Long-term Complications after facial trauma: literature review.

Long-term complications after facial trauma: literature review. PROBLEMS/OBJECTIVES: In facial trauma medicine, many articles deal with necessary treatment in an acute setting to achieve the best possible functional and aesthetic outcome for the patient. It is difficult, if not impossible, to ensure long-term follow-up with these patients. Often the long-term outcome is not reported and, if so, most data are retrospective. The goal of this article is to present an overview of known data concerning complications after the initial healing processes are completed. METHODOLOGY: Literature review Results: An overview of complications is presented and discussed. Comparison of results is not possible due to the large number of factors influencing outcome (age, multiple injuries, severity of trauma, etc.). Post-trauma complications are inevitable, but it is agreed that, in any case, the initial treatment of trauma is important in determining optimal functional and aesthetic outcomes. Close collaboration between different specialisms is essential to achieve good patient management, control and follow-up. CONCLUSIONS: Long-term post-trauma complications are inevitable, but it is important to be aware of these complications so as to provide the best possible treatment.

Epiglottitis and related complications in adults. Case reports and review of the literature.

Since the introduction of Haemophilus influenza type b (Hib) vaccinations in child immunisation programmes, a significant decline in the incidence of epiglottitis has been observed among children. However, recent studies show an increase in the incidence of adult epiglottitis without any identifiable predominant causative pathogen. Adult disease is known to have a slightly more protracted course. Vigilance is nevertheless indicated due to the risk of a rapidly evolving airway obstruction. In this paper, we discuss three recent cases of adult epiglottitis in a tertiary care unit, and review of the current literature. In two of these cases frank abscess formation was already present at the initial evaluation. In spite of very close monitoring, with securing of the airway, administration of intravenous antibiotics and drainage of the abscess, the eldest patient died. The other patients recovered completely.

A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).

Opitz-Kaveggia syndrome is a rare X-linked multiple congenital anomalies and intellectual disability disorder caused by the recurrent p.R961W mutation in the MED12 gene. Twenty-three affected males from 10 families with this mutation in the MED12 gene have been described so far. Here we report on a new family with three affected cousins, in which we identified a novel MED12 mutation (p.G958E). This is the first demonstration that other mutations in this gene can also lead to Opitz-Kaveggia syndrome. The clinical phenotype of these three new cases is reviewed in detail and compared with the previous reported cases.

[Placing of oral implants in patients using bisphosphonates]. / Het plaatsen van implantaten bij patiënten die bisfosfonaten gebruiken.

Dentists are with increasing frequency confronted with patients who are being treated with bisphosphonates for certain bone diseases, hypercalcaemia, and bone metastases of solid malignancies. A side effect of the use of bisphosphonates is osteonecrosis of the jaw. Bisphosphonate-induced osteonecrosis of the jaw occurs mainly after treatment with intravenous bisphosphonates and to a much lesser extent after oral administration of bisphosphonates. The question remains whether oral implants can be safely placed in patients using bisphosphonates. A survey of the literature shows that the risk ofosteonecrosis of the jaw and loss of oral implants is not increased when the implants are placed within 3 years after starting treatment with oral bisphosphonates. After this period there is the possibility of a slightly increased risk of complications. The possibility of complications is higher in patients receiving the intravenous bisphosphonates, and, therefore, elective surgical treatments is not advocated.

[A six-year-old girl with a swelling of the mandibula on both sides]. / Dubbelzijdige zwelling van de onderkaak bij een meisje van 6 jaar.

A six-year-old girl was referred by her dentist because ofa tender swelling of the mandible on both sides. On intra-oral examination afirm swelling on the buccal side of both first permanent lower molars was noticed. Bucally of the teeth 36 and 46 a pocket depth of more than 10 mm was measured. On conventional X-rays no abnormalities were found. Additional CT-scan examination showed a well-described radiolucent lesion bucally of the teeth 36 and 46 compatible with the diagnosis of a bilateral juvenile paradental cyst. The lesions were enucleated without removal of the associated teeth, The terminology ofparadental cysts, as well as epidemiological, clinical, radiological, histopathological, and treatment aspects are further described.

A case-control study of the relation between plasma selenium and asthma in European populations: a GAL2EN project.

BACKGROUND: There is evidence that selenium levels are relatively low in Europe and may be falling. Low levels of selenium or low activity of some of the enzymes dependent on selenium have been associated with asthma. METHODS: The GA(2)LEN network has organized a multicentre case-control study in Europe to assess the relation of plasma selenium to asthma. The network compared 569 cases in 14 European centres with a diagnosis of asthma and reporting asthma symptoms in the last 12 months with 576 controls from the same centres with no diagnosis of asthma and no asthmatic symptoms in the last 12 months. RESULTS: All cases and controls were selected from the same population defined by age and place of residence. Mean plasma selenium concentrations among the controls ranged from 116.3 microg/l in Palermo to 67.7 microg/l in Vienna and 56.1 microg/l among the children in Oslo. Random effects meta-analysis of the results from the centres showed no overall association between asthma and plasma selenium [odds ratio (OR)/10 microg/l increase in plasma selenium: 1.04; 95% confidence interval (CI): 0.89-1.21] though there was a significantly protective effect in Lodz (OR: 0.48; 95% CI: 0.29-0.78) and a marginally significant adverse effect in Amsterdam (OR: 1.68; 95% CI: 0.98-2.90) and Ghent (OR: 1.35; 95% CI: 1.03-1.77). CONCLUSION: This study does not support a role for selenium in protection against asthma, but effect modification and confounding cannot be ruled out.

Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment.

BACKGROUND: Age-related hearing impairment (ARHI) is the most common sensory impairment in older people, affecting 50% of those aged 80 years. The proportion of older people is increasing in the general population, and as a consequence, the number of people affected with ARHI is growing. ARHI is a complex disorder, with both environmental and genetic factors contributing to the disease. The first studies to elucidate these genetic factors were recently performed, resulting in the identification of the first two susceptibility genes for ARHI, NAT2 and KCNQ4. METHODS: In the present study, the association between ARHI and polymorphisms in genes that contribute to the defence against reactive oxygen species, including GSTT1, GSTM1 and NAT2, was tested. Samples originated from seven different countries and were combined into two test population samples, the general European population and the Finnish population. Two distinct phenotypes for ARHI were studied, Z(low) and Z(high), representing hearing in the low and high frequencies, respectively. Statistical analysis was performed for single polymorphisms (GSTM1, GSTT1, NAT2*5A, NAT2*6A, and NAT2*7A), haplotypes, and gene-environment and gene-gene interactions. RESULTS: We found an association between ARHI and GSTT1 and GSTM1 in the Finnish population sample, and with NAT2*6A in the general European population sample. The latter finding replicates previously published data. CONCLUSION: As replication is considered the ultimate proof of true associations in the study of complex disorders, this study provides further support for the involvement of NAT2*6A in ARHI.

Familial aggregation of tinnitus: a European multicentre study.

INTRODUCTION AND AIM: Tinnitus is a common condition affecting approximately 20% of the older population. There is increasing evidence that changes in the central auditory system following cochlear malfunctioning are responsible for tinnitus. To date, few investigators have studied the influence of genetic factors on tinnitus. The present report investigates the presence of a familial effect in tinnitus subjects. METHODS: In a European multicentre study, 198 families were recruited in seven European countries. Each family had at least 3 siblings. Subjects were screened for causes of hearing loss other than presbyacusis by clinical examination and a questionnaire. The presence of tinnitus was evaluated with the question "Nowadays, do you ever get noises in your head or ear (tinnitus) which usually last longer than five minutes". Familial aggregation was tested using three methods: a mixed model approach, calculating familial correlations, and estimating the risk of a subject having tinnitus if the disorder is present in another family member. RESULTS: All methods demonstrated a significant familial effect for tinnitus. The effect persisted after correction for the effect of other risk factors such as hearing loss, gender and age. The size of the familial effect is smaller than that for age-related hearing impairment, with a familial correlation of 0.15. CONCLUSION: The presence of a familial effect for tinnitus opens the door to specific studies that can determine whether this effect is due to a shared familial environment or the involvement of genetic factors. Subsequent association studies may result in the identification of the factors responsible. In addition, more emphasis should be placed on the effect of role models in the treatment of tinnitus.

[A girl with hereditary myotonia due to an exceptional sodium channel mutation]. / Een meisje met een erfelijke myotonie door een bijzondere mutatie in het natriumkanaal.

A 22-month-old girl had cramps and stiffness of her muscles. After medical history, physical examination and an EMG, a short differential diagnosis based on the symptoms of myotonia was made. Initially, the symptoms were incorrectly assumed to be due to Becker's myotonia, an autosomal recessive condition caused by a mutation in the chloride channel. Molecular analysis did not show a defect in the chloride channel, but instead a defect in the sodium channel of the muscle fibre. Since defects in the sodium channel are responsible for several myotonic diseases, further analysis was necessary. Based on knowledge of the structure and mechanism of the sodium channel and study of literature on cases involving the identical mutation, the diagnosis 'potassium-aggravated myotonia' (PAM) was made. Re-evaluation of the patient showed that her symptoms fitted the diagnosis 'myotonia permanens', the severest form of PAM. She was treated with mexiletine. In myotonia several features can give direction to the diagnosis, including sensitivity to temperature and exercise, and family history. However, it is often necessary to use molecular analysis to be able to diagnose the disease correctly, make a prognosis and predict the risk of recurrence as well as to formulate a treatment plan.

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

Array CGH (comparative genomic hybridization) screening of large patient cohorts with mental retardation and/or multiple congenital anomalies (MR/MCA) has led to the identification of a number of new microdeletion and microduplication syndromes. Recently, a recurrent copy number variant (CNV) at chromosome 16p11.2 was reported to occur in up to 1% of autistic patients in three large autism studies. In the screening of 4284 patients with MR/MCA with various array platforms, we detected 22 individuals (14 index patients and 8 family members) with deletions in 16p11.2, which are genomically identical to those identified in the autism studies. Though some patients shared a facial resemblance and a tendency to overweight, there was no evidence for a recognizable phenotype. Autism was not the presenting feature in our series. The assembled evidence indicates that recurrent 16p11.2 deletions are associated with variable clinical outcome, most likely arising from haploinsufficiency of one or more genes. The phenotypical spectrum ranges from MR and/or MCA, autism, learning and speech problems, to a normal phenotype.

1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter.

MR spectroscopy results in a mild case of guanidinoacetate methyltransferase (GAMT) deficiency are presented. The approach differs from previous MRS studies in the acquisition of a chemical shift imaging spectral map showing gray and white matter with the corresponding spectra in one overview. MR spectroscopy revealed guanidinoacetate (GAA) in the absence of creatine. New is that GAA signals are more prominent in gray matter than in white. In the prevailing view, that enzyme deficiency is localized in liver and pancreas and that all GAA is transported into the brain from the blood and the cerebrospinal fluid, this would be compatible with a more limited uptake and/or better clearance of GAA from the white matter compared to the grey matter.

Case-control study to identify melanoma risk factors in the Belgian population: the significance of clinical examination.

BACKGROUND: Although numerous studies have evaluated risk factors associated with cutaneous malignant melanoma (CMM), no such study has been carried out in Belgium. OBJECTIVES: To identify individuals who are at high risk of developing malignant melanoma in Belgium, which could enhance the efficacy of screening interventions and avoid unnecessary skin inspections. STUDY DESIGN/SETTING/SUBJECTS: We prospectively included patients who were diagnosed with invasive malignant melanoma between 1998 and 2001 at the Department of Dermatology in a case-control study. Controls were selected from the outpatient dermatology clinic. Participants were interviewed and clinically examined by a dermatologist. We asked questions concerning most known risk factors associated with malignant melanoma such as phenotypical and skin characteristics, and environmental and lifestyle exposures. To adjust for confounding variables and to estimate odds ratios (ORs) and 95% confidence intervals (CIs), a multivariate model was used. RESULTS: Although sunburn in childhood and substantial occupational solar exposure were modestly, but significantly, associated with malignant melanoma risk, clinical examination yielded several stronger risk factors. In a multivariate model, which adjusted for age, gender and skin phototype, phenotypical characteristics such as skin, hair and eye colour were significantly associated with the development of malignant melanoma. In the multivariate model, people with three or more atypical naevi were at more than 10-fold risk of developing a malignant melanoma (> or = 3 atypical naevi; adjusted OR = 11.40, 95% CI = 4.79-17.53) compared to those without an atypical naevus. The presence of one or more palpable naevi on the upper extremities or having solar lentigines increased the odds of developing malignant melanoma at least twofold. CONCLUSIONS: In Belgium, risk factors associated with malignant melanoma appear to be in accordance with previous studies. To assess peoples' risk profile, clinical skin examination is likely to yield the most important sporadic malignant melanoma risk factors. Therefore, focusing screening campaigns on individuals with predefined findings on skin self-examination may increase its efficacy.