Infant

Mitochondrial DNA depletion syndromes (MDSs) form a group of autosomal recessive disorders characterized by profoundly decreased mitochondrial DNA copy numbers in affected tissues. Three main clinical presentations are known: myopathic, encephalomyopathic and hepatocerebral. The first is associated with mutations in thymidine kinase 2 (TK2) and p53-induced ribonucleotide reductase B subunit (RRM2B); the second with mutations in succinate synthase A (SUCLA2) and B (SUCLG1); the third with mutations in Twinkle (PEO1), pol-γA (POLG1), deoxyguanosine kinase (DGUOK) and MPV17 (MPV17). In this work, we review the MDS-associated phenotypes and present our own experience of 32 MDS patients, with the aim of defining the mutation frequency of the known genes, the clinical spectrum of the diseases, and the genotype–phenotype correlations. Five of our patients carried previously unreported mutations in one of the eight MDS genes.

There are frequent applications for endoscopy in neurosurgery. However, endoscopic surgery in children has peculiar characteristics and is associated with different rates of success. In this study, the authors report on their experience with 134 consecutive endoscopy procedures performed in 126 patients<18 years of age. Between April 1993 and October 2007, 134 endoscopic procedures were performed in 126 children. Indications for surgery included brain tumors in 48 children, cystic lesions in 24, aqueductal stenosis in 23, various malformations in 20, hemorrhage and infarction in 6, and isolated ventricles in 5 children. In this long-term followup study, data were analyzed with respect to clinical and radiological success rates, as well as shunt dependence both in relation to lesion origin, and to the type of endoscopic procedure performed (endoscopic third ventriculostomy [ETV], septostomy, aqueductoplasty, or cystocisternostomy). Finally, the influence of patient age on the succ...

Safety, reactogenicity and immunogenicity of GSK Biologicals' hexavalent DTPa-HBV-IPV/Hib vaccine (Infanrix)hexa) was assessed when used for primary vaccination at 3, 4 and 5 months of age (N = 2163), compared to the separate administration of DTPa-IPV/Hib and HBV vaccines (N = 720). A similar safety and reactogenicity profile was demonstrated for both vaccine regimens, as well as a good immune response for all antigen components. By offering protection against six diseases in a series of single injections, the hexavalent DTPa-HBV-IPV/Hib vaccine was shown to be a safe, well tolerated and immunogenic alternative to primary immunization with licensed separately administered vaccines.

Background Rickets affects young infants and toddlers. However, there is a paucity of literature regarding the types of fractures that occur in rachitic patients. Objective To evaluate the age of patients at which radiographically evident rickets occurs, and to characterize the age incidence and fractures that are observed in infants and toddlers with radiographically evident rickets. Materials and methods A retrospective study of children younger than 24 months was performed. Clinical data and radiographs were reviewed. Radiographs obtained within 1 month of the diagnosis were evaluated for the presence or absence of osteopenia, presence or absence of fraying–cupping, and presence and characterization of fractures. Results After exclusion criteria were applied, 45 children were included in the study. Children with rickets evident by radiograph were in the age range of 2–24 months. Fractures were present in 17.5% of the study group, exclusively in mobile infants and toddlers. Fracture types included transverse long bone fractures, anterior and anterior-lateral rib fractures, and metaphyseal fractures. All fractures occurred exclusively in patients with severe, overtly evident rickets. Conclusion Fractures occur in older infants and toddlers with overt rickets and can be seen by radiograph. Fractures do not resemble high-risk non-accidental trauma fractures.

Background  Extremely low and very low gestational age (ELGA and VLGA) constitutes a risk factor for development even in absence of cerebral damage, as an immature central nervous system is exposed to invasive and inadequate stimulation. We tested the hypothesis that GA impacts developmental outcomes and trajectories of preterms without major cerebral damage in the first 2 years of life, expecting poorer developmental outcomes and higher rate of impairment with the decreasing of GA. We also evaluated whether GA, together with developmental outcomes in the first year of life, was related to developmental outcomes at 24 months.Methods  Eighty-eight infants, divided into three GA groups (ELGA: ≤28 weeks; VLGA: 29–32 weeks; full term: >37 weeks) were assessed longitudinally at 6, 12, 18 and 24 months using the Griffiths Mental Development Scales.Results  Use of a repeated measure multivariate analysis of variance resulted in several significant findings. GA was associated with the developmental quotient (DQ) scores (P= 0.006); and locomotor (P < 0.001), eye and hand co-ordination (P= 0.016) and performance (P= 0.040) sub-scale quotient (SQ) scores; age of evaluation was also associated with DQ scores (P= 0.002), and locomotor (P < 0.001) and performance (P < 0.001) SQ scores. In particular, ELGAs exhibited lower DQ and SQ scores compared with the VLGA and full-term groups; some ELGAs showed mild, moderate or severe cognitive impairments, while few VLGAs mild impairments. Linear regression analysis showed that GA (P= 0.034) and 12-month developmental outcome (P < 0.001) were related to 24-month developmental outcome.Conclusions  Different developmental trajectories emerged in relation to GA, with poorer developmental outcomes and higher rates of impairment in ELGAs and few mild impairments in VLGAs. The relevance of taking into account both GA and repeated assessments in the first 2 years of life was shown.

The anatomy and physiology of nerve tissue and the peripheral nerve are reviewed. The importance of the anatomical and physiological understanding of nerve tissue in the surgical repair of nerve injuries is discussed. This includes an outline of the light and electron microscopic histology of nerve and a short review of axoplasmic flow. In addition, the nerve coverings, endoneurium, perineurium, and epineurium, are described. The relationship of these coverings to the surgical therapy of nerve injuries is outlined. By maintaining, where possible, nerve fascicle continuity and by restoring, where practical, the normal physiology of distorted but not disrupted fascicles, with the use of careful internal neurolysis, optimal clinical return of function should be achieved.

This article reports an evidence-based practice project using the Iowa Model of Evidence-Based Practice to Promote Quality Care for a common nursing procedure, nasogastric tube placement verification in children. Little research exists regarding the care of nasogastric tubes in children, and traditional verification methods prevail. Auscultation of air insufflation over the abdomen is still used to check placement in many settings, despite research dating back to the 1980s questioning this approach. X-ray remains the only certain way to verify placement, but getting an X-ray before each feeding would be costly and impractical. Additional bedside methods are needed. Project results demonstrate a decrease (93.3% to 46.2%) in the use of auscultation and improved use of other, more reliable methods to determine nasogastric tube placement. Changing practice can be challenging. However, with persistence and re-infusion, this project provides an important example of how the evidence-based ...

The globally escalating thyroid nodule incidence rates may be only partially ascribed to better diagnostics, allowing for the assessment of environmental risk factors on thyroid disease. Endocrine disruptors or thyroid-disrupting chemicals (TDC) like bisphenol A, phthalates, and polybrominated diphenyl ethers are widely used as plastic additives in consumer products. This comprehensive review studied the magnitude and uncertainty of TDC exposures and their effects on thyroid hormones for sensitive subpopulation groups like pregnant women, infants, and children. Our findings qualitatively suggest the mixed, significant (α = 0.05) TDC associations with natural thyroid hormones (positive or negative sign). Future studies should undertake systematic meta-analyses to elucidate pooled TDC effect estimates on thyroid health indicators and outcomes.