indicated vaccines. CONCLUSIONS: Outreach efforts were modestly successful in reaching underimmunized children in a Medicaid managed care practice, although the lack of accurate information on telephone numbers and addresses limited the effectiveness. Missed opportunities for immunization also reduced the impact of outreach on immunization coverage. Arch Pediatr Adolesc Med. 2000;154:1243-1247.

Management of elevated cholesterol levels by New Hampshire primary care physicians.

While experts are reaching a consensus on the appropriate management of abnormal blood lipid levels, the attitudes and behaviors of practicing clinicians are not well defined. This study addresses the attitudes and management practices regarding blood lipids of a representative sample of family physicians and general internists in the state of New Hampshire as determined by a questionnaire mailed during late 1986. Physicians consider blood lipid testing to be important in adults, but vary widely in their idea of what levels represent high risk for coronary heart disease. Over 40 percent felt that cholesterol levels need to be 7.80 mmol/L (300 mg/dL) or greater to constitute a high risk for coronary heart disease for patients aged 40 to 59 years. In addition, physicians feel much less effective in managing lipid abnormalities than in managing hypertension. Family physicians and general internists did not differ significantly in behavior or attitudes. To implement new expert recommendations, substantial efforts will be required to convince physicians to adopt lower cholesterol levels as indicating high risk for coronary heart disease and to feel more effective in patient management.

Ovarian fibromatosis and sotos syndrome with a new genetic mutation.

BACKGROUND: Sotos syndrome is one the most common overgrowth conditions, after Beckwith-Wiedemann syndrome. As with other overgrowth syndromes, Sotos syndrome can be associated with an increased risk of tumors. CASE: We describe a young girl with Sotos syndrome and ovarian fibromatosis with a new mutation not reported before in the literature. SUMMARY AND CONCLUSION: Development of ovarian tumor in Sotos syndrome has been poorly documented. Ovarian fibromatosis is a very rare non neoplastic disease. Management is guided by the benignity of the lesion and consists of surgical excision of the fibroma.

Early diagnosis of thoracolumbar spine fractures in children. A prospective study.

INTRODUCTION: Early detection of spine fractures in children is difficult because the clinical examination does not always raise worrisome symptoms and the vertebrae are still cartilaginous, and consequently incompletely visualized on routine X-rays. Therefore, diagnosis is often delayed or missed. HYPOTHESIS: The search for a "breath arrest" sensation at the moment of the trauma improves early detection of thoracolumbar spine fractures in children. MATERIALS AND METHODS: This was a prospective monocentric study including all children consulting at the paediatric emergency unit of a single university hospital with a thoracolumbar spine trauma between January 2008 and March 2009. All children had the same care. Pain was quantified when they arrived using the visual analog scale. Clinical examination searched for a "breath arrest" sensation at the moment of the trauma and noted the circumstances of the accident. X-rays and MRI were done in all cases. RESULTS: Fifty children were included with a mean age of 11.4 years. Trauma occurred during games or sports in 94% of the cases. They fell on the back in 72% cases. Twenty-three children (46%) had fractures on the MRI, with a mean number of four fractured vertebrae (range, 1-10). Twenty-one of them (91%) had a "breath arrest" sensation. Fractures were not visualized on X-rays in five cases (22%). Twenty-seven children had no fracture; 19 of them (70%) did not feel a "breath arrest". Fractures were suspected on X-rays in 15 cases (56%). DISCUSSION: The search for a "breath arrest" sensation at the moment of injury improves early detection of thoracolumbar spine fractures in children (Se=87%, Sp=67%, PPV=69%, NPV=86%). When no fracture is apparent on X-rays and no "breath arrest" sensation is expressed by the child, the clinician can be sure there is no fracture (Se=26%, Sp=100%, PPV=100%, NPV=53%). LEVEL OF EVIDENCE: Level III.

[Lyme arthritis in children: a diagnostic trap]. / Arthrite de Lyme chez l'enfant : un piège diagnostique.

Lyme disease incidence is diverse in France. It is rare in many regions but very frequent in Central and Eastern France. Arthritis is a late manifestation of Lyme disease. In children, the clinical and biological picture often resembles that of septic arthritis and juvenile rheumatoid arthritis, which are more frequent. This explains why diagnosis may be delayed, especially when patient lives in a region of low incidence. We report the case of an 8-year old girl with knee arthritis treated as septic arthritis in a region where Lyme disease is rare. Six days later, clinical and biological worsening suggested that the diagnosis had to be reconsidered. Lyme arthritis was confirmed by serology. Treatment was adapted and the progression was positive. This case reminds us that, in children, Lyme arthritis may look alike septic arthritis or juvenile rheumatoid arthritis and must be considered as a possible diagnosis, even in low-incidence areas.