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Enfermedad de la Arteria Coronaria , Estenosis Coronaria , Reserva del Flujo Fraccional Miocárdico , Humanos , Enfermedad de la Arteria Coronaria/diagnóstico por imagen , Angiografía Coronaria , Angiografía por Tomografía Computarizada , Atención a la Salud , Valor Predictivo de las Pruebas , Vasos Coronarios , Índice de Severidad de la EnfermedadRESUMEN
OBJECTIVES: The aim of this study is to evaluate long-term facial growth in adults previously treated for an isolated unilateral complete cleft lip, alveolus and palate by two-stage palatoplasty. MATERIALS AND METHODS: Unilateral cleft lip and palate (UCLP) patients of 17 years and older treated by two-stage palatoplasty were invited for long-term follow-up. During follow-up, lateral cephalograms were obtained (n = 52). Medical history was acquired from their medical files. Outcome was compared to previously published normal values and the Eurocleft study. RESULTS: Soft and hard palate closure were performed at the age of 8 (SD 5.9) months and 3 (SD 2.2) years, respectively. The mean maxillary and mandibular angle (SNA, SNB) were 74.9° (SD 4.2) and 75.8° (SD 3.8). Maxillary and maxillomandibular relationships (SNA, ANB) were comparable to all Eurocleft Centres, except for Centre D. We observed a significantly steeper upper interincisor angle compared to the Eurocleft Centres. CONCLUSIONS: This study describes the long-term craniofacial morphology in adults treated for a UCLP with hard palate closure at a mean age of 3 years. The mean maxillary angle SNA and mandibular angle SNPg were comparable to previous studies both applying early and delayed hard palate closure. The observed upper incisor proclination is likely caused by orthodontic overcorrection in response to the unfavourable jaw relationships. No clear growth benefit of this protocol could be demonstrated. CLINICAL RELEVANCE: The present study shows the long-term craniofacial morphology of UCLP adults after the Utrecht treatment protocol which includes two-stage palate closure.
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Labio Leporino/fisiopatología , Labio Leporino/cirugía , Fisura del Paladar/fisiopatología , Fisura del Paladar/cirugía , Desarrollo Maxilofacial/fisiología , Adolescente , Cefalometría , Labio Leporino/diagnóstico por imagen , Fisura del Paladar/diagnóstico por imagen , Femenino , Humanos , Masculino , Adulto JovenRESUMEN
Cleft palate only (CPO) is a common congenital malformation, and most patients are diagnosed within the first weeks after birth. Late diagnosis of the cleft palate (CP) could initially result in feeding and growth impairment, and subsequently speech and hearing problems later in life. The purpose of this study is to retrospectively investigate (1) at which age CPO is diagnosed and (2) how the presence of syndromes and other factors relate to the age at diagnosis. The mean age of all children at our centre with CPO included between 1997 and 2014 at diagnosis (n = 271) was 1 year and 4 months. In all, 24.8% (n = 67) was older than 12 months when diagnosed, and 37.3% (n = 101) of all children had been diagnosed >30 days. These findings remain valid when a cut-off point of 14 days is used (44.3% late). Moreover, the grade of the cleft was a determining factor for successful diagnosis; submucous clefts were detected much later on average (89.3% > 30 days; p = .000). Similar results were found using Kaplan-Meier survival analyses. CONCLUSION: CPO is often diagnosed late. Patients diagnosed ≤30 days after birth more often presented with an associated disorder. Early diagnoses became more frequent as the severity of the cleft increased (grades 1-4). Professionals should perform more thorough intra-oral investigations, including manual palpations and visual inspections of the palate; they should be made more aware of the frequent accompanying symptoms. WHAT IS KNOWN: The presence of cleft palate only (CPO) is known to negatively affect feeding, hearing, speech and (social) development. Submucous clefts are often underdiagnosed due to their difficulty to detect. As far as we know the literature shows that symptomatic submucous CPs are often diagnosed at an average age of 4.9 years. WHAT IS NEW: 37.3% respectively of all children with CPO were diagnosed relatively late (>30 days after birth), 24.8% was older than 12 months when diagnosed. Mean age of all children with CPO was 1 year and 4 months. We conclude that midwives and pediatricians should perform more through intra-oral investigations of all new-borns, including both a manual palpation, als well a visual inspection of the palate.
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Fisura del Paladar/diagnóstico , Factores de Edad , Fisura del Paladar/mortalidad , Fisura del Paladar/patología , Parto Obstétrico , Femenino , Edad Gestacional , Humanos , Lactante , Recién Nacido , Estimación de Kaplan-Meier , Masculino , Derivación y Consulta , Estudios RetrospectivosRESUMEN
BACKGROUND: Dutch F-16 fighter pilots experience oxygen mask inflicted nasal trauma, including discomfort, pain, skin abrasions, bruises and bone remodelling. Pressure and shear forces on the nose might contribute to causing these adverse effects. In this study, it was evaluated how flight conditions affected the exerted pressure, and whether shear forces were present. METHODS: The pressure exerted by the oxygen mask was measured in 20 volunteers by placing pressure sensors on the nose and chin underneath the mask. In the human centrifuge, the effects on the exerted pressure during different flight conditions were evaluated (+3Gz, +6Gz, +9Gz, protocolised head movements, mounted visor or night vision goggles, NVG). The runs were recorded to evaluate if the mask's position changed during the run, which would confirm the presence of shear forces. RESULTS: Head movements increased the median pressure on the nose by 50â mmâ Hg and on the chin by 37â mmâ Hg. NVG, a visor and accelerative forces also increased the median pressure on the nose. Pressure drops on the nose were also observed, during mounted NVG (-63â mmâ Hg). The recordings showed the mask slid downwards, especially during the acceleration phase of the centrifuge run, signifying the presence of shear forces. CONCLUSIONS: The exerted pressure by the oxygen mask changes during different flight conditions. Exposure to changing pressures and to shear forces probably contributes to mask-inflicted nasal trauma.
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Medicina Aeroespacial , Máscaras , Personal Militar , Nariz/lesiones , Pilotos , Presión , Estrés Mecánico , Adulto , Humanos , Masculino , Países Bajos , Terapia por Inhalación de Oxígeno , Resistencia al CorteRESUMEN
STUDY QUESTION: What percentage of cases with non-syndromic hypospadias can be ascribed to mutations in known causative/candidate/susceptibility genes or submicroscopic copy-number variations (CNVs) in the genome? SUMMARY ANSWER: Monogenic and digenic mutations in known causative genes and cryptic CNVs account for >10% of cases with non-syndromic hypospadias. While known susceptibility polymorphisms appear to play a minor role in the development of this condition, further studies are required to validate this observation. WHAT IS KNOWN ALREADY: Fifteen causative, three candidate, and 14 susceptible genes, and a few submicroscopic CNVs have been implicated in non-syndromic hypospadias. STUDY DESIGN, SIZE, DURATION: Systematic mutation screening and genome-wide copy-number analysis of 62 patients. PARTICIPANTS/MATERIALS, SETTING, METHODS: The study group consisted of 57 Japanese and five Vietnamese patients with non-syndromic hypospadias. Systematic mutation screening was performed for 25 known causative/candidate/susceptibility genes using a next-generation sequencer. Functional consequences of nucleotide alterations were assessed by in silico assays. The frequencies of polymorphisms in the patient group were compared with those in the male general population. CNVs were analyzed by array-based comparative genomic hybridization and characterized by fluorescence in situ hybridization. MAIN RESULTS AND THE ROLE OF CHANCE: Seven of 62 patients with anterior or posterior hypospadias carried putative pathogenic mutations, such as hemizygous mutations in AR, a heterozygous mutation in BNC2, and homozygous mutations in SRD5A2 and HSD3B2. Two of the seven patients had mutations in multiple genes. We did not find any rare polymorphisms that were abundant specifically in the patient group. One patient carried mosaic dicentric Y chromosome. LIMITATIONS, REASONS FOR CAUTION: The patient group consisted solely of Japanese and Vietnamese individuals and clinical and hormonal information of the patients remained rather fragmentary. In addition, mutation analysis focused on protein-altering substitutions. WIDER IMPLICATIONS OF THE FINDINGS: Our data provide evidence that pathogenic mutations can underlie both mild and severe hypospadias and that HSD3B2 mutations cause non-syndromic hypospadias as a sole clinical manifestation. Most importantly, this is the first report documenting possible oligogenicity of non-syndromic hypospadias. STUDY FUNDING/COMPETING INTERESTS: This study was funded by the Grant-in-Aid from the Ministry of Education, Culture, Sports, Science and Technology; by the Grant-in-Aid from the Japan Society for the Promotion of Science; by the Grants from the Ministry of Health, Labour and Welfare, from the National Center for Child Health and Development and from the Takeda Foundation. The authors have no competing interests to disclose. TRIAL REGISTRATION NUMBER: Not applicable.
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Hipospadias/genética , Variaciones en el Número de Copia de ADN , Análisis Mutacional de ADN , Predisposición Genética a la Enfermedad , Humanos , Masculino , Polimorfismo GenéticoRESUMEN
AIMS: The aim of this study was to assess whether surgical decompression of nerves in the lower extremity in people with painful diabetic polyneuropathy would have an effect on health-related quality of life and to determine minimal clinically important differences in pain and quality of life scores. METHODS: The design was a randomized controlled trial in which 42 participants with painful diabetic painful neuroapthy underwent unilateral decompression of nerves in their left or right leg, using the other leg as a control, with 12 months follow-up. Surgical decompression was performed at the tibial, superficial, deep and common peroneal nerves. Preoperatively, and at 6 and 12 months post operatively, a visual analogue scale for pain and the 36 item short-form health survey and EuroQual 5 Dimensions questionnaires were completed. RESULTS: At 12 months follow-up, the visual analogue scale was significantly reduced, but decompression surgery did not significantly alter health-related quality of life scores. The minimal clinically important difference for visual analogue scale reduction was determined at 2.9 points decrease, a threshold reached by 42.5% of the study population. CONCLUSIONS: Although decompression surgery does not influence health-related quality of life, it achieves a clinically relevant reduction of pain in ~42.5% of people with diabetic peripheral neuropathy. It can therefore be considered for patients who do not adequately respond to pain medication.
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Descompresión Quirúrgica , Neuropatías Diabéticas/cirugía , Extremidad Inferior/inervación , Extremidad Inferior/cirugía , Percepción del Dolor , Calidad de Vida , Adulto , Anciano , Descompresión Quirúrgica/psicología , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Dolor/etiología , Dolor/cirugía , Dimensión del Dolor , Percepción del Dolor/fisiologíaRESUMEN
OBJECTIVES: We investigated relation of preoperative renal scar to incidence of postoperative metabolic acidosis following ileocystoplasty in patients with neurogenic bladder. PATIENTS: Thirty patients with neurogenic bladder, who underwent ileocystoplasty, were enrolled in the present study. Median age at ileocystoplasty was 13.9 years and median follow-up period after ileocystoplasty was 8.2 years. Metabolic acidosis was defined based on the outlined criteria: base excess (BE) is less than 0 mmol l(-1). Preoperative examination revealed that no apparent renal insufficiency was identified in blood analysis, although preoperative (99m)Tc-DMSA scintigraphy indicated abnormalities such as renal scar in 14 patients (47%). Incidence of postoperative metabolic acidosis was compared between patients with and without preoperative renal scar, which may reflect some extent of renal tubular damage. RESULTS: Postoperative metabolic acidosis was identified in 13 patients (43%). Incidence of postoperative metabolic acidosis was significantly higher in patients with renal scar (11/14, 79%) compared with patients without renal scar (2/16, 13%; P<0.01). Particularly, all eight patients who had bilateral renal scars showed metabolic acidosis postoperatively. Compared with patients without preoperative renal scar, pH (P<0.05) and BE (P<0.01) were significantly lower postoperatively in patients with preoperative renal scar. However, there was no significant difference in PCO2. Hyperchloremia was observed in each patient with or without preoperative renal scar. CONCLUSION: Incidence of postoperative metabolic acidosis was significantly implicated in preoperative renal scar. If renal abnormalities are preoperatively identified in imaging tests, we need to care patients carefully regarding metabolic acidosis and subsequent comorbidities following ileocystoplasty.
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Acidosis/etiología , Cicatriz/etiología , Riñón/patología , Complicaciones Posoperatorias/etiología , Vejiga Urinaria Neurogénica/cirugía , Acidosis/sangre , Adolescente , Adulto , Niño , Preescolar , Cicatriz/diagnóstico por imagen , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Riñón/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Cuidados Preoperatorios , Cintigrafía , Radiofármacos , Estudios Retrospectivos , Factores de Riesgo , Ácido Dimercaptosuccínico de Tecnecio Tc 99m , Vejiga Urinaria Neurogénica/sangre , Vejiga Urinaria Neurogénica/diagnóstico por imagen , Procedimientos Quirúrgicos Urológicos/efectos adversos , Adulto JovenRESUMEN
OBJECTIVES: The purpose of this study in children with cleft palate only (CPO) is to (1) explore the prevalence of feeding problems on a retrospective basis, (2) investigate rates of nasogastric (NG) feeding, (3) examine the prevalence of associated disorders and/or syndromes (AssD/S), (4) investigate if there are certain risk factors associated with feeding difficulties, NG feeding, and failure of breastfeeding, and (5) investigate the effect of palatoplasty on feeding difficulties. MATERIALS AND METHODS: In total, 90 questionnaires were included in this study. The medical records were reviewed. RESULTS: Feeding difficulties were reported in 67% (n = 60) of all cases. NG feeding was given in 32% (n = 28) of all children. Forty-nine children (54%) have associated malformations. There is no significant relation for gender, gestational age, and birth weight as risk factors for feeding difficulties, NG feeding, and failure of breastfeeding. The severity of the cleft is significantly related to the prevalence of AssD/S. After palatoplasty, feeding difficulties improved in 79% of the CPO children. CONCLUSIONS AND CLINICAL RELEVANCE: First, our results clearly indicate that children with CPO are at high risk of developing feeding difficulties (67%); NG feeding is often necessary (32%). Second, our results also indicate that the more severe the cleft, the more likely the chance for AssD/S. Third, the severity of the cleft is significantly related to the prevalence of AssD/S. Fourth, there is no significant relation for gender, gestational age, and birth weight as risk factors for feeding difficulties, NG feeding, and failure of breastfeeding. Fifth, improvement of feeding difficulties after surgery supports the importance of the soft palate closure in relation to sucking patterns and feeding skills.
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Fisura del Paladar/fisiopatología , Ingestión de Alimentos , Niño , Femenino , Humanos , Masculino , Prevalencia , Estudios Retrospectivos , Factores de RiesgoRESUMEN
OBJECTIVES: The purpose of this study in children with cleft palate only (CPO) is to (1) explore the prevalence of feeding problems on a retrospective basis, (2) investigate rates of nasogastric (NG) feeding, (3) examine the prevalence of associated disorders and/or syndromes (AssD/S), (4) investigate if there are certain risk factors associated with feeding difficulties, NG feeding, and failure of breastfeeding, and (5)investigate the effect of palatoplasty on feeding difficulties. MATERIALS AND METHODS: In total, 90 questionnaires were included in this study. The medical records were reviewed. RESULTS: Feeding difficulties were reported in 67 % (n =60) of all cases. NG feeding was given in 32% (n =28) of all children. Forty-nine children (54 %) have associated malformations. There is no significant relation for gender, gestational age,and birth weight as risk factors for feeding difficulties, NG feeding, and failure of breastfeeding. The severity of the cleft is significantly related to the prevalence of AssD/S. After palatoplasty, feeding difficulties improved in 79 % of the CPO children. CONCLUSIONS AND CLINICAL RELEVANCE: First, our results clearly indicate that children with CPO are at high risk of developing feeding difficulties (67 %); NG feeding is often necessary (32 %). Second, our results also indicate that the more severe the cleft, the more likely the chance for AssD/S. Third, these verity of the cleft is significantly related to the prevalence of AssD/S. Fourth, there is no significant relation for gender, gestational age, and birth weight as risk factors for feeding difficulties, NG feeding, and failure of breastfeeding. Fifth, improvement of feeding difficulties after surgery supports the importance of the soft palate closure in relation to sucking patterns and feeding skills.
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Fisura del Paladar/fisiopatología , Ingestión de Alimentos , Humanos , Prevalencia , Estudios RetrospectivosRESUMEN
PURPOSE: In this study we prospectively investigated the contribution of restored penile sensation to sexual health in patients with low spinal lesions. MATERIALS AND METHODS: In 30 patients (18 with spina bifida, 12 with spinal cord injury, age range 13 to 55 years) with no penile sensation but good groin sensation the new TOMAX (TO MAX-imize sensation, sexuality and quality of life) procedure was performed. This involves microsurgical connection of the sensory ilioinguinal nerve to the dorsal nerve of the penis unilaterally. Extensive preoperative and postoperative neurological and psychological evaluations were made. RESULTS: A total of 24 patients (80%) gained unilateral glans penis sensation. This was initially felt as groin sensation but transformed into real glans sensation in 11 patients (33%). These patients had better overall sexual function (p = 0.022) and increased satisfaction (p = 0.004). Although 13 patients (43%) maintained groin sensation, their satisfaction with sexuality was only slightly less than that of those with glans sensation. Improved sensations helped them manage urinary incontinence, thereby improving personal hygiene and independence. Most patients felt more complete and less handicapped with their penis now part of their body image. They also reported having more open and meaningful sexual relationships with their partners. CONCLUSIONS: Tactile and erogenous sensitivity was restored in the glans penis in patients with a low spinal lesion. This new sensation enhanced the quality of sexual functioning and satisfaction. The TOMAX procedure should become standard treatment for such patients.
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Hipoestesia/etiología , Hipoestesia/cirugía , Satisfacción del Paciente , Pene/inervación , Pene/cirugía , Calidad de Vida , Salud Reproductiva , Sensación , Traumatismos de la Médula Espinal/complicaciones , Disrafia Espinal/complicaciones , Adolescente , Adulto , Humanos , Masculino , Microcirugia , Persona de Mediana Edad , Pene/fisiología , Estudios Prospectivos , Procedimientos Quirúrgicos Urológicos Masculinos/métodos , Adulto JovenRESUMEN
BACKGROUND: Autologous lipoaspirate grafting (ALAG) has become a widely used treatment in breast reconstruction after mastectomy (MST) or breast-conserving treatment (BCT), although there is an ongoing debate about its oncological safety. The aim of this systematic review was to identify, evaluate, and synthesize all clinical evidence examining the oncological risks associated with the procedure. METHODS: An extensive electronic search was performed in PubMed, Embase, and the Cochrane Library using the keywords "breast" and "autologous lipoaspirate grafting" and synonyms. RESULTS: The search yielded a total of 269 unique hits. Twenty clinical trials investigated ALAG in breast reconstruction after cancer. Although nine of them provided oncological follow-up data, only one retrospective cohort and four case series were suitable for analysis. The former reported no significant differences in the locoregional recurrence (LRR) incidence rates between the intervention and control groups for patients with MST as well as BCT. A large multicenter case series reported LRR incidence rates of 1.35 and 2.19 for MST and BCT patients, respectively. The remaining two series were far smaller trials with shorter follow-up and reported no recurrences. No randomized, controlled trials were identified. Most of the available studies consisted of cohorts and case series with short follow-up and no control subjects. CONCLUSIONS: Although the first reports on cancer recurrence after ALAG are inconclusive, they show promising results. Whether lipoaspirate grafting promotes LRR in breast cancer patients is still unclear. To be able to answer this question, larger prospective trials with longer follow-up are needed.
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Tejido Adiposo/trasplante , Neoplasias de la Mama/cirugía , Mamoplastia/efectos adversos , Mamoplastia/métodos , Recurrencia Local de Neoplasia/etiología , Femenino , Humanos , MastectomíaRESUMEN
PURPOSE: To identify the mediator profile in healthy, pre-osteoarthritis (OA) and end-stage OA radiocarpal joints. We hypothesized that there would be an increase in soluble mediators in posttraumatic wrist OA. METHODS: We obtained radiocarpal synovial fluid samples from 3 groups of patients: healthy control (n = 12) samples were collected during wrist ganglion resection; pre-osteoarthritic (n = 16) samples, during a 3-ligament tenodesis procedure for complete scapholunate dissociation; and end-stage OA (n = 20) samples in patients with proven radiological OA changes. Using a multiplex enzyme-linked immunosorbent assay, we measured 12 mediators: interleukin (IL)-1ß, tumor necrosis factor-α, oncostatin-M, interferon-γ, IL-4, IL-6, IL-7, IL-8, IL-10, IL-13, IL-1RA, and osteoprotegerin. Statistical analysis was performed using analysis of variance and Bonferroni-corrected post hoc tests. RESULTS: Mediators IL-6, IL-10, and interferon-γ were increased in OA wrists compared to healthy and pre-OA samples. Tumor necrosis factor-α, oncostatin-M, osteoprotegerin, IL-8, and IL-1RA were detected but not at increased levels in OA wrists. We found no differences between healthy and pre-OA joints in all 12 mediators. Mediators IL-4, IL-7, IL-13, and IL-1ß were not detected in either healthy, pre-OA or end-stage OA samples. CONCLUSIONS: We identified no differences between healthy and pre-OA samples, suggesting no alteration in inflammatory status at the time of the 3-ligament tenodesis procedure. Consequently, mechanical disturbance seems to be the driving force toward OA and OA-associated inflammation in this stage of scapholunate dissociation. Increased levels of interferon-γ, IL-6, and IL-10 confirm inflammatory changes in the mechanically disturbed posttraumatic radiocarpal joint.
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Mediadores de Inflamación/metabolismo , Interleucinas/metabolismo , Osteoartritis/metabolismo , Líquido Sinovial/metabolismo , Articulación de la Muñeca , Ensayo de Inmunoadsorción Enzimática , Humanos , Interleucina-1beta/metabolismo , Factor de Necrosis Tumoral alfa/metabolismoRESUMEN
BACKGROUND: Preoperative CT-angiography (CTA) has shown to reduce operative time in deep inferior epigastric perforator (DIEP) flap breast reconstruction compared to Doppler ultrasonography (US). Although decreased flap loss has been suggested, statistical significant reduction remains indeterminate. The purpose of this review is to evaluate flap loss after preoperative CTA and Doppler US in DIEP-flap breast reconstruction. METHODS: A systematic literature search was performed in MEDLINE, EMBASE, and Cochrane libraries. All articles comparing CTA to Doppler US were selected and critically appraised; data on flap loss were extracted. RESULTS: From 678 studies, eight were selected for appraisal. Six case-control studies were included in the final analysis. Pooled analysis showed CTA resulted in a significant reduction in partial necrosis (odds ratio/OR 0.15; 95% confidence interval/CI 0.07-0.32, P < 0.0001) and decreased flap loss (OR 0.28; 95% CI 0.10-0.79, P = 0.02). CONCLUSIONS: Studies included in this meta-analysis have several limitations. However, most studies find a large clinical advantage of CTA over Doppler US, which reaches statistical significance when combined. As results show that CTA prior to DIEP flap breast reconstruction offers significant clinical benefits, we suggest the routine use of preoperative CTA.
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Angiografía/métodos , Mamoplastia/métodos , Colgajo Perforante/irrigación sanguínea , Tomografía Computarizada por Rayos X , Humanos , Necrosis , Colgajo Perforante/patología , Periodo Preoperatorio , Resultado del Tratamiento , Ultrasonografía Doppler , Ultrasonografía MamariaRESUMEN
OBJECTIVE: To describe the effect of time after velopharyngoplasty on outcome and to search for preoperative prognostic factors for residual hypernasality in patients with 22q11.2 deletion syndrome. DESIGN: Retrospective chart review. SETTING: Tertiary hospital. PATIENTS: Patients with 22q11.2 deletion syndrome and velopharyngeal dysfunction who underwent a primary (modified) Honig velopharyngoplasty between 1989 and 2009. MAIN OUTCOME MEASURES: Clinically obtained perceptual and instrumental measurements of resonance, nasalance, and understandability before and after velopharyngoplasty. RESULTS: Data were available for 44 of 54 patients (81% follow-up), with a mean follow-up time of 7.0 years (range, 1.0 to 19.4 years). During follow-up, 24 (55%) patients attained normal resonance and 20 (45%) had residual hypernasality or underwent revision surgery. Mean postoperative nasalance and understandability scores were closer to the norm than mean preoperative scores were (2.0 versus 5.5 standard deviations for the normal passage, 1.3 versus 8.1 standard deviations for the nonnasal passage, and score 2.3 versus 4.1 understandability). Serial measurements revealed that hypernasality only resolved an average of 5 years after surgery, and three patients whose resonance initially normalized later relapsed to hypernasality. Gender, age at surgery, lateral pharyngeal wall adduction, velar elevation, presence of a palatal defect, previous intravelar veloplasty, nasalance, understandability, adenoidectomy, hearing loss, and IQ were not able to predict poor outcome following primary velopharyngoplasty (all p > .05). CONCLUSIONS: In this chart review of patients with 22q11.2 deletion syndrome and velopharyngeal dysfunction, residual hypernasality persisted in many patients after velopharyngoplasty. None of the preoperative factors that were studied had prognostic value for the outcome.
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Cromosomas Humanos Par 22/genética , Trastornos del Habla/fisiopatología , Insuficiencia Velofaríngea/genética , Insuficiencia Velofaríngea/fisiopatología , Adolescente , Niño , Preescolar , Femenino , Eliminación de Gen , Humanos , Estudios Longitudinales , Masculino , Pronóstico , Estudios Retrospectivos , Síndrome , Resultado del Tratamiento , Insuficiencia Velofaríngea/cirugíaAsunto(s)
Hemofilia A/diagnóstico , Peritonitis/complicaciones , Acinetobacter/aislamiento & purificación , Acinetobacter/patogenicidad , Anciano de 80 o más Años , Infecciones Bacterianas/complicaciones , Infecciones Bacterianas/microbiología , Pruebas de Coagulación Sanguínea , Coagulantes/uso terapéutico , Enterobacter/aislamiento & purificación , Enterobacter/patogenicidad , Factor VIIa/uso terapéutico , Gastrectomía , Hemofilia A/tratamiento farmacológico , Hemofilia A/etiología , Hemorragia/prevención & control , Humanos , Masculino , Peritonitis/microbiología , Recuento de Plaquetas , Proteínas Recombinantes/uso terapéutico , Neoplasias Gástricas/cirugíaRESUMEN
OBJECTIVES: To evaluate the sensitivity and specificity of ultrasound for detecting prenatal facial clefts in low-risk and high-risk populations. METHODS: This study prospectively followed up a non-selected population, namely all pregnant women who underwent routine second-trimester prenatal ultrasound screening in the Utrecht region during the 2-year period from January 2007 to December 2008. RESULTS: A total of 35 924 low-risk and 2836 high-risk pregnant women underwent ultrasound screening. Orofacial clefts were present in 62 cases, an incidence of 1:624. The distribution of clefts was as follows: 18 (29%) cleft lip, 25 (40%) cleft lip with cleft palate, 17 (27%) cleft palate only, one median cleft and one atypical cleft. Of these, 38 (61%) were unilateral and 23 (37%) were bilateral. Thirty-nine per cent (24/62) had associated anomalies, with most chromosomal defects found in the cleft lip with cleft palate and cleft palate only groups. Cleft lip with or without cleft palate was detected prenatally in 38/43 cases, a sensitivity of 88%. No case of cleft palate only was detected prenatally. There were three false-positive cases, of which two were fetuses with multiple congenital deformities. CONCLUSIONS: Ultrasound screening has a high sensitivity for the detection of cleft lip with and without cleft palate in high-risk and low-risk pregnancies in our region, where well-trained sonographers carry out primary screening. The key to a high sensitivity of prenatal ultrasound is likely to be a combination of excellent training of sonographers, referral to specialized centers when a cleft is suspected, routine visualization of the fetal face and advances in ultrasound techniques.
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Labio Leporino/diagnóstico por imagen , Fisura del Paladar/diagnóstico por imagen , Cara/diagnóstico por imagen , Ultrasonografía Prenatal , Labio Leporino/embriología , Labio Leporino/epidemiología , Fisura del Paladar/embriología , Fisura del Paladar/epidemiología , Cara/anomalías , Cara/embriología , Femenino , Estudios de Seguimiento , Humanos , Recién Nacido , Masculino , Países Bajos/epidemiología , Valor Predictivo de las Pruebas , Embarazo , Resultado del Embarazo , Diagnóstico Prenatal , Estudios Prospectivos , Medición de Riesgo , Sensibilidad y EspecificidadRESUMEN
Bioengineering of the human auricle remains a significant challenge, where the complex and unique shape, the generation of high-quality neocartilage, and shape preservation are key factors. Future regenerative medicine-based approaches for auricular cartilage reconstruction will benefit from a smart combination of various strategies. Our approach to fabrication of an ear-shaped construct uses hybrid bioprinting techniques, a recently identified progenitor cell population, previously validated biomaterials, and a smart scaffold design. Specifically, we generated a 3D-printed polycaprolactone (PCL) scaffold via fused deposition modeling, photocrosslinked a human auricular cartilage progenitor cell-laden gelatin methacryloyl (gelMA) hydrogel within the scaffold, and cultured the bioengineered structure in vitro in chondrogenic media for 30 days. Our results show that the fabrication process maintains the viability and chondrogenic phenotype of the cells, that the compressive properties of the combined PCL and gelMA hybrid auricular constructs are similar to native auricular cartilage, and that biofabricated hybrid auricular structures exhibit excellent shape fidelity compared with the 3D digital model along with deposition of cartilage-like matrix in both peripheral and central areas of the auricular structure. Our strategy affords an anatomically enhanced auricular structure with appropriate mechanical properties, ensures adequate preservation of the auricular shape during a dynamic in vitro culture period, and enables chondrogenically potent progenitor cells to produce abundant cartilage-like matrix throughout the auricular construct. The combination of smart scaffold design with 3D bioprinting and cartilage progenitor cells holds promise for the development of clinically translatable regenerative medicine strategies for auricular reconstruction.
RESUMEN
OBJECTIVES: To systematically review the diagnostic accuracy of second-trimester transabdominal ultrasound in detecting orofacial clefts in low- and high-risk populations and to compare two-dimensional (2D) with three-dimensional (3D) ultrasound techniques. METHODS: MEDLINE and EMBASE were searched for articles published in English, Dutch, French or German using the keywords 'cleft' and 'ultrasound' or 'screening' or 'sonogram' and 'prenatal' or 'antenatal' or 'fetus' to identify cohort studies and randomized trials in order to assess the detection rate by prenatal ultrasound of cleft lip and palate in high-risk and low-risk pregnant women. RESULTS: Of 451 citations identified, 27 met the criteria for the systematic review, 21 involving unselected low-risk populations and six involving high-risk populations. In the selected studies there was diversity in the gestational age at which the ultrasound examination was performed and there was considerable variety in the diagnostic accuracy of 2D ultrasound in the low-risk women, with prenatal detection rates ranging from 9% to 100% for cleft lip with or without cleft palate, 0% to 22% for cleft palate only and 0% to 73% for all types of cleft. 3D ultrasound in high-risk women resulted in a detection rate of 100% for cleft lip, 86% to 90% for cleft lip with palate and 0% to 89% for cleft palate only. CONCLUSIONS: 2D ultrasound screening for cleft lip and palate in a low-risk population has a relatively low detection rate but is associated with few false-positive results. 3D ultrasound can achieve a reliable diagnosis, but not of cleft palate only.
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Labio Leporino/diagnóstico por imagen , Fisura del Paladar/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Labio Leporino/embriología , Fisura del Paladar/embriología , Femenino , Edad Gestacional , Humanos , EmbarazoRESUMEN
INTRODUCTION: Cold hypoxia is a common factor in cold tissue preservation and mammalian hibernation. The purpose of this study was to determine the effects of cold preservation on the function of the retractor (RET) muscle of the hamster in the non-hibernating state and compare these with previously published data (van der Heijden et al., 2000) on the rat cutaneus trunci (CT) muscle. MATERIALS AND METHODS: After cold storage (16 h at 4 degrees C), muscles were stimulated electrically to measure maximum tetanus tension (P(0)) and histologically analyzed. The protective effects of addition of the antioxidants trolox and deferiprone and the calcium release inhibitor BDM to the storage fluid were determined. RESULTS: After storage, the twitch threshold current was increased (from 60 to 500 microA) and P(0) was decreased to 27% of control. RET morphology remained unaffected. RET muscle function was protected by trolox and deferiprone (P(0), resp., 43% and 59% of control). Addition of BDM had no effect on the RET. CONCLUSIONS: The observed effects of cold preservation and of trolox and deferiprone on the RET were comparable to those on CT muscle function, as reported in a previously published study (van der Heijden et al., 2000). Both hamster RET and rat CT muscles show considerable functional damage due to actions of reactive oxygen species. In contrast to the CT, in the RET cold preservation-induced functional injury could not be prevented by BDM and was not accompanied by morphological damage such as necrosis and edema. This suggests that the RET myocytes possess a specific adaptation to withstand the Ca(2+) overload induced by cold ischemia.
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Frío , Contracción Muscular , Músculo Esquelético/fisiología , Preservación de Órganos , Animales , Cromanos/farmacología , Cricetinae , Deferiprona , Masculino , Mesocricetus , Contracción Muscular/efectos de los fármacos , Músculo Esquelético/anatomía & histología , Soluciones Preservantes de Órganos/farmacología , Piridonas/farmacología , RatasRESUMEN
BACKGROUND: The hamster retractor muscle (RET) is used as an in vivo model in studies of skeletal muscle ischemia-reperfusion injury. The RET is unique in that the muscle can be isolated while preserving the primary vascular supply so that its contractile function can be measured simultaneously with local microvascular responses to experimental interventions. The goal of this study was to understand the anatomical origin of the vascular supply to the RET and determine whether the RET can be used as a free flap after surgical isolation of the thoracodorsal vessels. METHODS: Microdissection was performed to determine the anatomy of the vasculature that supplies and drains the RET. RESULTS: Distinct numbers and patterns of feed arteries (2-4) and collecting veins (1-3) were identified (n = 26 animals). Dye injection (n = 8) of the thoracodorsal artery demonstrated that the RET remains perfused following its isolation on the thoracodorsal pedicle. Heterotopic allograft transplantation of the RET (n = 2) was performed by anastomosing the thoracodorsal vessels to the femoral vessels using the end-to-side technique. CONCLUSIONS: The anatomical relationships indicate that the RET can be used as a free flap model for evaluating the effect of preservation strategies and transplantation on skeletal muscle microcirculation and contractile function.