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1.
J Wound Care ; 30(3): 234-237, 2021 Mar 02.
Artigo em Inglês | MEDLINE | ID: mdl-33729841

RESUMO

Closure of a tracheoesophageal puncture site performed during voice prosthesis implantation may sometimes be required. Besides local techniques, more elaborate procedures, such as closure by means of free microvascular flaps, have been advocated. In this report, we describe a case of local treatment of a hard-to-heal fistula with local application of autologous platelet-rich fibrin matrix in a 77-year-old male patient. At one-week follow-up, the size of the fistula had decreased dramatically but some leakage remained when drinking. After one month, the patient was able to drink and eat normally without any leakage. There was no recurrence of the leakage at two years' follow-up. In summary, local application of platelet-rich fibrin seems to be a simple, safe and effective procedure for tracheoesophageal fistula closure.


Assuntos
Adesivo Tecidual de Fibrina/uso terapêutico , Laringe Artificial/efeitos adversos , Fibrina Rica em Plaquetas , Fístula Traqueoesofágica/terapia , Idoso , Terapia Combinada , Humanos , Injeções Intralesionais , Laringectomia , Masculino , Punções , Fístula Traqueoesofágica/etiologia , Transplante Autólogo , Resultado do Tratamento
4.
Cleft Palate Craniofac J ; 57(4): 529-531, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31960709

RESUMO

Many orthodontists working on patients with cleft lip and palate (CLP) have shown great enthusiasm for presurgical infant orthopedics (PSIO) to improve surgical outcomes with minimal intervention. Even though every clinician aims to use the best treatment modality for their patients, PSIO effects can be confounded by surgical type and timing of the primary repair, as is discussed in many studies. In such cases, one should be cautious when evaluating the particular outcomes for patients with CLP since it is difficult to differentiate the sole effect of an individual surgical or orthodontic intervention. As with any treatment methodology, nasoalveolar molding (NAM) has both benefits and limitations. Commonly cited concerns with NAM, and PSIO in general, include increased cost, increased burden of care, and a negative impact on maxillary growth. However, NAM cannot be deemed as having apparent long-term negative or positive effects on skeletal or soft tissue facial growth, based on previous studies. A review of the literature suggests that NAM does not alter skeletal facial growth when compared with the samples that did not receive PSIO. Nevertheless, the published studies on NAM show evidence of benefits to the patient, caregivers, the surgeon, and society. These benefits include documented reduction in severity of the cleft deformity prior to surgery and as a consequence improved surgical outcomes, reduced burden of care on the care givers, reduction in the need for revision surgery, and consequent reduced overall cost of care to the patient and society.


Assuntos
Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Procedimentos Ortopédicos , Procedimentos de Cirurgia Plástica , Humanos , Lactente , Maxila , Nariz/cirurgia
5.
Aesthetic Plast Surg ; 44(1): 168-176, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31741067

RESUMO

BACKGROUND: The ischemic environment of the receiving area compromises the outcome of autologous fat grafts. The aim of this study was to isolate and expand the stromal vascular fraction from patient lipoaspirates and investigate the gain in cell viability exerted by some protective agents against the blockage of mitochondrial respiration. METHODS: The aspirates were (1) washed, using the "Lull pgm system," (2) centrifuged and (3) decanted. The corresponding stromal vascular fractions were isolated, and after cell adherence selection, the stromal/stem cell subpopulations were exposed to Antimycin A for 1 h. Then, the protection induced by cell pretreatment with deferoxamine, diazoxide and IGF-1 was evaluated. RESULTS: The residual cell viability of the "Lull pgm system"-washed samples was greater than that of the centrifuged samples (p < 0.05), and this advantage was maintained during the following 12 days of culture. The administration of 400 µM deferoxamine before Antimycin A treatment increased the number of viable cells from 56.5 to 80.8% (p < 0.05). On the contrary, the pretreatment with 250 µM diazoxide or 0.1 µg/ml IGF-1 did not exert any significant pro-survival action. Echinomycin abolished the positive effect of deferoxamine, suggesting that its protection involved HIF-1α. CONCLUSIONS: Adipose-derived stromal-stem cells survive the inhibition of mitochondrial respiration better if the lipoaspirate is washed using the "Lull pgm system" rather than centrifuged. Moreover, a significant contribution to cell survival can be obtained by preconditioning stromal-stem cells with deferoxamine. In a clinical perspective, this drug could be safely administered before surgery to patients undergoing autologous fat transfer. NO LEVEL ASSIGNED: This journal requires that authors assign a level of evidence to each submission to which Evidence-Based Medicine rankings are applicable. This excludes Review Articles, Book Reviews, and manuscripts that concern Basic Science, Animal Studies, Cadaver Studies, and Experimental Studies. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266.


Assuntos
Tecido Adiposo , Desferroxamina , Animais , Desferroxamina/farmacologia , Humanos , Respiração , Células-Tronco , Células Estromais
6.
Ann Plast Surg ; 83(6): 629-635, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31688107

RESUMO

Esthetic masculinization of the chest wall is one of the first surgical steps in female-to-male transsexual (FTMTS) reassignment.This surgical procedure is not a simple mastectomy: it is required for removal of breast tissue with glandular resection and skin excess revision, to reduce and replace the nipple-areola complex in the right location, minimizing chest wall scars. The creation of an esthetically pleasing male chest allows the patient to live at ease in the male gender role.In this article, we present our series of 68 FTMTSs who underwent bilateral mastectomies for surgical sexual reassignment (a total of 136 mastectomies) according to our algorithm, in the period between January 2010 and December 2017. We selected 4 different operative procedures, classified as subcutaneous ("pull-through" and "concentric circular" techniques) and skin extended ("ultrathin vertical bipedicle" and free nipple graft).We achieved a total complication rate of 6.6%, less than that reported in the literature; additional procedures for esthetic improvements were performed in 14.7% of cases. The mean patient satisfaction was approximately 4.57% of a maximal value of 5 (excellent).To help surgeons in choosing the most appropriate FTMTS surgical technique and to reduce unfavorable results, we propose the use of our treatment algorithm in preoperative evaluation of the chest wall according to the breast volume, degree of glandular ptosis, and skin elasticity.


Assuntos
Masculinidade , Mastectomia Subcutânea/métodos , Satisfação do Paciente/estatística & dados numéricos , Procedimentos de Readequação Sexual/métodos , Pessoas Transgênero , Adulto , Algoritmos , Estudos de Coortes , Estética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Procedimentos de Readequação Sexual/psicologia , Inquéritos e Questionários , Parede Torácica/cirurgia , Resultado do Tratamento
8.
J Plast Reconstr Aesthet Surg ; 72(11): 1847-1855, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31326321

RESUMO

BACKGROUND: The acquisition of signed informed consent is not always enough to ensure adequate medical protection. Particularly, in plastic surgery, improving the doctor-patient relationship by understanding the patient's emotions and expectations becomes a determining factor when choosing the best therapeutic strategy for the subject in question, which may also include nonsurgical eligibility. METHODS: Ninety patients with various plastic surgery disabilities were recruited and randomly divided into three groups: Patients in the first group underwent the ``traditional'' clinical interview, those in the second underwent the clinical approach called Shared Decision Making (SDM), and those in the third group received both the SDM and a questionnaire evaluating patient expectations (Expectation Questionnaire-Pgm). At the end of each interview, a specialist physician in Plastic, Reconstructive and Aesthetic Surgery was asked to fill in a questionnaire regarding his/her satisfaction with the method used. Likewise, the patient filled in a questionnaire on his/her satisfaction with the interview. RESULTS: For the doctors, the third method was superior in investigating patient expectations, emotions, and personal preferences. For the patients, the third method scored significantly higher than the first one for overall satisfaction and ability to evaluate personal preferences and needs and higher than the first and second methods in assessing expectations. CONCLUSIONS: For doctors, the SDM coupled with the Expectation Questionnaire-Pgm proved to be the most useful tool to understand patient expectations and emotions and thus improve the medical-patient relationship through shared decision-making. The third method therefore aims for better patient coverage and improved informed consent, thereby reducing the likelihood of litigation and better assessing nonfitness for operation.


Assuntos
Consentimento Livre e Esclarecido , Satisfação do Paciente , Relações Médico-Paciente , Procedimentos de Cirurgia Plástica , Adulto , Idoso , Tomada de Decisão Compartilhada , Emoções , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
12.
Int J Pediatr Otorhinolaryngol ; 108: 190-195, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29605353

RESUMO

OBJECTIVES: A relatively neglected aspect of cleft lip nasal deformity is the effect of septal deviation and inferior turbinate hypertrophy (ITH) on the functional airway. In particular, ITH in the noncleft side can be especially problematic, because it reduces the healthy nasal area, creating bilateral nasal obstruction that might affect the growth of the maxillofacial skeleton. Although these anatomic and functional changes are documented, few recommendations have been developed regarding the proper approach to ITH. The aim of the present study was to asses the ITH severity and determine the degree of nasal airway patency in patients who have undergone primary correction of the nasal septum during lip repair compared to patients operated on without primary septal correction. METHODS: The study population included two groups. One group consisted of twenty unilateral cleft lip palate UCLP patients who have previously undergone primary rhinoseptoplasty as part of their treatment plan. The control group consisted of twenty UCLP patients operated on without rhinoseptal correction. The Nasal Obstructive Symptom Evaluation (NOSE) scale and nasal endoscopy were used to assess nasal obstruction. RESULTS: The overall untreated group reported severe symptoms across all NOSE scale dimensions more frequently than children who have undergone primary rhinoseptoplasty. The difference was statistically significant for each dimensions (p < 0.05). The mean NOSE score for group A and group B was 21.4 ±â€¯9.4 and 70.8 ±â€¯17.2 respectively (p < 0.0001). In group A turbinate size decreased significantly (p < 0.05) compared to pre-operative data. Comparing the two groups a statistically significant difference in turbinate size was observed (p < 0.0001). CONCLUSION: The results of the present study confirm that there is a significant degree of ITH and nasal airway dysfunction in patients with UCLP. Early septal repositioning during primary cleft lip repair results in a statistically significant reduction in IT size and improvement of nasal patency.


Assuntos
Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Septo Nasal/cirurgia , Rinoplastia/métodos , Conchas Nasais/patologia , Fenda Labial/complicações , Fissura Palatina/complicações , Endoscopia , Feminino , Humanos , Hipertrofia/cirurgia , Lactente , Masculino , Obstrução Nasal/etiologia , Septo Nasal/anormalidades , Rinoplastia/efeitos adversos , Conchas Nasais/cirurgia
13.
Wound Repair Regen ; 25(4): 722-729, 2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-28905449

RESUMO

Autologous fat grafting and methods of purification of harvested tissue have become one of the most current themes in regenerative medicine. The aim of this study was to evaluate the in vitro regenerative potential of abdomen lipoaspirates subjected to a combined washing-decantation purifying procedure, the Lull pgm System (Lull). Blood cells and stromal-vascular fraction (SVF) cells contained in the aspirates were investigated and compared with those obtained through more conventional fat-processing methods, that is, the decantation and Coleman's centrifugation techniques. The lowest number of erythrocytes, which are proinflammatory cells, was observed in the Lull samples, corresponding to about 50% of those isolated by decantation and centrifugation. The highest amount of SVF cells were isolated from the Lull samples whose number of colony forming units, representative of the amount of adipose-derived stem cells (ADSCs), was about fourfold and sixfold higher than in the decantation and centrifugation samples, respectively. Adipocyte and osteoblast commitment of SVF cells obtained from all the three procedures also confirmed that the subpopulation of ADSCs was actively represented in the processed aspirates. Moreover, the growth rate of the SVF cells was more accentuated in the samples obtained from decantation and Lull than centrifugation. In conclusion, Lull seems to be the best processing technique for adipose tissue graft with respect to decantation and centrifugation, because it clears more efficiently the fat from proinflammatory blood cells and provides the greatest number of proliferating SFV cells and ADSCs.


Assuntos
Tecido Adiposo/citologia , Regeneração/fisiologia , Medicina Regenerativa , Células-Tronco/citologia , Coleta de Tecidos e Órgãos/métodos , Tecido Adiposo/transplante , Adulto , Autoenxertos , Células Cultivadas , Feminino , Citometria de Fluxo , Voluntários Saudáveis , Humanos , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Adulto Jovem
14.
J Biomed Mater Res A ; 103(9): 3012-25, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25727843

RESUMO

One of the main cause of ineffective cell therapy in repairing the damaged heart is the poor yield of grafted cells. To overcome this drawback, rats with 4-week-old myocardial infarction (MI) were injected in the border zone with human adipose-derived stem cells (ADSCs) conveyed by poly(lactic-co-glycolic acid) microcarriers (PAMs) releasing hepatocyte growth factor (HGF) and insulin-like growth factor-1 (IGF-1) (GFsPAMs). According to treatments, animals were subdivided into different groups: MI_ADSC, MI_ADSC/PAM, MI_GFsPAM, MI_ADSC/GFsPAM, and untreated MI_V. Two weeks after injection, a 31% increase in ADSC engraftment was observed in MI_ADSC/PAM compared with MI_ADSC (p < 0.05). A further ADSC retention was obtained in MI_ADSC/GFsPAM with respect to MI_ADSC (106%, p < 0.05) and MI_ADSC/PAM (57%, p < 0.05). A 130% higher density of blood vessels of medium size was present in MI_ADSC/GFsPAM compared with MI_ADSC (p < 0.01). MI_ADSC/GFsPAM also improved, albeit slightly, left ventricular remodeling and hemodynamics with respect to the other groups. Notably, ADSCs and/or PAMs, with or without HGF/IGF-1, trended to induce arrhythmias in electrically driven, Langendorff-perfused, hearts of all groups. Thus, PAMs releasing HGF/IGF-1 markedly increase ADSC engraftment 2 weeks after injection and stimulate healing in chronically infarcted myocardium, but attention should be paid to potentially negative electrophysiological consequences.


Assuntos
Fator de Crescimento de Hepatócito/administração & dosagem , Fator de Crescimento Insulin-Like I/administração & dosagem , Infarto do Miocárdio/tratamento farmacológico , Infarto do Miocárdio/terapia , Transplante de Células-Tronco/métodos , Tecido Adiposo/citologia , Animais , Arritmias Cardíacas/etiologia , Materiais Biomiméticos/química , Modelos Animais de Doenças , Portadores de Fármacos/administração & dosagem , Humanos , Ácido Láctico , Masculino , Teste de Materiais , Microesferas , Infarto do Miocárdio/patologia , Neovascularização Fisiológica/efeitos dos fármacos , Ácido Poliglicólico , Copolímero de Ácido Poliláctico e Ácido Poliglicólico , Ratos , Ratos Wistar , Transplante de Células-Tronco/efeitos adversos , Remodelação Ventricular , Cicatrização/efeitos dos fármacos
15.
Burns ; 41(3): 484-92, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25440856

RESUMO

Acid burn injuries in Bangladesh primarily occur as a result of intentional attacks although there are incidences of accidental acid burns in industry, on the street, and at home. A total of 126 patients with acid burns, 95 from attacks and 31 from accidents, were studied from July 2004 to December 2012. A diagnosis of acid burn was made from history, physical examination and in some cases from chemical analysis of the patients' clothing. Alkali burns were excluded from the study. In the burn unit of Dhaka Medical College Hospital, we applied a slightly different protocol for management of acid burns, beginning with plain water irrigation of the wound, which effectively reduced burn depth and the requirement of surgical treatment. Application of hydrocolloid dressing for 48-72 h helped with the assessment of depth and the course of treatment. Early excision and grafting gives good results but resultant acid trickling creates a marble cake-like appearance of the wound separated by the vital skin. Excision with a scalpel and direct stitching of the wounds are often a good option. Observation of patients on follow-up revealed that wounds showed a tendency for hypertrophy. Application of pressure garments and other scar treatments were given in all cases unless the burn was highly superficial.


Assuntos
Acidentes/estatística & dados numéricos , Ácidos , Curativos Hidrocoloides , Queimaduras Químicas/terapia , Bandagens Compressivas , Transplante de Pele , Violência/estatística & dados numéricos , Adolescente , Adulto , Distribuição por Idade , Bangladesh/epidemiologia , Queimaduras Químicas/epidemiologia , Criança , Estudos de Coortes , Vítimas de Crime/estatística & dados numéricos , Gerenciamento Clínico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Resultado do Tratamento , Adulto Jovem
16.
Cell Biochem Biophys ; 67(2): 255-62, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23625166

RESUMO

Adipose-derived stem cells (ADSCs) are stromal mesenchymal stem cells isolated from lipoaspirates, and they display a broad potential to differentiate toward different lineages. The role of epigenetics in regulating the expression of their lineage-specific genes is under evaluation, however till date virtually nothing is known about the relative significance of cardiac-specific transcription factor genes in human ADSCs. The aim of this study was to investigate DNA promoter methylation and relevant histone modifications involving MEF-2C, GATA-4, and Nkx2.5 in native human ADSCs. CpG sites at the transcription start in their promoters were found unmethylated using methylation-specific PCR. Chromatin immunoprecipitation assay showed low levels of total acetylated H3 histone (acH3) and high levels of trimethylated lysine 27 in H3 histone (H3K27me3) which were associated with both GATA-4 and Nkx2.5 promoters, indicating their transcriptional repressive chromatin arrangement. On the other hand, the opposite was apparent for MEF-2C promoter. Accordingly, MEF-2C-but not GATA-4 and Nkx2.5-transcripts were evidenced in native human ADSCs. These results suggest that the chromatin arrangement of these early cardiac regulatory genes could be explored as a level of intervention to address the differentiation of human ADSCs toward the cardiac lineage.


Assuntos
Tecido Adiposo/citologia , Epigênese Genética , Miocárdio/metabolismo , Células-Tronco/citologia , Células-Tronco/metabolismo , Fatores de Transcrição/genética , Adolescente , Adulto , Cromatina/genética , Metilação de DNA , Feminino , Perfilação da Expressão Gênica , Histonas/química , Histonas/genética , Histonas/metabolismo , Humanos , Lisina/metabolismo , Masculino , Pessoa de Meia-Idade , Fenótipo , Regiões Promotoras Genéticas/genética , Adulto Jovem
17.
Plast Reconstr Surg ; 130(3): 434e-441e, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22929267

RESUMO

BACKGROUND: The treatment of patients affected by unilateral cleft lip-cleft palate is based on a multistage procedure of surgical and nonsurgical treatments in accordance with the different types of deformity. Over time, the surgical approach for the correction of a nasal deformity in a cleft lip-cleft palate has changed notably and the protocol of treatment has evolved continuously. Not touching the cleft lip nose in the primary repair was dogmatic in the past, even though this meant severe functional, aesthetic, and psychological problems for the child. McComb reported a new technique for placement of the alar cartilage during lip repair. The positive results of this new approach proved that the early correction of the alar cartilage anomaly is essential for harmonious facial growth with stable results and without discomfort for the child. METHODS: The authors applied the same principles used for the treatment of the alar cartilage for correction of the septum deformity, introducing a primary rhinoseptoplasty during the cheiloplasty. The authors compared two groups: group A, which underwent septoplasty during cleft lip repair; and group B, which did not. RESULTS: After the anthropometric evaluation of the two groups, the authors observed better symmetry regarding nasal shape, correct growth of the nose, and a strong reduction of the nasal deformity in the patients who underwent primary JJ septum deformity correction. CONCLUSION: The authors can assume that, similar to the alar cartilage, the septum can be repositioned during the primary surgery, without causing growth anomaly, improving the morphologic/functional results.


Assuntos
Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Cartilagens Nasais/cirurgia , Septo Nasal/anormalidades , Septo Nasal/cirurgia , Procedimentos de Cirurgia Plástica , Adulto , Criança , Endoscopia , Humanos , Masculino , Rinoplastia/métodos , Prevenção Secundária , Resultado do Tratamento
18.
Eur J Oral Sci ; 119(3): 193-7, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21564312

RESUMO

Orofacial clefts have a multifactorial aetiology encompassing both genetic and environmental components. While there is wide agreement on the importance of both genetic and nutritional factors, genetic influence in particular has not been well defined. As genetic variants in folate and homocysteine metabolism have been reported to influence the risk of orofacial clefts, an Italian cleft lip with or without cleft palate (CL/P) data set was enrolled for an analysis based on family association to test betaine-homocysteine methyltransferase (BHMT and BHMT2) and cystathionine beta-synthase (CBS) variants. No significant level of association was found between BHMT and BHMT2 variants, while evidence of an allelic association with CL/P was found for the single nucleotide polymorphism rs4920037, mapping at the CBS gene. A log-linear approach indicated that the best genetic model takes into account both mother and child genotypes. This suggests that human orofacial development is influenced by CBS genotypes that possibly operate through intergenerational fetal-maternal interaction.


Assuntos
Fenda Labial/enzimologia , Fissura Palatina/enzimologia , Cistationina beta-Sintase/metabolismo , Impressão Genômica , Adulto , Betaína-Homocisteína S-Metiltransferase/genética , Betaína-Homocisteína S-Metiltransferase/metabolismo , Distribuição de Qui-Quadrado , Criança , Fenda Labial/complicações , Fenda Labial/genética , Fissura Palatina/complicações , Fissura Palatina/genética , Cistationina beta-Sintase/genética , Humanos , Mães , Polimorfismo de Nucleotídeo Único
19.
J Craniofac Surg ; 22(1): 360-3, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21239937

RESUMO

Only 28 cases of congenital cystic eye have been reported in the literature. The main issue in such cases is differential diagnosis between this malformation and different cystic malformations and masses of the orbital cavity and eyeball, the most common of which is microphthalmia with cyst. Both malformations arise from incomplete closure of the fetal optic vesicle in different stages of embryonic development. We present a case of congenital cystic eye, associated with coloboma and corneal dermoid of the fellow eye and with left brachiocephaly, discussing differential diagnosis with microphthalmia with cyst and illustrating the treatment we planned and performed. The patient first underwent a surgical excision of the left corneal dermoid, then a resection of the right orbital cyst. The last step was to perform a craniotomy and cranial vault remodeling. All the operations were planned and performed using a team approach. The team comprised an ophthalmologist, a plastic surgeon, and a neurosurgeon, and the result was a successful outcome.


Assuntos
Cistos/congênito , Cistos/cirurgia , Oftalmopatias/congênito , Oftalmopatias/cirurgia , Doenças da Córnea/congênito , Doenças da Córnea/diagnóstico por imagem , Doenças da Córnea/cirurgia , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/cirurgia , Craniotomia , Cistos/diagnóstico por imagem , Cisto Dermoide/congênito , Cisto Dermoide/diagnóstico por imagem , Cisto Dermoide/cirurgia , Diagnóstico Diferencial , Oftalmopatias/diagnóstico por imagem , Feminino , Humanos , Imageamento Tridimensional , Recém-Nascido , Equipe de Assistência ao Paciente , Gravidez , Tomografia Computadorizada por Raios X , Ultrassonografia Pré-Natal
20.
Eur J Oral Sci ; 119(1): 102-5, 2011 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21244519

RESUMO

Non-syndromic cleft lip with or without cleft palate (NSCLP) is a malformation with variable phenotypes, resulting from a mixture of genetic and environmental factors. Some studies have supported a role for the 16q24 region and its candidate gene, CRISPLD2, in clefting. A replication study is necessary to confirm these findings. The aim of the present study was to test, by genetic linkage and association analyses, whether the candidate gene, CRISPLD2, represents a risk factor for NSCLP. The analysis of 39 multigenerational families provided formal exclusion of a linkage between NSCLP and the CRISPLD2 locus under different genetic models and non-parametric analyses. The family-based study of 239 unrelated probands and their parents revealed no association between any particular allele or haplotype and NSCLP. Therefore, the present investigation did not support the hypothesis of the involvement of CRISPLD2 in NSCLP malformation, at least with regard to the Italian population.


Assuntos
Moléculas de Adesão Celular/genética , Cromossomos Humanos Par 16 , Fenda Labial/genética , Fissura Palatina/genética , Fatores Reguladores de Interferon/genética , Adulto , Criança , Feminino , Frequência do Gene , Ligação Genética , Predisposição Genética para Doença , Humanos , Masculino , Repetições de Microssatélites , Polimorfismo de Nucleotídeo Único , Estatísticas não Paramétricas
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