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1.
Ann Chir Plast Esthet ; 68(2): 131-138, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35927106

RESUMEN

Secondary rhinoplasty is a challenging procedure, requiring a precise preoperative diagnosis of nasal deformities before correcting them. As there is currently no accepted outcome measurement tool available to assess unilateral cleft lip and palate (UCLP) nose sequelae before secondary rhinoplasty. The goal of this retrospective study is to identify the nose deformities and rate them in an evaluation scale that allows collecting and analyzing cleft nose data. Our retrospective cohort is composed of 29 patients with UCLP, who underwent secondary rhinoplasty between 2010 and 2021 in a cleft center, with a mean age of 23years old. Evaluation of deformities is made from preoperative two-dimensional photography. The assessment photographic tool is a custom-designed scale of 16 items. A binary scoring system is used by two experts to assess nasolabial deformities. The most encountered sequelaes are the alar foot displacement (93%), the enlarged tip (90%) and the nostril horizontalization (86%). The inter-examiner ICC for total rating was calculated at 0.911 and indicated a strong level of reliability that was highly significant (P<0.05). The simplicity, reliability and reproducibility of the proposed assessment system could be interesting for clinicians, in order to diagnose the nasal deformities before surgery, but also to assess postoperative success of a secondary rhinoplasty and thus to compare several surgical techniques.


Asunto(s)
Labio Leporino , Fisura del Paladar , Enfermedades Nasales , Rinoplastia , Humanos , Adulto , Adulto Joven , Labio Leporino/cirugía , Fisura del Paladar/cirugía , Estudios Retrospectivos , Reproducibilidad de los Resultados , Resultado del Tratamiento , Nariz/cirugía , Nariz/anomalías , Rinoplastia/métodos , Enfermedades Nasales/cirugía
2.
Ann Chir Plast Esthet ; 68(2): 139-144, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35934555

RESUMEN

Secondary rhinoplasty on patients with cleft is a challenging procedure, and the most important criterion for evaluating the surgery success is patient satisfaction even if it's subjective. OBJECTIVES: To evaluate patient satisfaction following secondary cleft rhinoplasty with a specific assessment for patients with Unilateral Cleft Lip and Palate (UCLP). PATIENTS AND METHODS: Our retrospective cross-sectional study is composed of 29 patients with UCLP with a mean age of 23years old, who underwent secondary rhinoplasty between 2010 and 2021 in our department. The survey was conducted postoperatively using a cleft-nose specific custom designed questionnaire based on the Byrne questionnaire, over the phone. This satisfaction questionnaire comprises six questions about physical appearance and one question about functional aspect. Patients were asked to answer "yes" or "no" or to rate from 0 (no improvement) to 10 (perfect result) depending on the question. RESULTS: Twenty out of 29 people responded to the questionnaire, representing an answer rate of 69%. The average score given by the patient for nasolabial scar improvement was 7.2/10, and the one concerning global improvement was 8.2/10. All patients would be ready to undergo the same procedure again, knowing the final result. A functional improvement concerning breathing or snoring was reported in 45% of cases. All dorsum or tip issues were improved after surgery (P=0,07). CONCLUSIONS: Our results demonstrate high patient satisfaction after cleft rhinoplasty, which encourages the continuation of this surgery. We would recommend the use of this simple questionnaire to allow a more accurate evaluation of patient outcomes.


Asunto(s)
Labio Leporino , Fisura del Paladar , Rinoplastia , Humanos , Adulto Joven , Adulto , Rinoplastia/métodos , Labio Leporino/cirugía , Nariz/cirugía , Fisura del Paladar/cirugía , Estudios Retrospectivos , Estudios Transversales , Satisfacción del Paciente , Resultado del Tratamiento , Estética , Encuestas y Cuestionarios , Satisfacción Personal
3.
Arch Orthop Trauma Surg ; 142(11): 3367-3377, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34999993

RESUMEN

INTRODUCTION: Traumatic shoulder instability most frequently occurs in young people often during sports events. Currently, the arthroscopic Bankart repair is the therapy of choice in the absence of extensive glenoid bone loss and has proved to be a safe and effective procedure. Nevertheless, we see recurrence of instability-especially if new trauma happens-and further data are needed to guide the right decision-making for these often young patients. The purpose of this study was to determine the long-term outcome 10 years after arthroscopic Bankart operation in terms of satisfaction of the patient, functional result, complications, recurrent instability, and development of osteoarthritis, and to look after possible risk factors for recurrence of instability and statistical proof of these. MATERIALS AND METHODS: Thirty-nine out of 49 patients underwent physical examination of both shoulders. We could perform a postoperative shoulder a-p X-ray in 28 patients. According to Samilson, [24] the extent of osteoarthritis was measured. The Constant score and the postoperative ROWE score were determined for both shoulders as well as the WOSI Score. In 25 cases, we calculated the ISIS Score. RESULTS: We could reach out to 89.6% of patients and 79.6% could be physically examined. The vast majority of 95.5% are either very satisfied or satisfied with the result at the time we ended the follow-up. The mean Constant score of 95.5 reflects this result. In contrast to this, we found at the same time in 15.3% ongoing clinical signs of instability of the concerning shoulder, even though 9.1% had to be re-operated for recurrent instability in between the follow-up timeline and we found in the X-rays (57.1% of all patients) in 35.7% at least moderate and in 10.7% severe signs of osteoarthritis. The Constant score but not the ROWE score differed significantly in patients with no or mild compared to those with moderate-to-severe osteoarthritis. CONCLUSIONS: The arthroscopic Bankart stabilization procedure showed after 10 years to be a very safe operation and to be able to produce a satisfying and functional very good long-term result-reflected by the Constant score. We assume that the extent of osteoarthritis seems to be the determining factor of the very good functional result, even though ongoing instability was present in 15.3% of the patients.


Asunto(s)
Inestabilidad de la Articulación , Osteoartritis , Luxación del Hombro , Articulación del Hombro , Adolescente , Artroscopía/métodos , Estudios de Seguimiento , Humanos , Inestabilidad de la Articulación/etiología , Osteoartritis/etiología , Recurrencia , Estudios Retrospectivos , Luxación del Hombro/cirugía , Articulación del Hombro/cirugía , Resultado del Tratamiento
4.
Ann Chir Plast Esthet ; 65(1): 61-69, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-30795932

RESUMEN

INTRODUCTION: Full-thickness eyelid defects exceeding 25% of the eyelid width should benefit from a skillful, immediate and simultaneous reconstruction of two layers; anterior and posterior lamella. In this article, we recall, through an original series of cases, the possibility of using a palatal fibromucosal graft during the reconstruction of the posterior lamella as well as the modalities of its optimal use. PATIENTS AND METHODS: Retrospective study, including 8 patients with an extensive full-thickness eyelid defect affecting more than half of the upper and/or lower eyelid, after tumor excisions. 4 cases were involved in lower eyelid reconstruction, 2 in upper one and 2 in both. Posterior lamella was reconstructed using a palatal mucosal graft. Anterior lamella was reconstructed using different flaps: Esser-Mustardé flap, medially and laterally based orbicularis oculi myocutaneous flap, Tripier and orbitonasolabial flaps. Mean follow-up was 12.75 months. RESULTS: The survival rate of grafts and flaps was excellent with only one flap border necrosis. The donor site healed in an average time of 3 weeks. Functional recovery, complete eye closure and opening, was obtained in all cases. Lining, texture and color was considered satisfactory in all cases. CONCLUSION: The palatal mucosal graft provides a good and lasting structural support to the eyelid, which is essential for the inferior eyelid, especially when combined with a flap. Slight overcorrection is recommended.


Asunto(s)
Neoplasias de los Párpados/cirugía , Párpados/cirugía , Mucosa Bucal/trasplante , Procedimientos de Cirugía Plástica/métodos , Colgajos Quirúrgicos , Supervivencia de Injerto/fisiología , Músculos Palatinos/trasplante , Estudios Retrospectivos
6.
Phys Chem Chem Phys ; 20(19): 13145-13152, 2018 May 16.
Artículo en Inglés | MEDLINE | ID: mdl-29498384

RESUMEN

Molecularly imprinted polymers are advanced recognition materials selectively rebinding a target molecule present during the synthesis of the polymer matrix. It is commonly understood that the templating process is based on embedding the complex formed between a template and functional monomers into a co-polymer matrix. This happens by a polymerization of the complex with a cross-linker while maintaining their spatial arrangement forming a molecular imprint. Template removal then leads to synthetic recognition sites ready to selectively rebind their targets, which are complementary in functionality, size and shape to the target. In this study, an innovative theoretical concept using fully atomistic molecular dynamics simulations for modeling molecular templating processes is introduced yielding virtually imprinted polymers (VIPs). VIPs created for the template 17-ß-estradiol and applied in modeled chromatography experiments demonstrated selectivity for their template. This evidenced the creation of virtual imprints as a result of a templated synthesis protocol, which represents a theoretical confirmation of the governing imprinting theory.

7.
Phys Chem Chem Phys ; 20(19): 13153-13158, 2018 May 16.
Artículo en Inglés | MEDLINE | ID: mdl-29517773

RESUMEN

Synthetic molecular recognition materials, such as molecularly imprinted polymers (MIPs), are of increasing importance in biotechnology and analytical chemistry, as they are able to selectively bind their respective template. However, due to their specificity, each MIP has to be individually designed for the desired target leading to a molecularly tailored synthesis strategy. While trial-and-error remains the common approach for selecting suitable functional monomers (FMs), the study herein introduces a radically new approach towards rationally designing MIPs by rapidly screening suitable functional monomers based on local density of states (LDOS) calculations in a technique known as Electronic Indices Methodology (EIM). An EIM-based method of classification of FMs according to their suitability for imprinting was developed. Starting from a training set of nine different functional monomers, the prediction of suitability of four functional monomers was possible. These predictions were subsequently experimentally confirmed.

8.
Ann Chir Plast Esthet ; 58(1): 18-27, 2013 Feb.
Artículo en Francés | MEDLINE | ID: mdl-22739403

RESUMEN

INTRODUCTION: The transverse musculocutaneous gracilis free flap allows a wider range of indications in autologous breast reconstruction. They extend far beyond traditional dorsal, abdominal and gluteal flaps. The authors present their experience in using this innovative procedure. PATIENTS AND METHODS: The cutaneous and adipose part of the flap consists in a horizontal ellipse centered on the gracilis muscle in the upper thigh. The distal part of the muscle is released without neither visual control nor additional incision. The flap vascular pedicle is microanastomosed to the recipient internal thoracic vessels in the third intercostal space. Eleven patients, with a mean age of 44 years (29-62) and a BMI of 24 (19-32) underwent this procedure. Surgery was performed on either one side (n=6) or two (n=5), in indications of immediate (n=5) or delayed reconstruction (n=6). The main operative parameters (time, vessel diameter, pedicle length, flap volume) as well as postoperative follow-up were studied. RESULTS: Mean time of surgery was 4h33 (3-6 hours). Pedicle measured 6.2 cm (5-7.5) and diameter of the artery was 19 mm (15-30). Average weight of the flap was 344g (270-498). Two cases of partial necrosis occurred in the posterior cutaneous part of the flap (1cm(3) and 3 cm(3)). They were treated using controlled wound healing. Sequelae in the donor site proved minimal as the scar was placed in the crural crease and the gluteal fold. No major functional defect was noted after mean follow-up of six months. CONCLUSIONS: The transverse musculocutaneous gracilis free flap allows natural and durable reconstruction while reducing cosmetic and functional sequelae in the donor site. It proves to be particularly useful in bilateral immediate reconstructions following skin-sparing mastectomy. This surgical option offers new opportunities to long-limbed women without abdominal excess wishing autologous breast reconstruction.


Asunto(s)
Neoplasias de la Mama/cirugía , Colgajos Tisulares Libres/cirugía , Mamoplastia/métodos , Colgajo Miocutáneo/cirugía , Adulto , Anastomosis Quirúrgica/métodos , Arterias/cirugía , Neoplasias de la Mama/radioterapia , Terapia Combinada , Femenino , Estudios de Seguimiento , Colgajos Tisulares Libres/irrigación sanguínea , Humanos , Persona de Mediana Edad , Colgajo Miocutáneo/irrigación sanguínea , Radioterapia Adyuvante , Recolección de Tejidos y Órganos/métodos , Cicatrización de Heridas/fisiología
9.
Ann Chir Plast Esthet ; 57(4): 323-7, 2012 Aug.
Artículo en Francés | MEDLINE | ID: mdl-22742995

RESUMEN

UNLABELLED: The quality of microsurgical sutures is a key to success in free flaps. Automatic devices are meant to improve safety and simplify microvascular anastomoses. We present the assessment of our clinical experience using automatic suture based on double ring eversion system. MATERIAL AND METHODS: This system has been tested during an eighteen months period, in 72 consecutive venous end to end anastomoses. This technical innovation was used in 58 free flaps on a total of 52 patients. Indication for free flap was breast reconstruction (n=40), facial reconstruction (n=14), abdominal and limb reconstruction (n=4). Assessment was based on efficiency, anastomosis time, and thrombosis ratio in venous sutures. RESULTS: The mechanical system made microsurgical procedure easier. It notably decreased coupling time compared to manual sutures. At the beginning, coupling time averaged eight minutes. It decreased to five minutes for the last ten cases. In our series, we noticed two venous thromboses (2.7%). In every case, emergency revision surgery allowed saving the flap. Thrombosis did not seem specifically due to the mechanical system. CONCLUSION: Our positive experience together with good outcome published throughout literature lead us to routinely use double ring-based automatic suture. We chose this system in first line for every venous end to end anastomoses regardless of indication.


Asunto(s)
Microcirugia/instrumentación , Técnicas de Sutura/instrumentación , Procedimientos Quirúrgicos Vasculares/instrumentación , Venas/cirugía , Anastomosis Quirúrgica/instrumentación , Diseño de Equipo , Humanos
10.
Rev Stomatol Chir Maxillofac ; 113(2): 96-9, 2012 Apr.
Artículo en Francés | MEDLINE | ID: mdl-22325710

RESUMEN

INTRODUCTION: The Risdon modified approach, for mandibular surgery, is well adapted to treatment of low subcondylar fractures. According to our experience, this approach with a low rate of complications should also be considered for non-traumatic ramus surgery. MATERIAL AND METHODS: Twenty Risdon modified approaches were used in 11 patients for non-traumatic indications (seven bilateral osteotomies, four unilateral osteotomies, one biopsy, one bone graft). One patient was operated twice with the same approach. RESULTS: In all cases, the planned surgery could be performed using this approach. The only complication was a case of temporary paresis of the facial nerve's mandibular branch. The scar was always considered as quite acceptable. DISCUSSION: As for traumatology, the Risdon modified approach is an improvement for ramus non-traumatic surgery. It has a very low rate of complications, especially for the facial nerve. The intraoral approach avoids scarring, but the resulting exposure is insufficient and requires using a transcutaneous device or endoscopy. In orthognathic surgery, the wide exposure of the lateral aspect of the ramus, the corpus, and the basilar edge, facilitates important mandibular advancement.


Asunto(s)
Mandíbula/cirugía , Cirugía Ortognática/métodos , Osteotomía/métodos , Adulto , Estudios de Factibilidad , Femenino , Estudios de Seguimiento , Humanos , Masculino , Fracturas Mandibulares/patología , Fracturas Mandibulares/cirugía , Persona de Mediana Edad , Osteotomía/efectos adversos , Osteotomía/rehabilitación , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Estudios Retrospectivos , Adulto Joven
11.
Ann Chir Plast Esthet ; 55(6): 547-52, 2010 Dec.
Artículo en Francés | MEDLINE | ID: mdl-21036446

RESUMEN

INTRODUCTION: Patient satisfaction is a good indicator to evaluate the success of breast reconstruction. The aim of this study was to compare the long-term satisfaction in patients who underwent four breast reconstruction techniques. PATIENT AND METHODS: Self-evaluation was achieved by patients in 147 breast reconstructions using a four-point score: very disappointed, disappointed, satisfied and very satisfied. The mean follow-up was 5.3 year (1 to 21.5 year). The surgical procedures used were: transverse rectus abdominis myocutaneous flap (TRAM) 15%, autologous latissimus dorsi flap (ALD) 14%, latissimus dorsi flap with implant (LDI) 32% and implant alone 39%. Patients' satisfaction was compared regarding the type of surgical procedure, the postoperative follow-up time; the immediate or delayed breast reconstruction and the radiation history. RESULTS: Thirty-five percent of the patients were very satisfied with their operation, 54% were satisfied, 7% were disappointed and 4% very disappointed. After a 5-year follow-up, autologous flaps showed better results (P<0.001). Patients were more satisfied with TRAM flaps than with surgical techniques using latissimus dorsi flaps (ALD and LDI). Patients treated with implants alone were statistically less satisfied. Only in the implant series, patient satisfaction decreased significantly with time (P<0.001) and preoperative radiation (P=0.005). CONCLUSIONS: Flap-based breast reconstructions show consistent long-term satisfaction although the surgery is initially more demanding. Our study matches the latest trends in the use of free perforator flaps for breast reconstruction. Indeed, these procedures combine good satisfaction and minor sequelae at the donor site.


Asunto(s)
Mamoplastia/métodos , Satisfacción del Paciente , Femenino , Humanos , Persona de Mediana Edad , Estudios Retrospectivos , Factores de Tiempo
12.
Rev Stomatol Chir Maxillofac ; 110(5): 256-62, 2009 Nov.
Artículo en Francés | MEDLINE | ID: mdl-19464037

RESUMEN

INTRODUCTION: Various clinical situations may require an important increase of the size of the nose. The aim of our work was to analyze long-term results of calvarial bone grafts used in rhinoplasties. MATERIAL AND METHOD: We retrospectively studied the files of 20 patients having undergone a calvarial bone graft. Photogrammetry was used to determine morphological modifications and the stability of results. RESULTS: The average follow-up was 8 years. The parietal donor site morbidity was low. All nose sizes were dramatically augmented and the stability of results ranged between 74.5 and 95%. DISCUSSION: The calvarial bone graft can be used for important nose augmentation with a good stability. There are few alternative techniques. This method is only limited by available skin and endonasal lining. Calvarial bone graft in rhinoplasty is not frequent but it is our first choice for the correction of important hypoplasia or saddling of the nose.


Asunto(s)
Trasplante Óseo/métodos , Rinoplastia/métodos , Adulto , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Mucosa Nasal/trasplante , Obstrucción Nasal/cirugía , Tabique Nasal/cirugía , Hueso Parietal/cirugía , Estudios Retrospectivos , Trasplante de Piel , Colgajos Quirúrgicos , Adulto Joven
13.
Rev Stomatol Chir Maxillofac ; 110(2): 77-80, 2009 Apr.
Artículo en Francés | MEDLINE | ID: mdl-19162287

RESUMEN

INTRODUCTION: Massage of the lateral pterygoid muscle according to Cyriax's principles is an unrecognized procedure. This procedure was tried on patients presenting with temporomandibular joint dysfunction syndrome. MATERIAL AND METHODS: Fifteen patients were treated. Pain, joint clicking, measurement of mouth opening, lateral excursion and propulsion were recorded. Assessment was made before and after the massage in the same consultation. RESULTS: Joint clicking was solved in 80% and pain in 50% of the cases. Mouth opening increased by 12.8%, propulsion by 11.6% and lateral excursion by 41.3%. DISCUSSION: Massage of the lateral pterygoid muscle according to Cyriax's principles is a simple and efficient method that can be recommended for patients presenting with temporomandibular joint dysfunction syndrome. We performed a brief anatomical and radiological MRI study supporting the feasibility of lateral pterygoid muscle palpation.


Asunto(s)
Masaje , Músculos Pterigoideos/fisiopatología , Síndrome de la Disfunción de Articulación Temporomandibular/terapia , Adolescente , Adulto , Dolor Facial/fisiopatología , Dolor Facial/terapia , Estudios de Factibilidad , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Cóndilo Mandibular/fisiopatología , Persona de Mediana Edad , Radiografía Panorámica , Rango del Movimiento Articular/fisiología , Sonido , Síndrome de la Disfunción de Articulación Temporomandibular/fisiopatología , Adulto Joven
15.
Catheter Cardiovasc Interv ; 70(1): 105-9, 2007 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-17377997

RESUMEN

A few cases of isolated pulmonary artery have been successfully palliated by stenting the arterial duct using coronary stents. However, progressive luminal narrowing within the stent due to neointimal proliferation and peal formation is a considerable problem. We report the successful interventional palliation in a 7-week-old infant with isolated left pulmonary artery using sirolimus-eluting stents. In this unusual case, the isolated pulmonary artery was supplied by a duct-like remnant of a persistent fifth aortic arch, whereby the distal part of this vessel showed severe constriction. Implantation of two sirolimus-eluting coronary stents re-established good perfusion of the left pulmonary artery. Seven months after the procedure, echocardiography revealed that perfusion of the stented vessel and the left pulmonary artery was still very good. Stents eluting antimitotic agents also help to preserve the patency of small vessels in infants, and may be useful for ductal stenting.


Asunto(s)
Angioplastia Coronaria con Balón/instrumentación , Aorta Torácica/anomalías , Fármacos Cardiovasculares/administración & dosificación , Conducto Arterial/anomalías , Cardiopatías Congénitas/terapia , Cuidados Paliativos , Arteria Pulmonar/anomalías , Sirolimus/administración & dosificación , Stents , Aorta Torácica/patología , Aorta Torácica/fisiopatología , Cateterismo Cardíaco , Angiografía Coronaria , Conducto Arterial/patología , Conducto Arterial/fisiopatología , Ecocardiografía , Femenino , Cardiopatías Congénitas/tratamiento farmacológico , Cardiopatías Congénitas/patología , Cardiopatías Congénitas/fisiopatología , Humanos , Lactante , Diseño de Prótesis , Arteria Pulmonar/patología , Arteria Pulmonar/fisiopatología , Circulación Pulmonar , Resultado del Tratamiento , Grado de Desobstrucción Vascular
17.
Ultraschall Med ; 26(4): 307-11, 2005 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-16123925

RESUMEN

AIM: Pulsed Doppler ultrasound is a standard noninvasive investigation to measure the velocity and pulsatility of blood flow within the major intracranial and organ-supplying arteries in critical care patients. The normal arterial flow pattern in organ-supplying vessels is characterised by a systolic-diastolic forward flow which is caused by the aortic "Windkessel" function and the low peripheral resistance of the parenchymatous organs. A variety of well known pathological conditions may cause a change of the vascular characteristics within the perfused organs which are diagnosed by the typical changes of the flow pattern in the supplying arteries. In the cardiac diastole, however, there is always a slow decrease of the flow velocity which is terminated by the onset of the following systole. METHOD AND RESULTS: We report on 11 patients investigated by Doppler ultrasound during their stay in our intensive care unit. All these patients presented a markedly different flow pattern measured in their intra- and/or extracerebral vessels. This very distinctive flow pattern is characterised by a diastolic ascent of the arterial flow velocity and is caused by an excessively increased venous pressure within the draining veins of the affected organs. All patients died due to (multiple) organ failure. CONCLUSION: It is of major importance to be aware of the rare but very characteristic flow pattern described here because of the poor prognosis associated with it.


Asunto(s)
Arterias/diagnóstico por imagen , Velocidad del Flujo Sanguíneo , Cuidados Críticos , Diástole/fisiología , Ecocardiografía/métodos , Ultrasonografía Doppler de Pulso/métodos , Arterias/patología , Humanos
18.
J Med Genet ; 42(11): 871-6, 2005 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-15831592

RESUMEN

INTRODUCTION: Clinical variability associated with the common 22q11.2 microdeletion is well known, and has led to a broad application of FISH diagnostics with probes for loci TUPLE1 or D22S75 (N25), although, rarely reported atypical deletions associated with the same phenotypic spectrum would not be discovered by these probes. As most types of 22q11.2 deletions occur between low copy repeats within the region (LCR22), we assumed that atypical deletions should be more common than has been reported. To address this question and the possibility of a deletion size related genotype-phenotype correlation, we systematically assessed the frequency of typical and atypical 22q11.2 deletions in a large cohort of patients. METHODS: We used a set of 10 fluorescent in situ hybridisation (FISH) DNA probes, capable of detecting all reported and hypothetical deletions between the LCR22, and analysed 350 patients. Deletion sizes in atypical deletions were established by use of further FISH probes. Frequency of certain atypical deletions was analysed in controls by FISH and quantitative PCR. RESULTS: Patients with conotruncal heart defects (ctCHD) and with typical VCFS phenotype showed the common 3 Mb or nested 1.5 Mb deletions (in 18.5% and 78.6%, respectively), but no atypical deletion, while 5% (3/63) of patients with a mildly suggestive, atypical phenotype showed atypical distal deletions, which were not detected in patients with mental retardation of unknown origin or in healthy controls. DISCUSSION: These statistically significant differences demonstrate that atypical distal 22q11.2 deletions are very uncommon in patients with ctCHDs, while atypical congenital heart defects and mild dysmorphism are recognisable feature of atypical distal deletions. Further phenotype-genotype analysis disclosed association of significant developmental delay with the distal part of the common deletion region, and choanal atresia and atypical CHDs with the adjacent distal deletion region.


Asunto(s)
Cromosomas Humanos Par 22 , Eliminación de Gen , Estudios de Cohortes , Facies , Femenino , Genotipo , Humanos , Hibridación Fluorescente in Situ , Discapacidad Intelectual/genética , Masculino , Modelos Genéticos , Sondas de Oligonucleótidos/genética , Fenotipo , Estudios Retrospectivos
19.
Ultraschall Med ; 26(1): 36-41, 2005 Feb.
Artículo en Alemán | MEDLINE | ID: mdl-15700226

RESUMEN

OBJECTIVE: To assess the sensitivity and specificity of echocardiography in the detection of anomalies of the subclavian artery (cervical origin, aberrant origin from the descending aorta or isolation) in patients with monosomy 22q11. METHOD: From 1/1998 until 03/2002 we examined 57 patients with conotruncal cardiac malformations. 30 patients had pulmonary atresia and ventricular septal defect (53 %), 13 interrupted aortic arch (23 %), 9 tetralogy of Fallot (16 %) and 5 common truncus arteriosus (9 %). Echocardiographic examination included identification of the laterality of the aortic arch as well as examination of the origin of the brachiocephalic vessels. The results were compared with angiographic and intraoperative findings. Median age at echocardiographic investigation was 74 days (range 1 d - 33.4 yrs.). RESULTS: Laterality of the aortic arch was assessed correctly in all patients. 20/57 patients had a right-sided aortic arch (35 %). Echocardiography detected all anomalies of the subclavian artery (14/57 patients, 25 %, sensitivity 100 %) and excluded these anomalies correctly in 43 patients (specificity 100 %). Exact classification of the anomaly of the subclavian artery was possible in 6/6 patients with a cervical origin of the artery and in 7/8 patients with aberrant origin from the descending aorta. Monosomy 22q11 was diagnosed in 21 patients (37 %). CONCLUSION: Echocardiography achieves a high sensitivity in the detection of anomalies of the subclavian artery. The diagnosis of cervical origin of the artery, in particular, can be easily established. As this anomaly appears to be a specific marker for monosomy 22q11, echocardiography facilitates reliable identification of these patients in clinical practice.


Asunto(s)
Aorta Torácica/anomalías , Cromosomas Humanos Par 22 , Monosomía/diagnóstico , Arteria Subclavia/anomalías , Arteria Subclavia/diagnóstico por imagen , Adolescente , Adulto , Aorta Torácica/diagnóstico por imagen , Arteria Carótida Común/diagnóstico por imagen , Niño , Preescolar , Mapeo Cromosómico , Humanos , Lactante , Recién Nacido , Transductores , Ultrasonografía
20.
Eur J Cardiothorac Surg ; 19(6): 908-13, 2001 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-11404151

RESUMEN

OBJECTIVE: Colon/rectum cancer often presents with intrapulmonary metastases. Surgical resection can be performed in a selected group of patients. In this study, the search for possible prognostic factors of patients with primary colon/rectum cancer and lung metastases was performed. METHODS: Medical records of 110 patients operated on pulmonary metastases of primary colon/rectum cancer were reviewed. The clinical parameters include age, sex, pTNM/UICC stage, grading, localization, surgical and adjuvant therapy of the primary cancer. The number, maximum diameter and total intra-thoracic resected tumor-mass ('load'), the pre-thoracotomy serum carcinoembryonic antigen (CEA) levels, localization of the metastases (uni- vs. bilateral), the presence of hilar/mediastinal tumor-infiltrated lymph nodes, the surgical procedure and performed therapy schemes of lung metastases were recorded. RESULTS: The cumulated 5- and 10-year total survival after diagnosis of the primary carcinomas was estimated to 71 and 33.7%, respectively. After resection of the pulmonary metastases, the 3- and 5-year post-thoracotomy survival measured 57 and 32.6%, respectively. The median time interval between diagnosis of the primary cancer and thoracotomy (disease free interval (DFI)) was found to be 35 months. A non-negligible percentage of patients (15.4%) displayed limited tumor stages of the primary cancer (pT1/2, pN0). The median diameter of the largest metastasis measured 28 mm, and the median resected intrathoracic tumor-load was calculated to 11.4 cm(3). In only 8 patients hilar or mediastinal tumor-involved lymph nodes were found. A potentially curative resection of lung metastases was recorded in 96 patients. The overall survival was significantly correlated with the DFI and the number of intrapulmonary metastases. The DFI correlated significantly with the tumor load and the number of metastases; the post-thoracotomy survival with the number of metastases, tumor-load and pre-thoracotomy serum CEA level. Treatment, stage and grade of the primary cancer, occurrence of liver metastases and local recurrences, mode of treatment of metastases and postoperative residual stage had no significant correlation with either total nor post-thoracotomy survival. CONCLUSIONS: Pulmonary metastases occur even in patients with limited tumor-stages of primary colon/rectum cancer. DFI is the major parameter to estimate the total survival of patients with lung metastases. The survival after thoracotomy depends on the number of metastases, the intrapulmonary tumor load and the presence of elevated serum CEA level prior to thoracotomy.


Asunto(s)
Neoplasias Colorrectales/mortalidad , Neoplasias Pulmonares/mortalidad , Neoplasias Pulmonares/secundario , Adulto , Anciano , Antígeno Carcinoembrionario/sangre , Neoplasias Colorrectales/cirugía , Supervivencia sin Enfermedad , Femenino , Humanos , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/cirugía , Masculino , Persona de Mediana Edad , Metástasis de la Neoplasia , Tasa de Supervivencia
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