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Sample records for pectus excavatum tratamiento

  1. Pectus excavatum repair - slideshow

    MedlinePlus

    ... Go to slide 4 out of 4 Normal anatomy Overview Pectus excavatum is a deformity of the ... M. is among the first to achieve this important distinction for online health information and services. Learn ...

  2. Pectus excavatum: history, hypotheses and treatment options

    PubMed Central

    Brochhausen, Christoph; Turial, Salmai; Müller, Felix K.P.; Schmitt, Volker H.; Coerdt, Wiltrud; Wihlm, Jean-Marie; Schier, Felix; Kirkpatrick, C. James

    2012-01-01

    Pectus excavatum and pectus carinatum represent the most frequent chest wall deformations. However, the pathogenesis is still poorly understood and research results remain inconsistent. To focus on the recent state of knowledge, we summarize and critically discuss the pathological concepts based on the history of these entities, beginning with the first description in the sixteenth century. Based on the early clinical descriptions, we review and discuss the different pathogenetic hypotheses. To open new perspectives for the potential pathomechanisms, the embryonic and foetal development of the ribs and the sternum is highlighted following the understanding that the origin of these deformities is given by the disruption in the maturation of the parasternal region. In the second, different therapeutical techniques are highlighted and based on the pathogenetic hypotheses and the embryological knowledge potential new biomaterial-based perspectives with interesting insights for tissue engineering-based treatment options are presented. PMID:22394989

  3. Thoracic outlet syndrome after corrective surgery for pectus excavatum.

    PubMed

    Donders, H P; Geelen, J A

    1988-02-01

    Two patients are described who developed a thoracic outlet syndrome (TOS) after undergoing Ravitch's operation for the correction of pectus excavatum. In one case the syndrome developed a few days after surgery, whereas in the second patient it manifested more gradually. A third patient presented with latent TOS and pectus excavatum. It is recommended that prior to the correction of pectus excavatum, the patient should be examined to detect signs of neurovascular compression due to latent thoracic outlet syndrome. After surgery the possibility of this complication should be kept in mind to avoid permanent lesions of the cervicobrachial plexus. PMID:3352940

  4. Is breast asymmetry caused by volume differences in women with pectus excavatum?

    PubMed

    Rha, Eun Young; Kim, Ji-Min; Yoo, Gyeol; Jeong, Jin Yong; Hwang, Duck Ki; Kim, Ki Jun

    2016-04-01

    This study determined the breast volumes of female patients with pectus excavatum that led to asymmetry and hypoplasia compared with normal women. This retrospective study enrolled 13 patients diagnosed with pectus excavatum and 13 normal women, randomly selected from a healthcare centre (n = 26), between January 2012 and December 2014. We measured breast volumes (n = 52) based on chest computed tomography (CT) of all patients using Image J software and divided them into four groups according to the side and presence of pectus excavatum. The mean volumes of the right and left breasts of patients with pectus excavatum were 209 ± 64 mL and 218 ± 67 mL, respectively, with no significant difference between the two groups (P = 0.736). The mean volumes of the right and left breasts of normal women were 415 ± 197 mL and 439 ± 197 mL, respectively, with no significant difference between the two groups (P = 0.754). The breasts of patients with pectus excavatum were significantly smaller than those of normal women (P < 0.001). Both breasts of patients with pectus excavatum were similar in size but were smaller than the breasts of normal women. Skeletal correction for breast asymmetry correction, followed by breast augmentation for breast hypoplasty correction, with a one- or two-step approach may be useful to improve the aesthetics of breast deformities in women with pectus excavatum. PMID:26776347

  5. Management of severe asymmetric pectus excavatum complicating aortic repair in a patient with Marfan's syndrome.

    PubMed

    Yeung, Jonathan C; Marcuzzi, Danny; Peterson, Mark D; Ko, Michael A

    2016-05-01

    We describe the case of a 28-year old man with Marfan's syndrome and severe pectus excavatum who required an aortic root replacement for an ascending aortic aneurysm. There was a near-vertical angulation of the sternum that presented challenges with opening and exposure of the heart during aortic surgery. Furthermore, removal of the sternal retractor after aortic repair resulted in sudden loss of cardiac output. A Ravitch procedure was then performed to successfully close the chest without further cardiovascular compromise. We propose that patients with a severe pectus excavatum and mediastinal displacement seen on preoperative CT scanning should be considered for simultaneous, elective repair. PMID:26874148

  6. CASE REPORT A Double Thoracodorsal Artery Perforator Flap Technique for the Treatment of Pectus Excavatum

    PubMed Central

    Sinna, Raphaël; Perignon, David; Qassemyar, Quentin; Benhaim, Thomas; Dodreanu, Codrin N.; Berna, Pascal; Delay, Emmanuel

    2010-01-01

    Background: Pectus excavatum is a common congenital deformity involving the anterior thoracic wall. It can be treated with several surgical approaches. Material and methods: To our best of knowledge, this is the first case of pectus excavatum repair via a 2-stage double thoracodorsal artery perforator flap procedure in a 37-year-old patient. Results: We obtained a satisfactory result in which the missing volume was correctly replaced in the absence of dorsal sequelae. The patient was very satisfied despite the dorsal scars. Conclusion: This new approach broadens the surgeon's options for the correction of thoracic deformities. PMID:20458352

  7. Pectus Excavatum and Pectus Carinatum: Associated Conditions, Family History, and Postoperative Patient Satisfaction

    PubMed Central

    Kuru, Pinar; Cakiroglu, Aylin; Er, Aynur; Ozbakir, Hincal; Cinel, Ali Emin; Cangut, Busra; Iris, Merve; Canbaz, Berkay; Pıçak, Ebru; Yuksel, Mustafa

    2016-01-01

    Background Pectus excavatum (PE) and pectus carinatum (PC) are the most common chest wall deformities. In this study, we aimed to characterize how patients obtained information about these deformities, as well as patients’ family history, associated medical problems, and postoperative satisfaction after the Nuss and Abramson procedures. Methods This cross-sectional retrospective study included patients who were operated by a single surgeon between 2006 and 2013. Follow-up calls were made after approval of our institution’s ethics committee. We reached 207 of the 336 PE patients (61.6%) and 73 of the 96 PC patients (76%). Results The majority of the patients were male (85% of the PE patients and 91.8% of the PC patients). The age of diagnosis of PE was 14.52±0.51 years and the age at the time of operation was 17.89±0.42 years; for PC patients, the corresponding ages were 15.23±0.55 years and 16.77±0.55 years, respectively. A total of 70% of the PE patients and 63.8% of the PC patients obtained information about pectus deformities through the Internet. In 27.1% of the PE patients with an associated anomaly, 57.1% (n=13) had scoliosis, while 41.1% of the PC patients with an associated anomaly had kyphosis (n=5). Postoperative satisfaction, as evaluated on a scale from 0 to 10, was 8.17±0.15 for PE patients and 8.37±0.26 for PC patients. The postoperative pain duration was 51.93±5.18 days for PE patients and 38.5±6.88 days for PC patients. Conclusion In this study, we found that most patients with pectus deformities were male. The Internet was an important resource for patients to learn about their deformities. Family history and associated anomalies were identified as important aspects for consideration in the clinical setting. The patients reported high levels of postoperative satisfaction, and pain management was found to be one of the most important elements of postoperative care. PMID:26889443

  8. Nuss technique in pectus excavatum: a mono-institutional experience

    PubMed Central

    2015-01-01

    Background Pectus excavatum (PE) is the most common anomaly of the anterior chest wall. Prior PE was corrected by a modified Ravitch operation, but since Nuss published his minimal technique in 1998, most surgeons have preferred this technique. Methods Since 2001 the modified Nuss procedure has routinely been used for correction of more than 1,500 patients at Aarhus University Hospital. In the time period between January 1, 2011 and January 31, 2015, 675 patients have been corrected. The median age was 16 years (range, 11-58 years). All patients had preoperatively an epidural catheter and the operations were done in general anaesthesia. The postoperative pain treatment was planned for 4-5 weeks and the patients were routinely seen in the outpatient clinic 6 weeks after surgery and the bars removed after 3 years. Results Four hundred-and-fifty patients had one bar, 216 patients with two bars and nine patients with three bars inserted. The median length of the bar was 10 inch. The median duration of the operation was 29 minutes. The median postoperative stay was 3 days. No death, cardiac perforation or deep infection occurred and only 5% of the patients experienced a complication. Conclusions The Nuss procedure should still be considered in the treatment of PE. To my opinion, it should be the choice for correction of PE. The short bar should be used to achieve the best stability of the system, to obtain a good cosmetic result, a reduced dysfunction motion of the chest wall and an increased cardiac performance. PMID:25984364

  9. Fatal reexpansion pulmonary edema in a kitten following surgical correction of pectus excavatum.

    PubMed

    Soderstrom, M J; Gilson, S D; Gulbas, N

    1995-01-01

    Fulminant, fatal pulmonary edema developed in an eight-week-old kitten following external splint correction of severe pectus excavatum. History, signalment, onset of clinical signs, and gross pathological findings were most compatible with a diagnosis of reexpansion pulmonary edema (RPE). This report presents case findings and a literature review of RPE. PMID:7773758

  10. Virtual simulation of the postsurgical cosmetic outcome in patients with Pectus Excavatum

    NASA Astrophysics Data System (ADS)

    Vilaça, João L.; Moreira, António H. J.; L-Rodrigues, Pedro; Rodrigues, Nuno; Fonseca, Jaime C.; Pinho, A. C. M.; Correia-Pinto, Jorge

    2011-03-01

    Pectus excavatum is the most common congenital deformity of the anterior chest wall, in which several ribs and the sternum grow abnormally. Nowadays, the surgical correction is carried out in children and adults through Nuss technic. This technic has been shown to be safe with major drivers as cosmesis and the prevention of psychological problems and social stress. Nowadays, no application is known to predict the cosmetic outcome of the pectus excavatum surgical correction. Such tool could be used to help the surgeon and the patient in the moment of deciding the need for surgery correction. This work is a first step to predict postsurgical outcome in pectus excavatum surgery correction. Facing this goal, it was firstly determined a point cloud of the skin surface along the thoracic wall using Computed Tomography (before surgical correction) and the Polhemus FastSCAN (after the surgical correction). Then, a surface mesh was reconstructed from the two point clouds using a Radial Basis Function algorithm for further affine registration between the meshes. After registration, one studied the surgical correction influence area (SCIA) of the thoracic wall. This SCIA was used to train, test and validate artificial neural networks in order to predict the surgical outcome of pectus excavatum correction and to determine the degree of convergence of SCIA in different patients. Often, ANN did not converge to a satisfactory solution (each patient had its own deformity characteristics), thus invalidating the creation of a mathematical model capable of estimating, with satisfactory results, the postsurgical outcome.

  11. Advancing our understanding of the inheritance and transmission of pectus excavatum

    PubMed Central

    Horth, Lisa; Stacey, Michael W.; Proud, Virginia K.; Segna, Kara; Rutherford, Chelsea; Nuss, Donald; Kelly, Robert E.

    2012-01-01

    Pectus excavatum is the most common congenital chest wall abnormality expressed in children, yet its inheritance is poorly understood. Here we present the first comprehensive assessment of the inheritance of this disorder. After evaluating 48 pedigrees and 56 clinical traits of probands and family members, we find strong evidence of autosomal recessive, genetic control for this disorder. Additionally there is likely more than one pectus disease-associated allele, as well as a relatively large number of disease allele carriers in the human population. Some clinical traits appear important and may serve as reliable indicators for predicting the likelihood of pectus excavatum in children before severe symptoms present. Quantifying sex-ratio bias in probands demonstrates a highly significant male bias associated with pectus excavatum. When combined with pedigree data, sex-bias is indicative of sex-linked, sex-limited, and/or epigenetic control such as X-inactivation, reiterating a point made with pedigrees alone, which is that more than one mutation is likely responsible for this disorder.

  12. Pectus excavatum in relief from Ancient Egypt (dating back to circa 2400 BC).

    PubMed

    Bialas, Adam J; Kaczmarski, Jacek; Kozak, Jozef; Kempinska-Miroslawska, Bogumila

    2015-04-01

    Pectus excavatum is one of the most common congenital deformities of the chest wall. The aim of the study was to analyse 621 artefacts (reliefs, sculptures, paintings) from Ancient Egypt in terms of anatomical defects of the chest. The team which analysed artefacts consisted of historians of medicine and thoracic surgeons. The researchers found a relief, depicting a man with an abnormal shape of the chest. The relief was from Niankhkhnum and Khnumhotep mastaba and dates back to circa 2400 BC. The authors think it is possible that the relief may represent a pectus excavatum deformity and believe the image will open up debate on the occurrence of this deformity in ancient times. PMID:25564580

  13. Variation of the Anthropometric Index for pectus excavatum relative to age, race, and sex

    PubMed Central

    Rebeis, Eduardo Baldassari; de Campos, Jose Ribas Milanez; Moreira, Luis Felipe Pinho; Pastorino, Antonio Carlos; Pêgo-Fernandes, Paulo Manuel; Jatene, Fabio Biscegli

    2013-01-01

    OBJECTIVES: To determine possible variations in the Anthropometric Index for pectus excavatum relative to age, race, and sex in individuals free of thoracic wall deformities. METHODS: Between 2002 and 2012, 166 individuals with morphologically normal thoracic walls consented to have their chests and the perimeter of the lower third of the thorax measured according to the Anthropometric Index for pectus excavatum. The participant characteristics are presented (114 men and 52 women; 118 Caucasians and 48 people of African descent). RESULTS: Measurements of the Anthropometric Index for pectus excavatum were statistically significantly different between men and women (11–40 years old); however, no significant difference was found between Caucasians and people of African descent. For men, the index measurements were not significantly different across all of the age groups. For women, the index measurements were significantly lower for individuals aged 3 to 10 years old than for individuals aged 11 to 20 years old and 21 to 40 years old; however, no such difference was observed between women aged 11 to 20 years old and those aged 21 to 40 years old. CONCLUSION: In the sample, significant differences were observed between women aged 11 to 40 years old and the other age groups; however, there was no difference between Caucasian and people of African descent. PMID:24141837

  14. Simultaneous aortic valve replacement and pectus excavatum correction in a 76-year-old man.

    PubMed

    Suzuki, Shigemitsu; Kiyokawa, Kensuke; Nakamura, Katsuhiko; Kashikie, Hideyuki; Akaiwa, Keiichi; Watanabe, Koichi; Hara, Shigeru

    2014-01-01

    A 76-year-old man was admitted to our department to undergo surgical treatment for aortic valve regurgitation. On physical examination, a bowl-shaped concavity was noted. Chest computed tomography revealed left-sided heart displacement by severe pectus excavatum with a Haller index of 6.40. Considering the postoperative cardiopulmonary complications that may result from mechanical compression due to uncorrected sternal deformities, we decided to perform a simultaneous aortic valve replacement and pectus excavatum correction. The operation time was long (570 min) and involved a high-volume transfusion due to excessive bleeding caused by resection of the deformed costal cartilages and sternal osteotomy under the use of heparin. The endotracheal tube was removed on the fifth postoperative day, but reintubation was required because of hypercapnea and difficulty in sputum discharge. With the aid of tube feeding for nutritional management, his cardiopulmonary function gradually ameliorated and his general condition improved. Consequently, he was weaned from mechanical ventilation on the 14th postoperative day. The patient is doing well 1 year after surgery. We report on the surgical management for pectus excavatum in adult patients. PMID:24088909

  15. Pulmonary scintigraphic findings in children with pectus excavatum by the comparison of chest radiograph indices.

    PubMed

    Kao, C H; Liao, S Q; Wang, S J; Yeh, S H

    1992-11-01

    Pulmonary scintigraphy, including Xe-133 ventilation combined with Tc-99m MAA perfusion scans, was performed in 23 children (3 girls, 20 boys, ages: 2-9 years) with pectus excavatum, and the indices from lateral chest radiography were used for comparison. The findings of pulmonary scintigraphy were analyzed as 1) ventilation fractions (VF), and 2) perfusion fractions (PF) between bilateral lungs; and 3) ventilation-perfusion ratios (V/Q ratio) of both lungs. The results showed that 6 of 23 cases had impaired VF, 11 of 23 cases had impaired PF, and 7 of 23 cases had an impaired V/Q ratio in the right and left lung, respectively. The severity of sternal depression in pectus excavatum was shown as certain indices that were obtained on routine lateral chest radiographs. However, no significant correlations existed between the differences in the fractions and the indices. Our results suggest that pulmonary scintigraphy is not necessary for children with pectus excavatum to predict the severity of sternal depression and pulmonary function, because 1) pulmonary scintigraphy is very difficult to perform in children; 2) unnecessary radiation exposure should be avoided; and 3) it is not well correlated with the severity of the depressed sternum. PMID:1424376

  16. Artificial neural networks for automatic modelling of the pectus excavatum corrective prosthesis

    NASA Astrophysics Data System (ADS)

    Rodrigues, Pedro L.; Moreira, António H. J.; Rodrigues, Nuno F.; Pinho, ACM; Fonseca, Jaime C.; Correia-Pinto, Jorge; Vilaça, João. L.

    2014-03-01

    Pectus excavatum is the most common deformity of the thorax and usually comprises Computed Tomography (CT) examination for pre-operative diagnosis. Aiming at the elimination of the high amounts of CT radiation exposure, this work presents a new methodology for the replacement of CT by a laser scanner (radiation-free) in the treatment of pectus excavatum using personally modeled prosthesis. The complete elimination of CT involves the determination of ribs external outline, at the maximum sternum depression point for prosthesis placement, based on chest wall skin surface information, acquired by a laser scanner. The developed solution resorts to artificial neural networks trained with data vectors from 165 patients. Scaled Conjugate Gradient, Levenberg-Marquardt, Resilient Back propagation and One Step Secant gradient learning algorithms were used. The training procedure was performed using the soft tissue thicknesses, determined using image processing techniques that automatically segment the skin and rib cage. The developed solution was then used to determine the ribs outline in data from 20 patient scanners. Tests revealed that ribs position can be estimated with an average error of about 6.82+/-5.7 mm for the left and right side of the patient. Such an error range is well below current prosthesis manual modeling (11.7+/-4.01 mm) even without CT imagiology, indicating a considerable step forward towards CT replacement by a 3D scanner for prosthesis personalization.

  17. Pectus excavatum; a clinical study with long term postoperavtive follow-up.

    PubMed

    Gyllenswärd, A; Irnell, L; Michaëlsson, M; Qvist, O; Sahlstedt, B

    1975-01-01

    There are divergent views about the harm that pectus excavatum and related chest deformities does to the respiratory and heart function. The indications for surgery and the optimal age for surgical intervention are debatable. In this study 37 operated and 38 nonoperated cases of about the same severity have been followed for more than ten years and examined after the age of 18 years. The examination included socio-economic, cosmetic and cardio-pulmonary function aspects. It could be shown that from the psychological aspect there were no significant differences between the operated and the non-operated cases. The tendency to contract bronchopneumonia is not influenced by operation. The physical working capacity was the same in the two groups. The operated cases have slightly lower pulmonary function values that the non-operated in spite of the fact that the non-operated group at the time of follow-up included the more seveee cases. Age at operation did not seem to be of any importance for the long-term results. The lower pulmonary function capacity in the operated cases is thought to be attributed to a restriction secondary to the operation. There are also indications that pectus excavatum tends to become less pronounced with increasing age. The study supports a restrictive attitude towards surgery. PMID:1058627

  18. The use of soft silicone solid implant molded intraoperatively for pectus excavatum surgical repair

    PubMed Central

    Anger, Jaime; Alcalde, Raphael Francisco Vesterman; de Campos, Jose Ribas Milanez

    2014-01-01

    ABSTRACT Objective: To describe a new surgical technique to treat pectus excavatum utilizing low hardness solid silicone block that can be carved during the intraoperative period promoting a better aesthetic result. Methods: Between May 1994 and February 2013, 34 male patients presenting pectus excavatum were submitted to surgical repair with the use of low hardness solid silicone block, 10 to 30 Shore A. A block-shaped parallelepiped was used with height and base size coinciding with those of the bone defect. The block was carved intraoperatively according to the shape of the dissected space. The patients were followed for a minimum of 120 days postoperatively. The results and the complications were recorded. Results: From the 34 patients operated on, 28 were primary surgeries and 6 were secondary treatment, using other surgical techniques, bone or implant procedures. Postoperative complications included two case of hematomas and eight of seromas. It was necessary to remove the implant in one patient due to pain, and review surgery was performed in another to check prothesis dimensions. Two patients were submitted to fat grafting to improve the chest wall contour. The result was considered satisfactory in 33 patients. Conclusion: The procedure proved to be fast and effective. The results of carved silicone block were more effective for allowing a more refined contour as compared to custom made implants. PMID:25003924

  19. Descending aortic replacement after Nuss for pectus excavatum in a Marfan patient—Case report

    PubMed Central

    Jaroszewski, Dawn; Ewais, MennatAllah; DeValeria, Patrick; Gotway, Michael; Craig Miller, D.

    2016-01-01

    Introduction The Nuss procedure for pectus excavatum (PE) repair has been successfully performed in Marfan syndrome (MFS) patients however there is concern for future risk of aortic dilation/rupture and need for emergent access with support bars in place. Case presentation We present a 45 year-old male with MFS that required descending aortic replacement shortly after modified Nuss repair. Discussion The majority of MFS patients have severe PE and repair with the Nuss procedure is not uncommon. The risk for life threatening aortic dilation, dissection, or rupture in such patients is a concern when utilizing this technique. Our work has been reported in line with the CARE criteria. Conclusion Nuss repair should be considered in MFS patients with technique modifications and careful consideration of future risk of aortic dilation and rupture. PMID:26895112

  20. Minimally invasive repair of pectus excavatum (MIRPE) in adults: is it a proper choice?

    PubMed Central

    Demirkaya, Ahmet; Kılıç, Burcu; Kara, Hasan Volkan; Yakşi, Osman; Alizade, Nurlan; Demirhan, Özkan; Sayılgan, Cem; Turna, Akif; Kaynak, Kamil

    2016-01-01

    Introduction The Nuss procedure is suitable for prepubertal and early pubertal patients but can also be used in adult patients. Aim To determine whether the minimally invasive technique (MIRPE) can also be performed successfully in adults. Material and methods Between July 2006 and January 2016, 836 patients (744 male, 92 female) underwent correction of pectus excavatum with the MIRPE technique at our institution. The mean age was 16.8 years (2–45 years). There were 236 adult patients (28.2%) (> 18 years) – 20 female, 216 male. The mean age among the adult patients was 23.2 years (18–45 years). The recorded data included length of hospital stay, postoperative complications, number of bars used, duration of the surgical procedure and signs of pneumothorax on the postoperative chest X-ray. Results The MIRPE was performed in 236 adult patients. The average operative time was 44.4 min (25–90 min). The median postoperative stay was 4.92 ±2.81 days (3–21 days) in adults and 4.64 ±1.58 (2–13) in younger patients. The difference was not statistically significant (p = 0.637). Two or more bars were used in 36 (15.8%) adult patients and in 44 (7.5%) younger patients. The difference was not statistically significant either (p = 0.068). Regarding the overall complications, complication rates among the adult patients and younger patients were 26.2% and 11.8% respectively. The difference was statistically significant (p = 0.007). Conclusions MIRPE is a feasible procedure that produces good long-term results in the treatment of pectus excavatum in adults. PMID:27458490

  1. Off-pump minimally invasive direct coronary artery bypass in patients with cosmetic prosthesis for pectus excavatum.

    PubMed

    Massi, Francesco; Manca, Mario; Muretti, Mirko; Portoghese, Michele

    2016-08-01

    Pectus excavatum can be associated with coronary artery diseases that can become difficult to manage in urgent situations. We describe the use of an off-pump minimally invasive direct coronary artery bypass (MIDCAB) through the fourth intercostal space incision in a patient with pectus excavatum and acute coronary syndrome who previously underwent a cosmetic prosthesis implantation. The patient refused any surgical procedure that could compromise the integrity of his cosmetic prosthesis and a left mini-thoracotomy was a good option to avoid the removal of the prosthesis. The preservation of the integrity of the thoracic cage enhanced chest wall stability and pulmonary function and permitted avoidance of inadvertent cardiac structure iatrogenic injuries. MIDCAB was optimal for the exposure of the left internal thoracic artery and the left anterior descending artery. The deformity of the chest should not be considered as an absolute contraindication to off-pump MIDCAB when other surgical options are not viable, even in emergency situations. PMID:27170745

  2. Early complications of the Nuss procedure for pectus excavatum: a prospective study.

    PubMed

    Castellani, Christoph; Schalamon, Johannes; Saxena, Amulya K; Höellwarth, Michael E

    2008-06-01

    The Nuss procedure is a minimally invasive method for the correction of pectus excavatum, with several centers reporting its successful application. Complications related to the Nuss procedure are not uncommon and life-threatening complications have been reported. This study focuses on the incidence and management of complications in a series of 167 children and adults with funnel chest corrected by Nuss procedure. Guidelines and strategies to avoid the most common and typical complications are proposed. All patients with funnel chest, operated between April 2000 and 2006 were evaluated prospectively. Our surgical approach involved the submuscular insertion of the pectus bar under right-sided thoracoscopic control. The bar was secured in most cases with one stabilizer on the right side on the underlying rib to prevent bar displacement. Postoperative pain was primarily managed by epidural catheters. All data in the patient report forms was prospectively entered in a database. All complications were documented and classified into major or minor complication. A major complication was noted, if an organ injury occurred or if a significant surgical intervention became necessary. A minor complication was documented, if either an endoscopy or an evacuation of fluid or gas from the thorax by puncture were necessary. One hundred and sixty seven patients (136 males and 31 females) with a mean age of 16.3 (range 5-40 years) were included in this study. Major complications occurred in seven patients (4.2%) and consisted of one intraoperative heart perforation, one piercing of the liver with the trocar, bar infections (n = 2) and significant bar displacement (n = 3). Minor complications were seen in 122 patients (73.1%) and consisted of breakage of wires used to secure the lateral stabilizer plate (n = 48), pleural effusions (n = 28), intraoperative rupture of the intercostal muscle (n = 15), pericardial tears without clinical significance (n = 7) and lung atelectasia (n = 4

  3. Systematic review of surgical treatment techniques for adult and pediatric patients with pectus excavatum

    PubMed Central

    2014-01-01

    This compares outcome measures of current pectus excavatum (PEx) treatments, namely the Nuss and Ravitch procedures, in pediatric and adult patients. Original investigations that stratified PEx patients based on current treatment and age (pediatric = 0–21; adult 17–99) were considered for inclusion. Outcome measures were: operation duration, analgesia duration, blood loss, length of stay (LOS), outcome ratings, complications, and percentage requiring reoperations. Adult implant patients (18.8%) had higher reoperation rates than adult Nuss or Ravitch patients (5.3% and 3.3% respectively). Adult Nuss patients had longer LOS (7.3 days), more strut/bar displacement (6.1%), and more epidural analgesia (3 days) than adult Ravitch patients (2.9 days, 0%, 0 days). Excluding pectus bar and strut displacements, pediatric and adult Nuss patients tended to have higher complication rates (pediatric - 38%; adult - 21%) compared to pediatric and adult Ravitch patients (12.5%; 8%). Pediatric Ravitch patients clearly had more strut displacements than adult Ravitch patients (0% and 6.4% respectively). These results suggest significantly better results in common PEx surgical repair techniques (i.e. Nuss and Ravitch) than uncommon techniques (i.e. Implants and Robicsek). The results suggest slightly better outcomes in pediatric Nuss procedure patients as compared with all other groups. We recommend that symptomatic pediatric patients with uncomplicated PEx receive the Nuss procedure. We suggest that adult patients receive the Nuss or Ravitch procedure, even though the long-term complication rates of the adult Nuss procedure require more investigation. PMID:24506826

  4. Semi-automatic 3D segmentation of costal cartilage in CT data from Pectus Excavatum patients

    NASA Astrophysics Data System (ADS)

    Barbosa, Daniel; Queirós, Sandro; Rodrigues, Nuno; Correia-Pinto, Jorge; Vilaça, J.

    2015-03-01

    One of the current frontiers in the clinical management of Pectus Excavatum (PE) patients is the prediction of the surgical outcome prior to the intervention. This can be done through computerized simulation of the Nuss procedure, which requires an anatomically correct representation of the costal cartilage. To this end, we take advantage of the costal cartilage tubular structure to detect it through multi-scale vesselness filtering. This information is then used in an interactive 2D initialization procedure which uses anatomical maximum intensity projections of 3D vesselness feature images to efficiently initialize the 3D segmentation process. We identify the cartilage tissue centerlines in these projected 2D images using a livewire approach. We finally refine the 3D cartilage surface through region-based sparse field level-sets. We have tested the proposed algorithm in 6 noncontrast CT datasets from PE patients. A good segmentation performance was found against reference manual contouring, with an average Dice coefficient of 0.75±0.04 and an average mean surface distance of 1.69+/-0.30mm. The proposed method requires roughly 1 minute for the interactive initialization step, which can positively contribute to an extended use of this tool in clinical practice, since current manual delineation of the costal cartilage can take up to an hour.

  5. A Sensorized Nuss Bar for Patient-Specific Treatment of Pectus Excavatum

    PubMed Central

    Betti, Stefano; Ciuti, Gastone; Ricotti, Leonardo; Ghionzoli, Marco; Cavallo, Filippo; Messineo, Antonio; Menciassi, Arianna

    2014-01-01

    Pectus Excavatum is an anatomical deformation characterized by a depression of the anterior chest wall. Nuss technique (representing the current clinical golden standard) consists in the introduction of a corrective metal bar, in order to raise the sternum in its anatomic natural position. Nowadays, the bar plays purely a mechanical/corrective action and is kept implanted for about three years, supporting up to a maximum force of 250 N. Our study aims at optimizing the procedure of correction, in terms of monitoring the bar effect, minimizing the body response, and facilitating the bar removal. The sensorized Nuss bar prototype inserted in a platform for telemedicine described in this article is able to monitor in vitro pressure data variations, with more than 150 discrete measurements during the operating period. This behavior is promising for future clinical applications, in which the device could be exploited to monitor the forces at work, thus, providing a customized therapeutic protocol, which in turn may optimize the period of implant. The sensorized bar was also provided with a polymeric coating, able to influence human dermal fibroblast behavior in vitro. This highlights the possibility to minimize, in future in vivo applications, tissue fibrotic responses. PMID:25268912

  6. Nuss procedure for repair of pectus excavatum after failed Ravitch procedure in adults: indications and caveats

    PubMed Central

    Kocher, Gregor J.; Gstrein, Nathalie; Jaroszewski, Dawn E.; Ewais, Mennatallah M.

    2016-01-01

    Background Recurrence of pectus excavatum (PE) is not an uncommon problem after open repair using the Ravitch technique. The optimal approach for redo surgery is still under debate, especially in adults with less chest wall pliability. Aim of this study was to investigate the usefulness and efficacy of the minimally invasive Nuss technique for repair of recurrent PE after conventional open repair. Methods We performed a retrospective multicentre review of 20 adult patients from University Hospital Bern (n=6) and the US Mayo Clinic (n=14) who underwent minimally invasive repair of recurrent PE after unsuccessful prior Ravitch procedure. Results Mean patient age at primary open correction was 21 years, with recurrence being evident after a mean duration of 10.5 years (range, 0.25–47 years). Mean age at redo surgery using the Nuss technique was 31 years, with a mean Haller index of 4.7 before and 2.5 after final correction. Main reason for redo surgery was recurrent or persistent deformity (100%), followed by chest pain (75%) and exercise intolerance (75%). No major intraoperative or postoperative complications occurred and successful correction was possible in all patients. Conclusions Although the procedure itself is more challenging, the minimally invasive Nuss technique can be safely and successfully used for repair of recurrent PE after failed open surgery. In our series final results were good to excellent in the majority of patients without major complications or recurrence.

  7. Open surgical correction combined with an external splint for correction of a non-compliant pectus excavatum in a cat.

    PubMed

    Mestrinho, Lisa A; Ferreira, Carina A; Lopes, António M; Niza, Maria Mre; Hamaide, Annick J

    2012-02-01

    A 4-month-old domestic shorthair female cat weighing 1.3 kg was presented for evaluation of respiratory distress. The animal showed evident dyspnoea with exercise intolerance and a marked concave deformation of the sternum. After measurements of the fronto-sagittal and vertebral indexes, the pectus was classified as moderate and surgery was elected. Surgical correction was performed using an open approach to the sternum with osteotomy of the last sternebra and costochondral junctions of the eighth and ninth ribs bilaterally. A silicone based, U-shape external splint was manufactured and used to stabilise the sternum. Immediate and 5-week postsurgical radiographs revealed a decreased concavity of the sternum and an increase thoracic height at the level of the last sternebra. Postoperative results suggest that this technique could be an effective and economical option for cats with pectus excavatum with a non-compliant sternum. PMID:22314092

  8. Surgical correction of 639 pectus excavatum cases via the Nuss procedure

    PubMed Central

    Zhang, Dong-Kun; Tang, Ji-Ming; Ben, Xiao-Song; Xie, Liang; Zhou, Hai-Yu; Ye, Xiong; Zhou, Zi-Hao; Shi, Rui-Qing; Xiao, Pu

    2015-01-01

    Background To review the clinical experience and short- to middle-term effects of the Nuss procedure for correction of pectus excavatum (PE). Methods From September 2006 to August 2014, 639 patients with PE were treated using the Nuss procedure. Of these, 546 were male and 93 were female. The mean age was 15.3±5.8 years (2.5-49 years). Preoperative chest CT scans Haller index (HI) was 4.3±1.7 (2.9-17.4), with 75 cases of mild PE (HI <3.2), 114 cases of moderate PE (HI 3.2-3.5), 393 cases of severe PE (HI 3.6-6.0), and 57 cases of extremely severe PE (HI >6.0). Results A total of 638 patients successfully completed the surgery, an 11-year-old male patient who died after the surgery had undergone ventricular septal defect closure surgery through a sternal incision 7 years ago. The mean operative time was 64.3±41.7 min (40-310 min). Excluding the patient who died, the average blood loss was 24.5±17.8 mL (10-160 mL). The average length of postoperative hospital stay was 5.2±2.9 days (4-36 days). A total of 484 cases (75.7%) required 1 steel bar insertion, 153 cases (24.0%) required 2 steel bars, and 2 cases (0.3%) required 3 bars. Postoperative evaluation of the surgery outcomes revealed the following: excellent in 504 cases, good in 105, fair in 28 and poor in 2, good quality rate was 95.3%. Conclusions Correction of PE via the Nuss procedure is minimally invasive and simple to perform with good short and mid-term effects, while long-term efficacy remains to be determined. PMID:26543607

  9. Pectus excavatum postsurgical outcome based on preoperative soft body dynamics simulation

    NASA Astrophysics Data System (ADS)

    Moreira, Antonio H. J.; Rodrigues, Pedro L.; Fonseca, Jaime; Pinho, A. C. M.; Rodrigues, Nuno F.; Correia-Pinto, Jorge; Vilaça, João L.

    2012-02-01

    Pectus excavatum is the most common congenital deformity of the anterior chest wall, in which an abnormal formation of the rib cage gives the chest a caved-in or sunken appearance. Today, the surgical correction of this deformity is carried out in children and adults through Nuss technic, which consists in the placement of a prosthetic bar under the sternum and over the ribs. Although this technique has been shown to be safe and reliable, not all patients have achieved adequate cosmetic outcome. This often leads to psychological problems and social stress, before and after the surgical correction. This paper targets this particular problem by presenting a method to predict the patient surgical outcome based on pre-surgical imagiologic information and chest skin dynamic modulation. The proposed approach uses the patient pre-surgical thoracic CT scan and anatomical-surgical references to perform a 3D segmentation of the left ribs, right ribs, sternum and skin. The technique encompasses three steps: a) approximation of the cartilages, between the ribs and the sternum, trough b-spline interpolation; b) a volumetric mass spring model that connects two layers - inner skin layer based on the outer pleura contour and the outer surface skin; and c) displacement of the sternum according to the prosthetic bar position. A dynamic model of the skin around the chest wall region was generated, capable of simulating the effect of the movement of the prosthetic bar along the sternum. The results were compared and validated with patient postsurgical skin surface acquired with Polhemus FastSCAN system.

  10. Genetic Linkage Localizes an Adolescent Idiopathic Scoliosis and Pectus Excavatum Gene to the 18q Chromosome

    PubMed Central

    Gurnett, Christina A; Alaee, Farhang; Bowcock, Anne; Kruse, Lisa; Lenke, Lawrence G.; Bridwell, Keith H.; Kuklo, Timothy; Luhmann, Scott J.; Dobbs, Matthew B.

    2009-01-01

    Study Design A single large family, in which adolescent idiopathic scoliosis (AIS) and pectus excavatum (PE) segregate as an autosomal dominant condition, was evaluated. Genome-wide linkage analysis and candidate gene sequencing were performed. Objective To map the disease-causing locus in a large Caucasian family in which AIS and PE co-segregate. Summary of Background Data AIS and PE are common musculoskeletal conditions known to have a genetic component, though few genes have been identified for either. Genetic studies have been confounded by a lack of large families in which the disorders segregate. Methods Clinical examinations were performed on the proband, who underwent posterior spinal fusion, and twelve additional affected family members. To map a gene causing AIS and PE, a genome-wide linkage analysis was performed with the Affymetrix Mapping 10K XbaI array on thirteen affected and ten unaffected family members. Candidate genes were sequenced. Results AIS was present in thirteen female family members and PE was present in three males and one female. Genome-wide linkage analysis resulted in a linkage peak on chromosome 18q with a maximum parametric multipoint logarithm of the odds (LOD) score of 3.86. Recombinants delineated the critical genetic region to an interval of 6.4 cM between SNP_A-1519369 and SNP_A-1507702, corresponding to a 7.06 Mb region (hg18: chr18:26342508-34395660). The chromosome 18q linkage region contains more than 30 genes. Re-sequencing of the coding regions of 21 candidate genes in the region did not reveal any causative mutation. Conclusion Linkage analysis in this large family demonstrated a novel locus for AIS and PE on chromosome 18q. Because of the increased frequency of PE in family members of AIS patients, consideration of family members with PE as affected may increase the power of AIS genetic linkage studies. PMID:19139660

  11. Combined mitral valve replacement associated with the Bentall procedure, diaphragmatic hernia repair and reconstruction of the pectus excavatum in a 26-year-old patient with Marfan syndrome

    PubMed Central

    Stępiński, Piotr; Aboul-Hassan, Sleiman Sebastian; Szymańska, Anna; Marczak, Jakub; Cichoń, Romuald

    2016-01-01

    A 26-year-old man with Marfan syndrome was admitted as an emergency patient with ascending aorta aneurysm, severe mitral and aortic regurgitation, diaphragmatic hernia and pectus excavatum. After completion of diagnostics a combined surgical procedure was performed. PMID:27516786

  12. The study of physicochemical properties of stabilizing plates removed from the body after treatment of pectus excavatum.

    PubMed

    Kajzer, Anita; Kajzer, Wojciech; Dzielicki, Józef; Matejczyk, Dawid

    2015-01-01

    This paper presents the results of a physicochemical surface study and clinical observation of a new generation of plates for the treatment of pectus excavatum. Analysis of the data allowed us to investigate the effect of implant design and condition of their surface on the results of treatment of pectus excavatum. In the study, we performed an analysis of clinical data, obtained after a suitable period of treatment with the use of implants, as well as a study of physicochemical properties of stabilizing plates after their removal from the body. Surface roughness, the surface wettability and corrosion resistance were measured, and the results were compared with clinical observations. When removing the plates we found only slight inflammatory-periosteal reactions around the wire fixing transverse stabilizing plates to the ribs and locking the base plate correcting the distortion. The corrective plates did not shift or rotate during the entire treatment period, giving an optimal, oval and natural shape of the chest. The obtained values of the parameters investigated indicate that the reduction in resistance to pitting corrosion occurred in the areas where laser marking was made to identify the plate. The remaining plates, in spite of mechanical damage of the surface, were characterized by good corrosion resistance, a fact which is confirmed by the results of clinical evaluation. PMID:26400194

  13. Revision breast and chest wall reconstruction in Poland and pectus excavatum following implant complication using free deep inferior epigastric perforator flap

    PubMed Central

    Dionyssiou, Dimitrios; Demiri, Efterpi; Batsis, Georgios; Pavlidis, Leonidas

    2015-01-01

    This study aims to present the case of a female patient with Poland's syndrome and pectus excavatum deformity who underwent breast and chest wall reconstruction with a pre-shaped free deep inferior epigastric perforator flap. A 57-year-old female patient with Poland's syndrome and pectus excavatum presented with a Baker III capsular contracture following a previously performed implant-based right breast reconstruction. After a chest and abdominal CT angiography, she was staged as 2A1 chest wall deformity according to Park's classification and underwent implant removal and capsulectomy, followed by a pre-shaped free abdominal flap transfer, providing both breast reconstruction and chest wall deformity correction in a single stage operation. Post-operative course was uneventful, and the aesthetic result remains highly satisfactory 24 months after surgery. Deep inferior epigastric free flap represents an interesting reconstructive solution when treating Poland's syndrome female patients with chest wall and breast deformities. PMID:25991894

  14. Postoperative epidural analgesia for patients undergoing pectus excavatum corrective surgery: a 10-year retrospective analysis

    PubMed Central

    Siddiqui, Asad; Tse, Andrew; Paul, James E; Fitzgerald, Peter; Teh, Bernice

    2016-01-01

    Introduction Managing postoperative pain in patients undergoing minimally invasive pectus excavatum repair (Nuss procedure) is challenging but essential in facilitating ambulation and minimizing the length of stay. Although multiple epidural regimens with varying opioids are presently used for pain management, there is currently no clinical consensus regarding which epidural regimen provides the best analgesia outcomes with the fewest side effects. This 10-year retrospective cohort study was performed to compare the quality of analgesia and the incidence of side effects associated with the three most common epidural regimens used at a tertiary care children’s hospital, in patients undergoing the Nuss procedure. Methods Seventy-two pediatric patients were identified as having been treated with one of three epidural regimens for postoperative pain management following the Nuss procedure: Group A (n=12) received 0.125% bupivacaine and 5 µg/mL fentanyl, Group B (n=21) received 0.125% bupivacaine and 10 µg/mL hydromorphone, and Group C (n=39) received 0.1% ropivacaine and 20 µg/mL hydromorphone. Our primary outcome was maximal daily pain scores (numerical rating scale 0–10), with an analytical focus on postoperative day 1 scores. The primary outcome was analyzed using linear regression. The secondary outcomes included the length of stay, side-effect profiles as reflected by the number of treatments for nausea and pruritus, pain scores according to epidural site insertion, occurrence of breakthrough pain, and presence of severe pain throughout their hospital stay. Secondary outcomes were analyzed using linear or logistic regression adjusted for pain scores at baseline. The criterion for statistical significance was set a priori at alpha =0.05. Results Group A had significantly higher day-1 pain scores (score 5.42/10) than Group B (4.52/10; P=0.030) and Group C (4.49/10; P=0.015) after adjusting for baseline pain and age. No significant difference in maximum daily

  15. Use of laryngeal mask airway for non-endotracheal intubated anesthesia for patients with pectus excavatum undergoing thoracoscopic Nuss procedure

    PubMed Central

    Du, Xiaojun; Mao, Songsong; Cui, Jianxiu; Ma, Jue; Zhang, Guangyan; Zheng, Yong; Zhou, Haiyu; Xie, Liang; Zhang, Dongkun; Shi, Ruiqing

    2016-01-01

    Background The aim of the present study was to determine the safety and feasibility of the use of laryngeal mask airway (LMA) for non-endotracheal intubated anesthesia for patients with pectus excavatum (PE) undergoing thoracoscopic Nuss procedure. Methods Between July 2015 and December 2015, 30 selected patients with PE were planned to undergo a thoracoscopic Nuss procedure using LMA for non-endotracheal intubated anesthesia in the Guangdong General Hospital. The clinical data were analyzed to evaluate the safety and feasibility of this technique. Results Of the 30 selected patients, two were female, the mean age was 16.04±5.09 years and the average Haller index was 3.37±0.88. A total of 27 cases (90%) succeeded at the first attempt, one patient required conversion to an endotracheal tube (ETT) because of continuous air leak. The peripheral O2 saturation (SpO2), end-tidal carbon dioxide (EtCO2) values, heart rate (HR), and mean arterial blood pressure (MAP) remained stable throughout the procedure in all cases. All of the 30 patients were successfully corrected without requiring conversion to an open surgery. Two patients experienced postoperative nausea and one reported a sore throat. Neither gastro-esophageal reflux nor in-hospital mortality occurred. Conclusions The use of LMA for non-endotracheal intubated anesthesia for selected patients with PE undergoing thoracoscopic Nuss procedure is clinically safe and technically feasible. PMID:27621860

  16. Sternal Cleft and Pectus Excavatum: A Combined Approach for the Correction of a Complex Anterior Chest Wall Malformation in a Teenager.

    PubMed

    Tocchioni, Francesca; Ghionzoli, Marco; Lo Piccolo, Roberto; Deaconu, Diana E; Facchini, Flavio; Milanez De Campos, Jose R; Messineo, Antonio

    2015-06-01

    Congenital sternal cleft is a rare chest wall malformation. Because of the flexibility of the chest in infants, surgical repair should be performed by primary closure in the neonatal period. In adolescents and adults, different techniques have been suggested to overcome the lack of sternal bone tissue. We describe a very rare case of an 18-year-old woman with a complete bifid sternum associated with pectus excavatum for whom a satisfactory cosmetic and functional result was obtained by adequate surgical planning, which entailed a combination of two standardized surgical techniques. PMID:26046903

  17. Pectus excavatum repair

    MedlinePlus

    ... surgery to repair this condition -- open surgery and closed (minimally invasive) surgery. Either surgery is done while ... At the end of surgery, the incision is closed. The metal struts are removed in 6 to ...

  18. Overcorrection during treatment of pectus deformities with DCC orthoses: experience in 17 cases.

    PubMed

    Haje, S A; Haje, D P

    2006-08-01

    Treatment of pectus carinatum and pectus excavatum with dynamic chest compressor (DCC) orthoses have been reported by Haje and others. The goal of this study was to demonstrate that overcorrection during orthotic treatment of children and adolescents with pectus deformities can occur and requires medical attention. Of 3,028 children and adolescents with pectus deformities, observed between 1977 and October 2005, 1,824 were prescribed treatment with DCC orthoses and, after a few months of treatment, some overcorrection was noted in 30 patients. Of the patients who received orthoses, 738 had a minimum follow-up of 1 year and 17 of these, 2 with pectus excavatum and 15 with pectus carinatum, presented overcorrection and were studied. The dynamic remodeling method (DCC orthoses + exercises) was applied. The procedures, adopted according to each patient's needs, were: decreasing the time of orthosis wear and/or the tightening of the screws, introducing a second orthosis, and improving the prescribed exercises and/or encouraging the patient to perform them more intensively. The therapy was successful in all patients, and the result was maintained in one case of pectus excavatum followed up until adulthood. It was concluded that overcorrection during DCC orthosis wear can occur and that careful medical follow-up is necessary if this complication is to be successfully reversed. PMID:16474937

  19. ORTHOPEDIC APPROACH TO PECTUS DEFORMITIES: 32 YEARS OF STUDIES

    PubMed Central

    Haje, Sydney Abrão; de Podestá Haje, Davi

    2015-01-01

    The authors summarize a 32-year experience in the study and in the non-operative approach of pectus carinatum and pectus excavatum. Data of 4,012 patients with pectus deformities were collected from 1977 to January 2009, allowing evaluation on the etiology, pathogenesis and treatment of these deformities. Growth disturbances of anterior chest wall bones and cartilages were detected in imaging studies. Heredity, and biomechanical factors, like respiratory disturbances and scoliosis were noticed in more than 40% of the patients. The method of dynamic remodeling of the thorax – compressive orthoses simultaneously to exercises practice – was indicated in 2453 patients. Concomitant treatment with bending brace was provided in patients with 20° to 52° scoliosis. Of pectus patients with treatment indication, 1717 returned for re-evaluation: 1632 children and adolescents and 85 adults. Good results were seen in 60.6% of children and adolescents and in 27% of adults treated. No scoliosis patient presented curve worsening, and a case of 52° presented an improvement of 20° in the scoliosis with the treatment. Disturbances in the growth of the sternum and costal arches, as well as biomechanical factors related to the pathogenesis of pectus deformities, demonstrate how these deformities are correlated to orthopaedics. Appropriate evaluation of the anterior chest wall and concomitant treatment with bending brace are recommended in the presence of scoliosis. The dynamic remodeling method of the thorax requires a protocol of medical actions for a successful treatment. PMID:27004171

  20. [Children severe OSAHS with pectus excavatum: a case report].

    PubMed

    Ma, Wei; Wang, Jinfeng; Xie, Yuping

    2016-03-01

    The primary etiopathology of pediatric OSAHS includes tonsil or adenoid hypertrophy. Severe OSAHS contributes to or aggravates thoracic deformity, which is rarely reported. In the current report, This children sleep snoring more than 4 years, increasing with thoracic severe depression during sleep 2 days. Clinical examination indicated tonsil and adenoid hypertrophy, and polysomnography revealed OSAHS . The symptoms of OSAHS and severe inhalation-related sternum depression disappeared rapidly after tonsillectomy. Our findings indicated that OSAHS were the major causes underlying funnel chest in children. The rarity of the incidence may result in missed diagnosis or misdiagnosis. Polysomnography was recommended for the child diagnosed with funnel chest accompanied by upper airway stenosis. PMID:27382691

  1. Excavatoids E and F: Discovery of Two New Briaranes from the Cultured Octocoral Briareum excavatum

    PubMed Central

    Sung, Ping-Jyun; Chen, Bo-Yuan; Lin, Mei-Ru; Hwang, Tsong-Long; Wang, Wei-Hsien; Sheu, Jyh-Horng; Wu, Yang-Chang

    2009-01-01

    Two new briarane-related diterpenoids, designated as excavatoids E (1) and F (2), were isolated from the cultured octocoral Briareum excavatum. The structures of compounds 1 and 2 were established on the basis of extensive spectral data analysis. Briaranes 1 and 2 were found to exhibit moderate inhibitory effects on elastase release by human neutrophils. PMID:19841727

  2. Minimally Invasive Repair of Pectus Carinatum in Patients Unsuited to Bracing Therapy

    PubMed Central

    Suh, Jee-Won; Joo, Seok; Lee, Geun Dong; Haam, Seok Jin; Lee, Sungsoo

    2016-01-01

    Background We used an Abramson technique for minimally invasive repair of pectus carinatum in patients who preferred surgery to brace therapy, had been unsuccessfully treated via brace therapy, or were unsuitable for brace therapy because of a rigid chest wall. Methods Between July 2011 and May 2015, 16 patients with pectus carinatum underwent minimally invasive surgery. Results The mean age of the patients was 24.35±13.20 years (range, 14–57 years), and all patients were male. The percentage of excellent aesthetic results, as rated by the patients, was 37.5%, and the percentage of good results was 56.25%. The preoperative and postoperative Haller Index values were 2.01±0.19 (range, 1.60–2.31), and 2.22±0.19 (range, 1.87–2.50), respectively (p-value=0.01), and the median hospital stay was 7.09±2.91 days (range, 5–15 days). Only one patient experienced postoperative complications. Conclusion Minimally invasive repair is effective for the treatment of pectus carinatum, even in adult patients. PMID:27066432

  3. Briacavatolides D–F, New Briaranes from the Taiwanese Octocoral Briareum excavatum

    PubMed Central

    Wang, Shang-Kwei; Yeh, Tsun-Tai; Duh, Chang-Yih

    2012-01-01

    In the continued search for novel bioactive substances from the Taiwanese octocoral Briareum excavatum collected at Orchid Island, three new briarane-type diterpenoids, briacavatolides D–F (1–3) were isolated from the acetone extract. The structures of these compounds were elucidated by extensive NMR spectroscopic analysis and physical data. The anti-HCMV (human cytomegalovirus) activity of 1–3 and their cytotoxicity against selected cancer cell lines were evaluated. PMID:23118724

  4. Briacavatolides A–C, New Briaranes from the Taiwanese Octocoral Briareum excavatum

    PubMed Central

    Yeh, Tsun-Tai; Wang, Shang-Kwei; Dai, Chang-Feng; Duh, Chang-Yih

    2012-01-01

    In order to search for novel bioactive substances from marine organisms, we have investigated the organic extracts of the Taiwanese octocoral Briareum excavatum collected at Orchid Island. Three new briarane-type diterpenoids, briacavatolides A–C (1–3) as well as two known briaranes, briaexcavatolide U (4) and briaexcavatin L (5) were isolated from the acetone extract. The structures of these compounds were elucidated by extensive NMR spectroscopic analysis and physical data. The anti-HCMV (human cytomegalovirus) activity of 1–5 and their cytotoxicity against selected cancer cell lines were evaluated. PMID:22822353

  5. A Case of Successful Surgical Repair for Pectus Arcuatum Using Chondrosternoplasty

    PubMed Central

    Kim, Sang Yoon; Park, Samina; Kim, Eung Rae; Park, In Kyu; Kim, Young Tae; Kang, Chang Hyun

    2016-01-01

    Pectus arcuatum is a rare complex chest wall deformity. A 31-year-old female presented with a severely protruding upper sternum combined with a concave lower sternum. We planned a modified Ravitch-type operation. Through vertical mid-sternal incision, chondrectomies were performed from the second to fifth costal cartilages, saving the perichondrium. Horizontal osteotomy was performed in a wedge shape on the most protruding point, and followed by an additional partial osteotomy at the most concaved point. The harvested wedge-shape bone fragments were minced and re-implanted to the latter osteotomy site. The osteotomized sternum was fixed with multiple wirings. With chondrosternoplasty, a complex chest wall deformity can be corrected successfully. PMID:27298803

  6. Efficacy of Hyalomma scupense (Hd86) antigen against Hyalomma excavatum and H. scupense tick infestations in cattle.

    PubMed

    Galaï, Yousr; Canales, Mario; Ben Saïd, Mourad; Gharbi, Mohamed; Mhadhbi, Moez; Jedidi, Mohamed; de La Fuente, José; Darghouth, Mohamed-Aziz

    2012-11-19

    The Rhipicephalus microplus recombinant Bm86-based tick vaccines have shown their efficacy for the control of several Hyalomma cattle ticks genera, namely H. dromedarii and H. anatolicum. However, H. scupense species, the most important tick in North Africa has never been studied. Vaccination trials using either a recombinant Bm86-based vaccine or a recombinant Hd86-based vaccine (the Bm86 ortholog in H. scupense) were conducted in cattle against immature and adult H. scupense ticks and adult H. excavatum ticks. The results showed a 59.19% reduction in the number of scupense nymphs engorging on Hd86 vaccinated cattle. However, cattle vaccination with Bm86 or Hd86 did not have an effect on H. scupense or H. excavatum adult ticks infestations. These results showed that Hd86 vaccines are selectively effective against H. scupense immature instars and emphasize on an integrated anti-tick vaccine control in North Africa. PMID:23036501

  7. Pectus carinatum

    MedlinePlus

    ... carinatum may occur alone or along with other genetic disorders or syndromes. The condition causes the sternum to protrude. There is a narrow depression along the sides of the chest. This gives ...

  8. Anaesthetic Management of Laparoscopic Morgagni Hernia Repair in a Patient with Coexisting Down Syndrome, Patent Foramen Ovale and Pectus Carinatum

    PubMed Central

    Kozanhan, Betül; Başaran, Betül; Aygın, Feride; Akkoyun, İbrahim; Özmen, Sadık

    2016-01-01

    Laparoscopic repair has several advantages with a minimally invasive surgical option for children with Morgagni hernias; however, a number of physiological sequelae results from pneumoperitoneum and insufflation. These physiological changes may be more significant in patients with a congenital heart disease. Perioperative detailed evaluation, meticulous monitorization and cooperation with a surgical team are important in cases with patent foramen ovale for the possible risk of the paradoxical gas embolism. We present the anaesthetic management of a patient with patent foramen ovale, Down syndrome and pectus carinatus who successfully underwent laparoscopic Morgagni hernia repair. Under a well-managed anaesthesia that prevented complications because of pneumoperitoneum, laparoscopic surgery would be safe enough for patients with Morgagni hernia having an associated congenital heart disease. PMID:27366555

  9. Anaesthetic Management of Laparoscopic Morgagni Hernia Repair in a Patient with Coexisting Down Syndrome, Patent Foramen Ovale and Pectus Carinatum.

    PubMed

    Kozanhan, Betül; Başaran, Betül; Aygın, Feride; Akkoyun, İbrahim; Özmen, Sadık

    2016-02-01

    Laparoscopic repair has several advantages with a minimally invasive surgical option for children with Morgagni hernias; however, a number of physiological sequelae results from pneumoperitoneum and insufflation. These physiological changes may be more significant in patients with a congenital heart disease. Perioperative detailed evaluation, meticulous monitorization and cooperation with a surgical team are important in cases with patent foramen ovale for the possible risk of the paradoxical gas embolism. We present the anaesthetic management of a patient with patent foramen ovale, Down syndrome and pectus carinatus who successfully underwent laparoscopic Morgagni hernia repair. Under a well-managed anaesthesia that prevented complications because of pneumoperitoneum, laparoscopic surgery would be safe enough for patients with Morgagni hernia having an associated congenital heart disease. PMID:27366555

  10. Anti-Inflammatory and Analgesic Effects of the Marine-Derived Compound Excavatolide B Isolated from the Culture-Type Formosan Gorgonian Briareum excavatum

    PubMed Central

    Lin, Yen-You; Lin, Sung-Chun; Feng, Chien-Wei; Chen, Pei-Chin; Su, Yin-Di; Li, Chi-Min; Yang, San-Nan; Jean, Yen-Hsuan; Sung, Ping-Jyun; Duh, Chang-Yih; Wen, Zhi-Hong

    2015-01-01

    In recent years, several marine-derived compounds have been clinically evaluated. Diterpenes are secondary metabolites from soft coral that exhibit anti-inflammatory, anti-tumor and cytotoxic activities. In the present study, we isolated a natural diterpene product, excavatolide B, from cultured Formosan gorgonian Briareum excavatum and investigated its anti-inflammatory activities. We found that excavatolide B significantly inhibited the mRNA expression of the proinflammatory mediators, inducible nitric oxide synthase (iNOS) and cyclooxygenase-2 (COX-2), in lipopolysaccharide (LPS)-challenged murine macrophages (RAW 264.7). We also examined the anti-inflammatory and anti-nociceptive effects of excavatolide B on intraplantar carrageenan-induced inflammatory responses. Excavatolide B was found to significantly attenuate carrageenan-induced nociceptive behaviors, mechanical allodynia, thermal hyperalgesia, weight bearing deficits and paw edema. In addition, excavatolide B inhibited iNOS, as well as the infiltration of immune cells in carrageenan-induced inflammatory paw tissue. PMID:25923315

  11. Anti-Inflammatory and Analgesic Effects of the Marine-Derived Compound Excavatolide B Isolated from the Culture-Type Formosan Gorgonian Briareum excavatum.

    PubMed

    Lin, Yen-You; Lin, Sung-Chun; Feng, Chien-Wei; Chen, Pei-Chin; Su, Yin-Di; Li, Chi-Min; Yang, San-Nan; Jean, Yen-Hsuan; Sung, Ping-Jyun; Duh, Chang-Yih; Wen, Zhi-Hong

    2015-05-01

    In recent years, several marine-derived compounds have been clinically evaluated. Diterpenes are secondary metabolites from soft coral that exhibit anti-inflammatory, anti-tumor and cytotoxic activities. In the present study, we isolated a natural diterpene product, excavatolide B, from cultured Formosan gorgonian Briareum excavatum and investigated its anti-inflammatory activities. We found that excavatolide B significantly inhibited the mRNA expression of the proinflammatory mediators, inducible nitric oxide synthase (iNOS) and cyclooxygenase-2 (COX-2), in lipopolysaccharide (LPS)-challenged murine macrophages (RAW 264.7). We also examined the anti-inflammatory and anti-nociceptive effects of excavatolide B on intraplantar carrageenan-induced inflammatory responses. Excavatolide B was found to significantly attenuate carrageenan-induced nociceptive behaviors, mechanical allodynia, thermal hyperalgesia, weight bearing deficits and paw edema. In addition, excavatolide B inhibited iNOS, as well as the infiltration of immune cells in carrageenan-induced inflammatory paw tissue. PMID:25923315

  12. Molecular characterization of Bm86 gene orthologs from Hyalomma excavatum, Hyalomma dromedarii and Hyalomma marginatum marginatum and comparison with a vaccine candidate from Hyalomma scupense.

    PubMed

    Ben Said, Mourad; Galai, Yousr; Mhadhbi, Moez; Jedidi, Mohamed; de la Fuente, José; Darghouth, Mohamed Aziz

    2012-11-23

    The ixodid ticks from the Hyalomma genus are important pests of livestock, having major medical and veterinary significance in Northern Africa. Beside their direct pathogenic effects, these species are vectors of important diseases of livestock and in some instances of zoonoses. Anti-tick vaccines developed in Australia and Cuba based on the concealed antigen Bm86 have variable efficacy against H. anatolicum and H. dromedarii. This variation in vaccine efficacy could be explained by the variability in protein sequence between the recombinant Bm86 vaccine and Bm86 orthologs expressed in different Hyalomma species. Bm86 orthologs from three Hyalomma tick species were amplified in two overlapping fragments and sequenced. The rate of identity of the amino acid sequence of Hm86, He86 and Hdr86, the orthologs of Bm86, respectively, in H. marginatum marginatum, H. excavatum and H. dromedarii, with the Bm86 proteins from Rhipicephalus microplus (Australia, Argentina and Mozambique) ranged between 60 and 66%. The obtained amino-acid sequences of Hmm86, He86 and Hdr86 were compared with the Hd86-A1 sequence from H. scupense used as an experimental vaccine. The results showed an identity of 91, 88 and 87% for Hmm86, He86 and Hdr86, respectively. A specific program has been used to predict B cells epitopes sites. The comparison of antigenic sites between Hd86-A1 and Hm86/Hdr86/He86 revealed a diversity affecting 4, 8 and 12 antigenic peptides out of a total of 28 antigenic peptides, respectively. When the Bm86 orthologs amplification protocol adopted in this study was applied to H. excavatum, two alleles named He86p2a1 and He86p2a2 were detected in this species. This is the first time that two different alleles of Bm86 gene are recorded in the same tick specimen. He86p2a1 and He86p2a2 showed an amino acid identity of 92%. When He86p2a1 and He86p2a2 were compared to the corresponding sequence of Hd86-A1 protein, an identity of 86.4 and 91.0% was recorded, respectively. When

  13. Infant with multiple congenital anomalies and deletion (9) (q34.3)

    SciTech Connect

    Schimmenti, L.A.; Berry, S.A.; Tuchman, M.; Hirsch, B.

    1994-06-01

    The authors report on a male infant with developmental delay, growth failure, hypotonia, dolichocephaly, hypoplastic midface, epicanthal folds, down-slanting palpebral fissures, foveal hypoplasia, tracheomalacia, pectus excavatum, supraventricular tachycardia, gut malrotation, hypospadias, talipes equinovarus, short third metatarsals, capillary hemangiomata, and a de novo terminal deletion at 9q34.3.

  14. Anterior chest wall elevation using a T-fastener suture technique during a Nuss procedure.

    PubMed

    Kim, Daabin; Idowu, Olajire; Palmer, Barnard; Kim, Sunghoon

    2014-08-01

    The most critical part of the Nuss procedure is the passage of the introducer across the anterior mediastinum without cardiac injury. For patients with severe pectus excavatum, passing the introducer can be difficult and hazardous. We describe a technique that resembles a use of T-fastenerlike suture material to elevate the anterior chest. The elevation of the chest allows safe, blunt anterior mediastinal dissection before the passage of the introducer. The risk of intraoperative cardiac perforation is minimized. PMID:25087810

  15. Foraminotomia cervical posterior en el tratamiento de conflictos foraminales

    PubMed Central

    Campero, Álvaro; Barrera, Ramiro; Ajler, Pablo

    2012-01-01

    Introducción: La foraminomotima cervical posterior es un procedimiento utilizado para la descompresion radicular por via posterior y constituye una alternativa a la via clásica anterior. En este trabajo evaluamos nuestra serie de pacientes tratados por esta via. Método: Desde enero de 2008 a diciembre de 2011, 17 pacientes (18 foraminotomías) fueron operados por presentar cervicobraquialgia a causa de un conflicto foraminal, realizando un foraminotomía cervical posterior. Los pacientes fueron evaluados en el postoperatorio inmediato, al mes y a los 3 meses de la cirugía. Los parámetros para valorar los resultados fueron la Escala Análoga del Dolor (VAS), la Neck Disability Index y los criterios de Odom. Resultados: El dolor radicular por conflicto foraminal secundario a hernia de disco cervical fue el síntoma y la patología predominante. El nivel más afectado fue C5-C6. La resolución completa del dolor radicular se observó en casi todos los pacientes. La VAS preoperatoria en promedio fue de 8.8 (mínimo 8 – máximo 10), con una franca mejoría en todos los casos (0.4 en el último control). La media en la Neck Disability Index al inicio fue de 35.3 (mínimo 32 – máximo 45), con una evolución favorable en la evaluación final (0.6). Los Criterios de Odom para la evaluación de pacientes operados de columna cervical fueron satisfactorios con un promedio de 1.17. Se observaron complicaciones en 4 pacientes (23%), todas tuvieron una evolución favorable. No hubo infecciones, discitis ni empeoramiento de los síntomas preexistentes en ningún paciente. Conclusión: La foraminotomía cervical posterior es un procedimiento efectivo para el tratamiento del dolor radicular en los conflictos foraminales PMID:23596556

  16. El uso de la neuromodulación para el tratamiento del temblor

    PubMed Central

    Bendersky, Damián; Ajler, Pablo; Yampolsky, Claudio

    2014-01-01

    Introducción: El temblor puede ser un desorden incapacitante y el tratamiento de primera línea para estos pacientes es farmacológico. Sin embargo, este tratamiento puede llevar a una reducción satisfactoria del temblor en sólo el 50% de los pacientes con temblor esencial. La talamotomía era el tratamiento de elección para el temblor refractario al tratamiento médico hasta que comenzó a utilizarse la estimulación cerebral profunda (ECP) del núcleo ventral intermedio (Vim) del tálamo. En la actualidad, raramente se realiza la talamotomía. Métodos: Este artículo es una revisión no sistemática de las indicaciones, resultados, parámetros de programación y técnica quirúrgica de la ECP del Vim para el tratamiento del temblor. Resultados: Aunque los resultados clínicos son similares usando la talamotomía o la ECP del Vim, la primera causa más efectos adversos que la última. Además, la ECP puede ser usada bilateralmente, mientras que la talamotomía tiene un alto riesgo de causar disartria cuando se realiza de ambos lados. La ECP del Vim logró una adecuada mejoría del temblor en varias series de pacientes con temblor causado por temblor esencial, enfermedad de Parkinson o esclerosis múltiple. Además del Vim, hay otros blancos que están siendo usados por varios autores, tales como la zona incerta y las radiaciones prelemniscales. Conclusión: La ECP del Vim es un tratamiento útil para el temblor incapacitante refractario al tratamiento médico. Es esencial realizar una precisa selección de pacientes, así como utilizar una técnica quirúrgica correcta. Aún se desconoce el mejor blanco estereotáctico para el temblor, aunque el Vim es el más usado. PMID:25165613

  17. Un nuevo fármaco puede ser una opción de tratamiento para algunos cánceres de mama

    Cancer.gov

    Los resultados de un estudio clínico internacional permiten suponer que, en poco tiempo, habrá otra opción de tratamiento para las mujeres con cáncer de mama metastásico HER2 positivo que deja de responder a los tratamientos dirigidos con trastuzumab.

  18. Validation of an Objective Assessment Instrument for Non-Surgical Treatments of Chest Wall Deformities.

    PubMed

    Obeid, Mohammad F; Kidane, Nahom; Rechowicz, Krzysztof J; Chemlal, Salim; Kelly, Robert E; Mckenzie, Frederic D

    2016-01-01

    Depending on the severity of the condition and associated risk, surgical intervention may not always be the first choice. This is true for treating chest wall deformities such as pectus excavatum and pectus carinatum. For both conditions, novel non-surgical treatments have been developed to gradually alleviate the malformation making use of the elastic nature of the costal cartilages at an early age of the patient. To quantify the performance of such treatments, this paper introduces and discusses the development of a software-based instrument that utilizes 3D chest optical images (surface scans) as input and uses registration techniques to produce an objective gauge of a patient's physical improvement after undergoing treatments. Further discussed is an experiment designed to investigate the construct validity of the developed instrument. PMID:27046591

  19. Tratamiento ayuda a mujeres jóvenes a preservar fertilidad durante quimioterapia para cáncer de seno

    Cancer.gov

    Las mujeres jóvenes con cáncer de seno (mama) lograron preservar la fertilidad durante los tratamientos del cáncer con un fármaco inyectable bloqueador de hormonas que les provocó menopausia temporal. Los resultados del estudio se anunciaron hoy en el con

  20. Fumar durante el tratamiento de cáncer (PDQ®)—Versión para pacientes

    Cancer.gov

    Resumen de información revisada por expertos acerca de la influencia de seguir fumando sobre el tratamiento del cáncer y el riesgo de segundos cánceres. Se mencionan las intervenciones que estimulan dejar el hábito de fumar.

  1. Fumar durante el tratamiento de cáncer (PDQ®)—Versión para profesionales de salud

    Cancer.gov

    Resumen de información revisada por expertos acerca de la influencia de seguir fumando sobre el tratamiento del cáncer y el riesgo de segundos cánceres. Se mencionan las intervenciones que estimulan dejar el hábito de fumar.

  2. ACT-asthma control y tratamiento para niños: a progress report.

    PubMed

    Lewis, M A; de la Sota, A; Rachelefsky, G; Lewis, C E; Quinones, H; Richards, W

    1987-01-01

    A randomized clinical trial is in progress to evaluate an asthma educational program for Latino children and their parents. The intervention, "ACT-Asma Control y Tratamiento Para Niños," was adapted from ACT for Kids, an asthma self-management program for English-speaking families. Results of a pilot study indicated that socioeconomic status was a critical variable to be considered in the design of such programs. Latino children and parents encounter significant barriers to access and continuity of medical care. Therefore, the intervention was redesigned to include "linkages" using a nurse to reduce barriers and to coordinate care. The lesson plans emphasize concrete, experimental learning experiences, with repetition of key points in each session. PMID:3654235

  3. Prevalence of Swimming Puppy Syndrome in 2,443 Puppies during the Years 2006–2012 in Thailand

    PubMed Central

    Yano, Terdsak

    2013-01-01

    The purpose of this study was to report on the prevalence of swimming puppy syndrome (SPS) and investigate predisposing factors. Data were recorded from 2,443 puppies (1,183 males and 1,260 females) in Thailand, October 2006–September 2012, including breed, sex, number of puppies per litter, type of nest floor, number of affected limbs, and occurrence of pectus excavatum. Fifty-two puppies (2.13%) were diagnosed with SPS. The breed most frequently affected was English Bulldog (8.33%). There was no significant difference (P > 0.05) between presence and absence of disease based on sex, breed, and nest floor type. The number of puppies per litter was associated with SPS; puppies from smaller litters (1.92 ± 1.12) had a higher prevalence of the disease (P < 0.01) than puppies from larger litters (3.64 ± 2.24). Moreover, 15.38% of puppies with affected limbs showed signs of pectus excavatum (8/52); this clinical sign was more prevalent (P < 0.01) in puppies with all four limbs affected with SPS. PMID:23819102

  4. New material for Nuss procedure.

    PubMed

    Osawa, Hisayoshi; Mawatari, Tohru; Watanabe, Atsushi; Abe, Tomio

    2004-10-01

    The Nuss procedure for pectus excavatum repair has been considered an acceptable method in terms of its decreased invasiveness and excellent cosmetic results. Although a steel bar is usually used for elevating the sternum, we used a titanium alloy plate for pectus excavatum repair for the first time. The characteristics of this plate are that 1) it comes out translucently on X-rays, 2) MRI examination is possible because titanium will not be magnetized, and 3) it is possible to go through the security checkpoint at the airport without setting off the metal detector. Furthermore, the titanium alloy is highly elastic, which reduces complications such as dislocation, and it excels in the conformity to organization. Patients who have received the Nuss operation are forced to somewhat limit their daily life for two or three years until the bar is removed. A plate made from titanium alloy resolves this problem because of its material and it is thought to be an ideal candidate for elevating the sternum during the Nuss operation. PMID:15563267

  5. Estimation of cartilaginous region in noncontrast CT of the chest

    NASA Astrophysics Data System (ADS)

    Zhao, Qian; Safdar, Nabile; Yu, Glenna; Myers, Emmarie; Sandler, Anthony; Linguraru, Marius George

    2014-03-01

    Pectus excavatum is a posterior depression of the sternum and adjacent costal cartilages and is the most common congenital deformity of the anterior chest wall. Its surgical repair can be performed via minimally invasive procedures that involve sternum and cartilage relocation and benefit from adequate surgical planning. In this study, we propose a method to estimate the cartilage regions in thoracic CT scans, which is the first step of statistical modeling of the osseous and cartilaginous structures for the rib cage. The ribs and sternum are first segmented by using interactive region growing and removing the vertebral column with morphological operations. The entire chest wall is also segmented to estimate the skin surface. After the segmentation, surface meshes are generated from the volumetric data and the skeleton of the ribs is extracted using surface contraction method. Then the cartilage surface is approximated via contracting the skin surface to the osseous structure. The ribs' skeleton is projected to the cartilage surface and the cartilages are estimated using cubic interpolation given the joints with the sternum. The final cartilage regions are formed by the cartilage surface inside the convex hull of the estimated cartilages. The method was validated with the CT scans of two pectus excavatum patients and three healthy subjects. The average distance between the estimated cartilage surface and the ground truth is 2.89 mm. The promising results indicate the effectiveness of cartilage surface estimation using the skin surface.

  6. Nueva opción de tratamiento para mujeres jóvenes con cáncer de seno sensible a las hormonas

    Cancer.gov

    Un fármaco usado para el tratamiento del cáncer de seno (mama), conocido como exemestano, es más eficaz que tamoxifeno, un fármaco preventivo de uso común para el cáncer de seno, en la prevención de la recidiva del cáncer de seno en mujeres jóvenes que ta

  7. Male Pectoral Implants: Radiographic Appearance of Complications.

    PubMed

    Kuzmiak, Cherie M; Damitz, Lynn; Burke, Rachael; Hwang, Michael

    2016-03-01

    There has been a significant surge in aesthetic chest surgery for men in the last several years. Male chest enhancement is performed with surgical placement of a solid silicone pectoral implant. In the past, male chest correction and implantation were limited to the treatment of men who had congenital absence or atrophy of the pectoralis muscle and pectus excavatum deformity. But today, the popularization of increased chest and pectoral size fostered by body builders has more men desiring chest correction with implantation for non-medical reasons. We present a case of a 44-year-old, male with a displaced left pectoral implant with near extrusion and with an associated peri-implant soft tissue mass and fluid collection. While the imaging of these patients is uncommon, our case study presents the radiographic findings of male chest enhancement with associated complications. PMID:27200162

  8. A case of simultaneous bilateral spontaneous pneumothorax after the Nuss procedure.

    PubMed

    Matsuoka, Shunichiro; Miyazawa, Masahisa; Kashimoto, Kentaro; Kobayashi, Hiroaki; Mitsui, Fumihiko; Tsunoda, Hajime; Kunitomo, Kazuyoshi; Chisuwa, Hisanao; Haba, Yoshiaki

    2016-06-01

    We present a case of simultaneous bilateral spontaneous pneumothorax caused by a pleuro-pleural communication formed from Nuss procedure for pectus excavatum. A 17-year-old man with a history of Nuss operation complained chest pain and dyspnea. A chest roentgenogram demonstrated a tiny bilateral pneumothorax and two metallic bars inserted at the Nuss procedure. Computed tomography revealed furthermore a bulla in the apex of the left lung. The bilateral pneumothorax critically deteriorated after 4 days from onset and urgent bilateral chest drainages were performed. Nevertheless the drainages the full expansion of both lungs was not obtained and air leakage only from left side was continued. A video-assisted left bullectomy was performed 9 days after the tube insertion. The two bars penetrating anterior mediastinal pleura were thought to be a cause of the simultaneous bilateral spontaneous pneumothorax. PMID:25352312

  9. The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

    PubMed

    Couser, Natario L; Masood, Maheer M; Strande, Natasha T; Foreman, Ann Katherine M; Crooks, Kristy; Weck, Karen E; Lu, Mei; Wilhelmsen, Kirk C; Roche, Myra; Evans, James P; Berg, Jonathan S; Powell, Cynthia M

    2015-09-01

    The Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (MCAHS1) has been described in two families to date. We describe a 2-year-old Mexican American boy with the syndrome and additional manifestations not yet reported as part of the phenotype. The patient presented with severe hypotonia, microphallus and left cryptorchidism, and was later diagnosed with epilepsy and severe cortical visual impairment. He also had supernumerary nipples, pectus excavatum, a short upturned nose, fleshy ear lobes, and a right auricular pit. Massively parallel exome sequencing and analysis revealed two novel compound heterozygous missense (Trp136Gly and Ser859Thr) variants in the PIGN gene. This report extends and further defines the phenotype of this syndrome. PMID:25920937

  10. Ellis van Creveld syndome.

    PubMed

    Ghanekar, Jaishree; Sangrampurkar, Sujata; Hulinaykar, Raman; Ahmer, Tariq

    2009-07-01

    Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia is a rare autosomal recessive disorder. It is a tetrad of chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital heart disease. In several case reports, dysplasia involving other organs has also been identified. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Many Indian cases have also been reported. This report describes a classical case of EVC syndrome in a 22 year old woman of Indian origin born of a consanginous marriage. The patient had chondrodysplasia of tubular bones resulting in disproportionate dwarfism, postaxial polydactyly, severely dystrophic nails, partially absent teeth, pectus excavatum with narrow chest, knock knees and AV canal defect. PMID:20329417

  11. Minimally Invasive Thoracic Surgery in Pediatric Patients: The Taiwan Experience

    PubMed Central

    Huang, Yu-Kai; Chou, Chieh; Li, Chung-Liang; Chiu, Hui-Gin; Chang, Yu-Tang

    2013-01-01

    Minimally invasive technology or laparoscopic surgery underwent a major breakthrough over the past two decades. The first experience of thoracoscopy in children was reported around 1980 for diagnosis of intrathoracic pathology and neoplasia. Up until the middle of the 1990s, the surgical community in Taiwan was still not well prepared to accept the coming era of minimally invasive surgery. In the beginning, laparoscopy was performed in only a few specialties and only relatively short or simple surgeries were considered. But now, the Taiwan's experiences over the several different clinical scenarios were dramatically increased. Therefore, we elaborated on the experience about pectus excavatum: Nuss procedure, primary spontaneous hemopneumothorax, thoracoscopic thymectomy, and empyema in Taiwan. PMID:23819123

  12. Evaluation of the effects of rehabilitation after surgery using the Ravitch and Nuss methods: a case study

    PubMed Central

    2016-01-01

    Rehabilitation may be helpful in the prevention of complications associated with the treatment of patients with pectus excavatum who are subjected to surgery using the Ravitch and Nuss methods. This paper presents the case of a patient who underwent successful physical rehabilitation after 8 weeks from the surgery using the combined method. As part of the Nuss procedure, two plates were implanted to form a scaffolding for the patient's chest, which had previously been corrected with the Ravitch method. The plates were to be removed after 24 months of treatment. After the procedure, in spite of the favorable cosmetic effect of the repair, there was a significant decrease in the spirometric values and physical fitness of the patient. He underwent an individual physiotherapy program, which lasted four weeks. The streamlining of the respiratory system has significantly improved the spirometric values and raised the overall performance of the patient's organism. PMID:27212987

  13. Gorlin syndrome and bilateral ovarian fibroma

    PubMed Central

    Pirschner, Fernanda; Bastos, Pollyana Marçal; Contarato, George Luiz; Bimbato, Anna Carolina Bon Lima; Filho, Antônio Chambô

    2012-01-01

    INTRODUCTION Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare hereditary, autosomal dominant disease that affects various systems. Its prevalence is estimated at 1/57,000 to 1/256,000 of the population. It is characterized by basal cell carcinomas, multiple odontogenic keratocysts, skeletal abnormalities and ovarian fibroma, among other disorders. PRESENTATION OF CASE To report the case of a young patient with Gorlin syndrome and bilateral ovarian fibroma. DISCUSSION A 20-year old patient with Gorlin syndrome presented with facial asymmetry, broad nasal root, dental abnormalities, micrognathism, convergent strabismus, multiple pigmented lesions on the trunk and face, pectus excavatum, kyphoscoliosis and a palpable mass in the abdomen occupying the entire pelvic region. CONCLUSION Gorlin–Goltz syndrome is a hereditary pathology that includes numerous clinical manifestations. Diagnosis is clinical and genetic confirmation is unnecessary. PMID:22771908

  14. Robinow Syndrome: A Rare Diagnosis

    PubMed Central

    Agarwalla, Sunil Kumar; Pradhan, Swayanprava

    2015-01-01

    Robinow syndrome is a rare entity characterized by short stature and abnormalities of the head, face and external genitalia. It is otherwise called ‘fetal face syndrome’ due to its resemblance with fetal face. We present an eight-year-old female child who came with mesomelic short stature, abnormal facial features, multiple sets of teeth (both deciduous and permanent), pectus excavatum, umbilical hernia, limb abnormalities like shortening of fore arm, simian crease, broad thumbs and other fingers, clinodactyly, abnormal carrying angle, absent labia minora, absent clitoris. Apart from physical appearance she was having diversification of recti and umbilical hernia. Due to the several physical presentation mild systemic involvement it was diagnosed as autosomal dominant robinow syndrome. She is now on follow up and planned for a cosmetic surgery to repair facial defects. PMID:26816964

  15. Evaluation of the effects of rehabilitation after surgery using the Ravitch and Nuss methods: a case study.

    PubMed

    Bal-Bocheńska, Monika Anna

    2016-03-01

    Rehabilitation may be helpful in the prevention of complications associated with the treatment of patients with pectus excavatum who are subjected to surgery using the Ravitch and Nuss methods. This paper presents the case of a patient who underwent successful physical rehabilitation after 8 weeks from the surgery using the combined method. As part of the Nuss procedure, two plates were implanted to form a scaffolding for the patient's chest, which had previously been corrected with the Ravitch method. The plates were to be removed after 24 months of treatment. After the procedure, in spite of the favorable cosmetic effect of the repair, there was a significant decrease in the spirometric values and physical fitness of the patient. He underwent an individual physiotherapy program, which lasted four weeks. The streamlining of the respiratory system has significantly improved the spirometric values and raised the overall performance of the patient's organism. PMID:27212987

  16. [Resection of a Subclavian Artery Aneurysm without Dividing the Clavicle;Report of a Case].

    PubMed

    Suzuki, Shuhei; Sogawa, Masakazu; Wakabayashi, Takashi; Nakamura, Norihito

    2016-09-01

    A 57-year-old woman with Marfan syndrome had undergone the surgical treatment for pectus excavatum at 15 years of age. She had since been screened regularly by computed tomography(CT) to detect any vascular diseases. CT demonstrated a left subclavian arterial aneurysm at 55 years of age. It enlarged to a diameter of 32 mm, and surgical treatment was performed. The subclavian artery and the aneurysm were identified by echography in order to locate the exact sites of supraclavicular and subclavicular skin incisions. The subclavian artery aneurysm was resected without dividing the clavicle, and replaced by a vascular graft. Echography is useful for precisely locating a subclavian artery aneurysm, which enables feasible resection without dividing the clavicle. PMID:27586322

  17. Extensión del Formalismo de Orbitales de Defecto Cuántico al tratamiento del efecto Stark (SQDO).

    NASA Astrophysics Data System (ADS)

    Menéndez, J. M.; Martín, I.; Velasco, A. M.

    El estudio experimental de las interacciones de átomos Rydberg altamente excitados con campos eléctricos ha experimentado un creciente interés durante las dos últimas décadas debido, en gran medida, al desarrollo de nuevas técnicas para crear y estudiar átomos Rydberg en el laboratorio. Acompañando a estas nuevas técnicas experimentales, es necesario el desarrollo de modelos teóricos que nos permitan contrastar sus medidas y conocer mejor los fundamentos de los mismos. Desde el punto de vista teórico el conocimiento del desdoblamiento de los niveles energéticos de un átomo en función de la magnitud del campo eléctrico aplicado (lo que se conoce como mapa Stark) es el mejor punto de partida para la descripción del sistema y un prerrequisito fundamental para el cálculo de distintas propiedades atómicas en presencia del campo eléctrico tales como intensidades de transición, umbrales de ionización de campo eléctrico, tiempos de vida, posición y anchura de cruces evitados, etc. En este trabajo presentamos la adaptación del método de orbitales de defecto cuántico [1,2,3] al tratamiento del efecto Stark (SQDO) [4] y su aplicación al cálculo de los desdoblamientos energéticos y fuerzas de oscilador de estados Rydberg en los átomos de Li, Na y K. El propósito de este estudio es, por un lado, desarrollar métodos fiables para la determinación de propiedades atómicas en presencia de campos eléctricos y, por otro, mostrar la fiabilidad de las funciones de onda QDO en la descripción del efecto Stark en sistemas atómicos.

  18. A comprehensive newborn exam: part II. Skin, trunk, extremities, neurologic.

    PubMed

    Lewis, Mary L

    2014-09-01

    Skin findings are common during the newborn examination. Although these findings are often benign, it is important to visualize the entire skin surface to distinguish these findings and appropriately reassure parents. The chest should be observed for symmetric movement, pectus excavatum, pectus carinatum, prominent xiphoid, or breast tissue. The infant should be as relaxed as possible so that the physician can more easily detect any abdominal masses, which are often renal in origin. A single umbilical artery may be associated with another congenital abnormality, especially renal anomalies, and intrauterine growth restriction and prematurity. Signs of ambiguous genitalia include clitoromegaly and fused labia in girls, and bilateral undescended testes, a micropenis, or a bifid scrotum in boys. Sacral dimples do not warrant further evaluation if they are less than 0.5 cm in diameter, are located within 2.5 cm of the anal verge, and are not associated with cutaneous markers; dimples that do not fit these criteria require ultrasonography to evaluate for spinal dysraphism. Brachial plexus injuries are most common in newborns who are large for gestational age, and physical therapy may be required to achieve normal function. Patients with abnormal findings on Ortolani and Barlow maneuvers should be evaluated further for hip dysplasia. It is also important to assess newborns for tone and confirm the presence of normal primitive reflexes. PMID:25251089

  19. Classification of chest wall diseases.

    PubMed

    Pozzi, E; Gulotta, C

    1993-01-01

    Several disorders of the thoracic cage are known to cause respiratory failure, by means of relatively simple mechanisms, such as the increased work of breathing, which results in alveolar hypoventilation. A variety of pathogenic mechanisms may be considered, as functions of the types of thoracic disorders present. As causes of these additional potential mechanisms, we considered the following: 1) ventilation-perfusion (V/Q) inhomogeneity; 2) inability to cough; 3) malformation or acquired defect of the respiratory centres; and 4) excess blood volume and fluid retention, which aggravate work of breathing and V/Q inhomogeneity. All of these disorders can be grouped into two major categories (which nevertheless have some of the pathophysiology in common): the mechanical syndrome and the neuromuscular or paralytic syndrome. In this paper we discuss chest wall diseases falling into the first category; namely, kyphoscoliosis, fibrothorax, thoracoplasty, ankylosing spondylitis and obesity-hypoventilation. Congenital deformities of the thoracic cage, which do not have important effects on ventilatory apparatus (e.g. pectus excavatum and pectus carinatum), were also considered. PMID:8472068

  20. Prognostic factors in multiple myeloma: definition of risk groups in 410 previously untreated patients: a Grupo Argentino de Tratamiento de la Leucemia Aguda study.

    PubMed

    Corrado, C; Santarelli, M T; Pavlovsky, S; Pizzolato, M

    1989-12-01

    Four hundred ten previously untreated multiple myeloma patients entered onto two consecutive Grupo Argentino de Tratamiento de la Leucemia Aguda (GATLA) protocols were analyzed to identify significant prognostic factors influencing survival. The univariate analysis selected the following variables: performance status, renal function, percentage of bone marrow plasma cells at diagnosis, hemoglobin, and age. A multivariate analysis showed that performance status, renal function, percentage of bone marrow plasma cells, hemoglobin, and age were the best predictive variables for survival. A score was assigned to each patient according to these variables, which led to their classification in three groups: good, intermediate, and poor risk, with a probability of survival of 26% and 10% at 96 months, and 5% at 56 months, and median survival of 60, 37, and 14 months, respectively (P = .0000). In our patient population, this model proved to be superior to the Durie-Salmon staging system in defining prognostic risk groups, and separating patients with significantly different risks within each Durie-Salmon stage. PMID:2585023

  1. Tratamiento Quirúrgico de los Meningiomas del Foramen Óptico, Técnicay Resultados de una Serie de 18 Pacientes

    PubMed Central

    Goldschmidt, Ezequiel; Ajler, Pablo; Campero, Álvaro; Landriel, Federico; Sposito, Maximiliano; Carrizo, Antonio

    2014-01-01

    Introducción: los meningiomas del foramen óptico producen un rápido deterioro de la función visual aún cuando su tamaño es pequeño, por eso su diagnóstico y manejo difiere del resto de los meningiomas clinoideos. El propósito de este estudio es presentar la técnica y los resultados de nuestro manejo quirúrgico de meningiomas foraminales (MF). Pacientes y Métodos: se llevó a cabo una revisión de las historias clínicas de 47 pacientes con meningiomas primarios intraorbitarios. Se realizaron 52 cirugías en los pacientes con MF. Se empleó una craneotomía fronto-orbitaria, seguida de una descompresión extradural del canal óptico, resección del componente intraorbitario y exploración intradural del nervio óptico. Resultados: de los 12 pacientes con MF que presentaban la visión conservada, la agudeza visual fue preservada en 7 casos, mejoró en 2, y empeoró en 3. En 18 pacientes, el principal síntoma fue exoftalmos y en 35 pacientes ceguera unilateral. Ocurrieron 6 recurrencias, 2 a 10 años después de la resección quirúrgica. Cinco de ellos fueron reoperados. Se indicó radioterapia después de la recurrencia en 3 pacientes. Conclusión: el manejo de los MF continúa siendo controvertido y frecuentemente se propone un tratamiento conservador. Basados en nuestros hallazgos de frecuente extensión intracraneal, proponemos realizar una resección total o subtotal del tumor, preservando el nervio óptico en pacientes con visión prequirúrgica conservada. PMID:25165616

  2. Epidural versus Patient-Controlled Analgesia after Pediatric Thoracotomy for Malignancy: A Preliminary Review.

    PubMed

    Gonzalez, Katherine W; Dalton, Brian G; Millspaugh, Daniel L; Thomas, Priscilla G; St Peter, Shawn David

    2016-08-01

    Introduction The use of thoracic epidural is standard in adult thoracotomy patients facilitating earlier mobilization, deep breathing, and minimizing narcotic effects. However, a recent randomized trial in pediatric patients who undergo repair of pectus excavatum suggests patient-controlled analgesia (PCA) produces a less costly, minimally invasive postoperative course compared with epidural. Given that thoracotomy is typically less painful than pectus bar placement, we compared the outcomes of epidural to PCA for pain management after pediatric thoracotomy. Methods A retrospective review of 17 oncologic thoracotomies was performed at a children's hospital from 2004 to 2013. Data points included operative details, epidural or PCA use, urinary catheterization, days to regular diet, days to oral pain regimen, postoperative pain scores, length of stay, and anesthesia charges. Patients were excluded if they did not have epidural or PCA following thoracotomy. Results Six thoracotomies were managed with an epidural and 11 with a PCA. Three epidural patients were opiate naïve compared with two with a PCA. The most common indication for thoracotomy was metastatic osteosarcoma (n = 13). When comparing epidural to PCA, there was no significant difference in days to removal of Foley catheter, regular diet, oral pain control, length of stay, or total operating room time. Postoperative pain scores were also comparable. The mean anesthesia charges were significantly higher in patients with an epidural than with a PCA. Conclusion Epidural catheter and PCA provided comparable pain relief and objective recovery course in children who underwent thoracotomy for oncologic disease; however, epidural catheter placement was associated with increased anesthesia charges, suggesting that PCA is a noninvasive, cost-effective alternative. PMID:26018213

  3. Familial interstitial deletion of the short arm of chromosome 4 (p15.33-p16.3) characterized by molecular cytogenetic analysis.

    PubMed

    Basinko, Audrey; Douet-Guilbert, Nathalie; Parent, Philippe; Blondin, Gilles; Mingam, M; Monot, Françoise; Morel, Frédéric; Le Bris, Marie-Josée; De Braekeleer, Marc

    2008-04-01

    This 15-month boy was expressed at the cytogenetic laboratory because of psychomotor development delay. He was tall and had plagiocephaly, micrognathia, high nasal bridge, anteverted nostrils and pectus excavatum. A 46,XY,del(4)(p16.1p16.3) karyotype was found using high-resolution R-banding technique. FISH studies using the LSI Wolf-Hirschhorn dual color 4p16.3 and the TelVysion 4p probes showed no deletion. Using BACs, the distal breakpoint was located in 4p16.3, between RP11-165K4 and RP11-717M10 and the proximal breakpoint in 4p15.33, between RP11-74M11 and RP11-1J7; therefore, approximately 7.96 Mb of the short arm were deleted. The maternal karyotype showed the same deletion, but in a mosaic status. Two distinct phenotypes have been recognized on the basis of the chromosomal bands involved in 4p deletion: the Wolf-Hirschhorn syndrome (WHS) and a proximal 4p deletion syndrome (4p15.2-p15.32). Our observation confirms that the basic WHS phenotype maps distally to this region. PMID:18302281

  4. Generation of heterozygous fibrillin-1 mutant cloned pigs from genome-edited foetal fibroblasts

    PubMed Central

    Umeyama, Kazuhiro; Watanabe, Kota; Watanabe, Masahito; Horiuchi, Keisuke; Nakano, Kazuaki; Kitashiro, Masateru; Matsunari, Hitomi; Kimura, Tokuhiro; Arima, Yoshimi; Sampetrean, Oltea; Nagaya, Masaki; Saito, Masahiro; Saya, Hideyuki; Kosaki, Kenjiro; Nagashima, Hiroshi; Matsumoto, Morio

    2016-01-01

    Marfan syndrome (MFS) is an autosomal dominant genetic disease caused by abnormal formation of the extracellular matrix with an incidence of 1 in 3, 000 to 5, 000. Patients with Marfan syndrome experience poor quality of life caused by skeletal disorders such as scoliosis, and they are at high risk of sudden death from cardiovascular impairment. Suitable animal models of MFS are essential for conquering this intractable disease. In particular, studies employing pig models will likely provide valuable information that can be extrapolated to humans because of the physiological and anatomical similarities between the two species. Here we describe the generation of heterozygous fibrillin-1 (FBN1) mutant cloned pigs (+/Glu433AsnfsX98) using genome editing and somatic cell nuclear transfer technologies. The FBN1 mutant pigs exhibited phenotypes resembling those of humans with MFS, such as scoliosis, pectus excavatum, delayed mineralization of the epiphysis and disrupted structure of elastic fibres of the aortic medial tissue. These findings indicate the value of FBN1 mutant pigs as a model for understanding the pathogenesis of MFS and for developing treatments. PMID:27074716

  5. LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.

    PubMed

    Haji-Seyed-Javadi, Ramona; Jelodari-Mamaghani, Sahar; Paylakhi, Seyed Hassan; Yazdani, Shahin; Nilforushan, Naveed; Fan, Jian-Bing; Klotzle, Brandy; Mahmoudi, Mohammad Jafar; Ebrahimian, Mohammad Jafar; Chelich, Noori; Taghiabadi, Ehsan; Kamyab, Kambiz; Boileau, Catherine; Paisan-Ruiz, Coro; Ronaghi, Mostafa; Elahi, Elahe

    2012-08-01

    Latent transforming growth factor (TGF) beta-binding protein 2 (LTBP2) is an extracellular matrix (ECM) protein that associates with fibrillin-1 containing microfibrils. Various factors prompted considering LTBP2 in the etiology of isolated ectopia lentis and associated conditions such as Weill-Marchesani syndrome (WMS) and Marfan syndrome (MFS). LTBP2 was screened in 30 unrelated Iranian patients. Mutations were found only in one WMS proband and one MFS proband. Homozygous c.3529G>A (p.Val1177Met) was shown to cause autosomal recessive WMS or WM-like syndrome by several approaches, including homozygosity mapping. Light, fluorescent, and electron microscopy evidenced disruptions of the microfibrillar network in the ECM of the proband's skin. In conjunction with recent findings regarding other ECM proteins, the results presented strongly support the contention that anomalies in WMS patients are due to disruptions in the ECM. Heterozygous c.1642C >T (p.Arg548*) possibly contributed to MFS-related phenotypes, including ocular manifestations, mitral valve prolapse, and pectus excavatum, but was not cause of MFS. PMID:22539340

  6. Generation of heterozygous fibrillin-1 mutant cloned pigs from genome-edited foetal fibroblasts.

    PubMed

    Umeyama, Kazuhiro; Watanabe, Kota; Watanabe, Masahito; Horiuchi, Keisuke; Nakano, Kazuaki; Kitashiro, Masateru; Matsunari, Hitomi; Kimura, Tokuhiro; Arima, Yoshimi; Sampetrean, Oltea; Nagaya, Masaki; Saito, Masahiro; Saya, Hideyuki; Kosaki, Kenjiro; Nagashima, Hiroshi; Matsumoto, Morio

    2016-01-01

    Marfan syndrome (MFS) is an autosomal dominant genetic disease caused by abnormal formation of the extracellular matrix with an incidence of 1 in 3, 000 to 5, 000. Patients with Marfan syndrome experience poor quality of life caused by skeletal disorders such as scoliosis, and they are at high risk of sudden death from cardiovascular impairment. Suitable animal models of MFS are essential for conquering this intractable disease. In particular, studies employing pig models will likely provide valuable information that can be extrapolated to humans because of the physiological and anatomical similarities between the two species. Here we describe the generation of heterozygous fibrillin-1 (FBN1) mutant cloned pigs (+/Glu433AsnfsX98) using genome editing and somatic cell nuclear transfer technologies. The FBN1 mutant pigs exhibited phenotypes resembling those of humans with MFS, such as scoliosis, pectus excavatum, delayed mineralization of the epiphysis and disrupted structure of elastic fibres of the aortic medial tissue. These findings indicate the value of FBN1 mutant pigs as a model for understanding the pathogenesis of MFS and for developing treatments. PMID:27074716

  7. Modern CT applications in veterinary medicine.

    PubMed

    Garland, Melissa R; Lawler, Leo P; Whitaker, Brent R; Walker, Ian D F; Corl, Frank M; Fishman, Elliot K

    2002-01-01

    Although computed tomography (CT) is used primarily for diagnosis in humans, it can also be used to diagnose disease in veterinary patients. CT and associated three-dimensional reconstruction have a role in diagnosis of a range of illnesses in a variety of animals. In a sea turtle with failure to thrive, CT showed a nodal mass in the chest, granulomas in the lungs, and a ball in the stomach. CT of a sea dragon with balance and movement problems showed absence of the swim bladder. In a sloth with failure to thrive, CT allowed diagnosis of a coin in the intestine. CT of a puffin with failure to thrive showed a mass in the chest, which was found to be a hematoma. In a smooth-sided toad whose head was tilted to one side and who was circling in that direction, CT showed partial destruction of the temporal bone. CT of a domestic cat with listlessness showed a mass with focal calcification, which proved to be a leiomyosarcoma. CT of a sea otter showed pectus excavatum, which is caused by the animal smashing oysters against its chest. In a Japanese koi with abdominal swelling, CT allowed diagnosis of a hepatoma. PMID:11796898

  8. Patterns of pulmonary perfusion scans in normal subjects

    SciTech Connect

    Wallace, J.M.; Moser, K.M.; Hartman, M.T.; Ashburn, W.L.

    1981-01-01

    A vital factor conditioning the usage of the pulmonary perfusion (Q) scan in the evaluation of patients suspected of pulmonary embolism is the prevalence of abnormal Q scans in subjects free of cardiopulmonary disease. Because this prevalence has not been well defined, we performed Q scans in 80 nonsmoking subjects 18 to 29 yr of age having no known active cardiopulmonary disease. Each subject underwent a history, physical examination, electrocardiogram, spirometry, and PA chest roentgenogram, followed by a 6-view Q scan. Two subjects in whom a Q defect was suspected underwent a /sup 133/Xe equilibrium-washout ventilation (V) scan. All Q scans were interpreted blindly and independently by 2 experienced readers. Seventy-nine of the 80 Q scans were read as normal. No subject demonstrated a lobar or segmental defect. One of the 80 subjects, who had a mild pectus excavatum, had a left upper lobe subsegmental defect, which was not seen on the V scan. Based on the statistical analysis of these data, no more than 3.68% of normal nonsmoking persons in this age group may have a lobar or segmental Q scan defect and no more than 6.77% may have a subsegmental defect (with 95% confidence). Therefore, our study indicated that Q scan defects, particularly lobar or segmental, are rarely present among normal nonsmokers in this age group.

  9. Apparent Ruvalcaba syndrome with genitourinary abnormalities.

    PubMed

    Bialer, M G; Wilson, W G; Kelly, T E

    1989-07-01

    The Ruvalcaba syndrome is a rare malformation syndrome characterized by skeletal dysplasia, facial anomalies, and mental retardation. We report on a 22-year-old woman with severe growth and mental retardation and numerous manifestations characteristic of the Ruvalcaba syndrome. In addition, she has several anomalies not previously described in the Ruvalcaba syndrome, including upslanting palpebral fissures, torus palatinus, hiatal hernia with gastroesophageal reflux, recurrent respiratory infections, pectus excavatum, equinovarous deformity, hypotonia, unilateral renal hypoplasia, an accessory ovary, and atretic fallopian tube. Review of published reports of Ruvalcaba syndrome confirms variability of the clinical and radiographic changes. Findings present in at least 50% of reported patients include mental retardation, short stature, pubertal delay, an abnormal nose (usually beaked) with hypoplastic nasal alae, microstomia with narrow maxilla, thin upper lip vermilion, broad hips, small hands, joint limitation, short fingers and toes, and vertebral abnormalities. Because 5 of the reported patients had renal abnormalities, a renal ultrasound or contrast study is indicated in the evaluation of these patients. Additional reports, particular from multiplex families, will be important to better characterize this syndrome. PMID:2679089

  10. Normalized mean shapes and reference index values for computerized quantitative assessment indices of chest wall deformities

    NASA Astrophysics Data System (ADS)

    Kim, Ho Chul; Park, Man Sik; Lee, Seong Keon; Nam, Ki Chang; Park, Hyung Joo; Kim, Min Gi; Song, Jae-Jun; Choi, Hyuk

    2015-11-01

    We previously proposed a computerized index (eccentricity index [EI]) for chest-wall deformity measurements, such as pectus excavatum. We sought to define mean shapes based on normal chest walls and to propose for computerized index reference values of that are used in the quantitative analysis of the severity of chest-wall deformities. A total of 584 patients were classified into 18 groups, and a database of their chest-wall computed tomography (CT) scan images was constructed. The boundaries of the chest wall were extracted by using a segmentation algorithm, and the mean shapes were subsequently developed. The reference index values were calculated from the developed mean shapes. Reference index values for the EI were compared with a conventional index, the Haller index (HI). A close association has been shown between the two indices in multiple subjects (r = 0.974, P < 0.001). The newly developed mean shapes and reference index values supply both reliability and objectivity to the diagnosis, analysis, and treatment of chest-wall deformities. They promise to be highly useful in clinical settings.

  11. Epidural and opioid analgesia following the Nuss procedure

    PubMed Central

    Walaszczyk, Malgorzata; Knapik, Piotr; Misiolek, Hanna; Korlacki, Wojciech

    2011-01-01

    Summary Background Parents have the right to decide on behalf of their children and deny consent to regional anaesthesia. The investigators decided to investigate quality of postoperative analgesia in adolescents undergoing epidural and opioid analgesia following the Nuss procedure. Material/Methods The study subjects were 61 adolescents aged 11–18 years who underwent pectus excavatum repair with the Nuss procedure. Patients were divided into epidural (n=41) and opioid (n=20) groups, depending on their parents’ consent to epidural catheter insertion. Intraoperatively, 0.5% epidural ropivacaine with fentanyl or intermittent intravenous injections of fentanyl were used. Postoperative analgesia was achieved with either epidural infusion of 0.1% ropivacaine with fentanyl, or subcutaneous morphine via an intraoperatively inserted “butterfly” cannula. Additionally, both groups received metamizol and paracetamol. Primary outcome variables were postoperative pain scores (Numeric Rating Scale and Prince Henry Hospital Pain Score). Secondary outcome variables included hemodynamic parameters, additional analgesia and side effects. Results Heart rate and blood pressure values in the postoperative period were significantly higher in the opioid group. Pain scores requiring intervention were noted almost exclusively in the opioid group. Conclusions Denial of parental consent to epidural analgesia following the Nuss procedure results in significantly worse control of postoperative pain. Our data may be useful when discussing with parents the available anaesthetic techniques for exceptionally painful procedures. PMID:22037752

  12. A t(5;16)(p15.32;q23.3) generating 16q23.3 --> qter duplication and 5p15.32 --> pter deletion in two siblings with mental retardation, dysmorphic features, and speech delay.

    PubMed

    Hellani, Ali; Mohamed, Sarar; Al-Akoum, Siham; Bosley, Thomas M; Abu-Amero, Khaled K

    2010-06-01

    We report on two siblings (half brothers on the paternal side) with a syndrome consisting of delayed development, cardiac anomalies, chest deformity, hip rotation, metatarsus adductus, genital hypoplasia, dysmorphic face, depressed nasal bridge, mental retardation, and speech delay. All metaphases examined showed a normal karyotype in the patients, their father, and both mothers. High-resolution array CGH examination revealed a 16q (6 Mb) duplication dup(16)(16q23.3 --> 16qter) and a 5p (0.97 Mb) terminal deletion del(5)(p15.32 --> pter) in both affected boys but not their healthy siblings or parents. Interphase fluorescence in situ hybridization (FISH) confirmed both the 16q duplicated region and the 5p terminal deletion. Clinical abnormalities in the patients included thin upper lip, clinodactyly, and foot deformity, which were reported previously with duplications in 16q23.3. Pectus excavatum, hip rotation, metatarsus adductus, umbilical hernia, brachycephaly, and esotropia were not reported previously in chromosome 16q duplications but may be features that occur intermittently. The 5p deleted region has been associated previously only with speech delay, which was present in both patients. These patients display certain phenotypic characteristics not reported previously in 16q duplication and confirm 5p terminal deletion as an important chromosome anomaly for speech delay. PMID:20503335

  13. Nuss procedure: Technical modifications to ease bending of the support bar and lateral stabilizer placement

    PubMed Central

    Karakuş, Osman Zeki; Ulusoy, Oktay; Hakgüder, Gülce; Ateş, Oğuz; Olguner, Çimen; Olguner, Mustafa; Akgür, Feza Mirac

    2016-01-01

    BACKGROUND: Modifications defined to ease bending of the support bar and lateral stabilizer placement during minimal invasive repair of pectus excavatum (MIRPE) have not been reported. We herein report our experience with MIRPE including several technical modifications. METHODS: A total of 87 patients who underwent MIRPE were evaluated retrospectively. Technical modifications are (1) a template drawn preoperatively according to the anthropometric measurements, (2) more laterally placed thoracal incisions, (3) single existing incision for multiple support bars, (4) to secure lateral stabilizers to support bar in inverted position. RESULTS: The mean patient age was 11.2 ± 3.8 years. The mean operating time was 63.7 ± 18.7 min. The mean Haller index was 5.4 ± 2.1. Eight patients necessitated two support bars. The support bars were removed in 69 patients after the completion of treatment. Support bars were left in place 26.8 ± 4.3 months. Final chest contours of the 56 patients were evaluated as 12 months passed after support bar removal and excellent repair results were determined in 84.2%. CONCLUSION: Preoperative bending of the support bar according to anthropometric measurements and fixation of the lateral stabilizers to the support bar in inverted position facilitates bar shaping and lateral stabilizer placement. PMID:27512512

  14. Recurrent duplications of 17q12 associated with variable phenotypes.

    PubMed

    Mitchell, Elyse; Douglas, Andrew; Kjaegaard, Susanne; Callewaert, Bert; Vanlander, Arnaud; Janssens, Sandra; Yuen, Amy Lawson; Skinner, Cindy; Failla, Pinella; Alberti, Antonino; Avola, Emanuela; Fichera, Marco; Kibaek, Maria; Digilio, Maria C; Hannibal, Mark C; den Hollander, Nicolette S; Bizzarri, Veronica; Renieri, Alessandra; Mencarelli, Maria Antonietta; Fitzgerald, Tomas; Piazzolla, Serena; van Oudenhove, Elke; Romano, Corrado; Schwartz, Charles; Eichler, Evan E; Slavotinek, Anne; Escobar, Luis; Rajan, Diana; Crolla, John; Carter, Nigel; Hodge, Jennelle C; Mefford, Heather C

    2015-12-01

    The ability to identify the clinical nature of the recurrent duplication of chromosome 17q12 has been limited by its rarity and the diverse range of phenotypes associated with this genomic change. In order to further define the clinical features of affected patients, detailed clinical information was collected in the largest series to date (30 patients and 2 of their siblings) through a multi-institutional collaborative effort. The majority of patients presented with developmental delays varying from mild to severe. Though dysmorphic features were commonly reported, patients do not have consistent and recognizable features. Cardiac, ophthalmologic, growth, behavioral, and other abnormalities were each present in a subset of patients. The newly associated features potentially resulting from 17q12 duplication include height and weight above the 95th percentile, cataracts, microphthalmia, coloboma, astigmatism, tracheomalacia, cutaneous mosaicism, pectus excavatum, scoliosis, hypermobility, hypospadias, diverticulum of Kommerell, pyloric stenosis, and pseudohypoparathryoidism. The majority of duplications were inherited with some carrier parents reporting learning disabilities or microcephaly. We identified additional, potentially contributory copy number changes in a subset of patients, including one patient each with 16p11.2 deletion and 15q13.3 deletion. Our data further define and expand the clinical spectrum associated with duplications of 17q12 and provide support for the role of genomic modifiers contributing to phenotypic variability. PMID:26420380

  15. [Prune-Belly Syndrome: a case report].

    PubMed

    Tattoli, Fabio; De Prisco, Ornella; Gherzi, Maurizio; Falconi, Daniela; Marazzi, Federico; Marengo, Marita; Serra, Ilaria; Tamagnone, Michela; Formica, Marco

    2014-01-01

    Prune-Belly Syndrome (PBS) is a rare congenital syndrome characterized by the absence of abdominal muscles, anomalies in the urinary tract, megaureter, cryptorchidism or testicular agenesis, hypertension and worsening chronic kidney disease (CKD). The incidence is estimated between 1 out of 35,000 and 1 out of 50,000 born alive, and it affects males in prevalence (97%). In the present study we describe the case of a 38 year old male patient (followed since May 2011) affected by PBS, CKD, one functional kidney at the scintigraphy, pediatric testicular implants, bladder surgery and correction of pectus excavatum. At the beginning of the observation, renal function was deteriorated, with a creatinine 3.3 mg/dl, GFR calculated at MDRD 23 ml/min, proteinuria in nephrotic range (4 g/day), high blood pressure, anemia and hyperparathyroidism. In the following examinations renal function framework worsened, despite the adoption of a low-protein diet. Due to the functional trend, the patient was prescribed hemodialysis as substitute treatment. In January 2013 a first attempt of artero-venous fistula (AVF) did not succeed, while a new AVF in March 2013 resulted effective. In July hemodialysis was started. In the future, we expect to insert the patient in the Kidney Transplant List (since surgical feasibility has already been positively evaluated). Our case is quite peculiar due to the late beginning of substitute treatment. Further, SPB represents a challenge that, in the absence of a prompt and effective treatment, inevitably it leads to terminal uremia; nevertheless, given a proper treatment, a transplant with good chances of success can be envisaged. PMID:25030009

  16. Impact of Epidural Failures on the Results of a Prospective, Randomized Trial.

    PubMed

    Desai, Amita; Alemayehu, Hanna; Weesner, Kathryn A; St Peter, Shawn D

    2016-04-01

    Introduction We conducted a prospective randomized trial to evaluate the merits of two established postoperative pain management strategies: thoracic epidural (EPI) versus patient-controlled analgesia (PCA) with intravenous narcotics after minimally invasive repair of pectus excavatum. Pain scores favored the EPI group for the first two postoperative days only. Critics of the trial suggest that if the epidural failure rate was not so high, results may have favored the EPI group. Therefore, we performed a subset analysis of the EPI group to evaluate the impact of these failures. Methods Patients for whom epidural catheter could not be placed or whose catheters were removed early owing to dysfunction were compared with those with well-functioning catheters. Those with well-functioning catheters were also compared with the PCA group. A two-tailed independent Student t-test and a two-tailed Fisher exact test were used where appropriate. Results Of 55 patients in the EPI group, 12 patients (21.8%) had failed placement or required early removal. Comparing those with failed placements with the rest of the group, there was no difference in daily visual analogue scale pain scores or measures of hospital course. Likewise, comparing those with well-functioning catheters only to those in the PCA group, the results of the trial are replicated in terms of pain scores, hospital course, and length of stay. Conclusion In patients with failed epidural therapy, there is no significant difference in postoperative hospital course. Comparing those with well-functioning catheters to those in the PCA group, trial results are replicated-that is, no significant difference in length of stay, time to regular diet, or time to transition to oral medications. Therefore, failure rate in the EPI group did not influence the results of the trial. PMID:25643246

  17. Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

    PubMed

    Klaassens, Merel; Morrogh, Deborah; Rosser, Elisabeth M; Jaffer, Fatima; Vreeburg, Maaike; Bok, Levinus A; Segboer, Tim; van Belzen, Martine; Quinlivan, Ros M; Kumar, Ajith; Hurst, Jane A; Scott, Richard H

    2015-05-01

    De novo monoallelic variants in NFIX cause two distinct syndromes. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype that we propose is referred to as Malan syndrome. Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall-Smith syndrome. We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported. The phenotype is characterised by moderate postnatal overgrowth and macrocephaly. Median height and head circumference in childhood are 2.0 and 2.3 standard deviations (SD) above the mean, respectively. There is overlap of the facial phenotype with NSD1-positive Sotos syndrome in some cases including a prominent forehead, high anterior hairline, downslanting palpebral fissures and prominent chin. Neonatal feeding difficulties and/or hypotonia have been reported in 30% of patients. Developmental delay/learning disability have been reported in all cases and are typically moderate. Ocular phenotypes are common, including strabismus (65%), nystagmus (25% ) and optic disc pallor/hypoplasia (25%). Other recurrent features include pectus excavatum (40%) and scoliosis (25%). Eight reported patients have a deletion also encompassing CACNA1A, haploinsufficiency of which causes episodic ataxia type 2 or familial hemiplegic migraine. One previous case had episodic ataxia and one case we report has had cyclical vomiting responsive to pizotifen. In individuals with this contiguous gene deletion syndrome, awareness of possible later neurological manifestations is important, although their penetrance is not yet clear. PMID:25118028

  18. Reversal of childhood idiopathic scoliosis in an adult, without surgery: a case report and literature review

    PubMed Central

    2009-01-01

    Background Some patients with mild or moderate thoracic scoliosis (Cobb angle <50-60 degrees) suffer disproportionate impairment of pulmonary function associated with deformities in the sagittal plane and reduced flexibility of the spine and chest cage. Long-term improvement in the clinical signs and symptoms of childhood onset scoliosis in an adult, without surgical intervention, has not been documented previously. Case presentation A diagnosis of thoracic scoliosis (Cobb angle 45 degrees) with pectus excavatum and thoracic hypokyphosis in a female patient (DOB 9/17/52) was made in June 1964. Immediate spinal fusion was strongly recommended, but the patient elected a daily home exercise program taught during a 6-week period of training by a physical therapist. This regime was carried out through 1992, with daily aerobic exercise added in 1974. The Cobb angle of the primary thoracic curvature remained unchanged. Ongoing clinical symptoms included dyspnea at rest and recurrent respiratory infections. A period of multimodal treatment with clinical monitoring and treatment by an osteopathic physician was initiated when the patient was 40 years old. This included deep tissue massage (1992-1996); outpatient psychological therapy (1992-1993); a daily home exercise program focused on mobilization of the chest wall (1992-2005); and manipulative medicine (1994-1995, 1999-2000). Progressive improvement in chest wall excursion, increased thoracic kyphosis, and resolution of long-standing respiratory symptoms occurred concomitant with a >10 degree decrease in Cobb angle magnitude of the primary thoracic curvature. Conclusion This report documents improved chest wall function and resolution of respiratory symptoms in response to nonsurgical approaches in an adult female, diagnosed at age eleven years with idiopathic scoliosis. PMID:20003501

  19. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

    PubMed

    Gripp, Karen W; Aldinger, Kimberly A; Bennett, James T; Baker, Laura; Tusi, Jessica; Powell-Hamilton, Nina; Stabley, Deborah; Sol-Church, Katia; Timms, Andrew E; Dobyns, William B

    2016-09-01

    Noonan syndrome is a rasopathy caused by mutations in multiple genes encoding components of the RAS/MAPK pathway. Despite its variable phenotype, limited genotype-phenotype correlations exist. Noonan syndrome with loose anagen hair (NS-LAH) is characterized by its distinctive hair anomalies, developmental differences, and structural brain abnormalities and is caused by a single recurrent missense SHOC2 mutation. SHOC2 forms a complex with protein phosphatase 1 (PP1C). Protein phosphatases counterbalance kinases and control activation of signaling proteins, such as the mitogen-activated protein kinases of the RAS/MAPK pathway. Here we report four patients with de novo missense mutations in protein phosphatase one catalytic subunit beta (PPP1CB), sharing a recognizable phenotype. Three individuals had the recurrent PPP1CB c.146G>C, p.Pro49Arg mutation, the fourth had a c.166G>C, p.Ala56Pro change. All had relative or absolute macrocephaly, low-set and posteriorly angulated ears, and developmental delay. Slow growing and/or sparse hair and/or an unruly hair texture was present in all. Three individuals had feeding difficulties requiring feeding tubes. One of two males had cryptorchidism, another had pectus excavatum. Short stature was present in three. A female with the recurrent mutation had a Dandy-Walker malformation and optic nerve hypoplasia. Mild ventriculomegaly occurred in all, cerebellar tonsillar ectopia was seen in two and progressed to Chiari 1 malformation in one individual. Based on the combination of phenotypic findings and PPP1CB's effect on RAF dephosphorylation within the RAS/MAPK pathway, this novel condition can be considered a rasopathy, most similar to NS-LAH. Collectively, these mutations meet the standardized criteria for pathogenicity. © 2016 Wiley Periodicals, Inc. PMID:27264673

  20. Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature

    PubMed Central

    Klaassens, Merel; Morrogh, Deborah; Rosser, Elisabeth M; Jaffer, Fatima; Vreeburg, Maaike; Bok, Levinus A; Segboer, Tim; van Belzen, Martine; Quinlivan, Ros M; Kumar, Ajith; Hurst, Jane A; Scott, Richard H

    2015-01-01

    De novo monoallelic variants in NFIX cause two distinct syndromes. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype that we propose is referred to as Malan syndrome. Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall–Smith syndrome. We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported. The phenotype is characterised by moderate postnatal overgrowth and macrocephaly. Median height and head circumference in childhood are 2.0 and 2.3 standard deviations (SD) above the mean, respectively. There is overlap of the facial phenotype with NSD1-positive Sotos syndrome in some cases including a prominent forehead, high anterior hairline, downslanting palpebral fissures and prominent chin. Neonatal feeding difficulties and/or hypotonia have been reported in 30% of patients. Developmental delay/learning disability have been reported in all cases and are typically moderate. Ocular phenotypes are common, including strabismus (65%), nystagmus (25% ) and optic disc pallor/hypoplasia (25%). Other recurrent features include pectus excavatum (40%) and scoliosis (25%). Eight reported patients have a deletion also encompassing CACNA1A, haploinsufficiency of which causes episodic ataxia type 2 or familial hemiplegic migraine. One previous case had episodic ataxia and one case we report has had cyclical vomiting responsive to pizotifen. In individuals with this contiguous gene deletion syndrome, awareness of possible later neurological manifestations is important, although their penetrance is not yet clear. PMID:25118028

  1. Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation

    PubMed Central

    Xin, Baozhong; Puffenberger, Erik G.; Turben, Susan; Tan, Haiyan; Zhou, Aimin; Wang, Heng

    2009-01-01

    We identified an autosomal recessive condition in 11 individuals in the Old Order Amish of northeastern Ohio. The syndrome was characterized by distinctive craniofacial dysmorphism, skeletal anomalies, and mental retardation. The typical craniofacial dysmorphism included brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel deformity of scapula, fusion of spine, rib abnormities, pectus excavatum, and pes planus represented skeletal anomalies. The genome-wide homozygosity mapping using six affected individuals localized the disease gene to a 3.3-Mb region on chromosome 1q23.3-q24.1. Candidate gene sequencing identified a homozygous frameshift mutation, c.139_140delAG, in the transmembrane and coiled-coil domains 1 (TMCO1) gene, as the pathogenic change in all affected members of the extended pedigree. This mutation is predicted to result in a severely truncated protein (p.Ser47Ter) of only one-fourth the original length. The TMCO1 gene product is a member of DUF841 superfamily of several eukaryotic proteins with unknown function. The gene has highly conserved amino acid sequence and is universally expressed in all human tissues examined. The high degree of conservation and the ubiquitous expression pattern in human adult and fetal tissues suggest a critical role for TMCO1. This report shows a TMCO1 sequence variant being associated with a genetic disorder in human. We propose “TMCO1 defect syndrome” as the name of this condition. PMID:20018682

  2. Randomized trial of epidural vs. subcutaneous catheters for managing pain after modified Nuss in adults

    PubMed Central

    Temkit, M’hamed; Ewais, MennatAllah M.; Luckritz, Todd C.; Stearns, Joshua D.; Craner, Ryan C.; Gaitan, Brantley D.; Ramakrishna, Harish; Thunberg, Christopher A.; Weis, Ricardo A.; Myers, Kelly M.; Merritt, Marianne V.; Rosenfeld, David M.

    2016-01-01

    Background Minimally invasive repair of pectus excavatum (MIRPE) is now performed in adults. Managing adult patients’ pain postoperatively has been challenging due to increased chest wall rigidity and the pressure required for supporting the elevated sternum. The optimal pain management regimen has not been determined. We designed this prospective, randomized trial to compare postoperative pain management and outcomes between thoracic epidural analgesia (TEA) and bilateral subcutaneous infusion pump catheters (On-Q). Methods Patients undergoing MIRPE (modified Nuss) underwent random assignment to TEA or On-Q group. Both groups received intravenous, patient-controlled opioid analgesia, with concomitant delivery of local anesthetic. Primary outcomes were length of stay (LOS), opioid use, and pain scores. Results Of 85 randomly assigned patients, 68 completed the study [52 men, 76.5%; mean (range) age, 32.2 (20.0–58.0) years; Haller index, 5.9 (range, 3.0-26.7)]. The groups were equally matched for preoperative variables; however, the On-Q arm had more patients (60.3%). No significant differences were found between groups in mean daily pain scores (P=0.52), morphine-equivalent opioid usage (P=0.28), or hospital stay 3.5 vs. 3.3 days (TEA vs. On-Q; P=0.55). Thirteen patients randomized to TEA refused the epidural and withdrew from the study because they perceived greater benefit of the On-Q system. Conclusions Postoperative pain management in adults after MIRPE can be difficult. Both continuous local anesthetic delivery by TEA and On-Q catheters with concomitant, intravenous, patient-controlled anesthesia maintained acceptable analgesia with a reasonable LOS. In our cohort, there was preference for the On-Q system for pain management.

  3. Como Lo Hago Yo: Tratamiento Quirurgico Del Mielomeningocele

    PubMed Central

    Portillo, Santiago

    2014-01-01

    En Argentina hay plan de fortificación con ácido fólico. Diagnostico prenatal no siempre es correcto. Cierre según técnica. Cerramos músculo. No favorecemos corpectomía temprana en casos de cifosis. Suturamos la plaqueta. Cerramos el plano muscular. Hidrocefalia: Válvula de derivación, generalmente dentro de los dos primeros meses. Ventriculostomía no está indicada. Chiari II. Laminectomia cervical alta. Siringomielia: Derivación desde la cavidad al peritoneo. PMID:24791219

  4. Chromosome 10q tetrasomy: First reported case

    SciTech Connect

    Blackston, R.D.; May, K.M.; Jones, F.D.

    1994-09-01

    While there are several reports of trisomy 10q (at least 35), we are not aware of previous cases of 10q tetrasomy. We present what we believe to be the initial report of such a case. R.J. is a 6 1/2 year old white male who presented with multiple dysmorphic features, marked articulation problems, hyperactivity, and developmental delays. He is the product of a term uncomplicated pregnancy. There was a normal spontaneous vaginal delivery with a birth weight of 6 lbs. 4oz. and length was 19 1/2 inch. Dysmorphic features include small size, an asymmetrically small head, low set ears with overfolded helixes, bilateral ptosis, downslanting eyes, right eye esotropia, prominent nose, asymmetric facies, high palate, mild pectus excavatum deformity of chest, and hyperextensible elbow joints. The patient is in special needs classes for mildly mentally handicapped students. Chromosome analysis at a resolution of 800 bands revealed a complex rearrangement of chromosomes 10 and 11. The segment 10q25.3 to q16.3 appears to be inverted and duplicated within the long arm of chromosome 10 at band q25.3 and the same segment of chromosome 10 is present on the terminal end of the short arm of chromosome 11. There is no visible loss of material from chromosome 11. Fluorescence in situ hybridization was performed with a chromosome 10 specific {open_quotes}paint{close_quotes} to confirm that all of the material on the abnormal 10 and the material on the terminal short arm of 11 was from chromosome 10. Thus, it appears that the segment 10q25.3 to q26.3 is present in four copies. Parental chromosome studies are normal. We compared findings which differ in that the case of 10q tetrasomy did not have prenatal growth deficiency, microphthalmia, cleft palate, digital anomalies, heart, or renal defects. Whereas most cases of 10q trisomy are said to have severe mental deficiency, our case of 10q tetrasomy was only mildly delayed. We report this first apparent cited case of 10q tetrasomy.

  5. Prevalence of Olfactory and Other Developmental Anomalies in Patients with Central Hypogonadotropic Hypogonadism

    PubMed Central

    Della Valle, Elisa; Vezzani, Silvia; Rochira, Vincenzo; Granata, Antonio Raffaele Michele; Madeo, Bruno; Genovese, Elisabetta; Pignatti, Elisa; Marino, Marco; Carani, Cesare; Simoni, Manuela

    2013-01-01

    Introduction: Hypogonadotropic hypogonadism (HH) is a heterogeneous disease caused by mutations in several genes. Based on the presence of hyposmia/anosmia it is distinguished into Kallmann syndrome (KS) and isolated HH. The prevalence of other developmental anomalies is not well established. Methods: We studied 36 patients with HH (31 males, 5 females, mean age 41.5), 9 with familial and 27 with sporadic HH (33 congenital, 3 adult-onset), by physical examination, smell test (BSIT Sensonics), audiometry, renal ultrasound, and magnetic resonance imaging of the olfactory structures. Results: Based on the smell test, patients were classified as normosmic (n = 21, 58.3%) and hypo/anosmic (n = 15, 41.6%). Hypoplasia/agenesis of olfactory bulbs was found in 40% of patients (10/25; 75% hypo/anosmic, 7.6% normosmic, p < 0.01, Fisher’s test). Remarkably, olfactory structures were normal in two anosmic patients, while one normosmic patient presented a unilateral hypoplastic bulb. Fourteen of 33 patients (42.4%) presented neurosensorial hearing loss of various degrees (28.5% hypo/anosmic, 52.6% normosmic, p = NS). Renal ultrasound revealed 27.7% of cases with renal anomalies (26.6% hypo/anosmic, 28.5% normosmic, p = NS). At least one midline defect was found in 50% of the patients (53.3% hypo/anosmic, 47.6% normosmic, p = NS), including abnormal palate, dental anomalies, pectus excavatum, bimanual synkinesis, iris coloboma, and absent nasal cartilage. Anamnestically 4/31 patients reported cryptorchidism (25% hypo/anosmic, 5.2% normosmic, p = NS). Conclusion: Hypo/anosmia is significantly related to anatomical anomalies of the olfactory bulbs/tracts but the prevalence of other developmental anomalies, especially midline defects and neurosensorial hearing loss, is high both in HH and KS and independent of the presence of anosmia/hyposmia. From the clinical standpoint KS and normosmic HH should be considered as the same complex, developmental

  6. Tratamiento del cáncer sin daño al corazón

    Cancer.gov

    Investigadores de los campos de oncología y de cardiología están trabajando para encontrar formas de impedir, manejar y posiblemente aun revertir los efectos secundarios cardiovasculares de ciertas terapias del cáncer.

  7. La espiritualidad en el tratamiento del cáncer (PDQ®)—Versión para pacientes

    Cancer.gov

    Resumen de información revisada por expertos acerca de la influencia que tiene la espiritualidad y la religión en las personas que tienen cáncer. Se discuten varios métodos sobre manejo e intervención.

  8. Innovative manure treatments in the USA – state of the art (Tratamientos Innovadores de estiercoles en USA - estado del arte)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Currently, the potential impact of manure on the environment represents one of the world agriculture’s major challenges. Treatment technologies can play an important role in the management of livestock manure by providing a more flexible approach to land application and acreage limitations and by so...

  9. Hacia una adaptación cultural para el tratamiento de trastornos alimentarios en latinos en Estados Unidos

    PubMed Central

    Reyes-Rodríguez, Mae Lynn; Bulik, Cynthia M.

    2011-01-01

    Eating disorders affect all ethnic and socioeconomic groups. However, evidence based treatments for eating disorders have been developed and tested exclusively on Caucasian populations. With the purpose to develop a culturally sensitive framework for the eating disorders treatment in Latinos/as, the objectives of this work were: 1) identify and describe some of the relevant cultural elements for eating disorders in the Latino population and, 2) to draft a culturally sensitive intervention model for eating disorders in Latino population in the United States. Providing culturally sensitive treatments for Latinos with psychiatric disorders is essential to reverse public health disparities. PMID:22003472

  10. La espiritualidad en el tratamiento del cáncer (PDQ®)—Versión para profesionales de salud

    Cancer.gov

    Resumen de información revisada por expertos acerca de la influencia que tiene la espiritualidad y la religión en las personas que tienen cáncer. Se discuten varios métodos sobre manejo e intervención.

  11. New evidence on a cold case: trophic transmission, distribution and host-specificity in Hedruris spinigera (Nematoda: Hedruridae).

    PubMed

    Luque, José L; Vieira, Fabiano M; Herrmann, Kristin; King, Tania M; Poulin, Robert; Lagrue, Clément

    2010-09-01

    The life cycle of Hedruris spinigera Baylis, 1931 (Nematoda: Hedruridae) is determined here with the first formal identification of the parasite's intermediate host: the crustacean amphipod Paracorophium excavatum Thomson. Adult H. spinigera are redescribed from specimens collected from the stomach of fishes, Retropinna retropinna (Richardson) and Aldrichettaforsteri (Valenciennes), from Lake Waihola, New Zealand. Immature adults of the parasite collected from intermediate hosts (P. excavatum) are also described for the first time. The prevalence, abundance and intensity of infection of H. spinigera in several fish species are quantified along with the occurrence of P. excavatum, the parasite's intermediate host, in fish stomach contents. Although H. spinigera's transmission mode (trophic transmission) and fish diet potentially expose all fish species to infection, some level of host specificity must exist as parasite prevalence, abundance and intensity of infection vary greatly between potential definitive host species. We suggest here that the anatomy of the fish digestive tract and especially that of the stomach plays an important role in host suitability for H. spinigera. While P. excavatum is the only intermediate host in Lake Waihola, H. spinigera was found in six different fish species: Aldrichetta forsteri, Galaxias maculatus (Jenyns), Retropinna retropinna, Rhombosolea retiaria Hutton, Perca fluviatilis Linnaeus and Salmo trutta Linnaeus; although typical hedrurid attachment and mating positions were observed only in R. retropinna and A. forsteri. The limited distribution of H. spinigera is most likely due to that of its different host species (intermediate and definitive), all inhabitants of coastal fresh and brackish waters. PMID:20941914

  12. Los pronombres de cortesia: su tratamiento en espanol y en otros idiomas, El adverbio (Pronouns of Courtesy: Their Treatment in Spanish and Other Languages, the Adverbs)

    ERIC Educational Resources Information Center

    Criado de Val, Manuel

    1973-01-01

    Compares use of pronouns and adverbs in Spanish, French, Italian, Portuguese, English, German, Rumanian, and Slavic languages. Excerpted from the book Fisonomia del y de las lenguas modernas'' ( Features of Modern Languages''). (DS)

  13. Testing road surface treatments to reduce erosion in forest roads in Honduras [Tratamientos de la superficie de rodadura para reducir la erosion en caminos forestales en Honduras

    USGS Publications Warehouse

    Rivera, Samuel; Kershner, Jeffrey L.; Keller, Gordon R.

    2009-01-01

    Testing road surface treatments to reduce erosion in forest roads in Honduras. Cien. Inv. Agr. 36(3):425-432. Using forest roads produces more erosion and sedimentation than any other forest or agricultural activity. This study evaluated soil losses from a forest road in central Honduras over two consecutive years. We divided a 400-m segment of road into 8 experimental units, each 50 m in length. Four units were treated with Best Management Practices (BMPs) and four were left untreated. The BMP treatments included reshaping the road prism, installing culverts and reshaping of road ditches, compacting 20-cm layers of the road tread, crowning the road surface (3% slope, double drainage), longitudinal sloping (less than 12%), and adding a 10-cm layer of gravel (crush size = 0.63 cm). Soil movement was measured daily during the rainy seasons. The highest soil loss occurred in the control road, around 500 m3 km-1 per year, while the road treated with BMP lost approximately 225 m3km-1 per year. These results show that road surface erosion can be reduced up to 50% with the implementation of surface treatments.

  14. Late Holocene Bottom Water Temperature Variations from the Herald Canyon, western Chukchi Sea

    NASA Astrophysics Data System (ADS)

    Barrientos, N.; Coxall, H.; Lear, C. H.; Jakobsson, M.; O'Regan, M.; Pearce, C.; Stranne, C.; Muschitiello, F.; Koshurnikov, A.

    2015-12-01

    We present coupled stable isotope and trace metal records in benthic foraminifera to investigate the variability in past bottom water temperatures (BWT) from Core SWERUS-L2-2-PC1 (8.28 m) collected during the SWERUS-C3 Leg 2 Expedition in 2014. The core was retrieved at 71.7 m water depth from the Herald Trough, western Chukchi Sea. Radiocarbon dates revealed late Holocene linear sedimentation rates allowing the study of the core in high resolution. Preliminary Mg/Ca ratios in Nonionella labradorica and Elphidium excavatum clavatum with paired stable isotopes in Elphidium excavatum clavatum show a shift to either warmer or fresher bottom waters at around 2000-1800 years BP that suggests changes in the Pacific freshwater input via the Bering Strait.

  15. Interaction between ticks (Acari: Ixodidae) and pathogenic nematodes (Nematoda): susceptibility of tick species at various developmental stages.

    PubMed

    Samish, M; Alekseev, E; Glazer, I

    1999-11-01

    The virulence of entomopathogenic nematodes (Steinernematidae and Heterorhabditidae) to tick species under laboratory conditions is reported. The susceptibility of larval, nymphal, and adult stages of the ticks Hyalomma excavatum (Koch), Rhipicephalus bursa (Canestrini & Fanz), and R. sanguineus (Latereille) to 2 strains of Steinernema carpocapsae and 3 strains of Heterorhabditis bacteriophora were compared in laboratory assays. Preimaginal stages of ticks were found to be more resistant to the nematodes than were adult ticks which exhibited 80-100% mortality in a dish containing 5,000 infective juveniles of H. bacteriophora IS-3 or IS-5 strains isolated in Israel. These 2 strains were found to be much more virulent to unfed adult ticks than were the other isolates. No marked difference was found between engorged ticks and unfed adults of R. sanguineus or H. excavatum in terms of mortality, whereas engorged males and unfed females of R. bursa were significantly more susceptible than unfed males or engorged females. PMID:10593074

  16. [Treatment of type 2 diabetes mellitus in patients with chronic kidney disease. Grupo de Trabajo para el Documento de Consenso sobre el tratamiento de la diabetes tipo 2 en el paciente con enfermedad renal crónica].

    PubMed

    Gómez-Huelgas, Ricardo; Martínez-Castelao, Alberto; Artola, Sara; Górriz, José Luis; Menéndez, Edelmiro

    2014-01-21

    Chronic kidney disease (CKD) and type 2 diabetes mellitus (T2DM) are highly prevalent chronic diseases, which represent an important public health problem and require a multidisciplinary management. T2DM is the main cause of CKD and it also causes a significant comorbidity with regard to non-diabetic nephropathy. Patients with diabetes and kidney disease represent a special risk group as they have higher morbi-mortality as well as higher risk of hypoglycemia than diabetic individuals with a normal kidney function. Treatment of T2DM in patients with CKD is controversial because of the scarcity of available evidence. The current consensus report aims to ease the appropriate selection and dosage of antidiabetic treatments as well as the establishment of safety objectives of glycemic control in patients with CKD. PMID:24268912

  17. Primary angioplasty vs. fibrinolysis in very old patients with acute myocardial infarction: TRIANA (TRatamiento del Infarto Agudo de miocardio eN Ancianos) randomized trial and pooled analysis with previous studies

    PubMed Central

    Bueno, Héctor; Betriu, Amadeo; Heras, Magda; Alonso, Joaquín J.; Cequier, Angel; García, Eulogio J.; López-Sendón, José L.; Macaya, Carlos; Hernández-Antolín, Rosana; Bueno, Héctor; Hernández-Antolín, Rosana; Alonso, Joaquín J.; Betriu, Amadeo; Cequier, Angel; García, Eulogio J.; Heras, Magda; López-Sendón, José L.; Macaya, Carlos; Azpitarte, José; Sanz, Ginés; Chamorro, Angel; López-Palop, Ramón; Sionis, Alex; Arós, Fernando; García-Fernández, Eulogio; Rubio, Rafael; Hernández, Felipe; Tascón, Juan Carlos; Moreu, José; Betriu, Amadeu; Heras, Magda; Hernández-Antolín, Rosana; Fernández-Ortiz, Antonio; Morís, César; de Posada, Ignacio Sánchez; Cequier, Ángel; Esplugas, Enrique; Melgares, Rafael; Bosa, Francisco; García-González, Martín Jesús; Lezáun, Román; Carmona, José Ramón; Vázquez, José Manuel; Castro-Beiras, Alfonso; Picart, Joan García; de Rozas, José Domínguez; Fernández, José Díaz; Vázquez, Felipe Fernández; Alonso, Norberto; Zueco, José Javier; San José, José María; San Román, Alberto; Hernández, Carolina; García, José María Hernández; Alcántara, Ángel García; Bethencourt, Armando; Fiol, Miquel; Mancisidor, Xabier; Mancisidor, Xabier; Ruiz, Rafael; Hidalgo, Rafael; Sobrino, Nicolás; Maqueda, Isidoro González; Torres, Alfonso; Arós, Fernando; Amaro, Antonio; Jaquet, Michel

    2011-01-01

    Aims To compare primary percutaneous coronary intervention (pPCI) and fibrinolysis in very old patients with ST-segment elevation myocardial infarction (STEMI), in whom head-to-head comparisons between both strategies are scarce. Methods and results Patients ≥75 years old with STEMI <6 h were randomized to pPCI or fibrinolysis. The primary endpoint was a composite of all-cause mortality, re-infarction, or disabling stroke at 30 days. The trial was prematurely stopped due to slow recruitment after enroling 266 patients (134 allocated to pPCI and 132 to fibrinolysis). Both groups were well balanced in baseline characteristics. Mean age was 81 years. The primary endpoint was reached in 25 patients in the pPCI group (18.9%) and 34 (25.4%) in the fibrinolysis arm [odds ratio (OR), 0.69; 95% confidence interval (CI) 0.38–1.23; P = 0.21]. Similarly, non-significant reductions were found in death (13.6 vs. 17.2%, P = 0.43), re-infarction (5.3 vs. 8.2%, P = 0.35), or disabling stroke (0.8 vs. 3.0%, P = 0.18). Recurrent ischaemia was less common in pPCI-treated patients (0.8 vs. 9.7%, P< 0.001). No differences were found in major bleeds. A pooled analysis with the two previous reperfusion trials performed in older patients showed an advantage of pPCI over fibrinolysis in reducing death, re-infarction, or stroke at 30 days (OR, 0.64; 95% CI 0.45–0.91). Conclusion Primary PCI seems to be the best reperfusion therapy for STEMI even for the oldest patients. Early contemporary fibrinolytic therapy may be a safe alternative to pPCI in the elderly when this is not available. Clinicaltrials.gov # NCT00257309. PMID:20971744

  18. Presentation of parathyroid adenoma with genu valgum and thoracic deformities.

    PubMed

    Zil-E-Ali, Ahsan; Latif, Aiza; Rashid, Anam; Malik, Asim; Khan, Haseeb Ahmed

    2016-01-01

    Parathyroid adenoma is the main cause of primary hyperparathyroidism. It is usually asymptomatic and occurs more commonly in adults. It presents with raised parathormone (PTH) and Ca+ levels in serum. Its presentation in adolescence is rare. We report one such incidence of a 14 years old girl who presented with bone pains short stature, and generalized muscle wasting. She was found to have genu valgum at the knee joint, pectus carniatum, scoliosis and cystic changes in pelvis and calvarium. Biochemical investigations and parathyroid Tc-99mMIBI scan confirmed the diagnosis of a parathyroid adenoma. The gland was removed by parathyroidectomy. Till date 12 such cases are reported and none had thoracic, vertebral or calvarium involvement. PMID:26712192

  19. Safe intubation in Morquio-Brailsford syndrome: A challenge for the anesthesiologist.

    PubMed

    Chaudhuri, Souvik; Duggappa, Arun Kumar Handigodu; Mathew, Shaji; Venkatesh, Sandeep

    2013-04-01

    Morquio-Brailsford syndrome is a type of mucopolysaccharidoses. It is a rare disease with features of short stature, atlantoaxial instability with risk of cord damage, odontoid hypoplasia, pectus carinatum, spine deformities, hepatomegaly, and restrictive lung disease. Neck movements during intubation are associated with the risk of quadriparesis due to cervical instability. This, along with the distortion of the airway anatomy due to deposition of mucopolysaccharides makes airway management arduous. We present our experience in management of difficult airway in a 3-year-old girl with Morquio-Brailsford syndrome posted for magnetic resonance imaging and computerized tomography scan of a suspected unstable cervical spine. As utmost sagacity during intubation is required, the child was intubated inside operation theatre in the presence of experienced anesthesiologists and then shifted to the peripheral location. Intubation was done with an endotracheal tube railroaded over a pediatric fibreoptic bronchoscope passed through the lumen of a classic laryngeal mask airway, keeping head in neutral position. PMID:23878456

  20. El dolor y el cáncer (PDQ®)—Versión para pacientes

    Cancer.gov

    Resumen de información revisada por expertos acerca del dolor como una complicación a causa del cáncer o su tratamiento. Se discuten enfoques sobre el manejo y tratamiento del dolor relacionado con el cáncer.

  1. Cannabis y canabinoides (PDQ®)—Versión para profesionales de salud

    Cancer.gov

    Resumen de información revisada por expertos sobre el uso del Cannabis y canabinoides para el tratamiento de los efectos secundarios relacionados con el tratamiento del cáncer, como la náusea y el vómito.

  2. Cannabis y canabinoides (PDQ®)—Versión para pacientes

    Cancer.gov

    Resumen de información revisada por expertos sobre el uso del Cannabis y canabinoides para el tratamiento de los efectos secundarios relacionados con el tratamiento del cáncer como la náusea y el vómito.

  3. Hacer frente - Supervivencia

    Cancer.gov

    Muchos supervivientes de cáncer dicen que cuando terminó el tratamiento, fue difícil ajustarse a una nueva forma de vida. Entérese de cómo ajustarse a nuevos sentimientos y problemas que aparecen después del tratamiento del cáncer.

  4. El dolor y el cáncer (PDQ®)—Versión para profesionales de salud

    Cancer.gov

    Resumen de información revisada por expertos acerca del dolor como una complicación a causa del cáncer o su tratamiento. Se discuten enfoques sobre el manejo y tratamiento del dolor relacionado con el cáncer.

  5. Prurito (PDQ®)—Versión para profesionales de salud

    Cancer.gov

    Resumen de información revisada por expertos acerca del prurito (picazón de la piel) como complicación a causa del cáncer y su tratamiento. Se discuten los enfoques del manejo y tratamiento del prurito.

  6. Cabozantinib y lenvatinib para cáncer renal

    Cancer.gov

    Artículo del blog del NCI sobre la aprobación reciente de la FDA de cabozantinib (Cabometyx®) y de lenvatinib (Lenvima®) para el tratamiento de pacientes cuyo cáncer avanzado de riñón ha evolucionado después de tratamiento con terapias antiangiogénicas.

  7. Prurito (PDQ®)—Versión para pacientes

    Cancer.gov

    Resumen de información revisada por expertos acerca del prurito (picazón de la piel) como complicación a causa del cáncer y su tratamiento. Se discuten los enfoques del manejo y tratamiento del prurito.

  8. Cáncer que regresa

    Cancer.gov

    El cáncer puede regresar cuando el tratamiento no elimina o destruye por completo todas las células cancerosas. Aprenda acerca de los diferentes tipos de recurrencia -recidiva- y cómo se vuelve a asignar un estadio al cáncer y se da tratamiento.

  9. Faltar a sesiones de radioterapia aumenta el riesgo de que regrese el cáncer

    Cancer.gov

    Pacientes que faltan a sesiones de radioterapia durante el tratamiento del cáncer tienen un riesgo mayor de que regrese su enfermedad, aun cuando eventualmente completen su plan de tratamiento con radiación, según un nuevo estudio.

  10. Prurito (PDQ®)—Versión para pacientes

    Cancer.gov

    Resumen de información revisada por expertos acerca del prurito (picazón de la piel) como complicación del cáncer y su tratamiento. Se consideran los abordajes de manejo y tratamiento del prurito.

  11. Prurito (PDQ®)—Versión para profesionales de salud

    Cancer.gov

    Resumen de información revisada por expertos acerca del prurito (picazón en la piel) como complicación del cáncer o su tratamiento. Se consideran los abordajes de manejo y tratamiento del prurito.

  12. Efectos tardíos y el linfoma de Hodgkin en estadio inicial

    Cancer.gov

    Los pacientes con linfoma de Hodgkin en estadio inicial que recibieron varios fármacos de quimioterapia como único tratamiento, tenían más probabilidad de sobrevivir 12 años después que los pacientes que recibieron tratamiento que incluía radioterapia.

  13. 137Cs content in the fruit bodies of various Tuber species.

    PubMed

    Lorenzelli, R; Zambonelli, A; Serra, F; Lamma, A

    1996-12-01

    In this research, the concentration of 137Cs in the fruit bodies of the Tuber species T. magnatum Pico, T. borchii Vitt., T. aestivum Vitt., and T. excavatum Vitt. collected in three different regions of Italy was determined. The values obtained have been compared to the soil concentration of 137Cs, and the transfer factor was determined. The radiocesium content of the examined fruit bodies ranged from 2.5 Bq kg(-1) to 33.3 Bq kg(-1) fresh weight; the median transfer factor values of the four species ranged between 0.06 and 0.6. Our findings indicate that the radiocesium level in truffles from these regions of Italy is generally low, and, thus, their consumption is not of radiological concern. The results may suggest certain hypotheses as to the mechanisms involved in radiocesium uptake in these fungi. PMID:8919081

  14. Rickettsial agents in Egyptian ticks collected from domestic animals.

    PubMed

    Loftis, Amanda D; Reeves, Will K; Szumlas, Daniel E; Abbassy, Magda M; Helmy, Ibrahim M; Moriarity, John R; Dasch, Gregory A

    2006-01-01

    To assess the presence of rickettsial pathogens in ticks from Egypt, we collected ticks from domestic and peridomestic animals between June 2002 and July 2003. DNA extracts from 1019 ticks were tested, using PCR and sequencing, for Anaplasma spp., Bartonella spp., Coxiella burnetii, Ehrlichia spp., and Rickettsia spp. Ticks included: 29 Argas persicus, 10 Hyalomma anatolicum anatolicum, 55 Hyalomma anatolicum excavatum, 174 Hyalomma dromedarii, 2 Hyalomma impeltatum, 3 Hyalomma marginatum rufipes, 55 unidentified nymphal Hyalomma, 625 Rhipicephalus (Boophilus) annulatus, 49 Rhipicephalus sanguineus, and 17 Rhipicephalus turanicus. Ticks were collected predominantly (>80%) from buffalo, cattle, and camels, with smaller numbers from chicken and rabbit sheds, sheep, foxes, a domestic dog, a hedgehog, and a black rat. We detected Anaplasma marginale, Coxiella burnetii, Rickettsia aeschlimannii, and four novel genotypes similar to: "Anaplasma platys," Ehrlichia canis, Ehrlichia spp. reported from Asian ticks, and a Rickettsiales endosymbiont of Ixodes ricinus. PMID:17004028

  15. {sup 137}Cs content in the fruit bodies of various Tuber species

    SciTech Connect

    Lorenzelli, R.; Lamma, A.; Zambonelli, A.; Serra, F.

    1996-12-01

    In this research, the concentration of {sup 137}Cs in the fruit bodies of the Tuber species T. magnatum Pico, T. borchii Vitt., T. aestivum Vitt., and T. excavatum Vitt. collected in three different regions of Italy was determined. The values obtained have been compared to the soil concentration of {sup 137}Cs, and the transfer factor was determined. The radiocesium content of the examined fruit bodies ranged from 2.5 Bq kg{sup {minus}1} to 33.3 Bq kg{sup {minus}1} fresh weight; the median transfer factor values of the four species ranged between 0.06 and 0.6. Our findings indicate that the radiocesium level in truffles from these regions of Italy is generally low, and, thus, their consumption is not of radiological concern. The results may suggest certain hypotheses as to the mechanisms involved in radiocesium uptake in these fungi. 19 refs., 1 fig., 4 tabs.

  16. New Coleoptera records from New Brunswick, Canada: Tenebrionidae and Zopheridae

    PubMed Central

    Webster, Reginald P.; Sweeney, Jon D.; DeMerchant, Ian; Bouchard, Patrice; Bousquet, Yves

    2012-01-01

    Abstract Thirteen species of Tenebrionidae are newly reported for New Brunswick, Canada. Paratenetus punctatus Spinola, Pseudocistela brevis (Say), Mycetochara foveata (LeConte), and Xylopinus aenescens LeConte are recorded for the first time from the Maritime provinces. Platydema excavatum (Say) is removed from the faunal list of New Brunswick, and the presence of Platydema americanum Laporte and Brullé for the province is confirmed. This brings the total number of species of Tenebrionidae known from New Brunswick to 42. Two species of Zopheridae, Bitoma crenata Fabricius and Synchita fuliginosa Melsheimer, are newly recorded for New Brunswick, bringing the number of species known from the province to four. Bitoma crenata is new to the Maritime provinces. Collection and habitat data are presented for these species. PMID:22539897

  17. High-resolution foraminiferal, isotopic, and trace element records from holocene estuarine deposits of San Francisco Bay, California

    USGS Publications Warehouse

    McGann, M.

    2008-01-01

    A 3.5-m gravity core (DJ6-93SF-6) from San Francisco Bay reveals a complex paleoclimatic history of the region over the last 3870 cal YBP. A polynomial equation based on 11 AMS 14C ages provides an excellent age model for the core, and environmental proxies for water temperature and salinity are derived from various foraminiferal abundances, stable carbon and oxygen isotopes, and Mg/Ca ratios. Two foraminiferal associations were identified by Q-mode cluster analysis: a colder-water Elphidium excavatum association and the warmer-water Ammonia beccarii-Elphidium gunteri association. The E. excavatum association dominates the core for all but about 600 years out of the last four millennia. At 3870 cal YBP, water temperatures were warm (13.9??C) and freshwater inflow was reduced compared with today. From 3590 to 2860 cal YBP, temperatures dropped 0.5??C and the climate remained dry. This was followed by a period of pronounced lower ??13C values, indicating that conditions became considerably wetter from 2860 to 2170 cal YBP. During this interval, the temperature oscillated frequently, peaking at 13.9??C at 2710 cal YBP, then dropping shortly thereafter to 12.8??C at 2420 cal YBP. Freshwater inflow gradually decreased between 2170 and 1950 cal YBP with a minimal rise in temperature, then changed quickly to colder and wetter conditions at 1900 cal YBP. Drier conditions then prevailed until 1480 cal YBP with water temperatures fluctuating between 13.1??C and 13.8??C, followed by wetter climate from 1480 to 1320 cal YBP. A significant faunal shift from the E. excavatum association to the A. beccarii-E. gunteri association occurred from 1250 to 650 cal YBP, possibly due to regional warming, decreased oxygen availability, and/or a change in the phyto-plankton community. Associated with this change in faunal composition were warm and dry conditions, representative of the Medieval Warm Period (Medieval Climatic Anomaly). A climatic shift coincident with the onset of the Little

  18. Overview of the genus Briareum (Cnidaria, Octocorallia, Briareidae) in the Indo-Pacific, with the description of a new species

    PubMed Central

    Samimi-Namin, Kaveh; van Ofwegen, Leen P.

    2016-01-01

    Abstract The status of Indo-Pacific Briareum species (Cnidaria, Octocorallia, Briareidae) is reviewed by presenting their sclerite features and habitus descriptions. Following the re-examination of type material, museum specimens and newly collected specimens, a species identification key is provided. The species distributions are discussed and updated distribution ranges are depicted. Moreover, a new taxon, Briareum cylindrum sp. n. is described and depicted, whereas Briareum excavatum (Nutting, 1911) is synonymised with Briareum stechei (Kükenthal, 1908). Briareum hamrum (Gohar, 1948) is recorded from the Persian Gulf and Oman Sea for the first time. Consequently, in total four Briareum species are recognized in the Indo-Pacific; Briareum hamrum from the western Indian Ocean, and Briareum cylindrum sp. n., Briareum stechei, and Briareum violaceum from the central and eastern Indo-Pacific region. PMID:26877697

  19. Distribution of foraminifera in Pamlico Sound, North Carolina, over the past century

    USGS Publications Warehouse

    Abbene, I.J.; Culver, S.J.; Corbett, D.R.; Buzas, M.A.; Tully, L.S.

    2006-01-01

    Foraminiferal and radionuclide data have been used to investigate environmental change that has occurred within Pamlico Sound, North Carolina, over the last century. Environmental conditions were evaluated for three time slices; (1) the modern environment as determined by surficial (0-1 cm) sediments, (2) short-core intervals representing approximately 40 years BP, as determined by 137Cs activity, and (3) short-core intervals representing approximately 120 years BP, as determined by 210Pb activity. Cluster analysis distinguished four foraminiferal assemblages at the surface (0-1 cm): (1) Marsh Biofacies, (2) Estuarine Biofacies A, (3) Estuarine Biofacies B, and (4) Marine Biofacies. The Marsh Biofacies is characterized by typical marsh foraminifera such as Tiphotrocha comprimata, Trochammina inflata, Miliammina fusca and Haplophragmoides wilberti. Estuarine Biofacies A is distinguished from Estuarine Biofacies B by the greater relative abundance of the agglutinated species Ammotium salsum and Ammobaculites crassus in the former and the greater relative abundance of Elphidium excavatum in the latter. The Marine Biofacies is comprised completely of calcareous foraminifera (e.g., Elphidium excavatum, Hanzawaia strattoni, Cibicides lobatulus, Elphidium subarcticum, Quinqueloculina seminula and Elphidium galvestonense) and is restricted to tidal inlets. Down-core foraminiferal data indicate that approximately 120 years BP, Pamlico Sound was dominated by Estuarine Biofacies A, which is indicative of brackish conditions. Upcore in the 40 years BP and modern time slices, Estuarine Biofacies B is the more prominent assemblage within Pamlico Sound; this is indicative of increased salinity over time. Lowered salinity conditions 120 years BP may be the result of high hurricane activity over a several year period.

  20. Benthic foraminifera and environmental changes in Long Island Sound

    USGS Publications Warehouse

    Thomas, E.; Gapotchenko, T.; Varekamp, J.C.; Mecray, E.I.; Buchholtz ten Brink, M. R.

    2000-01-01

    Benthic foraminiferal faunas in Long Island Sound (LIS) in the 1940s and 1960s were of low diversity, and dominated by species of the genus Elphidium, mainly Elphidium excavatum clavatum, with common Buccella frigida and Eggerella advena. The distribution of these species was dominantly correlated with depth, but it was not clear which depth-related environmental variable was most important. Differences between faunas collected in 1996 and 1997, and in the 1940s and 1960s include a strong decrease in relative abundance of Eggerella advena over all LIS, an increase in relative abundance of Ammonia beccarii in western LIS, and a decrease in species diversity. The decreased diversity suggests that environmental stress caused the faunal changes. Oxygen isotope data for E. excavatum clavatum indicate that a change in salinity is not a probable cause. Carbon isotope data suggest that the supply of organic matter to the benthos increased since the early 1960s, with a stronger increase in western LIS where algal blooms have occurred since the early 1970s, possibly as a result of nutrient input by waste water treatment plants. These blooms or the resulting episodes of anoxia/hypoxia may have played a role in the increased relative abundance of A. beccarii. There is no clear explanation for the decreased abundance of E. advena, but changes in the phytoplankton composition (thus food supply) are a possible cause. Benthic foraminiferal faunal and stable isotope data have excellent potential as indicators of physicochemical environmental changes and their effects on the biota in LIS.

  1. Understanding and Facing Discipline-Related Challenges in the English as a Foreign Language Classroom at Public Schools (Comprensión y tratamiento de los retos asociados a la disciplina en el aula de lengua extranjera en escuelas públicas)

    ERIC Educational Resources Information Center

    Quintero Corzo, Josefina; Ramírez Contreras, Odilia

    2011-01-01

    Complying with school regulations and teachers' instructions is a basic principle of an excellent class; both novice and experienced teachers face challenging situations when getting into real classrooms, especially those related to classroom management. There are various reasons that explain discipline problems in public schools, as well as…

  2. Neoplasias mieloproliferativas y síndromes mielodisplásicos—Versión para profesionales de salud

    Cancer.gov

    Información del Instituto Nacional del Cáncer para profesionales de salud sobre el tratamiento de las neoplasias mieloproliferativas, así como referencias a estudios clínicos y otros temas relacionados.

  3. Explore medicamentos | Smokefree Español

    Cancer.gov

    Aprenda sobre los medicamentos que lo ayudarán a dejar de fumar, incluso el tratamiento de reemplazo de la nicotina. El uso de estos medicamentos puede duplicar sus probabilidades de dejar de fumar definitivamente.

  4. ADHD Medications

    MedlinePlus

    ... How Can I Help a Friend Who Cuts? ADHD Medicines KidsHealth > For Teens > ADHD Medicines Print A ... Medicación para el tratamiento del TDAH (ADHD) Managing ADHD With Medicine Just about everyone has trouble concentrating ...

  5. Tumores carcinoides gastrointestinales—Versión para profesionales de salud

    Cancer.gov

    Información del Instituto Nacional del Cáncer para profesionales de salud sobre el tratamiento del tumor carcinoide gastrointestinal, así como referencias a estudios clínicos y otros temas relacionados.

  6. Carcinoma de tumor primario desconocido—Versión para profesionales de salud

    Cancer.gov

    Información del Instituto Nacional del Cáncer para profesionales de salud sobre el tratamiento del carcinoma de tumor primario desconocido, así como referencias a estudios clínicos y otros temas relacionados.

  7. Benthic Foraminifera in the Changing Ecosystem of Long Island Sound

    NASA Astrophysics Data System (ADS)

    Thaler, B.; Thomas, E.; Varekamp, J. C.

    2004-05-01

    Long Island Sound (LIS) is an estuary in a heavily urbanized region; Long Island lies to its South, New York City (NYC) to its West and Connecticut to its North. The Connecticut River contributes >70% of the fresh water influx. LIS has a narrow opening to the West (into East River), but exchange with the ocean occurs dominantly at its eastern end, resulting in an east-west gradient in salinity. An east-west gradient is also present in indicators of anthropogenic contamination in the surface sediments (e.g., trace metals) because western LIS is close to the major source of anthropogenic input (NYC). In addition, bottom currents focus fine-grained, contaminant-loaded sediments there. Since the early 1970's western LIS and parts of central LIS have suffered summer hypoxia, probably as a result of increased algal growth caused by anthropogenic nitrogen input. Benthic foraminifera are eukaryote heterotrophic organisms with a calcareous or agglutinated test. We investigated changes in their populations over time in about 2m-long gravity cores in westernmost (WLIS75GGC1; 73o 40'W, 40o 52'N, 19m waterdepth) and coastal central LIS (B1GGC1; 73o 4'W, 41o 10'N, 8m water depth), to document environmental changes over the last millennium, including the time of European settlement and the industrial revolution and population increase. An age model was derived from metal pollution records and 14C dating. Before European settlement, the low-diversity benthic faunas in core B1GGC1, at a depth within the zone of light penetration, were dominated by Elphidium excavatum, a species feeding on living diatoms. In western LIS (below the zone of light penetration) this species was less abundant and Elphidium incertum and Buccella frigida were common. In both cores, the absolute abundance of benthic foraminifera and the relative abundance of Elphidium excavatum increased in the early 1800's, coinciding with a time of rapid increase in human population around LIS and slightly before an

  8. Paleoenvironmental changes during the past 2000 years, evidence from Kongsfjorden, Svalbard

    NASA Astrophysics Data System (ADS)

    Jernas, P.; Kristensen, D.; Koc, N.; Skirbekk, K.

    2009-04-01

    of fine grained sediment and decrease in ice rafting indicating less influence from glaciers. The foraminiferal species composition show decreasing content of agglutinated foraminifera down core caused by their low preservation potential. For this core site it confirms the importance of calcareous foraminifera as a fossil record tool. The two dominant species in the core are Elphidium excavatum and Nonionellina labradorica. During the last 2000 years the percentage of E. excavatum shows a general tendency to decrease while N. labradorica increases toward present. Elphidium excavatum is typical for arctic glaciomarine environments close to glaciers and ice caps, indicating harsh conditions (cold bottom waters temperatures, lower salinity) and probably extensive ice cover. Nonionellina labradorica indicates the vicinity of oceanographic fronts and high productivity. Another species Islandiella spp., often associated with increased productivity and presence of the sea ice edge, shows significant increase in percentage from 1000 to 800 cal yr BP. From 600 to 400 cal yr BP Bucella spp. start to decline suggesting increased sea ice cover and diminished influence of the Coastal Current on the inner shelf of Svalbard.

  9. 100 Years of benthic foraminiferal history on the inner Texas shelf inferred from fauna and stable isotopes: Preliminary results from two cores

    NASA Astrophysics Data System (ADS)

    Strauss, Josiah; Grossman, Ethan L.; Carlin, Joseph A.; Dellapenna, Timothy M.

    2012-04-01

    Coastal regions, such as the Texas-Louisiana shelf, are subject to seasonal hypoxia that strongly depends on the magnitude of freshwater discharge from local and regional river systems. We have determined benthic foraminiferal fauna and isotopic compositions in two 210Pb dated box cores (BR4 and BR5) to examine the evidence for nearshore hypoxia and freshwater discharge on the Texas shelf during the last 100 years. The 210Pb chronologies of both cores reveal sedimentation rates of 0.2 and 0.1 cm yr-1, translating to ˜60 and ˜90 year records. The fauna of both cores were almost exclusively composed of Ammonia parkinsoniana and Elphidium excavatum, indicating euryhaline ambient waters. The Ammonia-Elphidium (A-E) index, a qualitative measure of low oxygen conditions, shows an increase from values between 20 and 50 to near 100 in both cores, suggesting low oxygen conditions between 1960 and the core top. Between 1950 and 1960 (9-10 cm), low A-E values in BR4 coincide with high δ18O and δ13C values greater than 0‰ and -1‰ respectively. This event corresponds to severe drought (the Texas Drought of Record) over the Brazos River drainage basin and considerably reduced river discharge from 1948 to 1957. High A-E values prior to this event imply low-oxygen conditions were prevalent prior to anthropogenic exacerbation of Louisiana shelf hypoxia and at least since the dredging of a new Brazos River delta in 1929. Elphidium excavatum δ13C values are very low (-4‰) and indicative of significant vital effect. The δ13C values of A. parkinsoniana average -3‰ and exhibit little variability, most likely reflecting pore waters influenced by aerobic and anaerobic respiration. The association of lowered Brazos River discharge with more oxygenated shelf bottom waters suggests Brazos River discharge and shelf hypoxia are linked, but the influence of Mississippi-Atchafalaya discharge can also contribute to shelf stratification.

  10. Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment.

    PubMed

    Tomatsu, S; Montaño, A M; Oikawa, H; Smith, M; Barrera, L; Chinen, Y; Thacker, M M; Mackenzie, W G; Suzuki, Y; Orii, T

    2011-06-01

    Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio A, is a rare, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme N-acetylgalatosamine-6-sulfate-sulfatase (GALNS), which catalyzes a step in the catabolism of glycosaminoglycans (GAGs), keratan sulfate (KS) and chondroitin-6-sulfate (C6S). It leads to accumulation of the KS and C6S, mainly in bone and cornea, causing a systemic skeletal chondrodysplasia. MPS IVA has a variable age of onset and variable rate of progression. Common presenting features include elevation of urinary and blood KS, marked short stature, hypoplasia of the odontoid process, pectus carinatum, kyphoscoliosis, genu valgum, laxity of joints and corneal clouding; however there is no central nervous system impairment. Generally, MPS IVA patients with a severe form do not survive beyond the third decade of life whereas those patients with an attenuated form may survive over 70 years. There has been no effective therapy for MPS IVA, and care has been palliative. Enzyme replacement therapy (ERT) and hematopoietic stem cell therapy (HSCT) have emerged as a treatment for mucopolysaccharidoses disorders, including Morquio A disease. This review provides an overview of the clinical manifestations, diagnosis and symptomatic management of patients with MPS IVA and describes potential perspectives of ERT and HSCT. The issue of treating very young patients is also discussed. PMID:21506915

  11. Skeletal Dysplasia, Global Developmental Delay, and Multiple Congenital Anomalies in a 5 year-old boy– Report of the Second Family with B3GAT3 mutation and Expansion of the Phenotype

    PubMed Central

    von Oettingen, Julia E.; Tan, Wen-Hann; Dauber, Andrew

    2015-01-01

    As a major component of the extracellular matrix, proteoglycans influence the mechanical properties of connective tissue and play an important role in cell-cell and cell-matrix interactions. Genetic defects of proteoglycan biosynthesis lead to multi-system disorders, often most prominently affecting the skeletal system and skin. Specific deficiencies in the enzymes involved in the biosynthesis of the linkage region between the core of the proteoglycan protein and its glycosaminoglycan side chains are known as linkeropathies. We report on a patient from a second family with a homozygous c.830 G>A (p.Arg277Gln) mutation in the B3GAT3 gene. The clinical features expand the previously reported phenotype of B3GAT3 mutations and of linkeropathies in general. This patient has short stature, facial dysmorphisms, skeletal findings, joint laxity, and cardiac manifestations similar to those previously associated with B3GAT3 mutations. However, he also has developmental delay, a visual refractory defect, dental defects, pectus carinatum, and skin abnormalities that have only been associated with linkeropathies caused by mutations in B4GALT6 and B4GALT7. He has bilateral inguinal hernias and atlanto-axial as well as atlanto-occipital instability that have not been previously associated with B3GAT3 mutations. We provide a detailed clinical report and a comparative overview of the phenotypic features of the linkeropathies caused by mutations in B3GAT3, B4GALT6 and B4GALT7. PMID:24668659

  12. Lack of segregation of a Marfan-like phenotype associating marfanoie habitus and mitral valve disease with fibrillin gene on chromosome 15

    SciTech Connect

    VanMaldergen, L.; Hilbert, P.; Gillerot, Y.

    1994-09-01

    Apart from typical Marfan syndrome (MS), several Marfan-like conditions are known. One of those is the MASS syndrome (Mitral involvement, Aortic dilatation, Skin and Skeletal abnormalities) defined by Pyeritz et al. Among these, a dominantly inherited mitral valve prolapse with marfanoid habitus have also been reported. Until now, except for a Marfan-like condition described by Boileau et al., all Marfan families are linked to fib 15. A large Belgian pedigree with 25 affected patients among 62 at risk subjects spanning four generations is described. A syndrome including marfanoid skeletal dysplasia (tall stature, dolichostenomelia, arachnodactyly, pectus carinatum joint dislocation), prolapse and/or myxomatous degeneration of the mitral valve, but without aortic dilatation of eye involvement was observed. Although the phenotype fulfills Berlin diagnostic criteria for MS, it closely resembles MASS syndrome. Preliminary linkage results show discordance aggregation insertion in the fib 15 gene, as evaluated by intragenic microsatellite fib 15. Since Dietz et al. described a similar patient with fib 15 gene, we suggest that this variant of Marfan syndrome is genetically heterogeneous and caused by mutations, some of which are allelic to classical Marfan syndrome plus a subtype, some of which are not. Linkage studies are under way to further characterize the gene involved in the present family.

  13. Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.

    PubMed

    Tiller, G E; Polumbo, P A; Weis, M A; Bogaert, R; Lachman, R S; Cohn, D H; Rimoin, D L; Eyre, D R

    1995-09-01

    The chondrodysplasias are a heterogeneous group of disorders characterized by abnormal growth or development of cartilage. Current classification is based on mode of inheritance as well as clinical, histologic, and/or radiographic features. A clinical spectrum of chondrodysplasia phenotypes, ranging from mild to perinatal lethal, is due to defects in the gene for type II collagen, COL2A1. This spectrum includes Stickler syndrome, Kniest dysplasia, spondyloepiphyseal dysplasia congenita (SEDC), achondrogenesis type II, and hypochondrogenesis. Individuals affected with these disorders exhibit abnormalities of the growth plate, nucleus pulposus, and vitreous humor, which are tissues that contain type II collagen. The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and scoliosis, as well as dappled metaphyses (which are not seen in SEDC). The phenotype was first described by Murdoch and Walker in 1969, and a series of 14 patients was later reported by Anderson et al. The observation of two affected sibs born to unaffected parents led to the classification of SEMD Strudwick as an autosomal recessive disorder. We now describe the biochemical characterization of defects in alpha 1(II) collagen in three unrelated individuals with SEMD Strudwick, each of which is due to heterozygosity for a unique mutation in COL2A1. Our data support the hypothesis that some cases, if not all cases, of this distinctive chondrodysplasia result from dominant mutations in COL2A1, thus expanding the clinical spectrum of phenotypes associated with this gene. PMID:7550321

  14. Phylloid pattern of pigmentary disturbance in a case of complex mosaicism.

    PubMed

    Ribeiro Noce, T; de Pina-Neto, J M; Happle, R

    2001-01-15

    Among the various types of pigmentary disturbances associated with mosaicism, the phylloid pattern (Greek phyllon = leaf, eidos = form) is characterized by multiple leaf-like patches reminiscent of an art nouveau painting. The number of cases displaying this unusual pattern is so far limited. We describe a phylloid pattern of hypomelanosis in a 3-year-old girl with multiple congenital anomalies including microcephaly, midfacial hypoplasia, cleft lip, coloboma, posteriorly rotated ears, pectus carinatum, and pronounced mental and physical retardation. In addition, this child had oval or oblong patches of hyperpigmentation involving the trunk in a horizontal arrangement dissimilar from the phylloid hypomelanotic pattern. In peripheral blood lymphocytes a karyotype 46,XX,-13,+t(13q;13q) was consistently found, whereas cultured skin fibroblasts showed a complex form of mosaicism comprising three different abnormal cell lines (46,XX,-13,+t(13q;13q)/45,XX,-13/45,XX,-13,+frag). This case provides further evidence that the phylloid pattern represents a separate category of pigmentary disturbance to be distinguished from other types of cutaneous mosaicism such as the lines of Blaschko or the checkerboard arrangement. PMID:11223850

  15. Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.

    PubMed

    Deng, Hao; Lu, Qian; Xu, Hongbo; Deng, Xiong; Yuan, Lamei; Yang, Zhijian; Guo, Yi; Lin, Qiongfen; Xiao, Jingjing; Guan, Liping; Song, Zhi

    2016-01-01

    Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant disorder of connective tissue. CCA is characterized by arachnodactyly, dolichostenomelia, pectus deformities, kyphoscoliosis, congenital contractures and a crumpled appearance of the helix of the ear. The aim of this study is to identify the genetic cause of a 4-generation Chinese family of Tujia ethnicity with congenital contractural arachnodactyly by exome sequencing. The clinical features of patients in this family are consistent with CCA. A novel missense mutation, c.3769T>C (p.C1257R), in the fibrillin 2 gene (FBN2) was identified responsible for the genetic cause of our family with CCA. The p.C1257R mutation occurs in the 19th calcium-binding epidermal growth factor-like (cbEGF) domain. The amino acid residue cysteine in this domain is conserved among different species. Our findings suggest that exome sequencing is a powerful tool to discover mutation(s) in CCA. Our results may also provide new insights into the cause and diagnosis of CCA, and may have implications for genetic counseling and clinical management. PMID:27196565

  16. In vitro and ex vivo evaluation of silica-coated super paramagnetic iron oxide nanoparticles (SPION) as biomedical photoacoustic contrast agent

    NASA Astrophysics Data System (ADS)

    Alwi, Rudolf; Telenkov, Sergey A.; Mandelis, Andreas; Leshuk, Timothy; Gu, Frank; Oladepo, Sulayman; Michaelian, Kirk; Dickie, Kristopher

    2013-03-01

    The employment of contrast agents in photoacoustic imaging has gained significant attention within the past few years for their biomedical applications. In this study, the use of silica-coated superparamagnetic iron oxide (Fe3O4) nanoparticles (SPION) was investigated as a contrast agent in biomedical photoacoustic imaging. SPIONs have been widely used as Food-and-Drug-Administration (FDA)-approved contrast agents for magnetic resonance imaging (MRI) and are known to have an excellent safety profile. Using our frequency-domain photoacoustic correlation technique ("the photoacoustic radar") with modulated laser excitation, we examined the effects of nanoparticle size, concentration and biological medium (e.g. serum, sheep blood) on its photoacoustic response in turbid media (intralipid solution). Maximum detection depth and minimum measurable SPION concentration were determined experimentally. The detection was performed using a single element transducer. The nanoparticle-induced optical contrast ex vivo in dense muscular tissues (avian pectus) was evaluated using a phased array photoacoustic probe and the strong potential of silicacoated SPION as a possible photoacoustic contrast agent was demonstrated. This study opens the way for future clinical applications of nanoparticle-enhanced photoacoustic imaging in cancer therapy.

  17. Clinical report of a 17q12 microdeletion with additionally unreported clinical features.

    PubMed

    Roberts, Jennifer L; Gandomi, Stephanie K; Parra, Melissa; Lu, Ira; Gau, Chia-Ling; Dasouki, Majed; Butler, Merlin G

    2014-01-01

    Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a tall-appearing 17-year-old boy with marfanoid habitus, hypermobile joints, mild scoliosis, pectus deformity, widely spaced nipples, pes cavus, autism spectrum disorder, intellectual disability, and psychiatric manifestations including physical and verbal aggression, obsessive-compulsive behaviors, and oppositional defiance. An echocardiogram showed borderline increased aortic root size. An abdominal ultrasound revealed a small pancreas, mild splenomegaly with a 1.3 cm accessory splenule, and normal kidneys and liver. A testing panel for Marfan, aneurysm, and related disorders was negative. Subsequently, a 400 K array-based comparative genomic hybridization (aCGH) + SNP analysis was performed which identified a de novo suspected pathogenic deletion on chromosome 17q12 encompassing 28 genes. Despite the limited number of cases described in the literature with 17q12 rearrangements, our proband's phenotypic features both overlap and expand on previously reported cases. Since syndrome-specific DNA sequencing studies failed to provide an explanation for this patient's unusual habitus, we postulate that this case represents an expansion of the 17q12 microdeletion phenotype. Further analysis of the deleted interval is recommended for new genotype-phenotype correlations. PMID:24991439

  18. Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing

    PubMed Central

    Deng, Hao; Lu, Qian; Xu, Hongbo; Deng, Xiong; Yuan, Lamei; Yang, Zhijian; Guo, Yi; Lin, Qiongfen; Xiao, Jingjing; Guan, Liping; Song, Zhi

    2016-01-01

    Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant disorder of connective tissue. CCA is characterized by arachnodactyly, dolichostenomelia, pectus deformities, kyphoscoliosis, congenital contractures and a crumpled appearance of the helix of the ear. The aim of this study is to identify the genetic cause of a 4-generation Chinese family of Tujia ethnicity with congenital contractural arachnodactyly by exome sequencing. The clinical features of patients in this family are consistent with CCA. A novel missense mutation, c.3769T>C (p.C1257R), in the fibrillin 2 gene (FBN2) was identified responsible for the genetic cause of our family with CCA. The p.C1257R mutation occurs in the 19th calcium-binding epidermal growth factor-like (cbEGF) domain. The amino acid residue cysteine in this domain is conserved among different species. Our findings suggest that exome sequencing is a powerful tool to discover mutation(s) in CCA. Our results may also provide new insights into the cause and diagnosis of CCA, and may have implications for genetic counseling and clinical management. PMID:27196565

  19. Digital stereophotogrammetry as a new technique to quantify truncal deformity: a pilot study in persons with osteogenesis imperfecta.

    PubMed

    Gabor, Lisa R; Chamberlin, Andrew P; Levy, Ellen; Perry, Monique B; Cintas, Holly; Paul, Scott M

    2011-10-01

    The objective of this pilot study was to determine the usability of stereophotogrammetry (SP) as a noninvasive technique for obtaining linear measures and anatomical data of the torso in people with osteogenesis imperfecta in comparison with clinical observations. Ten participants were recruited from subjects enrolled in ongoing institutional review board-approved osteogenesis imperfecta protocols at the National Institute of Child Health and Human Development. Using a Gulick tape measure, anthropometer, and the SP system proprietary software, linear measurements of the torso were taken. In addition, the presence or absence of specific torso deformities was documented from both clinical observation and evaluation of SP images. Measurements of torso diameter and circumference by SP demonstrated strong agreement with the manual measurements (intraclass correlation coefficient = 0.995 and 0.964, respectively). Substantial and statistically significant agreement was present between SP image evaluation and clinical observation for pectus carinatum (κ = 0.52 ± 0.23) and thoracic scoliosis (κ = 0.72 ± 0.12). The kappa values between clinical observation and SP evaluations of other torso deformities were not significant. The strong correlations and P values determined by this study demonstrate the potential value of SP in studying persons with truncal deformities. However, the weak agreement between SP and some clinical observations suggests that further development of SP image analysis tools is required before SP can be used as a standard method of diagnosis or assessment of treatment success. PMID:21862911

  20. Novel mitoviruses in Rhizoctonia solani AG-3PT infecting potato.

    PubMed

    Das, Subha; Falloon, Richard E; Stewart, Alison; Pitman, Andrew R

    2016-03-01

    Double-stranded RNA (dsRNA) elements are ubiquitous in Rhizoctonia solani. Total dsRNA was randomly amplified from a R. solani isolate (RS002) belonging to anastomosis group-3PT (AG-3PT), associated with black scurf in potato. Assembly of resulting cDNA sequences identified a nearly complete genome of a novel virus related to the genus Mitovirus (family Narnaviridae), herein named Rhizoctonia mitovirus 1 RS002 (RMV-1-RS002). The 2797 nucleotide partial genome of RMV-1-RS002 is A-U rich (59.06 %), and can be folded into stable stem-loop structures at 5' and 3' ends. Universal and mold mitochondrial codon usages revealed a large open reading frame in the genome, putatively encoding an 826 amino acid polypeptide, which has conserved motifs for mitoviral RNA-dependent RNA polymerase. The full length putative polypeptide shared 25.6 % sequence identity with the corresponding region of Tuber excavatum mitovirus (TeMV). The partial genome of a second mitovirus (proposed name Rhizoctonia mitovirus 2 RS002 (RMV-2-RS002)) was also amplified from RS002. A nearly identical copy of RMV-1-RS002 was detected in two additional AG-3PT isolates. These data indicate that multiple mitoviruses can exist in a single isolate of R. solani AG-3PT, and that mitoviruses such as RMV-1-RS002 are probably widespread in this pathogen. The roles of mitoviruses in the biology of R. solani AG-3PT remain unknown. PMID:26895862

  1. Selection of a set of specific primers for the identification of Tuber rufum: a truffle species with high genetic variability.

    PubMed

    Iotti, Mirco; Amicucci, Antonella; Bonito, Gregory; Bonuso, Enrico; Stocchi, Vilberto; Zambonelli, Alessandra

    2007-12-01

    Tuber rufum is a truffle widely distributed throughout Europe, which forms mycorrhizal associations with numerous species of broadleaf and coniferous trees. The possibility of T. rufum contamination in commercial truffle-infected plants makes its detection important. To facilitate the identification of T. rufum from mycorrhiza and fruitbodies, species-specific primers were designed and tested. To overcome the high intraspecific genetic variability within the internal transcribed spacer (ITS) regions of T. rufum, as demonstrated by phylogenetic analysis, two forward primers, Ru1f and Ru2f, located on the ITS1 region were designed to be used in concert with the reverse primer ITS4. Only T. rufum was amplified with this primer combination, while DNA of Tuber magnatum, Tuber brumale, Tuber maculatum, Tuber borchii, Tuber excavatum and Tuber melanosporum was not. These primers give a specific amplicon ranging between 566 and 572 bp and are able to discriminate between T. rufum, T. borchii and T. magnatum in multiplex PCR. In addition, T. rufum-specific amplicons were obtained from both spore suspensions and mycorrhiza by direct PCR. Tuber rufum mycorrhiza obtained in the greenhouse using mycelial inoculation techniques had morphological features similar to those of other species of Tuber, stressing the importance of molecular tools for their identification. PMID:18031344

  2. Allergy to Surgical Implants.

    PubMed

    Pacheco, Karin A

    2015-01-01

    Surgical implants have a wide array of therapeutic uses, most commonly in joint replacements, but also in repair of pes excavatum and spinal disorders, in cardiac devices (stents, patches, pacers, valves), in gynecological implants, and in dentistry. Many of the metals used are immunologically active, as are the methacrylates and epoxies used in conjunction with several of these devices. Allergic responses to surgical components can present atypically as failure of the device, with nonspecific symptoms of localized pain, swelling, warmth, loosening, instability, itching, or burning; localized rash is infrequent. Identification of the specific metal and cement components used in a particular implant can be difficult, but is crucial to guide testing and interpretation of results. Nickel, cobalt, and chromium remain the most common metals implicated in implant failure due to metal sensitization; methacrylate-based cements are also important contributors. This review will provide a guide on how to assess and interpret the clinical history, identify the components used in surgery, test for sensitization, and provide advice on possible solutions. Data on the pathways of metal-induced immune stimulation are included. In this setting, the allergist, the dermatologist, or both have the potential to significantly improve surgical outcomes and patient care. PMID:26362550

  3. Survey on infection rate, vectors and molecular identification of Theileria annulata in cattle from North West, Iran.

    PubMed

    Arjmand Yamchi, Jafar; Tavassoli, Mousa

    2016-09-01

    Tropical theileriosis is a progressive bovine lymphoproliferative disease caused by the intracellular protozoan parasite Theileria annulata. In this study 138 blood samples and 289 ticks were collected and examined from cattle that belonged to 10 randomly selected flocks. The Tbs-S/Tbs-A primer set was used for PCR amplification of Theileria spp. and the Ta-S/Tbs-A specific primer set was used in semi-nested PCR technique for detection of T. annulata. Blood smears of each case were examined by Giemsa staining method. The semi-nested PCR accurately revealed 22 (15.94 %) positive samples; whereas Giemsa staining method could detect 15 (10.86 %) out of 138 blood samples. The examination of 289 ticks by semi-nested PCR revealed that, 32.86 % of Hyalomma anatulicum anatulicum, 26.47 % of Hyalomma anatulicum excavatum and 22.42 % of Hyalomma asiaticum asiaticum, were infected with T. annulata. The results suggest that H. anatulicum anatolicum may play a major role in transmission of T. annulata infection in Iran. The results indicated that the Giemsa staining method, having low sensitivity, while the semi-nested PCR technique can be used as a gold standard method for this purpose. PMID:27605839

  4. Late Holocene evolution and increasing pollution in Guanabara Bay, Rio de Janeiro, SE Brazil.

    PubMed

    Vilela, Claudia Gutterres; Figueira, Brígida Orioli; Macedo, Mariana Cardoso; Baptista Neto, José Antonio

    2014-02-15

    To detect changes during the Late Holocene and historical periods in Guanabara Bay, the paleoecological and ecological parameters from nine cores were analysed using foraminiferal assemblages and bioindicators. Using radiocarbon dates and sedimentation rates in the cores, it was possible to detect the first Europeans' arrival in the 16th century. Foraminiferal bioindicators of organic matter and human pollution were correlated with radiocarbon dates from the bottom and middle of the cores in each region and revealed an increase in pollution along the cores. The foraminiferal results were compared with total organic carbon (TOC) values before, during and after European settlement and showed a historical increase in organic matter. Pristine mangrove ecosystems are characterised by agglutinated species such as Ammotium salsum, and the presence of this organism also confirmed the extent of historical mangrove forests. Ammonia tepida, Buliminella elegantissima and Elphidium excavatum were the dominant species, but they presented distinct patterns over time. B. elegantissima was dominant before the European influence in older sediments with high organic matter content that were found at deeper intervals. A. tepida is dominant in younger sediments at upper intervals, as a bioindicator of human pollution. PMID:24373667

  5. Preferences of different tick species for human hosts in Turkey.

    PubMed

    Kar, S; Dervis, E; Akın, A; Ergonul, O; Gargili, A

    2013-11-01

    The ticks removed from the patients who applied to the hospitals in Istanbul and neighboring cities, Turkey, with the complaint of tick bite were examined in this study, on account of their species, biological stages, attachment sites on the body, and the age of the affected patients. A total of 16,969 ticks were identified. Encountered species were as follows: 33.6 % Ixodes spp. immature, 25.3 % Hyalomma spp. immature, 24.3 % I. ricinus, 9.5 % Rhipicephalus sanguineus gr., 3.2 % R. bursa, 2.2 % Hyalomma marginatum, 1.96 % Haemaphysalis adults, 1.66 % Hyalomma aegyptium, 0.52 % Dermacentor marginatus, 0.39 % Rhipicephalus spp. nymphs, 0.12 % Dermacentor spp. nymphs, 0.11 % Haemaphysalis spp. nymphs, 0.09 % Hyalomma scupense, and 0.03 % Hyalomma excavatum. The distribution of attachment sites of the species and instars showed significant differences. Furthermore, age data of the patients also revealed that certain tick species were more common within certain age groups. PMID:23620419

  6. Benthic foraminifers on the continental shelf and upper slope, Russian River area, northern California ( USA).

    USGS Publications Warehouse

    Quinterno, P.J.; Gardner, J.V.

    1987-01-01

    We analyzed benthic foraminifers from 71 surface samples collected from the sea floor of the continental margin. One hundred and six different taxa were identified, and Q-mode factor analysis was used to identify assemblages. Six foraminiferal assemblage factors explain 94% of the variation in the data matrix. The Inner Shelf Assemblage is characterized by Trichohyalus ornatissima, Rotalia columbiensis, Cassidulina limbata, Cibicides fletcheri, Elphidiella hannai and Elphidium sp. 1 and occupies water depths less than 50 m. The Middle Shelf Assemblage is characterized by Nonionella basispinata, Elphidium excavatum and Florilus labradoricus and occupies water depths between 50 and 90 m. A Middle Shelf to Upper Bathyal Assemblage is characterized by Uvigerina juncea, Globobulimina spp. and Nonionella basispinata and occupies depths between about 90 and 450 m. Two overlapping assemblages make up the Upper Middle Bathyal Assemblage and are most abundant between water depths of 500 and 1300 m. They are associated with low- oxygen conditions. The Mid-Bathyal Assemblage is dominated by Uvigerina proboscidea and occurs on the slope at water depths ranging from 1200 to 2500 m. -from Authors

  7. Palaeo-ecological quality status based on foraminifera of Boulogne-sur-Mer harbour (Pas-de-Calais, Northeastern France) over the last 200 years.

    PubMed

    Francescangeli, F; Armynot du Chatelet, E; Billon, G; Trentesaux, A; Bouchet, V M P

    2016-06-01

    Over the last centuries, coastal areas have experienced dramatic degradations of their environmental quality, which has led to a huge reduction of marine biodiversity. The objective of the present study was to use geochemical parameters and benthic fossil foraminifera to assess environmental changes that have occurred over the last 200 years in a harbour area (Boulogne-sur-Mer, Northern France) heavily modified by human activities. A multidisciplinary approach including major and trace metals, grain-size, total organic carbon and benthic fossil foraminifera, has been performed on a 33-cm long core. The dating was carried out using the activity of (210)Pb and (137)Cs. Embayment of the area and increase of trace metals concentrations induced a shift in benthic communities. Human activities modified a sandy nearshore bank, colonized by typical marine foraminiferal species, such as Cribroelphiudium excavatum, into a sheltered environment, dominated by brackish end-members, such as Haynesina germanica. Along the sedimentary record, the interaction between meiofaunal and geochemical elements made it possible to distinguish between a pre-impacted period and an industrial period. The upper part of the core reflects better ecological conditions, indicating an environmental recovery. Our results provide baselines for future environmental bio-monitoring in the area. PMID:27074196

  8. How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

    PubMed

    Ravel, Aimé; Chouery, Eliane; Stora, Samantha; Jalkh, Nadine; Villard, Laurent; Temtamy, Samia; Mégarbané, André

    2011-04-01

    We describe a French young man with digital anomalies consisting of brachydactyly, F1-5 bilateral camptodactyly, interdigital webbing, F5 bilateral radial clinodactyly, and partial syndactyly of some fingers and toes. He had psychomotor retardation, short stature, umbilical hernia, a secundum atrial septal defect, seizures, hearing impairment, and dysmorphic features consisting of microcephaly, a prominent metopic ridge, upslanting palpebral fissures, synophrys, enophthalmia, large ears, a bulbous nose, a high palate, a smooth and short philtrum, a low hanging columella, a thin upper vermillion, an everted lower lip, prognathism, pectum excavatum, and supernumerary nipples. Osteotendinous reflexes were brisk. Mild nystagmus, myopia, and astigmatia were also noted. Total body X-rays showed short terminal phalanges of the hands, short middle phalanges of the index and little fingers, clinodactyly of the little fingers, short and fused proximal 4th and 5th metacarpals of the right hand, a short 5th metacarpal of the left hand, a fused left lunate-triquetrum, fused capitate-hamates, a prominent mandibula, and partial sacral agenesis. A thin posterior corpus callosum was apparent by MRI. Differential diagnoses for mainly the Rubinstein-Taybi syndrome, the Tsukahara syndrome, the Filippi syndrome, the Feingold syndrome, and the Tonoki syndrome are discussed, and the possibility that we might be reporting a novel entity is raised. © 2011 Wiley-Liss, Inc. PMID:21416592

  9. Molecular Investigation of Francisella-Like Endosymbiont in Ticks and Francisella tularensis in Ixodid Ticks and Mosquitoes in Turkey.

    PubMed

    Duzlu, Onder; Yildirim, Alparslan; Inci, Abdullah; Gumussoy, Kadir Semih; Ciloglu, Arif; Onder, Zuhal

    2016-01-01

    This study was carried out to investigate the molecular prevalence of Francisella-like endosymbionts (FLEs) and Francisella tularensis in ticks (Acari: Ixodidae) and mosquitoes in Turkey. Genomic DNA pools were constructed from a total of 1477 adult hard ticks of Rhipicephalus (Rh.) annulatus, Rh. turanicus, Rh. sanguineus, Rh. bursa, Haemaphysalis (Hae.) parva, Hae. sulcata, Hyalomma marginatum marginatum, H. anatolicum anatolicum, H. anatolicum excavatum, H. detritum detritum, H. dromedarii, Dermacentor marginatus, and Ixodes ricinus species, which were collected from several barns, cattle, and people. Genomic DNA was also extracted from pools consisting of 6203 adult female mosquito species belonging to Aedes vexans, Culex (Cx.) pipiens, Cx. hortensis, Cx. theileri, Culiseta annulata, and Anopheles maculipennis species. Conventional PCR and TaqMan probe-based real- time PCR targeting the 16S rRNA gene for FLEs and the lpnA gene for F. tularensis, respectively, were performed on the DNA isolates obtained. FLEs and F. tularensis were not found in any genomic DNA pools constructed from ixodid ticks and mosquitos. This study represents the first investigation of F. tularensis and FLEs in potential vector ticks and mosquitoes by molecular methods in Turkey. The present study provides useful insights into the molecular epidemiology of F. tularensis and FLEs. One of the major conclusions of the study is that tularemia outbreaks may be essentially due to direct transmission from the environment (especially from water) in Turkey and not to vector-borne transmission. PMID:26741324

  10. First Molecular Identification and Genetic Characterization of Theileria lestoquardi in Sheep of the Maghreb Region.

    PubMed

    Rjeibi, M R; Darghouth, M A; Rekik, M; Amor, B; Sassi, L; Gharbi, M

    2016-06-01

    Theileria lestoquardi is the most prominent Theileria species in small ruminants that causes malignant theileriosis of sheep in Africa and Asia. In the present survey, blood samples and ticks were collected in Kebili (southern Tunisia) from 166 Queue Fine de l'Ouest sheep. Giemsa-stained blood smears, immunofluorescent antibody test (IFAT) and PCR were performed. The DNA was extracted from blood and analysed by PCR targeting 18S rRNA gene of Theileria spp. and then sequenced. A total number of 140 ticks were collected from a total number of 166 sheep during the four seasons. The ticks belonged to two genera and 4 species; the most frequent tick was Hyalomma excavatum 84.3% (118/140) and then Rhipicephalus spp. 15.7% (22/140). Only two animals had positive Giemsa-stained blood smears, and they were also positive by IFAT. The amplicons had 99.3 and 99.6% homology with the BLAST published T. lestoquardi amplicons. To our knowledge, this is the first report of T. lestoquardi in small ruminants within the Maghreb region. PMID:25208526

  11. [Not Available].

    PubMed

    Fort Casamartina, Eduard; Arribas Hortiguela, Lorena; Bleda Pérez, Carmen; Muñoz Sánchez, Carme; Peiro Martínez, Imma; Perayre Badía, María; Clopés Estela, Ana

    2016-01-01

    Durante la última década, el conocimiento de nuevos mecanismos implicados en el desarrollo del cáncer ha permitido el diseño de nuevos fármacos para su tratamiento y la mayor parte de ellos son fármacos que se administran por vía oral. Uno de los principales problemas de los pacientes oncohematológicos es la desnutrición, que suele tener causas multifactoriales (de la propia enfermedad, de los pacientes y de los diferentes tratamientos administrados). Para minimizar el impacto de la desnutrición es necesaria una intervención nutricional, ya sea adaptando la dieta o mediante la instauración de soporte nutricional artificial, en función de la gravedad de cada caso. En cualquier paciente que esté recibiendo un tratamiento oncológico hay que evaluar las posibles interacciones que pueden existir con el soporte nutricional instaurado, ya sea dieta oral, suplementación oral o nutrición enteral. Estas interacciones pueden disminuir la eficacia, aumentar la toxicidad de los tratamientos o producir déficits nutricionales. Se detallan las principales interacciones que se pueden producir, las interacciones entre los tratamientos oncológicos y el soporte nutricional. PMID:27269219

  12. Criptococosis cutánea primaria en paciente inmunocompetente.

    PubMed

    Osorio, Igor Vázquez; García-Rodiño, Sara; Rodríguez-Rodríguez, Marta; Labandeira, Javier; Suárez-Peñaranda, José Manuel; Sánchez-Aguilar, MDolores; Vázquez-Veiga, Hugo

    2016-01-01

    La criptococosis cutánea es una micosis propia de pacientes inmunodeprimidos, sobre todo aquellos con infección por el virusde la inmunodeficiencia humana (VIH). Sin embargo, existen casos infrecuentes de criptococosis cutánea en pacientes inmunocompetentes, que suelen simular otras dermatosis, lo que retrasa su diagnóstico y tratamiento. Presentamos el caso de un varón pluripatológico de 79 años, con úlceras dolorosas en dorso de mano derecha que no respondían a tratamientos tópicos. A través del estudio histopatológico y micológico se alcanzó el diagnóstico de criptococosis cutánea primaria, lográndose la remisión de las lesiones tras 6 meses de tratamiento con fluconazol. PMID:27617525

  13. Therapies for the bone in mucopolysaccharidoses.

    PubMed

    Tomatsu, Shunji; Alméciga-Díaz, Carlos J; Montaño, Adriana M; Yabe, Hiromasa; Tanaka, Akemi; Dung, Vu Chi; Giugliani, Roberto; Kubaski, Francyne; Mason, Robert W; Yasuda, Eriko; Sawamoto, Kazuki; Mackenzie, William; Suzuki, Yasuyuki; Orii, Kenji E; Barrera, Luis A; Sly, William S; Orii, Tadao

    2015-02-01

    Patients with mucopolysaccharidoses (MPS) have accumulation of glycosaminoglycans in multiple tissues which may cause coarse facial features, mental retardation, recurrent ear and nose infections, inguinal and umbilical hernias, hepatosplenomegaly, and skeletal deformities. Clinical features related to bone lesions may include marked short stature, cervical stenosis, pectus carinatum, small lungs, joint rigidity (but laxity for MPS IV), kyphoscoliosis, lumbar gibbus, and genu valgum. Patients with MPS are often wheelchair-bound and physical handicaps increase with age as a result of progressive skeletal dysplasia, abnormal joint mobility, and osteoarthritis, leading to 1) stenosis of the upper cervical region, 2) restrictive small lung, 3) hip dysplasia, 4) restriction of joint movement, and 5) surgical complications. Patients often need multiple orthopedic procedures including cervical decompression and fusion, carpal tunnel release, hip reconstruction and replacement, and femoral or tibial osteotomy through their lifetime. Current measures to intervene in bone disease progression are not perfect and palliative, and improved therapies are urgently required. Enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and gene therapy are available or in development for some types of MPS. Delivery of sufficient enzyme to bone, especially avascular cartilage, to prevent or ameliorate the devastating skeletal dysplasias remains an unmet challenge. The use of an anti-inflammatory drug is also under clinical study. Therapies should start at a very early stage prior to irreversible bone lesion, and damage since the severity of skeletal dysplasia is associated with level of activity during daily life. This review illustrates a current overview of therapies and their impact for bone lesions in MPS including ERT, HSCT, gene therapy, and anti-inflammatory drugs. PMID:25537451

  14. Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA

    PubMed Central

    2014-01-01

    Background Mucopolysaccharidosis IVA (MPS IVA) is a rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase deficiency, which catalyzes a step in the catabolism of glycosaminoglycans, keratan sulfate and chondroitin-6-sulfate. This disease has a variable age of onset and rate of progression. Methods A retrospective analysis of medical records of 24 patients with MPS IVA (11 males, 13 females; current mean age ± SD, 12.6 ± 6.6 years; age range, 1.4-29.4 years) seen at 6 medical centers in Taiwan from January 1996 through June 2013 was performed. Results Mean ages of onset of symptoms and confirmed diagnosis were 2.0 ± 1.6 and 5.7 ± 4.5 years, respectively. The most prevalent clinical manifestations were kyphosis (100%), pectus carinatum (96%), abnormal gait (93%), striking short trunk dwarfism (92%), genu valgum (92%), and valvular heart disease (91%). Eight patients (33%) experienced at least one surgical procedure with the most common being ear tube insertion (25%), adenoidectomy (17%), tonsillectomy (13%), supraglottoplasty (13%), spinal decompression (13%), and spinal fusion (13%). The most prevalent cardiac valve abnormalities were aortic stenosis (45%) and mitral regurgitation (45%). At the time of the study, 8 out of 24 patients (33%) have died at the mean age of 17.2 ± 7.7 years. Conclusions An understanding of the natural history involved in MPS IVA may allow early diagnosis of the disease. All affected Taiwanese patients experienced significant functional limitations. Adequate evaluations and timely management may improve clinical outcomes and quality of life. PMID:24513086

  15. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome

    SciTech Connect

    Kimonis, V.E.; Yang, M.L.; Bale, S.J.

    1997-03-31

    Nevoid basal cell carcinoma syndrome (NBCC; Gorlin syndrome), an autosomal dominant disorder linked to 9q22.3-q31, and caused by mutations in PTC, the human homologue of the Drosophila patched gene, comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies and calcification of the falx cerebri. We reviewed the findings on 105 affected individuals examined at the NIH since 1985. The data included 48 males and 57 females ranging in age from 4 months to 87 years. Eighty percent of whites (71/90) and 38% (5/13) of African-Americans had at least one basal cell carcinoma (BCC), with the first tumor occurring at a mean age of 23 (median 20) years and 21 (median 20) years, respectively. Excluding individuals exposed to radiation therapy, the number of BCCs ranged from 1 to >1,000 (median 8) and 1 to 3 (median 2), respectively, in the 2 groups. Jaw cysts occurred in 78/105 (74%) with the first tumor occurring in 80% by the age of 20 years. The number of total jaw cysts ranged from 1 to 28 (median 3). Palmar pits and plantar pits were seen in 87%. Ovarian fibromas were diagnosed by ultrasound in 9/52 (17%) at a mean age of 30 years. Medulloblastoma occurred in 4 patients at a mean age of 2.3 years. Three patients had cleft lip or palate. Physical findings include {open_quotes}coarse face{close_quotes} in 54%, relative macrocephaly in 50%, hypertelorism in 42%, frontal bossing in 27%, pectus deformity in 13%, and Sprengel deformity in 11%. This study delineates the frequency of the clinical and radiological anomalies in NBCC in a large population of US patients and discusses guidelines for diagnosis and management. 48 refs., 3 figs., 5 tabs.

  16. Neuropsychological Status in Children After Repair of Acyanotic Congenital Heart Disease

    PubMed Central

    Quartermain, Michael D.; Ittenbach, Richard F.; Flynn, Thomas B.; Gaynor, J. William; Zhang, Xuemei; Licht, Daniel J.; Ichord, Rebecca N.; Nance, Michael L.; Wernovsky, Gil

    2016-01-01

    OBJECTIVES The majority of previous studies that described the neuropsychological effects of cardiopulmonary bypass (CPB) in children were performed after surgery in infancy for complex congenital heart disease (CHD). We sought to limit confounding variables and isolate potential independent effects of CPB by describing neuropsychological function in school-aged children after repair of acyanotic CHD. METHODS This was a prospective study of patients who were aged 5 to 18 years and undergoing repair of acyanotic CHD. Neuropsychological testing battery included assessment of intelligence, memory, motor, attention, executive function, and behavior before and 6 months after CPB. The independent effects of anesthesia, surgery, and hospitalization on neuropsychological function were assessed by testing a surgical control group of patients who were undergoing repair of pectus deformities. In addition, an outpatient group of children with mild CHD were enrolled to assess the practice effects of serial testing. RESULTS Patients included CPB (n = 35), surgical control (n = 19), and nonsurgical (n = 12). Groups were comparable in age, gender, and race and demonstrated similar unadjusted group mean scores on baseline and 6-month follow-up neuropsychological testing. When adjusted for practice effects, the CPB group performed similar to the non-CPB groups in all assessed neuropsychological domains, with the exception of 1 of 4 tests of executive function. CONCLUSIONS When controlling for the non-CPB effects of surgery (eg, hospitalization, anesthesia, thoracotomy) and the practice effects of serial testing, there were no consistent independent effects of CPB on neuropsychological status in a cohort of children and adolescents 6 months after repair of acyanotic CHD. PMID:20660542

  17. Therapies for the bone in mucopolysaccharidoses

    PubMed Central

    Tomatsu, Shunji; Alméciga-Díaz, Carlos J.; Montaño, Adriana M.; Yabe, Hiromasa; Tanaka, Akemi; Dung, Vu Chi; Giugliani, Roberto; Kubaski, Francyne; Mason, Robert W.; Yasuda, Eriko; Sawamoto, Kazuki; Mackenzie, William; Suzuki, Yasuyuki; Orii, Kenji E.; Barrera, Luis A.; Sly, William S.; Orii, Tadao

    2014-01-01

    Patients with mucopolysaccharidoses (MPS) have accumulation of glycosaminoglycans in multiple tissues which may cause coarse facial features, mental retardation, recurrent ear and nose infections, inguinal and umbilical hernias, hepatosplenomegaly, and skeletal deformities. Clinical features related to bone lesions may include marked short stature, cervical stenosis, pectus carinatum, small lungs, joint rigidity (but laxity for MPS IV), kyphoscoliosis, lumbar gibbus, and genu valgum. Patients with MPS are often wheelchair-bound and physical handicaps increase with age as a result of progressive skeletal dysplasia, abnormal joint mobility, and osteoarthritis, leading to 1) stenosis of the upper cervical region, 2) restrictive small lung, 3) hip dysplasia, 4) restriction of joint movement, and 5) surgical complications. Patients often need multiple orthopedic procedures including cervical decompression and fusion, carpal tunnel release, hip reconstruction and replacement, and femoral or tibial osteotomy through their lifetime. Current measures to intervene in bone disease progression are not perfect and palliative, and improved therapies are urgently required. Enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and gene therapy are available or in development for some types of MPS. Delivery of sufficient enzyme to bone, especially avascular cartilage, to prevent or ameliorate the devastating skeletal dysplasias remains an unmet challenge. The use of an anti-inflammatory drug is also under clinical study. Therapies should start at a very early stage prior to irreversible bone lesion, and damage since the severity of skeletal dysplasia is associated with level of activity during daily life. This review illustrates a current overview of therapies and their impact for bone lesions in MPS including ERT, HSCT, gene therapy, and anti-inflammatory drugs. PMID:25537451

  18. Cáncer de piel—Versión para pacientes

    Cancer.gov

    Información del Instituto Nacional del Cáncer sobre el tratamiento, la prevención, las causas, los exámenes de detección y los estudios clínicos del cáncer de piel, así como referencias a otros temas relacionados con este tipo de cáncer.

  19. Estudio muestra reducción de mortalidad en hombres con cáncer de próstata de grado intermedio

    Cancer.gov

    Terapia hormonal por corto tiempo administrada en combinación con radioterapia a hombres con cáncer de próstata en estadio inicial aumentó sus posibilidades de vivir más en comparación con tratamiento de radioterapia sola, según un estudio clínico patroci

  20. Náuseas y vómitos (PDQ®)—Versión para pacientes

    Cancer.gov

    Resumen de información revisada por expertos acerca de las náuseas y los vómitos como complicaciones a causa del cáncer o su tratamiento. Se discuten enfoques sobre el manejo de las náuseas y los vómitos.

  1. Náuseas y vómitos (PDQ®)—Versión para profesionales de salud

    Cancer.gov

    Resumen de información revisada por expertos acerca de las náuseas y los vómitos como complicaciones a causa del cáncer o su tratamiento. Se discuten enfoques sobre el manejo de las náuseas y los vómitos.

  2. Cáncer de cabeza y cuello—Versión para pacientes

    Cancer.gov

    Información del Instituto Nacional del Cáncer sobre el tratamiento, la prevención, las causas y los exámenes de detección de los cánceres de cabeza y cuello, así como referencias a estudios clínicos, investigaciones, estadísticas y temas relacionados.

  3. Neoplasias de células plasmáticas (incluso mieloma múltiple)—Versión para pacientes

    Cancer.gov

    Información del Instituto Nacional del Cáncer sobre el tratamiento del mieloma múltiple y otras neoplasias de células plasmáticas, así como referencias a estudios clínicos, investigación, estadísticas y otros temas relacionados.

  4. Cáncer de intestino delgado—Versión para profesionales de salud

    Cancer.gov

    Información del Instituto Nacional del Cáncer para profesionales de salud sobre el tratamiento del cáncer de intestino delgado, así como referencias a estudios clínicos, investigación y otros temas relacionados con este tipo de cáncer.

  5. Cáncer de intestino delgado—Versión para pacientes

    Cancer.gov

    Información del Instituto Nacional del Cáncer sobre el tratamiento del cáncer de intestino delgado, así como referencias a estudios clínicos, investigación y otros temas relacionados con este tipo de cáncer.

  6. Hacer frente - Para la familia y los amigos

    Cancer.gov

    Si usted ayuda a su familiar o amigo durante el tratamiento del cáncer, usted es quien le cuida. Estar al cuidado de una persona con cáncer puede incluir muchas tensiones. Sugerencias para que se cuide usted cuando cuida a otros.

  7. Leucemia—Versión para pacientes

    Cancer.gov

    Información del Instituto Nacional del Cáncer sobre el tratamiento de la leucemia, así como referencias a estudios clínicos, investigación, estadísticas y otros temas relacionados con este tipo de cáncer.

  8. Tensión postraumática relacionada con el cáncer (PDQ®)—Versión para profesionales de salud

    Cancer.gov

    Resumen de información revisada por expertos acerca de la tensión postraumática y síntomas relacionados en los pacientes con cáncer, sobrevivientes del cáncer y miembros de la familia. Se discuten la evaluación y tratamiento de estos síntomas.

  9. Tumores extracraneales de células germinativas—Versión para pacientes

    Cancer.gov

    Información del Instituto Nacional del Cáncer sobre el tratamiento del tumor extracraneal de células germinativas en los niños, así como referencias a estudios clínicos y otros temas relacionados.

  10. Tumores cerebrales—Versión para profesionales de salud

    Cancer.gov

    Información del Instituto Nacional del Cáncer para profesionales de salud sobre el tratamiento de los tumores cerebrales, así como referencias a estudios clínicos, estadísticas y otros temas relacionados con estos tipos de cáncer.

  11. Tumores cerebrales—Versión para pacientes

    Cancer.gov

    Información del Instituto Nacional del Cáncer sobre el tratamiento de los tumores cerebrales, así como referencias a estudios clínicos, estadísticas y otros temas relacionados con estos tipos de cáncer.

  12. Fungal Diseases

    MedlinePlus

    ... Outcomes Health Professionals Statistics More Resources en Español Definición Síntomas Las Personas en Riesgo y Prevención Fuentes Diagnóstico y Exámenes Tratamiento y Resultados Profesionales de la Salud Estadísticas C. neoformans Infection Definition Symptoms People at ...

  13. Aspergillosis

    MedlinePlus

    ... Outcomes Health Professionals Statistics More Resources en Español Definición Síntomas Las Personas en Riesgo y Prevención Fuentes Diagnóstico y Exámenes Tratamiento y Resultados Profesionales de la Salud Estadísticas C. neoformans Infection Definition Symptoms People at ...

  14. Mucormycosis (Zygomycosis)

    MedlinePlus

    ... Outcomes Health Professionals Statistics More Resources en Español Definición Síntomas Las Personas en Riesgo y Prevención Fuentes Diagnóstico y Exámenes Tratamiento y Resultados Profesionales de la Salud Estadísticas C. neoformans Infection Definition Symptoms People at ...

  15. Treatment and Outcomes of Aspergillosis

    MedlinePlus

    ... Outcomes Health Professionals Statistics More Resources en Español Definición Síntomas Las Personas en Riesgo y Prevención Fuentes Diagnóstico y Exámenes Tratamiento y Resultados Profesionales de la Salud Estadísticas C. neoformans Infection Definition Symptoms People at ...

  16. Fungal Diseases: Ringworm

    MedlinePlus

    ... Outcomes Health Professionals Statistics More Resources en Español Definición Síntomas Las Personas en Riesgo y Prevención Fuentes Diagnóstico y Exámenes Tratamiento y Resultados Profesionales de la Salud Estadísticas C. neoformans Infection Definition Symptoms People at ...

  17. Blastomycosis

    MedlinePlus

    ... Outcomes Health Professionals Statistics More Resources en Español Definición Síntomas Las Personas en Riesgo y Prevención Fuentes Diagnóstico y Exámenes Tratamiento y Resultados Profesionales de la Salud Estadísticas C. neoformans Infection Definition Symptoms People at ...

  18. Histoplasmosis

    MedlinePlus

    ... Outcomes Health Professionals Statistics More Resources en Español Definición Síntomas Las Personas en Riesgo y Prevención Fuentes Diagnóstico y Exámenes Tratamiento y Resultados Profesionales de la Salud Estadísticas C. neoformans Infection Definition Symptoms People at ...

  19. Pneumocystis Pneumonia

    MedlinePlus

    ... Outcomes Health Professionals Statistics More Resources en Español Definición Síntomas Las Personas en Riesgo y Prevención Fuentes Diagnóstico y Exámenes Tratamiento y Resultados Profesionales de la Salud Estadísticas C. neoformans Infection Definition Symptoms People at ...

  20. Treatment and Outcomes of Histoplasmosis

    MedlinePlus

    ... Outcomes Health Professionals Statistics More Resources en Español Definición Síntomas Las Personas en Riesgo y Prevención Fuentes Diagnóstico y Exámenes Tratamiento y Resultados Profesionales de la Salud Estadísticas C. neoformans Infection Definition Symptoms People at ...

  1. Valley Fever (Coccidioidomycosis)

    MedlinePlus

    ... Outcomes Health Professionals Statistics More Resources en Español Definición Síntomas Las Personas en Riesgo y Prevención Fuentes Diagnóstico y Exámenes Tratamiento y Resultados Profesionales de la Salud Estadísticas C. neoformans Infection Definition Symptoms People at ...

  2. Hacer frente - Obtener cuidados médicos de seguimiento

    Cancer.gov

    Información sobre los cuidados médicos de seguimiento después del tratamiento del cáncer. Trata sobre su plan de cuidados de seguimiento, cómo obtener un plan para el bienestar e incluye una guía para una vida saludable.

  3. Linfoma—Versión para profesionales de salud

    Cancer.gov

    Información del Instituto Nacional del Cáncer para profesionales de salud sobre el tratamiento del linfoma, así como referencias a estudios clínicos, investigación, estadísticas y otros temas relacionados con este tipo de cáncer.

  4. Hacer frente - Los sentimientos y el cáncer

    Cancer.gov

    El cáncer puede causar una amplia gama de sentimientos, ya sea que usted, un amigo o familiar esté en tratamiento ahora o que ya lo haya completado. Sugerencias para superar las muchas emociones causadas por el cáncer.

  5. Se lanza Red Nacional de Estudios Clínicos del NCI

    Cancer.gov

    El Instituto Nacional del Cáncer (NCI) puso en marcha una nueva red de investigación de estudios clínicos con el objetivo de mejorar el tratamiento de más de 1,6 millones de estadounidenses que reciben un diagnóstico de cáncer cada año.

  6. Cánceres poco comunes en la niñez (PDQ®)—Versión para pacientes

    Cancer.gov

    Resumen de información revisada por expertos acerca del tratamiento de los cánceres poco comunes en la niñez como los cánceres de la cabeza y el cuello, el tórax, el abdomen, el aparato reproductor, la piel y otros.

  7. Cáncer colorrectal—Versión para profesionales de salud

    Cancer.gov

    Información del Instituto Nacional del Cáncer para profesionales de salud sobre el tratamiento, la prevención, las causas y los exámenes de detección del cáncer de colon y recto, así como referencias a estudios clínicos, estadísticas y otros temas.

  8. Iniciativa de Respuestas Excepcionales: Preguntas y respuestas

    Cancer.gov

    El Instituto Nacional del Cáncer (NCI) emprendió la Iniciativa de Respuestas Excepcionales a fin de entender la base molecular de los tumores en pacientes de cáncer que responden en forma excepcional al tratamiento, principalmente quimioterapia.

  9. Neoplasias de células plasmáticas (incluso mieloma múltiple)—Versión para profesionales de salud

    Cancer.gov

    Información del Instituto Nacional del Cáncer para profesionales de salud sobre el tratamiento del mieloma múltiple y otras neoplasias de células plasmáticas, así como referencias a estudios clínicos, investigación, estadísticas y otros temas.

  10. Cáncer de la corteza suprarrenal—Versión para pacientes

    Cancer.gov

    Información del Instituto Nacional del Cáncer sobre el tratamiento del carcinoma de corteza suprarrenal, así como referencias a estudios clínicos, investigación y otros temas relacionados con este tipo de cáncer.

  11. Cáncer de tiroides—Versión para pacientes

    Cancer.gov

    Información del Instituto Nacional del Cáncer sobre el tratamiento del cáncer de tiroides, así como referencias a estudios clínicos, investigación y otros temas relacionados con este tipo de cáncer.

  12. Complicaciones gastrointestinales (PDQ®)—Versión para pacientes

    Cancer.gov

    Resumen de información revisada por expertos acerca del estreñimiento, impacción, obstrucción intestinal y diarrea como complicaciones del cáncer o su tratamiento. Se discute el manejo de estos problemas.

  13. Cáncer de riñón (células renales)—Versión para pacientes

    Cancer.gov

    Información del Instituto Nacional del Cáncer sobre el tratamiento del cáncer de riñón, así como referencias a estudios clínicos, investigación, estadísticas y otros temas relacionados con este tipo de cáncer.

  14. Cáncer de riñón (células renales)—Versión para profesionales de salud

    Cancer.gov

    Información del Instituto Nacional del Cáncer para profesionales de salud sobre el tratamiento del cáncer de riñón, así como referencias a estudios clínicos, investigación, estadísticas y otros temas relacionados con este tipo de cáncer.

  15. Cáncer de páncreas—Versión para profesionales de salud

    Cancer.gov

    Información del Instituto Nacional del Cáncer para profesionales de salud sobre el tratamiento del cáncer de páncreas, así como referencias a estudios clínicos, investigación y otros temas relacionados con este tipo de cáncer.

  16. Cáncer de páncreas—Versión para pacientes

    Cancer.gov

    Información del Instituto Nacional del Cáncer sobre el tratamiento del cáncer de páncreas, así como referencias a estudios clínicos, investigación y otros temas relacionados con este tipo de cáncer.

  17. Cáncer de cuello uterino—Versión para pacientes

    Cancer.gov

    Información del Instituto Nacional del Cáncer sobre el tratamiento, la prevención, las causas y los exámenes de detección del cáncer de cuello uterino, así como referencias a estudios clínicos, investigación, estadísticas y otros temas relacionados.

  18. Cáncer de vagina—Versión para profesionales de salud

    Cancer.gov

    Información del Instituto Nacional del Cáncer para profesionales de salud sobre el tratamiento del cáncer de vagina, así como referencias a estudios clínicos, investigación y otros temas relacionados con este tipo de cáncer.

  19. Cáncer de vagina—Versión para pacientes

    Cancer.gov

    Información del Instituto Nacional del Cáncer sobre el tratamiento del cáncer de vagina, así como referencias a estudios clínicos, investigación y otros temas relacionados con este tipo de cáncer.

  20. Cáncer de vulva—Versión para pacientes

    Cancer.gov

    Información del Instituto Nacional del Cáncer sobre el tratamiento del cáncer de vulva, así como referencias a estudios clínicos, investigación y otros temas relacionados con este tipo de cáncer.

  1. Cáncer de útero—Versión para pacientes

    Cancer.gov

    Información del Instituto Nacional del Cáncer sobre el tratamiento, la prevención, las causas y los exámenes de detección del cáncer uterino, así como referencias a estudios clínicos, investigación, estadísticas y otros temas relacionados.

  2. Neoplasias mielodisplásicas o mieloproliferativas (PDQ®)—Versión para pacientes

    Cancer.gov

    Resumen de información revisada por expertos acerca del tratamiento de las neoplasias mielodisplásicas o mieloproliferativas, incluso las leucemias mielomonocíticas crónicas o juveniles, y la LMC atípica.

  3. Neoplasias mielodisplásicas o mieloproliferativas (PDQ®)—Versión para profesionales de salud

    Cancer.gov

    Resumen de información revisada por expertos acerca del tratamiento de las neoplasias mielodisplásicas o mieloproliferativas, incluso las leucemias mielomonocítica crónica o juvenil y la LMC atípica.

  4. Enfermedad trofoblástica de la gestación—Versión para profesionales de salud

    Cancer.gov

    Información del Instituto Nacional del Cáncer para profesionales de salud sobre el tratamiento de la enfermedad trofoblástica de la gestación, así como referencias a estudios clínicos y otros temas relacionados.

  5. Leucemia—Versión para profesionales de salud

    Cancer.gov

    Información del Instituto Nacional del Cáncer para profesionales de salud sobre el tratamiento de la leucemia, así como referencias a estudios clínicos, investigación, estadísticas y otros temas relacionados con este tipo de cáncer.

  6. Centro para la Salud Mundial del NCI anuncia becas de investigación para tecnologías portátiles

    Cancer.gov

    El Centro para la Salud Mundial del NCI (CGH) anunció el otorgamiento de subvenciones que apoyarán el desarrollo y la validación de tecnologías portátiles y de bajo costo para mejorar la detección temprana, el diagnóstico y el tratamiento del cáncer.

  7. Complicaciones gastrointestinales (PDQ®)—Versión para profesionales de salud

    Cancer.gov

    Resumen de información revisada por expertos acerca del estreñimiento, la retención fecal, la obstrucción intestinal y la diarrea como complicaciones del cáncer o su tratamiento. Se discute el manejo de estos problemas.

  8. Terapia hormonal para el cáncer de seno

    Cancer.gov

    Hoja informativa que describe la terapia hormonal y su función en la prevención y tratamiento del cáncer de seno. Incluye información acerca de los efectos secundarios posibles y de los fármacos que pueden interferir con la terapia hormonal.

  9. Cánceres poco comunes en la niñez (PDQ®)—Versión para profesionales de salud

    Cancer.gov

    Resumen de información revisada por expertos acerca del tratamiento de los cánceres poco comunes en la niñez como los cánceres de la cabeza y el cuello, el tórax, el abdomen, el aparato reproductor, la piel y otros.

  10. Lo que usted necesita saber sobre™ el cáncer de cérvix

    Cancer.gov

    Contiene información sobre las opciones de tratamiento, la obtención de una segunda opinión, los cuidados de seguimiento y las fuentes de apoyo para alguien que ha sido diagnosticado recientemente con cáncer de cérvix o cuello uterino.

  11. Añadir quimioterapia después de la radioterapia mejora la supervivencia de adultos con un tipo de tu

    Cancer.gov

    Adultos con gliomas de grado bajo, una forma de tumor cerebral, que recibieron tratamiento con quimioterapia después de la radioterapia vivieron más tiempo que pacientes que recibieron solo radioterapia, según los resultados de seguimiento a largo plazo d

  12. Cáncer de riñón—Versión para pacientes

    Cancer.gov

    Información del Instituto Nacional del Cáncer sobre el tratamiento del cáncer de riñón, así como referencias a estudios clínicos, investigación, estadísticas y otros temas relacionados con este tipo de cáncer.

  13. Cuidados médicos de apoyo en niños (PDQ®)—Versión para profesionales de salud

    Cancer.gov

    Resumen de información revisada por expertos acerca de la peculiaridad de los asuntos que surgen durante y después del tratamiento en los niños con cáncer y como sobrevivientes adultos de cáncer.

  14. Cáncer colorrectal—Versión para pacientes

    Cancer.gov

    Información del Instituto Nacional del Cáncer sobre el tratamiento, la prevención, las causas y los exámenes de detección del cáncer de colon y recto, así como referencias a estudios clínicos, estadísticas y otros temas relacionados.

  15. Cáncer de piel (incluye el melanoma)—Versión para pacientes

    Cancer.gov

    Información del Instituto Nacional del Cáncer sobre el tratamiento, la prevención, las causas, los exámenes de detección y los estudios clínicos del cáncer de piel, así como referencias a otros temas relacionados con este tipo de cáncer.

  16. Neuropatía periférica inducida por quimioterapia

    Cancer.gov

    Artículo sobre un efecto secundario de la quimioterapia que causa dolor y malestar en las manos y los pies. También incluye información sobre los esfuerzos para mejorar las opciones de detección, tratamiento y prevención.

  17. Sarcoma de tejido blando—Versión para profesionales de salud

    Cancer.gov

    Información del Instituto Nacional del Cáncer para profesionales de salud sobre el tratamiento del sarcoma de tejido blando, así como referencias a estudios clínicos, investigación, estadísticas y otros temas relacionados con este tipo de cáncer.

  18. Sarcoma de tejido blando—Versión para pacientes

    Cancer.gov

    Información del Instituto Nacional del Cáncer sobre el tratamiento del sarcoma de tejido blando, así como referencias a estudios clínicos, investigación, estadísticas y otros temas relacionados con este tipo de cáncer.

  19. Qué tipos hay de estudios clínicos

    Cancer.gov

    Información sobre los diversos tipos de estudios clínicos de cáncer, como son los estudios de tratamiento, de prevención, de exámenes selectivos de detección, de cuidados médicos de apoyo y de cuidados paliativos.

  20. Tipos de cáncer

    Cancer.gov

    Lista alfabética de todos los tipos de cáncer con enlaces a enfermedades específicas e información general sobre tratamiento, cuidados de apoyo, exámenes de detección, prevención, estudios clínicos y otros temas.

  1. Terapia hormonal para el cáncer de próstata Hoja informativa

    Cancer.gov

    Hoja informativa que describe la terapia hormonal y su función en el tratamiento del cáncer de próstata. Incluye información acerca de los tipos diferentes de terapia hormonal, cómo se usan y los efectos secundarios posibles.

  2. Cáncer de vesícula biliar—Versión para pacientes

    Cancer.gov

    Información del Instituto Nacional del Cáncer sobre el tratamiento del cáncer de vesícula biliar, así como referencias a estudios clínicos, investigación y otros temas relacionados con este tipo de cáncer.

  3. Personal de enfermería asume diversas funciones con expansión de programas de gestión para pacientes

    Cancer.gov

    Artículo sobre los profesionales de enfermería oncológica que ayudan a los pacientes durante todas las etapas de la atención oncológica, desde los exámenes de detección y el diagnóstico, hasta el tratamiento y la supervivencia.

  4. Capacitación del personal y de los pacientes en torno a los cuidados terminales

    Cancer.gov

    Artículo sobre programas innovadores de base científica para ayudar a médicos y pacientes a hablar sobre la transición de un tratamiento activo para el cáncer a los cuidados en la etapa final de la vida.

  5. El NCI inicia un estudio para evaluar la utilidad de la secuenciación genética para mejorar los resu

    Cancer.gov

    El Instituto Nacional del Cáncer (NCI) lanzará este mes un estudio clínico piloto denominado M-PACT con la finalidad de evaluar si el tratamiento asignado según mutaciones genéticas específicas puede brindar beneficios a pacientes con tumores sólidos meta

  6. Neuropatía persistente aumenta el riesgo de caídas entre supervivientes de cáncer

    Cancer.gov

    Muchas mujeres supervivientes de cáncer tienen problemas de movilidad y de otras funciones físicas como resultado de la neuropatía periférica persistente causada por el tratamiento de quimioterapia, según un estudio nuevo.

  7. Hacer frente - Su imagen propia y su sexualidad

    Cancer.gov

    El cáncer y su tratamiento pueden cambiar la forma como usted se ve y siente de su persona y de su cuerpo. Puede tomar algunas medidas para superar los cambios de su cuerpo y problemas relacionados con su sexualidad e intimidad.

  8. Fatiga (PDQ®)—Versión para pacientes

    Cancer.gov

    Resumen de información revisada por expertos acerca de la fatiga, una afección caracterizada por extremo cansancio e incapacidad para funcionar por la falta de energía, que a menudo se observa como una complicación del cáncer y su tratamiento.

  9. Delirio (PDQ®)—Versión para pacientes

    Cancer.gov

    Resumen de información revisada por expertos acerca del delirio como una complicación del cáncer o su tratamiento. Se tratan enfoques de los cuidados médicos de apoyo y los abordajes farmacológicos para el manejo del delirio.

  10. Cuidados médicos de apoyo en niños (PDQ®)—Versión para pacientes

    Cancer.gov

    Resumen de información revisada por expertos acerca de la peculiaridad de los asuntos que surgen durante y después del tratamiento en los niños con cáncer, y como sobrevivientes adultos de cáncer.