Cardiovascular risk assessments at occupational health services: employee experiences.

BACKGROUND: Across England in the UK, population screening for cardiovascular disease (CVD) primarily takes place within general practice in the form of the National Health Service Health Check. Additional screening sites such as occupational health are advocated to improve the population impact. AIMS: To investigate participant experiences with cardiovascular and type 2 diabetes risk assessment (RA) at occupational health and subsequent support-seeking at general practice. METHODS: Face-to-face interviews were conducted for this qualitative study. Participants were recruited at three workplaces; a steel works and two hospital sites. Using interpretive phenomenological analyses, themes were drawn from salient narratives and categorically organized. RESULTS: There were 29 participants. Themes (n = 16) were organized into two domains; factors that facilitated (n = 9) or thwarted (n = 7) participant engagement with the RA and general practice. All participants described the RA as worthwhile and strongly valued RA at occupational health. Those with obesity and high CVD risk highlighted their difficulties in making lifestyle changes. Participants reported confusion and anxiety when GP advice about medication appeared to contradict what participants had interpreted during RA at occupational health. CONCLUSIONS: This study highlights factors that facilitate or thwart engagement in cardiovascular RA at occupational health services and general practice follow-up. Stakeholders can integrate these factors into standard operating procedures to enhance participant engagement and enable safeguards that minimize potential harm to participants.

Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1.

Interstitial deletions of the long arm of chromosome 1 are rare and they are classified as proximal or intermediate. The intermediate interstitial deletions span 1q24-1q32. We describe a 6-year-old girl with multiple pituitary hormone deficiency, severe cognitive impairment, bilateral cleft lip and palate, midline facial capillary malformation, erythema of hands and feet and dysplastic cranial vessels, low anti-thrombin III activity, hemifacial overgrowth due to progressive infiltrating lipomatosis with bone overgrowth, marked vascular proliferation and erythema of hands and feet, and abnormal cranial vessels. The girl's karyotype showed an apparently de novo interstitial deletion 1q24.3q31.1, which was defined by array-CGH. The deleted region contains numerous genes, but only eight (CENPL, LHX4, LAMC1, LAMC2, PTGS2, ANGPTL1, TNN, and TNR) are good candidates to explain, at least partially, the phenotype of the proposita. We, therefore, discuss the involvement of these genes and the observed phenotype.

The role of lymphoscintigraphy in the diagnosis of lymphedema in Turner syndrome.

Lymphedema can be present in patients affected by Turner syndrome (TS) with the dorsum of the hands and feet most commonly affected. This lymphedema results from underdevelopment of the lymphatic system before birth, and it usually decreases during childhood. The aim of our study was to evaluate the role of lymphoscintigraphy as a diagnostic tool in patients with TS to assess possible impairments in the lymphatic system. Eighteen patients with TS were karyotyped to confirm diagnosis and were evaluated by lymphoscintigraphy. Lymphatic dysfunction was demonstrated in 15/18 patients. Lymphoscintigraphic studies showed: 1) lymphatic channels, 2) collateral lymphatic channels, 3) interrupted lymphatic structures, and 4) lymph nodes of the deep lymphatic system. Our data demonstrate that lymphoscintigraphy should be mandatory not only in patients affected by Turner syndrome with signs of lymphatic dysplasia but also in those with minimal or absent signs of lymphatic impairment in order to obtain a very early diagnosis and to provide substantial information for possible medical or surgical treatment.

Bone quality assessed by phalangeal quantitative ultrasonography in children and adolescents with isolated idiopathic growth hormone deficiency.

OBJECTIVE: Some observations indicate that GH deficiency (GHD) may have little impact on bone mineralization in contrast to its effects on bone growth and maturation. The aim of the present study was to evaluate the effects of isolated GHD and GH-replacement therapy on bone quality assessed by a quantitative ultrasound (QUS) technique at the proximal phalanges of the hand. DESIGN: Growth and QUS data of 68 subjects (50 males and 18 females) aged 5-18 yr with isolated GHD were retrospectively examined. A cross-sectional series of 120 observations was collected and compared with data obtained from a control population (1227 healthy children, 641 males and 586 females, aged 3-16 yr). METHODS: QUS variables amplitude- dependent speed of sound (AD-SoS) and bone transmission time (BTT) were assessed by the sonographic device DBM Sonic BP IGEA. Height and weight measurements were performed according to standard techniques. In patients, skeletal age (SA) was determined by Tanner-Whitehouse method (3rd version). RESULTS: Before treatment height, SA, ADSoS and BTT were reduced in patients. Height SD score (SDS), SA SDS, AD-SoS SDS, and BTT SDS improved during treatment. Significant associations of both AD-SoS and BTT with age, SA, height, and therapy duration were observed. Using multivariate regression models the disease state, SA, and height proved to be significant variables in predicting BTT and AD-SoS. CONCLUSIONS: QUS measurements adjusted for body size and skeletal maturity in GHD patients seem to be only slightly reduced. A body size and skeletal maturity adjustment should be incorporated in studies on bone mass in GHD children and adolescents. A non-invasive technique such as QUS technology opens new perspectives.

Genetic abnormalities and CNS tumors: report of two cases of ependymoma associated with Klinefelter's Syndrome (KS).

OBJECTS: Genetic syndromes associated with ependymoma are uncommon, with the exception of NF2. We describe two cases of ependymoma presenting with Klinefelter's Syndrome (KS) as co-morbid condition. MATERIALS AND METHODS: The first patient was diagnosed for KS during pregnancy; he also presented a thyroid agenesis and a deficit of methyltetrahydrofolate reductase (MTHFR); at 30 months of age he was operated on for a grade II ependymoma of IV ventricle; after a multiple-stage surgery, he underwent oral chemotherapy and stereotactic radiotherapy, but after 15 months he presented a local recurrence and died. The second patient was diagnosed for KS at the age of 16 months; at 10 years of age, due to back pain, he underwent an MRI, which showed a cauda equine tumor. He underwent surgery and radiotherapy. Histology was of mixopapillary ependymoma. CONCLUSION: In a review of literature, various neoplasms have been described in association with KS. To our knowledge, these are the first two cases reported of ependymoma associated to KS. A retrospective study of 44 monoinstitutional ependymoma cases demonstrated association with genetic syndromes in 22%.

Turner's syndrome.

Turner syndrome (TS) is the most common sex-chromosome abnormality in females. Short stature and hypogonadism are the classical clinical findings. The spontaneous final height (FH) ranges between 139 and 147 cm, representing a growth deficit of about 20 cm with respect to the unaffected population. GH therapy improves FH and should be started during childhood at a high dose of about 1 IU/kg/week (range 0.6-2 IU/kg/week). Some authors advocate combined therapy with an anabolic steroid at various doses (e.g. oxandrolone 0.05-0.1 mg/kg/day). This treatment results in a significantly increased FH, a large proportion of treated girls reaching a FH of more than 150 cm. Gonadal function is compromised during adolescence in about 80% of girls with TS, whilst in about 20% pubertal development occurs spontaneously. Oestrogen therapy should be started at the age of 13-14 years in hypogonadic patients; early onset of treatment (before 12 years) seems to compromise FH. Other concerns in these patients are fertility and osteopenia.

Unresolved problems in optimal therapy of pubertal disorders in oncological and bone marrow transplanted patients.

Specialised clinics for the long-term follow-up of survivors from childhood cancer have developed over recent years. The problems encountered among patients who received multiple chemotherapy and radiotherapy can be challenging and require high expertise and close collaboration among different professionals (e.g. oncologists, endocrinologists, radiotherapists, psychologists). Endocrine disorders are often seen, particularly among those who received cranial radiotherapy or gonadotoxic chemotherapy; puberty can be affected and the spectrum of disorders may range from precocious or accelerated puberty to delayed, arrested or even absent pubertal development. Growth impairment can be multifactorial and growth hormone deficiency is an important but probably not the only factor involved. Many questions remain about the optimal management of this group of young patients. In the consensus guidelines that follow the overview an attempt is made to help optimise patients' growth and puberty by suggesting practical clinical approaches to some of the most challenging issues.

Longitudinal distance standards of fetal growth. Intrauterine and Infant Longitudinal Growth Study: IILGS.

BACKGROUND: Most ultrasonographic fetal growth norms are derived from cross-sectional data or from longitudinal data treated as coming from cross-sectional studies, although only longitudinal models may detect particular aspects of fetal growth shape, such as peak of growth velocity. MATERIALS AND METHODS: The sample included 238 singleton normal pregnancies. All the fetal traits under study (biparietal diameter, occipito-frontal diameter, head circumference, femur diaphysis length and abdomen circumference) were measured according to the classical ultrasound techniques by highly trained operators. Individual growth profiles (made up of 5 to 9 measures) were taken at regular intervals between the 12th and the 40th week. Growth norms were traced by means of a two-stage linear model: (I) a 3-constant fetal growth function was fitted to each individual growth profile, (II) growth centiles were based upon the weighted mean and covariance matrix of the individual growth constants. RESULTS: Fetal growth curves show a sigmoid shape with a maximum slope (i.e. a peak growth velocity) which occurs earlier for head diameters (about 18 weeks), later for femur diaphysis length (20 weeks) and abdomen circumference (22 weeks). During intrauterine growth, all traits show a progressive increase in interindividual variability, which is more prominent for abdomen circumference. CONCLUSION: The mathematical model applied to a large sample of growth profiles provided a satisfactory description of the individual fetal development and its biological variability, and allowed the construction of longitudinal distance standards useful for clinical purposes.

[Neonatal anthropometry and early differentiations in embryo-fetal growth]. / Dimensioni neonatali e differenziazione precoce della crescita embrio-fetale.

It is well known that the biologic variability in fetal size increases as pregnancy advances, although the embryonal and early fetal growth patterns as well as how early and how much the genetic, hormonal and environmental variables play a role in its modulation are still debated. It is accepted that growth in the first trimester of pregnancy is relatively uniform, with a minimal biologic variability; this variability may be underestimated, because the transversal studies do not permit the identification of the growth pattern. The aim of this work is to evaluate, by means of a longitudinal study, the time of embryo-fetal growth differentiation related at neonatal anthropometric measurements. We evaluated 238 neonates (123 female; 115 male) delivered at term after low risk, uncomplicated pregnancies. The subjects were divided into three tertles (low, mid and high) according to birth weight, length and head circumference. For each tertle, distance curves, velocity curves, and rate of increase were calculated by using respectively fetal abdominal circumference (for birth weight), fetal femural length (for neonatal length) and fetal head circumference (for neonatal circumference). The distance curves showed clear differences among the tertles only in the second period of pregnancy, whereas the velocity curves showed clear differences among tertles already in the first 12 weeks. The value of growth rates were similar for all the variables during the entire time considered. This study shows that the anthropometric differences between newborn subgroups exist already at the end of the first trimester of pregnancy and, in physiological conditions, until the end of pregnancy. The anthropometric differences observed early in our study, at twelve weeks of gestational age, are still present at the end of pregnancy and let us suppose a very early expression of the genetic potential for individual growth.

Use of the new US90 standards for TW-RUS skeletal maturity scores in youths from the Italian population.

Recently, 1997, Tanner and co-workers provided a new scale converting TW-RUS standard maturity scores to skeletal age for European North American youths (US90). The aim of the present study was to test if the accuracy of TW-RUS bone age assessments in the Italian population could be improved by evaluating the estimates obtained with this new scale in comparison with other standards (UK60: original British series, B70: Belgian series and S80: Spanish series). 1,831 hand-wrist radiographs (Italian healthy subjects aged from 8 to 16.8 years) were evaluated. The US90 reference values are resulted the most suitable TW-RUS standards. Therefore, it seems useful to update the reference values of TW-RUS SMS in Italian youths, using this new scale.

Trichorhinophalangeal syndrome type I in monozygotic twins discordant for hip pathology. Report on the morphological evolution of cone-shaped epiphyses and the unusual pattern of skeletal maturation.

A pair of monozygotic twin girls with trichorhinophalangeal syndrome type I (TRPS I), followed from 8.3 to 16.1 years of age, is described. Both showed typical dysmorphic features and severe short stature, but only one had Perthes-like changes in the right capital femoral epiphysis. The radiographic findings and evolutionary changes of phalangeal cone-shaped epiphyses (PCSE) of the hands are illustrated in this report. The unusual bone maturation and growth of the twins are also described. Both presented poor growth and delayed bone age until about 13 years, followed by marked acceleration of bone age and stunted pubertal height spurt.

Long-term follow-up of skeletal dysplasia in thalassaemia major.

We report skeletal changes due to deferoxamine (DF) in 15/29 patients with transfusion-dependent thalassaemia major (TM), followed longitudinally for growth assessment. Clinically the earliest signs were decline in height and/or sitting height growth rate, leg and back pain with restricted movement and limb deformity. Radiologically metaphyseal and spinal changes were seen in 5 subjects and vertebral lesions alone in 10. The metaphyseal changes were mild, moderate or severe and affected all long bones, but were most pronounced at wrists and knees. They progressed from widening of the growth plate and defects of metaphyseal margins to appearance of radiolucent pseudocystic areas and, in severe cases, of cupped, rickets-like metaphyses. The spinal changes proceeded from osseous defects of ventral upper and lower edges of vertebrae and biconvex contours of end-plates to platyspondyly with decreased vertebral body height. After DF dose reduction, metaphyseal changes regressed in 2 patients, while they progressed in 3, requiring corrective surgery for severe valgus knee. Spinal abnormalities either remained unchanged or progressed. Final height was very short in patients with spondylometaphyseal lesions, short and disproportionate in patients with only spinal involvement.

Fetal growth velocity: kinetic, clinical, and biological aspects.

With the aim of determining fetal growth kinetics, prenatal data were analysed which had been longitudinally collected in the framework of a perinatal growth survey. The sample comprised 238 singleton normal pregnancies, selected in Genoa and Turin (between 1987 and 1990), and repeatedly assessed by ultrasound scans (five to nine per pregnancy). Five morphometric traits were considered: BPD (biparietal diameter), OFD (occipitofrontal diameter), HC (head circumference), FDL (femur diaphysis length) and AC (abdomen circumference). Growth rate seemed to increase in the early part of the second trimester, and decrease subsequently: velocity peaks were steeper and earlier for head diameters and circumference (about 18 weeks) than for femur length (20 weeks) and abdomen circumference (22 weeks). Velocity standards were traced using a longitudinal two-stage linear model: this ensures unbiased description of the shape of the growth curve, even when growth kinetics are asynchronous, and efficient estimation of the outer centiles--the most useful for diagnostic purposes.

The phenotype of a 45,X male with a Y/18 translocation.

In this report, we describe a male infant with a 45,X karyotype; the entire short arm and the centromere of the Y chromosome were translocated onto the short arm of chromosome 18, resulting in an unbalanced dicentric chromosome. Breakpoints were identified by in situ fluorescence hybridization (FISH) on the proximal Yq11 and 18p11.2. Both Y and 18 centromeric alphoid sequences were identified on the derived 18 chromosome. Clinical features were compatible with 18p- syndrome and no Turner stigmata were present in our propositus. Short stature was likely to be related to the deletion of 18p and/or Yq, where a gene involved in stature determination has been located proximal to a gene involved in spermatogenesis (AZF).

Dose-dependent effects of deflazacort and prednisone on growth and skeletal maturation.

Deflazacort (DFZ), a new glucocorticoid which has recently become available, is expected to have less negative effects on growth and skeletal maturation than conventional steroids, in children treated long term. To verify this hypothesis, a multicentre trial was organized to evaluate the effects of DFZ vs prednisone (PDN) on statural growth and skeletal maturation in a group of prepubertal children requiring glucocorticoid therapy for at least 6 months/year. The results of an analysis of 55 children (aged 3-12 years, 24 with connective tissue disease and 31 with kidney glomerular disorders) treated randomly with either DFZ (31 patients) or PDN (24 patients) and followed for a mean period of about 22 months (16 months under steroid therapy) are presented. The observation period was split up into the following phases according to dose and administration regimen: daily, high-dose therapy; alternate-day, high-dose therapy; low-dose therapy; suspension of treatment. The height, statural age, skeletal age and body weight velocities (i.e. the increase/year) were considered. In spite of large intra-individual and inter-individual variability, the results suggest that DFZ has a lower negative impact on indicators of growth. During high-dose daily administration, the height velocity tended to be lower in the PDN group and the impairment of skeletal maturity was significantly less for DFZ than for PDN. During an alternate-day regimen, height velocity was slightly higher in the PDN group and skeletal age velocity was higher in the DFZ group. It seems that steroid effects on statural growth and bone maturation occur in parallel.(ABSTRACT TRUNCATED AT 250 WORDS)

FELS, Greulich-Pyle, and Tanner-Whitehouse bone age assessments in a group of Italian children and adolescents.

Assessments of skeletal maturity are usually made from handwrist radiographs, using either the method of Greulich-Pyle (GP) or Tanner-Whitehouse (TW). Recently the FELS method has been developed, and it represents a potentially valuable approach to skeletal age assessment. The present study evaluates the accuracy and precision of FELS skeletal age assessments compared with ratings by the GP and TW methods in a group of Italian children and adolescents. The hand-wrist radiographs of subjects (171 males and 156 females 1 to 17 years) referred to the "Istituto di Puericultura e Medicina Neonatale" of the University of Genoa in Italy between 1985 and 1990 were assessed according to each method. Two independent observers rated the radiographs and one observer reassessed them after 6 months or more. GP estimates rather closely match chronological age; TW ratings tend to overestimate chronological age by 7-9 months around puberty, mainly in boys; and the FELS method tends to overestimate chronological age by amounts that increase with chronological age. The degree of precision of skeletal age assessments is within the usually accepted limits. Higher levels of repeatability and reproducibility are apparent for the FELS estimates than for GP and TW assessments. Thus, skeletal maturity is likely to be adequately interpreted by the FELS method as well as by the more commonly used GP and TW systems in Italian children and adolescents. © 1992 Wiley-Liss, Inc.

Comparison of growth retarding effects induced by two different glucocorticoids in prepubertal sick children: an interim long-term analysis.

The low interference with growth expected in child for a cortisol analogue, deflazacort (DFZ), prompted us to verify if DFZ could affect growth less than prednisone (PDN). An interim analysis relative to 27 girls and 38 boys (out of 100 expected) aged 3-12 yrs, after a median period of 14 mo.s is reported. Children with connective tissues (CTD) and glomerular disorders (KD) were randomly allocated to DFZ or PDN. Anthropometric measurements and maturity ratings were performed. Mean daily doses of PDN (or DFZ equivalent), from 0.57 to 0.64 mg/kg (DFZ 0.92 to 0.94 mg/kg) to induce control and from 0.19 to 0.39 mg/kg (DFZ 0.34 to 0.36 mg/kg) to maintain disease under control were given in CTD and KD, respectively. The increase in bone age delay over time was significantly greater than for PDN (-4.0 mo/yr) than DFZ (-1.8 mo/yr) in the overall group. The increases in statural age delay and loss over time were significantly greater than for PDN (-5.9 and -5.9 mo/yr) than DFZ (-2.4 and -2.4 mo/yr), only in children with "taller" midparents. Although doses of DFZ 1.1-1.8 times those of PDN were given, growth retardation in PDN-treated children was nevertheless 2.3-2.5 times that in DFZ-ones.