Reduced quality of life in children with gastro-oesophageal reflux disease.

AIM: To assess self-reported Quality of life (QoL) in children with Gastro-oesophageal reflux disease (GORD) aged 5-18 and compare this with both disease and healthy control children in a prospective consecutive sample. METHODS: All children attending a tertiary paediatric gastroenterology clinic from February 2009 to May 2009 with GORD, chronic constipation and inflammatory bowel disease (IBD) were asked to complete the validated PedsQL generic QoL assessment (self-report) at their clinic appointment. The PedsQL considers physical, emotional, social and school domains and is scored from 0 to 100. Healthy children were also recruited from the same site. Groups were compared using the independent samples Student's t-test. RESULTS: A total of 184 children completed the assessment [103 (56%) male, mean age 10.7 years +/- 3.3] including 40 children with GORD, 44 with chronic constipation, 59 with IBD and 41 healthy children. QoL was significantly lower in the GORD group compared with both children with IBD (74 vs. 82) and healthy children (74 vs. 84), and was comparable to that of children with chronic constipation (74 vs. 74). CONCLUSIONS: Self-reported QoL in children with GORD attending a tertiary paediatric gastroenterology clinic is significantly reduced compared with both healthy children and children with IBD.

A case of giant prostatic hyperplasia.

Giant prostatic hyperplasia (GPH) is an uncommon pathologic entity with only 10 reported cases of prostate glands exceeding 500 g. We report the uncomplicated removal of a 526-g prostatic adenoma by simple retropubic prostatectomy.

Obturator neuropathy after laparoscopic pelvic lymphadenectomy.

A case of obturator nerve injury with delayed manifestation following laparoscopic pelvic lymphadenectomy is presented. While the incidence of obturator nerve injury does not appear to differ between open surgical and laparoscopic approaches, the laparoscopic approach demands unequivocal visualization of the nerve when utilizing electrocautery because of the risk of nerve injury from thermal conduction through apposed tissues.

Squamous cell carcinoma of the lacrimal sac.

Squamous cell carcinoma of the lacrimal sac is rare. We report a case of a 45-year-old Caucasian woman with a squamous cell carcinoma of the right lacrimal sac, initially presenting at an early stage. A critical review of the literature is also presented with specific regard to operative and postoperative management. Treatment of these lesions is predominantly surgical. The role of radiation therapy is not yet fully defined. Successful management requires a high index of suspicion as well as aggressive and early intervention.

Malignancy and chronic wounds: Marjolin's ulcer.

Malignancy in chronic wounds is not uncommon and has been reported as occurring in chronic scars of diverse causes. We report an unusual case of bilateral thermal injuries of the lower extremities that 40 years later presented as very large, painful, fungating wounds of both lower legs. After histologic confirmation of squamous cell carcinoma, eradication of the disease required amputations of both the lower extremities and reconstructive procedures. In addition, we discuss current theories regarding the mechanism of malignant degeneration in chronic wounds and evaluate treatment on the basis of information currently available in the literature.

The first 5-year follow up of distal antegrade continence enema stomas.

AIM: We investigated 5-year results of distal sites for antegrade continence enemas (DACE). METHODS: Patients with DACE sites placed more than 5 years previously were identified. Details of procedures were obtained. Parents, and patients over 18, were telephoned and asked to answer a standardised questionnaire. RESULTS: 31 patients were identified. Median age at DACE placement was 7 years (range 3-20). Median follow up was 92 months (range 66-145). 22 tubes were placed endoscopically, 7 were placed at open surgery and 2 at laparoscopic surgery. 28 responses to the telephone questionnaire were obtained. Of these, 15 were still using their DACE and 13 had stopped. Of those who had ceased washouts: 7 reported resolution of symptoms, 4 had a colostomy, 1 an ileostomy and 1 patient had abandoned their DACE. In patients using their stoma, washouts took a median of 5 min, with a median time to result of 25 min. 10 patients reported no soiling, 4 monthly and 1 daily soiling. Median satisfaction score was 8/10 (range 1-10/10). 24 (85%) said that they would recommend a DACE. CONCLUSIONS: This is the first report of 5-year follow up of a series of patients performing DACE washouts. The results are encouraging.

UK incidence of achalasia: an 11-year national epidemiological study.

AIM: To determine the incidence and examine the epidemiology of achalasia before the age of 16 years in the UK from 1998 to 2008. METHODS: 25 regional paediatric surgery referral centres were asked to provide demographic and epidemiological data on cases of childhood achalasia from 1998 to 2008. Incidence rates were calculated from national population estimates. The data collection method was validated in one centre. RESULTS: 228 patients from 24 centres were diagnosed with achalasia before 16 years in the UK from 1998 to 2008. The mean incidence from 1998 to 2008 was 0.18/10(5) children/year. Where additional data was provided (69-81% of cases) 56% of children were male and the mean age of diagnosis was 10.9 years. Logistic regression analysis showed a rising incidence, with an OR of 1.12 (95% CI 1.06 to 1.16) for having achalasia in each successive year. The validation of this methodology showed that 95% of true cases and no false cases were identified. CONCLUSIONS: The mean incidence of childhood achalasia in the UK from 1998 to 2008 is at least 0.18/10(5) children/year; this has risen over the last 11 years and compared to the only other study published in 1988.

Development and validation of a disease-specific quality-of-life measure for children with achalasia.

BACKGROUND: Achalasia is an uncommon oesophageal motility disorder occasionally affecting children. Children with achalasia can experience significant morbidity, and quality-of- life (QoL) has never been studied in this population. AIM: The aim was to develop a disease-specific quality-of-life (DS-QoL) measure for children with achalasia. METHODS: Item response theory methods were used to develop the DS-QoL measure. The construct validity of this measure was assessed by comparing items and domains with the generic PedsQL questionnaire. Reliability was assessed using Cronbach's alpha coefficient for internal consistency. RESULTS: 17 children completed the final DS-QoL measure, which consisted of 20 items in three domains. The completion rate for items was 99%. "Floor and ceiling effects" ranged from 0-19%. Construct validity was good with significant correlation between 2 domains and 2 items on the PedsQL. Reliability was excellent, with Cronbach's alpha coefficient ranging from 0.78-0.93. CONCLUSIONS: This DS-QoL measure is appropriate for use in children with achalasia and has shown good results in this validation study. Further work in higher numbers is necessary to determine discriminant validity and test-retest reliability.

Treatment of cleft palate associated with Robin sequence: appraisal of risk factors.

Mandibular hypoplasia, airway obstruction, and a typical wide U-shaped cleft palate comprise the Robin sequence. Although much has been written regarding the treatment of these patients in the neonatal period, the literature reveals little information regarding later care of the cleft palate in these patients. The purpose of this study is to examine patients with the Robin sequence and evaluate the risk of postsurgical problems and outcome related to the neonatal period. Thirty-six patients with the Robin sequence presenting from 1972 through 1990 were reviewed. A majority of patients had feeding and respiratory difficulties, to varying degrees, following birth. These problems were treated successfully by maneuvers ranging from positioning to two infants who eventually required tracheostomy. Thirty-four patients had palate repair. Age at repair averaged 16.2 months, and one third of patients had associated anomalies. Infants who experienced problems following palatoplasty were those who had histories of severe difficulties and complications in the early months of life. In addition, patients with associated congenital anomalies has significantly more problems at the time of palate repair than those without anomalies. Those patients with the Robin sequence, who historically had minimal difficulty following birth, experienced few complications at the time of palate repair. Of the 34 patients with repaired palates, 23 demonstrated sufficient follow-up to allow for evaluation of speech outcome. Satisfactory or normal speech production was noted in 65.4%. This is not significantly different from that observed in all patients undergoing cleft palate repair during this same time period (74.9%). Secondary pharyngoplasty procedures were required in 17.4%.(ABSTRACT TRUNCATED AT 250 WORDS)

Collective fear, individualized risk: the social and cultural context of genetic testing for breast cancer.

The purpose of this article is to provide a critical examination of two aspects of culture and biomedicine that have helped to shape the meaning and practice of genetic testing for breast cancer. These are: (1) the cultural construction of fear of breast cancer, which has been fuelled in part by (2) the predominance of a 'risk' paradigm in contemporary biomedicine. The increasing elaboration and delineation of risk factors and risk numbers are in part intended to help women to contend with their fear of breast cancer. However, because there is no known cure or foolproof prevention for breast cancer, risk designations bring with them recommendations for vigilant surveillance strategies and screening guidelines. We argue that these in effect exacerbate women's fears of breast cancer itself. The volatile combination of discourses of fear, risk and surveillance have significant ethical and social consequences for women's lives and well-being. Genetic testing decisions are made within this context; if nurses understand this context they can play an important role in helping women to cope with the anxiety and fear of breast cancer risk.

Retrograde ejaculation due to heterotopic erectile tissue.

We report a case of retrograde ejaculation due to an unusual prostatic urethral mass. The resected tissue was histologically indistinguishable from corpus spongiosum, and due to its location it was diagnosed as heterotopic erectile tissue. The embryological origin of this lesion is discussed.

Quantitation of NM23 expression in human prostate tissues.

The NM23 gene family (nm23-H1 and nm23-H2) has been reported as a measure of metastatic potential. The goal of this study was to discriminate nm23-H1 and nm23-H2 gene expression in benign and malignant human prostate tissue and to determine the relationship of their expression to tumor stages. Specimens included 5 benign prostatic hyperplasias (BPH), 11 primary prostate adenocarcinomas (CaP) (5 stage B, 5 stage C and 1 stage D1), 2 pelvic lymph nodes with metastases and 3 prostate cancer cell lines derived from metastatic lesions. Polymerase chain reaction analysis of mRNA (RNA/PCR) was used to amplify transcripts of both NM23 genes and a normalizing gene (c-N-ras) to determine the relative levels of expression. A significant difference was shown between the BPH specimens and the cell lines from metastatic prostate cancer for nm23-H2 expression (p = 0.037) and the nm23-H1/nm23-H2 gene expression ratio (p = 0.037). The nm23-H1/nm23-H2 ratio increased significantly (p = 0.026, tau-b = 0.377) from BPH, through the CaP stages, to the cell lines. The expression of nm23-H2 decreased significantly (p = 0.002, tau-b = -0.517) from BPH, through the CaP stages, to the cell lines. Thus, while nm23-H2 appears to be significant for characterizing stages of CaP, an understanding of the metastatic phenotype will require further analysis of both NM23 genes.

Primary orbital angiosarcoma: a case report.

PURPOSE: The pathogenesis, natural history, histopathology, and recommended treatment for orbital angiosarcoma are illustrated and reviewed. METHODS: Case report. RESULTS: A 71-year-old white male presented with bluish discoloration and swelling of the left medial canthal area. A fine needle aspiration and excisional biopsy with histopathologic examination was performed, which showed angiosarcoma. Pattern of growth was demonstrated radiographically and histopathologically, confirming primary orbital angiosarcoma. Subsequent wide surgical resection was carried out, with substantial reconstruction of the left orbital and periorbital area. The patient responded well to the surgery, and was free of tumor after six years of follow-up. CONCLUSION: Angiosarcoma is a rare and highly malignant tumor of epithelial origin. The aggressive nature of this tumor usually results in a high mortality rate despite treatment. However, early diagnosis and wide surgical excision has resulted in successful treatment of these tumors.

Tuberculous spondylitis as a complication of intravesical bacillus Calmette-Guerin therapy.

We report a case of tuberculous spondylitis following intravesical bacillus Calmette-Guerin (BCG) instillation. A 90-year-old male physician living in South Africa received an uncomplicated 6-week course of intravesical BCG (Japanese 172 strain) for high grade superficial bladder carcinoma. He experienced a sudden onset of debilitating lower back pain 16 months following this treatment. A lytic lesion involving the anterior T11 and T12 vertebral bodies was diagnosed and subsequently biopsied. An acid-fast organism was isolated after 3 weeks of incubation and was confirmed through deoxyribonucleic acid probe hybridization as a mycobacterium. High performance liquid chromatography analysis speciated the organism as Mycobacterium bovis BCG, proving that it was acquired through the intravesical therapy.