RESUMO
OBJECTIVES: To review clinical and epidemiologic data of orofacial clefts and to evaluate the efficacy and the impact of prenatal diagnosis. MATERIAL AND METHODS: A population-based retrospective study was carried out on data from the Congenital Malformations of Alsace Registry (France) between 1995 and 2006. RESULTS: A total of 321 orofacial clefts were recorded (overall prevalence, 2.1 per 1000), divided into cleft lip (CL) or cleft lip palate (CLP) (204 cases) and cleft palate (117 cases). The cleft lip and cleft lip palate CL±P sex-ratio was 1.87, whereas the CP sex-ratio was 1. CLs were more often unilateral than CLPs (79% versus 59%). CLs were unilateral in 79% of the cases (60/76), bilateral in 20% of the cases (15/76), and median in 1% (1/76); 55% of the unilateral CLs were right and 45% were left. CLPs were unilateral in 59% of the cases (76/128), bilateral in 39% of the cases (50/128), and median in 2% (2/128); 45% of the unilateral CLPs were right and 55% were left. The 117 CPs were divided into 50 clefts of the total palate (43%) and 67 clefts of the posterior palate (57%); 25 cases (21%) of Pierre Robin sequence were collected. Sixty-six percent of CL±P (134/204) were associated with other congenital anomalies, including chromosome abnormality in 31 cases and identified monogenic syndrome or association in 12 cases. The most frequent chromosome abnormalities were 16 cases of trisomy 13 and 7 cases of trisomy 18. No cases of 22q11.2 microdeletion or duplication were detected among CL±P. Monogenic syndromes were identified in 6% (12/204) of CL±P cases: Van der Woude syndrome (2 cases); CHARGE syndrome (2 cases); ectrodactyly, ectodermal dysplasia, and cleft/lip palate (EEC) syndrome (2 cases); branchiooculofacial (BOF) syndrome (1 case); Treacher-Collins syndrome (1 case); Nager syndrome (1 case); Goldenhar syndrome (1 case); holoprosencephaly spectrum (1 case); and Meckel syndrome (1 case). Forty-two percent of CPs (49/117) were associated with other congenital anomalies; chromosome abnormality was identified in 12 cases and monogenic syndrome was diagnosed in 14 cases. The most frequent chromosome abnormality was 22q11 microdeletion (5 cases). Monogenic syndromes were recognized in 12% of the CP cases (14/117): fragile X syndrome (2 cases), Meckel syndrome (2 cases), Orofaciodigital syndrome type I (OFD1) (1 case), Stickler syndrome (1 case), Larsen syndrome (1 case), Kniest syndrome (1 case), Cornelia de Lange syndrome (1 case), thanatophoric dysplasia (1 case), other unknown bone chondrodysplasia (1 case), Fryns syndrome (1 case), fetal akinesia sequence (1 case), and Silver-Russel syndrome (1 case). Fifty-two percent of CL cases (106/204) were prenatally diagnosed. An increasing tendency was observed between the 1995-2000 and 2001-2006 periods with a detection rate increasing from 47% to 56%. During the whole period, only 1 case of CP was prenatally diagnosed. Eighty-two percent of all cases (263/321) were livebirths; 8 stillbirths were reported (2%); 50 syndromic or associated cases (16%) led to medical abortion (no termination of pregnancy was performed for isolated cleft). CONCLUSION: Orofacial clefts are a frequent malformation with a total prevalence of 2.1 per 1000 total births. Sonbographic prenatal diagnosis of orofacial clefts remains difficult with a mean detection rate about 50% for CL±P and is extremely rare for CP. Associated malformations and genetic syndromes are frequent and require a systematic survey. This study also highlights the different pathogenic background of CL±P compared to CP, regarding the sex-ratio and the proportion and type of associated malformations.
Assuntos
Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/genética , Aborto Induzido/estatística & dados numéricos , Aberrações Cromossômicas , Feminino , França/epidemiologia , Humanos , Nascido Vivo/epidemiologia , Masculino , Gravidez , Diagnóstico Pré-Natal/estatística & dados numéricos , Sistema de Registros , Estudos Retrospectivos , Distribuição por Sexo , Natimorto/epidemiologiaRESUMO
We report the case of an infant who underwent surgery on the first day of life for a giant omphalocele. At the age of 16 months, he presented an acute abdominal syndrome and died a few hours later. Autopsy revealed a twisted left liver lobe (LL) including a suprahepatic vein. To our knowledge, this is the first case of giant omphalocele complicated by twisted liver lobe and fatal outcome.
Assuntos
Hérnia Umbilical/patologia , Hérnia Umbilical/cirurgia , Complicações Pós-Operatórias/mortalidade , Complicações Pós-Operatórias/patologia , Anormalidade Torcional/mortalidade , Anormalidade Torcional/patologia , Abdome Agudo/etiologia , Abdome Agudo/patologia , Causas de Morte , Evolução Fatal , Seguimentos , Hérnia Umbilical/mortalidade , Humanos , Lactente , Recém-Nascido , Infarto/mortalidade , Infarto/patologia , Fígado/irrigação sanguínea , Fígado/patologia , Masculino , UltrassonografiaRESUMO
OBJECTIVE: We report here on our experience with a modified Spitz procedure using a Collis gastroplasty for the repair of long-gap esophageal atresia (EA). PATIENTS AND METHODS: The authors reviewed 5 cases of children with long-gap (5-6 vertebral bodies) EA. The repair was carried out after 3 months of permanent monitoring, enteral nutrition through a gastrostomy tube and permanent aspiration of the proximal esophagus. The Collis gastroplasty was performed to create a gastric tube along the gastric lesser curvature using an Endo-GIA linear stapler. The gastric tube can be easily mobilized into the thorax after ligation of the left gastric vessels and anastomosed to the proximal esophageal segment. RESULTS: There were no intraoperative complications. The median postoperative hospital stay was 39 days (range: 30-60) with a median follow-up of 20 months (range: 16-29). During the early follow-up period, a digestive occlusion occurred in one patient, and several months later, she suffered from hiatal herniation. Other postoperative complications included anastomotic stricture (n = 2) treated by dilatations, gastroesophageal reflux (GER) (n = 3), and weight delay (n = 3) requiring additional enteral nutrition in 2 cases. No mortality was seen in our series. CONCLUSIONS: We propose a modified Spitz procedure using a Collis gastroplasty in the primary repair of long-gap EA as an alternative option to esophageal replacement or elongation techniques. The complications noted in our series are common complications of EA surgical repair, such as GER, anastomotic stricture and ponderal stagnation.
Assuntos
Atresia Esofágica/cirurgia , Gastroplastia/métodos , Feminino , Humanos , Recém-Nascido , Masculino , Estudos Retrospectivos , Grampeamento CirúrgicoAssuntos
Neoplasias do Ânus , Carcinoma de Células Escamosas , Condiloma Acuminado , Neoplasias do Ânus/patologia , Neoplasias do Ânus/cirurgia , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/cirurgia , Abuso Sexual na Infância/diagnóstico , Pré-Escolar , Condiloma Acuminado/patologia , Condiloma Acuminado/cirurgia , Eletrocoagulação , Feminino , Humanos , MasculinoRESUMO
OBJECTIVES: Laparoscopic treatment of inguinal hernias in children remains controversial. The inguinal approach is the only recommended procedure nowadays. The aim of our series was to precise the results of this technique and its advantages. POPULATION AND METHODS: We report our preliminary experience in laparoscopy for inguinal hernias in 212 children. RESULTS: Laparoscopy allowed us to discover 26 controlateral hernias not previously diagnosed, 3 direct hernias with 1 of them associated with a patent process vaginalis, 2 femoral hernias associated with a patent process vaginalis, 1 double pouch hernia and 1 volvulus of a cyst developed from a patent process vaginalis. In case of recurrence after an inguinal approach, laparoscopy seemed to be helpful to evaluate the anatomical lesion. We observed only 1 recurrence. DISCUSSION: Indications for laparoscopy in case of inguinal hernia in children are reviewed and discussed in the literature. Laparoscopic diagnosis for a precise diagnosis is no more discussed. Various techniques were proposed in case of laparoscopic treatment of inguinal hernias in children: most of surgeons realized only a suture of the sac. We prefer to dissect all the sac in order to avoid any recurrence. Advantages of laparoscopic approach become more obvious after the age of 2 years when the opening of the parietal wall is required in case of an inguinal approach and when local anaesthesia is no more recommended. The opportunity to diagnose a bilateral hernia when non diagnosed before surgery or to discover a femoral or a direct hernia, or in case of recurrence after an inguinal approach, the atraumatic dissection of the vas and spermatic vessels at the level of the internal inguinal ring, are the main advantages for laparoscopy.
Assuntos
Hérnia Inguinal/cirurgia , Laparoscopia/métodos , Pré-Escolar , Feminino , Hérnia Inguinal/congênito , Humanos , Masculino , Pais , Satisfação do Paciente , Resultado do TratamentoRESUMO
We report on the case of a 9-year-old girl who presented vaginal bleeding which led to the diagnosis of vaginal hemangioma. Such localisation is rare, and requires a clinical follow-up by vaginoscopy. A spontaneous regression can be expected but, at this time, the progress of puberty and future fertility are unknown.
Assuntos
Hemangioma/diagnóstico , Hemorragia/etiologia , Doenças Vaginais/diagnóstico , Criança , Feminino , HumanosRESUMO
Non-operative management of splenic trauma is one of the most notable advances in paediatric surgery. It should be systematically proposed except for cases of hemodynamic instability. Abdominal CT scan without and with contrast injection is essential with initial optimal management. Stay in paediatric surgical intensive care unit with monitoring can prevent rare but serious complications. The time of hospitalisation stay lies between two and three weeks and will be followed by three months without contact activity. The advantages of this treatment are obvious safeguarding of splenic function and absence of postoperative complications. Consequently only one of the 88 children admitted these ten last past years for splenic trauma in our unity was operated.
Assuntos
Baço/lesões , Ferimentos e Lesões/terapia , Criança , Hemodinâmica , Hospitalização , Humanos , Unidades de Terapia Intensiva Pediátrica , Planejamento de Assistência ao Paciente , Tomografia Computadorizada por Raios XRESUMO
Many protocols to extract DNA directly from soil samples have been developed in recent years. We employed two extraction methods which differed in the method of lysis and compared these methods with respect to yield, purity and degree of shearing. The main focus was on the specific isolation of DNA from different microorganisms, especially DNA from actinomycetes, as these cells are very difficult to lyse, in contrast to non-actinomycetes. Thus, we used both methods to isolate DNA from Pseudomonas, Arthrobacter and Rhodococcus and from soil spiked with the respective microorganisms. Both methods rendered high DNA yields with a low degree of shearing, but differed in the type of cells that were lysed. By one protocol (utilizing enzymatic lysis) only DNA from the Gram-negative Pseudomonas strain could be obtained whereas, by the other protocol (utilizing mechanical lysis), all microorganisms that were used could be lysed and DNA extracted from them. Using a combination of both protocols, DNA from those organisms could be obtained selectively. Furthermore, one of the protocols was modified, resulting in higher DNA yield and purity.
Assuntos
Actinobacteria/genética , DNA Bacteriano/isolamento & purificação , Microbiologia do Solo , Clonagem Molecular , DNA Bacteriano/química , DNA Bacteriano/genética , Reação em Cadeia da Polimerase , RNA Ribossômico 23S/química , RNA Ribossômico 23S/genética , Manejo de Espécimes/métodosRESUMO
The biological function of thermostable P450 monooxygenase CYP175A1 from Thermus thermophilus HB27 was studied by functional complementation in Escherichia coli. The gene product of CYP175A1 added hydroxyl groups to both beta rings of beta-carotene to form zeaxanthin (beta,beta-carotene-3,3'-diol) in E. coli, which produces beta-carotene due to the Erwinia uredovora carotenoid biosynthesis genes. In addition, spectroscopic methods revealed that E. coli carrying CYP175A1 and the cDNA of the Haematococcus pluvialis carotene ketolase was able to synthesise hydroxyechinenone. The predicted amino acid sequence of the enzyme from T. thermophilus does not show substantial similarity with other known beta-carotene hydroxylases, but 41% with the cytochrome P450 monooxygenase from Bacillus megaterium (CYP102A1, P450 BM3). It is concluded that CYP175 A1 represents a new type of beta-carotene hydroxylase of the P450 superfamily.
Assuntos
Sistema Enzimático do Citocromo P-450/metabolismo , Oxigenases de Função Mista/metabolismo , Thermus thermophilus/enzimologia , beta Caroteno/metabolismo , DNA Bacteriano/química , DNA Bacteriano/genética , Erwinia/genética , Escherichia coli/genética , Teste de Complementação Genética , Isoenzimas , Oxigenases de Função Mista/genética , Thermus thermophilus/genética , Transformação Genética/genéticaRESUMO
PURPOSE: Most pediatric surgical teams have adopted nonoperative treatment for a traumatic kidney lesion in children. In the emergency setting and at long-term followup dimercaptosuccinic acid (DMSA) scintigraphy enables us to identify the consequences on global renal function as well as on the function of each individual kidney. MATERIALS AND METHODS: Eight boys and 12 girls between 0.6 and 15.9 years old (average age 9.7) were evaluated after including renal trauma, minor and major injury in 10 each. Scintigraphy was performed 8 days and 6 months after injury. The tracer used was 2 MBq./kg. Tc-DMSA. Semiquantitative analysis of the images consisted of determining 2 parameters, namely relative renal function, corresponding to the fraction of activity of a single kidney compared to the activity of the 2 kidneys, and the calculated renal activity fraction, corresponding to the function of each kidney compared with the activity of a theoretical kidney in a child of the same age. The posttraumatic renal scintigraphy series was paired with a series of healthy children matched by age, weight, height, sex and affected side of function as a control group. Global renal function was also measured using a formula based on ethylenediaminetetraacetic acid scintigraphy with the height, weight and increased serum creatinine in each patient. RESULTS: For minor injuries the quantitative functional evaluation revealed a significant average loss of renal function +/- SD on the side of the lesion (12.8% +/- 3.1% versus 18.3% +/- 2%, p = 0.001). For major injuries on relative renal function evaluation we noted an average 36-point difference in the damaged and contralateral kidneys 8 days after the accident. Six months after trauma we noted a definitive loss of 48% in the calculated renal activity fraction on the side of the lesion. There was no compensatory hypertrophy on the noninjured side when the calculated renal activity fraction was compared with that of a normal kidney in a control patient (mean 19.1% +/- 4.2% versus 19.5% +/- 3.7%, not significant). Creatinine clearance was normal in each patient. DISCUSSION A renal contusion always induces parenchymal loss. Major kidney trauma has significant consequences on the opposite side. At 6 months the presumably uninjured contralateral kidney may be limited in its ability to compensate through hypertrophy, which worsens the global renal functional prognosis of a traumatic but initially unilateral lesion. CONCLUSIONS: Posttraumatic functional evaluation by DMSA scintigraphy, which measures the nephron capital of each kidney and the 2 together, seems essential to inform patients about the seriousness of the lesion and lead them to an eventual long-term nephrological followup with regular blood pressure assessment.
Assuntos
Rim/diagnóstico por imagem , Rim/lesões , Succímero , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Escala de Gravidade do Ferimento , Rim/fisiopatologia , Masculino , CintilografiaRESUMO
The thermoalkalophilic lipase from Bacillus thermocatenulatus BTL2 exhibits a low phospholipase activity (lecithin/tributyrin ratio 0.03). A single round of random mutagenesis of the BTL2 gene followed by screening of 6000 transformants on egg-yolk plates identified three variants with 10-12-fold increased phospholipase activities, corresponding to lecithin/tributyrin ratios of 0.16-0.36. All variants were specific for the sn-1 acyl ester bond of 1-palmitoyl-2-oleoyl-sn-glycero-3-phosphocholine. Mutations occurred predominantly in the N-terminal part of BTL2 with regions surrounding the predicted helix alpha(4) and lid as hotspots. Two mutations, L184P located in the predicted helix alpha(4) and H15P found in the highly conserved oxy-anion hole motif among hydrolases, were identified to account for increased phospholipase activity. Two of the three variants showed reduced activities towards medium- and long-chain fatty acyl methyl esters compared to the wild-type enzyme. Substitution of Leu353 with Ser, which is located adjacent to the active site histidine and is important for phospholipase activity in the Staphylococcus hyicus lipase, increased the absolute phospholipase activities of the variants, but not of BTL2, approximately 2-fold. The engineered best variant displayed a lecithin/tributyrin ratio of 0.52, corresponding to a 17-fold increase compared to the wild-type enzyme. Moreover, this variant exhibited a 1.5-4-fold higher activity towards long-chain fatty acyl methyl ester (C18:1, C18:2, C18 and C20) compared to BTL2. A second round of mutagenesis and screening on lecithin-plates yielded no new variants with further increased phospholipase/lipase activity ratios, but instead one variant with a 5-fold increased expression rate and two variants with a 3-fold reduced activity towards triolein were obtained.
Assuntos
Bacillus/enzimologia , Lipase/química , Fosfolipases/química , Sequência de Aminoácidos , Sítios de Ligação , Escherichia coli/metabolismo , Biblioteca Gênica , Histidina/química , Leucina/química , Dados de Sequência Molecular , Mutagênese , Mutagênese Sítio-Dirigida , Mutação , Plasmídeos/metabolismo , Ligação Proteica , Conformação Proteica , Recombinação Genética , Análise de Sequência de DNA , Homologia de Sequência de Aminoácidos , Serina/químicaRESUMO
Telomerase, the ribonucleoprotein enzyme maintaining the telomeres of eukaryotic chromosomes, is active in most human cancers and in germline cells but, with few exceptions, not in normal human somatic tissues. Telomere maintenance is essential to the replicative potential of malignant cells and the inhibition of telomerase can lead to telomere shortening and cessation of unrestrained proliferation. We describe novel chemical compounds which selectively inhibit telomerase in vitro and in vivo. Treatment of cancer cells with these inhibitors leads to progressive telomere shortening, with no acute cytotoxicity, but a proliferation arrest after a characteristic lag period with hallmarks of senescence, including morphological, mitotic and chromosomal aberrations and altered patterns of gene expression. Telomerase inhibition and telomere shortening also result in a marked reduction of the tumorigenic potential of drug-treated tumour cells in a mouse xenograft model. This model was also used to demonstrate in vivo efficacy with no adverse side effects and uncomplicated oral administration of the inhibitor. These findings indicate that potent and selective, non-nucleosidic telomerase inhibitors can be designed as novel cancer treatment modalities.
Assuntos
Divisão Celular/efeitos dos fármacos , Inibidores Enzimáticos/farmacologia , Telomerase/antagonistas & inibidores , Perfilação da Expressão Gênica , Humanos , Neoplasias/genética , Neoplasias/patologia , Análise de Sequência com Séries de Oligonucleotídeos , RNA Mensageiro/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Telômero , Células Tumorais CultivadasRESUMO
BACKGROUND: Delayed presentations of congenital hernia occurring outside of the neonatal period have been reported for all ages. Classically, repair of the hernia defect involves a transverse subcostal laparotomy in the pediatric age group and usually a thoracotomy in the adult. The first report describing a laparoscopic repair of a congenital diaphragmatic hernia in a 6-month-old infant was published in 1995. During the past 25 years, 17 patients with delayed presentation of congenital diaphragmatic hernias have been managed by our pediatric surgery team. The last three patients underwent surgery thoracoscopically. PATIENTS AND METHODS: This study involved two boys (ages, 8.3 and 19 months, respectively) and one girl (age, 9 months) weighing 8 to 13 kg. All three infants underwent surgery using a thoracoscopic approach with general anesthesia. A thoracic epidural catheter was placed systematically for postoperative analgesia during the first 24 hours. Reduction of the hernia contents using one optical trocar and two operating trocars was difficult in the case without any hernia sac. In the cases with a hernia sac, reduction was easily and quickly obtained with a pleural insufflation of carbon dioxide (~8 mmHg). The hernia defect was repaired using interrupted sutures of 2/0 Ethibond. For two of the three patients, this repair was reinforced with staples in the one case and a nonresorbable mesh in the other case. RESULTS: The mean operative time was 78 min. The chest tube was removed on the first or second postoperative day and the patients were discharged on the fourth or fifth postoperative day. At the 19-month follow-up assessment in one case, the chest x-ray was perfectly normal and diaphragmatic motion also was confirmed to be normal by ultrasonography. CONCLUSIONS: The thoracoscopic approach for the repair of delayed-presentation congenital diaphragmatic hernia is feasible. Our results demonstrate the safety and efficiency of this surgery, as well as a remarkable functional and cosmetic result and a very quick recovery.
Assuntos
Hérnia Diafragmática/cirurgia , Hérnias Diafragmáticas Congênitas , Toracoscopia , Feminino , Humanos , Lactente , MasculinoRESUMO
UNLABELLED: Three-flap anoplasty was first described in 1987 by Yazbeck for the treatment of rectal prolapse after pull-through operations for imperforate anus, and in 1992 in a case of anterior perineal approach. It is intended to reproduce the normal anatomy of a sensitive anal canal. The purpose of this study is to evaluate 14 children (9 boys and 5 girls) operated for imperforate anus. METHOD: Eleven children had an intermediate or high imperforate anus and 3 had a low imperforate anus. Nine were operated for the first time with a three-flap anoplasty (GrA), and 5 were reoperated with this technique because of fecal incontinence and/or rectal prolapse (GrB). Seven patients had associated malformations: one Hirschsprung's disease, one cloacal defect with renal insufficiency, three complex caudal malformations with tethered cord, one Down syndrome, and two psychological and psychomotor troubles. The patients (average age = 6 years) have been evaluated every year since 1997, with a questionnaire based on a clinical score validated with 30 healthy children, used as a control group. Ten anal manometries were carried out. RESULTS: In 1998, the GrA score was 16.1 (control = 22.5) and the GrB score was 11.5 (p = 0.25). In 1999, GrA and GrB score were approximately the same. The score of those without associated anomalies was 19.6 whereas the score of the children with other malformations or anomalies was 10 (p = 0.02). Anal manometry is almost normal in patients with low or intermediate imperforate anus (rectoanal relaxation reflex for 10 cm H2O, and basal resting pressure more than 40 cm H2O). Even though anal manometry is subnormal in patients with Down syndrome or psychomotor troubles, the clinical score remains low (score = 10). In cases of complex caudal malformations or high imperforate anus, the results of anal manometry and clinical score are bad (score 9.7). CONCLUSION: The three-flap anoplasty can be carried out in newborns without colostomy and often represents the only possible surgical approach to avoid a laparotomy. This plasty, proposed secondarily to correct a defect of continence, can be performed without colostomy, with satisfactory results.
Assuntos
Anus Imperfurado/cirurgia , Retalhos Cirúrgicos , Criança , Pré-Escolar , Feminino , Doença de Hirschsprung/complicações , Humanos , Recém-Nascido , Masculino , Manometria/métodos , Inquéritos e QuestionáriosRESUMO
BACKGROUND: A major current focus of pharmaceutical research is the development of selective inhibitors of the blood coagulation enzymes thrombin or factor Xa to be used as orally bioavailable anticoagulant drugs in thromboembolic disorders and in the prevention of venous and arterial thrombosis. Simultaneous direct inhibition of thrombin and factor Xa by synthetic proteinase inhibitors as a novel approach to antithrombotic therapy could result in potent anticoagulants with improved pharmacological properties. RESULTS: The binding mode of such dual specific inhibitors of thrombin and factor Xa was determined for the first time by comparative crystallography using human alpha-thrombin, human des-Gla (1--44) factor Xa and bovine trypsin as the ligand receptors. The benzamidine-based inhibitors utilize two different conformations for the interaction with thrombin and factor Xa/trypsin, which are evoked by the steric requirements of the topologically different S2 subsites of the enzymes. Compared to the unliganded forms of the proteinases, ligand binding induces conformational adjustments of thrombin and factor Xa active site residues indicative of a pronounced induced fit mechanism. CONCLUSION: The structural data reveal the molecular basis for a desired unselective inhibition of the two key components of the blood coagulation cascade. The 4-(1-methyl-benzimidazole-2-yl)-methylamino-benzamidine moieties of the inhibitors are able to fill both the small solvent accessible as well as the larger hydrophobic S2 pockets of factor Xa and thrombin, respectively. Distal fragments of the inhibitors are identified which fit into both the cation hole/aromatic box of factor Xa and the hydrophobic aryl binding site of thrombin. Thus, binding constants in the medium-to-low nanomolar range are obtained against both enzymes.
Assuntos
Inibidores dos Fatores de Coagulação Sanguínea/farmacologia , Coagulação Sanguínea/efeitos dos fármacos , Inibidores do Fator Xa , Fator Xa/química , Trombina/antagonistas & inibidores , Trombina/química , Trombina/metabolismo , Animais , Bovinos , Cristalografia por Raios X , Humanos , Ligantes , Modelos Moleculares , Ligação Proteica , Conformação Proteica , Trombose/prevenção & controle , Tripsina/metabolismoRESUMO
A new case report of laparoscopic repair of a diaphragmatic hernia through the foramen of Morgagni in a 11-year-old boy with Down's syndrome is described. The review of 11 other cases in the adult literature illustrated the various aspects of this laparoscopic approach.
Assuntos
Hérnia Diafragmática/cirurgia , Laparoscopia/métodos , Adulto , Criança , Síndrome de Down/complicações , Hérnia Diafragmática/patologia , Humanos , Masculino , Resultado do TratamentoRESUMO
The recognition of laryngeal pathology by analysis of the voice is investigated. The fundamental frequency and the first three formants are considered. The recognition strategy is based on comparison with normal ranges calculated over 200 ordinary voices, grouped in ten age classes ranging from 20 to 70 years, for males and females. 220 test voices are studied divided into four groups: normal voices, functional dysphonia, nodules and recurrent nerve palsy. Each subject is marked according to his/her normal range. Parameters (or items) are calculated on the Interactive Laboratory System workstation. The vocalic material is composed of 11 vowels taken from a sentence. Results are given in terms of the number of values out of the normal ranges. Statistical analysis considers both parameter ability and error rates in pathology recognition. Pathology recognition shows the following error percentages: 23% for dysphonia, 14% for nodules and 33% for recurrent nerve palsy. Parameters do not show the same efficiency for voice pathology characterisation. Formants appear to be better than the fundamental frequency.
Assuntos
Doenças da Laringe/diagnóstico , Acústica da Fala , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva , Valores de Referência , Paralisia das Pregas Vocais/diagnóstico , Distúrbios da Voz/diagnósticoAssuntos
Implantes Cocleares , Surdez/reabilitação , Qualidade da Voz , Criança , Humanos , Fonética , Percepção da FalaRESUMO
Cepstral coefficients calculated out of a linear prediction have been used to discriminate two groups of 19 control children and 12 patients with velar impairment. French vowels /a/, /i/, /u/ had been studied using the cepstral coefficients. Vowels /i/ and /u/ appeared to be efficient to perform the separation on acoustic grounds. A 100% recognition score can be reached when the two vowels are considered together. Modifications of the cepstrums dealing with velar incompetence are also discussed. A way to make an automatic grading of the pathology is finally presented.
Assuntos
Transtornos da Articulação/diagnóstico , Fonética , Testes de Discriminação da Fala , Inteligibilidade da Fala , Insuficiência Velofaríngea/diagnóstico , Transtornos da Articulação/classificação , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Processamento de Sinais Assistido por Computador/instrumentação , Espectrografia do Som/instrumentação , Testes de Discriminação da Fala/instrumentação , Insuficiência Velofaríngea/classificaçãoRESUMO
About a recent case of Launois-Bensaude's disease (Madelung's disease) the authors discuss the possibility of complications such as bronchopathy and sleep apnoea syndrome. General anaesthetics have to be performed with care, the anaesthetic risk exists even so during the premedication. Such patients have to be explored before the general anaesthetics by sleep polysomnography.