RESUMO
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.
Assuntos
Lipomatose Simétrica Múltipla/complicações , Faringectomia/métodos , Apneia Obstrutiva do Sono/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Polissonografia , Resultado do TratamentoRESUMO
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.
RESUMO
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.
RESUMO
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.
Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Fator 1 de Ligação ao Facilitador Linfoide/genética , Feminino , Genótipo , Humanos , Itália , Polimorfismo de Nucleotídeo Único , Gravidez , População Branca/genéticaRESUMO
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.
Assuntos
Cromossomos Humanos Par 12/genética , Fenda Labial/genética , Fissura Palatina/genética , Ligação Genética , Humanos , Itália , Repetições de Microssatélites/genética , População Branca/genéticaRESUMO
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.
Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Receptores de Superfície Celular/genética , Feminino , Haplótipos , Humanos , Itália , Masculino , Polimorfismo de Nucleotídeo Único , População Branca/genéticaRESUMO
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.
Assuntos
Membro 1 da Subfamília B de Cassetes de Ligação de ATP/genética , Fenda Labial/genética , Fissura Palatina/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Subfamília B de Transportador de Cassetes de Ligação de ATP , Feminino , Genótipo , Humanos , Itália , Masculino , Polimorfismo de Nucleotídeo Único , População Branca/genéticaRESUMO
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.
Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Fator de Transcrição AP-2/genética , Feminino , Haplótipos , Humanos , Itália , Masculino , Polimorfismo de Nucleotídeo Único , População Branca/genéticaRESUMO
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.
Assuntos
Músculo Temporal/cirurgia , Humanos , Hipertrofia , Masculino , Satisfação do Paciente , Cirurgia Plástica/métodos , Músculo Temporal/patologiaRESUMO
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.
Assuntos
Fenda Labial/complicações , Nariz/anormalidades , Rinoplastia/métodos , Cartilagem/anormalidades , Cartilagem/cirurgia , Fenda Labial/cirurgia , Humanos , Lactente , Nariz/cirurgia , Procedimentos Cirúrgicos Bucais/métodos , Retalhos CirúrgicosRESUMO
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.
Assuntos
Maxila/cirurgia , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Osteotomia/instrumentação , Técnica de Expansão Palatina , Adolescente , Adulto , Criança , Humanos , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Minimamente Invasivos/instrumentaçãoRESUMO
This paper reports a new technique for breast reduction in gynecomastia, removing the glandular parenchyma by pulling it through two incisions previously made for liposuction. These incisions are localized in the anterior axillary pilar area and on the right side of the inframammary fold. No complications have been reported in the 6-month follow-up visits of 11 patients. The technique makes it possible to eliminate the incision in the areolar area, avoiding its related complications. The advantage of this technique is that it removes the breast parenchyma without leaving any scars in the breast aesthetic unit, which, from a psychological point of view, has been greatly appreciated by our patients.
Assuntos
Ginecomastia/cirurgia , Mamoplastia/métodos , Feminino , Humanos , MasculinoRESUMO
A new osteotome is described that enables the creation of an osteotomy of the orbital floor by an intraoral approach. The osteotome is S shaped and 11 cm long, with a curved cutting edge that is inserted like a hook onto the orbital floor. The main body and striking head of the osteotome are located just outside of the oral cavity. The S shape of the handle allows for ease of both insertion and instrument use. The new osteotome makes it possible to follow a specifically designed osteotomy line along the orbital floor, ensuring a rapid and reliable procedure.
Assuntos
Craniotomia/métodos , Órbita/cirurgia , Osteotomia/instrumentação , Craniotomia/instrumentação , Desenho de Equipamento , HumanosRESUMO
The authors discuss the efficacy of the lateral calcaneal artery flap in repairing the calcaneal and malleolar regions. The lateral calcaneal artery flap is a safe flap, with constant vascularization represented by the lateral calcaneal artery and the external saphenous vein; the flap has a sensory nerve (the sural nerve) and is a sensory flap. Its use in the calcaneal and malleolar region is very safe, because the vascular pedicle is constant and surgical transfer easy.
Assuntos
Tornozelo/cirurgia , Calcanhar/cirurgia , Retalhos Cirúrgicos , Tornozelo/irrigação sanguínea , Tornozelo/inervação , Artérias , Calcanhar/irrigação sanguínea , Calcanhar/inervação , Humanos , Pele/irrigação sanguínea , Pele/inervação , Retalhos Cirúrgicos/métodosRESUMO
The Authors describe their experience with the use of 56 tissue expanders implanted in the head and neck regions of 45 patients observed in a follow-up of an average of 25 months. They emphasize the various possibilities of reconstructive surgery with the use of tissue expanders and the different mental approach required in order to organize surgical when this technique is employed. The criteria used in the selection of the type of tissue expanders is outlined and useful advice concerning the formulation of a surgical plan which employs the most favourable approach in making to avoid poor functional or aesthetic results or secondary complications is presented. Furthermore the surgical technique used to obtain adequate pockets for the insertion of tissue expanders in the different anatomical areas of the head and neck is described. The Authors affiem that in order to avoid damage to the surrounding neurovascular structures and to obtain good tissue expansion, the correct level of dissection is imperative. The options of using different anatomical areas during reconstructive surgery are discussed. For example, the insertion of a tissue expander in the forehead permits the availability of a large amount of usable tissue during nasal reconstruction, thus leaving the donor area without tension and with minimal scarring. Many different causes of baldness can be treated with the use of tissue expanders, such as posttraumatic injury, burns or infections. Tissue expansion can be utilized in the cheek area for the reconstruction of the lower eyelids, the paranasal and the mandibular area. Tissue expanders used in the cervical area can be utilized for reconstructive surgery of the lower lip or the mandibular area. In addition, the Authors discuss possible complications of this technique such as infection, suture distension and tissue expander extrusion. Recommendations are discussed in order to prevent these major complications. Having reviewed their personal experience the Authors feel they can confirm the reliability of this revolutionary technique in the field of plastic and reconstructive surgery. The use of tissue expanders permits the surgeon to obtain improved functional and aesthetic results which only a few years ago were not conceivable.
Assuntos
Cabeça/cirurgia , Pescoço/cirurgia , Dispositivos para Expansão de Tecidos , Feminino , Humanos , MasculinoRESUMO
Three patients affected by carcinoma cuniculatum involving the nail apparatus are reported. The toes were affected in 2 cases, the thumb in 1 case. In the first patient the tumour developed in the subungual area and resulted in loss of the toe-nail. In the second patient the tumour originated on the dorsum of the toe and subsequently involved the proximal nail fold. In the third patient the tumour developed in the nail bed resulting in loss of the lateral part of the nail plate. The pathology showed in all cases invaginating strands of well-differentiated keratinocytes, some of which had central crypts containing keratinous debris. Radical excision of the tumour required disarticulation of the digit in 2 cases, whereas Mohs micrographic surgery was performed in the third case.
Assuntos
Carcinoma de Células Escamosas/patologia , Doenças da Unha/patologia , Idoso , Idoso de 80 Anos ou mais , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polegar/patologia , Dedos do Pé/patologia , Verrugas/patologiaRESUMO
This article remarks on the possibility of recontouring the face by working on the facial skeleton with the sole purpose of softening the facial appearance. The author describes a one-step surgical procedure performed on a 38-year-old man who had serious social problems because of his aggressive and threatening facial appearance that contrasted with his gentle personality. The author coins the term Minotaur Syndrome to describe the discrepancy between the patient's true personality versus his negative facial appearance.