Association between birth weight and neuromotor performance: a twin study.

Studies have shown important associations between low birth weight (BW), a variety of morbidities, and reduced motor performance. Using a twin sample, this study aimed to verify (a) the magnitude of the association between BW and neuromotor performance (NMP); (b) if the NMP of twins is within the normal range; and (c) if monozygotic (MZ) and dizygotic (DZ) twins' intra-pair similarities in NMP are of equal magnitude. We sampled 191 twins (78 MZ; 113 DZ distinguished through their DNA), aged 8.9 ± 3.1 years with an average BW of 2246.3 ± 485.4 g; gestational characteristics and sports practices were also assessed. The Zurich Neuromotor test battery, comprising five main tasks, was used; Twins NMP assessments were highly reliable (intra-rater reliability: 0.76-0.99). BW accounted for up to 11% of the total variance of NMP across the zygosity groups. Between 32.7% and 76.9% of children were below the 10th percentile for tasks requiring timing of performance (purely motor task, adaptive fine motor task, dynamic, and static balance), while less than 6.4% of children were below the 10th percentile for associated movements. MZ twins NMP intraclass correlations showed greater similarity than DZ twins in three of the five tasks, suggesting the importance of genetic factors in NMP.

Prognostic value of brain proton MR spectroscopy and diffusion tensor imaging in newborns with hypoxic-ischemic encephalopathy treated by brain cooling.

INTRODUCTION: MRI, proton magnetic resonance spectroscopy (¹H-MRS), and diffusion tensor imaging (DTI) have been shown to be of great prognostic value in term newborns with moderate-severe hypoxic-ischemic encephalopathy (HIE). Currently, no data are available on ¹H-MRS and DTI performed in the subacute phase after hypothermic treatment. The aim of the present study was to assess their prognostic value in newborns affected by moderate-severe HIE and treated with selective brain cooling (BC). METHODS: Twenty infants treated with BC underwent conventional MRI and (1)H-MRS at a mean (SD) age of 8.3 (2.8) days; 15 also underwent DTI. Peak area ratios of metabolites and DTI variables, namely mean diffusivity (MD), axial and radial diffusivity, and fractional anisotropy (FA), were calculated. Clinical outcome was monitored until 2 years of age. RESULTS: Adverse outcome was observed in 6/20 newborns. Both ¹H-MRS and DTI variables showed higher prognostic accuracy than conventional MRI. N-acetylaspartate/creatine at a basal ganglia localisation showed 100% PPV and 93% NPV for outcome. MD showed significantly decreased values in many regions of white and gray matter, axial diffusivity showed the best predictive value (PPV and NPV) in the genu of corpus callosum (100 and 91%, respectively), and radial diffusivity was significantly decreased in fronto white matter (FWM) and fronto parietal (FP) WM. The decrement of FA showed the best AUC (0.94) in the FPWM. CONCLUSION: Selective BC in HIE neonates does not affect the early and accurate prognostic value of ¹H-MRS and DTI, which outperform conventional MRI.

Correlates of the Physical Activity Decline during Childhood.

PURPOSE: This study aimed to describe longitudinal trends in children's moderate-to-vigorous physical activity (MVPA) and to investigate associations with individual, familial, and school characteristics. METHODS: A sample of 341 Portuguese children age 5-10 yr (173 girls) from six age cohorts was followed over 3 yr using a mixed-longitudinal design. Physical activity, body mass index (BMI), gross motor coordination, and musculoskeletal fitness were assessed annually. Information on socioeconomic status and school characteristics was collected and analyzed with mixed models. RESULTS: MVPA shows a similar declining trend in both sexes, but on average, boys exceeded the World Health Organization recommendations of 60 min·d -1 . The best model showed that boys spend, on average, more time in MVPA than girls. Children with lower BMI are less prone to the decline in MVPA, whereas higher levels of musculoskeletal fitness were associated with lower declines in MVPA. Of all school characteristics, only playground dimension was related to MVPA decreasing trajectories. CONCLUSIONS: MVPA systematically declines from 5 to 10 yr of age in both boys and girls, but boys remained more active than girls across the age range. The best predictors of MVPA decline are sex, BMI, musculoskeletal fitness, and school playground dimension.

Prenatal diagnosis and outcome of partial agenesis and hypoplasia of the corpus callosum.

OBJECTIVE: To present antenatal sonographic findings and outcome of fetuses with hypoplasia or partial agenesis of the corpus callosum. METHODS: The database of our ultrasound laboratory was searched retrospectively for cases of hypoplasia or partial agenesis of the corpus callosum suspected at antenatal neurosonography between 1998 and 2008 and confirmed by pathology or postnatal neuroimaging. In surviving infants, clinical follow-up had been arranged to assess neurodevelopmental outcome. RESULTS: Nineteen fetuses with callosal underdevelopment were identified at a median gestational age of 22 (range, 21-33) weeks and confirmed at follow-up, including 14 with partial agenesis and five with hypoplasia. Among the 14 fetuses with partial agenesis, there were additional brain findings in 10, including two with absent cavum septi pellucidi, four with mild isolated ventriculomegaly and four with cerebellar abnormalities, two of which also had ventriculomegaly. Pregnancy was terminated electively in seven of the cases with partial agenesis and there was one neonatal death. Among the six surviving infants, neurodevelopmental outcome was appropriate for age in three at follow up, including two cases with isolated partial agenesis of the corpus callosum. Among the five fetuses with prenatally diagnosed callosal hypoplasia, additional anomalies were present in four. Two cases were terminated electively and three were alive at the time of writing, with a median age of 3 years. Among them, apparently normal neurological development was observed in only one case. CONCLUSIONS: An antenatal diagnosis of callosal underdevelopment is possible by expert sonography. There is often association with other major anomalies. However, even in fetuses with apparently isolated findings, the prognosis is uncertain.

Congenital colonic stenosis: a case of late-onset.

PURPOSE: Colonic atresia and stenosis are rare causes of intestinal obstruction in the infant. Only 1.8%-15% of intestinal atresias occur in the colon. Congenital colonic stenosis is even less common than colonic atresia. Only 10 cases have been reported in Literature since 1966 and only one late-onset case has been reported in Literature until now. We describe the case of a 4-month-old baby coming to our attention because of an intestinal subocclusion due to a congenital colonic stenosis of the ascending colon. CASE REPORT: A 4-month-old baby came to our attention for persistent abdominal distension, reduction of bowl function and decaying of overall clinical conditions. A plain abdominal radiograph showed distended intestinal loops with air-fluid levels and no gas in the rectum. During the barium enema the contrast medium appeared to completely fill the lumen of the colon up to the ileo-cecal valve and Cecum appearing higher than normal. Beyond the ileo-cecal valve, the contrast medium showed an abnormal hypotonic dilatation of the small intestinal loops. Suspecting an organic intestinal obstruction, an explorative laparotomy was deemed necessary and at halfway in the ascending colon a stenosis was found. RESULTS: The post-operative course was uneventful and the patient is currently in good clinical conditions, has a normal diet and is thriving. CONCLUSION: Considering both the Literature and our own experience, it is wise to reckon the congenital colonic stenosis as a rare but possible cause of complete or partial intestinal obstruction not only in the newborn but also throughout the first year of life.

[Clinical spectrum and management of congenital pulmonary cystic lesions].

INTRODUCTION: Congenital cystic lesions of the lung in children are uncommon but potentially life-threatening and warrant an urgent diagnostic work-up. Pulmonary sequestration (PS), congenital cystic adenomatoid malformation (CCAM), congenital lobar emphysema (CLE), and bronchogenic cyst (BC) are the four major congenital cystic lesions, but they share similar embryologic and clinical characteristics. The purpose of this study is to review our institutional experience with congenital cystic lung disease emphasizing on diagnosis and management. PATIENTS AND METHODS: Between January 1975 and October 2007, 109 patients have been treated, of which 57 males and 52 females, the age ranged from the birth to 13 years. 104 patients presented solitary lesions: CCAM (47), CLE (16), PS (22), BC (19). The remainders 5 patients presented two simultaneous lesions: intralobar PS and CCAM (2), CLE and CCAM (3). RESULTS: All the lesions have been treated surgically: in the first cases, only symptomatic patients underwent surgery, while in the last years, patients have systematically been submitted operated. CONCLUSIONS: A meaningful percentage of CCAM joins to PS and CLE; instead the BC are generally isolated, probably deriving by a more precocious embryogenetic defect. The treatment of these lesions is surgical: CCAM (type I-II) and CLE should be treated promptly in newborns for respiratory distress and pneumothorax; CCAM (type II) and BC generally become symptomatic gradually and expose to degenerative risk; intralobar PS generally becomes symptomatic and surgery prevents the risk of infections. Extralobar PS and the asymptomatic BC are not exempted by surgical approach whenever accidentally described as masses of uncertain nature. Asymptomatic cysts in children should be resected, to avoid later complications of the cysts, which could make operation more difficult. Conservative anatomic resections should be attempted to preserve functional lung tissue. Careful histologic examination of the resection specimen is mandatory to identify occult malignancy. In conclusion a correct embryogenetic organization and a clinical evaluation of the congenital cystic lung diseases allow a precocious and effective surgical timing.

[Thoracoscopic treatment of oesophageal atresia]. / Correzione toracoscopica dell'atresia esofagea.

BACKGROUND: Advancements in minimally invasive surgery in newborns have allowed even the most complex neonatal procedures to be approached using these techniques. Other authors have demonstrated its efficacy in the treatment of the esophageal atresia with distal fistula. METHODS: We report our experience based on the thoracoscopic repair of esophageal atresia with distal fistula in two newborns. Birth weights were 2.800 g and 2.300 g respectively. The patients were intubated endotracheally and placed in a left prone position. Four trocars were inserted: the first one of 5 mm was positioned in the fifth intercostal space for the camera, the other two of 3 mm were positioned in the fourth intercostal space on the anterior and posterior axillary line respectively for the operative instruments. The last trocar of 3 mm was inserted in the third intercostal space on the anterior axillary line for the lung retractor. CO2 was insufflated at a pressure of 8 mm Hg and a flow of 0.5 L/min. The fistula was first isolated then ligated and cut with scissors. The proximal esophagus was opened and an anastomosis was made over a 6F or 8F nasogastric tube with interrupted 4-0 Vicryl sutures. A tube chest was placed through the lower trocar site with the tip near the anastomosis. RESULTS: These two procedures were free of neither intraoperative nor post-operative complications. Feeding by nasogastric tube was started after a mean of 4 days. Barium swallow made on day 7 demonstrated no leakage and no stenosis of the anastomosis. Total oral feeding was possible after 8 days. Mean hospitalization was 14 days. CONCLUSION: This initial report shows, as demonstrated by the experience since 1999 by other authors, that the thoracoscopic esophageal repair in the newborns is technically feasible and, thanks to a magnified vision, it allows to abtain a good isolation of the esophagus and of the tracheo-esophageal fistula respecting the anatomical structures. Moreover the advantages are in terms of exposure and esophageal length, avoiding the significant short and long-term morbidity associated with thoracotomy.

Empty sella in children and adolescents with possible hypothalamic-pituitary disorders.

Several computed tomographic scan studies have described empty sellae in children with hypothalamic-pituitary disorders. Magnetic resonance imaging, however, is a more precise technique for visualizing the intrasellar content, such as the stalk and pituitary lobes. Using magnetic resonance imaging, we studied 339 children and adolescents (mean age +/- SD, 12.7 +/- 4.5 yr) with possible hypothalamic-pituitary disorders to ascertain the frequency of primary empty sella and examine its relationships with other intrasellar abnormalities, pituitary function, and adverse perinatal events. One hundred and ninety-three patients had isolated GH deficiency, 43 had multiple pituitary hormone deficiency, 10 had diabetes insipidus, 17 had hypogonadotropic hypogonadism, 5 had idiopathic delayed puberty, 47 had precocious puberty, and 24 had other hypothalamic pituitary disorders of hyperfunction. One tenth (10.9%) of the patients (37 cases) had empty sella, with a marked variation of incidences among the disorders listed above. A statistically higher frequency of subjects with empty sellae was found only in patients with multiple pituitary hormone deficiency. Patients with and without empty sellae were not different in regard to age or sex. The incidence of empty sella in the various groups of patients was as follows: isolated GH deficiency, 8.8% (17 cases); multiple pituitary hormone deficiency, 34.9% (15 cases); hypogonadotropic hypogonadism, 5.9% (1 case); idiopathic delayed puberty, 40% (2 cases); and precocious puberty, 4.2% (2 cases). No patients with isolated diabetes insipidus or other hypothalamic-pituitary disorders had empty sellae. In the patients with empty sellae, abnormalities of the stalk or posterior lobe were found in 1 patient with isolated GH deficiency (5.9%), 13 patients with multiple pituitary hormone deficiency (86.7%), and no patients with puberty disorders. Likewise, adverse perinatal events were found only in 1 patient with isolated GH deficiency and 9 patients with multiple pituitary hormone deficiency. These findings suggest that empty sella is not rare in children and adolescents evaluated for hypothalamic-pituitary disorders, particularly if there is multiple pituitary hormone deficiency. Empty sella can be found regardless of abnormalities of the stalk and posterior lobe, and adverse perinatal events do not seem to be the primary etiological factor. Empty sella is usually associated with pituitary hypofunction, but it can be found in patients with hyperfunction of the hypothalamic-pituitary-gonadal axis.

Rheumatoid arthritis and B cell lymphoma with pathological changes of reactive histiocytosis.

A 67 year old woman with rheumatoid arthritis was admitted to hospital in acute renal failure. Her clinical features included increasing dyspnoea and oedema, and a computed tomogram of the abdomen showed a large mass in the retroperitoneum. Twenty six days later, she died, and a post mortem examination was carried out. The histological changes of the mass indicated B cell lymphoma of diffuse large cell type, with a reactive proliferation of erythrophagocytosing histiocytes. Immunocytochemical studies showed that the histiocytes were positive for CD-68 and lysozyme, but negative for S-100 protein. Such neoplastic B cell proliferation accompanied by activation of benign looking histiocytes with erythrophagocytosis is very rare.

Long-term follow-up and final height in girls with central precocious puberty treated with luteinizing hormone-releasing hormone analogue nasal spray.

OBJECTIVE: To evaluate clinical, hormonal, and auxologic features in a group of girls with central precocious puberty during and after long-term treatment with luteinizing hormone-releasing hormone analogue nasal spray. DESIGN: Clinical survey, before-after trial. SETTING: Pediatric Clinic, Endocrinological Center, University of Bologna (Italy). PATIENTS: Forty-one girls with central precocious puberty were treated for 28 months (range, 12 to 60 months); 25 of them discontinued therapy at a mean chronological age of 10.0 +/- 0.9 years and were followed up for 25 months (range, 6 to 50 months). Twelve patients achieved adult height. INTERVENTION: Buserelin acetate (D-Ser [TBU] LHRH A1-9EA) nasal spray; 1800 micrograms/d subdivided into six intranasal administrations of 300 micrograms each. MEASUREMENTS/MAIN RESULTS: Basal follicle-stimulating hormone, peak gonadotropin values (fluoro-immunoenzymatic method, Eurogenetics, Tessenderlo, Belgium; sensitivity was 0.5 IU/L for luteinizing hormone and 1 IU/L for follicle-stimulating hormone), and estradiol (radioimmunoassay method, DPC Kit, Los Angeles, Calif; sensitivity was 11.01 pmol/L) were significantly suppressed (P < .0001) as of the third month of treatment and increased significantly (P < .01) to pretreatment levels 6 months after discontinuation of therapy. Uterine and mean ovarian volumes, which were stable throughout treatment, appeared significantly higher (P < .05) than before treatment at only 6 months after stopping therapy. In patients with more advanced bone age (according to Greulich and Pyle) at onset of treatment, we observed a more significant improvement of SD score for height (Tanner). Mean adult height in our patients was 159.5 +/- 6.1 cm, and the variables that were significantly associated with final height were height age/bone age ratio at onset and target height (according to Tanner). CONCLUSIONS: Long-term buserelin treatment administered nasally is effective because of completeness of inhibition, quick reversibility after treatment is stopped, and lack of side effects. Its auxologic results are different depending on bone age advancement at onset, which represents a predictor of "therapeutic success." Further follow-up would be useful.

Laparoscopic repair of Morgagni-Larrey hernia in a child.

Primary laparoscopic repair of Morgagni-Larrey hernia has been described in adult patients but not in children. This is the first report of primary laparoscopic correction in the pediatric age group without using a prosthesis. A Morgagni-Larrey hernia was found incidentally in a 3-year-old-girl. Laparoscopic correction of the defect was performed. After 6 months the patient is doing well. The chest radiograph shows complete resolution of the hernia. The laparoscopic approach allowed repair the hernia with minimal invasiveness. Laparoscopic correction is not difficult except for those hernias in which dense adhesions are present.

Ectopic cervical thymus: case report.

Ectopic cervical thymus is rarely considered in the differential diagnosis of cervical masses: this lesion is essentially asymptomatic and generally occupies a position in the neck along the carotid sheath, underneath the sterno-cleido-mastoid muscle. It is supposed that most of these masses arise as a consequence of migration defects during glandular embryogenesis. Ectopic thymus rarely invades contiguous structures but in the literature some cases of malignant transformation of aberrant cervical thymus have been reported. Some non-invasive investigations (MRI, ultrasonography) are useful but accurate diagnosis depends eventually on surgical excision and histologic examination.

Esophageal leiomyomatosis in children: report of a case and review of the literature.

The authors describe a case of a 5-years-old girl affected by diffuse oesophageal leiomyomatosis presenting with progressive dysphagia, cyanosis, recurrent pneumonia and retrosternal pain. She also suffered from occasional constipation due to perineal involvement by the disease and had a past history of recurrent microscopic hematuria, suggesting an association with an Alport-like syndrome. Only 24 cases of esophageal leiomyomatosis could be found in the medical literature in children aged less than 14 years, confirming the rarity of the disease. A clinical analysis of all cases reviewed from the literature is made, stressing the importance of an accurate preoperative diagnosis for the choice of proper surgical treatment to avoid recurrence.

Pleuropulmonary blastoma in congenital cystic adenomatoid malformation: report of a case.

Pulmonary blastoma is a rare malignant tumor seen in both adults and children. Approximately only 25% of cases occur in pediatric patients, many of whom affected by a congenital pulmonary cystic lesion. The clinical features, radiological findings and management of a 3-year-old boy affected by a pulmonary blastoma which arose in a congenital cystic adenomatoid malformation are reported, and an extensive review of the literature is also made. Because of the well-known tendency of cystic pulmonary diseases to develop malignancies, authors recommend the surgical excision of these kind of lesion or at least their close radiological follow-up.

Antenatal diagnosis and early laparoscopic treatment of a rare variation of androgen-insensitivity syndrome.

Androgen-insensitivity syndrome (AIS) (Testicular feminisation or Morris syndrome) is characterised by external female genitalia and bilateral testes with a normal male karyotype. This kind of syndrome is transmitted recessively. Presence of hypoplastic and short "pseudo-vagina" is one of the characteristics of this syndrome. We report here a case of AIS in which there was a well-formed vagina (6 cm). The case was diagnosed antenatally and managed laparoscopically.

Laparoscopic removal of a persistent Müllerian duct in a male: case report.

The authors refer to the use of the laparoscopic approach in Persistent Mullerian Duct Syndrome, starting from a case of "male vagina" with an anomaly inserted left ductus deferens inside the mullerian persistent duct. This patient was operated on using the laparoscopic technique.

The contextual interference effect in acquisition of dart-throwing skill tested on a transfer test with extended trials.

Previous studies of contextual interference have shown that practicing several motor skills randomly (high contextual interference) facilitates retention and transfer in comparison to practicing the same tasks in a blocked order (low contextual interference). However, many studies have not supported this phenomenon in motor learning, and some researchers have questioned whether the effect can be tested by using only a few trials on the transfer test. The present study used a different methodological approach in which the number of test trials was increased to assess whether the contextual interference effect is sustained over an extended number of trials in the transfer phase. Undergraduate students (N=32) were randomly allocated to either a blocked or random group. The participants practiced 80 acquisition trials in the dart-throwing task from distances of 300 cm and 420 cm, using two different grips. The transfer test after a 10-min. interval consisted of 40 trials with a new grip at a distance of 360 cm. The results did not support the contextual interference effect since there were no significant differences between groups on transfer. These findings suggest that the contextual interference effect may not be a global learning phenomenon which can be generalized to all learning situations.

[Clinical considerations on the use of CI 585 (ketalar) in pediatric odonto-stomatology]. / Considerazioni cliniche sull'impiego del CI 581 (Ketalar) nel campo dell'odontostomatologia pediatrica

Three years' experience with ketamin in paediatric odontostomatology is reported. A comparison is made between the disadvantages and advantages of this anaesthetic by comparison with fluothane.

[Epidemiological analysis of deaths occurring while taking a bath].

An epidemiological analysis of deaths occurring while taking a bath was carried out in Tochigi Prefecture. Data concerning the numbers of deaths were obtained from the Tochigi Central Police Office. Long-term assessments from 1978 to 1992 were completed for a total number of 1,348 persons (793 men and 555 women). The annual number of deaths during taking a bath increased gradually from 43 in 1978 to 140 in 1992. Death occurred 1.43 times more frequently in males than in females. The number during summer was only one eighth that of the winter peak. In addition, the increase in mortality was proportional to age. The mortality figures per 100,000 were, 10 for 40-49 age group, 31 for 50-59, 79 for 60-69, 251 for 70-79 and 469 for those 80 and over. It is concluded that the number of deaths occurring while taking a bath has increased gradually in those 80 or over.