Occupational silica exposure in an Australian systemic sclerosis cohort.

OBJECTIVE: To determine the frequency of self-reported occupational exposure to silica in SSc patients enrolled in the Australian Scleroderma Cohort Study, and to compare the disease characteristics of the silica-exposed patients with those of the non-exposed patients. METHOD: Data collected over a 12-year period from 1670 SSc patients were analysed. We compared the demographic and clinical characteristics of those who reported occupational silica exposure with those who did not. A subgroup analysis of male patients was performed, as well as a multivariable analysis of correlates of silica exposure. RESULTS: Overall, 126 (7.5%) of the cohort reported occupational silica exposure. These individuals were more likely to be male (73 of 231, i.e. 31.6% males exposed) and to have worked in mining and construction industries. Those who reported silica exposure were younger at the onset of SSc skin involvement [odds ratio (OR) 0.9, P = 0.02], of male gender (OR 14.9, P < 0.001), have joint contractures (OR 1.8, P = 0.05) and have higher physical disability as defined by scleroderma HAQ (OR 1.4, P = 0.01). CONCLUSION: The highest percentage of silica exposure was found in males. These patients were more likely to have the presence of certain clinical manifestations and Scl-70 antibody, which is known to confer a poor prognosis. These findings support the association between occupational silica exposure and the subsequent development of SSc. Further investigation is required to describe the range of clinical manifestations and disease course, including prognosis and treatment response, in those diagnosed with occupationally induced SSc compared with idiopathic SSc.

Educating children and families about growth hormone deficiency and its management: part 1.

The management of growth hormone deficiency is long term. Children may be diagnosed at pre-school age meaning relationships with the paediatric endocrine team may last more than 15 years. The education role of the paediatric endocrine nurse specialist is essential in working in partnership with families over a long period of time. Children and young people have changing needs for information to help them understand their condition and growth hormone deficiency treatment as they grow up. Developing positive working relationships with parents, children and young people enables their developmental needs and the context in which they live their lives to be central to any educational planning for them. Addressing developmental needs when providing information on growth hormone deficiency to children and young people reinforces the need for education to be an ongoing process and not a one-off event. This is part one of a two-part article. The second part will be published in the March issue of Nursing Children and Young People and it focuses on educating children, young people and their parents about the condition, and includes case studies.

Serum SmD autoantibody proteomes are clonally restricted and share variable-region peptides.

Recent advances in mass spectrometry-based proteomic methods have allowed variable (V)-region peptide signatures to be derived from human autoantibodies present in complex serum mixtures. Here, we analysed the clonality and V-region composition of immunoglobulin (Ig) proteomes specific for the immunodominant SmD protein subunit of the lupus-specific Sm autoantigen. Precipitating SmD-specific IgGs were eluted from native SmD-coated ELISA plates preincubated with sera from six patients with systemic lupus erythematosus (SLE) positive for anti-Sm/RNP. Heavy (H)- and light (L)-chain clonality and V-region sequences were analysed by 2-dimensional gel electrophoresis and combined de novo database mass spectrometric sequencing. SmD autoantibody proteomes from all six patients with SLE expressed IgG1 kappa restricted clonotypes specified by IGHV3-7 and IGHV1-69 H-chains and IGKV3-20 and IGKV2-28 L-chains, with shared and individual V-region amino acid replacement mutations. Clonotypic sharing and restricted V-region diversity of systemic autoimmunity can now be extended from the Ro/La cluster to Sm autoantigen and implies a common pathway of anti-Sm autoantibody production in unrelated patients with SLE.

Surgical complications after immediate nephrectomy versus preoperative chemotherapy in non-metastatic Wilms' tumour: findings from the 1991-2001 United Kingdom Children's Cancer Study Group UKW3 Trial.

PURPOSE: To compare surgical complication rates after immediate nephrectomy versus delayed nephrectomy following preoperative chemotherapy in children with non-metastatic Wilms' tumour enrolled in UKW3, both in randomised patients and in those for whom the treatment approach was defined by parental or physician choice. METHODS: Records for all patients enrolled into UKW3 were reviewed. Any record of tumour rupture or surgical complication was extracted and comparisons made between the two treatment strategies in both populations of randomised and non-randomised patients. RESULTS: Of 525 children enrolled, 205 patients were randomised to either immediate nephrectomy (n=103) or pre-operative chemotherapy followed by delayed nephrectomy (n=102). Of the 320 children not randomised, data were available on 189 cases treated with immediate nephrectomy and 103 treated with pre-operative chemotherapy. There were significantly fewer surgical complications in randomised children given pre-operative chemotherapy before surgery compared to children undergoing immediate nephrectomy (1% vs. 20.4%, P<0.001); this difference was most marked for tumour rupture (0% vs. 14.6%, P<0.001). CONCLUSIONS: Delayed nephrectomy for Wilms' tumour, preceded by pre-operative chemotherapy was associated with fewer surgical complications compared with immediate nephrectomy.

Age and ethnic differences in volumetric breast density in new zealand women: a cross-sectional study.

Breast cancer incidence differs by ethnicity in New Zealand (NZ) with Maori (the indigenous people) women having the highest rates followed by Pakeha (people primarily of British/European descent), Pacific and Asian women, who experience the lowest rates. The reasons for these differences are unclear. Breast density, an important risk factor for breast cancer, has not previously been studied here. We used an automated system, Volpara™, to measure breast density volume from the medio-lateral oblique view of digital mammograms, by age (≤50 years and >50 years) and ethnicity (Pakeha/Maori/Pacific/Asian) using routine data from the national screening programme: age; x-ray system and mammography details for 3,091 Pakeha, 716 Maori, 170 Pacific and 662 Asian (total n = 4,239) women. Linear regression of the natural logarithm of absolute and percent density values was used, back-transformed and expressed as the ratio of the geometric means. Covariates were age, x-ray system and, for absolute density, the natural log of the volume of non-dense tissue (a proxy for body mass index). Median age for Pakeha women was 55 years; Maori 53 years; and Pacific and Asian women, 52 years. Compared to Pakeha women (reference), Maori had higher absolute volumetric density (1.09; 95% confidence interval [95% CI] 1.03-1.15) which remained following adjustment (1.06; 95% CI 1.01-1.12) and was stronger for older compared to younger Maori women. Asian women had the greatest risk of high percentage breast density (1.35; 95% CI 1.27-1.43) while Pacific women in both the ≤50 and >50 year age groups (0.78; 95% CI 0.66-0.92 and 0.81; 95% CI 0.71-0.93 respectively) had the lowest percentage breast density compared to Pakeha. As well as expected age differences, we found differential patterns of breast density by ethnicity consistent with ethnic differences seen in breast cancer risk. Breast density may be a contributing factor to NZ's well-known, but poorly explained, inequalities in breast cancer incidence.

Successful operative management of an asymptomatic chest lesion in hereditary multiple exostosis.

This report outlines the management of a large intrathoracic lesion found in a 2-year-old girl with hereditary multiple exostosis. The lesion arose from the right eighth rib and comprised two separate osteochondromata that had coalesced into a single lesion and caused significant deformity to the chest wall. Aside from the deformity, the lesions were asymptomatic. Further growth of the lesions could cause respiratory complications, worsening of the visible deformity and, being lesions of the axial skeleton, bear an increased risk of malignant change. The lesions and the attached eighth rib were removed operatively and the patient recovered without complications. We demonstrate a place for the operative management of asymptomatic lesions in anticipation of future difficulties or malignant changes.

Foreskin preputioplasty and intralesional triamcinolone: a valid alternative to circumcision for balanitis xerotica obliterans.

BACKGROUND: We previously reported our short-term experience of foreskin preputioplasty as an alternative to circumcision for the treatment of foreskin balanitis xerotica obliterans (BXO). In this study, we aimed to compare this technique with circumcision over a longer period. METHODS: Between 2002 and 2007, boys requiring surgery for BXO were offered either foreskin preputioplasty or primary circumcision. The preputioplasty technique involved triradiate preputial incisions and injection of triamcinolone intralesionally. Retrospective case-note analysis was performed to identify patient demographics, symptoms, and outcomes. RESULTS: One hundred thirty-six boys underwent primary surgery for histologically confirmed BXO. One hundred four boys opted for foreskin preputioplasty, and 32, for circumcision. At a median follow-up of 14 months (interquartile range, 2.5-17.8), 84 (81%) of 104 in the preputioplasty group had a fully retractile and no macroscopic evidence of BXO. Of 104, 14 (13%) developed recurrent symptoms/BXO requiring circumcision or repeat foreskin preputioplasty. In the circumcision group, 23 (72%) of 32 had no macroscopic evidence of BXO. The incidence of meatal stenosis was significantly less in the foreskin preputioplasty group, 6 (6%) of 104 vs 6 (19%) of 32 (P = .034). CONCLUSION: Our results show a good outcome for most boys undergoing foreskin preputioplasty and intralesional triamcinolone for BXO. There is a small risk of recurrent BXO, but rates of meatal stenosis may be reduced.

South Australian Scleroderma Register: autoantibodies as predictive biomarkers of phenotype and outcome.

AIM: To investigate the relationship between scleroderma-specific autoantibodies and clinical phenotype and survival in South Australian patients with scleroderma. METHOD: Two cohorts of patients were studied from the South Australian Scleroderma Register (SASR). In the first, the sera of 129 consecutive patients were analyzed for anticentromere (ACA), anti-Scl70, anti-RNA polymerase III, anti-U1RNP, anti-Th/To, anti-Pm/Scl, anti-Ku and anti-fibrillarin antibodies using the Euroline immunoblot assay. Statistical analysis was performed to look for a significant association between specific antibodies and various clinical features. In the second cohort survival from first symptom onset was analyzed in 285 patients in whom the autoantibody profile was available, including ACA, Anti-Scl70, anti-U1RNP and anti-RNA polymerase III measured using multiple methods. Survival analysis compared mortality between different groups of patients with specific antibodies. RESULTS: ACA, Th/To and Ku antibodies were associated with limited scleroderma, Scl70 and RNA Pol III antibodies were associated with diffuse scleroderma and antibodies to U1RNP were associated with overlap syndrome. Significant associations between Scl70 and interstitial lung disease (P = 0.004), RNA Pol III and renal crisis (P = 0.002), U1RNP and pulmonary hypertension (P = 0.006) and Th/To and pulmonary hypertension (P = 0.034) were seen. Trends were observed with an increased frequency of lung disease with Pm/Scl and Th/To and an increased frequency of myositis with Ku. The presence of Scl70, RNA Pol III and U1RNP was associated with significantly reduced survival as compared with patients with ACA. CONCLUSIONS: Scleroderma-specific autoantibodies are associated with clinical phenotype and survival.

Interventions to increase rescreening for repeat chlamydial infection.

BACKGROUND: Repeat infection with Chlamydia trachomatis following treatment is common and increases the risk of sequelae. Despite clinical guidelines recommending rescreening within 3 months of treatment, rescreening rates remain low. We undertook a systematic review to identify studies that compared rates of rescreening for repeat chlamydial infection between patients receiving and not receiving an intervention. METHODS: We searched Medline, EMBASE, and conference Web sites from 2000 to September 2010 using variations of the terms "chlamydia" and "rescreening" and "intervention." We used meta-analysis to calculate the overall relative risk (RR) effect on rescreening rates by study design and strategy type. RESULTS: We identified 8 randomized controlled trials (RCTs) and 4 controlled observational studies, all conducted in the United States. Four RCTs assessed mailed screening kits ± reminders, with an average effect estimate of 1.30 (95% confidence interval [CI]: 1.01-1.50); 2 RCTs assessed motivational interviewing ± reminders with a summary effect of 2.15 (95% CI: 0.92-3.37); one RCT evaluated the effect of reminders with a RR of 9.67 (95% CI: 1.31-71.31), and another RCT assessed the effect of a $20 patient incentive with a RR of 1.16 (95% CI: 0.62-2.17). Three controlled observational studies assessed reminder strategies with RRs of 1.97 (95% CI: 1.76-2.21), 1.01 (95% CI: 0.66-1.55), and 1.88 (95% CI: 1.58-2.24)-a summary effect was not calculated due to significant heterogeneity; and one controlled observational study assessed the promotion of clinical guidelines with a RR of 1.35 (95% CI: 0.96-1.90). CONCLUSION: The review suggests that the use of mailed screening kits is an important strategy to increase rescreening, reminder systems are promising, and motivational interviewing is worth investigation.

Inflammatory myofibroblastic tumor of the pancreas: a case report of 2 pediatric cases--steroids or surgery?

Inflammatory pseudotumors also termed inflammatory myofibroblastic tumors (IMTs) are rare, benign, solid lesions of unclear etiology more usually found in the lung and very rarely in the pancreas. We report 2 cases and outline our management for each. The first case was treated surgically, whereas the second was treated with high-dose steroids. This represents the first reported case whereby steroid treatment has been successful in pancreatic IMT.

A giant ovarian cyst in a neonate.

BACKGROUND: Antenatally diagnosed abdominal cysts are common, and frequently are ovarian in origin, which usually regress spontaneously. Surgery is indicated in the infantile period in case of very large, persisting or symptomatic cysts. Many surgeons feel that watchful waiting can be justified in newborns with simple and complex cysts. CASE: We present a neonate with an ovarian cyst diagnosed antenatally by ultrasound (US) and showing persistent enlargement within 3 months after birth when reached a diameter of 13 cm. Assessment and treatment is described. CONCLUSION: The extremely large, non-resolving ovarian cysts in neonates present a major challenge for clinicians and should be treated by surgery to avoid complications. We advocate laparotomy and cystectomy when possible to avoid unnecessary loss of functional ovarian tissue.

Pediatric columnar lined esophagus vs Barrett's esophagus: is it the time for a consensus definition.

We describe the clinical, endoscopic, and histological features of all cases of Barrett's esophagus (BE) diagnosed at our institution between 2000 and 2007 following the criteria of the British Society of Gastroenterology. This society defines BE as a segment of columnar metaplasia (CLO) (whether intestinalized or not) of any length, visible endoscopically above the gastroesophageal junction and confirmed histologically. The diagnosis was challenged after immunostaining for Cdx2 (marker of intestinal differentiation). Information was collected with respect to age, symptoms, treatment, and endoscopic and histological features. Twelve children (10 males and 2 females) with a median age of 11.7 (2 to 17) years had been diagnosed with CLO-BE. Histology confirmed BE in 31 of 38 endoscopies. The initial diagnosis was reviewed according to Cdx2 results in 10 of 12 patients: Cdx2 strongly expressed in 4 cases with intestinal metaplasia (the diagnosis of BE was maintained); was negative in 4 other patients with "CLO" mucosa (reviewed diagnosis was that of expansion of the gastric cardia into the distal esophagus); and 2 patients had occasional Cdx2-positive cells showing cardia-type mucosa with goblet cells (early BE?). The estimated prevalence of CLO-BE in the pediatric population of South Yorkshire (United Kingdom) is 0.0024%, 0.8% in children referred for endoscopy and 5.5% in the children with reflux esophagitis. Characterization of the BE and confirmation of intestinal differentiation may have prognostic implications that can impact the surveillance program. Our results showed that intestinal differentiation as demonstrated with Cdx2 was only seen if goblet cells were present. A consensus definition and further studies to understand the molecular mechanisms involved in the development of BE at this age are needed.

A strategy for efficient handling of fresh tumor needle biopsies that allows histological and cytopathological assessment.

Neo-adjuvant chemotherapy prior to surgery is used in the management of many pediatric solid tumors, and diagnosis is therefore valuable and is frequently made by percutaneous needle biopsy. We describe a method that enhances tissue preservation and obtains a sample for rapid cytopathological assessment. Biopsies are placed in Ham's F(10) culture's medium in theatre and transferred to pathology. The biopsies are retrieved from the medium and dealt as before (submit to cytogenetics; fix in glutharaldheyde; snap frozen at -80 degrees C and routine histology). An equal amount of 90% alcohol is then added to the Ham culture's medium fluid received from theatre before performing a cytospin preparation and a cell clot. We used this method in the diagnosis of 16 tumors demonstrating that this allows a more efficient handling of the biopsy, makes possible a same day diagnosis, enhances the quality of the immunohistochemistry and maximizes the amount of tissue available for diagnosis.

Ruptured splenic cavernous hemangioma in a neonate.

We present a case of a term neonate with hypovolemic shock after spontaneous vaginal delivery. Hemodynamic instability persisted despite resuscitation with packed red cells, fresh frozen plasma, and platelets. An ultrasound scan at 48 hours after birth followed by a computed tomographic scan demonstrated a splenic lesion and hemoperitoneum. She underwent an emergency laparotomy and splenectomy for splenic rupture. Histologic findings demonstrated a ruptured cavernous hemangioma of the spleen. Exsanguinating intraabdominal hemorrhage in the newborn infant is rare. The diagnosis and management, with particular reference to splenic cavernous hemangioma and splenic rupture, is discussed.

An ovarian tumour with a potential appendiceal origin.

A 14-year-old girl underwent left oopherectomy for a multicystic ovarian mass. Histology revealed this to be an intestinal type mucinous borderline tumour (IMBT). In view of this, a semi-urgent laparoscopic appendicectomy was carried out. The appendix was histologically normal. IMBT of the ovary is a mucinous tumour with atypical proliferation of the goblet cell containing epithelium. It is known to occur simultaneously with tumours of the appendix. Paediatric surgeons need to be aware of this rare tumour and when operating on any ovarian pathology should always inspect the peritoneal cavity for mucinous deposits and examine the appendix.

Experience of bedside preformed silo staged reduction and closure for gastroschisis.

AIM: The purpose of this study was to assess the effectiveness of routine staged reduction and closure at the bedside, using preformed silos with no general anesthesia (PSnoGA), compared to emergency operative fascial closure (OFC) under general anesthesia for gastroschisis (GS). METHODS: A retrospective matched case-control analysis of neonates with GS was performed between 1990 and 2004 inclusively. Assessment included demographics, method of closure, days on ventilator, days to first enteral feed, days to full oral feeds, days on parenteral nutrition, length of hospital stay, and complications. RESULTS: Sixty-five patients with GS were treated in our institution between 1990 and 2004. Thirty-five underwent OFC, 4 had Bianchi ward reduction, and 26 received PSnoGA. Seventeen patients with bowel perforation, atresia, ward reduction, medical complications necessitating ventilation, or any other condition requiring urgent surgical intervention were excluded from the analysis. Patients were well matched for gestation and birth weight. Forty-eight patients (OFC = 27 and PSnoGA = 21) were compared by using Mann-Whitney U test. Median days on ventilator (4 vs 0; P < or = .0001) was significantly reduced, but there was no difference for days to full oral feeds (26 vs 31; P = .26), days on parenteral nutrition (25 vs 30; P = .28), and length of stay (32 vs 36; P = .32), respectively. Complications were similar for both groups. CONCLUSIONS: PSnoGA has outcomes statistically similar to OFC, although days on ventilator are significantly reduced. Slow reduction of the bowel avoids abdominal compartment syndrome and closure may be achieved without fascial sutures. PSnoGA is performed at the bedside and aims to avoid general anesthesia, a period of ventilation, and out-of-hours operating, thereby reducing costs. A prospective, multicenter, randomized control trial is needed to evaluate the effectiveness of PSnoGA.

Growth assessment: how do we measure up?

Measurement of children's height and weight at regular intervals is important for identifying growth problems as well as for planning health promotion interventions for those at risk from under or over nutrition. Opportunistic measurement is recommended when children are seen by healthcare professionals for other reasons. Identification of variations in practice around measurement of height and weight in a children's unit led to the development of guidelines, purchase of new equipment, implementation of educational strategies and introduction of a growth link nurse role. Repeat audit revealed that these approaches did not bring about the desired changes in practice. Growth assessment is a quick, non invasive procedure that can provide valuable information about the general health and well being of the child but is perceived as a low priority by some healthcare professionals. Different approaches are needed to improve this important aspect of health care for children.