Segmentation anomalies of vertebrae and ribs with other abnormalities of blastogenesis: syndromes or associations?

On the basis of two recently studied human fetuses and the historical records and remnant 19th century skeletons in the Museum Vrolik in Amsterdam, we have begun an analysis of an unusual form of somite dysgenesis. This disorder includes vertebral and costal segmentation defects with or without (distal) limb malformation and deformities, anogenital anomalies, unusual colonic atresia, abdominal wall and diaphragmatic defect, Central nervous system abnormality with large head, and severe neurohypotrophic lower limb deformities. This study suggests the existence of an axial vertebral/costal dysgenesis complex with apparently or nearly normal number of cervical vertebrae. There also is some overlap with lumbosacral agenesis but different from the autosomal recessive entities Jarcho-Levin syndrome or spondylocostal dysostosis. To date, no associated heart defects have been noted.     

Hymenal anomalies in twins—review of the literature and case report

Subocclusive hymenal variants, such as microperforate or septate hymen, impair somatic functions (e.g., vaginal intercourse or menstrual hygiene) and can negatively impact the quality of life of young women. We know little about the prevalence and inheritance of subocclusive hymenal variants. So far, eight cases of familial occurrence of occlusive hymenal anomalies (imperforate hymen) have been reported. In one of these cases, monozygotic twins were affected. We are reporting the first case of subocclusive hymenal variants (microperforate hymen and septate hymen) in 16-year-old white dizygotic twins. In addition, we review and discuss the current evidence. Conclusion: The mode of inheritance of hymenal variants has not been determined so far. Because surgical corrections of hymenal variants should be carried out in asymptomatic patients (before menarche), gynecologists and pediatricians should keep in mind that familial occurrences may occur.     

Retinoblastoma and deletion of the long arm of chromosome 13: An underestimated diagnosis?

We report an infant with normal neurological development and phenotype who developed bilateral retinoblastoma (RB). This patient, despite lack of dysmorphic features, demonstrated constitutional abnormality of the long arm of chromosome 13 on standard karyotype. We recommend systematic cytogenetic examinations complemented by fluorescent in situ hybridization as second-line screening in all patients suspected for hereditary RB despite negative RB1 molecular screening and normal phenotype.     

Are data on the prevalence and duration of breastfeeding reliable? The case of Italy

Many countries produce data on the prevalence and duration of breastfeeding, but are they reliable? We reviewed 16 studies on breastfeeding in Italy published after 1990. They report a prevalence of breastfeeding at and around birth ranging from 66% to 91%, decreasing to 17–52% at 4 mo and 28–36% at 6 mo. Most studies refer to a non‐representative sample of the Italian population. Two studies used standard definitions of breastfeeding, but their results are difficult to interpret or cannot be generalized. Five other studies used non‐standard definitions that undermine the interpretation of results. The remaining nine studies used no definition at all. All studies used a recall period different from 24 h, or from the whole hospital stay for breastfeeding at discharge, making the interpretation of results even more difficult. We conclude that the published information gives an inaccurate picture of the prevalence and duration of breastfeeding in Italy, leading to unjustified optimism and inaction. The actual figures may be lower, as shown by preliminary data from a small Italian region: using standard definitions and methods during a 9‐mo monitoring period, exclusive breastfeeding averaged 35% at discharge and 23% at about 4 mo of age.     

The Importance of Choice and Definition for the Measurement of Child Poverty—the case of Vietnam

Increased attention to childrens’ special position within poverty measurement resulted in the development of various child poverty approaches in the last decade. Analysis shows that their development processes involve a similar set of steps and decisions, predominantly taken in the same sequence. However, it also becomes apparent that many of these decisions are made implicitly rather than explicitly, resulting in unclear and non-transparent underlying constructs. Consequently, child poverty approaches often lack a solid and robust foundation and are misinterpreted and misunderstood when used for analytical and policy purposes. This paper distills a generic construction process from the analysis of existing child poverty approaches, presenting a tool for clear and transparent development of such approaches. It is then applied to the case of Vietnam, using household survey data, to illustrate its practical use and develop a Vietnam-specific child poverty approach. Findings suggest that 37% of all children are poor, whilst observing a large rural-urban divide but no significant differences between boys and girls.     

ADHD and gender: are risks and sequela of ADHD the same for boys and girls?

BACKGROUND: Research comparing treatment-referred boys and girls with attention-deficit/hyperactivity disorder (ADHD) has yielded equivocal results. Contradictory findings may be associated with differential referral practices or unexplored interactions of gender with ADHD subtypes. METHOD: We examined possible gender differences in ADHD and its subtypes among children aged 4 to 17 in a representative community sample (N = 1896) in Puerto Rico. Caretakers provided information through the Diagnostic Interview Schedule for Children (version IV) and a battery of impairment, family relations, child problems, comorbidity and treatment measures. RESULTS: ADHD was 2.3 times more common in boys than girls, but with one exception there was little evidence that the patterns of associations of ADHD with correlates were different for boys and girls. The exception was school suspension, which was more common among ADHD boys than girls. Additional gender interactions were found when ADHD subtypes were considered. Among those with combined type (n = 50), boys were more likely to be comorbid with mood disorders than girls. For those with the inattentive type (n = 47), girls were more likely to be comorbid with anxiety disorders than boys. CONCLUSIONS: Our findings lend cross-cultural generalizability to recent reports that gender does not interact with correlates for ADHD overall, but that it may play a role in subtypes.     

Premastication: the second arm of infant and young child feeding for health and survival?

Premastication of foods for infants was a crucial behavioural adaptation to neoteny that ensured nutritional adequacy during the period of complementary feeding throughout the course of human evolution until recent times. While the paps and gruels of agricultural systems provided an alternative and modern food technology appears to make it unnecessary, we argue that, in addition to its role in nutrition, premastication also played a crucial role in supporting infant health. Its abandonment, particularly in poor communities, has placed children at increased risk of inadequate nutrition and decreased ability to confront infections associated with the introduction of complementary foods. We present two empirical studies. Section I is a cross-cultural study of the ethnographic literature in order to estimate prevalence in non-Western societies. One-third of ethnographies in the worldwide sample with data on infant feeding report premastication. Section II presents the results of a qualitative study in China, conducted in order to provide data on the likelihood that this percent is incorrect due to under-reporting. The finding that 63% of Chinese university students received premasticated food as infants, whereas none of eight ethnographic studies performed in Han China identified premastication in their reports, provides support for the conclusion that the cross-cultural study grossly underestimates its prevalence in non-Western societies. Section III is a discussion of potential benefits and risks of infant exposure to maternal saliva. We conclude with the argument for a concerted research effort to determine whether premastication can solve not only the 'weanling dilemma' in poor countries but also some of the health problems among the better-off.     

Acute Myeloid Leukemia (AML-M2) with Translocation (8;21) (q22;q22) and Abnormal Eosinophilic Precursors in the Bone Marrow—A Case Report

The translocation (8;21)(q22;q22) is frequently associated with M2 subtype of AML. The authors herein present a case of AML-M2 in a nine-year-old boy without hepatosplenomegaly, lymphadenopathy or any bleeding diathesis. Bone marrow examination revealed high number of eosinophilic precursors (60%) among the total nucleated bone marrow cells. Cytogenetic study with G- banding method showed 46, XY, t (8;21)(q22;q22). The morphological abnormalities in eosinophils observed in AML suggested that eosinophils may be a part of leukemic process.     

Are domestic violence and the excessive use of alcohol risk factors for preterm birth?

Violence has been associated with adverse pregnancy outcome, which led us to determine whether patients who deliver preterm, experience more domestic violence than those who deliver at term. Two groups of patients were assessed, a preterm labour group and a low-risk group.A total of 229 patients were interviewed: 99 in the low-risk (LR) group and 130 in the preterm labour (PTL) group. The PTL group experienced significantly more violence throughout their lives than the LR group. Experiences of violence within the last year or during the pregnancy were also higher for the PTL group. This group smoked significantly more cigarettes per day, used more alcohol, and had a higher incidence of syphilis than the LR group. Violence alone does not seem to cause PTL directly, but is part of a low socioeconomic lifestyle. The fact that alcohol-use is so high among these women needs to be addressed and the need for education on values and respect, family planning use, and low-risk sexual behaviour is once again challenged.     

What is the rationale for the use of granulocyte and granulocyte-macrophage colony-stimulating factors in the neonatal intensive care unit?

Neonatal sepsis remains an unsolved major contributor to morbidity and mortality. In the 1980s the promise of augmenting immune function using pooled intravenous gammaglobulin to supplement the exceedingly low levels of immunoglobulin G in premature infants failed to demonstrate a clear advantage. Similarly, cytokine augmentation of cellular function in the 1990s largely appeared to be suffering the same fate. However, both results may arise from a problem in experimental design where the combination of both treatments may be necessary along with specific antibody. For example, in vitro, independently of an array of other humoral and cellular immature immune system issues, opsonization of bacteria is improved in the presence of antibody. The question is whether the same result can be achieved in vivo. No experiments have been reported that directly test this hypothesis. CONCLUSION: More investigation is needed in this challenging area of neonatal research.