A case of severe obstructive sleep apnoea in Madelung's disease treated by lateral pharyngoplasty.

BACKGROUND: Madelung's disease is a rare disorder characterised by the presence of multiple, symmetric, non-capsulated fat masses in the face, neck and other areas of upper extremities. In some cases, severe clinical complications such as upper airway compression can occur. CASE REPORT: A 56-year-old man affected by Madelung's disease complained of snoring and severe daytime sleepiness. Polysomnography revealed severe obstructive sleep apnoea. An attempt to treat sleep apnoea by continuous positive airway pressure failed because of poor compliance. Functional expansion pharyngoplasty was carried out as an initial treatment. Marked improvement of neck movements and normalisation of somnographic parameters were observed at six months' follow up. CONCLUSION: Patients with Madelung's disease should be examined carefully for potential obstructive sleep apnoea. Although continuous positive airway pressure remains the treatment of choice, specific surgery can be used in those patients who cannot tolerate continuous positive airway pressure therapy.

The alexander surgical technique for the treatment of severe burns.

The extensive loss of skin in burned patients is a critical clinical condition, and the choice of an effective technique to cover and protect the damaged area has always been a challenge in the surgical field. Despite its wide clinical use, there is little data in the literature on using the Alexander technique to treat severe burns, while several studies have focused on alternative approaches. The present study aims to evaluate the effectiveness of the Alexander surgical technique on 117 patients with severe burns. The characteristics of the burned patients, factors related to etiology of burns as well as adverse prognostic factors and their incidence in discharged versus deceased patients were also taken into account. Finally, a comparison is made with an alternative surgical procedure described in the literature. Our results show a satisfactory level of survival for patients with severe burns surgically treated with the Alexander technique, accounting for 63% of all clinical cases reported here. This treatment is also less expensive and more rapid than the alternative approach we compared it with. The Alexander technique is a lifesaving method for the treatment of severe burns that provides a satisfactory chance of survival at lower cost than the alternative surgical procedure examined.

Une vaste perte de substance cutanée chez les brûlés détermine un état clinique critique, et le choix d'une technique efficace pour couvrir et protéger les zones détruites a toujours été un challenge chirurgical. Malgré sa large utilisation, il y a peu de références dans la littérature sur l'utilisation de la technique d'Alexander dans le traitement les brûlures graves, alors que différentes études insistent sur d'autres approches. Cette étude a pour but d'évaluer l'efficacité de la technique chirurgicale d'Alexander sur 117 patients présentant des brûlures graves. Les caractéristiques de ces brûlés (étiologie, facteurs pronostiques défavorables et leur incidence sur la sortie de l'hôpital) ont été prises en compte, comme celles des patients décédés. Enfin, la comparaison est faite avec les autres procédés alternatifs chirurgicaux décrits dans la littérature. Nos résultats montrent un taux satisfaisant de survie chez les patients présentant des brûlures graves traitées par la technique d'Alexander: 63% de tous les cas cliniques rassemblés ici. Le traitement est aussi moins cher et plus rapide que dans les techniques alternatives. La technique d'Alexander est une méthode de sauvetage pour le traitement des brûlures graves qui offre une chance satisfaisante de survie à un coût moindre que les autres techniques alternatives.

E-CADHERIN CODING GENE (CDH1) AND NONSYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE: IS THERE ANY ASSOCIATION?

Epithelial to Mesenchymal Transition (EMT) is an important process involved in cancer, embryogenesis and organ development. Its role in nonsyndromic cleft lip with or without cleft palate (NSCL/P) has been extensively investigated and successfully linked to the disease. In this study, we focused on a gene, CDH1, encoding for E-cadherin, a key protein in EMT. We carried out an association study on an Italian sample group, genotyping four single nucleotide variations within the CDH1 gene, in order to verify the potential role of this gene in NSCL/P etiology. Neither the haplotype nor the family-based association test revealed any association between the genotyped SNPs and the pathology. Our results demonstrate that, in our Italian sample study, the analyzed single nucleotide polymorphisms are not associated to NSCL/P.

Evidence of LEF1 fetal-maternal interaction in cleft lip with or without cleft palate in a consistent Italian sample study.

Epithelial mesenchymal transformation is considered a cardinal process in orofacial development. Several molecular players appear to be involved in this delicate mechanism; the activation of LEF1 transcription factor by transforming growth factor beta 3 seems to be a key step for the correct flow of events. The failure of orofacial processes during embryonic development may provoke cleft lip and/or cleft palate malformations. The scope of the present investigation was to verify whether genetic variants at LEF1 could influence the risk of orofacial clefting. The approach was a family based association study involving a total of 512 Italian patients and their parents, 401 having cleft lip with or without cleft palate (CL/P) and 111 with cleft palate only (CPO). Haplotype association analysis provided moderate evidence of an association with clefting (p 0.01). A log-linear likelihood-based method was used to verify maternal and foetal-maternal association. An association between the maternal genotype and the occurrence of CL/P was observed at two polymorphic loci, at rs10022956 (P = 0.0049) and rs10025431 (P = 0.0065) respectively, while a foetal-maternal effect modulating the risk of clefting was found at locus rs10025431 (P = 0.0071). These data further corroborate the importance of the mother's genotype with regard to susceptibility to malformations and early-onset diseases.

Study of the 12q13 region in nonsyndromic cleft lip with or without cleft palate.

The 12q13 region has been suggested as a candidate locus for orofacial cleft by different investigators. In the present study we tested the region for linkage with non syndromic cleft lip with or without cleft palate in a collection of 39 Italian multigenerational families, using microsatellite markers. No evidence of linkage was detected between the marker map and NSCLP under different mode of inheritance nor with a nonparametric method. Formal level of linkage exclusion, were obtained for each point of the map. Genetic heterogeneity and the different impact of the candidate locus among populations could explain conflicting results obtained in different studies.

No association between polymorphisms in cubilin, a gene of the homocysteine metabolism and the risk of non-syndromic cleft lip with or without cleft palate.

Epidemiological studies have correlated lower maternal periconceptional levels of plasma folate and cobalamin with increased risk of delivering offspring presenting congenital malformations such as cleft lip with or without cleft palate (CL/P) or neural tube defects. A number of genetic studies aimed at correlating these biochemical levels or the occurrence of malformations with specific genetic defects or polymorphisms have been successfully performed. The cubilin gene (CUBN) codes for a carrier that plays a crucial role in cobalamin cell internalization. CUBN polymorphisms were previously found to be associated with spina bifida occurrence. In this work, a family-based association study was performed to test CUBN involvement in CL/P. A sample of 391 CL/P triads was investigated with three single nucleotide polymorphisms mapping on the cubilin gene. Association tests indicated no significant association between CL/P and marker alleles or marker haplotypes. No evidence of maternal effect and imprinting were obtained. These data suggest that CUBN is not involved in CL/P onset in the investigated Italian population.

Study of ABCB1 multidrug resistance protein in a common orofacial malformation.

The onset of embryonic malformations is greatly determined by the intrauterine environment, conditioned by maternal lifestyle, diet, drugs and medication intake, in addition to both foetal and maternal genotypes. Maternal C677T MTHFR genotype has been identified as important factor in cleft lip with or without cleft palate (CL/P) etiology. In the present study we evaluated the possible interaction between maternal methylenetetrahydrofolate reductase (MTHFR) and foetal ABCB1 genotypes. ABCB1 gene codes for a drug-transport pump in charge to protect the cell by extruding a variety of harmful exogens, but with a reduced activity in a folate-restricted condition. Maternal 677T genotype is translated in a reduced folate availability for the developing embryo who consequently may becomes more exposed to external insults. A family based association analysis was performed to test the effect of ABCB1 polymorphisms in clefting, in the whole sample and in the stratified sample accordingly to maternal MTHFR genotype. No evidence of association between ABCB1 polymorphisms and CL/P was detected. This suggests that ABCB1 or ABCB1-MTHFR feto-maternal interaction could have no effect in orofacial clefting or could play a role in a limited number of cases.

Evidence of an involvement of TFAP2A gene in non-syndromic cleft lip with or without cleft palate: an Italian study.

Unraveling of factors involved in multifactorial diseases is a great challenge. Different approaches can be contemplate and applied to a variety of congenital malformations. In the present investigation TFAP2A has been considered a good candidate gene for nonsyndromic cleft lip with or without cleft palate (NSCLP) aetiology, basing on a sum of considerations. TFAP2A has been seen involved in orofacial development in mice; it is located in the NSCLP candidate region 6p24; it codes for a transcription factor which regulates expression of IRF6, a gene implied in NSCLP; finally, it is embroiled in the branchiooculofacial syndrome, that includes clefting as feature. A family based association analysis was performed with a sample study of 405 NSCLP triads. Evidence of association was obtained with both single marker and haplotype analyses, thus providing a support for TFAP2A in NSCLP aetiology.

GAMIAN-Europe/BEAM survey II: cross-national analysis of unemployment, family history, treatment satisfaction and impact of the bipolar disorder on life style.

OBJECTIVES: In a previous report, we described the global analysis of the 'GAMIAN-Europe/BEAM survey' carried out in order to gain a better understanding of what is like to live with a bipolar disorder (BD). We report here on a cross-national analysis of unemployment, family history, side effects, treatment satisfaction and the impact the disorder had and has on patients' perception of life style and quality of life. METHODS: The methodology has been described in the previous report [Morselli PL and Elgie R, J Bipolar Disord (2003) 5, 265]. The analysis was carried out on the data derived from eight countries (France, Italy, Holland, Portugal, Russia, Scotland, Spain and Sweden) on a total of 968 respondents. Data from three other countries were not evaluated because of the low number of respondents. RESULTS: The data suggest that the problems and difficulties encountered by bipolar patients are similar throughout the various European countries, regardless of the political, social or cultural settings. The disease leads to a very high rate of unemployment and has a significant negative impact on the perception of the quality of life, both within and outside the family. Data also indicate a high level of family history. Considering the many variables analysed in the different nations, trans-national differences are often present for a given specific issue. However, with regard to the core issues, no significantly different patterns appear to emerge for any given nation. The current attitude towards the disorder displays an increased insight about the condition on the part of patients. There is also a definite trend towards an improvement in their perception of the disease with an evident minor or reduced impact of the disorder on the life-style of patients. CONCLUSIONS: Globally, the data indicate that in all participating countries there has been, in recent years, a consistent improvement in the 'perceived quality of life' of the 'informed patient' with an increased insight into the condition and an enhanced rate of compliance. Nevertheless, a lot still needs to be done to markedly improve the 'social functioning' and the 'social integration' of those who suffer from BD. The data reported underline some of the issues that still represent a truly onerous burden for BD patients in whichever European country they may live.

Temporalis muscle hypertrophy: a new plastic surgery procedure.

Bilateral hypertrophy of the temporal muscle can give the impression of a harsh facial appearance that manifests itself as a morphopsychological conflict for the subject involved (Minotaur syndrome). This article describes a new facial aesthetic surgical procedure in the area of the temporal muscle. The author describes the surgical technique and the surgical instrument that he developed specifically for performing aesthetic contouring of the temporal area by reducing the muscle volume discrepancy ("myosuction"). The follow-up results of 11 cases demonstrated that this procedure renders valid results in the overall aesthetic reharmonization of the face and an improvement of individual psychological well-being.

Initiation of and adherence to treatment for mental disorders: examination of patient advocate group members in 11 countries.

OBJECTIVE: Greater understanding of the help-seeking process is needed to reduce the level of unmet need for mental health treatment. DESIGN: Cross-sectional mail survey. STUDY POPULATION: The study population consisted of 3,516 respondents to a survey of members of 14 patient advocacy groups in 11 countries. Respondents reported whether they initiated and adhered to the treatment most recently recommended to them. OUTCOMES: Crude and adjusted likelihoods of initiating and adhering to recommended treatment were studied. RESULTS: The vast majority of respondents reported initiating the most recent treatment recommended to them (94%), and most of those who initiated treatment also adhered to such treatment (83%). Predictors of initiation by the respondents included higher levels of education, having pharmacotherapy recommended to the respondent, and having received explanations about the diagnosis and treatment. Predictors of adherence to therapy included male gender, receipt of pharmacotherapy, and presence of insurance coverage. Side effects were an important reported reason for treatment dropout, with 44% of respondents reporting lifetime treatment dropout due to side effects. CONCLUSIONS: Successful initiation and adherence to mental health treatments depend critically on patients' knowledge and awareness, clinicians' communication skills, treatment side effects, and barriers such as lack of insurance. Further study and intervention focused on these modifiable factors are needed to improve the adequacy of mental health treatment.

Duration between onset and time of obtaining initial treatment among people with anxiety and mood disorders: an international survey of members of mental health patient advocate groups.

BACKGROUND: Self-report data obtained from members of advocate groups for patients with anxiety or mood disorders in 11 countries were used to study time to initial professional help-seeking after incident episodes. METHOD: Data were taken from 3516 self-administered questionnaires completed by members of GAMIAN, an international consortium of mental health patient advocate groups. Reports about age at onset and age at first seeking treatment were obtained retrospectively. RESULTS: Approximately 40% of respondents reported that they sought treatment in the same year as the first onset of their disorder. The median delay in help-seeking was 8 years for the remainder of respondents. Synthetic cohort analysis suggests that delays have decreased in recent cohorts. However, time to initial help-seeking in all cohorts and all countries was found to be inversely related to age at onset. CONCLUSIONS: Although caution is needed in generalizing the results beyond members of patient advocate groups, the key patterns found here were also found in previous analyses of general population surveys carried out in the US and Canada. The critical and consistent finding in all these studies is that presumably curable adolescents with early-onset disorders are, in effect, ignored by the treatment system in these countries. Aggressive outreach and intervention among early-onset cases might prove to be a cost-effective approach both to prevent the onset of secondary disorders and to improve success in treating primary disorders.

The anchor of the nasal ala in cleft lip-nose patients: a morphological description and a new surgical approach.

OBJECTIVE: The purpose of this article is to describe a morphological condition that is readily seen in both primary and secondary deformed noses of cleft patients and to present a new surgical technique to correct this specific deformity that afflicts the alar dome. This anomaly resembles a taut cord-like tissue that runs vertically from the pyriform aperture and is anchored onto the alar cartilage, thus impeding the cartilage's normal growth process. This new surgical technique releases the anchor and corrects the deformity of the nasal rim by using a triangular flap V-Y advancement technique. RESULTS: From 1994 to 1997, 88 cleft lip-nose cases were operated on by the author using the triangular flap V-Y advancement technique for releasing the anchor. Forty-two cases were primary repairs and 46 were secondary repairs. CONCLUSIONS: By studying the normal and pathological anatomy of the nose and its proportions, the surgeon can obtain ideas for new surgical corrective techniques that can be used to restore anatomical balance and harmony between the nose and the face. Only in the last 15 to 20 years has the plastic surgeon begun to be interested in primary rhinoplasty in cleft lip-nose patients. Within this time, many different techniques have been proposed. All primary and secondary cases that have undergone this specific technique for release of the anchor have shown good results for restoring the height of the alar dome's affected side to that of the noninvolved side, thus establishing a more anatomically balanced nose.

Present and future role of Mental Illness Advocacy Associations in the management of the mentally ill: realities, needs and hopes at the edge of the third millennium.

OBJECTIVE: The purpose of the present review is the analysis of the development and current status of the Mental Illness Advocacy Movement in the USA and in Europe, as well as of the role such a movement is playing in the management of the mentally ill. METHODS: Information on the issue has been collected via literature search and several personal inquiries and contacts with different Mental Illness Advocacy Groups in the USA and in Europe. RESULTS: The findings indicate that the Mental Illness Advocacy Movement is very alive and in full growth. Its role in the management of the mentally ill has become more and more important over the years. In several countries, it makes it possible to overcome some of the deficiencies of the National or Private Health Services. Thanks to the actions of the various Mental Illness Advocacy Groups, today, patients and families are more and better informed of their conditions and their rights. In many cases, this results in earlier diagnosis, better compliance and better outcomes. However, despite significant improvement in the status of the mentally ill patient, much still remains to be done. CONCLUSIONS: We need an improved dialogue with mental heath providers, public administrators, mental health policy makers, mass media and politicians. The dialogue between primary care team and the specialist must also be improved. A global alliance for action is needed to ensure better and more available services to those who suffer from mental disorders.

Prevalence of nightmares and their relationship to psychopathology and daytime functioning in insomnia subjects.

A representative sample of 5,622 subjects between 15 and 96 years of age from the noninstitutionalized general population of France were interviewed by telephone concerning their sleeping habits and sleep disorders. The interviews were conducted using the Sleep-Eval knowledge-based system, a nonmonotonic, level 2 expert system with a causal reasoning mode. Questions investigated nightmares, based on the Diagnostic and Statistical Manual, fourth edition (DSM-IV), definition, psychopathological traits, and included 12 other groups of information, including sociodemographics, sleep-wake schedule, daytime functioning, psychiatric and medical history, and drug intake. The data from 1,049 subjects suffering from insomnia were considered for this analysis. Bivariate analyses, logistic regression analysis using the method of indicator contrasts for the investigation of independent variables, and calculation of significant odds ratios were performed. Nightmares were reported in 18.3% of the surveyed insomniac population and were two times higher in women than in men. The following factors were found to be significantly associated with nightmares 1) sleep with many awakenings, 2) abnormally long sleep onset, 3) daytime memory impairment following poor nocturnal sleep, 4) daytime anxiety following poor nocturnal sleep, and 5) being a woman. There was a strong association between the report of nightmares in women and the presence of either a depressive disorder, anxiety disorder, or both disorders together. When the effects of major psychiatric disorders were controlled for, nightmares were significantly associated with being a woman, feeling depressed after a poor night's sleep, and complaining of a long sleep latency. Nightmares can lead to a negative conditioning toward sleep and to chronic sleep complaints. Considering the frequency of nightmares in an adult insomniac population and the significant relationship between nightmares and certain subgroups, nightmares should receive more attention in patients, especially women complaining of disrupted sleep, as high rates of psychiatric disorders were found in this specific group.

Surgical maxillary expansion: a new minimally invasive technique.

This paper describes the author's surgical maxillary expansion technique using a 2 mm osteotome. The use of this osteotome avoids the classical mucoperiosteal incision, thus a less traumatic and invasive procedure is performed. From 1992 to 1995, 24 surgical osteotomy cases were performed using this minimally invasive technique. Successful maxillary expansion was obtained in 23 cases. If the minimally invasive technique is unsuccessful, it can be converted into a traditional technique procedure during surgery, thus neither an anatomical nor a technical compromise will be required. Both the past and present literature concerning various theories as to which suture line is primarily involved in producing resistance against maxillary expansion is reviewed. From his personal experience, the author has seen that the maxillary midline suture does not play a primary role in permitting maxillary expansion but instead he found the zygomatic-maxillary and pterygoid-palatine sutures to be of primary importance.

Causes and problems of nonresponse or poor response to drugs.

The lack of (or poor) response to drugs has very important medical, social and economic consequences today. An unsatisfactory response to treatment implies not only a worsening or prolongation of the pathological state, but also prolonged hospitalisation, longer withdrawal from social and active life, and waste of community resources. Poor response to drugs has many and varied causes, among which 4 major categories can be identified: pharmacokinetic, cellular, genetic and medical. After a brief description of the terminology, the phenomena of tachyphylaxis, tolerance and drug resistance are analysed and critically described on the basis of the available evidence. Whenever possible, alternative or operative behaviours aimed at reducing the incidence of the above phenomena are commented on. On the question of medical causes, irrational prescriptions and poor compliance with the prescribed regimen stand as two major issues whose prevalence is worrying. In order to limit the waste of professional responsibility and economic resources, efforts aimed at reducing the present insufficiencies are needed at organisational and educational levels.