Blood pressure, height, weight and body mass index of primary school students in a low socio-economic district in Turkey.

AIM: This study was conducted to evaluate the growth and blood pressure measurements of the students. BACKGROUND: School health services are important to evaluate, protect and to improve the health status of the students. This study was conducted to evaluate the growth and blood pressure measurements of the students who were registered in a primary school with low socio-economic level in Kayseri Province in Türkiye between 1 April 2004 and 30 May 2004. The data were collected using questionnaire and health-screening forms. FINDINGS: It was determined that the average age was 9.77 +/- 2.41 in girls and 10.16 +/- 14.70 in boys. It was observed that the average height was 137.95 +/- 14.70 cm, and the average weight was 33.07 +/- 10.08 kg for all students. The girls between 10 years and 12 years old had a better average body mass index (kg/m(2)) (BMI) compared with boys. Boys between 6 years and 9 years old had a better BMI than the girls. The difference between the groups was considered statistically important (P = 0.006 and P = 0.002, respectively). Furthermore, 4.9% of the students were underweight and 2.2% of the students were obese. It was thought that there was a positive correlation among height, weight, BMI, age and the blood pressure values; and as BMI and age increased, so did the blood pressure value. CONCLUSION: Cooperation and dialogue need to be established among the school directorate, the families and the students to promote and encourage proper growth development and nutrition of the students within the school health services.

Age associated increase in the prevalence of chromosome 22q loss of heterozygosity in histological subsets of benign meningioma.

Chromosome 22q loss of heterozygosity (LOH) is the most common allelic loss in benign meningioma and is thought to be the earliest initiating event in meningioma formation. We used published data and logistic regression to evaluate the association of 22q LOH with age at diagnosis in 318 transitional, fibroblastic, and meningothelial meningiomas. After adjustment for anatomical location, the odds ratio of 22q LOH per year of age was >1 in each histological type of meningioma, and was significantly >1 in transitional and fibroblastic meningioma. This finding is compatible with involvement of the neurofibromatosis 2 tumour suppressor gene, NF2, on chromosome 22q in the high incidence of benign meningioma in the elderly.

Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes.

In recent years the use of radiation treatment for benign tumours has increased with the advent of stereotactic delivery and, in particular, single high dose gamma knife therapy. This has been particularly true for benign CNS (central nervous system) tumours such as vestibular schwannoma, meningioma, pituitary adenoma, and haemangioblastoma. While short term follow up in patients with isolated tumours suggests this treatment is safe, there are particular concerns regarding its use in childhood and in tumour predisposing syndromes. We have reviewed the use of radiation treatment in these contexts with particular regard to malignant transformation and new tumour induction. This review indicates that much more caution is warranted regarding the use of radiation treatment for benign tumours in childhood and in tumour prone conditions such as the neurofibromatoses.

The role of octreotide versus placebo in the prevention of post-ERCP pancreatitis.

BACKGROUND/AIMS: To evaluate the effectiveness of a single administration of intravenous octreotide infusion in preventing post-ERCP pancreatitis and progressing hyperamylasemia. METHODOLOGY: One hundred and twenty (71 female, 59 male) patients who had been diagnosed with pancreaticobiliary pathology were included in this study. 100 microgram (0.1 mg) octreotide diluted in 60 mL normal saline solution administered intravenously 60 minutes prior to the procedure and continued during the procedure and after the procedure. Placebo was given in 87 patients. Patients were assessed clinically and serum amylase level was also measured before the procedure and 3, 12, and 24 hours after the procedure. We define clinical pancreatitis as serum amylase level greater than 4-5 times in conjunction with clinical assessment. RESULTS: Hyperamylasemia was assessed in 14 of 33 (42.4%) administered octreotide patients. Clinical findings of pancreatitis were observed in 5 of these 14 (11.5%) patients. Hyperamylasemia was also assessed in 41 of 87 (47.1%) administered placebo patients. Clinical findings of pancreatitis were observed in 10 of these 41 (11.5) patients. There were no significant differences between the groups, statistically (p > 0.05) (Pearson chi-square test). CONCLUSIONS: The results of this trial indicate that a single administration of intravenous octreotide infusion does not prevent ERCP-induced pancreatitis and effect serum amylase level.

Age related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms.

It has been suggested that somatic mutations that accumulate due to an age related decline in the efficiency of DNA repair mechanisms might contribute to the increased incidence of cancer in older people. However, there is little direct evidence for this phenomenon. The spectra of germline and somatic mutations can be compared in cancer genes that cause inherited tumour syndromes and sporadic tumours, respectively. In addition, mosaic patients reflect the nature of mutations that occur in early development. Hence, we hypothesised that the "temporal mutation record" of a human cancer gene might provide insight into mechanisms of mutagenesis in the germline, in early development, and in adulthood. We compared the ratio of frameshift to nonsense mutations in three diseases that are related to the NF2 tumour suppressor gene: classic neurofibromatosis 2 (NF2), caused by germline NF2 mutations; mosaic NF2; and unilateral sporadic vestibular schwannoma (USVS), caused by somatic NF2 inactivation. Nonsense mutations predominated in both classic and mosaic NF2, but the ratio of nonsense to frameshift mutations was reversed in USVS. Moreover, in USVS patients, the ratio of somatic frameshift to nonsense mutations increased significantly with increasing age at diagnosis. This pattern is consistent with an age related decline in the efficiency of DNA repair mechanisms. Similar studies for other familial cancer genes may provide further evidence for this hypothesis.

Methodological issues in longitudinal studies: vestibular schwannoma growth rates in neurofibromatosis 2.

Four longitudinal studies of vestibular schwannoma (VS) growth rates in neurofibromatosis 2 (NF2) have yielded very different results on the relationship of VS growth rates to age. The studies had different patient eligibility criteria, indices of VS growth rates, VS volumetric methods, and sample sizes. We reanalysed data from two of the longitudinal studies and used data from the population based United Kingdom NF2 Registry to determine the most likely reason for the different results and the actual relationship of VS growth rates to age. We found that the eligibility criterion in one study caused selection bias for slower growing VS. The proper interpretation of the results from the four studies is that VS growth rates in NF2 are highly variable but tend to decrease with increasing age. Clinical trials for VS in NF2 should focus on younger patients because VS growth rates tend to decrease with increasing age, and because faster growing VS are more likely to be excised with increasing age than slower growing VS.

Multiple meningiomas: differential involvement of the NF2 gene in children and adults.

OBJECTIVE: To screen for NF2 mutations in people with meningiomas. METHODS: Lymphocyte or tumour DNA was analysed from 46 individuals from 36 families who presented with a meningioma at age < or =15 years without vestibular schwannoma (VS), or who had multiple meningiomas in adulthood before the diagnosis of VS. RESULTS: Eight of 13 people with meningioma and other features of neurofibromatosis 2 (NF2) had an identified constitutional NF2 mutation in blood DNA, but none of the other subjects had identified constitutional NF2 mutations. CONCLUSIONS: Constitutional NF2 mutations are the most likely cause of meningioma in children and in people with a meningioma plus other non-VS features of NF2. Mosaic NF2 may be the cause of about 8% of multiple meningiomas in sporadic adult cases, but there are other causes in the majority of other such patients and in multiple meningioma in families.

The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.

Neurofibromatosis 2 (NF2) patients with constitutional splice site NF2 mutations have greater variability in disease severity than NF2 patients with other types of mutations; the cause of this variability is unknown. We evaluated genotype-phenotype correlations, with particular focus on the location of splice site mutations, using mutation and clinical information on 831 patients from 528 NF2 families with identified constitutional NF2 mutations. The clinical characteristics examined were age at onset of symptoms of NF2 and number of intracranial meningiomas, which are the primary indices of the severity of NF2. Two regression models were used to analyse genotype-phenotype correlations. People with splice site mutations in exons 1-5 had more severe disease than those with splice site mutations in exons 11-15. This result is compatible with studies showing that exons 2 and 3 are required for self-association of the amino terminal of the NF2 protein in vitro, and that deletions of exons 2 and 3 in transgenic and knockout mouse models of NF2 cause a high prevalence of Schwann cell derived tumours.

Neurofibromatosis 2 (NF2) and malignant mesothelioma in a man with a constitutional NF2 missense mutation.

Neurofibromatosis 2 (NF2) is caused by inactivating mutations of the NF2 tumor suppressor gene. Somatic NF2 mutations also occur in a high proportion of human primary malignant mesotheliomas. We report an elderly man with NF2, malignant mesothelioma, and a constitutional NF2 missense mutation. The long latent period for mesothelioma in this patient (61 years) raises the possibility that the type of mutant NF2 allele could affect mesothelioma tumorigenesis or progression.

Neurofibromatosis type 2.

Neurofibromatosis type 2 is an often devastating autosomal dominant disorder which, until relatively recently, was confused with its more common namesake neurofibromatosis type 1. Subjects who inherit a mutated allele of the NF2 gene inevitably develop schwannomas, affecting particularly the superior vestibular branch of the 8th cranial nerve, usually bilaterally. Meningiomas and other benign central nervous system tumours such as ependymomas are other common features. Much of the morbidity from these tumours results from their treatment. It is now possible to identify the NF2 mutation in most families, although about 20% of apparently sporadic cases are actually mosaic for their mutation. As a classical tumour suppressor, inactivation of the NF2 gene product, merlin/schwannomin, leads to the development of both NF2 associated and sporadic tumours. Merlin/schwannomin associates with proteins at the cell cytoskeleton near the plasma membrane and it inhibits cell proliferation, adhesion, and migration.

Malignant peripheral nerve sheath tumours in neurofibromatosis 1.

BACKGROUND: Cross sectional studies have shown that 1-2% of patients with neurofibromatosis 1 (NF1) develop malignant peripheral nerve sheath tumours (MPNST). However, no population based longitudinal studies have assessed lifetime risk. METHODS: NF1 patients with MPNST were ascertained from two sources for our north west England population of 4.1 million in the 13 year period 1984-1996: the North West Regional NF1 Register and review of notes of patients with MPNST in the North West Regional Cancer Registry. RESULTS: Twenty-one NF1 patients developed MPNST, equivalent to an annual incidence of 1.6 per 1000 and a lifetime risk of 8-13%. There were 37 patients with sporadic MPNST. The median age at diagnosis of MPNST in NF1 patients was 26 years, compared to 62 years in patients with sporadic MPNST (p<0.001). In Kaplan-Meier analyses, the five year survival from diagnosis was 21% for NF1 patients with MPNST, compared to 42% for sporadic cases of MPNST (p=0.09). One NF1 patient developed two separate MPNST in the radiation field of a previous optic glioma. CONCLUSION: The lifetime risk of MPNST in NF1 is much higher than previously estimated and warrants careful surveillance and a low threshold for investigation.

Identification of recurrent regions of chromosome loss and gain in vestibular schwannomas using comparative genomic hybridisation.

BACKGROUND: Schwannomas are benign tumours of the nervous system that are usually sporadic but also occur in the inherited disorder neurofibromatosis type 2 (NF2). The NF2 gene is a tumour suppressor on chromosome 22. Loss of expression of the NF2 protein product, merlin, is universal in both sporadic and NF2 related schwannomas. The GTPase signalling molecules RhoA and Rac1 regulate merlin function, but to date only mutation in the NF2 gene has been identified as a causal event in schwannoma formation. METHODS: Comparative genomic hybridisation (CGH) was used to screen 76 vestibular schwannomas from 76 patients (66 sporadic and 10 NF2 related) to identify other chromosome regions that may harbour genes involved in the tumorigenesis. RESULTS: The most common change was loss on chromosome 22, which was more frequent in sporadic than in NF2 related tumours. Importantly, eight tumours (10%) showed gain of copy number on chromosome 9q34. Each of the two NF2 patients who had received stereotactic radiotherapy had non-chromosome 22 changes, whereas only one of eight non-irradiated NF2 patients had any chromosome changes. Three tumours had gain on 17q, which has also been reported in malignant peripheral nerve sheath tumours that are associated with neurofibromatosis type 1. Other sites that were identified in three or fewer tumours were regions on chromosomes 10, 11, 13, 16, 19, 20, X, and Y. CONCLUSIONS: These findings should be verified using techniques that can detect smaller genetic changes, such as microarray-CGH.

Comparison of the analgesic effect of betamethasone and diclofenac potassium in the management of postoperative haemorrhoidectomy pain.

BACKGROUND: Outpatient postoperative haemorrhoidectomy pain remains a difficult problem. The purpose of this study is to compare the results of the use of betamethasone with diclofenac potassium in postoperative pain following haemorrhoidectomy. MATERIAL AND METHODS: Closed haemorrhoidectomy was performed on 40 patients who were diagnosed grade III, grade IV haemorrhoid on physical examination. Patients were divided equally randomized into two groups, prospectively (betamethasone was used for 20 patients and diclofenac potassium was given for 20 patients). A verbal categorical scale was used to evaluate postoperative pain (for pain intensity, none=0, mild=1, moderate=2 and severe=3). RESULTS: The amount of narcotics required on postoperative first, second and third day were significantly less in the betamethasone group than in the diclofenac potassium group (P < 0.001) (Pearson Chi-Square test). CONCLUSION: Results indicate that use of betamethasone provides more effective analgesia than diclofenac potassium for postoperative pain management in the haemorrhoidectomy patient.

Noncurative total gastrectomy and oesophagogastrectomy in the treatment of advanced gastric carcinoma in a country with high incidence.

The role of extensive resectional surgery, including total gastrectomy for the palliation of advanced gastric cancer is controversial. This study shows operative results with complications and mortality occurring after total gastrectomy in patients with advanced stage gastric carcinoma. The study included 83 (48 males and 35 females, median age was 54.6 +/- 11.4 years) patients who underwent palliative total gastrectomy or oesophagogastrectomy (distal oesophagectomy in continuity with total gastrectomy). The reason for nonradical treatment was a too locally advanced disease. There was no case of carcinoma without serosal extension. Only five patients were free of histological lymph node metastases. A total of 72 (86.7%) early postoperative complications, including 17 self-limited wound complications, and 21 pulmonary complications were noted. Dehiscence of the oesophagojejunal anastomosis was noted in 7 patients, 3 of whom subsequently died. A total of 8 (9.6%) patients died in the postoperative period. The mean survival period was 12.8 +/- 0.8 months for all patients. It was 18.16 +/- 2.04 months in stage IIIA patients, 13.37 +/- 0.79 months in stage IIIB, and 7.51 +/- 0.97 months in stage IV patients. Total gastrectomy is a relatively safe procedure even when performing as a palliative procedure, with acceptable mortality and low lethal complication rate, and should be considered an alternative option in palliative treatment of advanced gastric cancer.

Immunohistochemical detection of schwannomin and neurofibromin in vestibular schwannomas, ependymomas and meningiomas.

In addition to schwannomas, patients with neurofibromatosis type 2 (NF2) frequently develop meningiomas and occasionally, ependymomas. Using DNA and protein analyses, we have shown NF2 gene mutations and lack of the gene product schwannomin in 29 schwannomas, 10 meningiomas, and in 7 ependymomas. We have raised antibodies (ABs) to peptides from the C-terminal (5990-AB) and N-terminal (5991-AB) domains of schwannomin. The ABs specifically detected a 65 kDa protein in a Schwann cell line and recognized schwannomin in the cytoplasm of Schwann cells (SCH), perineurial cells, and vestibular ganglion neurons. None of the 29 schwannomas were stained by the 5990-AB. Only 4 schwannomas were stained by the 5991-AB, indicating that most truncated schwannomins were unstable or not expressed in schwannomas. Seven of 10 meningiomas, including 3 tumors from NF2 patients, were not stained by either 5990-AB or 5991-AB. Only 2 of 7 ependymomas lacked schwannomin. Complete lack of schwannomin in these tumors supports a tumor suppressor function for schwannomin in some meningiomas and ependymomas. All tumors showed staining with an antibody to a C-terminal peptide of neurofibromin, confirming that full-length neurofibromin is present in these vestibular schwannomas, meningiomas, and ependymomas. The presence of schwannomin in some meningiomas and in the majority of ependymomas indicates that additional genes are likely to play a role in tumorigenesis of these tumors.

A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes.

We identified a missense mutation (T185-->C, Phe62-->Ser) in the neurofibromatosis 2 (NF2) gene in a family with mild and severe NF2 phenotypes. This mutation was previously reported in an unrelated family in which all affected individuals had mild phenotypes. These data demonstrate a lack of correlation between NF2 genotype and NF2 phenotype for this mutation.

Evaluation of clinical diagnostic criteria for neurofibromatosis 2.

BACKGROUND: Four sets of clinical diagnostic criteria for neurofibromatosis 2 (NF2) have been developed by groups of expert clinicians, but sensitivity has never been formally assessed. The sets of criteria differ for people without bilateral vestibular schwannomas, which are pathognomonic for NF2. OBJECTIVE: To empirically evaluate the four existing sets of clinical diagnostic criteria for NF2. METHODS: The study was based on 163 of 403 people in the United Kingdom NF2 registry (41%) who presented without bilateral vestibular schwannomas. The authors applied the sets of criteria to each person at initial assessment and at the most recent clinical evaluation (mean +/- SE length of follow-up, 13 +/- 1 years). RESULTS: In people with "definite NF2" and a negative family history of NF2, the 1987 US NIH and 1991 NIH criteria each identify 78% of people at the most recent clinical evaluation but 0% at initial assessment. The National Neurofibromatosis Foundation (NNFF) criteria and the Manchester criteria each identify higher proportions at both time points (NNFF criteria, 91% and 10%; Manchester criteria, 93% and 14%), but the proportions at initial assessment are still low. CONCLUSIONS: None of the existing sets of criteria are adequate at initial assessment for diagnosing people who present without bilateral vestibular schwannomas as having NF2, particularly people with a negative family history of NF2. The authors recommend that a single, revised set of diagnostic criteria be devised to replace all of the existing sets of criteria.

Presymptomatic diagnosis of neurofibromatosis 2 using linked genetic markers, neuroimaging, and ocular examinations.

Neurofibromatosis 2 (NF2) is an autosomal dominant disorder that causes nervous system tumors and ocular abnormalities such as early-onset lenticular opacities. We assessed the clinical spectrum of NF2 at the time of presymptomatic DNA diagnosis in at-risk first-degree relatives. We studied five multigeneration NF2 families with short tandem repeat markers near the NF2 gene (NF2); gadolinium-enhanced high-resolution magnetic resonance imaging (GE-MRI); and ocular, dermatologic, and neurologic examinations. Eleven of 31 asymptomatic at-risk first-degree relatives were predicted by segregation analysis to be NF2 mutation carriers. Nine of the 11 NF2 mutation carriers were clinically evaluated. Four mutation carriers, including a 7-year-old, had vestibular schwannomas, early-onset cataracts, or both. However, five mutation carriers did not have clinical abnormalities, including a 38-year-old with normal cranial and spinal GE-MRIs and a normal ocular examination. These results indicate that clinical abnormalities can be present in young, but absent in middle-aged, presymptomatic NF2 mutation carriers. By identifying presymptomatic NF2 mutation carriers, DNA diagnosis of NF2 can improve genetic counseling and clinical management, and possibly reduce psychosocial difficulties in at-risk individuals.

Neurofibromatosis 2 and malignant mesothelioma.

Mutations of the neurofibromatosis 2 (NF2) tumor suppressor gene cause the inherited disorder NF2 and are also common in malignant mesothelioma, which is not a characteristic feature of NF2. The authors report an asbestos-exposed person with NF2 and malignant mesothelioma. Immunohistochemical analysis of the mesothelioma confirmed loss of expression of the NF2 protein, and comparative genomic hybridization revealed losses of chromosomes 14, 15, and 22, and gain of 7. The authors propose that a person with a constitutional mutation of an NF2 allele is more susceptible to mesothelioma.

Acrodynia: exposure to mercury from fluorescent light bulbs.

Medical attention was sought for a 23-month-old toddler because of anorexia, weight loss, irritability, profuse sweating, peeling and redness of his fingers and toes, and a miliarial rash. The diagnosis was mercury poisoning, and an investigation of his environment disclosed that he had been exposed to mercury from broken fluorescent light bulbs. Acrodynia resulting from fluorescent bulbs has not been previously reported.