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Sample records for aspiration syndrome due

  1. Neonatal aspiration syndrome due to vernix caseosa

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    Ohlsson, A.; Najjar, H.; Cumming, W.A.

    1985-01-01

    Fetal aspiration of meconium in amniotic fluid is a well-known cause of respiratory distress in newborn infants. It causes an irregular, coarse, nodular pattern on chest radiographs. Less known is that aspiration of vernix caseoasa causes a similar syncrome. We present a post-mature infant in whom aspiration of vernix caseosa caused respiratory distress, ventilatory difficulty, and radiographic changes essentially the same as aspiration of meconium. (orig.)

  2. Neonatal aspiration syndrome due to vernix caseosa

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    Ohlsson, A.; Najjar, H.; Cumming, W.A.

    1985-02-01

    Fetal aspiration of meconium in amniotic fluid is a well-known cause of respiratory distress in newborn infants. It causes an irregular, coarse, nodular pattern on chest radiographs. Less known is that aspiration of vernix caseoasa causes a similar syncrome. We present a post-mature infant in whom aspiration of vernix caseosa caused respiratory distress, ventilatory difficulty, and radiographic changes essentially the same as aspiration of meconium.

  3. Time-dependent changes in pulmonary surfactant function and composition in acute respiratory distress syndrome due to pneumonia or aspiration

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    Kuchenbuch Tim

    2007-07-01

    Full Text Available Abstract Background Alterations to pulmonary surfactant composition have been encountered in the Acute Respiratory Distress Syndrome (ARDS. However, only few data are available regarding the time-course and duration of surfactant changes in ARDS patients, although this information may largely influence the optimum design of clinical trials addressing surfactant replacement therapy. We therefore examined the time-course of surfactant changes in 15 patients with direct ARDS (pneumonia, aspiration over the first 8 days after onset of mechanical ventilation. Methods Three consecutive bronchoalveolar lavages (BAL were performed shortly after intubation (T0, and four days (T1 and eight days (T2 after intubation. Fifteen healthy volunteers served as controls. Phospholipid-to-protein ratio in BAL fluids, phospholipid class profiles, phosphatidylcholine (PC molecular species, surfactant proteins (SP-A, -B, -C, -D, and relative content and surface tension properties of large surfactant aggregates (LA were assessed. Results At T0, a severe and highly significant reduction in SP-A, SP-B and SP-C, the LA fraction, PC and phosphatidylglycerol (PG percentages, and dipalmitoylation of PC (DPPC was encountered. Surface activity of the LA fraction was greatly impaired. Over time, significant improvements were encountered especially in view of LA content, DPPC, PG and SP-A, but minimum surface tension of LA was not fully restored (15 mN/m at T2. A highly significant correlation was observed between PaO2/FiO2 and minimum surface tension (r = -0.83; p Conclusion We concluded that a profound impairment of pulmonary surfactant composition and function occurs in the very early stage of the disease and only gradually resolves over time. These observations may explain why former surfactant replacement studies with a short treatment duration failed to improve outcome and may help to establish optimal composition and duration of surfactant administration in future

  4. Turban pin aspiration: new fashion, new syndrome.

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    Ilan, Ophir; Eliashar, Ron; Hirshoren, Nir; Hamdan, Kasem; Gross, Menachem

    2012-04-01

    Turban pin aspiration syndrome is a new clinical entity afflicting young Islamic girls wearing a turban.The goal of this study was to present our experience in diagnosis and treatment of this new entity, define its clinical and epidemiologic features, and shed a new light on the role of fashion in the increased incidence. A retrospective study in a tertiary university hospital. Review of clinical parameters and epidemiologic features of 26 patients diagnosed with turban pin aspiration syndrome admitted to the Hadassah-Hebrew University Hospitals in Jerusalem from 1990 to 2010. All patients were Muslim females with an average age of 16 years. In all cases, the history was positive for accidental aspiration. Most of the pins were located in the trachea (42%). In 20 cases, the pins were extracted by rigid bronchoscopy without major complications. Fluoroscopy-assisted rigid bronchoscopy was used successfully in three cases. In one case, the object was self-ejected by coughing before the bronchoscopy, and two patients were referred to the chest unit for thoracotomy. Clinicians should be aware of this distinct form of foreign body aspiration, its method of diagnosis, and extraction techniques. A cultural investigation showed a difference in the turban-fastening technique of young girls as compared with their mothers. Removal by rigid bronchoscopy is a safe method with a high success rate and should be considered as the preferred extraction method of choice. Copyright © 2012 The American Laryngological, Rhinological, and Otological Society, Inc.

  5. Lipid aspiration pneumonia due to gastroesophageal reflux

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    Wolfson, B.J.; Temple Univ., Philadelphia, PA; Allen, J.L.; Panitch, H.B.; Temple Univ., Philadelphia, PA; Karmazin, N.; Temple Univ., Philadelphia, PA

    1989-01-01

    The development of lipid aspiration pneumonia after chronic nasopharyngeal installation of mineral oil was first described in 1925 by Laughlin. Since that time this entity has been well recognized and numerous substances have been identified or implicated as the aspirated material. The classic radiographic appearance of severe chronic lipid aspiration pneumonia has been described as consisting of intense perihilar infiltrates. However, the radiographic findings are more often non-specific and usually consist of varying degrees of diffuse interstitial infiltrates that tend to be more prominent in the perihilar regions and the right lung. We are reporting a case of biopsy-proven lipid aspiration pneumonia in an infant with known gastro-esophageal reflux (GER) who had medium-chain triglyceride oil administered via nasogastric tube. Serial roentgenograms demonstrated a changing pulmonary pattern from diffuse bilateral interstitial infiltrates initially to a diffuse alveolar pattern at the time of the lung biopsy. Modern medicine has developed new methods for providing nourishment to sick newborns and infants to improve their nutritional status and help them to grow. One such method involves the administration of medium-chain triglycerides (MCT oil) into the GI tract via a nasogastric or nasoenteral tube. The purpose of this report is to describe a significant complication of this method of providing nutrition to an infant with gastroesophageal reflux (GER) and the diagnostic dilemma it presented. (orig.)

  6. Recurrent Aspiration Pneumonia due to Anterior Cervical Osteophyte

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    Jae Jun Lee

    2017-02-01

    Full Text Available A 74-year-old man presented with recurrent vomiting and aspiration pneumonia in the left lower lobe. He entered the intensive care unit to manage the pneumonia and septic shock. Although a percutaneous endoscopic gastrostomy tube was implanted for recurrent vomiting, vomiting and aspiration recurred frequently during admission. Subsequently, he complained of neck pain when in an upright position. A videofluoroscopic swallowing study showed compression of the esophagus by cervical osteophytes and tracheal aspiration caused by an abnormality at the laryngeal inlet. Cervical spine X-rays and computed tomography showed anterior cervical osteophytes at the C3-6 levels. Surgical decompression was scheduled, but was cancelled due to his frailty. Unfortunately, further recurrent vomiting and aspiration resulted in respiratory arrest leading to hypoxic brain damage and death. Physicians should consider cervical spine disease, such as diffuse skeletal hyperostosis as an uncommon cause of recurrent aspiration pneumonia.

  7. Bone marrow aspiration

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    Iliac crest tap; Sternal tap; Leukemia - bone marrow aspiration; Aplastic anemia - bone marrow aspiration; Myelodysplastic syndrome - bone marrow aspiration; Thrombocytopenia - bone marrow aspiration; Myelofibrosis - bone marrow aspiration

  8. Surfactant therapy for maternal blood aspiration: an unusual cause of neonatal respiratory distress syndrome.

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    Celik, Istemi Han; Demirel, Gamze; Canpolat, Fuat Emre; Erdeve, Omer; Dilmen, Ugur

    2012-10-01

    Surfactant replacement therapy is the main treatment of neonatal respiratory distress syndrome. However, surfactant therapy has been shown to be effective in the treatment of other diseases causing neonatal respiratory diseases such as pulmonary hemorrhage, meconium aspiration syndrome, pneumonia/sepsis, pulmonary edema or acute lung injury resulting a secondary surfactant deficiency (SSD). Rarely, as like as in the present patient, exogenous blood aspiration such as breast milk or formula aspiration may lead to SSD. Blood in alveolus leads to a significant biochemical and functional disturbance of the surfactant system and inhibits surfactant production. Here, the authors report a preterm infant of 33 wk gestational age with secondary surfactant deficiency due to maternal blood aspiration because of abruptio placentae. She was received two courses of beractant, a natural bovine surfactant, therapy in 24 h. She was extubated on second day and did not require oxygen on 4(th) day. To the authors' knowledge, this is the first reported case of SSD due to maternal blood aspiration treated with surfactant. In conditions such as abruptio placentae, infant should be protected from blood aspiration and if respiratory distress occurs, surfactant inhibition and need for surfactant administration should be considered.

  9. Amnioinfusion for the prevention of the meconium aspiration syndrome.

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    Fraser, William D; Hofmeyr, Justus; Lede, Roberto; Faron, Gilles; Alexander, Sophie; Goffinet, François; Ohlsson, Arne; Goulet, Céline; Turcot-Lemay, Lucile; Prendiville, Walter; Marcoux, Sylvie; Laperrière, Louise; Roy, Chantal; Petrou, Stavros; Xu, Hai-Rong; Wei, Bin

    2005-09-01

    It is uncertain whether amnioinfusion (infusion of saline into the amniotic cavity) in women who have thick meconium staining of the amniotic fluid reduces the risk of perinatal death, moderate or severe meconium aspiration syndrome, or both. We performed a multicenter trial in which 1998 pregnant women in labor at 36 or more weeks of gestation who had thick meconium staining of the amniotic fluid were stratified according to the presence or absence of variable decelerations in fetal heart rate and then randomly assigned to amnioinfusion or to standard care. The composite primary outcome measure was perinatal death, moderate or severe meconium aspiration syndrome, or both. Perinatal death, moderate or severe meconium aspiration syndrome, or both occurred in 44 infants (4.5 percent) of women in the amnioinfusion group and 35 infants (3.5 percent) of women in the control group (relative risk, 1.26; 95 percent confidence interval, 0.82 to 1.95). Five perinatal deaths occurred in the amnioinfusion group and five in the control group. The rate of cesarean delivery was 31.8 percent in the amnioinfusion group and 29.0 percent in the control group (relative risk, 1.10; 95 percent confidence interval, 0.96 to 1.25). For women in labor who have thick meconium staining of the amniotic fluid, amnioinfusion did not reduce the risk of moderate or severe meconium aspiration syndrome, perinatal death, or other major maternal or neonatal disorders. Copyright 2005 Massachusetts Medical Society.

  10. High frequency oscillatory ventilation in meconium aspiration syndrome

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    José Nona

    2009-03-01

    Full Text Available Objective: To evaluate and compare the management and associated morbidity in inborn and outborn babies with meconium aspiration syndrome admitted to the Neonatal Intensive Care Unit and ventilated with high frequency oscillatory ventilation. Methods: A retrospective cohort study with a review of clinical data from newborns, admitted to the Neonatal Intensive Care Unit during a six-year period (from 1999 to 2004 and ventilated with early high frequency oscillatory ventilation, first intention in inborns and immediately after Neonatal Intensive Care Unit arrival in outborns. Rresults: In the present study, 27 newborns were included: 12 inborn and 15 outborn infants. Severity criteria were similar in both groups. The pulmonary morbidity associated was severe persistent pulmonary hypertension - 12 (seven outborns, pneumothorax - five (three outborns, interstitial emphysema – two (one outborn and pulmonary hemorrhage – one outborn. Hypoxic-ischemic encephalopathy II-III occurred in six newborns (four outborns. The therapeutic procedures were surfactant administration in 22 newborns (13 outborns, nitric oxide in 12 newborns (7 outborns and magnesium sulphate in four newborns (three outborns. The median length of ventilation was six days (inborn infants: four and half days; outborn infants: ten days and the median length of oxygenation supply was ten days (inborn infants: four and half days; outborn infants: 15 days. The median length of stay was 13 days (inborn infants: 11 days; outborn infants: 16 days. One outborn infant died. Cconclusions: With this ventilation strategy, we have found no significant statistical differences between the two newborn groups, except for the length of oxygenation supply that was longer in the Outborn Group.

  11. Paraneoplastic Cushing Syndrome Due To Wilm's Tumor.

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    Faizan, Mahwish; Manzoor, Jaida; Saleem, Muhammad; Anwar, Saadia; Mehmood, Qaiser; Hameed, Ambreen; Ali, Agha Shabbir

    2017-05-01

    Paraneoplastic syndromes are rare disorders that are triggered by an altered immune system response to neoplasm. Paraneoplastic syndromes may be the first or the most prominent manifestations of cancer. Wilm's tumor is the most frequent pediatric renal malignancy and usually presents with abdominal mass. Unusual presentations like acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome have been described in the literature. Cushing syndrome, as the presenting symptom of a malignant renal tumor in children, is a very rare entity. Few case reports are available in the literature exploring the option of preoperative chemotherapy as well as upfront nephrectomy. We report a rare case of paraneoplastic Cushing syndrome due to a Wilm's tumor. Based on gradual decrease of postoperative weight, blood pressure, serum adrenocorticotropic hormone, and plasma cortisol levels, along with histological confirmation of Wilm's tumor, paraneoplastic Cushing syndrome due to Wilm's tumor was confirmed.

  12. Paraneoplastic cushing syndrome due to wilm's tumor

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    Faizan, M.; Anwar, S.; Hameed, A.; Manzoor, J.; Saleem, M.; Mehmood, Q.; Ali, A. S.

    2017-01-01

    Paraneoplastic syndromes are rare disorders that are triggered by an altered immune system response to neoplasm. Paraneoplastic syndromes may be the first or the most prominent manifestations of cancer. Wilm's tumor is the most frequent pediatric renal malignancy and usually presents with abdominal mass. Unusual presentations like acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome have been described in the literature. Cushing syndrome, as the presenting symptom of a malignant renal tumor in children, is a very rare entity. Few case reports are available in the literature exploring the option of preoperative chemotherapy as well as upfront nephrectomy. We report a rare case of paraneoplastic Cushing syndrome due to a Wilm's tumor. Based on gradual decrease of postoperative weight, blood pressure, serum adrenocorticotropic hormone, and plasma cortisol levels, alongwith histological confirmation of Wilm's tumor, paraneoplastic Cushing syndrome due to Wilm's tumor was confirmed. (author)

  13. Bronchoalveolar lavage with diluted porcine surfactant in mechanically ventilated term infants with meconium aspiration syndrome.

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    Lista, Gianluca; Bianchi, Silvia; Castoldi, Francesca; Fontana, Paola; Cavigioli, Francesco

    2006-01-01

    To evaluate the efficacy and safety of bronchoalveolar lavage (BAL) with diluted porcine surfactant in mechanically ventilated term infants with severe acute respiratory distress syndrome (ARDS) due to meconium aspiration syndrome (MAS). Eight consecutive mechanically ventilated term infants with severe ARDS due to MAS underwent BAL with 15 mL/kg of diluted (5.3mg phospholipid/mL) surfactant saline suspension (porcine surfactant [Curosurf]). Treatment was administered slowly in aliquots of 2.5 mL. The mean age of neonates at treatment was 3.5 (range 1-8) hours. Heart rate, systemic blood pressure and oxygen saturation were monitored continuously. Arterial blood gases were measured immediately before treatment, and again at 3 and 6 hours post-treatment. Chest x-rays were taken 6 and 24 hours after treatment. Radiological improvement was evident in all eight patients 6 hours post-treatment. Compared with pre-BAL values, significant improvements (p fluids that had been meconium-stained prior to BAL were clear of meconium after BAL. Only one patient required nitric oxide therapy for transient pulmonary hypertension. No adverse sequelae of treatment occurred during the study. BAL with dilute porcine surfactant administered slowly in 2.5 mL aliquots improved oxygenation and chest x-ray findings, without causing major adverse effects, in mechanically ventilated term infants with ARDS due to MAS.

  14. [Tracheobronchial lavage--a supplementary measure in the initial management of meconium aspiration syndrome].

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    Rosegger, H; Engele, H; Haas, J

    1987-12-18

    Pulmonary lavage - a supplementary measure of resuscitation in newborn infants with severe aspiration of meconium stained amniotic fluid. During 1984-1985 150 mature newborn infants who had aspirated heavily-stained or pea soup-like amniotic fluid were resuscitated at the University Hospital of Obstetrics and Gynaecology in Graz. In 109 of these infants (controls) routine aspiration of both the upper and lower airways was accomplished as soon as possible, whilst in the remaining 41 infants (lavaged) pulmonary lavage with saline was additionally performed via an endotracheal tube after aspiration to clear the trachea and the upper bronchi from thick meconium which could not have been removed as efficiently otherwise. The incidence of manifest meconium aspiration syndrome was significantly higher (22%) in the lavaged infants than in the controls (8%). Mechanical ventilation was performed in 36% of the lavaged infants, whereas only 5.5% of the controls had to be ventilated for more than 1 hour. The mean duration of ventilation, however, was shorter (Mh = 5.1 hrs vs Mh = 69 hrs) and the average age at discharge lower in the lavaged. Three infants died, two of whom had severe malformations. Only one death in the lavaged infants was attributable to severe meconium aspiration syndrome already manifest at birth. Three infants (two lavaged, one control) showed radiological evidence of pneumothorax, but without clinical appearance of respiratory distress. Since the lavaged group naturally contained the more severely distressed infants, with a high incidence of caesarean section on account of intrauterine asphyxia and lower Apgar scores at one and five minutes, the high incidence of radiologically confirmed meconium aspiration syndrome was not surprising.(ABSTRACT TRUNCATED AT 250 WORDS)

  15. An Adult Patient with Pneumonia Due to Aspiration of Dental Prosthesis

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    Samil Gunay

    2014-03-01

    Full Text Available In patients with a new and suddenly beginning of bronchial asthma and repetitive respiratory infection, one should consider the possibility of obstruction by a foreign body. In this case we present a male patient with pneumonia due to aspiration of dental prosthesis. A 32-year-old man presented with a 4-month history of dyspnea, chest pain and new    compliants of diaphoresis and fever persistend despite of antibiotic treatment. Then the patient consultated to our chest surgery department. After the physical examination of patient we made the fiberoptic  flexible bronchoscopy according to the uncertain opasity seen in the chest radiography. Later in the operating room, with the patient under general anesthesia, we extracted the aspirated foreign body, dental prosthesis, by rigid bronchoscopy. We should think about the possibility of foreign body aspiration for the patients with suddenly beginning of the complaints such as, bronchial asthma, repetitive respiratory infection, diaphoresis, chest pain and fever. Sometimes people hides the true anamnesis because of be ashamed or amnesia.

  16. Continuous positive airway pressure and conventional mechanical ventilation in the treatment of meconium aspiration syndrome.

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    Goldsmith, J P

    2008-12-01

    Meconium aspiration syndrome (MAS) is a complex syndrome that ranges in severity from mild respiratory distress to severe respiratory failure, persistent pulmonary hypertension of the newborn and sometimes death. Understanding of the syndrome's complicated pathophysiology will help determine the appropriate treatment strategy, including the use of continuous positive airway pressure (CPAP), conventional mechanical ventilation (CMV) and other therapies. Approximately 30 to 50% of infants diagnosed with MAS will require CPAP or mechanical ventilation. The optimum modes of ventilation for MAS are not known. Very few studies have been conducted to determine 'best' ventilatory strategies. Despite the introduction, over the last two decades, of innovative ventilatory treatments for this disease (for example, surfactant, high-frequency ventilation, inhaled nitric oxide, extracorporeal membrane oxygenation), the majority of infants can be successfully managed with CPAP or mechanical ventilation alone.

  17. Percutaneous Manual Aspiration Embolectomy of Renal Vein Thrombosis Due to Acute Pyelonephritis

    International Nuclear Information System (INIS)

    Novelli, Luigi; Raynaud, Alain; Pellerin, Olivier; Carreres, Thierry; Sapoval, Marc

    2007-01-01

    We report the case of a 50-year-old man who presented to our institution with septic thrombosis of the renal vein which had not resolved despite several days of antibiotic therapy. Optimal restoration of renal vein flow was obtained by percutaneous manual aspiration embolectomy (PMAE) in this patient with contraindication to fibrinolytic therapy and surgery

  18. Lipid aspiration pneumonia due to gastroesophageal reflux. An unusual radiographic appearance

    Energy Technology Data Exchange (ETDEWEB)

    Wolfson, B.J.; Allen, J.L.; Panitch, H.B.; Karmazin, N.

    1989-08-01

    The development of lipid aspiration pneumonia after chronic nasopharyngeal installation of mineral oil was first described in 1925 by Laughlin. Since that time this entity has been well recognized and numerous substances have been identified or implicated as the aspirated material. The classic radiographic appearance of severe chronic lipid aspiration pneumonia has been described as consisting of intense perihilar infiltrates. However, the radiographic findings are more often non-specific and usually consist of varying degrees of diffuse interstitial infiltrates that tend to be more prominent in the perihilar regions and the right lung. We are reporting a case of biopsy-proven lipid aspiration pneumonia in an infant with known gastro-esophageal reflux (GER) who had medium-chain triglyceride oil administered via nasogastric tube. Serial roentgenograms demonstrated a changing pulmonary pattern from diffuse bilateral interstitial infiltrates initially to a diffuse alveolar pattern at the time of the lung biopsy. Modern medicine has developed new methods for providing nourishment to sick newborns and infants to improve their nutritional status and help them to grow. One such method involves the administration of medium-chain triglycerides (MCT oil) into the GI tract via a nasogastric or nasoenteral tube. The purpose of this report is to describe a significant complication of this method of providing nutrition to an infant with gastroesophageal reflux (GER) and the diagnostic dilemma it presented. (orig.).

  19. Aspiration, Localized Pulmonary Inflammation, and Predictors of Early-Onset Bronchiolitis Obliterans Syndrome after Lung Transplantation

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    Fisichella, P Marco; Davis, Christopher S; Lowery, Erin; Ramirez, Luis; Gamelli, Richard L; Kovacs, Elizabeth J

    2014-01-01

    BACKGROUND We hypothesized that immune mediator concentrations in the bronchoalveolar fluid (BALF) are predictive of bronchiolitis obliterans syndrome (BOS) and demonstrate specific patterns of dysregulation, depending on the presence of acute cellular rejection, BOS, aspiration, and timing of lung transplantation. STUDY DESIGN We prospectively collected 257 BALF samples from 105 lung transplant recipients. The BALF samples were assessed for absolute and differential white blood cell counts and 34 proteins implicated in pulmonary immunity, inflammation, fibrosis, and aspiration. RESULTS There were elevated BALF concentrations of interleukin (IL)-15, IL-17, basic fibroblast growth factor, tumor necrosis factor–α, and myeloperoxidase, and reduced concentrations of α1-antitrypsin, which were predictive of early-onset BOS. Patients with BOS had an increased percentage of BALF lymphocytes and neutrophils, with a reduced percentage of macrophages (p < 0.05). The BALF concentrations of IL-1β; IL-8; interferon-γ–induced protein 10; regulated upon activation, normal T-cell expressed and secreted; neutrophil elastase; and pepsin were higher in patients with BOS (p < 0.05). Among those with BOS, BALF concentrations of IL-1RA; IL-8; eotaxin; interferon-γ–induced protein 10; regulated upon activation, normal T-cell expressed and secreted; myeloperoxidase; and neutrophil elastase were positively correlated with time since transplantation (p < 0.01). Those with worse grades of acute cellular rejection had an increased percentage of lymphocytes in their BALF (p < 0.0001) and reduced BALF concentrations of IL-1β, IL-7, IL-9, IL-12, granulocyte colony-stimulating factor, granulocyte-macrophage colony-stimulating factor, interferon-γ, and vascular endothelial growth factor (p ≤ 0.001). Patients with aspiration based on detectable pepsin had increased percentage of neutrophils (p < 0.001) and reduced BALF concentrations of IL-12 (p < 0.001). CONCLUSIONS The BALF levels

  20. Extracellular histones play an inflammatory role in acid aspiration-induced acute respiratory distress syndrome.

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    Zhang, Yanlin; Wen, Zongmei; Guan, Li; Jiang, Ping; Gu, Tao; Zhao, Jinyuan; Lv, Xin; Wen, Tao

    2015-01-01

    Systemic inflammation is a key feature in acid aspiration-induced acute respiratory distress syndrome (ARDS), but the factors that trigger inflammation are unclear. The authors hypothesize that extracellular histones, a newly identified inflammatory mediator, play important roles in the pathogenesis of ARDS. The authors used a hydrochloric acid aspiration-induced ARDS model to investigate whether extracellular histones are pathogenic and whether targeting histones are protective. Exogenous histones and antihistone antibody were administered to mice. Heparin can bind to histones, so the authors studied whether heparin could protect from ARDS using cell and mouse models. Furthermore, the authors analyzed whether extracellular histones are clinically involved in ARDS patients caused by gastric aspiration. Extracellular histones in bronchoalveolar lavage fluid of acid-treated mice were significantly higher (1.832 ± 0.698) at 3 h after injury than in sham-treated group (0.63 ± 0.153; P = 0.0252, n = 5 per group). Elevated histones may originate from damaged lung cells and neutrophil infiltration. Exogenous histones aggravated lung injury, whereas antihistone antibody markedly attenuated the intensity of ARDS. Notably, heparin provided a similar protective effect against ARDS. Analysis of plasma from ARDS patients (n = 21) showed elevated histones were significantly correlated with the degree of ARDS and were higher in nonsurvivors (2.723 ± 0.2933, n = 7) than in survivors (1.725 ± 0.1787, P = 0.006, n = 14). Extracellular histones may play a contributory role toward ARDS by promoting tissue damage and systemic inflammation and may become a novel marker reflecting disease activity. Targeting histones by neutralizing antibody or heparin shows potent protective effects, suggesting a potentially therapeutic strategy.

  1. Nicolau syndrome due to hyaluronic acid injections.

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    Andre, Pierre; Haneke, Eckart

    2016-08-01

    Six cases of vascular compromise after hyaluronic injection are reported. Clinical symptoms realized a Nicolau syndrome, which is characterized by immediate pain, livedoid pattern and a few days later by the appearance of scabs and skin necrosis. This type of complication is rare, but may be dramatic and injectors must be aware of that. A thorough knowledge of facial anatomy is mandatory to avoid the risky facial areas. The use of a flexible cannula instead of a sharp needle has much less risk of hurting vessels and must be preferred. The support of the patient is discussed and a treatment protocol is proposed.

  2. Percutaneous aspiration thrombectomy with adjunctive venoplasty for iliac vein compression syndrome with lower extremity deep venous thrombosis

    International Nuclear Information System (INIS)

    Wang Yiping; Zhang Xiquan; Sun Yequan

    2013-01-01

    Objective: To investigate the clinical effect of mechanical aspiration thrombectomy with adjunctive PTA and stenting for iliac vein compression syndrome with lower extremity deep venous thrombosis. Materials and Methods: The clinical data of 184 patients who had iliac vein compression syndrome with lower extremity DVT were analyzed retrospectively. The healthy femoral vein was accessed, then a 12-14 F sheath was introduced via a guide wire to aspirate thrombus in the iliofemoral; For the cases with femoropopliteal thrombus, the thrombus was macerated and pulled by Fogarty balloon catheter, then performing mechanical aspiration thrombectomy. After thrombus removal, PTA and stenting were performed on stenosis or occlusion of common iliac vein that displayed on venography. Results: The thrombus removal rate: Grade Ⅲ 80.89% and Grade Ⅱ 19.02%. The circumference of affected limbs at 15 cm above and below knee joints were (43.9±4.7) cm and (31.5±4.1) cm, respectively, after being discharged from hospital, the differences were statistical significance (t=6.43, t=-5.79, both P=0.000)compared to be hospitalized. The follow -up result: the treatment efficiency was 97.75%. The stent patency rate of postoperation at 6, 12, and 24 months were 97.19%, 94.94%, 92.13%, respectively, on sonography or digital subtract angiography. Conclusion: Mechanical aspiration thrombectomy with adjunctive venoplasty for iliac vein compression syndrome with lower extremity deep venous thrombosis is an effective and safe therapy having notable therapeutic effect in short l middle-term follow-up and shorter hospitalization time. (authors)

  3. Clinical predictors of lacunar syndrome not due to lacunar infarction

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    Comes Emili

    2010-05-01

    Full Text Available Background Lacunar syndrome not due to lacunar infarct is poorly characterised. This single centre, retrospective study was conducted to describe the clinical characteristics of patients with lacunar syndrome not due to lacunar infarct and to identify clinical predictors of this variant of lacunar stroke. Methods A total of 146 patients with lacunar syndrome not due to lacunar infarction were included in the "Sagrat Cor Hospital of Barcelona Stroke Registry" during a period of 19 years (1986-2004. Data from stroke patients are entered in the stroke registry following a standardized protocol with 161 items regarding demographics, risk factors, clinical features, laboratory and neuroimaging data, complications and outcome. The characteristics of these 146 patients with lacunar syndrome not due to lacunar infarct were compared with those of the 733 patients with lacunar infarction. Results Lacunar syndrome not due to lacunar infarct accounted for 16.6% (146/879 of all cases of lacunar stroke. Subtypes of lacunar syndromes included pure motor stroke in 63 patients, sensorimotor stroke in 51, pure sensory stroke in 14, atypical lacunar syndrome in 9, ataxic hemiparesis in 5 and dysarthria-clumsy hand in 4. Valvular heart disease, atrial fibrillation, sudden onset, limb weakness and sensory symptoms were significantly more frequent among patients with lacunar syndrome not due to lacunar infarct than in those with lacunar infarction, whereas diabetes was less frequent. In the multivariate analysis, atrial fibrillation (OR = 4.62, sensorimotor stroke (OR = 4.05, limb weakness (OR = 2.09, sudden onset (OR = 2.06 and age (OR = 0.96 were independent predictors of lacunar syndrome not due to lacunar infarct. Conclusions Although lacunar syndromes are highly suggestive of small deep cerebral infarctions, lacunar syndromes not due to lacunar infarcts are found in 16.6% of cases. The presence of sensorimotor stroke, limb weakness and sudden onset in a patient

  4. Deterimental complication of meconium aspiration syndrome and their impact on outcome

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    Shaikh, M.; Waheed, K.A.I.; Javaid, S.; Gul, R.

    2016-01-01

    Meconium aspiration syndrome (MAS) is respiratory distress in an infant born through meconium stained amniotic fluid (MSAF) whose signs cannot be otherwise explained. MAS is associated with different complications. Many studies have been conducted in developed world to find the outcome associated with MAS but data from developing countries is lacking. Present study was conducted to determine the impact of chemical pneumonitis, pulmonary hypertension (PHN) and air leak on outcome of new-borns with MAS. Methods: This cross sectional descriptive study was conducted in a tertiary care Neonatology unit. The babies diagnosed with MAS were included in the study. All patients were monitored for development of complications. Outcome in terms of mortality was recorded. Outcome was compared by chi-square test and p-value <0.05 is considered significant. Results: Seventy two babies were included in the study. Mean gestation was 37 ± 0.56 weeks and birth weight was 2.87 ± 0.49 kg. Male to female ratio was 1.57:1 and mean age of admission was 9.59 ± 5.27 hours. Chemical pneumonitis, PHN and chemical pneumonitis with PHN were observed in 23.6%, 20.8% and 26.4% neonates respectively. Mortality rate was 19.44%. The mortality was highest in babies having chemical pneumonitis with PHN (p-value=0.013) followed by chemical pneumonitis group (p-value=0.02) and PHN group (p-value=0.032). Conclusion: About three fourth babies with MAS developed one or more complications. Mortality is significantly increases with the development of complications so as more the complications more is the mortality. (author)

  5. Hypothermic total liquid ventilation after experimental aspiration-associated acute respiratory distress syndrome.

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    Rambaud, Jérôme; Lidouren, Fanny; Sage, Michaël; Kohlhauer, Matthias; Nadeau, Mathieu; Fortin-Pellerin, Étienne; Micheau, Philippe; Zilberstein, Luca; Mongardon, Nicolas; Ricard, Jean-Damien; Terada, Megumi; Bruneval, Patrick; Berdeaux, Alain; Ghaleh, Bijan; Walti, Hervé; Tissier, Renaud

    2018-05-02

    Ultrafast cooling by total liquid ventilation (TLV) provides potent cardio- and neuroprotection after experimental cardiac arrest. However, this was evaluated in animals with no initial lung injury, whereas out-of-hospital cardiac arrest is frequently associated with early-onset pneumonia, which may lead to acute respiratory distress syndrome (ARDS). Here, our objective was to determine whether hypothermic TLV could be safe or even beneficial in an aspiration-associated ARDS animal model. ARDS was induced in anesthetized rabbits through a two-hits model including the intra-tracheal administration of a pH = 1 solution mimicking gastric content and subsequent gaseous non-protective ventilation during 90 min (tidal volume [Vt] = 10 ml/kg with positive end-expiration pressure [PEEP] = 0 cmH 2 O). After this initial period, animals either received lung protective gas ventilation (LPV; Vt = 8 ml/kg and PEEP = 5 cmH 2 O) under normothermic conditions, or hypothermic TLV (TLV; Vt = 8 ml/kg and end-expiratory volume = 15 ml/kg). Both strategies were applied for 120 min with a continuous monitoring of respiratory and cardiovascular parameters. Animals were then euthanized for pulmonary histological analyses. Eight rabbits were included in each group. Before randomization, all animals elicited ARDS with arterial oxygen partial pressure over inhaled oxygen fraction ratios (PaO 2 /FiO 2 ) below 100 mmHg, as well as decreased lung compliance. After randomization, body temperature rapidly decreased in TLV versus LPV group (32.6 ± 0.6 vs. 38.2 ± 0.4 °C after 15 min). Static lung compliance and gas exchanges were not significantly different in the TLV versus LPV group (PaO 2 /FiO 2  = 62 ± 4 vs. 52 ± 8 mmHg at the end of the procedure, respectively). Mean arterial pressure and arterial bicarbonates levels were significantly higher in TLV versus LPV. Histological analysis also showed significantly lower inflammation in

  6. Rapid test for lung maturity, based on spectroscopy of gastric aspirate, predicted respiratory distress syndrome with high sensitivity

    DEFF Research Database (Denmark)

    Verder, Henrik; Heiring, Christian; Clark, Howard

    2017-01-01

    AIM: Respiratory distress syndrome (RDS) is a major cause of mortality and morbidity in premature infants. By the time symptoms appear, it may already be too late to prevent a severe course, with bronchopulmonary dysplasia or mortality. We aimed to develop a rapid test of lung maturity...... for targeting surfactant supplementation. METHODS: Concentrations of the most surface-active lung phospholipid dipalmitoylphosphatidylcholine and sphingomyelin in gastric aspirates from premature infants were measured by mass spectrometry and expressed as the lecithin/sphingomyelin ratio (L/S). The same...

  7. Mugwort-Mustard Allergy Syndrome due to Broccoli Consumption

    Directory of Open Access Journals (Sweden)

    Yuri Sugita

    2016-01-01

    Full Text Available Pollen-food allergy syndrome (PFAS is a relatively rare form of food allergy which develops in individuals who are sensitized to pollen. Tree pollens, especially birch pollen, frequently induce PFAS; however, the incidence of PFAS due to grass or weed pollens such as ragweed or mugwort is relatively rare. Mugwort-mustard allergy syndrome (MMAS is an example of a PFAS in which individuals sensitized to mugwort may develop an allergy to mustard and experience severe reactions. We herein describe a case of MMAS due to broccoli consumption.

  8. A Case with Repeated Recurrent Acute Coronary Syndrome due to Pseudoephedrine Use: Kounis Syndrome

    Directory of Open Access Journals (Sweden)

    Metin Çeliker

    2014-01-01

    Full Text Available Allergic reaction-associated acute coronary syndrome picture is defined as Kounis syndrome. Although drug use is the most common cause of allergic reaction, foods and environmental factors may also play a role in the etiology. Herein, a case with acute coronary syndrome that developed two times at 8-month interval due to pseudoephedrine use for upper respiratory tract infection is presented.

  9. Anton's syndrome due to cerebrovascular disease: a case report

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    Maddula Mohana

    2009-09-01

    Full Text Available Abstract Introduction Anton's syndrome describes the condition in which patients deny their blindness despite objective evidence of visual loss, and moreover confabulate to support their stance. It is a rare extension of cortical blindness in which, in addition to the injury to the occipital cortex, other cortical centres are also affected, with patients typically behaving as if they were sighted. Case presentation We present a case report of an 83-year-old white woman with cortical blindness as a result of bilateral occipital lobe infarcts. Despite her obvious blindness, illustrated by her walking into objects, the patient expressed denial of visual loss and demonstrated confabulation in her accounts of her surroundings, consistent with a diagnosis of Anton's syndrome. Conclusions A suspicion of cortical blindness and Anton's syndrome should be considered in patients with atypical visual loss and evidence of occipital lobe injury. Cerebrovascular disease is the most common cause of Anton's syndrome, as in our patient. However, any condition that may result in cortical blindness can potentially lead to Anton's syndrome. Recovery of visual function will depend on the underlying aetiology, with cases due to occipital lobe infarction after cerebrovascular events being less likely to result in complete recovery. Management in these circumstances should accordingly focus on secondary prevention and rehabilitation.

  10. Circulação extracorpórea por membrana (ECMO em recém-nascido com insuficiência respiratória por síndrome de aspiração meconial: efeitos da administração de surfactante exógeno Extracorporeal membrane oxygenation (ECMO in a neonate with respiratory distress due to meconium aspiration syndrome: Effect of the administration of exogenous surfactant

    Directory of Open Access Journals (Sweden)

    João Gilberto Maksoud-Filho

    2001-06-01

    Full Text Available OBJETIVO: apresentar a evolução clínica de recém-nascido portador de insuficiência respiratória grave neonatal secundária à Sindrome de Aspiração Meconial tratado por Circulação Extracorpórea por Membrana, ou, conforme o termo consagrado em língua inglesa, ECMO (Extracorporeal Membrane Oxygenation, o efeito do uso de surfactante exógeno neste caso e os custos do procedimento. MÉTODOS: Descrição de um caso de Síndrome de Aspiração Meconial, tratado na UCINE (Unidade de Cuidados Intensivos Neonatais do Instituto da Criança Prof. Pedro de Alcantara, Hospital das Clínicas da Universidade de São Paulo. RESULTADOS: O suporte extracorpóreo teve a duração de 5 dias, sem complicações clínicas ou mecânicas. Surfactante exógeno de origem porcina foi administrado no 4o dia, após o quê observamos uma melhora significativa na complacência pulmonar. O recém-nascido pôde então ser rapidamente decanulado. Os custos do tratamento foram compatíveis com a realidade nacional em relação a um recém-nascido criticamente enfermo. CONCLUSÕES: a ECMO é indicada em casos de insuficiência respiratória neonatal que não respondam a outros tratamentos existentes. Deve ser disponível em Unidades de Tratamento Intensivo (UTIs neonatais de hospitais terciários e ser empregada conforme critérios bem estabelecidos. A utilização de surfactante exógeno aparentemente antecipou a retirada da ECMO e, portanto, deve ser considerada em casos semelhantes. Os custos do tratamento justificam a organização de Equipes de ECMO nessas UTIs.OBJECTIVES: to present the clinical outcome of a newborn with severe respiratory distress secondary to meconium aspiration syndrome and treated by extracorporeal membrane oxygenation (ECMO; and to present the effect of the use of exogenous surfactant in this case and the cost of the procedure. METHODS: Case report of a newborn with meconium aspiration syndrome and treated at the neonatal ICU of the

  11. A CLINICORADIOLOGICAL STUDY OF MIDDLE LOBE SYNDROME DUE TO TUBERCULOSIS

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    Saurabh Karmakar

    2016-09-01

    Full Text Available BACKGROUND Although pulmonary tuberculosis is a common disease in India, tuberculosis of right middle lobe is infrequent. Tuberculosis of the right middle lobe leading to chronic collapse is a cause of Right Middle Lobe syndrome. METHODS The patients attended Pulmonary Medicine Outdoor at Era’s Lucknow Medical College, Lucknow from April 2015 to March 2016. The purpose of this study is to describe the clinicoradiological features of patients of middle lobe syndrome due to tuberculosis. All patients presented with cough with or without expectoration, fever, chest pain, haemoptysis and constitutional symptoms like loss of appetite and weight. Chest X-ray PA view revealed ill-defined opacity abutting the right cardiac border. HRCT thorax was done in each case. The diagnosis of tuberculous aetiology was based on (1 History of chronic cough and fever, not responding to antibiotic therapy and constitutional symptoms, (2 A positive tuberculin test using 2 TU of PPD RT 23 and (3 Detection of acid fast bacilli by direct smear or Mycobacterium tuberculosis by polymerase chain reaction in bronchoalveolar lavage. RESULTS Out of 10 patients, 4 (40% were males and 6 (60% were females. The mean ages of the males were 55.8 years and females were 60.8 years and overall mean age was 59 years. Most of the patients were females and belonged to the middle age and old age group. ATT was started in all the patients. CONCLUSIONS Right middle lobe syndrome predominantly affects the older population and the female gender. Although tuberculosis is a common disease in India, Middle Lobe Syndrome is a very rare presentation of the disease. Due to non-specific symptoms and usually normal chest X-ray PA view in Right Middle Lobe Syndrome, we should keep a high index of suspicion to diagnose the condition.

  12. Fractures and Fanconi syndrome due to prolonged sodium valproate use.

    Science.gov (United States)

    Dhillon, N; Högler, W

    2011-06-01

    Sodium valproate (VPA) is commonly used to treat epilepsy in children. Renal dysfunction is a rare side eff ect but can present as tubulopathy such as Fanconi syndrome. We report on an 8-year-old disabled girl with myoclonic epilepsy who was referred for investigation of recurrent low impact fractures of the distal femur which were initially thought to be caused by her severe immobility. However, she was subsequently found to have hypophosphataemia secondary to Fanconi syndrome due to prolonged VPA use. After VPA withdrawal renal function and serum phosphate levels normalised and X-rays improved dramatically. The possibility of drug-induced osteoporosis and fractures should always be considered in disabled children, even in the presence of severe immobility.

  13. Visions for Literacy: Parents' Aspirations for Reading in Children with Down Syndrome

    Science.gov (United States)

    Ricci, Leila; Osipova, Anna

    2012-01-01

    Although children with Down syndrome (DS) can learn to read, few studies have explored parental perspectives on the reading development of this group of children. This article, written by Leila Ricci and Anna Osipova, from California State University, explores visions and expectations regarding reading held by parents of children with Down…

  14. Aspiration pneumonia. Pathophysiological aspects, prevention and management. A review.

    Science.gov (United States)

    Petroianni, A; Ceccarelli, D; Conti, V; Terzano, C

    2006-12-01

    Aspiration pneumonias occur more frequently than reported and, in many cases, the disease is not recognised. In hospitalised and institutionalised patients with predisposing diseases prompt diagnosis of this complication and correct preventive measures can drastically reduce the worsening of clinical conditions and the deaths due to aspiration pneumonia. Normal airway structure, effective defence mechanisms, and preventive measures are decisive in reducing aspiration episodes. An increased aspiration risk for food, fluids, medications, or secretions may lead to the development of pneumonia. Pneumonia is the most common respiratory complication in all stroke deaths and in mechanical ventilation patients. In addition, the increased incidence of aspiration pneumonia with aging may be a consequence of impairment of swallowing and the cough reflex. Dysphagia, compromised consciousness, invasive procedures, anaesthesia, insufficient oral care, sleep disorders, and vomiting are all risk factors. Aspiration pneumonia includes different characteristic syndromes based on the amount (massive, acute, chronic) and physical character of the aspirated material (acid, infected, lipoid), needing a different therapeutic approach. Chronic patients education and correct health care practices are the keys for preventing the events of aspiration. In patients at risk a clinical and instrumental assessment of dysphagia should be evaluated. Management includes the removal of etiologic factors (drugs, tubes, mobilisation, oral hygiene), supportive care, and in bacterial pneumonias a specific antibiotic therapy for community-acquired or nosocomial events.

  15. Anton's Syndrome due to Bilateral Ischemic Occipital Lobe Strokes.

    Science.gov (United States)

    Zukić, Sanela; Sinanović, Osman; Zonić, Lejla; Hodžić, Renata; Mujagić, Svjetlana; Smajlović, Edina

    2014-01-01

    We present a case of a patient with Anton's syndrome (i.e., visual anosognosia with confabulations), who developed bilateral occipital lobe infarct. Bilateral occipital brain damage results in blindness, and patients start to confabulate to fill in the missing sensory input. In addition, the patient occasionally becomes agitated and talks to himself, which indicates that, besides Anton's syndrome, he might have had Charles Bonnet syndrome, characterized by both visual loss and hallucinations. Anton syndrome, is not so frequent condition and is most commonly caused by ischemic stroke. In this particular case, the patient had successive bilateral occipital ischemia as a result of massive stenoses of head and neck arteries.

  16. Follicular aspiration versus coasting for ovarian hyper-stimulation syndrome prevention

    Science.gov (United States)

    Bushaqer, Nayla J.; Dayoub, Nawal M.; AlHattali, Khalsa K.; Ayyoub, Hisham A.; AlFaraj, Samaher S.; Hassan, Samar N.

    2018-01-01

    Objectives: To compare follicular reduction prior to human chorionic gonadotropin (HCG) trigger and coasting in terms of ovarian hyper-stimulation syndrome (OHSS) reduction, pregnancy, and cancellation rates in in vitro fertilization/ intracytoplasmic sperm injection (IVF/ICSI) cycles. Methods: This study was designed as a prospective study. The setting was the IVF unit at King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia. A total of 39 patients undergoing IVF/ICSI cycles, who were at risk of OHSS, 20 were put into a coasting group and 19 had follicular reduction instead. This occurred between October 2010 and January 2011. Our main outcome was OHSS reduction. Results: Six (30%) women developed OHSS in the coasting group and 2 (10.5%) women developed OHSS in the follicular group (p-value=0.235). The pregnancy rates in the cycles were similar for both groups: 4/20 (20%) in the coasting group and 3/19 (15.8%) in the follicular group (p-value=1.000). The cancellation rate of the cycles was similar for both groups, 6/20 (30%) in the coasting group and 1/19 (5.3%) in the follicular group (p-value=0.09). The median number of punctured follicles was significantly lower in the follicular group (16 follicles, interquartile range (IQR)=21-12) compared to the coasting group (29 follicles, IQR=37.8-19.8, p-value=0.001). The retrieved, fertilized, and cleaved oocytes, as well as the number of embryos transferred, were similar amongst both groups. Conclusion: There was no difference between follicular reduction prior to HCG and coasting, in terms of OHSS reduction, pregnancy, and cancellation rates in both the IVF and ICSI cycles. PMID:29543308

  17. Strategic Aspirations

    DEFF Research Database (Denmark)

    Christensen, Lars Thøger; Morsing, Mette; Thyssen, Ole

    2016-01-01

    are often encouraged by social norms, regulations, and institutions—for example, institutionalized standards for corporate social responsibility (CSR) reporting—they live through local articulations and enactments that allow organizations to discover who they are and who they might become. Strategic......Strategic aspirations are public announcements designed to inspire, motivate, and create expectations about the future. Vision statements or value declarations are examples of such talk, through which organizations announce their ideal selves and declare what they (intend to) do. While aspirations...... aspirations, in other words, have exploratory and inspirational potential—two features that are highly essential in complex areas such as sustainability and CSR. This entry takes a communicative focus on strategic aspirations, highlighting the value of aspirational talk, understood as ideals and intentions...

  18. Cyclical Cushing's syndrome due to an atypical thymic carcinoid

    NARCIS (Netherlands)

    Meinardi, [No Value; van den Berg, G; Wolffenbuttel, BHR; Kema, IP; Dullaart, RPF

    A 43-year-old man presented with fluctuating symptoms of weight gain, shortness of breath, pretibial oedema, associated with anxiety and memory disturbances. Laboratory investigation revealed an adrenocorticotropin (ACTH)-dependent cyclical Cushing's syndrome characterised by remarkable variations

  19. RRH: envenoming syndrome due to 200 stings from Africanized honeybees

    Directory of Open Access Journals (Sweden)

    Guilherme Almeida Rosa da Silva

    2013-02-01

    Full Text Available Envenoming syndrome from Africanized bee stings is a toxic syndrome caused by the inoculation of large amounts of venom from multiple bee stings, generally more than five hundred. The incidence of severe toxicity from Africanized bee stings is rare but deadly. This report reveals that because of the small volume of distribution, having fewer stings does not exempt a patient from experiencing an unfavorable outcome, particularly in children, elderly people or underweight people.

  20. Aspiration pneumonia: a review of modern trends.

    Science.gov (United States)

    DiBardino, David M; Wunderink, Richard G

    2015-02-01

    The purpose was to describe aspiration pneumonia in the context of other lung infections and aspiration syndromes and to distinguish between the main scenarios commonly implied when the terms aspiration or aspiration pneumonia are used. Finally, we aim to summarize current evidence surrounding the diagnosis, microbiology, treatment, risks, and prevention of aspiration pneumonia. Medline was searched from inception to November 2013. All descriptive or experimental studies that added to the understanding of aspiration pneumonia were reviewed. All studies that provided insight into the clinical aspiration syndromes, historical context, diagnosis, microbiology, risk factors, prevention, and treatment were summarized within the text. Despite the original teaching, aspiration pneumonia is difficult to distinguish from other pneumonia syndromes. The microbiology of pneumonia after a macroaspiration has changed over the last 60 years from an anaerobic infection to one of aerobic and nosocomial bacteria. Successful antibiotic therapy has been achieved with several antibiotics. Various risks for aspiration have been described leading to several proposed preventative measures. Aspiration pneumonia is a disease with a distinct pathophysiology. In the modern era, aspiration pneumonia is rarely solely an anaerobic infection. Antibiotic treatment is largely dependent on the clinical scenario. Several measures may help prevent aspiration pneumonia. Copyright © 2014 Elsevier Inc. All rights reserved.

  1. Hypotension due to Chemotherapy in a Patient with Small Cell Lung Cancer and Lambert-Eaton Myasthenic Syndrome Undergoing Hemodialysis: A First Case Report

    Directory of Open Access Journals (Sweden)

    Taiji Kuwata

    2012-01-01

    Full Text Available We present the first case of small cell lung cancer with Lambert-Eaton myasthenic syndrome during hemodialysis (HD. A 72-year-old male patient receiving HD experienced progressive muscle weakness. He was diagnosed with small cell lung cancer with Lambert-Eaton myasthenic syndrome due to an increased serum level of anti-voltage-gated calcium channel antibody and aspiration cytology on endobronchial ultrasonography for the swelling of a subcarinal lymph node. He received chemotherapy consisting of carboplatin (300 mg/m2 and etoposide (50 mg/m2, to which he had a partial response. However, the second therapy course could not be administered because of the unexpected development of severe hematological adverse events, which also prevented him from undergoing further HD. This case indicates that caution should be taken when using chemotherapy for such patients because of hypotension due to chemotherapy, with which it is impossible to undergo HD.

  2. Surfactant therapy and antibiotics in neonates with meconium aspiration syndrome: a systematic review and meta-analysis.

    Science.gov (United States)

    Natarajan, C K; Sankar, M J; Jain, K; Agarwal, R; Paul, V K

    2016-05-01

    Meconium aspiration syndrome (MAS), a common cause of respiratory failure in neonates, is associated with high mortality and morbidity. The objectives of this review were to evaluate the effects of administration of (a) surfactant-either as lung lavage (SLL) or bolus surfactant (BS) and (b) antibiotics on mortality and severe morbidities in neonates with MAS. We searched the following databases: MEDLINE via PubMed, Cochrane CENTRAL, WHOLIS and CABI using sensitive search strategies. We included eight studies on use of surfactant and three studies on use of antibiotics. Neither SLL nor BS reduced the risk of mortality in neonates with MAS (relative risk (RR) 0.38, 95% confidence interval (CI) 0.09 to 1.57; and RR 0.80, 95% CI 0.39 to 1.66, respectively). Both SLL and BS reduced the duration of hospital stay (mean difference -2.0, 95% CI -3.66 to -0.34; and RR -4.68, 95% CI -7.11 to -2.24 days, respectively) and duration of mechanical ventilation (mean difference -1.31, 95% CI -1.91 to -0.72; and mean difference 5.4, 95% CI -9.76 to -1.03 days). Neonates who received BS needed extracorporeal membrane oxygenation (ECMO) less often than the controls (RR 0.64, 95% CI 0.46 to 0.91). Use of antibiotics for MAS did not result in significant reduction in the risk of mortality, sepsis or duration of hospital stay. Surfactant administration either as SLL or BS for MAS was found to reduce the duration of mechanical ventilation and hospital stay; BS also reduced the need for ECMO. Administration of antibiotics did not show any significant clinical benefits in neonates with MAS and no evidence of sepsis. Given the limited number of studies and small number of neonates enrolled, there is an urgent need to generate more evidence on the efficacy and cost-effectiveness of these two treatment modalities before recommending them in routine clinical practice.

  3. Burning mouth syndrome due to herpes simplex virus type 1.

    Science.gov (United States)

    Nagel, Maria A; Choe, Alexander; Traktinskiy, Igor; Gilden, Don

    2015-04-01

    Burning mouth syndrome is characterised by chronic orofacial burning pain. No dental or medical cause has been found. We present a case of burning mouth syndrome of 6 months duration in a healthy 65-year-old woman, which was associated with high copy numbers of herpes simplex virus type 1 (HSV-1) DNA in the saliva. Her pain resolved completely after antiviral treatment with a corresponding absence of salivary HSV-1 DNA 4 weeks and 6 months later. 2015 BMJ Publishing Group Ltd.

  4. Hypokalemic paralysis due to primary hyperaldosteronism simulating gitelman′s syndrome

    Directory of Open Access Journals (Sweden)

    Kasifoglu Timucin

    2009-01-01

    Full Text Available Some diseases, such as Gitelman′s syndrome, Bartter′s syndrome, and primary hyperaldosteronism (Conn′s syndrome, may bear some similar clinical and laboratory findings. Their treatment modalities being different from one another, the need for a scrupulous diagnostic evaluation arises as far as clinical practice is concerned. In this report, we present a patient with Conn′s syndrome who was initially considered to have Gitelman′s syndrome due to displaying a few overlapping features of both diseases. We also give an account of the hardships encountered during the diagnostic evaluation.

  5. Rapid test for lung maturity, based on spectroscopy of gastric aspirate, predicted respiratory distress syndrome with high sensitivity

    DEFF Research Database (Denmark)

    Verder, Henrik; Heiring, Christian; Clark, Howard

    2017-01-01

    for targeting surfactant supplementation. METHODS: Concentrations of the most surface-active lung phospholipid dipalmitoylphosphatidylcholine and sphingomyelin in gastric aspirates from premature infants were measured by mass spectrometry and expressed as the lecithin/sphingomyelin ratio (L/S). The same...

  6. A rare fatality due to calcified stylohyoid ligament (Eagle syndrome).

    Science.gov (United States)

    Gupta, Avneesh; Aggrawal, Anil; Setia, Puneet

    2017-06-01

    The elongation or calcification of the stylohyoid ligament that leads to pressure symptoms, or entrapment of nearby glossopharyngeal nerve or carotid artery, is known as Eagle syndrome. A PubMed search leads to finding of rare fatality among the 49 reported cases. In the present case, the deceased was a 40-year-old male who choked on his food. We hypothesise that the impaction of food in the upper respiratory tract, as well as the inability to intubate the person, were both the result of the calcified stylohyoid ligament.

  7. Pseudo-meigs syndrome due to subserosal leiomyoma diagnosed by MR imaging: case report

    International Nuclear Information System (INIS)

    Park, Hyun Jin; Jung, Seung Eun; Lee, Jae Mun; Lee, Kyo Young; Han, Ku Taek; Hahn, Seong Tai

    2002-01-01

    We report a case of pseudo-meigs syndrome due to a large subserosal leiomyoma in a patient with a high serum carcinogenic antigen 125 level. Initial clinical examination suggested disseminated malignant disease though the typical signal characteristics of leiomyoma, seen at MR imaging, led to the diagnosis of pseudo-meigs syndrome

  8. Pseudo-meigs syndrome due to subserosal leiomyoma diagnosed by MR imaging: case report

    Energy Technology Data Exchange (ETDEWEB)

    Park, Hyun Jin; Jung, Seung Eun; Lee, Jae Mun; Lee, Kyo Young; Han, Ku Taek; Hahn, Seong Tai [The Catholic University of Korea, Seoul (Korea, Republic of)

    2002-12-01

    We reports a case of pseudo-meigs syndrome due to a large subserosal leiomyoma in a patient with a high serum carcinogenic antigen 125 level. Initial clinical examination suggested disseminated malignant disease though the typical signal characteristics of leiomyoma, seen at MR imaging, led to the diagnosis of pseudo-meigs syndrome.

  9. Pulmonary hypertension due to acute respiratory distress syndrome

    Directory of Open Access Journals (Sweden)

    S.A. Ñamendys-Silva

    2014-10-01

    Full Text Available Our aims were to describe the prevalence of pulmonary hypertension in patients with acute respiratory distress syndrome (ARDS, to characterize their hemodynamic cardiopulmonary profiles, and to correlate these parameters with outcome. All consecutive patients over 16 years of age who were in the intensive care unit with a diagnosis of ARDS and an in situ pulmonary artery catheter for hemodynamic monitoring were studied. Pulmonary hypertension was diagnosed when the mean pulmonary artery pressure was >25 mmHg at rest with a pulmonary artery occlusion pressure or left atrial pressure <15 mmHg. During the study period, 30 of 402 critically ill patients (7.46% who were admitted to the ICU fulfilled the criteria for ARDS. Of the 30 patients with ARDS, 14 met the criteria for pulmonary hypertension, a prevalence of 46.6% (95% CI; 28-66%. The most common cause of ARDS was pneumonia (56.3%. The overall mortality was 36.6% and was similar in patients with and without pulmonary hypertension. Differences in patients' hemodynamic profiles were influenced by the presence of pulmonary hypertension. The levels of positive end-expiratory pressure and peak pressure were higher in patients with pulmonary hypertension, and the PaCO2 was higher in those who died. The level of airway pressure seemed to influence the onset of pulmonary hypertension. Survival was determined by the severity of organ failure at admission to the intensive care unit.

  10. Mandibular Osteonecrosis due to the Pulpal-Periodontal Syndrome: a Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Sven Seiwerth

    2017-01-01

    Full Text Available Objective: Ishemic bone disease has multifactorial etiologies. Cronic dental infections should be eliminated to prevent osteonecrosis of the jaw. Case report: We report an unusual case of osteonecrosis due to the pulpal-peridontal syndrome and subsequent pulp necrosis. A case of 38 year old woman who presented with exposed bone, 8 mm in diameter, in the lingual area of the right lower third molar. The patient was otherwise healthy and was not taking any medications. A detailed medical history showed no previous diseases. Patient denied any type of local trauma. A complete blood count showed no abnormalities. The panoramic radiograph revealed a deep periodontal pocket between teeth 47 and 48. The CBCT revealed a deep periodontal pocket between molars and bone sequestrum of the lingual plate. Topical treatment consisted of adhesive periodontal dressing based on the cellulose and betamethasone oitnment together with orabase, without improvement. Therefore, peroral amoxycillin was prescribed for a week. Since there was no improvement, the third molar was removed as well as necrotic bone; the alveolar bone was remodelled and utures were placed. After suturing, the whole area was covered using intraoral resorbable bandage. Microbial swab of the wound aspirate did not reveal polymorphonuclears or the presence of icroorganisms. Microbial swab of the biopsy specimen of the necrotic bone particle and sequestrum showed a large amount of gram-positive coccae, however, polymorphonuclears were not found. Histopathological analysis revealed acute chronic inflammation. One week after the surgery, the area healed completely. Conclusion: This case highlights the fact that in some patients bone exposure might develop due to the pulpal-peridontal syndrome i.e. pulp necrosis.

  11. Painful tic convulsif syndrome due to vertebrobasilar dolichoectasia

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    Puneet Mittal

    2011-01-01

    Full Text Available Combined clinical presentation of hemifacial spasm and ipsilateral trigeminal neuralgia is also known as painful tic convulsif (PTC. It is a rare condition and the most common cause is vascular compression. Vertebrobasilar dolichoectasia (VBD is characterized by dilated and tortuous vertebral and basilar arteries. VBD is an uncommon and rarely reported cause of PTC. Magnetic resonance imaging (MRI, due to its inherent excellent contrast resolution, is an excellent modality for demonstrating the nerve compression by dilated and tortuous vessels seen in this condition. For this purpose, 3D MRI sequences are especially useful like constructive interference in steady state (CISS and MR angiography. Both of these have been reported to be helpful in the diagnosis of this condition. We report a case of PTC in which we were able to document facial and trigeminal nerve compression by VBD on MRI, using CISS and time-of-flight MR angiography.

  12. Superior Vena Cava Syndrome due to Thrombosis: A Rare Paraneoplastic Presentation of Bronchogenic Carcinoma

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    Avradip Santra

    2016-07-01

    Full Text Available Superior vena cava (SVC syndrome is not an uncommon occurrence in patients with malignancy and it is often described as a medical emergency. In majority of the cases, SVC syndrome occurs due to mechanical obstruction of the SVC by extraluminal compression with primary intrathoracic malignancies. However, intraluminal obstruction due to thrombosis can also produce symptoms and signs of SVC syndrome. Clot-related SVC obstruction is mostly associated with indwelling central venous catheter and pacemaker leads, although such thrombosis can occur spontaneously in a background of a hypercoagulable state, e.g., malignancy. Here, an unusual case of sudden onset SVC syndrome has been reported, which on initial radiologic evaluation was found to have a lung nodule without any significant mediastinal mass or adenopathy compressing SVC. Subsequent investigation with Doppler ultrasonography of the neck showed thrombosis in the right internal jugular, right subclavian and right brachiocephalic vein, which was responsible for SVC syndrome. Histopathological evaluation of lung nodule confirmed presence of an adenocarcinoma. Therefore, venous thromboembolism as a paraneoplastic syndrome should be kept in mind while evaluating a case of SVC obstruction in a cancer patient. Management of the underlying disease is of prime importance in such cases and anticoagulation is the mainstay of therapy. Ability to identify paraneoplastic syndrome may have a significant effect on clinical outcome, ranging from early diagnosis to improved quality of life of the patient.

  13. SHOCK SYNDROME IN A PATIENT WITH HYPOPITUITARISM DUE TO BRAIN TUMOR

    Directory of Open Access Journals (Sweden)

    Andreja Sinkovič

    2004-04-01

    Full Text Available Background. Shock syndrome is an acute tissue hypoperfusion. Early diagnosis and adequate symptomatic and causal treatment are mandatory. In spite of different etiologies (dehidration, bleeding, heart failure, sepsis, clinical signs and symptomes are similar (hypotension, tachicardia, tachipnoe, pallor, cold and wet skin, oliguria and metabolic acidosis. Rarely, the shock syndrome is the consequence of the adrenal insufficiency due to hypopituitarism caused by brain tumor where early treatment with hydrocortisone is urgent.Methods. This article presents a patient with a shock syndrome and multiorgan failure. Endocrinological testing and brain CT demonstrated an endocrinologically inactive tumor of hypophysis. The tumor was growing into adjacent hypophyseal tissue and causing hypopituitarism with secondary hypothyroidism and adrenal insufficiency and deficit of both gonadotropins and growth hormone.Conclusions. Primary or secondary adrenal insufficiency are among rare causes of shock syndrome. Whenever it is suspected, estimation of serum levels of cortisol and ACTH is necessary and immediate treatment with hydrocortisone should be instituted.

  14. Sjögren syndrome presenting with hypopotassemic periodic paralysis due to renal tubular acidosis

    Science.gov (United States)

    Ataoglu, Esra Hayriye; Demir, Betul; Tuna, Mazhar; Çavus, Bilger; Cetin, Faik; Temiz, Levent Umit; Ozturk, Savas; Yenigun, Mustafa

    2012-01-01

    Summary Background: Sjögren syndrome (SS) is an autoimmune-lymphoproliferative disorder characterized by mononuclear cell infiltration of exocrine glands. Clinically, Sjögren syndrome (SS) has a wide spectrum, varying from autoimmune exocrinopathy to systemic involvement. There have been few cases reporting that primary SS developed with distal renal tubular acidosis clinically. Case Report: Here, we present a case with primary Sjögren syndrome accompanied by hypopotassemic paralysis due to renal tubular acidosis. Severe hypopotassemia, hyperchloremic metabolic acidosis, alkaline urine and disorder in urinary acidification test were observed in the biochemical examination of the 16-year-old female patient, who had applied to our clinic for extreme loss of muscle force. After the examinations it was determined that the patient had developed Type 1 RTA (distal RTA) due to primary Sjögren syndrome. Potassium and alkaline replacement was made and an immediate total recovery was achieved. Conclusions: Hypopotassemic paralysis due to primary Sjögren syndrome is a rare but severe disorder that could lead to death if not detected early and cured appropriately. Thus, effective treatment should be immediately initiated in cases where severe hypopotassemia is accompanied by metabolic acidosis, and the cases should also be examined for extraglandular involvement of SS. PMID:23569525

  15. Cushing Syndrome in a 6-Month-Old Infant due to Adrenocortical Tumor

    Directory of Open Access Journals (Sweden)

    Volmar KeithE

    2009-09-01

    Full Text Available Cushing syndrome is rare in infancy and usually due to an adrenocortical tumor (ACT. We report an infant with Cushing syndrome due to adrenocortical carcinoma. The patient presented at six months of age with a three-month history of growth failure, rapid weight gain, acne, and irritability. Physical examination showed obesity, hypertension, and Cushingoid features. Biochemical evaluation showed very high serum cortisol, mildly elevated testosterone, and suppressed ACTH. Abdominal MRI revealed a heterogeneous right adrenal mass extending into the inferior vena cava. Evaluation for metastases was negative. The tumor was removed surgically en bloc. Pathologic examination demonstrated low mitotic rate, but capsular and vascular invasion. She received no adjuvant therapy. Her linear growth has improved and Cushingoid features resolved. Hormonal markers and quarterly PET scans have been negative for recurrence 24 months postoperatively. In conclusion, adrenocortical neoplasms in children are rare, but should be considered in the differential diagnosis of Cushing syndrome.

  16. A case of orbital apex syndrome due to Pseudomonas aeruginosa infection

    Directory of Open Access Journals (Sweden)

    Takeshi Kusunoki

    2011-11-01

    Full Text Available Orbital apex syndrome is commonly been thought to have a poor prognosis. Many cases of this syndrome have been reported to be caused by paranasal sinus mycosis. We encountered a very rare case (60-year-old woman of sinusitis with orbital apex syndrome due to Pseudomonas aeruginosa infection. She had received insulin and dialysis for diabtes and diabetic nephropathy, moreover anticoagulants after heart by-pass surgery. She underwent endoscopic sinus operation and was treated with antibiotics, but her loss of left vision did not improve. Recently, sinusitis cases due to Pseudomonas aeruginosa were reported to be a increasing. Therefore, we should consider the possibility of Pseudomonas aeruginosa as well as mycosis as infections of the sinus, especially inpatients who are immunocompromised body.

  17. Radicular dysfunction due to spinal deformities in Marfan syndrome at older age: three case reports.

    NARCIS (Netherlands)

    Voermans, N.C.; Hosman, A.J.F.; Alfen, N. van; Bartels, R.H.M.A.; Kleuver, M. de; Akker, J.W. op den; Engelen, B.G.M. van

    2010-01-01

    Marfan syndrome is a inherited connective tissue disorder due to mutations in fibrillin-1. It presents with cardiovascular, ocular, skeletal, pulmonary and dural signs and symptoms. Some of the symptoms of later onset are those associated with scoliosis and dural ectasia. This is the enlargement of

  18. Anti-Ma-associated encephalitis due to dysgerminoma in a woman with Swyer syndrome.

    Science.gov (United States)

    Al-Thubaiti, Ibtisam; Al-Hayek, Kefah; Binfalah, Mohammed

    2013-04-09

    Paraneoplastic limbic encephalitis (PLE)/diencephalitis associated with anti-Ma2 antibodies was linked to testicular cancer and non-small-cell lung cancer (non-SCLC).(1,2) We report a case of anti-Ma-associated PLE/diencephalitis due to dysgerminoma in a woman with gonadal dysgenesis, or Swyer syndrome.

  19. ''Dropped-head'' syndrome due to isolated myositis of neck extensor muscles: MRI findings

    International Nuclear Information System (INIS)

    Gaeta, Michele; Mazziotti, Silvio; Blandino, Alfredo; Toscano, Antonio; Rodolico, Carmelo; Mazzeo, Anna

    2006-01-01

    MRI findings of a patient with dropped-head syndrome due to focal myositis of the neck extensor muscles are presented. MRI showed oedematous changes and marked enhancement of the neck extensor muscles. After therapy MRI demonstrated disappearance of the abnormal findings. (orig.)

  20. Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4.

    Science.gov (United States)

    Battaglia, A; Brothman, A R; Carey, J C

    2002-09-15

    An informative patient with a MCA/MR syndrome consisting of developmental delay, prenatal onset growth delay, microcephaly, distinctive face, iris coloboma, and a congenital heart defect was found, on chromosome analysis, to have the following complement: 46,XY,rec(4) dup(4p) inv(4)(p14q35.1) mat. He has a partial 4p trisomy/distal 4q deletion due to an unbalanced pericentric inversion inherited from his mother. Dup (4p) trisomy was originally described by Wilson et al. [1970: Am J Hum Genet 22:679-690] in a similar case with the same chromosome 4 inversion. To date, at least 85 cases of dup (4p) syndrome have been published, mostly due to unbalanced translocations. Recent articles suggest that the phenotype is hard to recognize clinically due to the lack of specificity of findings. In contrast, 4p trisomy due to an unbalanced pericentric inversion of chromosome 4(p14q35), i.e., the recombinant 4 syndrome observed in our patient, appears to be a discrete entity with relatively consistent features. In total there are four other kindreds described in the literature with this inversion, and the phenotype seems recognizable. Thus, we suggest that recombinant 4 syndrome is a discrete entity among 4p trisomy patients. Copyright 2002 Wiley-Liss, Inc.

  1. Maladaptive Behavior Differences in Prader-Willi Syndrome Due to Paternal Deletion versus Maternal Uniparental Disomy.

    Science.gov (United States)

    Dykens, Elisabeth M.; King, Bryan H.; Cassidy, Suzanne B.

    1999-01-01

    This study compared maladaptive behavior in 23 people with Prader-Willi syndrome due to paternal deletion and in 23 age- and gender-matched subjects with maternal uniparental disomy. Controlling for IQs, the deletion cases showed significantly higher maladaptive ratings, more symptom-related distress, and more behavior problems. Findings suggest a…

  2. Cushing's syndrome in infancy due to ectopic ACTH secretion by a sacro-coccygeal teratoma.

    Science.gov (United States)

    Rydzewska, Marta; Krawczuk-Rybak, Maryna; Zajkowska, Adrianna; Jurczuk, Natalia; Polnik, Dariusz; Szalecki, Mieczysław; Moszczyńska, Elżbieta; Savage, Martin O; Bossowski, Artur

    2017-04-01

    Adenocorticotropic hormone (ACTH)-dependent Cushing's syndrome in infancy is extremely rare. We describe the case of a sacro-coccygeal ectopic ACTH-secreting immature teratoma in an infant who also presented the triad of defects characteristic of Currarino syndrome. A girl was born with a large immature teratoma in the sacro-coccygeal region associated with anal atresia. At the age of 7 days, the concentration of α-fetoprotein (AFP) was above the age-specific normal range. Two non-radical surgical excisions of the tumour were performed. At the age of 7 months, she developed polyphagia, acne, hirsutism, hypertension and hypokalemia with elevated ACTH and absence of serum cortisol circadian rhythm. Immunostaining of tumour tissue showed ACTH-immunoreactive cells. Due to unsuccessful therapy with ketoconazole and resistance to antihypertensive medications [blood pressure (BP) 210/160 mmHg], metyrapone was administered, which controlled her ACTH and cortisol levels in the normal range. Following further removal of tumour bulk after three operations during the first year of life, there was a decrease of BP to normal values. A rare case of ectopic ACTH syndrome causing Cushing's syndrome in infancy in the context of Currarino syndrome is reported. Radical surgery has resulted in excision of the tumour and current control of Cushing's syndrome.

  3. Intussusception due to Peutz-Jeghers syndrome - a case report and review of the literature

    International Nuclear Information System (INIS)

    Grasso Filho, Luiz Eduardo; Albertotti, Flavio; Carvalho, Claudio Sobral de; Nersessian, Ana Carolina; Docema, Marcos F. Lima; Ogasawara, Aparecida M.; Peng Yong Sheng; Costacurta, Marco Antonio; Albertotti, Cesar Jose; Cerri, Giovanni Guido

    2000-01-01

    The authors report a case of a 28-year-old woman with ileocecocolic intussusception due to Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by hamartomatous polyposis of the gastrointestinal tract and mucocutaneous pigmentation. This condition frequently presents complications such as intestinal obstruction due to invagination or hemorrhage. In this patient, the diagnosis of intussusception was made preoperatively. The excised material revealed three large polyps which were considered to be the cause of the intussusception. (author)

  4. Guillain-Barré Syndrome due to CMV Reactivation after Cardiac Transplantation

    Directory of Open Access Journals (Sweden)

    Christina Maria Steger

    2012-01-01

    Full Text Available A 40-year-old male patient suffered from end-stage heart failure due to ischemic cardiomyopathy and received orthotopiccardiac transplantation in June 2005. The instantaneous postoperative course was uneventful, but, seven months later, he suffered from paralysis in the lower extremities finally resulting in quadriplegia and was admitted to hospital. After laboratory testings the diagnosis of a Guillain-Barré syndrome due to cytomegalovirus reactivation was confirmed.

  5. Pseudo-acute myocardial infarction due to transient apical ventricular dysfunction syndrome (Takotsubo syndrome).

    Science.gov (United States)

    Maciel, Bruno Araújo; Cidrão, Alan Alves de Lima; Sousa, Italo Bruno Dos Santos; Ferreira, José Adailson da Silva; Messias Neto, Valdevino Pedro

    2013-03-01

    Takotsubo syndrome is characterized by predominantly medial-apical transient left ventricular dysfunction, which is typically triggered by physical or emotional stress. The present article reports the case of a 61-year-old female patient presenting with dizziness, excessive sweating, and sudden state of ill feeling following an episode involving intense emotional stress. The physical examination and electrocardiogram were normal upon admission, but the troponin I and creatine kinase-MB concentrations were increased. Acute myocardial infarction without ST segment elevation was suspected, and coronary angiography was immediately performed, which showed severe diffuse left ventricular hypokinesia, medial-apical systolic ballooning, and a lack of significant coronary injury. The patient was referred to the intensive care unit and was successfully treated with supportive therapy. As this case shows, Takotsubo syndrome might simulate the clinical manifestations of acute myocardial infarction, and coronary angiography is necessary to distinguish between both myocardial infarction and myocardial infarction in the acute stage. The present patient progressed with spontaneous resolution of the ventricular dysfunction without any sequelae.

  6. [Clinical effect of high-frequency oscillatory ventilation combined with pulmonary surfactant in treatment of neonatal severe meconium aspiration syndrome complicated by pulmonary hemorrhage].

    Science.gov (United States)

    Huang, Jing; Lin, Xin-Zhu; Zheng, Zhi

    2016-11-01

    To study the clinical effect and safety of high-frequency oscillatory ventilation (HFOV) combined with pulmonary surfactant (PS) in the treatment of neonatal severe meconium aspiration syndrome (MAS) complicated by neonatal pulmonary hemorrhage (NPH). A total of 48 children with severe MAS complicated by NPH were enrolled, and a retrospective analysis was performed for the clinical effects of HFOV+PS (trial group, 25 children) and HFOV alone (control group, 23 children). The blood gas parameters, oxygenation index (OI), PaO 2 /FiO 2 (P/F) value, duration of pulmonary hemorrhage, ventilation time, length of hospital stay, incidence of complications, and outcome were compared between the two groups. At 6, 12, 24, and 48 hours after treatment, the trial group had significantly better PaO 2 , OI, and P/F value than the control group (Phemorrhage (P0.05). HFOV combined with PS can better improve oxygenation function and shorten the duration of NPH and ventilation time. Meanwhile, it does not increase the incidence of adverse events. Therefore, it is a safe and effective therapy.

  7. Iliac Vein Compression Syndrome due to Bladder Distention Caused by Urethral Calculi

    Directory of Open Access Journals (Sweden)

    Akiko Ikegami

    2015-01-01

    Full Text Available We report a rare case of iliac vein compression syndrome caused by urethral calculus. A 71-year-old man had a history of urethral stenosis. He complained of bilateral leg edema and dysuria for 1 week. Physical examination revealed bilateral distention of the superficial epigastric veins, so obstruction of both common iliac veins or the inferior vena cava was suspected. Plain abdominal computed tomography showed a calculus in the pendulous urethra, distention of the bladder (as well as the right renal pelvis and ureter, and compression of the bilateral common iliac veins by the distended bladder. Iliac vein compression syndrome was diagnosed. Bilateral iliac vein compression due to bladder distention (secondary to neurogenic bladder, benign prostatic hyperplasia, or urethral calculus as in this case is an infrequent cause of acute bilateral leg edema. Detecting distention of the superficial epigastric veins provides a clue for diagnosis of this syndrome.

  8. Vertical diplopia and oscillopsia due to midbrain keyhole aqueduct syndrome associated with severe cough

    Directory of Open Access Journals (Sweden)

    Angela Jinsook Oh

    2018-06-01

    Full Text Available Purpose: Midline structural defects in the neural axis can give rise to neuro-ophthalmic symptoms. We report a rare case of keyhole aqueduct syndrome presenting after two years of severe cough due to gastroesophageal reflux disease. Observations: A 58-year-old woman with a 2-year history of daily, severe cough presented to the neuro-ophthalmology clinic with progressive diplopia and oscillopsia. Examination revealed a 1–2 Hz down-beating nystagmus in primary gaze that worsened with left, right, and down gazes. Gaze evoked nystagmus and mild paresis were also seen with up gaze. There was an incomitant left hypertropia due to skew deviation that worsened with right and up gazes and improved with down gaze. She also had a right-sided ptosis and a 3 mm anisocoria not due to cranial nerve 3 paresis or Horner's syndrome. Brain magnetic resonance imaging showed a 1.5 mm × 11.7 mm × 6 mm midline cleft in the ventral midbrain communicating with the cerebral aqueduct, consistent with keyhole aqueduct syndrome. Her nystagmus and diplopia improved with oral acetazolamide treatment, at high doses of 2500–3000 mg per day. Conclusions and importance: We report the first case of midbrain keyhole aqueduct syndrome with ocular motor and other neuro-ophthalmic manifestations associated with severe cough. Although her cough was effectively treated and intracranial pressure measurement was normal, her ophthalmic symptoms continued to progress, which is common in previous cases reported. Treatment with acetazolamide led to significant improvement, supporting the use of acetazolamide in this rare condition. Keywords: Keyhole aqueduct syndrome, Midbrain cleft, Mesencephalic cleft, Syrinx, Syringobulbia, Down-beating nystagmus, Cerebrospinal fluid

  9. Fatal respiratory distress syndrome due to coronavirus infection in a child with severe combined immunodeficiency

    OpenAIRE

    Szczawinska‐Poplonyk, Aleksandra; Jonczyk‐Potoczna, Katarzyna; Breborowicz, Anna; Bartkowska‐Sniatkowska, Alicja; Figlerowicz, Magdalena

    2012-01-01

    Please cite this paper as: Szczawinska‐Poplonyk et al. (2012) Fatal respiratory distress syndrome due to coronavirus infection in a child with severe combined immunodeficiency. Influenza and Other Respiratory Viruses DOI: 10.1111/irv.12059. Coronaviruses have been demonstrated to contribute substantially to respiratory tract infections among the child population. Though infected children commonly present mild upper airway symptoms, in high‐risk patients with underlying conditions, particularl...

  10. The impact of infection on mortality in octogenarians who were admitted due to acute coronary syndrome.

    Science.gov (United States)

    Keskin, Kudret; Çetinkal, Gökhan; Sığırcı, Serhat; Yıldız, Süleyman Sezai; Çetin, Şükrü; Gürdal, Ahmet; Kocaş, Betül Balaban; Kılıçkesmez, Kadriye Orta

    The prevalence of coronary artery disease is on the rise as the life expectancy of the population increases. However, treatment of acute coronary syndrome in the elderly patients has its own problems that have not been thoroughly addressed in the clinical trials. Since these patients are generally fragile and have multiple co-morbidities, the course of acute coronary syndrome can frequently be complicated. Infection, which co-exists either at the initial presentation or is acquired during the hospital stay, is a condition about which there is little published data. Therefore, in our study, we wanted to assess the impact of infection on mortality in octogenarians who have acute coronary syndrome METHODS: We retrospectively analyzed the data of 174 octogenarians who had been admitted to the coronary care unit with acute coronary syndrome. All-cause mortality was defined as the primary endpoint of the study. Overall 53 octogenarian patients (30.5%) had an infection along with acute coronary syndrome. The mean duration of follow-up was 10 months (1-25 months). Both in-hospital and long-term mortality were higher in these patients (18.9% vs 6.6%, p = 0.01; 52.8% vs 27.5%, p < 0.01; respectively). Kaplan-Meier analysis also showed lower cumulative survival. (p [log-rank] = 0.002). In multivariate Cox regression analysis; undergoing coronary angiography, infection (HR 1.96, 95% CI 1.15-3.34, p = 0.01), left ventricular ejection fraction and maximum C reactive protein levels were found as independent predictors of long-term survival. Infection in octogenarians who were admitted due to acute coronary syndrome was frequent and increased their mortality substantially. Copyright © 2018 Elsevier B.V. All rights reserved.

  11. Vertical diplopia and oscillopsia due to midbrain keyhole aqueduct syndrome associated with severe cough.

    Science.gov (United States)

    Oh, Angela Jinsook; Lanzman, Bryan Alexander; Liao, Yaping Joyce

    2018-06-01

    Midline structural defects in the neural axis can give rise to neuro-ophthalmic symptoms. We report a rare case of keyhole aqueduct syndrome presenting after two years of severe cough due to gastroesophageal reflux disease. A 58-year-old woman with a 2-year history of daily, severe cough presented to the neuro-ophthalmology clinic with progressive diplopia and oscillopsia. Examination revealed a 1-2 Hz down-beating nystagmus in primary gaze that worsened with left, right, and down gazes. Gaze evoked nystagmus and mild paresis were also seen with up gaze. There was an incomitant left hypertropia due to skew deviation that worsened with right and up gazes and improved with down gaze. She also had a right-sided ptosis and a 3 mm anisocoria not due to cranial nerve 3 paresis or Horner's syndrome. Brain magnetic resonance imaging showed a 1.5 mm × 11.7 mm × 6 mm midline cleft in the ventral midbrain communicating with the cerebral aqueduct, consistent with keyhole aqueduct syndrome. Her nystagmus and diplopia improved with oral acetazolamide treatment, at high doses of 2500-3000 mg per day. We report the first case of midbrain keyhole aqueduct syndrome with ocular motor and other neuro-ophthalmic manifestations associated with severe cough. Although her cough was effectively treated and intracranial pressure measurement was normal, her ophthalmic symptoms continued to progress, which is common in previous cases reported. Treatment with acetazolamide led to significant improvement, supporting the use of acetazolamide in this rare condition.

  12. Role of anti-thrombotic therapy for recurrent pregnancy loss due to anti-phospholipid syndrome

    International Nuclear Information System (INIS)

    Fawad, S.

    2010-01-01

    Background: Recurrent pregnancy loss is a major health problem effecting 1 to 2% of women of reproductive age. Its causes range from chromosomal abnormalities to endocrinological factors and thrombophilia related factors. Treating thrombophilia s especially anti phospholipid syndrome with low dose aspirin and low molecular weight heparin improves foetal outcome. This study will add local data to already existing knowledge. Method: Sixty selected patients from gynaecology OPD of Aero Hospital with clinical and/or serological findings of anti phospholipid syndrome from February 2009 to January 2011 were given aspirin 75 mg once daily and enoxaparine 40 mg subcutaneously once daily from 6 - 8 weeks to 35 and 37 weeks respectively. Results : Ninety-three percent of patients achieved live birth. Out of these 75% patients delivered at term and 18% had preterm delivered. Four (7%) had early pregnancy loss and only one had early neonatal death due to extreme prematurity. None of patients experienced any major hemorrhagic complications . Conclusion: Use of low dose aspirin and low molecular weight heparin is safe in pregnancy and improve foetal outcome in patients with recurrent pregnancy loss due to anti phospholipids syndrome. (author)

  13. Cushing syndrome in a young woman due to primary pigmented nodular adrenal disease.

    Science.gov (United States)

    Hackman, Kathryn L; Davis, Anna L; Curnow, Paul A; Serpell, Jonathan W; McLean, Catriona A; Topliss, Duncan J

    2010-01-01

    To report a case of Cushing syndrome due to apparently sporadic primary pigmented nodular adrenal disease in a young woman. We describe the clinical, biochemical, radiologic, and histologic findings of Cushing syndrome due to the rare condition of primary pigmented nodular adrenal disease. A 30-year-old woman presented with a 2-year history of worsening itch without rash over her shoulders and arms and weight gain, particularly around the abdomen and face. Careful questioning did not elicit any history of exogenous glucocorticoid use (systemic or topical), including hydrocortisone. On examination, the patient had a slightly rounded and plethoric face, a small buffalo hump, central adiposity, and thin skin with a few small striae on her inner thighs. No features of the Carney complex were observed. Investigations showed hypercortisolism with suppressed corticotropin and normal adrenal imaging despite documentation of enlarged adrenal glands at removal. High-dose dexamethasone administration was followed by a decrease in urinary free cortisol excretion rather than a paradoxical rise as previously reported in primary pigmented nodular adrenal disease. No mutations were detected in the PRKAR1A gene. Primary pigmented nodular adrenal disease should be suspected in patients with corticotropin-independent Cushing syndrome who have normal adrenal imaging. The role of genetic testing in apparently sporadic cases is not established, but cumulative experience may be helpful in defining the frequency of PRKAR1A mutations.

  14. Multiple osteoblastomas in a child with Cushing syndrome due to bilateral adrenal micronodular hyperplasias

    Directory of Open Access Journals (Sweden)

    Hyeoh Won Yu

    2016-03-01

    Full Text Available Adrenocorticotropin-independent adrenal hyperplasias are rare diseases, which are classified into macronodular (>1 cm and micronodular (≤1 cm hyperplasia. Micronodular adrenal hyperplasia is subdivided into primary pigmented adrenocortical disease and a limited or nonpigmented form 'micronodular adrenocortical disease (MAD', although considerable morphological and genetic overlap is observed between the 2 groups. We present an unusual case of a 44-month-old girl who was diagnosed with Cushing syndrome due to MAD. She had presented with spotty pigmentation on her oral mucosa, lips and conjunctivae and was diagnosed with multiple bone tumors in her femur, pelvis and skull base at the age of 8 years. Her bone tumor biopsies were compatible with osteoblastoma. This case highlights the importance of verifying the clinicopathologic correlation in Cushing syndrome and careful follow-up and screening for associated diseases.

  15. Acute cholangitis due to afferent loop syndrome after a Whipple procedure: a case report.

    Science.gov (United States)

    Spiliotis, John; Karnabatidis, Demetrios; Vaxevanidou, Archodoula; Datsis, Anastasios C; Rogdakis, Athanasios; Zacharis, Georgios; Siamblis, Demetrios

    2009-08-25

    Patients with resection of stomach and especially with Billroth II reconstruction (gastro jejunal anastomosis), are more likely to develop afferent loop syndrome which is a rare complication. When the afferent part is obstructed, biliary and pancreatic secretions accumulate and cause the distention of this part. In the case of a complete obstruction (rare), there is a high risk developing necrosis and perforation. This complication has been reported once in the literature. A 54-year-old Greek male had undergone a pancreato-duodenectomy (Whipple procedure) one year earlier due to a pancreatic adenocarcinoma. Approximately 10 months after the initial operation, the patient started having episodes of cholangitis (fever, jaundice) and abdominal pain. This condition progressively worsened and the suspicion of local recurrence or stenosis of the biliary-jejunal anastomosis was discussed. A few days before his admission the patient developed signs of septic cholangitis. Our case demonstrates a rare complication with serious clinical manifestation of the afferent loop syndrome. This advanced form of afferent loop syndrome led to the development of huge enterobiliary reflux, which had a serious clinical manifestation as cholangitis and systemic sepsis, due to bacterial overgrowth, which usually present in the afferent loop. The diagnosis is difficult and the interventional radiology gives all the details to support the therapeutic decision making. A variety of factors can contribute to its development including adhesions, kinking and angulation of the loop, stenosis of gastro-jejunal anastomosis and internal herniation. In order to decompress the afferent loop dilatation due to adhesions, a lateral-lateral jejunal anastomosis was performed between the afferent loop and a small bowel loop.

  16. Aspiration-related deaths in 57 consecutive patients: autopsy study.

    Directory of Open Access Journals (Sweden)

    Xiaowen Hu

    Full Text Available Aspiration can cause a diverse spectrum of pulmonary disorders some of which can lead to death but can be difficult to diagnose.The medical records and autopsy findings of 57 consecutive patients in whom aspiration was the immediate cause of death at Mayo Clinic (Rochester, MN, USA over a 9-yr period, from January 1 2004 to December 31 2012 were analyzed.The median age at death was 72 years (range, 13-95 years and included 39 (68% males. The most common symptom before death was dyspnea (63% and chest radiography revealed bilateral infiltrates in the majority (81%. Most common precipitating factors for aspiration were depressed consciousness (46% and dysphagia (44%. Aspiration-related syndromes leading to death were aspiration pneumonia in 26 (46%, aspiration pneumonitis in 25 (44%, and large airway obstruction in 6 patients (11%. Aspiration was clinically unsuspected in 19 (33% patients. Antimicrobial therapy had been empirically administered to most patients (90% with aspiration pneumonia and aspiration pneumonitis.We conclude aspiration-related deaths occur most commonly in the elderly with identifiable risks and presenting bilateral pulmonary infiltrates. One-third of these aspiration-related pulmonary syndromes were clinically unsuspected at the time of death.

  17. Vestibular syndrome due to a choroid plexus papilloma in a ferret.

    Science.gov (United States)

    van Zeeland, Yvonne; Schoemaker, Nico; Passon-Vastenburg, Maartje; Kik, Marja

    2009-01-01

    A 6-year-old, castrated male ferret (Mustela putorius furo) was presented with progressive neurological signs consisting of a right-sided head tilt and ataxia. Neurological examination revealed hemiparesis and absence of proprioception on the right side, consistent with central vestibular syndrome. Measurement of blood glucose excluded hypoglycemia due to insulinoma. Contrast-enhanced computed tomography revealed the presence of an intracranial mass, consistent with either granuloma or neoplasia. Palliative treatment with prednisolone yielded no improvement. At postmortem examination, a final diagnosis of a choroid plexus papilloma originating from the fourth ventricle was made. This is the first report of such a tumor in a ferret.

  18. Microangiopathic antiphospholipid antibody syndrome due to anti-phosphatidylserine/prothrombin complex IgM antibody.

    Science.gov (United States)

    Senda, Yumi; Ohta, Kazuhide; Yokoyama, Tadafumi; Shimizu, Masaki; Furuichi, Kengo; Wada, Takashi; Yachie, Akihiro

    2017-03-01

    Herein we describe a case of microangiopathic antiphospholipid syndrome (MAPS) due to anti-phosphatidylserine/prothrombin complex (aPS/PT) IgM antibody successfully treated with rituximab. A significant correlation was observed between the clinical course and the aPS/PT IgM antibody titer, which can rise earlier before the appearance of clinical symptoms. Rituximab can be safely and effectively used for MAPS. Although detection of only aPS/PT IgM antibody is rare, aPS/PT IgM antibody might be associated with the pathogenesis of MAPS and might be a useful marker of disease activity. © 2017 Japan Pediatric Society.

  19. Hypokalemic paralysis due to thyrotoxicosis accompanied by Gitelman′s syndrome

    Directory of Open Access Journals (Sweden)

    S Baldane

    2015-01-01

    Full Text Available A 35-year-old male patient was admitted with fatigue and muscle weakness. He had been on methimazole due to thyrotoxicosis for 2 weeks. Laboratory tests showed overt hyperthyroidism and hypokalemia. Potassium replacement was started with an initial diagnosis of thyrotoxic hypokalemic periodic paralysis. Later on, despite the euthyroid condition and potassium chloride treatment, hypokalemia persisted. Further investigations revealed hyperreninemic hyperaldosteronism. The patient was considered to have Gitelman′s syndrome (GS and all genetic analysis was done. A c. 1145C>T, p.Thr382Met homozygote missense mutation located on solute carrier family 12, member gene 3, exon 9 was detected and GS was confirmed.

  20. [A case of Crow-Fukase syndrome with respiratory failure due to bilateral diaphragmatic paralysis].

    Science.gov (United States)

    Namekawa, Michito; Muramatsu, Shin-ichi; Hashimoto, Ritsuo; Kawakami, Tadataka; Fujimoto, Ken-ichi; Nakano, Imaharu

    2002-07-01

    A 62-year-old man with well-controlled diabetes mellitus developed numbness of the bilateral feet and hands, followed by subacutely progressive weakness and amyotrophy of extremities. He became bed-ridden state, and dyspnea also appeared, so he was referred to our hospital. Physical examination revealed a lean man, with dark-reddish skin pigmentation, crabbed fingers, bilateral pretibial pitting edema, and bristles in extremities. Thoracoabdominal paradoxical respiration was observed and pulmonary vesicular sounds was decreased markedly in the both lungs. Laboratory data revealed hypoproteinemia, abnormalities of endocrine system, but M-protein was not detected. Serum vascular endothelial growth factor level was quite high. Chest radiography revealed elevation of the bilateral diaphragm, the % vital capacity (%VC) was 24%, and arterial blood gas analysis showed marked hypoxia with hypercapnia. These findings suggested that his respiratory failure was induced by bilateral diaphragmatic paralysis caused by bilateral phrenic nerve palsy due to Crow-Fukase syndrome. He became somnolent because of hypercapnic narcosis, so non-invasive positive pressure ventilation (NIPPV) was started. We treated him with intravenous immunoglobulin and oral corticosteroids therapies, and after these therapies, his symptoms were remarkably recovered and NIPPV became unnecessary soon. The most frequent causes of respiratory failure in Crow-Fukase syndrome are pleural effusion and pulmonary hypertension, and only two cases of this syndrome with respiratory failure caused by bilateral diaphragmatic paralysis were reported until now. When the patients with Crow-Fukase syndrome complain of dyspnea, we should take the diaphragmatic paralysis into consideration, which may be improved by appropriate therapies.

  1. Poverty and aspirations failure

    NARCIS (Netherlands)

    Dalton, P.S.; Ghosal, S.; Mani, A.

    We develop a theoretical framework to study the psychology of poverty and ‘aspirations failure’, defined as the failure to aspire to one’s own potential. In our framework, rich and the poor persons share the same preferences and same behavioral bias in setting aspirations. We show that poverty can

  2. Hepatic Scintigraphic Findings of Budd-Chiari Syndrome due to Inferior Vena Caval Obstruction

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Sung Hoon; Chung, Soo Kyo; Byun, Jae Young; Lee, Sung Yong; Shinn, Kyung Sub; Kim, Choon Yul; Bahk, Yong Whee [Catholic University College of Medicine, Seoul (Korea, Republic of)

    1988-03-15

    Budd-Chiari syndrome (BCS) is a rare clinical entity characterized by post-sinusoidal portal hypertension caused by the obstruction to the hepatic vein outflow. The diagnosis is suggested by hepatic scintigraphy and is usually confirmed by hepatic venography, inferior vena cavography and biopsy. The scintigraphic finding of BCS caused by the obstruction of main hepatic vein has been reported to consist typically of hypertrophy of the caudate lobe with increased radionuclide accumulation. Such a typical finding has been accounted for by the fact that the venous outflow from the caudate lobe is preserved when the main hepatic vein is obstructed. But usually, the hepatic venous outflow from the caudate lobe is also obstructed in BCS due to inferior vena caval obstruction. So hepatic scintigraphic findings of BCS due to inferior vena caval obstruction show different findings as compared with the BCS due to hepatic vein obstruction. We evaluate the hepatic scintigrams of the 13 cases of BCS due to inferior vena caval obstruction and review the literatures. The results are as follows: 1) We cannot observe the caudate lobe hypertrophy with increased uptake, which is known as a classic finding in BCS due to hepatic vein obstruction. 2) The most prominent hepatic scintigraphic findings of BCS are nonhomogenous uptake in the liver with extrahepatic uptake in the all cases. 3) We can see cold areas at the superior aspect of right hepatic lobe in 7 cases (54%). This is a useful finding suggesting BCS due to inferior vena caval obstruction.

  3. Hepatic Scintigraphic Findings of Budd-Chiari Syndrome due to Inferior Vena Caval Obstruction

    International Nuclear Information System (INIS)

    Kim, Sung Hoon; Chung, Soo Kyo; Byun, Jae Young; Lee, Sung Yong; Shinn, Kyung Sub; Kim, Choon Yul; Bahk, Yong Whee

    1988-01-01

    Budd-Chiari syndrome (BCS) is a rare clinical entity characterized by post-sinusoidal portal hypertension caused by the obstruction to the hepatic vein outflow. The diagnosis is suggested by hepatic scintigraphy and is usually confirmed by hepatic venography, inferior vena cavography and biopsy. The scintigraphic finding of BCS caused by the obstruction of main hepatic vein has been reported to consist typically of hypertrophy of the caudate lobe with increased radionuclide accumulation. Such a typical finding has been accounted for by the fact that the venous outflow from the caudate lobe is preserved when the main hepatic vein is obstructed. But usually, the hepatic venous outflow from the caudate lobe is also obstructed in BCS due to inferior vena caval obstruction. So hepatic scintigraphic findings of BCS due to inferior vena caval obstruction show different findings as compared with the BCS due to hepatic vein obstruction. We evaluate the hepatic scintigrams of the 13 cases of BCS due to inferior vena caval obstruction and review the literatures. The results are as follows: 1) We cannot observe the caudate lobe hypertrophy with increased uptake, which is known as a classic finding in BCS due to hepatic vein obstruction. 2) The most prominent hepatic scintigraphic findings of BCS are nonhomogenous uptake in the liver with extrahepatic uptake in the all cases. 3) We can see cold areas at the superior aspect of right hepatic lobe in 7 cases (54%). This is a useful finding suggesting BCS due to inferior vena caval obstruction.

  4. Eosinophilic myocarditis due to Churg-Strauss syndrome with markedly elevated eosinophil cationic protein.

    Science.gov (United States)

    Hara, Tomoya; Yamaguchi, Koji; Iwase, Takashi; Kadota, Muneyuki; Bando, Mika; Ogasawara, Kozue; Bando, Sachiko; Ise, Takayuki; Niki, Toshiyuki; Ueda, Yuka; Tomita, Noriko; Taketani, Yoshio; Yamada, Hirotsugu; Soeki, Takeshi; Wakatsuki, Tetsuzo; Sata, Masataka

    2013-01-01

    A 67-year-old woman with asthma visited our hospital with increasing dyspnea and new-onset paresthesia and purpura in her legs. Physical examination showed a wheeze, pretibial edema, and surrounding purpura. Chest X-rays showed cardiac decompensation and an electrocardiogram revealed a new ST-T change. Laboratory data showed leukocytosis, hypereosinophilia (10,450/μL), troponin T(+), elevated BNP, and markedly elevated eosinophil cationic protein (ECP) (> 150 ng/mL). Echocardiography revealed diffuse left ventricular hypokinesis (ejection fraction 30%) with increased wall thickness. Coronary angiography was normal. Cardiac magnetic resonance imaging implied diffuse myocardial edema and subendocardial late gadolinium enhancement. Skin biopsy of purpura showed superfi cial perivascular dermatitis with remarkable eosinophilic infiltrations. No evidence of drug allergies, parasitic infection, or myeloproliferative disorder was detected. Based on these findings, a diagnosis of eosinophilic myocarditis due to Churg-Strauss syndrome was considered. She was administered prednisolone at a dose of 1 mg/kg, cyclophosphamide, and diuretics. Several markers of eosinophilic myocarditis and heart failure gradually improved, including ECP. She was discharged 30 days later with no cardiac event. Eosinophilic myocarditis is characterized by predominantly eosinophilic infi ltration. Eosinophilic granule proteins, such as ECP and major basic protein, play important roles in the pathogenesis of eosinophilic myocarditis. We experienced a rare case of eosinophilic myocarditis due to Churg-Strauss syndrome. Markedly elevated ECP played an important role in the early diagnosis and subsequent reduction in ECP served as a marker of monitoring. In an asthmatic patient with dyspnea, hypereosinophilia, and vasculitis, Churg-Strauss syndrome with eosinophilic myocarditis should be considered.

  5. Letter to Editor: Carpal tunnel syndrome due to an atypical deep soft tissue leiomyoma: The risk of misdiagnosis and mismanagement

    Directory of Open Access Journals (Sweden)

    Caliandro Pietro

    2008-02-01

    Full Text Available Abstract A response to Chalidis et al: Carpal tunnel syndrome due to an atypical deep soft tissue leiomyoma: The risk of misdiagnosis and mismanagement. World J Surg Oncol 2007, 5:92.

  6. Skin vasomotor hemiparesis followed by overactivity: characteristic thermography findings in a patient with Horner syndrome due to spinal cord infarction.

    Science.gov (United States)

    Kobayashi, Makoto

    2016-04-01

    We present a 21-year-old female with Horner syndrome due to spinal cord infarction. In this patient, infrared thermography revealed a hemibody skin temperature increase followed by excessive focal decreases, indicating skin vasomotor hemiparesis and overactivity.

  7. Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction.

    Science.gov (United States)

    Gyftodimou, J; Karadima, G; Pandelia, E; Vassilopoulos, D; Petersen, M B

    1999-06-01

    We report a case of Angelman syndrome (AS) with paternal uniparental disomy (pUPD) of chromosome 15. This 6-year-old girl with overgrowth had frequent, but only provoked laughter, was mildly ataxic with limb hypertonia, and had no intelligible speech. She had deep-set eyes, protruding tongue, and prominent chin. The karyotype was normal. DNA analysis with microsatellites from chromosome 15 showed no inheritance of maternal alleles both within and outside the AS critical region. Proximal markers showed reduction to homozygosity of paternal alleles, intermediate markers showed nonreduction, and distal markers reduction, thus suggesting a meiosis II nondisjunction event in the father with two crossovers. This is, to our knowledge, the first reported case of AS due to meiosis II nondisjunction. We present detailed physical measurements in this patient, adding to the clinical description of the milder phenotype in AS due to pUPD.

  8. Severe jaundice due to coexistence of Dubin-Johnson syndrome and hereditary spherocytosis: a case report.

    Science.gov (United States)

    Korkmaz, Uğur; Duman, Ali Erkan; Oğütmen Koç, Deniz; Gürbüz, Yeşim; Dındar, Gökhan; Ensaroğlu, Fatih; Sener, Selçuk Yusuf; Sentürk, Omer; Hülagü, Sadettin

    2011-08-01

    Dubin-Johnson syndrome is a chronic, benign, intermittent jaundice, mostly of conjugated hyperbilirubinemia. The level of bilirubin is not expected to be more than 20 mg/dl in this syndrome. In this article, we report a patient who was evaluated for hyperbilirubinemia and liver function test abnormalities and diagnosed with Dubin-Johnson syndrome coexisting with hereditary spherocytosis. We suggest that other diseases should be investigated if patients with Dubin-Johnson syndrome present with severe hyperbilirubinemia. Dubin-Johnson syndrome accompanied by hemolytic diseases might also have high coproporphyrin levels (as in Rotor's syndrome) than expected in pure Dubin-Johnson syndrome.

  9. Refeeding syndrome in a patient with advanced kidney failure due to nephronophthisis.

    Science.gov (United States)

    El-Reshaid, Kamel

    2013-11-01

    Refeeding syndrome (RS) is a serious and potentially fatal disorder. It is caused by a shift of fluids, sodium, potassium, magnesium and phosphorus as well changes in the metabolism of glucose, protein, fat and vitamins following the refeeding of malnourished patients, whether enterally or parenterally. RS has rarely been reported in patients with advanced kidney disease probably due to the pre-existing hyperphosphatemia, hypermagnesemia and hyperkalemia in these patients. In the following report, we present a patient with nephronophthisis type 1 deletion syndrome in whom her main previous nutrition was limited to simply rehydration to avoid renal replacement therapy. On presentation, she was cachectic and dehydrated with advanced kidney failure. She was treated with medical nephrectomy using non-steroidal anti-inflammatory drugs and then placed on maintenance hemodialysis. Percutaneous endoscopic gastrostomy was used for her initial feeding. Care was exercised during her early refeeding with regard to correction of fluids and essential electrolytes, viz. potassium, phosphorus and magnesium, as well as multivitamins to avoid the cardiovascular and neurological complications of RS. However, the changes in the gut, pancreas and liver as well as her hyperlipidemia were a clear obstacle. Fortunately, the ileus and pancreatitis she developed on refeeding improved dramatically with a decrease of the feeding dose to half; however, the liver abnormalities and hyperlipidemia were severe and slow to recover. These improved after addition of ursodeoxycholic acid and permitted successful increase of the dose of feeding subsequently.

  10. Refeeding syndrome in a patient with advanced Kidney failure due to Nephronophthisis

    Directory of Open Access Journals (Sweden)

    Kamel El-Reshaid

    2013-01-01

    Full Text Available Refeeding syndrome (RS is a serious and potentially fatal disorder. It is caused by a shift of fluids, sodium, potassium, magnesium and phosphorus as well changes in the metabolism of glucose, protein, fat and vitamins following the refeeding of malnourished patients, whether enterally or parenterally. RS has rarely been reported in patients with advanced kidney disease probably due to the pre-existing hyperphosphatemia, hypermagnesemia and hyperkalemia in these patients. In the following report, we present a patient with nephronophthisis type 1 deletion syndrome in whom her main previous nutrition was limited to simply rehydration to avoid renal replacement therapy. On presentation, she was cachectic and dehydrated with advanced kidney failure. She was treated with medical nephrectomy using non-steroidal anti-inflammatory drugs and then placed on maintenance hemodialysis. Percutaneous endoscopic gastrostomy was used for her initial feeding. Care was exercised during her early refeeding with regard to correction of fluids and essential electrolytes, viz. potassium, phosphorus and magnesium, as well as multivitamins to avoid the cardiovascular and neurological complications of RS. However, the changes in the gut, pancreas and liver as well as her hyperlipidemia were a clear obstacle. Fortunately, the ileus and pancreatitis she developed on refeeding improved dramatically with a decrease of the feeding dose to half; however, the liver abnormalities and hyperlipidemia were severe and slow to recover. These improved after addition of ursodeoxycholic acid and permitted successful increase of the dose of feeding subsequently.

  11. Corticosteroid-induced asthma: a manifestation of limited hyperinfection syndrome due to Strongyloides stercoralis.

    Science.gov (United States)

    Sen, P; Gil, C; Estrellas, B; Middleton, J R

    1995-09-01

    Inadequate therapeutic response to parenteral corticosteroids in patients with acute bronchial asthma is infrequent. We report four patients whose bronchial asthma symptoms worsened after treatment with parenteral corticosteroids. All had larvae of Strongyloides stercoralis in the stool. The new attack or the exacerbation of asthma appeared to be precipitated by systemic corticosteroid administration. The paradoxic therapeutic response of asthma to glucocorticoides was the major pulmonary manifestation of Strongyloides superinfection; there was no evidence of other organ involvement. Individuals with new onset of bronchial asthma or worsening of asthmatic episodes concurrent with the use of systemic corticosteroids should have thorough investigation for possible superinfection due to Strongyloides stercoralis. This is particularly important for patients who have resided in areas where intestinal helminthic infections are endemic. Discontinuance of steroid therapy or reduction in dosage of parenteral steroids appears necessary. Treatment with thiabendazole appears to be effective in patients with limited hyperinfection syndrome.

  12. Septic Shock due to Cytomegalovirus Infection in Acute Respiratory Distress Syndrome after Falciparum Malaria.

    Science.gov (United States)

    Harbarth; Meyer; Grau; Loutan; Ricou

    1997-09-01

    Incidence of falciparum malaria in developed countries has increased in recent years due to tourism to tropical countries and immigration from Asia and Africa. In Switzerland, about 250 cases of malaria were reported in 1994 to the Federal Office of Health, including three cases with fatal outcome.1 The most commonly described complications of plasmodia infection are cerebral malaria, acute renal failure, and severe anemia with disseminated intravascular coagulation. However, pulmonary involvement occurs in 3 to 10% of cases and represents the most serious complication of this infection, with a lethality of 70%.2,3 Furthermore, a pronounced general immunosuppression has been reported in malaria patients, which may predispose them to opportunistic infections.4 We report a case of Plasmodium falciparum infection complicated by severe acute respiratory distress syndrome (ARDS) with development of systemic cytomegalovirus (CMV) infection leading to death. This evolution implies a severe immune deficiency associated with malaria, as previously suggested in the literature.

  13. Association between anxiety and depression in patients with acute coronary syndromes due to financial crisis.

    Science.gov (United States)

    Lampropoulos, Kostandinos; Kavvouras, Charalampos; Megalou, Aikaterini; Tsikouri, Pinelopi; Kafkala, Chrysanthi; Derka, Dimitra; Bonou, Maria; Barbetseas, John

    2016-01-01

    The effect of anxiety and depression on patients with acute coronary syndromes (ACS) warrants investigation, especially during periods of economic crisis. To investigate the relation between anxiety and depression in patients presenting with ACS due to financial crisis and to investigate whether these two entities could predict long-term cardiovascular mortality. Anxiety and depression symptoms were assessed in 350 patients (210 men) presenting with ACS, with 70 (20%) patients showing elevated scores (Hellenic Heart Failure Protocol). Over a mean follow-up of 48 months there were 36 (10%) cardiovascular deaths. Cox proportional hazards models adjusted for other prognostic factors (including age, sex, marital status, creatinine levels, left ventricular ejection fraction, heart failure, atrial fibrillation, previous hospitalisation, and baseline medications) showed that elevated anxiety and depression scores significantly predicted cardiovascular mortality (primary outcome) and all-cause mortality. Elevated anxiety and depression symptoms are related to cardiovascular mortality due probably to financial crisis, even after adjustment for other prognostic indicators in patients with ACS, who received optimised medical treatment.

  14. Gender differences in patients starting long-term home mechanical ventilation due to obesity hypoventilation syndrome.

    Science.gov (United States)

    Palm, Andreas; Midgren, Bengt; Janson, Christer; Lindberg, Eva

    2016-01-01

    Obesity hypoventilation syndrome (OHS) is often diagnosed late. The aim of this study was to analyse gender differences at initiation of long-term mechanical ventilation (LTMV) in patients with (OHS), to analyse gender differences in treatment effect and to study how the prescription of LTMV due to OHS has changed over time. Data on patients on LTMV due to OHS between 1996 and 2014 were obtained from Swedevox, a nationwide health quality registry of patients on LTMV in Sweden. When starting LTMV, women were generally older (age 64.4 ± 11.2 vs. 60.1 ± 12.1 years, p obese (BMI 43.0 ± 8.2 vs. 41.5 ± 7.9 kg/m2, p differ. During the study period, the age of patients at the initiation of LTMV rose by 3.4 years/decade (P = 0.001) in women and with 1.9 years/decade (P = 0.048) in men but there were no significant changes in BMI (P = 0.425). Diagnosis of OHS is more delayed in women and as a consequence the disease is more advanced when diagnosed. In spite of this, there is no gender difference in survival rate in patients with OHS treated with LTMV. More and older patients with OHS nowadays gain access to LTMV. Copyright © 2015 Elsevier Ltd. All rights reserved.

  15. The Compartment Syndrome Associated with Deep Vein Thrombosis due to Rattlesnake Bite: A Case Report

    Directory of Open Access Journals (Sweden)

    Radu Ciprian Tincu

    2017-08-01

    Full Text Available Background: Snakebite is a health issue specific to some parts of the world, especially in the tropical area, where it produces many victims. The main clinical damage caused by snake bite involves hemotoxic, neurotoxic and myotoxic reactions. It is also established that the importance of systemic impairment varies according to individual factors and are related to organ dysfunction, shock or hypotension. We report the case of a young woman suffering from snakebite who developed deep vein thrombosis and compartment syndrome. Case Report: We present the case of a 32-year-old Romanian woman who was injured by her own Crotalinae snake (also known as pit viper or rattlesnake on her left forearm. When admitted to our Emergency Department, she was conscious with a Glasgow coma scale of 12/15, somnolent, febrile, suffering of headache, tachypnea; the marks of the snakebite were located in the distal part of the anterior left forearm; she had pain and bleeding at the bite site and swelling of the left upper limb with lymphangitis up to the axilla. She experienced fasciotomy-requiring compartment syndrome of the upper limb and required unfractionated heparin and closed monitored using activated partial thromboplastin time evolution due micro-thrombosis in the brachial vein. Local improvement was achieved in the next 4 days with progressive diminish of local tenderness and swelling. Conclusion: Limb deep vein thrombosis might be induced by snakebite, despite pro-hemorrhagic general condition induced by the envenomation. High index of clinical suspicion is needed for early diagnosis and timely management which can improve survival of these patients

  16. Poverty and Aspirations Failure

    NARCIS (Netherlands)

    Dalton, P.S.; Ghosal, S.; Mani, A.

    2011-01-01

    We develop a theoretical framework to study the psychology of poverty and 'aspirations failure'. In our framework, the rich and the poor share the same preferences - and also a behavioral bias in setting aspirations. Greater downside risks imposed by poverty exacerbates the effects of this

  17. Sensory Loss Mimicking Cauda Equina Syndrome due to Cervical Spinal Lesion in a Patient with Clinically Isolated Syndrome

    OpenAIRE

    Vinceti, Giulia; Zini, Andrea; Nichelli, Paolo; Mandrioli, Jessica

    2012-01-01

    We describe the case of a 39-year-old woman with signs and symptoms suggesting cauda equina syndrome. Lumbosacral magnetic resonance imaging (MRI) demonstrated no lesion at this level, while cervical MRI showed a T2-hyperintense lesion in the middle-right anterolateral region of the cervical spinal cord, which may explain the symptoms by involving the anterior spinothalamic tract. We suggest that in cases with cauda equina syndrome presentation and normal lumbosacral MRI, a cervicodorsal lesi...

  18. [Good's syndrome and congenital toxoplasmosis due to maternal reactivation during pregnancy].

    Science.gov (United States)

    Tahiri, J; Fouyssac, F; Morel, O; Maatouk, A

    2017-05-01

    Good syndrome is a rare condition in which thymoma is associated with hypogammaglobulinemia. It is characterized by an increased susceptibility to infections. We report a woman with Good's syndrome diagnosed after severe congenital toxoplasmosis in her daughter, even though she was immunized against this infection during pregnancy. This presentation is very unusual by its early diagnosis and to our knowledge is the first report of parasitic infection in this syndrome. Copyright © 2016. Published by Elsevier SAS.

  19. Trauma due to Self-aggression in Patient with Waardenburg Syndrome associated with Congenital Anomalies.

    Science.gov (United States)

    Marta, Sara Nader; Kawakami, Roberto Yoshio; Sgavioli, Claudia Almeida Prado Piccino; Correa, Ana Eliza; D'Árk de Oliveira El Kadre, Guaniara; Carvalho, Ricardo Sandri

    2016-08-01

    Waardenburg syndrome (WS) is an inherited autosomal dominant genetic disorder presenting variable penetrance and expressivity, with an estimated prevalence of 1:42,000. Clinical characteristics of WS include lateral displacement of the internal eye canthus, hyperplasia of the medial portion of the eyebrows, prominent and broad nasal base, congenital deafness, pigmentation of the iris and skin, and white forelock. A 24-year-old male patient, previously diagnosed with WS, was referred to the Special Needs Dental Clinic of Sacred Heart University, Bauru, Brazil. Parents reported that the patient was experiencing self-mutilation, particularly in the oral region. He presented multiple congenital anomalies, including anophthalmia, mental retardation, low-set ears, and leg deformities. Clinical oral examination revealed hypodontia, abnormalities in dental morphology, extensive dental caries, periodontal disease, and fistulae. Extensive scars on the tongue, lips, and hands caused by self-mutilation were also observed. In accordance with his family and neurologist, full-mouth extraction under general anesthesia was performed, especially considering his severe self-aggressive behavior and the necessity to be fed with soft-food diet due to his inability to chew. After the surgical procedure, a significant reduction in the patient's irritability and gain of weight were reported in the follow-ups of 30, 60, and 180 days.

  20. Assessment of the Personal Losses Suffered by Correctional Officers due to Burnout Syndrome.

    Science.gov (United States)

    Stoyanova, R G; Harizanova, S N

    2016-01-01

    Professional burnout is defined as a state of depletion and loss of motivation accompanied by different mental and physical symptoms. To assess personal losses suffered by correctional officers due to burnout. This cross-sectional study conducted between June and December 2012 included 201 correctional officers in two Bulgarian prisons. The mean age of the whole group was 41.2 (SD 8.0) years. The respondents was mostly male (56.7%), married (72.6%), had a secondary educational level (61.7%), and 76.1% of them had been in current prison work over 5 years. The demographic characteristics had no influence on the occurrence of burnout but there was a correlation between level of burnout and the number of sick-leaves, the need for medical help, and the expenses spent on medications. Officers affected by burnout took more sick-leaves and this affected adversely their remuneration as they lost 3.1% of their annual wages. Their expenses spent on user fees for medical services were 3 times higher. Their monthly expenses spent on medications were 3.14 times higher than those of people without the burnout syndrome. The high level of burnout has a negative personal economic effect on the prison employees.

  1. Recurrent Syncope Due to Carotid Sinus Hypersensitivity and Sick Sinus Syndrome

    Directory of Open Access Journals (Sweden)

    Feng-Yu Kuo

    2008-10-01

    Full Text Available Syncope is a sudden and brief loss of consciousness with postural tone. Its recovery is usually spontaneous. There are various causes of syncope including cardiac, vascular, neurologic, metabolic and miscellaneous origins. The tracing is usually time-consuming and costly. The diagnosis of carotid sinus syncope may sometimes be difficult since the symptoms are nonspecific, especially in older persons. Here, we report the case of a 72-year-old woman who sought medical attention at our hospital due to repeated syncope episodes over the previous 5 years. Neurologic examinations showed negative results (including brain computed tomography. Twenty-four-hour ambulatory electrocardiogram monitoring showed atrial and ventricular premature contractions only. Electrophysiologic study disclosed prolonged corrected sinus node recovery time (1,737 ms with poor atrioventricular conduction. Drop of blood pressure together with sinus bradycardia developed after left side carotid sinus massage. Both carotid sinus hypersensitivity with sick sinus syndrome contributed to this patient's syncope, and after pacemaker placement together with selective serotonin reuptake inhibitor treatment, she was free from syncope thereafter.

  2. [A case of occupational contact urticaria and oral allergy syndrome due to seafood].

    Science.gov (United States)

    Yamaguchi, Junko; Inomata, Naoko; Hirokado, Michiko; Shimakura, Kuniyoshi; Shiomi, Kazuo; Ikezawa, Zenro

    2007-01-01

    A 20-year-old woman was referred for evaluation after about 2 years of recurrent episodes of localized urticaria during handling of several kinds of raw fish in a sushi shop, where she had worked part-time for 2 years. She had also experienced allergic symptoms such as itching and swelling of her lips, generalized urticaria, laryngeal tightness, stridor and dyspnea immediately after ingestion of raw and cooked seafood, including sole, horse mackerel, sea eel and shellfish, over the previous 1 year before referral. Skin prick tests and blood test for specific IgE antibodies were positive for many kinds of seafood, including sole, horse mackerel, sea eel, eel, crab, and abalone, which belonged to different taxonomic phyla, including Chordata, Arthropoda, and Mollusca. A challenge with a piece of broiled sole induced swelling of the lips, obstruction of the larynx, difficulty with deglutition, and abdominal pain. In addition, serum-specific IgE antibodies to two major fish allergens, parvalbumin and collagen, were detected by ELISA, suggesting that allergic symptoms could be induced by many kinds of seafood in the present patient. She was therefore diagnosed with occupational contact urticaria and oral allergy syndrome due to seafood. At the time of this report, the present patient had been followed for one year and no reactions have occurred since she started to avoid the causative types of seafood.

  3. Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias.

    Science.gov (United States)

    Zago, Claudia Augusta; Jacob, Cristina Miuki Abe; de Albuquerque Diniz, Edna Maria; Lovisolo, Silvana Maria; Zerbini, Maria Claudia Nogueira; Dorna, Mayra; Watanabe, Letícia; Fernandes, Juliana Folloni; Rocha, Vanderson; Oliveira, João Bosco; Carneiro-Sampaio, Magda

    2014-07-01

    B+NK+SCID (severe combined immunodeficiency) due to IL7Rα deficiency represents approximately 10% of American SCID cases. To better understand the spectrum of autoimmune disorders associated with IL7Rα deficiency, we describe two unrelated IL7Rα-deficient female SCID infants whose clinical picture was dominated by autoimmune manifestations: one with intrauterine Omenn syndrome (OS) and another with persistent thrombocytopenic purpura since 4months of age. The OS baby harbored a homozygous p.C118Y mutation in IL7R. She presented dense eosinophilic infiltrates in several organs, including pancarditis, which may have contributed to her death (on the 2nd day of life). B cells were observed in lymph nodes, spleen, bone marrow and thymus. The second patient harbored compound heterozygous p.C118Y and p.I121NfsX8 mutations. She underwent a successful unrelated cord blood transplant. In conclusion, early OS can be observed in patients with IL7R mutations, and autoimmune cytopenias could also complicate the clinical course of SCID babies with this type of defect. Copyright © 2014. Published by Elsevier Inc.

  4. Assessment of the Personal Losses Suffered by Correctional Officers due to Burnout Syndrome

    Directory of Open Access Journals (Sweden)

    RG Stoyanova

    2016-01-01

    Full Text Available Background: Professional burnout is defined as a state of depletion and loss of motivation accompanied by different mental and physical symptoms. Objective: To assess personal losses suffered by correctional officers due to burnout. Methods: This cross-sectional study conducted between June and December 2012 included 201 correctional officers in two Bulgarian prisons. The mean age of the whole group was 41.2 (SD 8.0 years. The respondents was mostly male (56.7%, married (72.6%, had a secondary educational level (61.7%, and 76.1% of them had been in current prison work over 5 years. Results: The demographic characteristics had no influence on the occurrence of burnout but there was a correlation between level of burnout and the number of sick-leaves, the need for medical help, and the expenses spent on medications. Officers affected by burnout took more sick-leaves and this affected adversely their remuneration as they lost 3.1% of their annual wages. Their expenses spent on user fees for medical services were 3 times higher. Their monthly expenses spent on medications were 3.14 times higher than those of people without the burnout syndrome. Conclusion: The high level of burnout has a negative personal economic effect on the prison employees.

  5. Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report.

    Science.gov (United States)

    Bocchini, Sarah; Fintini, Danilo; Grugni, Graziano; Boiani, Arianna; Convertino, Alessio; Crinò, Antonino

    2017-09-22

    Thyroid gland disorders are variably associated with Prader-Willi syndrome (PWS). Many of the clinical features in newborns with PWS are similar to those found in congenital hypothyroidism (CH). We report a case of a girl with CH and PWS. At the age of 9 months CH caused by an ectopic sublingual thyroid was diagnosed, and hormone replacement therapy was started. In spite of this treatment a decrease in growth velocity, weight excess and delayed development were observed. At the age of 9 years PWS was suspected on the basis of phenotype and genetic tests confirmed a maternal uniparental disomy of chromosome 15. This is the second reported case of hypothyroidism due to an ectopic sublingual thyroid gland in PWS suggesting that, although rare, an association between CH and PWS may exist. In our case diagnosis of PWS was delayed because mental retardation, hypotonia, obesity and short stature were initially attributed to hypothyroidism. In this context PWS should be considered in obese children with CH who do not improve adequately with l-thyroxine therapy. Also, thyroid function in all PWS children should be assessed regularly in order to avoid delayed diagnosis of hypothyroidism.

  6. Sudden Cardiac Arrest due to Brugada Syndrome: a Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    R Soleimanirad

    2013-04-01

    Full Text Available Brugada Syndrome is a rare cause of sudden cardiac arrest and has a unique ECG pattern. In fact, with ST-segment elevation down sloping in the right precordial leads (v1-v3, RBBB pattern in lateral leads and J-point elevation is revealed. We must notice and avoid trigger factors of this syndrome during general anesthesia. Patient is a 39 old man who attended to emergency department with sudden cardiac arrest and resuscitate. He was transferred to ICU for management of hypoxic ischemic encephalopathy. Complementary studies concluded the diagnosis of Brugada syndrome. We must consider Brugada syndrome within patients with family history of sudden cardiac arrest. Moreover, we must avoid trigger factors of this syndrome such as fever, bradicardia and electrolyte abnormality (specialy Na, Ca abnormalities during general anesthesia and if they appear, we should treat them.

  7. ''Dropped-head'' syndrome due to isolated myositis of neck extensor muscles: MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Gaeta, Michele; Mazziotti, Silvio; Blandino, Alfredo [University of Messina, Department of Radiological Sciences, Messina (Italy); Toscano, Antonio; Rodolico, Carmelo; Mazzeo, Anna [University of Messina, Department of Neurosciences, Psychiatry and Anaesthesiology, Messina (Italy)

    2006-02-15

    MRI findings of a patient with dropped-head syndrome due to focal myositis of the neck extensor muscles are presented. MRI showed oedematous changes and marked enhancement of the neck extensor muscles. After therapy MRI demonstrated disappearance of the abnormal findings. (orig.)

  8. Anthropometry in Klinefelter syndrome - multifactorial influences due to CAG length, testosterone treatment and possibly intrauterine hypogonadism

    DEFF Research Database (Denmark)

    Chang, Simon; Skakkebæk, Anne; Trolle, Christian

    2015-01-01

    Lægmandsresume: Kropsmålene hos mænd med Klinefelter syndrom afhænger af genetiske forhold, testosteronbehandling og muligvis testosteronniveauet i fosterlivet. Kun omkring 25-40% af de som fødes med Klinefelter syndrom, får nogensinde stillet diagnosen. Dette kan til dels skyldes, at det kan være...... særdeles vanskeligt at skelne mænd med Klinefelter syndrom fra mænd uden Klinefelter syndrom. Vi har (derfor) gennemført et studie med henblik på at sammenligne en lang række forskellige kropsmål imellem mænd med- og uden Klinefelter syndrom. Vi sammenholdt desuden kropsmålene med forskellige blodprøvesvar...... på bl.a. niveauet af kønshormoner. Vi undersøgte også om genetiske forhold relateret til det ekstra X-kromosom havde nogen effekt på kropsmålene. I alt undersøgte vi 73 mænd med Klinefelter syndrom og 73 mænd uden Klinefelter syndrom. Vi målte en lang række kropsmål som fx benlængde, livvidde mf. Vi...

  9. IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene.

    Science.gov (United States)

    Bertelloni, Silvano; Baroncelli, Giampiero I; Dati, Eleonora; Ghione, Silvia; Baldinotti, Fulvia; Toschi, Benedetta; Simi, Paolo

    2013-01-01

    Short stature represents one of the main features of children with Noonan syndrome. The reason for impaired growth remains largely unknown. To assess GH and IGF1 secretion in children with Noonan syndrome. 12 prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene [7 males, 6 females; median age, years: 8.6 (range 5.1-13.4)] were studied; 12 prepubertal children with short stature (SS) [7 males, 5 females; median age, years: 8.1 (range 4.8-13.1)] served as the control group. GH secretion after arginine stimulation test; IGF1 generation test by measurement of IGF1 levels before and after recombinant GH (rGH) administration (0.05 mg/kg/day for 4 days). Baseline and stimulated peak values of GH were not significantly different between the two groups. At +120 minutes, GH levels remained significantly higher (p = 0.0121) in comparison with baseline values in children with Noonan syndrome. Baseline IGFI levels in patients and in SS controls were not significantly different, in contrast to values after the rGH generation test [205 ng/mL (interquartiles 138.2-252.5 ng/mL) and 284.5 ng/mL (interquartiles 172-476 ng/mL), respectively; p = 0.0248]. IGF1 values were significantly related to height (baseline: r = 773, p = 0.0320; peak: r = 0.591, p = 0.0428) in children with Noonan syndrome. Blunted increase of IGF1 after the rGH generation test was present in children with Noonan syndrome due to mutations in the PTPN11 gene in comparison with SS children. This finding may be due to partial GH resistance in the former likely related to altered Ras-MAPK signaling pathway.

  10. Joint Aspiration (Arthrocentesis)

    Science.gov (United States)

    ... her in place. Explain the procedure in simple language, including where on his or her body the aspiration will be performed. After the procedure, make sure your child rests and follow any other instructions the doctor ...

  11. Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome

    NARCIS (Netherlands)

    Gomez Garcia, E.B.; Lobbes, M.B.; van de Vijver, K.; Keymeulen, K.; van der Ent, F.; Yntema, H.G.; Tjan-Heijnen, V.C.; Boetes, C.

    2012-01-01

    Cowden syndrome (CS) is an autosomal dominant disorder characterized by presence of multiple hamartomas, and other benign and malignant abnormalities of the breasts, skin, thyroid, endometrium, gastrointestinal tract, and central nervous system. Hamartomas are benign, developmentally disorganized

  12. Immunoglobulins of patients with Cushing's syndrome due to pigmented adrenocortical micronodular dysplasia stimulate in vitro steroidogenesis

    NARCIS (Netherlands)

    Wulffraat, N. M.; Drexhage, H. A.; Wiersinga, W. M.; van der Gaag, R. D.; Jeucken, P.; Mol, J. A.

    1988-01-01

    The putative stimulation of adrenal steroid production by immunoglobulins (Igs) of five patients with pigmented adrenocortical micronodular dysplasia and clinical Cushing's syndrome was investigated. Ascorbate depletion, a process linked to steroid production, was measured by a cyto-chemical

  13. Anton’s Syndrome due to Bilateral Ischemic Occipital Lobe Strokes

    Directory of Open Access Journals (Sweden)

    Sanela Zukić

    2014-01-01

    Full Text Available We present a case of a patient with Anton’s syndrome (i.e., visual anosognosia with confabulations, who developed bilateral occipital lobe infarct. Bilateral occipital brain damage results in blindness, and patients start to confabulate to fill in the missing sensory input. In addition, the patient occasionally becomes agitated and talks to himself, which indicates that, besides Anton’s syndrome, he might have had Charles Bonnet syndrome, characterized by both visual loss and hallucinations. Anton syndrome, is not so frequent condition and is most commonly caused by ischemic stroke. In this particular case, the patient had successive bilateral occipital ischemia as a result of massive stenoses of head and neck arteries.

  14. AngioVac Aspiration for Paradoxical Emboli Protection through a Fenestrated Fontan During Central Venous Thrombus Manipulation

    Energy Technology Data Exchange (ETDEWEB)

    Al-Hakim, Ramsey, E-mail: ralhakim@mednet.ucla.edu [University of California, Department of Radiology, Division of Interventional Radiology (United States); Patel, Komal, E-mail: kdpatel@mednet.ucla.edu [University of California, Department of Anesthesiology, Division of Cardiothoracic Anesthesiology (United States); Moriarty, John M., E-mail: jmoriarty@mednet.ucla.edu [University of California, Department of Radiology, Division of Interventional Radiology (United States)

    2015-06-15

    This case reports describes a 39-year-old female with a history of surgically repaired hypoplastic left heart syndrome who presented with a left peripherally inserted central catheter (PICC) with associated large volume subclavian and brachiocephalic vein thrombus. Due to the presence of a right-to-left shunt via a fenestrated Fontan, there was clinical concern for a paradoxical embolism during removal of the PICC. The AngioVac aspiration system was successfully utilized to aspirate thromboemboli from the level of the proximal Glenn shunt during manipulation and removal of the PICC. This is the first reported case to demonstrate the safe and effective use of the AngioVac aspiration system for protection of paradoxical emboli through a cardiac right-to-left shunt during a procedure at high risk for thromboembolism.

  15. [Children less than 3 months hospitalised due to acute febrile syndrome. 5 years clinical experience].

    Science.gov (United States)

    Méndez Espinola, Benigno Miguel; Herrera Labarca, Patricio

    2015-01-01

    Acute fever of unknown origin (AFUO) is established when the anamnesis and physical examination cannot identify the cause. In infants less than 3 months-old this is situation for concern, due to the risk of a serious bacterial infection. To describe the clinical and laboratory variable of patients with AFUO, in order to look for clues in order to base studies on the decisions arising drom this problem. A report is presented on a retrospective study conducted on a cohort of children less than three months-old admitted to the Hospital Roberto del Río (2007-2011) due to an AFUO. Clinical histories were reviewed and the patients were grouped, according to the severity of the admission diagnosis, into severe and non-severe. They were compared in strata determined by the variables of clinical interest. A total of 550 children were admitted with AFUO during the study period. There was low agreement between the severity on admission and at discharge (kappa=0.079; P=.26). There were 23.8% of children in the severe group and 76.2% in the non-severe group. Urinary tract infection predominated in the severe group (68.7%) and 40.7% with acute febrile syndrome in the non-severe group. The cut-off levels for C-reactive protein, white cells, and neutrophils per mm(3), to calculate the fixed and variable indices, only showed negative predictive values of some use for ruling out serious bacterial infection. The ROC curves with white cell and neutrophil counts and C-reactive protein, did not provide andy fixed indices of clinical use. More than one-third (34.6%) of lumbar punctures were traumatic or failures. According to the results of this study, there is an obvious excess of hospital admissions, little usefulness in the examinations to identify serious bacterial infection, a high percentage lumbar punctures traumatic and lumbar punctures failures, and an excess of antibiotic treatments. A review of clinical criteria and procedures is needed. Copyright © 2015 Sociedad Chilena de

  16. Lethal Progressive Thoracic Insufficiency in a Neonate Due to Jarcho Levin Syndrome

    Science.gov (United States)

    Bhutia, Euden; Maria, Arti; Verma, Arushi; Sethi, Sidharth Kumar

    2014-01-01

    A rare case of Jarcho Levin syndrome (JLS) presenting as a lethal progressive respiratory insufficiency in early neonatal period is reported. The neonate had classical features of this syndrome including vertebral segmentation defects, typical costo-vertebral fusion defects and scoliosis resulting in small thoracic volume and limited chest expansion; all consistent with a clinical diagnosis of JLS with thoracic insufficiency. In addition, our case had a rare association of dextrocardia and acyanotic congenital heart disease. PMID:24741543

  17. [Severe type A insulin resistance syndrome due to a mutation in the insulin receptor gene].

    Science.gov (United States)

    Ros, P; Colino-Alcol, E; Grasso, V; Barbetti, F; Argente, J

    2015-01-01

    Insulin resistance syndromes without lipodystrophy are an infrequent and heterogeneous group of disorders with variable clinical phenotypes, associated with hyperglycemia and hyperinsulinemia. The three conditions related to mutations in the insulin receptor gene are leprechaunism or Donohue syndrome, Rabson-Mendenhall syndrome, and Type A syndrome. A case is presented on a patient diagnosed with type A insulin resistance, defined by the triad of extreme insulin resistance, acanthosis nigricans, and hyperandrogenism, carrying a heterozygous mutation in exon 19 of the insulin receptor gene coding for its tyrosine kinase domain that is crucial for the catalytic activity of the receptor. The molecular basis of the syndrome is reviewed, focusing on the structure-function relationships of the insulin receptor, knowing that the criteria for survival are linked to residual insulin receptor function. It is also pointed out that, although type A insulin resistance appears to represent a somewhat less severe condition, these patients have a high morbidity and their treatment is still unsatisfactory. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  18. Is the frontal dysexecutive syndrome due to a working memory deficit? Evidence from patients with stroke.

    Science.gov (United States)

    Roussel, Martine; Dujardin, Kathy; Hénon, Hilde; Godefroy, Olivier

    2012-07-01

    Although frontal dysexecutive disorders are frequently considered to be due to working memory deficit, this has not been systematically examined and very little evidence is available for impairment of working memory in frontal damage. The objective of this study was to examine the components of working memory, their anatomy and the relations with executive functions in patients with stroke involving the frontal or posterior cortex. The study population consisted of 29 patients (frontal: n=17; posterior: n=12) and 29 matched controls. Phonological loop (letter and word spans, phonological store; rehearsal process), visuospatial sketchpad (visuospatial span) and the central executive (working memory span, dual task and updating process) were examined. The group comparison analysis showed impairment in the frontal group of: (i) verbal spans (Pdeficit of the rehearsal process (P=0.006); (iii) visuospatial span (P=0.04); (iv) working memory span (P=0.001) that disappeared after controlling for verbal span and (v) running memory (P=0.05) unrelated to updating conditions. The clinical anatomical correlation study showed that impairment of the central executive depended on frontal and posterior lesion. Cognitive dysexecutive disorders were observed in 11/20 patients with central executive deficit and an inverse dissociation was observed in two patients. Receiver operating characteristic curve analysis indicated that cognitive dysexecutive disorders had the highest ability to discriminate frontal lesions (area under curve=0.844, 95% confidence interval: 0.74-0.95; P=0.0001; central executive impairment: area under curve=0.732, 95% confidence interval: 0.57-0.82; P=0.006). This study reveals that frontal lesions induce mild impairment of short-term memory associated with a deficit of the rehearsal process supporting the role of the frontal lobe in this process; the central executive depends on lesions in the frontal lobe and posterior regions accounting for its low frequency

  19. Rhabdomyolysis in a Young Girl with Van Wyk-Grumbach Syndrome due to Severe Hashimoto Thyroiditis

    Directory of Open Access Journals (Sweden)

    Alberto Leonardi

    2018-04-01

    Full Text Available Background: Autoimmune hypothyroidism (Hashimoto thyroiditis; HT is the most common postnatal thyroid disease. Clinical manifestations of HT vary according to disease severity. Due to the pleiotropic effects of thyroid hormone, less common signs and symptoms of HT can occur, leading to a delay in diagnosis. Case presentation: A 9-year-old girl of Indian origin was admitted for a one-week history of widespread myalgia, fatigue, muscle weakness, difficulty walking, and a significant increase in weight (approximately 2 kg without any changes in daily habits. The only relevant medical history was several intermittent vaginal bleeding episodes since four years of age. Breast development was consistent with Tanner stage 2 without pubic or axillary hair; while height and weight were at the 10th percentile and the 38th percentile; respectively. Bone age from a left wrist X-ray was delayed 1 year. Pelvic ultrasonography revealed a uterine body/neck ratio of >1 (pubertal stage and multifollicular ovaries. Her external genitalia had a childlike appearance. Laboratory examinations showed an increased thyroid-stimulating hormone, decreased free thyroxine, and positive anti-thyroglobulin antibody titres, as well as elevation of creatine phosphokinase, myoglobin, lactate dehydrogenase, serum aspartate aminotransferase, hypercholesterolemia, and a basal serum prolactin near the upper limit of normal. Follicle stimulating hormone and estradiol were slightly and significantly elevated, respectively. Thyroid ultrasound showed an increased gland size with irregular echostructures and high vascularization. Levothyroxine replacement therapy led to complete normalization of clinical and laboratory findings, including rhabdomyolysis indices. No further vaginal bleeding episodes were reported. Conclusion: This case report highlights how various can be the clinical picture of HT in children, and how rare clinical manifestations can be the only signs of disease at

  20. Rhabdomyolysis in a Young Girl with Van Wyk-Grumbach Syndrome due to Severe Hashimoto Thyroiditis.

    Science.gov (United States)

    Leonardi, Alberto; Penta, Laura; Cofini, Marta; Lanciotti, Lucia; Principi, Nicola; Esposito, Susanna

    2018-04-09

    Background: Autoimmune hypothyroidism (Hashimoto thyroiditis; HT) is the most common postnatal thyroid disease. Clinical manifestations of HT vary according to disease severity. Due to the pleiotropic effects of thyroid hormone, less common signs and symptoms of HT can occur, leading to a delay in diagnosis. Case presentation: A 9-year-old girl of Indian origin was admitted for a one-week history of widespread myalgia, fatigue, muscle weakness, difficulty walking, and a significant increase in weight (approximately 2 kg) without any changes in daily habits. The only relevant medical history was several intermittent vaginal bleeding episodes since four years of age. Breast development was consistent with Tanner stage 2 without pubic or axillary hair; while height and weight were at the 10th percentile and the 38th percentile; respectively. Bone age from a left wrist X-ray was delayed 1 year. Pelvic ultrasonography revealed a uterine body/neck ratio of >1 (pubertal stage) and multifollicular ovaries. Her external genitalia had a childlike appearance. Laboratory examinations showed an increased thyroid-stimulating hormone, decreased free thyroxine, and positive anti-thyroglobulin antibody titres, as well as elevation of creatine phosphokinase, myoglobin, lactate dehydrogenase, serum aspartate aminotransferase, hypercholesterolemia, and a basal serum prolactin near the upper limit of normal. Follicle stimulating hormone and estradiol were slightly and significantly elevated, respectively. Thyroid ultrasound showed an increased gland size with irregular echostructures and high vascularization. Levothyroxine replacement therapy led to complete normalization of clinical and laboratory findings, including rhabdomyolysis indices. No further vaginal bleeding episodes were reported. Conclusion: This case report highlights how various can be the clinical picture of HT in children, and how rare clinical manifestations can be the only signs of disease at presentation leading to

  1. A case of osteomalacia due to deranged mineral balance caused by saccharated ferric oxide and short-bowel syndrome

    Science.gov (United States)

    Nomoto, Hiroshi; Miyoshi, Hideaki; Nakamura, Akinobu; Nagai, So; Kitao, Naoyuki; Shimizu, Chikara; Atsumi, Tatsuya

    2017-01-01

    Abstract Rationale: Saccharated ferric oxide has been shown to lead to elevation of fibroblast growth factor 23, hypophosphatemia, and, consequently, osteomalacia. Moreover, mineral imbalance is often observed in patients with short-bowel syndrome to some degree. Patient concerns: A 62-year-old woman with short-bowel syndrome related with multiple resections of small intestines due to Crohn disease received regular intravenous administration of saccharated ferric oxide. Over the course of treatment, she was diagnosed with tetany, which was attributed to hypocalcemia. Additional assessments of the patient revealed not only hypocalcemia, but also hypophosphatemia, hypomagnesemia, osteomalacia, and a high concentration of fibroblast growth factor 23 (314 pg/mL). Diagnoses: We diagnosed her with mineral imbalance-induced osteomalacia due to saccharated ferric oxide and short-bowel syndrome. Interventions: Magnesium replacement therapy and discontinuation of saccharated ferric oxide alone. Outcomes: These treatments were able to normalize her serum mineral levels and increase her bone mineral density. Lessons: This case suggests that adequate evaluation of serum minerals, including phosphate and magnesium, during saccharated ferric oxide administration may be necessary, especially in patients with short-bowel syndrome. PMID:28953654

  2. Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.

    Science.gov (United States)

    Martín-Hernández, Elena; García-Silva, María Teresa; Quijada-Fraile, Pilar; Rodríguez-García, María Elena; Rivera, Henry; Hernández-Laín, Aurelio; Coca-Robinot, David; Fernández-Toral, Joaquín; Arenas, Joaquín; Martín, Miguel A; Martínez-Azorín, Francisco

    2017-01-01

    Whole-exome sequencing was used to identify the disease gene(s) in a Spanish girl with failure to thrive, muscle weakness, mild facial weakness, elevated creatine kinase, deficiency of mitochondrial complex III and depletion of mtDNA. With whole-exome sequencing data, it was possible to get the whole mtDNA sequencing and discard any pathogenic variant in this genome. The analysis of whole exome uncovered a homozygous pathogenic mutation in thymidine kinase 2 gene ( TK2; NM_004614.4:c.323 C>T, p.T108M). TK2 mutations have been identified mainly in patients with the myopathic form of mtDNA depletion syndromes. This patient presents an atypical TK2-related myopathic form of mtDNA depletion syndromes, because despite having a very low content of mtDNA (TK2 gene in mtDNA depletion syndromes and expanded the phenotypic spectrum.

  3. Cortical correlates of affective syndrome in dementia due to Alzheimer’s disease

    Directory of Open Access Journals (Sweden)

    Thaís T. Hayata

    2015-07-01

    Full Text Available Neuropsychiatric symptoms in Alzheimer’s disease (AD are prevalent, however their relationship with patterns of cortical atrophy is not fully known. Objectives To compare cortical atrophy’s patterns between AD patients and healthy controls; to verify correlations between neuropsychiatric syndromes and cortical atrophy. Method 33 AD patients were examined by Neuropsychiatric Inventory (NPI. Patients and 29 controls underwent a 3T MRI scanning. We considered four NPI syndromes: affective, apathy, hyperactivity and psychosis. Correlations between structural imaging and neuropsychiatric scores were performed by Freesurfer. Results were significant with a p-value < 0.05, corrected for multiple comparisons. Results Patients exhibited atrophy in entorhinal cortices, left inferior and middle temporal gyri, and precuneus bilaterally. There was correlation between affective syndrome and cortical thickness in right frontal structures, insula and temporal pole. Conclusion Cortical thickness measures revealed atrophy in mild AD. Depression and anxiety symptoms were associated with atrophy of right frontal, temporal and insular cortices.

  4. Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.

    LENUS (Irish Health Repository)

    Foley, Patricia

    2012-02-01

    Rubinstein-Taybi syndrome (RSTS) is a heterogeneous disorder with approximately 45-55% of patients showing mutations in the CREB binding protein and a further 3% of patients having mutations in EP300. We report a male child with a deletion of exons 3-8 of the EP300 gene who has RSTS. He has a milder skeletal phenotype, a finding that has been described in other cases with EP300 mutations. The mother suffered from pre-eclampsia and HELLP syndrome in the pregnancy. She subsequently developed a mullerian tumor of her cervix 6 years after the birth of her son.

  5. Fanconi syndrome due to prolonged use of low-dose adefovir

    Directory of Open Access Journals (Sweden)

    Xiao-Bing Wang

    2015-01-01

    Full Text Available Fanconi syndrome results from a generalized abnormality of the proximal tubules of the kidney and owing to phosphate depletion can cause hypophosphatemic osteomalacia. Adefovir dipivoxyl (ADV effectively suppresses hepatitis B virus replication but exhibits nephrotoxicity when administered at a low dosage. We report two cases of Fanconi syndrome induced by ADV at 10 mg/day to call for regular screening for evidence of proximal tubular dysfunction and detailed bone metabolic investigations for prompt detection of ADV nephrotoxicity is critically important to ensure timely drug withdrawal before the development of irreversible tubulointerstitial injury.

  6. Biosynthesis of Various Steroids in vitro by Isolated Adrenal Cells in Primary Aldosteronism, Cushing's Syndrome, and Adrenogenital Syndrome due to Adrenocortical Adenoma

    OpenAIRE

    MIZUNO, SHIGERU; FUNAHASHI, HIROOMI

    1981-01-01

    To a further understanding of the role of steroid hormones in adrenal disorders, we have prepared free cell system of adrenal cells, using adrenal tissues that had been removed by operation from (i) cases of Cushing's syndrome due to adrenocortical adenoma or adrenocortical hyperplasia, (ii) a case of primary aldosteronism, and (iii) a patient with virilizing adrenal tumor. Twelve important steroid hormones were measured, such as pregnenolone, cortisol and aldosterone, which were produced by ...

  7. Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion

    DEFF Research Database (Denmark)

    Morisada, Naoya; Rendtorff, Nanna Dahl; Nozu, Kandai

    2010-01-01

    A 7-year-old Japanese girl with conductive deafness and preauricular fistulae developed proteinuria. She had renal insufficiency, and ultrasound revealed bilateral small kidneys. These findings indicated that she had branchio-oto-renal (BOR) syndrome. In the present patient, we identified, by usi...

  8. Surgical Treatment of Snapping Scapula Syndrome Due to Malunion of Rib Fractures.

    Science.gov (United States)

    Ten Duis, Kaj; IJpma, Frank F A

    2017-02-01

    This report describes a case of snapping scapula syndrome (SSS) caused by malunited rib fractures. Abrasion of the deformed ribs was performed with good results. SSS as a cause of shoulder pain after thoracic trauma has to be considered and can be treated by a surgical abrasion technique. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  9. ADULT RESPIRATORY-DISTRESS SYNDROME (ARDS) DUE TO BACTEREMIC PNEUMOCOCCAL PNEUMONIA

    NARCIS (Netherlands)

    MANNES, GPM; BOERSMA, WG; BAUR, CHJM; POSTMUS, PE

    We describe a patient, who had no pre-existing disease, with bacteraemic pneumococcal pneumonia and adult respiratory distress syndrome (ARDS), a rare complication. In spite of the use of antibiotics and intensive treatment the mortality rate of this kind of infection remains high. Streptococcus

  10. Spontaneous Thrombosis of a Bicuspid Aortic valve due to Primary Antiphospholipid Syndrome

    Directory of Open Access Journals (Sweden)

    Sarah Farrell

    2010-08-01

    Full Text Available We present the case of a 51-year-old man who was admitted as an emergency with spontaneous thrombosis of the aortic valve and ascending aorta. At operation he was found to have a congenitally bicuspid aortic valve and subsequent investigation revealed primary antiphospholipid syndrome. He underwent successful removal of the thrombus combined with mechanical replacement of the aortic valve.

  11. Physical and Psychological Health in Persons with Deafblindness that Is due to Usher Syndrome Type II

    Science.gov (United States)

    Wahlqvist, Moa; Moller, Claes; Moller, Kerstin; Danermark, Berth

    2013-01-01

    Introduction: The objectives of the study reported here were to describe the physical and psychological health of persons with Usher syndrome Type II (USH2) and to explore any differences in terms of gender. Methods: The participants were recruited from the Swedish Usher database. In the first step, 122 persons received the questionnaire by mail,…

  12. Myocardial ischemia due to compression of an unruptured thoracic aortic aneurysm in a patient with Marfan syndrome.

    Science.gov (United States)

    Minami, Hiroya; Asada, Tatsuro; Gan, Kunio; Abe, Koichiro; Izumi, Satoshi

    2007-06-01

    We report a 33-year-old woman who had a 60-mm thoracic aneurysm of the ascending aorta with Marfan syndrome and effort angina due to compression of the right coronary artery (RCA) by the aneurysm. Surgery was performed using the Bentall procedure and a coronary artery bypass graft to the RCA. Postoperatively, coronary angiography showed that the coronary flow of the RCA was restored by removing the aneurysmal compression. The patient was discharged without angina on postoperative day 21.

  13. The clinical phenotype of Lynch syndrome due to germline PMS2 mutations

    Science.gov (United States)

    Senter, Leigha; Clendenning, Mark; Sotamaa, Kaisa; Hampel, Heather; Green, Jane; Potter, John D.; Lindblom, Annika; Lagerstedt, Kristina; Thibodeau, Stephen N.; Lindor, Noralane M.; Young, Joanne; Winship, Ingrid; Dowty, James G.; White, Darren M.; Hopper, John L.; Baglietto, Laura; Jenkins, Mark A.; de la Chapelle, Albert

    2009-01-01

    Background and Aims Although the clinical phenotype of Lynch syndrome (also known as Hereditary Nonpolyposis Colorectal Cancer) has been well described, little is known about disease in PMS2 mutation carriers. Now that mutation detection methods can discern mutations in PMS2 from mutations in its pseudogenes, more mutation carriers have been identified. Information about the clinical significance of PMS2 mutations is crucial for appropriate counseling. Here, we report the clinical characteristics of a large series of PMS2 mutation carriers. Methods We performed PMS2 mutation analysis using long range PCR and MLPA for 99 probands diagnosed with Lynch syndrome-associated tumors showing isolated loss of PMS2 by immunohistochemistry. Penetrance was calculated using a modified segregation analysis adjusting for ascertainment. Results Germline PMS2 mutations were detected in 62% of probands (n = 55 monoallelic; 6 biallelic). Among families with monoallelic PMS2 mutations, 65.5% met revised Bethesda guidelines. Compared with the general population, in mutation carriers, the incidence of colorectal cancer was 5.2 fold higher and the incidence of endometrial cancer was 7.5 fold higher. In North America, this translates to a cumulative cancer risk to age 70 of 15–20% for colorectal cancer, 15% for endometrial cancer, and 25–32% for any Lynch syndrome-associated cancer. No elevated risk for non-Lynch syndrome-associated cancers was observed. Conclusions PMS2 mutations contribute significantly to Lynch syndrome but the penetrance for monoallelic mutation carriers appears to be lower than that for the other mismatch repair genes. Modified counseling and cancer surveillance guidelines for PMS2 mutation carriers are proposed. PMID:18602922

  14. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.

    Science.gov (United States)

    Senter, Leigha; Clendenning, Mark; Sotamaa, Kaisa; Hampel, Heather; Green, Jane; Potter, John D; Lindblom, Annika; Lagerstedt, Kristina; Thibodeau, Stephen N; Lindor, Noralane M; Young, Joanne; Winship, Ingrid; Dowty, James G; White, Darren M; Hopper, John L; Baglietto, Laura; Jenkins, Mark A; de la Chapelle, Albert

    2008-08-01

    Although the clinical phenotype of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer) has been well described, little is known about disease in PMS2 mutation carriers. Now that mutation detection methods can discern mutations in PMS2 from mutations in its pseudogenes, more mutation carriers have been identified. Information about the clinical significance of PMS2 mutations is crucial for appropriate counseling. Here, we report the clinical characteristics of a large series of PMS2 mutation carriers. We performed PMS2 mutation analysis using long-range polymerase chain reaction and multiplex ligation-dependent probe amplification for 99 probands diagnosed with Lynch syndrome-associated tumors showing isolated loss of PMS2 by immunohistochemistry. Penetrance was calculated using a modified segregation analysis adjusting for ascertainment. Germ-line PMS2 mutations were detected in 62% of probands (n = 55 monoallelic; 6 biallelic). Among families with monoallelic PMS2 mutations, 65.5% met revised Bethesda guidelines. Compared with the general population, in mutation carriers, the incidence of colorectal cancer was 5.2-fold higher, and the incidence of endometrial cancer was 7.5-fold higher. In North America, this translates to a cumulative cancer risk to age 70 years of 15%-20% for colorectal cancer, 15% for endometrial cancer, and 25%-32% for any Lynch syndrome-associated cancer. No elevated risk for non-Lynch syndrome-associated cancers was observed. PMS2 mutations contribute significantly to Lynch syndrome, but the penetrance for monoallelic mutation carriers appears to be lower than that for the other mismatch repair genes. Modified counseling and cancer surveillance guidelines for PMS2 mutation carriers are proposed.

  15. Pyogenic liver abscess and peritonitis due to Rhizopus oryzae in a child with Papillon-Lefevre syndrome.

    Science.gov (United States)

    Dalgic, Buket; Bukulmez, Aysegul; Sari, Sinan

    2011-06-01

    Papillon-Lefevre syndrome (PLS) is an autosomal recessive disease that is characterized by symmetric palmoplantar keratodermatitis and severe periodontal destruction. Mutations in the cathepsin C gene (CTSC) have recently been detected in PLS. Immune dysregulation, due to a mutation in CTSC, increases the risk of pyogenic infections in PLS patients. A child with PLS is presented here with liver abscesses and peritonitis caused by Rhizopus oryzae. His liver abscess and peritonitis were cured with amphotericin B without surgical care. This is the first case in the literature liver abscess due to Rhizopus oryzae in a child with PLS.

  16. Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.

    Science.gov (United States)

    Becirovic, Elvir; Ebermann, Inga; Nagy, Ditta; Zrenner, Eberhart; Seeliger, Mathias Wolfgang; Bolz, Hanno Jörn

    2008-03-01

    Usher syndrome (USH) is an autosomal recessive condition characterized by sensorineural hearing loss, vestibular dysfunction, and visual impairment due to retinitis pigmentosa. Truncating mutations in the cadherin-23 gene (CDH23) result in Usher syndrome type 1D (USH1D), whereas missense mutations affecting strongly conserved motifs of the CDH23 protein cause non-syndromic deafness (DFNB12). Four missense mutations constitute an exception from this genotype-phenotype correlation: they have been described in USH1 patients in homozygous state. Using a minigene assay, we have investigated these changes (c.1450G>C, p.A484P; c.3625A>G, p.T1209A; c.4520G>A, p.R1507Q; and c.5237G>A, p.R1746Q) for a possible impact on mRNA splicing which could explain the syndromic phenotype. While in silico analysis suggested impairment of splicing in all four cases, we found aberrant splicing for only one mutation, p.R1746Q. However, splicing was normal in case of p.A484P, p.T1209A and p.R1507Q. These three latter CDH23 missense mutations could interfere with functions of both, the auditory and the visual system. Alternatively, they could represent rare non-pathogenic polymorphisms.

  17. Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C.

    Science.gov (United States)

    Choi, Keun Hee; Shin, Choong Ho; Yang, Sei Won; Cheong, Hae Il

    2015-04-01

    The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney. They can also cause a type 5 Bartter syndrome by inhibiting the apical potassium channel in the thick ascending limb of the loop of Henle in the kidney. This study presents a patient who had autosomal dominant hypocalcemia with Bartter syndrome due to an activating mutation Y829C in the transmembrane domain of the CaSR. Symptoms of hypocalcemia occurred 12 days after birth and medication was started immediately. Medullary nephrocalcinosis and basal ganglia calcification were found at 7 years old and at 17 years old. Three hypercalcemic episodes occurred, one at 14 years old and two at 17 years old. The Bartter syndrome was not severe while the serum calcium concentration was controlled, but during hypercalcemic periods, the symptoms of Bartter syndrome were aggravated.

  18. A Turkish family with Nance-Horan Syndrome due to a novel mutation.

    Science.gov (United States)

    Tug, Esra; Dilek, Nihal F; Javadiyan, Shahrbanou; Burdon, Kathryn P; Percin, Ferda E

    2013-08-01

    Nance-Horan Syndrome (NHS) is a rare X-linked syndrome characterized by congenital cataract which leads to profound vision loss, characteristic dysmorphic features and specific dental anomalies. Microcornea, microphthalmia and mild or moderate mental retardation may accompany these features. Heterozygous females often manifest similarly but with less severe features than affected males. We describe two brothers who have the NHS phenotype and their carrier mother who had microcornea but not cataract. We identified a previously unreported frameshift mutation (c.558insA) in exon 1 of the NHS gene in these patients and their mother which is predicted to result in the incorporation of 11 aberrant amino acids prior to a stop codon (p.E186Efs11X). We also discussed genotype-phenotype correlation according to relevant literature. Copyright © 2013 Elsevier B.V. All rights reserved.

  19. Hereditary mixed polyposis syndrome due to a BMPR1A mutation.

    LENUS (Irish Health Repository)

    O'Riordan, J M

    2010-06-01

    The conditions Juvenile Polyposis Syndrome (JPS) and Hereditary Mixed Polyposis Syndrome (HMPS) are associated with an increased risk of colorectal carcinoma. The genetic mechanisms which explain these conditions have until recently been poorly understood. Recent interest has focused on the transforming growth factor (TGF)-beta signalling pathway and, in particular, on mutations in the SMAD4 gene. However, not all cases of JPS and HMPS have mutations in SMAD4 and focus has now shifted to other components of the TGF-beta pathway to clarify the genetic mechanisms involved in these conditions. In this report, we describe the significance of a bone morphogenetic protein receptor type 1A gene mutation in an Irish family.

  20. Neuropathic ocular pain due to dry eye is associated with multiple comorbid chronic pain syndromes

    Science.gov (United States)

    Galor, Anat; Covington, Derek; Levitt, Alexandra E.; McManus, Katherine T.; Seiden, Benjamin; Felix, Elizabeth R.; Kalangara, Jerry; Feuer, William; Patin, Dennis J.; Martin, Eden R.; Sarantopoulos, Konstantinos D.; Levitt, Roy C.

    2015-01-01

    Recent data demonstrate that dry eye (DE) susceptibility and other chronic pain syndromes (CPS) such as chronic widespread pain, irritable bowel syndrome and pelvic pain, may share common heritable factors. Previously, we showed that DE patients describing more severe symptoms tended to report features of neuropathic ocular pain (NOP). We hypothesize that patients with a greater number of CPS would have a different DE phenotype compared to those with fewer CPS. We recruited a cohort of 154 DE patients from the Miami Veterans Affairs Hospital and defined high and low CPS groups by cluster analysis. In addition to worse non-ocular pain complaints and higher PTSD and depression scores (Ppain assessed via 3 different pain scales (Ppain disorder, and that shared mechanistic factors may underlie vulnerability to some forms of DE and other comorbid CPS. PMID:26606863

  1. Cauda Equina Syndrome Due to Lumbar Disc Herniation: a Review of Literature

    Directory of Open Access Journals (Sweden)

    Kapetanakis Stylianos

    2017-12-01

    Full Text Available Cauda equina syndrome (CES is a rare neurologic condition that is caused by compression of the cauda equina. Cauda equina consists of spinal nerves L2-L5, S1-S5 and the coccygeal nerve. The compression of these nerve roots can be caused mainly by lumbar disc herniation (45% of all causes. The diagnosis consists of two critical points: a detailed history and physical examination and b MRI or CT. The gold standard of the treatment of this syndrome is the surgical approach in combination with the timing of onset of symptoms. The surgery as an emergency situation is recommended in the fi rst 48 hours of onset of symptoms. Any delay in diagnosis and treatment leads to a poor prognosis of CES.

  2. Cauda Equina Syndrome Due to Lumbar Disc Herniation: a Review of Literature.

    Science.gov (United States)

    Kapetanakis, Stylianos; Chaniotakis, Constantinos; Kazakos, Constantinos; Papathanasiou, Jannis V

    2017-12-20

    Cauda equina syndrome (CES) is a rare neurologic condition that is caused by compression of the cauda equina. Cauda equina consists of spinal nerves L2-L5, S1-S5 and the coccygeal nerve. The compression of these nerve roots can be caused mainly by lumbar disc herniation (45% of all causes). The diagnosis consists of two critical points: a) detailed history and physical examination and b) MRI or CT. The gold standard of the treatment of this syndrome is the surgical approach in combination with the timing of onset of symptoms. The surgery as an emergency situation is recommended in the fi rst 48 hours of onset of symptoms. Any delay in diagnosis and treatment leads to a poor prognosis of CES.

  3. Immune reconstitution syndrome in a human immunodeficiency virus infected child due to giardiasis leading to shock

    Directory of Open Access Journals (Sweden)

    Sneha Nandy

    2015-01-01

    Full Text Available Human immunodeficiency virus (HIV-associated immune reconstitution inflammatory syndrome has been reported in association with tuberculosis, herpes zoster (shingles, Cryptococcus neoformans, Kaposi′s sarcoma, Pneumocystis pneumonia, hepatitis B virus, hepatitis C virus, herpes simplex virus, Histoplasma capsulatum, human papillomavirus, and Cytomegalovirus. However, it has never been documented with giardiasis. We present a 7-year-old HIV infected girl who developed diarrhea and shock following the initiation of antiretroviral therapy, and her stool showed the presence of giardiasis.

  4. Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis

    OpenAIRE

    Besouw, M.; Cornelissen, E.; Cassiman, D.; Kluijtmans, L.; van den Heuvel, L.; Levtchenko, E.

    2014-01-01

    Background: Cystinosis is an autosomal recessive disorder marked by intralysosomal cystine accumulation. Patients present with generalized proximal tubular dysfunction called renal Fanconi syndrome. Urinary carnitine loss results in plasma and muscle carnitine deficiency, but no clinical signs of carnitine deficiency have been described. Also, the optimal dose of carnitine supplementation is undefined. This study aimed to determine whether currently recommended carnitine doses result in adequ...

  5. The role of nasal CPAP in obstructive sleep apnoea syndrome due to mandibular hypoplasia.

    LENUS (Irish Health Repository)

    Miller, Stanley D W

    2012-02-01

    Melnick Needles syndrome (MNS), Treacher Collins syndrome (TCS) and Pierre Robin syndrome (PRS) are congenital abnormalities with characteristic facial appearances that include micrognathia. A 20-year-old girl with MNS, a 16-year-old boy with TCS and a 12-year-old girl with PRS attended the sleep apnoea clinic at our institution at different times. Diagnostic sleep studies were initially performed on all three patients to confirm the diagnosis of obstructive sleep apnoea syndrome (OSAS). They subsequently commenced nasal CPAP (nCPAP) treatment and their progress was followed. A limited sleep study on the patient with MNS demonstrated moderate\\/severe OSAS with an AHI of 33 events\\/h. Commencement of nCPAP resulted in symptomatic improvement. Overnight oximetry in the patient with TCS showed repeated desaturation to SpO2<90%. Subsequent treatment by nCPAP almost completely abolished the desaturation events. Overnight polysomnography in the patient with PRS demonstrated severe OSAS with an AHI of 49 events\\/h. After 3 years of nCPAP therapy, this patient requested discontinuation of treatment. Subsequent polysomnography without nCPAP revealed an AHI of <5 events\\/h. The use of nCPAP in the patients with MNS and TCS resulted in effective control of their sleep abnormalities. Mandibular growth and enlargement of the posterior airway space led to resolution of OSAS in the patient with PRS. There is a definite role for nCPAP therapy in patients with congenital micrognathia and OSAS. The use of nCPAP may obviate the need for more invasive corrective surgery for OSAS and is not necessarily a life-long requirement.

  6. Acute intraparenchymal spinal cord injury in a cat due to high-rise syndrome.

    Science.gov (United States)

    Cruz-Arámbulo, Robert; Nykamp, Stephanie

    2012-03-01

    A 9-year-old spayed female Bengal Red cat was evaluated for high-rise syndrome. The cat had paraplegia of the hind limbs, intact reflexes and pain perception, and hyperesthesia in the caudal thoracic area. Mentation, cranial nerve function, forelimb proprioceptive responses, and spinal reflexes were normal. There were no abnormalities on radiographs or computed tomography scan, but magnetic resonance imaging revealed a hyperintense intraparenchymal spinal cord lesion on T2-weighted and T2 fat saturation images.

  7. Acute intraparenchymal spinal cord injury in a cat due to high-rise syndrome

    OpenAIRE

    Cruz–Arámbulo, Robert; Nykamp, Stephanie

    2012-01-01

    A 9-year-old spayed female Bengal Red cat was evaluated for high-rise syndrome. The cat had paraplegia of the hind limbs, intact reflexes and pain perception, and hyperesthesia in the caudal thoracic area. Mentation, cranial nerve function, forelimb proprioceptive responses, and spinal reflexes were normal. There were no abnormalities on radiographs or computed tomography scan, but magnetic resonance imaging revealed a hyperintense intraparenchymal spinal cord lesion on T2-weighted and T2 fat...

  8. A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in Gene

    Directory of Open Access Journals (Sweden)

    Venkatraman Thulasi BA

    2017-08-01

    Full Text Available Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively. The authors describe the clinical course of a 6-year-old girl with Brown-Vialetto-Van Laere syndrome and a novel homozygous mutation c.1156T>C in the SLC52A3 gene, who presented at the age of 2.5 years with progressive brain stem dysfunction including ptosis, facial weakness, hearing loss, dysphagia, anarthria with bilateral vocal cord paralysis, and ataxic gait. She subsequently developed respiratory failure requiring tracheostomy and worsening dysphagia necessitating a gastrostomy. Following riboflavin supplementation, resolution of facial diplegia and ataxia, improvements in ptosis, and bulbar function including vocalization and respiration were noted. However, her sensorineural hearing loss remained unchanged. Similar to other cases of Brown-Vialetto-Van Laere syndrome, our patient responded favorably to early riboflavin supplementation with significant but not complete neurologic recovery.

  9. A case of stiff-person syndrome due to secondary adrenal insufficiency.

    Science.gov (United States)

    Mizuno, Yuri; Yamaguchi, Hiroo; Uehara, Taira; Yamashita, Kenichiro; Yamasaki, Ryo; Kira, Jun-Ichi

    2017-06-28

    We report a case of flexion contractures in a patient's legs secondary to postpartum hypopituitarism. A 56-year-old woman presented with a 3-year history of worsening flexion contractures of the hips and knees. On admission, her hips and knees could not be extended, and she had muscle stiffness and tenderness to palpation of the lower extremities. We first suspected stiff-person syndrome or Isaacs' syndrome because of her muscle stiffness. However, multiple hormones did not respond to stimulation tests, and an MRI of the brain showed atrophy of the pituitary gland with an empty sella. A subsequent interview revealed that she had suffered a severe hemorrhage while delivering her third child. She was diagnosed with panhypopituitarism and started on cortisol replacement therapy. After 1 week of treatment with hydrocortisone (10 mg/day), her symptoms quickly improved. We then added 75 μg/day of thyroid hormone. During the course of her treatment, autoantibodies against VGKC complex were found to be weakly positive. However, we considered the antibodies to be unrelated to her disease, because her symptoms improved markedly with low-dose steroid treatment. There are a few reports describing flexion contractures of the legs in patients with primary and secondary adrenal insufficiency. As these symptoms are similar to those seen in stiff-person syndrome, adrenal and pituitary insufficiency should be taken into account to achieve the correct diagnosis and treatment in patients with flexion contractures and muscle stiffness.

  10. Novas opções terapêuticas na síndrome de aspiração de mecônio New therapeutic options in meconium aspiration syndrome

    Directory of Open Access Journals (Sweden)

    Mauricio Obal Colvero

    2006-01-01

    Full Text Available OBJETIVOS: revisar a literatura sobre a síndrome de aspiração de mecônio (SAM, enfocando aspectos clínicos, fisiopatológicos e abordagem terapêutica, com destaque ao uso do surfactante e lavado broncoalveolar. MÉTODOS: revisão baseada em artigos publicados na MEDLINE, SCIELO e resumos de congressos internacionais de 1988 a 2004, incluindo ensaios randomizados ou quasi-randomizados, estudos caso-controle e metanálises. RESULTADOS: devido à comprovação da inibição do surfactante na SAM, houve modificações em sua abordagem terapêutica. O manejo atual consiste na aspiração das vias aéreas na sala de parto, seguida de suporte ventilatório necessário para manter a oxigenação arterial adequada, e tratamento das complicações. Tendo em vista a obstrução mecânica do mecônio e seu efeito inibitório sobre o surfactante, a reposição e lavado broncoalveolar com surfactante estão sendo estudados atualmente. CONCLUSÕES: estudos em animais e em recém-nascidos apresentam resultados controversos quanto aos benefícios do uso de surfactante e lavado broncoalveolar na SAM. Torna-se importante a realização de mais estudos para avaliar novas estratégias ventilatórias e se existem vantagens no uso do surfactante e lavado broncoalveolar com surfactante na SAM.OBJECTIVES: to review the literature on meconium aspiration syndrome (MAS focusing on clinical aspects, pathophysiology, and treatment with emphasis on surfactant and bronchoalveolar lavage. METHODS: review including articles from MEDLINE, SCIELO and abstracts published in the national and international literature, from 1988 to 2004 using the keywords meconium aspiration syndrome, surfactant and bronchoalveolar lavage. Randomized and quasi-randomized trials, case control studies, meta-analyses and recently published reviews were selected. Other articles were included for their valuable contribution to the subject. RESULTS: the discovery of new pathophysiological mechanisms

  11. Small intestine aspirate and culture

    Science.gov (United States)

    ... ency/article/003731.htm Small intestine aspirate and culture To use the sharing features on this page, please enable JavaScript. Small intestine aspirate and culture is a lab test to check for infection ...

  12. Color vision abnormality as the sole manifestation of posterior reversible encephalopathy due to post-partum HELLP syndrome.

    Science.gov (United States)

    Takahashi, Hironori; Matsubara, Teppei; Makino, Shinji; Horie, Kenji; Matsubara, Shigeki

    2017-03-01

    Posterior reversible encephalopathy syndrome (PRES) is associated with several symptoms; of those, visual acuity loss, light oversensitivity (photophobia), and light flashes (photopsia) are known as PRES-related eye symptoms. We report a post-partum woman with PRES associated with hemolysis, elevated liver enzymes, and low platelets syndrome (HELLP), in whom color vision abnormality (achromatopsia) was the sole manifestation. Cesarean section was performed at 28 weeks due to headache, epigastralgia, and severe hypertension. HELLP became evident after delivery. On post-partum day 1, she complained of achromatopsia, stating: "all things look brownish-gray". Ophthalmologic examination was normal, but brain magnetic resonance imaging showed occipital lobe lesions, indicative of PRES, and, interestingly, also color vision center (area V4) lesions, suggesting that the achromatopsia had been caused by brain damage. It may be prudent to question HELLP patients concerning achromatopsia. © 2017 Japan Society of Obstetrics and Gynecology.

  13. Chronic Localized Back Pain Due to Posterior Cutaneous Nerve Entrapment Syndrome (POCNES): A New Diagnosis.

    Science.gov (United States)

    Boelens, Oliver B; Maatman, Robert C; Scheltinga, Marc R; van Laarhoven, Kees; Roumen, Rudi M

    2017-03-01

    Most patients with chronic back pain suffer from degenerative thoracolumbovertebral disease. However, the following case illustrates that a localized peripheral nerve entrapment must be considered in the differential diagnosis of chronic back pain. We report the case of a 26-year-old woman with continuous excruciating pain in the lower back area. Previous treatment for nephroptosis was to no avail. On physical examination the pain was present in a 2 x 2 cm area overlying the twelfth rib some 4 cm lateral to the spinal process. Somatosensory testing using swab and alcohol gauze demonstrated the presence of skin hypo- and dysesthesia over the painful area. Local pressure on this painful spot elicited an extreme pain response that did not irradiate towards the periphery. These findings were highly suggestive of a posterior version of the anterior cutaneous nerve entrapment syndrome (ACNES), a condition leading to a severe localized neuropathic pain in anterior portions of the abdominal wall. She demonstrated a beneficial albeit temporary response after lidocaine infiltration as dictated by an established diagnostic and treatment protocol for ACNES. She subsequently underwent a local neurectomy of the involved superficial branch of the intercostal nerve. This limited operation had a favorable outcome resulting in a pain-free return to normal activities up to this very day (follow-up of 24 months).We propose to name this novel syndrome "posterior cutaneous nerve entrapment syndrome" (POCNES). Each patient with chronic localized back pain should undergo simple somatosensory testing to detect the presence of overlying skin hypo- and dysesthesia possibly reflecting an entrapped posterior cutaneous nerve.Key words: Chronic pain, back pain, posterior cutaneous nerve entrapment, peripheral nerve entrapment, surgical treatment for pain, anterior cutaneous nerve entrapment.

  14. Thoracic Outlet Syndrome in a Volleyball Player Due to Nonunion of the First Rib Fracture.

    Science.gov (United States)

    Puttmann, Kathleen T; Satiani, Bhagwan; Vaccaro, Patrick

    2016-11-01

    Fracture of the first rib with ensuing callus formation is a rare cause of thoracic outlet syndrome. We report a case of a 17-year-old female volleyball player who presented with months of chronic arm pain. Radiographic imaging demonstrated nonunion fracture of the first rib. Physical therapy had been unsuccessful in relieving the pain, and surgical management was performed with resection of the first rib through a transaxillary approach with complete resolution of symptoms. Inflammation surrounding such fractures may destroy tissue planes, making dissection more technically difficult.

  15. Intracranial hemorrhage due to intracranial hypertension caused by the superior vena cava syndrome

    DEFF Research Database (Denmark)

    Bartek, Jiri; Abedi-Valugerdi, Golbarg; Liska, Jan

    2013-01-01

    We report a patient with intracranial hemorrhage secondary to venous hypertension as a result of a giant aortic pseudoaneurysm that compressed the superior vena cava and caused obstruction of the venous return from the brain. To our knowledge, this is the first patient reported to have...... an intracranial hemorrhage secondary to a superior vena cava syndrome. The condition appears to be caused by a reversible transient rise in intracranial pressure, as a result of compression of the venous return from the brain. Treatment consisted of surgery for the aortic pseudoaneurysm, which led...

  16. The changing landscape of Lynch syndrome due to PMS2 mutations.

    Science.gov (United States)

    Blount, J; Prakash, A

    2018-07-01

    DNA repair pathways are essential for cellular survival as our DNA is constantly under assault from both exogenous and endogenous DNA damaging agents. Five major mammalian DNA repair pathways exist within a cell to maintain genomic integrity. Of these, the DNA mismatch repair (MMR) pathway is highly conserved among species and is well documented in bacteria. In humans, the importance of MMR is underscored by the discovery that a single mutation in any 1 of 4 genes within the MMR pathway (MLH1, MSH2, MSH6 and PMS2) results in Lynch syndrome (LS). LS is a autosomal dominant condition that predisposes individuals to a higher incidence of many malignancies including colorectal, endometrial, ovarian, and gastric cancers. In this review, we discuss the role of PMS2 in the MMR pathway, the evolving testing criteria used to identify variants in the PMS2 gene, the LS phenotype as well as the autosomal recessive condition called constitutional mismatch repair deficiency syndrome, and current methods used to elucidate the clinical impact of PMS2 mutations. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. Burning Mouth Syndrome due to Television Moans, an Enigma for Oral Physician: Treatment with Counseling

    Science.gov (United States)

    Gupta, Deepak; Sheikh, Soheyl; Pallagatti, Shambulingappa; Kasariya, Kartikaya; Buttan, Amit; Gupta, Maqul

    2014-01-01

    Burning mouth syndrome (BMS) is a relatively common disease that can severely affect the quality of life of the patient. It causes chronic orofacial pain or oral burning sensation even in the absence of any detectable organic cause. The etiology of BMS is complex and multifactorial. It has been associated with menopause, trigger events and even genetic polymorphisms. Although its etiology remains unclear, there is still much evidence that psychological elements like stress, anxiety or depression do play a significant role. There are several studies in the literature which only report the association of BMS with psychological factors. But to the best of our knowledge, there is no such case reported in the literature which has actually highlighted the management of such a case with psychogenic elements involved. In this case report, apart from discussing the role of psychological factors, the treatment of BMS with emphasis on counseling is also emphasized. Further, it is of interest to know that such patients with psychologically induced burning mouth syndrome have to be evaluated to their deepest details. Even their commonly overlooked gestures and habits like watching a particular television soap opera may be involved in their disease process. It can be concluded that psychological counseling in general dental practice can provide an effective cure for chronic oral burning sensation with psychological factors involved. PMID:25093058

  18. Superior Mesenteric Artery Syndrome due to a Vertebral Hemangioma and Postpartum Osteoporosis following Treatment

    Directory of Open Access Journals (Sweden)

    Mehmet Elmadag

    2015-01-01

    Full Text Available In pregnancy, advanced vertebral hemangiomas may be seen, and these require treatment. The case reported here is of a 35-year-old female in the 32nd week of pregnancy who was admitted to the orthopaedics clinic with a history of backache and difficulty walking. A burst fracture of L1 associated with a vertebral hemangioma was identified with an L3 compression fracture secondary to osteoporosis. The local kyphosis angle between T12 and L2 was 27°. Kyphotic deformity was corrected and postoperatively, the measured T12–L2 local kyphotic angle was 9°. Twelve hours postoperatively, oral nutrition was allowed, but she developed nausea and vomiting and twenty-four hours postoperatively, an electrolyte imbalance developed. Postoperatively, the patient was diagnosed with superior mesenteric artery syndrome. To the best of our knowledge, this is the first reported case of superior mesenteric artery syndrome, which occurred following the correction of a kyphotic deformity that had developed secondary to an advanced hemangioma in pregnancy.

  19. Hypertensive crisis in pregnancy due to a metamorphosing pheochromocytoma with postdelivery Cushing's syndrome.

    Science.gov (United States)

    Langton, Katharina; Gruber, Matthias; Masjkur, Jimmy; Steenblock, Charlotte; Peitzsch, Mirko; Meinel, Jörn; Lenders, Jacques; Bornstein, Stefan; Eisenhofer, Graeme

    2018-01-01

    Pheochromocytomas in pregnancy are rare but potentially lethal. Even rarer is the combination of pheochromocytoma in pregnancy with subsequent development of ectopic Cushing's syndrome. We report a 36-year-old woman, previously diagnosed with essential hypertension, who developed severe hypertension in pregnancy complicated by insulin-dependent gestational diabetes. A cesarean section was performed at 32 weeks following a hypertensive crisis after routine administration of betamethasone. Postnatal persistence of signs and symptoms of catecholamine excess led to the diagnosis of a left adrenal pheochromocytoma. Between diagnosis and planned tumor removal, the patient developed signs and symptoms of Cushing's syndrome (facial edema and hirsutism, myopathy and fatigue). Biochemical testing confirmed hypercortisolism with extremely elevated levels of plasma adrenocorticotropin, urinary cortisol and multiple steroids of a plasma panel that were all normal at previous testing. The previously noradrenergic tumor also started producing epinephrine. Histopathological examination confirmed the pheochromocytoma, which was also immunohistochemically positive for adrenocorticotropin. Full post-surgical recovery was sustained with normal blood pressure and biochemical findings after one year. This report not only underlines the chameleon behavior of pheochromocytoma but also illustrates its potential for a metamorphosing presentation. Corticosteroid administration in pregnancy requires a cautious approach in patients with hypertension.

  20. Burning Mouth Syndrome due to Television Moans, an Enigma for Oral Physician: Treatment with Counseling

    Directory of Open Access Journals (Sweden)

    Deepak Gupta

    2014-06-01

    Full Text Available Burning mouth syndrome (BMS is a relatively common disease that can severely affect the quality of life of the patient. It causes chronic orofacial pain or oral burning sensation even in the absence of any detectable organic cause. The etiology of BMS is complex and multifactorial. It has been associated with menopause, trigger events and even genetic polymorphisms. Although its etiology remains unclear, there is still much evidence that psychological elements like stress, anxiety or depression do play a significant role. There are several studies in the literature which only report the association of BMS with psychological factors. But to the best of our knowledge, there is no such case reported in the literature which has actually highlighted the management of such a case with psychogenic elements involved. In this case report, apart from discussing the role of psychological factors, the treatment of BMS with emphasis on counseling is also emphasized. Further, it is of interest to know that such patients with psychologically induced burning mouth syndrome have to be evaluated to their deepest details. Even their commonly overlooked gestures and habits like watching a particular television soap opera may be involved in their disease process. It can be concluded that psychological counseling in general dental practice can provide an effective cure for chronic oral burning sensation with psychological factors involved.

  1. Fatal Pulmonary Embolism Due to Inherited Thrombophilia Factors in a Child With Wolfram Syndrome.

    Science.gov (United States)

    Küçüktaşçi, Kazim; Semiz, Serap; Balci, Yasemin Işik; Özsari, Tamer; Gürses, Dolunay; Önem, Gökhan; Saçar, Mustafa; Düzcan, Füsun; Yüksel, Doğangün; Semiz, Ender

    2016-10-01

    Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus (DM), optic atrophy, diabetes insipidus, and deafness. Poorly controlled type 1 DM increases the risk for thrombosis. However, coexistence of DM and hereditary thrombosis factors is rarely observed. Here we present the case of a 13.5-year-old, nonfollowed girl newly diagnosed with poorly controlled Wolfram syndrome on the basis of the results of clinical and laboratory examinations. On the eighth day after diabetic ketoacidosis treatment, pulmonary embolism developed in the subject. Thrombus identified in the right atrium using echocardiography was treated by emergency thrombectomy. Homozygous mutation in the methylenetetrahydrofolate reductase gene C677T, heterozygous factor-V Leiden mutation, and active protein C resistance were identified in the patient. The patient was lost because of a recurring episode of pulmonary embolism on the 86th day of hospitalization. We present this case to highlight the need for investigating hereditary thrombosis risk factors in diabetic patients in whom thromboembolism develops.

  2. Budd-Chiari and inferior caval vein syndromes due to membranous obstruction of the liver veins. Successful treatment with angioplasty and transcaval TIPS

    DEFF Research Database (Denmark)

    Holland-Fischer, Peter

    2004-01-01

    The case is presented of a 25-year-old Caucasian patient with Budd-Chiari syndrome due to membranous obstruction of the liver veins and inferior caval vein syndrome as a result of secondary hyperplasia of the caudate lobe of the liver, obstructing the caval vein. Diagnosis was established...... that angioplasty and TIPS are safe and efficient procedures to reduce liver engorgement and complications of portal hypertension in selected patients with Budd-Chiari syndrome....

  3. Stevens-Johnson syndrome and toxic epidermal necrolysis due to anticonvulsants share certain clinical and laboratory features with drug-induced hypersensitivity syndrome, despite differences in cutaneous presentations.

    Science.gov (United States)

    Teraki, Y; Shibuya, M; Izaki, S

    2010-10-01

    Drug-induced hypersensitivity syndrome (DIHS)/drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is characterized by late disease onset, fever, rash, hepatic dysfunction, haematological abnormalities, lymphadenopathy and often, human herpesvirus (HHV) reactivation. The diagnosis of DIHS is based on the combined presence of these findings. Anticonvulsants are a major cause of DIHS and may also cause Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). We examined whether SJS/TEN due to anticonvulsants display similar clinical and laboratory features seen in DIHS. Patients diagnosed with SJS or TEN due to anticonvulsants (n = 8) were examined and their clinical features and laboratory findings were compared with patients with anticonvulsant-related DIHS (n = 6). Seven of the eight patients with SJS/TEN developed symptoms > 3 weeks after starting anticonvulsants. Hepatic dysfunction was present in six patients with SJS/TEN and five patients with DIHS. Leucocytosis and/or eosinophilia was noted in seven patients with SJS/TEN and four patients with DIHS. Only one patient in the SJS/TEN group had atypical lymphocytosis; this was present in four patients with DIHS. Reactivation of HHV-6 was detected in one of the four patients tested in the SJS/TEN group, although it was seen in five of the six patients with DIHS. TSJS/TEN due to anticonvulsants may exhibit some clinical and laboratory features of DIHS. The nature of the cutaneous involvement should be emphasized in the diagnosis of DIHS. © 2009 The Author(s). Journal compilation © 2009 British Association of Dermatologists.

  4. Abdominal intra-compartment syndrome - a non-hydraulic model of abdominal compartment syndrome due to post-hepatectomy hemorrhage in a man with a localized frozen abdomen due to extensive adhesions: a case report.

    Science.gov (United States)

    Bressan, Alexsander K; Kirkpatrick, Andrew W; Ball, Chad G

    2016-09-15

    Postoperative hemorrhage is a significant cause of morbidity and mortality following liver resection. It typically presents early within the postoperative period, and conservative management is possible in the majority of cases. We present a case of late post-hepatectomy hemorrhage associated with overt abdominal compartment syndrome resulting from a localized functional compartment within the abdomen. A 68-year-old white man was readmitted with sudden onset of upper abdominal pain, vomiting, and hemodynamic instability 8 days after an uneventful hepatic resection for metachronous colon cancer metastasis. A frozen abdomen with adhesions due to complicated previous abdominal surgeries was encountered at the first intervention, but the surgery itself and initial recovery were otherwise unremarkable. Prompt response to fluid resuscitation at admission was followed by a computed tomography of his abdomen that revealed active arterial hemorrhage in the liver resection site and hemoperitoneum (estimated volume abdominal compartment syndrome. Surgical exploration confirmed a small volume of ascites and blood clots (1.2 L) under significant pressure in his supramesocolic region, restricted by his frozen lower abdomen, which we evacuated. Dramatic improvement in his ventilatory pressure was immediate. His abdomen was left open and a negative pressure device was placed for temporary abdominal closure. The fascia was formally closed after 48 hours. He was discharged home at postoperative day 6. Intra-abdominal pressure and radiologic findings of intra-abdominal hemorrhage should be carefully interpreted in patients with extensive intra-abdominal adhesions. A high index of suspicion and detailed understanding of abdominal compartment mechanics are paramount for the timely diagnosis of abdominal compartment syndrome in these patients. Clinicians should be aware that abnormal anatomy (such as adhesions) coupled with localized pathophysiology (such as hemorrhage) can create a so

  5. An Aspirational Community Theory of the Firm

    DEFF Research Database (Denmark)

    Li, Xin

    propose an aspirational community theory of the firm (ACT) as a candidate theory by conceptualizing the firm as an aspirational community, the core of which is a group of like-minded people sharing similar or same aspiration/vision. To explain the existence of the firm, we make a distinction between......All of the three major theories of the firm, i.e., the transaction cost theory, knowledge-based theory and the entrepreneurship theory, offer some insightful analyses of the nature of the firm. However, they all have limitations and weaknesses in answering the fundamental question of the existence...... of the firm. In addition, they are all partial due to their particular focus on the multifaceted phenomenon of the firm. We argue that it is necessary and sufficient to develop a comprehensive yet integrative theory of the firm that combines the three competing yet complementary logics. Toward this end, we...

  6. Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation.

    Science.gov (United States)

    Bogdanova-Mihaylova, Petya; Alexander, Michael D; Murphy, Raymond P J; Murphy, Sinéad M

    2017-09-01

    Waardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in WS. SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, and Hirschsprung disease. Here we report a 32-year-old man with a novel heterozygous missense variant in SOX10 gene, who presented with congenital deafness, Hirschsprung disease, iris heterochromia, foot deformity, and intermediate conduction velocity length-dependent sensorimotor neuropathy. This case highlights that the presence of other non-neuropathic features in a patient with presumed hereditary neuropathy should alert the clinician to possible atypical rare causes. © 2017 Peripheral Nerve Society.

  7. Fetal and neonatal abnormalities due to congenital rubella syndrome: a review of literature.

    Science.gov (United States)

    Yazigi, Alexandre; De Pecoulas, Aurelia Eldin; Vauloup-Fellous, Christelle; Grangeot-Keros, Liliane; Ayoubi, Jean-Marc; Picone, Olivier

    2017-02-01

    Rubella virus infection during the first trimester of pregnancy can cause congenital rubella syndrome (CRS). We aimed to describe the abnormalities in order to define the ultrasound features to look for when performing prenatal scans. The goal of this review is to focus specifically on the signs of CRS accessible to prenatal diagnosis. We analyzed every case of CRS described before and/or after birth that we identified in the Pubmed database and classified them as accessible or not to prenatal diagnosis. The most frequently reported malformations accessible to prenatal diagnosis were: cardiac septal defects, pulmonary artery stenosis, microcephaly, cataract, microphtalmia, and hepatosplenomegaly. This extensive literature review shows that the ultrasound features of CRS are not well known, even though rubella was the first teratogenic virus described. This review will help clinicians in the management of rubella during pregnancy by clarifying the findings to be sought.

  8. RENOVASCULAR HYPERTENSION DUE TO RENAL ARTERY STENOSIS IN KLIPPEL-FEIL SYNDROME

    Directory of Open Access Journals (Sweden)

    Foyaca-Sibat H. MD.

    2003-01-01

    Full Text Available ABSTRACT We report one patient with Klippel-Feil (KFS syndrome, other associated anomalies, uncontrolled arterial hypertension, and renal artery stenosis. Because this patient underwent for surgical revascularization with unsuccessful result, all proposed way of treatments are revised, and we have hypothesized that probably for patients with KFS and unilateral renal artery stenosis, medical treatment with ACE inhibitors can provide more benefits than surgical revascularization or percutaneous transluminal angioplasty. We considered that those patients should be manage by a team of medical doctors being aware of their common associated anomalies, identifying all of them when it is possible then, making an integral evaluation of the each individual situation for establishing their medical priorities in order, and then address its treatments accordingly. If at this stage any surgical treatment is required, is important to bring those problems to the anesthesiologist’s attention for a very careful manipulation of the neck and head during induction of anesthesia. The final results will be strongly related with the capacity of management of the underlying cardio-respiratory, renal, skeletal, urogenital, and nervous system problems. . We also propose the term of Klippel-Feil syndrome "Plus" for those patients with cervical vertebral fusion and many other associated deformities rather than to add new eponyms to the long list that already exist. _____________ RESUMEN: HIPERTENSION RENOVASCULAR DEBIDO A ESTENOSIS DE LA ARTERIA RENAL EN EL SÍNDROME DE KLIPPEL-FEIL Reportamos un paciente afectado por un syndrome de Klippel-Feil, otras anormalias congenitas, hipertension arterial incontrolada y una estenosis unilateral de la arteria renal. Este paciente fue sometido a un tratamiento quirÚrgico de la estenosis de la arteria renal, cuyos resultados fueron no satisfactorios por lo que revisamos todas las alternativas de tratamiento para la estenosis

  9. A repeated carpal tunnel syndrome due to tophaceous gout in flexor tendon: A case report.

    Science.gov (United States)

    Lu, Hui; Chen, Qiang; Shen, Hui

    2017-03-01

    Gouty tophi is a rare cause of CTS. We first report a unique case of repeated CTS with gouty tophi in flexor tendon. In the previous literature, the symptoms cases of CTS were gradually increased. We report a 44-year-old male porter presented with mass on his left distal forearm combined a repeated carpal tunnel syndrome for 5 years. He felt numbness in fingers and his left palmar. The CTS symptoms had been eased through rest and dugs medication. It recurred twice. Monosodium urate crystal deposits were found in surgery. Histologic findings confirmed the diagnosis of gout. We removed partial of gouty tophus and retained the integrity of the tendon. Two years after the surgery, the patient had not experienced any symptom recurrence. Early diagnosis and control of gout are necessary to avoid irreversible complications. The surgery combined with decreasing trioxypurine treatment can improve the treatment outcome of gouty tophus.

  10. A repeated carpal tunnel syndrome due to tophaceous gout in flexor tendon

    Science.gov (United States)

    Lu, Hui; Chen, Qiang; Shen, Hui

    2017-01-01

    Abstract Rationale: Gouty tophi is a rare cause of CTS. We first report a unique case of repeated CTS with gouty tophi in flexor tendon. In the previous literature, the symptoms cases of CTS were gradually increased. Patient concerns: We report a 44-year-old male porter presented with mass on his left distal forearm combined a repeated carpal tunnel syndrome for 5 years. He felt numbness in fingers and his left palmar. The CTS symptoms had been eased through rest and dugs medication. It recurred twice. Diagnoses: Monosodium urate crystal deposits were found in surgery. Histologic findings confirmed the diagnosis of gout. Interventions: We removed partial of gouty tophus and retained the integrity of the tendon. Outcomes: Two years after the surgery, the patient had not experienced any symptom recurrence. Lessons: Early diagnosis and control of gout are necessary to avoid irreversible complications. The surgery combined with decreasing trioxypurine treatment can improve the treatment outcome of gouty tophus. PMID:28248892

  11. Eosinophilic myocarditis due to Churg-Strauss syndrome mimicking reversible dilated cardiomyopathy.

    Science.gov (United States)

    Chen, Ming-xian; Yu, Bi-lian; Peng, Dao-quan; Zhou, Sheng-hua

    2014-01-01

    A 41-year-old woman with a history of asthma arrived at the emergency room of our hospital with dyspnea. The electrocardiogram showed no specific results. Echocardiography defects revealed an obvious decrease in the left ventricular systolic function and enlargement of the left chamber. We initially considered her condition to be dilated cardiomyopathy. However, she had eosinophilia in the peripheral blood and elevated cardiac enzymes. The coronary angiography showed normal coronary arteries. Single photon emission computed tomography (SPECT) showed infiltrative myocardial disease. She was then diagnosed with eosinophil infiltrations. Combined with peripheral nerve injury and lung involvement, she was diagnosed as having Churg-Strauss syndrome. After initiating prednisone treatment, her eosinophilia and rising cardiac enzymes recovered to normal, and both her echocardiographic abnormalities and symptoms noticeably improved. Copyright © 2014 Elsevier Inc. All rights reserved.

  12. Subarachnoid hemorrhage due to ruptured intracranial aneurysm following posterior reversible encephalopathy syndrome

    Directory of Open Access Journals (Sweden)

    Takamasa Nanba

    2016-01-01

    Full Text Available Although posterior reversible encephalopathy syndrome (PRES is rarely associated with subarachnoid hemorrhage, to our knowledge, rupture of a concomitant cerebral aneurysm following PRES has not been reported. We describe a patient with atypical PRES involving the brainstem, thalamus, and periventricular white matter without cortical or subcortical edema of the parietooccipital lobe on magnetic resonance imaging, with rupture of a concomitant cerebral aneurysm. Preexisting extremely high blood pressure may trigger atypical PRES, and failure to lower blood pressure may lead to a concomitant aneurysm rupture. In the future treatment of hypertensive urgency with a recurrence of symptoms and mean arterial blood pressure >150 mmHg, it is advisable to immediately hospitalize the patient for aggressive blood pressure management, especially if PRES is suspected based on clinical and radiological features.

  13. [Long QT syndrome and polymorphic ventricular tachycardia due to hypopituitarism. Report of one case].

    Science.gov (United States)

    García-Castro, José Miguel; García-Martín, Antonia; Guirao-Arrabal, Emilio; Carrillo-Alascio, Pedro Luis

    2017-07-01

    Symptoms of hypopituitarism are usually chronic and nonspecific, but rarely the disease can have acute and life threatening manifestations. We report a 53 years old female with a pituitary adenoma that was admitted to our hospital because of syncope. The electrocardiogram showed sinus bradycardia with a prolonged QT interval. Frequent runs of non-sustained polymorphic ventricular tachycardia were noted on telemetry. The patient had a history of severe acute headaches in the previous days and laboratory tests revealed severe secondary hypothyroidism, adrenal insufficiency and a decrease in pituitary hormones. A magnetic resonance imaging of the head showed changes in the size and contrast enhancement of the adenoma. A diagnosis of hypopituitarism secondary to pituitary apoplexy was made and treatment with hydrocortisone and, subsequently, levothyroxine was started. Hormonal disorders such as hypothyroidism, adrenal insufficiency or hypopituitarism should be considered as unusual causes for reversible cardiomyopathy, long QT syndrome and ventricular arrhythmias.

  14. Thyrotoxicosis followed by Hypothyroidism due to Suppurative Thyroiditis Caused by Nocardia brasiliensis in a Patient with Advanced Acquired Immunodeficiency Syndrome.

    Science.gov (United States)

    Teckie, G2; Bhana, S A; Tsitsi, J M L; Shires, R

    2014-03-01

    Acute thyroiditis is an extremely rare complication of nocardiosis. We report a patient with hyperthyroidism due to suppurative thyroiditis caused by Nocardia brasiliensis. A 38-year-old Black male presented with features of thyrotoxicosis, sepsis and airway obstruction. He had no evidence of underlying thyroid disease, but was severely immunocompromised as a result of acquired immunodeficiency syndrome. He had previously been diagnosed with pulmonary nocardiosis and also had nocardial abscesses on his anterior chest wall. Investigations revealed thyrotoxicosis, with a FT4 of 43.2 pmol/l and a suppressed TSH Nocardia.

  15. MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.

    Science.gov (United States)

    Liu, Kaiming; Zhao, Hui; Ji, Kunqian; Yan, Chuanzhu

    2014-03-01

    We report the case of a 19-year-old Chinese female harboring the m.3291T>C mutation in the MT-TL1 gene encoding the mitochondrial transfer RNA for leucine. She presented with a complex phenotype characterized by progressive cerebellar ataxia, frequent myoclonus seizures, recurrent stroke-like episodes, migraine-like headaches with nausea and vomiting, and elevated resting lactate blood level. It is known that the myoclonus epilepsy with ragged-red fibers (MERRF) is characterized by cerebellar ataxia and myoclonus epilepsy, while that the mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is characterized by recurrent stroke-like episodes, migraine-like headaches, and elevated resting lactate blood level. So the patient's clinical manifestations suggest the presence of a MERRF/MELAS overlap syndrome. Muscle biopsy of the patient showed the presence of numerous scattered ragged-red fibers, some cytochrome c oxidase-deficient fibers, and several strongly succinate dehygrogenase-reactive vessels, suggestive of a mitochondrial disorder. Direct sequencing of the complete mitochondrial genome of the proband revealed no mutations other than the T-to-C transition at nucleotide position 3291. Restriction fragment length polymorphism analysis of the proband and her family revealed maternal inheritance of the mutation in a heteroplasmic manner. The analysis of aerobic respiration and glycolysis demonstrated that the fibroblasts from the patient had mitochondrial dysfunction. Our results suggest that the m.3291T>C is pathogenic. This study is the first to describe the m.3291T>C mutation in association with the MERRF/MELAS overlap syndrome.

  16. Aspiration of Barium Contrast

    Directory of Open Access Journals (Sweden)

    Cristina Fuentes Santos

    2014-01-01

    Full Text Available The aspiration of barium contrast is a rare complication that may occur during studies of the digestive tract. Barium is an inert material that can cause anywhere from an asymptomatic mechanical obstruction to serious symptoms of respiratory distress that can result in patient death. We present the case of a 79-year-old male patient in whom we observed the presence of contrast medium residue in the lung parenchyma as an incidental finding during hospitalization. When the patient’s medical file was reviewed, images were found of a barium swallow study that the patient had undergone months earlier, and we were able to observe the exact moment of the aspiration of the contrast material. The patient had been asymptomatic since the test.

  17. Aspiration of Barium Contrast

    OpenAIRE

    Fuentes Santos, Cristina; Steen, Bárbara

    2014-01-01

    The aspiration of barium contrast is a rare complication that may occur during studies of the digestive tract. Barium is an inert material that can cause anywhere from an asymptomatic mechanical obstruction to serious symptoms of respiratory distress that can result in patient death. We present the case of a 79-year-old male patient in whom we observed the presence of contrast medium residue in the lung parenchyma as an incidental finding during hospitalization. When the patient’s medical fil...

  18. Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.

    Science.gov (United States)

    Bornstein, Belén; Area, Estela; Flanigan, Kevin M; Ganesh, Jaya; Jayakar, Parul; Swoboda, Kathryn J; Coku, Jorida; Naini, Ali; Shanske, Sara; Tanji, Kurenai; Hirano, Michio; DiMauro, Salvatore

    2008-06-01

    Mitochondrial DNA depletion syndrome (MDS) is characterized by a reduction in mtDNA copy number and has been associated with mutations in eight nuclear genes, including enzymes involved in mitochondrial nucleotide metabolism (POLG, TK2, DGUOK, SUCLA2, SUCLG1, PEO1) and MPV17. Recently, mutations in the RRM2B gene, encoding the p53-controlled ribonucleotide reductase subunit, have been described in seven infants from four families, who presented with various combinations of hypotonia, tubulopathy, seizures, respiratory distress, diarrhea, and lactic acidosis. All children died before 4 months of age. We sequenced the RRM2B gene in three unrelated cases with unexplained severe mtDNA depletion. The first patient developed intractable diarrhea, profound weakness, respiratory distress, and died at 3 months. The other two unrelated patients had a much milder phenotype and are still alive at ages 27 and 36 months. All three patients had lactic acidosis and severe depletion of mtDNA in muscle. Muscle histochemistry showed RRF and COX deficiency. Sequencing the RRM2B gene revealed three missense mutations and two single nucleotide deletions in exons 6, 8, and 9, confirming that RRM2B mutations are important causes of MDS and that the clinical phenotype is heterogeneous and not invariably fatal in infancy.

  19. First reported case of reactive airway dysfunction syndrome in a laborer due to porcelain tile dust.

    Science.gov (United States)

    Arif, Tasleem; Malik, Javid Ahmad; Shoib, Sheikh

    2013-06-01

    Reactive airway dysfunction syndrome (RADS) is a type of non-immunologically mediated asthma-like disease. It usually occurs after a massive exposure to an irritating substance in the atmosphere in the form of smoke, fumes, gases, and vapor. Unlike bronchial asthma, there is no latency to the symptoms seen in RADS. A number of agents are known to cause RADS, but tile dust, as an etiological agent, has not been previously reported. We report a 45-year-old male laborer, who presented with an acute onset of cough, chest tightness, breathlessness, and audible wheeze after his first time exposure to porcelain tile dust within 5 hours of exposure. Lab tests, including, chest X-ray, electrocardiogram, air blood gas analysis, and serum IgE, were unremarkable. Spirometry showed a mild obstruction [forced expiratory volume in 1 second (FEV1)=72% of predicted], while the bronchodilator reversibility test was significant(14% increase in FEV1 above the baseline).Bronchial biopsy revealed a chronic inflammatory reaction with lymphocytic and plasma cell infiltration and more importantly a striking absence of eosinophils. To the best of our knowledge, this is the first reported case of RADS as a result of exposure to tile dust (porcelain ceramics).

  20. Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome

    Directory of Open Access Journals (Sweden)

    E. B. Gómez García

    2012-01-01

    Full Text Available Cowden syndrome (CS is an autosomal dominant disorder characterized by presence of multiple hamartomas, and other benign and malignant abnormalities of the breasts, skin, thyroid, endometrium, gastrointestinal tract, and central nervous system. Hamartomas are benign, developmentally disorganized tumors that can develop in any of the above mentioned organs. The presence of massive calcifications in the breasts in very young women is an indication to perform a breast MRI to exclude a neoplasm since, like in the current case report, presence of breast calcifications may obscure a neoplasm. Although fibrocystic disease and cooccurrence of fibrocystic disease and breast cancer are much more common than CS, the presence of massive calcifications in the breasts of very young women should elicit the possibility of an underlying genetic disease. Furthermore, breast cancer and macrocephaly are considered major criteria for the diagnosis of CS and the combination of both is enough to establish the clinical diagnosis of this entity. Fibrocystic disease of the breasts and multinodular goiter are minor criteria. Family history is also important for the diagnosis of (any hereditary disease.

  1. Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor.

    Science.gov (United States)

    Batista, Rafael Loch; Rodrigues, Andresa De Santi; Machado, Aline Zamboni; Nishi, Mirian Yumie; Cunha, Flávia Siqueira; Silva, Rosana Barbosa; Costa, Elaine M F; Mendonca, Berenice B; Domenice, Sorahia

    2018-01-26

    Androgen insensitivity syndrome (AIS) is the most frequent etiology of 46,XY disorders of sex development (DSDs), and it is an X-linked disorder caused by mutations in the androgen receptor (AR) gene. AIS patients present a broad phenotypic spectrum and individuals with a partial phenotype present with different degrees of undervirilized external genitalia. There are more than 500 different AR gene allelic variants reported to be linked to AIS, but the presence of somatic mosaicisms has been rarely identified. In the presence of a wild-type AR gene, a significant degree of spontaneous virilization at puberty can be observed, and it could influence the gender assignment, genetic counseling and the clinical and psychological management of these patients and the psychosexual outcomes of these patients are not known. In this study, we report two patients with AR allelic variants in heterozygous (c.382G>T and c.1769-1G>C) causing a partial AIS (PAIS) phenotype. The first patient was raised as female and she had undergone a gonadectomy at puberty. In both patients there was congruency between gender of rearing and gender identity and gender role. Somatic mosaicism is rare in AIS and nonsense AR variant allelic can cause partial AIS phenotype in this situation. Despite the risk of virilization and prenatal androgen exposure, the gender identity and gender role was concordant with sex of rearing in both cases. A better testosterone response can be expected in male individuals and this should be considered in the clinical management.

  2. Corticobasal syndrome due to sporadic Creutzfeldt-Jakob disease: a review and neuropsychological case report.

    Science.gov (United States)

    González, David Andrés; Soble, Jason R

    2017-04-01

    Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, and fatal neurodegenerative disease with neuropsychological sequelae. This study highlighted a rare presentation of CJD (e.g. corticobasal syndrome [CBS]), reviewed updated diagnostic criteria and procedures for CJD (e.g. diffusion weighted imaging [DWI], real-time quaking-induced conversion [RT-QuIC]), and discussed differential diagnoses. Case report methodology focused on a 68-year-old, Hispanic, right-handed man with 11 years of education. He presented with a 1-2-month history of gait and motor difficulties (e.g. rigidity, myoclonus). After evaluation, a 'cortical ribboning' pattern on DWI and positive RT-QuIC was integrated with performance on neurobehavioral exam (i.e. alien limb phenomenon, unilateral ideomotor apraxia) and neuropsychological testing (i.e. frontal-parietal dysfunction pattern) to reach a diagnosis of sCJD-CBS. The patient expired 3 months after onset of symptoms. This literature review and case report highlighted the importance of staying abreast of developments in neurological literature and the added value of neuropsychology, when integrated with newer procedures, for confirming and excluding diagnostic considerations.

  3. Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.

    Science.gov (United States)

    Santoro, Stephanie L; Hashimoto, Sayaka; McKinney, Aimee; Mihalic Mosher, Theresa; Pyatt, Robert; Reshmi, Shalini C; Astbury, Caroline; Hickey, Scott E

    2017-01-01

    Maternal uniparental disomy (UPD) 15 is one of the molecular causes of Prader-Willi syndrome (PWS), a multisystem disorder which presents with neonatal hypotonia and feeding difficulty. Current diagnostic algorithms differ regarding the use of SNP microarray to detect PWS. We retrospectively examined the frequency with which SNP microarray could identify regions of homozygosity (ROH) in patients with PWS. We determined that 7/12 (58%) patients with previously confirmed PWS by methylation analysis and microsatellite-positive UPD studies had ROH (>10 Mb) by SNP microarray. Additional assessment of 5,000 clinical microarrays, performed from 2013 to present, determined that only a single case of ROH for chromosome 15 was not caused by an imprinting disorder or identity by descent. We observed that ROH for chromosome 15 is rarely incidental and strongly associated with hypotonic infants having features of PWS. Although UPD microsatellite studies remain essential to definitively establish the presence of UPD, SNP microarray has important utility in the timely diagnostic algorithm for PWS. © 2017 S. Karger AG, Basel.

  4. An infant with hyperalertness, hyperkinesis, and failure to thrive: a rare diencephalic syndrome due to hypothalamic anaplastic astrocytoma.

    Science.gov (United States)

    Stival, Alessia; Lucchesi, Maurizio; Farina, Silvia; Buccoliero, Anna Maria; Castiglione, Francesca; Genitori, Lorenzo; de Martino, Maurizio; Sardi, Iacopo

    2015-09-04

    Diencephalic Syndrome is a rare clinical condition of failure to thrive despite a normal caloric intake, hyperalertness, hyperkinesis, and euphoria usually associated with low-grade hypothalamic astrocytomas. We reported an unusual case of diencephalic cachexia due to hypothalamic anaplastic astrocytoma (WHO-grade III). Baseline endocrine function evaluation was performed in this patient before surgery. After histological diagnosis, he enrolled to a chemotherapy program with sequential high-dose chemotherapy followed by hematopoietic stem cell rescue. The last MRI evaluation showed a good response. The patient is still alive with good visual function 21 months after starting chemotherapy. Diencephalic cachexia can rarely be due to high-grade hypothalamic astrocytoma. We suggest that a nutritional support with chemotherapy given to high doses without radiotherapy could be an effective strategy for treatment of a poor-prognosis disease.

  5. Frequency of Cushing's syndrome due to ACTH-secreting adrenal medullary lesions: a retrospective study over 10 years from a single center.

    Science.gov (United States)

    Falhammar, Henrik; Calissendorff, Jan; Höybye, Charlotte

    2017-01-01

    Cushing's syndrome due to ectopic adrenocorticotropic hormone production from adrenal medullary lesions has occasionally been described. We retrospectively reviewed all 164 cases of Cushing's syndrome and 77 cases of pheochromocytomas during 10 years. Of all cases with Cushing's syndrome, only two cases (1.2 %) were due to ectopic adrenocorticotropic hormone production from adrenal medullary lesions (one case of pheochromocytoma and one case of adrenal medullary hyperplasia). Of all pheochromocytomas only the above-mentioned case (1.3 %) also gave rise to an ectopic adrenocorticotropic hormone syndrome. The clinical presentation of adrenocorticotropic hormone-secreting pheochromocytoma and adrenal medullary hyperplasia can be anything from mild to dramatic. These are rare conditions important to bear in mind in the workup of a patient with Cushing's syndrome or with pheochromocytoma. The identification of ectopic adrenocorticotropic hormone secretion from adrenal medullary lesions can be life-saving.

  6. Retinal disease course in Usher syndrome 1B due to MYO7A mutations.

    Science.gov (United States)

    Jacobson, Samuel G; Cideciyan, Artur V; Gibbs, Dan; Sumaroka, Alexander; Roman, Alejandro J; Aleman, Tomas S; Schwartz, Sharon B; Olivares, Melani B; Russell, Robert C; Steinberg, Janet D; Kenna, Margaret A; Kimberling, William J; Rehm, Heidi L; Williams, David S

    2011-10-07

    PURPOSE. To determine the disease course in Usher syndrome type IB (USH1B) caused by myosin 7A (MYO7A) gene mutations. METHODS. USH1B patients (n = 33, ages 2-61) representing 25 different families were studied by ocular examination, kinetic and chromatic static perimetry, dark adaptometry, and optical coherence tomography (OCT). Consequences of the mutant alleles were predicted. RESULTS. All MYO7A patients had severely abnormal ERGs, but kinetic fields revealed regional patterns of visual loss that suggested a disease sequence. Rod-mediated vision could be lost to different degrees in the first decades of life. Cone vision followed a more predictable and slower decline. Central vision ranged from normal to reduced in the first four decades of life and thereafter was severely abnormal. Dark adaptation kinetics was normal. Photoreceptor layer thickness in a wide region of central retina could differ dramatically between patients of comparable ages; and there were examples of severe losses in childhood as well as relative preservation in patients in the third decade of life. Comparisons were made between the mutant alleles in mild versus more severe phenotypes. CONCLUSIONS. A disease sequence in USH1B leads from generally full but impaired visual fields to residual small central islands. At most disease stages, there was preserved temporal peripheral field, a potential target for early phase clinical trials of gene therapy. From data comparing patients' rod disease in this cohort, the authors speculate that null MYO7A alleles could be associated with milder dysfunction and fewer photoreceptor structural losses at ages when other genotypes show more severe phenotypes.

  7. Retinal Disease Course in Usher Syndrome 1B Due to MYO7A Mutations

    Science.gov (United States)

    Jacobson, Samuel G.; Cideciyan, Artur V.; Gibbs, Dan; Sumaroka, Alexander; Roman, Alejandro J.; Aleman, Tomas S.; Schwartz, Sharon B.; Olivares, Melani B.; Russell, Robert C.; Steinberg, Janet D.; Kenna, Margaret A.; Kimberling, William J.; Rehm, Heidi L.; Williams, David S.

    2011-01-01

    Purpose. To determine the disease course in Usher syndrome type IB (USH1B) caused by myosin 7A (MYO7A) gene mutations. Methods. USH1B patients (n = 33, ages 2–61) representing 25 different families were studied by ocular examination, kinetic and chromatic static perimetry, dark adaptometry, and optical coherence tomography (OCT). Consequences of the mutant alleles were predicted. Results. All MYO7A patients had severely abnormal ERGs, but kinetic fields revealed regional patterns of visual loss that suggested a disease sequence. Rod-mediated vision could be lost to different degrees in the first decades of life. Cone vision followed a more predictable and slower decline. Central vision ranged from normal to reduced in the first four decades of life and thereafter was severely abnormal. Dark adaptation kinetics was normal. Photoreceptor layer thickness in a wide region of central retina could differ dramatically between patients of comparable ages; and there were examples of severe losses in childhood as well as relative preservation in patients in the third decade of life. Comparisons were made between the mutant alleles in mild versus more severe phenotypes. Conclusions. A disease sequence in USH1B leads from generally full but impaired visual fields to residual small central islands. At most disease stages, there was preserved temporal peripheral field, a potential target for early phase clinical trials of gene therapy. From data comparing patients' rod disease in this cohort, the authors speculate that null MYO7A alleles could be associated with milder dysfunction and fewer photoreceptor structural losses at ages when other genotypes show more severe phenotypes. PMID:21873662

  8. Protective effect of L-Cysteine upon leukopenic syndrome due to radiotherapy

    Energy Technology Data Exchange (ETDEWEB)

    Jingu, K; Matsuura, K [Kyushu Univ., Fukuoka (Japan). Faculty of Medicine; Bussaka, Y

    1981-08-01

    L-Cysteine, glutathione, inosine, and cepharanthin are the agents which have been widely used to prevent and treat the leukopenic syndrome following radiotherapy. Among these, the efficacy of inosine has been demonstrated in a double-blind comparative study. A double-blind controlled study of L-Cysteine compared to inosine and lactose-placebo was performed. Patients designated to receive radiotherapy for cancer of the lung, breast and uterine cervix were randomly allocated to 3 groups; namely, those to receive L-Cysteine 480 mg TID (CG group), inosine 1,800 mg TID (IN group) and placebo capsules (PL group) for 6 to 7 weeks. Among 159 cases, 152 were subjected to statistical analyses, and the latter consisted of 54 CG, 52 IN and 46 PL subjects. Any discrepancies among these 3 groups concerning sex, age, disease, WBC count, radiation procedure, or combined use of carcinostatics were negligible. According to the life-table analysis, the cumulative rates for the 3 groups were compared with respect to maintenance of WBC counts higher than 4,000/mm/sup 3/. Maintenance was best in the CG group, intermediate in the IN, and poorest in the PL group, the difference between CG and PL being statistically significant at the 5% level. Similar results were obtained in separate analyses of strata with and without concomitant carcinostatics. Furthermore, nearly the same results were obtained as those in the life-table analyses when data concerning efficacy and clinical usefulness as judged by physicians were analyzed. The present study indicates that the oral administration of L-Cysteine is safe and effective in preventing and treating leukopenic complications associated with radiotherapy.

  9. Care in post-traumatic syndrome due to gender violence: a case report.

    Science.gov (United States)

    Sánchez-Herrero, Héctor; Duarte-Clíments, Gonzalo; González-Pérez, Teodoro; Sánchez-Gómez, María Begoña; Gomariz-Bolarín, David

    This article describes a clinical case of a patient attended at a continuous care point for a generalized anxiety disorder, principally due to abuse suffered from her ex partner. The patient was followed up at family nursing clinic, and the appropriate nursing interventions were developed to cover a series of needs prioritized by nurses using the AREA method and taking into account the prioritization of the user herself. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  10. Streptococcus pneumoniae bacteraemia due to parotitis in a patient with systemic sclerosis and secondary Sjögren's syndrome.

    Science.gov (United States)

    Yii, Irene Yuen Lin; Tan, Jamie Bee Xian; Fong, Warren Weng Seng

    2016-10-01

    Invasive pneumococcal disease is an uncommon and notifiable disease in Singapore. It is often associated with significant morbidity and mortality. We report a rare case of invasive pneumococcal bacteraemia due to parotitis in a patient with systemic sclerosis and secondary Sjögren's syndrome. We also present a retrospective review of Streptococcus pneumoniae bacteraemia cases in Singapore General Hospital from January 2011 to April 2016. A 59-year-old Malay lady with a history of systemic sclerosis with secondary Sjögren's syndrome presented with fever and left parotid gland swelling. Clinical examination revealed poor salivary pooling and left parotid swelling without fluctuance. Ultrasound of the left parotid gland confirmed acute parotitis without evidence of abscess or sialolithiasis. Blood cultures were positive for S. pneumoniae . She was diagnosed to have invasive pneumococcal bacteraemia secondary to acute parotitis, and treated with intravenous benzylpenicillin with clearance of bacteraemia after 3 days. Upon discharge, her antibiotics were changed to intravenous ceftriaxone to facilitate outpatient parenteral antibiotic therapy for another 2 weeks. She responded favourably to antibiotics at follow-up, with no complications from the bacteraemia. A review of the microbiological records of the Singapore General Hospital revealed 116 cases of pneumococcal bacteraemia, most (80.3 %) of which were due to pneumonia. None were due to parotitis. S. pneumoniae parotitis and subsequent bacteraemia is rare. Prompt recognition of the disease and appropriate use of antibiotics are important. This case highlights that close communication between healthcare workers (microbiologist, rheumatologist and infectious disease specialist) is essential in ensuring good clinical outcomes in patients with a potentially fatal disease.

  11. Conus medullaris syndrome due to an intradural disc herniation: A case report

    Directory of Open Access Journals (Sweden)

    Chaudhary Kshitij

    2008-01-01

    Full Text Available A 70-year-old male patient developed acute paraplegia due to conus medullaris compression secondary to extrusion of D12-L1 disc. After negative epidural examination intraoperatively, a durotomy was performed and an intradural disc fragment was excised. Patient did not regain ambulatory status at two-year follow-up. Intraoperative finding of negative extradural compression, tense swollen dura and CSF leak from ventral dura should alert the surgeon for the possibility of intradural disc herniation. A routine preoperative MRI is misleading and a high index of suspicion helps to avoid a missed diagnosis.

  12. Fournier's gangrene - a rare complication of hydrocele aspiration

    International Nuclear Information System (INIS)

    Ali, M.Z.

    2004-01-01

    A case of Fournier's gangrene of scrotum with systemic inflammatory response syndrome resulting from hydrocele aspiration in young male patient is presented. He was treated with antibiotics, wide local debridement of scrotal skin with evacuation of pus and gas; followed by serial debridements and dressings. Secondary suturing of scrotal defect was done after 02 weeks. (author)

  13. ASPIRE-to-Excellence Academy

    Directory of Open Access Journals (Sweden)

    Simon Drees

    2016-07-01

    Full Text Available The ASPIRE-to-Excellence Academy was recently founded at the 2015 Association for Medical Education in Europe (AMEE conference in Glasgow. The academy is new pillar of the ASPIRE-to-Excellence initiative by AMEE, which aims at promoting and encouraging medical schools in achieving excellence in the categories of assessment, student engagement, social accountability or faculty development. The Academy panel consists of the members of the ASPIRE Board and representatives from schools which have been recognised with an ASPIRE-to-excellence award in one or more of the categories. Major goal of the ASPIRE-to-Excellence Academy is to foster collaboration between excellent medical schools and to allow them to exchange experiences and Best Practices. The Academy members are organising workshops and symposia at international conferences to inform medical schools about the ASPIRE-to-Excellence programme and the areas for recognition in excellence as well as to support medical school in preparing their applications.

  14. Mortality and morbidity due to gastric dilatation-volvulus syndrome in pedigree dogs in the UK.

    Science.gov (United States)

    Evans, Katy M; Adams, Vicki J

    2010-07-01

    To estimate breed-specific risk of death due to, and prevalence of, gastric dilatation-volvulus (GDV) in UK pedigree dogs. Data were available on the reported cause of and age at death and occurrence of and age at diagnosis of disease from the 2004 purebred dog health survey. A total of 15,881 dogs of 165 breeds had died in the previous 10 years; GDV was the cause of death in 65 breeds. There were 36,006 live dogs of 169 breeds of which 48 breeds had experienced > or =1 episodes of GDV. Prevalence ratios were used to estimate breed-specific GDV mortality and morbidity risks. Gastric dilatation-volvulus was the cause of death for 389 dogs, representing 2.5% (95% CI: 2.2-2.7) of all deaths reported and the median age at death was 7.92 years. There were 253 episodes in 238 live dogs. The median age at first diagnosis was five years. Breeds at greatest risk of GDV mortality were the bloodhound, Grand Bleu de Gascogne, German longhaired pointer and Neapolitan mastiff. Breeds at greatest risk of GDV morbidity were the Grand Bleu de Gascogne, bloodhound, otterhound, Irish setter and Weimaraner. These results suggest that 16 breeds, mainly large/giant, are at increased risk of morbidity/mortality due to GDV.

  15. Bilateral symmetrical adrenal hypermetabolism on FDG PET/CT due to Cushing syndrome in well differentiated neuroendocrine carcinoma.

    Science.gov (United States)

    Aktas, G E; Soyluoglu Demir, S; Sarikaya, A

    2016-01-01

    The (18)F-FDG PET/CT scan has been suggested for whole-body imaging to identify ectopic adrenocorticotrophic hormone secreting tumours, but there are some challenges involved. The case of a patient is presented, who was admitted with the pre-diagnosis of ectopic ACTH syndrome. On the CT, a nodular lesion was detected in the medial segment of the right lung. The FDG uptake of the lesion seemed to be increased visually, but was not pathological quantitatively (SUVmax: 1.8) on the PET/CT. There was also diffuse increased uptake (SUVmax: 14.2) in the enlarged adrenal glands. The lesion was reported as a possible malignant lesion with low FDG affinity, such as a low grade neuroendocrine tumour, while the diffuse enlarged adrenal glands with high uptake were interpreted as diffusely hyperplasic, due to Cushing's syndrome. The patient was treated with a surgical wedge resection. The histopathological diagnosis confirmed that the tumour was a grade 1 well-differentiated neuroendocrine carcinoma. Copyright © 2015 Elsevier España, S.L.U. and SEMNIM. All rights reserved.

  16. Acute renal failure due to mesangial proliferative glomerulonephritis in a pregnant woman with primary Sjögren's syndrome.

    Science.gov (United States)

    Adam, Fatma Ulku; Torun, Dilek; Bolat, Filiz; Zumrutdal, Aysegul; Sezer, Siren; Ozdemir, Fatma Nurhan

    2006-02-01

    The most common form of renal involvement in Sjögren's syndrome (SS) is tubulointerstitial nephritis. Renal dysfunction is usually mild and subclinical. Glomerulonephritis (GMN) is rare in patients with SS. We report a 28-year-old multigravida patient with primary Sjögren's syndrome (pSS) and associated manifestations, who presented with acute renal failure in the 20th week of her fifth pregnancy. The complaints and clinical findings, positive Schirmer's test, findings of dry eye on ophthalmologic examination, and the salivary gland biopsy were compatible with SS. The patient exhibited no other clinical or laboratory findings indicative of other collagenous disease and/or rheumatoid arthritis. She refused renal biopsy, hesitating for fear of fetal loss; thus, based on the clinical and laboratory findings indicating rapidly progressive GMN and vasculitis, prednisolone, plasmapheresis, and one dose of cyclophosphamide were administered during the pregnancy. Hemodialysis five times weekly was performed. At the 28th week of gestation, she underwent a cesarean section due to early rupture of membranes and fetal distress. A healthy male boy was delivered. The renal biopsy performed 2 weeks after labor revealed mesangial proliferative glomerulonephritis. After the fourth cyclophosphamide treatment, her urinary output increased and she was discharged from the hemodialysis program. She remains in follow-up at our outpatient clinic free of hemodialysis for 4 months. This is the first report of mesangial proliferative GMN requiring dialysis in a pregnant pSS patient that has featured good maternal and fetal outcomes.

  17. Medical image of the week: abdominal compartment syndrome due to massive upper gastrointestinal hemorrhage

    Directory of Open Access Journals (Sweden)

    Truong VN

    2014-11-01

    Full Text Available No abstract available. Article truncated after 150 words. A 29 year old woman with history of a Whipple procedure for pancreatic cancer and nonalcoholic steatohepatitis cirrhosis presented with a massive upper gastrointestinal bleeding (UGIB likely from esophageal varices and developed hemorrhagic shock. Emergent upper endoscopy could not be performed due to hemodynamic instability. Therefore, a Minnesota Tube was placed emergently for balloon tamponade of the bleeding. A transjugular intrahepatic portosystemic shunt was also placed emergently to decrease bleeding by reducing portal pressure. By this time, the patient had received 4 liters of normal saline, 14 units of packed red blood cells, 6 units of platelets, and 4 units of fresh frozen plasma. The Minnesota tube did control the bleeding somewhat, however, there was continued bloody drainage from the stomach port of the Minnesota tube. The patient’s abdomen became remarkably distended and was dull to percussion throughout. A CT scan of the abdomen and pelvis revealed severe dilatation of ...

  18. A case report of secondary Budd-Chiari syndrome due to chronic empyema diagnosed by NMR-CT

    International Nuclear Information System (INIS)

    Takagi, Sayumi; Hattori, Akira; Yamauchi, Masayosi; Kimura, Kazuo; Suzino, Hajime; Sibata, Koji; Watanabe, Reijiro; Kameda, Haruo

    1985-01-01

    A 34-year-old male patient complained of general fatigue, ascites, and edema of the lower extremities. A chest x-ray film showed atelectasis of the right lung and pleural effusion of the right side. Liver ultrasonography revealed stenosis of the middle and right hepatic veins. Venacavography revealed stenosis of the inferior vena cava and collateral circulation. Finally, abdominal NMR-CT clearly visualized lunate stenosis and antero-lateral deviation of the inferior vena cava. He was diagnosed as having secondary Budd-Chiari syndrome resulting from the deviation and stenosis of the inferior vena cava due to distortion of the surrounding tissues by the thickened pleura which was caused by chronic empyema. (Namekawa, K.)

  19. Gender, aspirations, and achievements : Relating work and family aspirations to occupational outcomes

    NARCIS (Netherlands)

    van der Horst, Mariska

    2014-01-01

    Although women have increased their labour market participation and educational level they still lag behind men in their occupational achievements. An important discussion in the literature as well as in popular media is whether this is due to a gender difference in aspirations. In this study the

  20. Vocal fold immobility and aspiration status: a direct replication study.

    Science.gov (United States)

    Leder, Steven B; Suiter, Debra M; Duffey, Dianne; Judson, Benjamin L

    2012-06-01

    The purpose of this direct replication study was to confirm the incidence of vocal fold immobility (VFI) and its relationship to pharyngeal dysphagia and aspiration. Using a single-group consecutively referred case series, a total of 2,650 participants underwent fiberoptic endoscopic evaluation of swallowing between August 2003 and December 2007. Main outcome measures included overall incidence of VFI and aspiration status, with specific emphasis on age, gender, etiology and pharyngeal phase bolus flow characteristics, and side of VFI (right, left, or bilateral). These data were compared to and then combined with the original study (n = 1,452) for a total of 4,102 participants. Results indicated that the incidence of VFI was 4.3% (112/2,650), i.e., 27% (31/112) unilateral right, 58% (65/112) unilateral left, and 14% (16/112) bilateral. Incidence of aspiration was 22% (580/2,650). Of those with VFI, 40% (45/112) aspirated, i.e., 42% (13/31) unilateral right, 37% (24/65) unilateral left, and 50% (8/16) bilateral. An individual with VFI had 2.50 times the odds of aspirating as someone without VFI (95% CI = 1.86-3.37). For liquid aspiration, the odds ratio (OR) = 2.41 (95% CI = 1.77-3.28), and for puree aspiration, OR = 2.08 (95% CI = 1.47-2.93). Left VFI occurred most frequently due to surgical trauma. Liquid was aspirated more often than a puree. Males exhibited VFI more often than females. Side of VFI and age were not factors that increased the incidence of aspiration significantly. It was confirmed that VFI is not an uncommon finding during dysphagia testing and, when present, increased the odds of aspiration compared to a population already being evaluated for dysphagia.

  1. Aspiration Risk and Respiratory Complications in Patients with Esophageal Atresia.

    Science.gov (United States)

    Kovesi, Thomas

    2017-01-01

    Chronic, long-term respiratory morbidity (CRM) is common in patients with a history of repaired congenital esophageal atresia, typically associated with tracheoesophageal fistula (EA/TEF). EA/TEF patients are at high risk of having aspiration, and retrospective studies have associated CRM with both recurrent aspiration and atopy. However, studies evaluating the association between CRM in this population and either aspiration or atopy have reported conflicting results. Furthermore, CRM in this population may be due to other related conditions as well, such as tracheomalacia and/or recurrent infections. Aspiration is difficult to confirm, short of lung biopsy. Moreover, even within the largest evidence base assessing the association between CRM and aspiration, which has evaluated the potential relationship between gastroesophageal reflux and asthma, findings are contradictory. Studies attempting to relate CRM to prior aspiration events may inadequately estimate the frequency and severity of previous aspiration episodes. There is convincing evidence documenting that chronic, massive aspiration in patients with repaired EA/TEF is associated with the development of bronchiectasis. While chronic aspiration is likely associated with other CRM in patients with repaired EA/TEF, this does not appear to have been confirmed by the data currently available. Prospective studies that systematically evaluate aspiration risk and allergic disease in patients with repaired EA/TEF and document subsequent CRM will be needed to clarify the causes of CRM in this population. Given the prevalence of CRM, patients with repaired EA/TEF should ideally receive regular follow-up by multidisciplinary teams with expertise in this condition, throughout both childhood and adulthood.

  2. Toxic shock syndrome due to community-acquired methicillin-resistant Staphylococcus aureus infection: Two case reports and a literature review in Japan

    OpenAIRE

    Sada, Ryuichi; Fukuda, Saori; Ishimaru, Hiroyasu

    2017-01-01

    Community-acquired methicillin-resistant Staphylococcus aureus has been spreading worldwide, including in Japan. However, few cases of toxic shock syndrome caused by Community-acquired methicillin-resistant Staphylococcus aureus have been reported in Japan. We report 2 cases, in middle-aged women, of toxic shock syndrome due to Community-acquired methicillin-resistant Staphylococcus aureus via a vaginal portal of entry. The first patient had used a tampon and the second patient had vaginitis ...

  3. Fanconi syndrome

    Science.gov (United States)

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  4. GEAR UP Aspirations Project Evaluation

    Science.gov (United States)

    Trimble, Brad A.

    2013-01-01

    The purpose of this study was to conduct a formative evaluation of the first two years of the Gaining Early Awareness and Readiness for Undergraduate Programs (GEAR UP) Aspirations Project (Aspirations) using a Context, Input, Process, and Product (CIPP) model so as to gain an in-depth understanding of the project during the middle school…

  5. Budd-Chiari syndrome due to prothrombotic disorder: mid-term patency and efficacy of endovascular stents

    Energy Technology Data Exchange (ETDEWEB)

    Pelage, Jean-Pierre; Denys, Alban; Sibert, Annie; Menu, Yves [Department of Radiology, Hopital Beaujon, AP-HP, 100 Boulevard du General Leclerc, 92110 Clichy (France); Valla, Dominique [Department of Hepatology, Hopital Beaujon, AP-HP, 100 Boulevard du General Leclerc, 92110 Clichy (France); Sauvanet, Alain; Belghiti, Jacques [Department of Surgery, Hopital Beaujon, AP-HP, 100 Boulevard du General Leclerc, 92110 Clichy (France)

    2003-02-01

    Our objective was to evaluate efficacy and patency of metallic stent placement for symptomatic Budd-Chiari syndrome (BCS) due to prothrombotic disorders. Eleven patients with proved BCS due to prothrombotic disorders were referred for endovascular treatment because of refractory ascites (n=9), abdominal pain (n=8), jaundice (n=6), and/or gastrointestinal bleeding (n=4). Stents were inserted for stenosed hepatic vein (n=7), inferior vena cava (n=2), or mesenterico-caval shunt (n=2). Clinical efficacy and stent patency was evaluated by clinical and Doppler follow-up. After a mean follow-up of 21 months, 6 patients had fully patent stents without reintervention (primary stent patency: 55%). Two patients with hepatic vein stenosis had stent thrombosis and died 4 months after procedure. Restenosis occurred in 3 cases (2 hepatic vein and 1 mesenterico-caval shunt stenosis) and were successfully treated by balloon angioplasty (n=2) and addition of new stents (n=1) leading to a 82% secondary stent patency. Of 9 patients with patent stent, 7 were asymptomatic (77%) at the end of the study. Stent placement is a safe and effective procedure to control of symptomatic BCS. Prothrombotic disorder does not seem to jeopardize patency in anticoagulated patients. (orig.)

  6. Severe Cushing’s syndrome due to small cell prostate carcinoma: a case and review of literature

    Directory of Open Access Journals (Sweden)

    M S Elston

    2017-07-01

    Full Text Available Cushing’s syndrome (CS due to ectopic adrenocorticotrophic hormone (ACTH is associated with a variety of tumours most of which arise in the thorax or abdomen. Prostate carcinoma is a rare but important cause of rapidly progressive CS. To report a case of severe CS due to ACTH production from prostate neuroendocrine carcinoma and summarise previous published cases. A 71-year-old male presented with profound hypokalaemia, oedema and new onset hypertension. The patient reported two weeks of weight gain, muscle weakness, labile mood and insomnia. CS due to ectopic ACTH production was confirmed with failure to suppress cortisol levels following low- and high-dose dexamethasone suppression tests in the presence of a markedly elevated ACTH and a normal pituitary MRI. Computed tomography demonstrated an enlarged prostate with features of malignancy, confirmed by MRI. Subsequent prostatic biopsy confirmed neuroendocrine carcinoma of small cell type and conventional adenocarcinoma of the prostate. Adrenal steroidogenesis blockade was commenced using ketoconazole and metyrapone. Complete biochemical control of CS and evidence of disease regression on imaging occurred after four cycles of chemotherapy with carboplatin and etoposide. By the sixth cycle, the patient demonstrated radiological progression followed by recurrence of CS and died nine months after initial presentation. Prostate neuroendocrine carcinoma is a rare cause of CS that can be rapidly fatal, and early aggressive treatment of the CS is important. In CS where the cause of EAS is unable to be identified, a pelvic source should be considered and imaging of the pelvis carefully reviewed.

  7. Guyon's canal syndrome due to tortuous ulnar artery with DeQuervain stenosing tenosynovitis, ligamentous injuries and dorsal intercalated segmental instability syndrome, a rare presentation: a case report

    OpenAIRE

    Zeeshan, Muhammad; Ahmed, Farhan; Kanwal, Darakhshan; Khalid, Qazi Saad Bin; Ahmed, Muhammad Nadeem

    2009-01-01

    The Guyon's canal syndrome is a well known clinical entity and may have significant impact on patient's quality of life. We report a case of 43-year-old male who presented with complaints of pain and numbness in right hand and difficulty in writing for past one month. On imaging diagnosis of Guyon's canal syndrome because of tortuous ulnar artery was made with additional findings of DeQuervain's stenosing tenosynovitis and dorsal intercalated segmental instability syndrome with ligamentous in...

  8. Hyperthyroidism due to thyroid-stimulating hormone secretion after surgery for Cushing's syndrome: a novel cause of the syndrome of inappropriate secretion of thyroid-stimulating hormone.

    Science.gov (United States)

    Tamada, Daisuke; Onodera, Toshiharu; Kitamura, Tetsuhiro; Yamamoto, Yuichi; Hayashi, Yoshitaka; Murata, Yoshiharu; Otsuki, Michio; Shimomura, Iichiro

    2013-07-01

    Hyperthyroidism with the syndrome of inappropriate secretion of TSH (SITSH) occurred by a decrease in hydrocortisone dose after surgery for Cushing's syndrome. This is a novel cause of SITSH. The aim of this study was to describe and discuss 2 cases of SITSH patients that were found after surgery for Cushing's syndrome. We also checked whether SITSH occurred in 7 consecutive patients with Cushing's syndrome after surgery. A 45-year-old Japanese woman with ACTH-independent Cushing's syndrome and a 37-year-old Japanese man with ACTH-dependent Cushing's syndrome presented SITSH caused by insufficient replacement of hydrocortisone for postoperative adrenal insufficiency. When the dose of hydrocortisone was reduced to less than 20 mg/d within 18 days after surgery, SITSH occurred in both cases. We examined whether the change of the hydrocortisone dose induced the secretion of TSH. Free T₃ and TSH were normalized by the hydrocortisone dose increase of 30 mg/d, and these were elevated by the dose decrease of 10 mg/d. We also checked TSH and thyroid hormone levels of the 7 consecutive patients with Cushing's syndrome after surgery. Six (66.6 %) of 9 patients showed SITSH. This is the first report that insufficient replacement of hydrocortisone after surgery for Cushing's syndrome caused SITSH. Hyperthyroidism by SITSH as well as adrenal insufficiency can contribute to withdrawal symptoms of hydrocortisone replacement. We need to consider the possibility of SITSH for the pathological evaluation of withdrawal syndrome of hydrocortisone replacement.

  9. Guyon's canal syndrome due to tortuous ulnar artery with DeQuervain stenosing tenosynovitis, ligamentous injuries and dorsal intercalated segmental instability syndrome, a rare presentation: a case report.

    Science.gov (United States)

    Zeeshan, Muhammad; Ahmed, Farhan; Kanwal, Darakhshan; Khalid, Qazi Saad Bin; Ahmed, Muhammad Nadeem

    2009-12-23

    The Guyon's canal syndrome is a well known clinical entity and may have significant impact on patient's quality of life. We report a case of 43-year-old male who presented with complaints of pain and numbness in right hand and difficulty in writing for past one month. On imaging diagnosis of Guyon's canal syndrome because of tortuous ulnar artery was made with additional findings of DeQuervain's stenosing tenosynovitis and dorsal intercalated segmental instability syndrome with ligamentous injury and subsequently these were confirmed on surgery.Although it is a rare syndrome, early diagnosis and treatment prevents permanent neurological deficits and improve patient's quality of life.

  10. New therapeutic options in meconium aspiration syndrome

    OpenAIRE

    Colvero, Mauricio Obal; Colvero, Aline Pieruccini; Fiori, Renato Machado; Garcia, Pedro Celiny Ramos

    2006-01-01

    OBJETIVOS: revisar a literatura sobre a síndrome de aspiração de mecônio (SAM), enfocando aspectos clínicos, fisiopatológicos e abordagem terapêutica, com destaque ao uso do surfactante e lavado broncoalveolar. MÉTODOS: revisão baseada em artigos publicados na MEDLINE, SCIELO e resumos de congressos internacionais de 1988 a 2004, incluindo ensaios randomizados ou quasi-randomizados, estudos caso-controle e metanálises. RESULTADOS: devido à comprovação da inibição do surfactante na SAM, houve ...

  11. Traumatic brain injury is unlikely precipitating Leigh syndrome due to the GJB2 mutation c.35delG

    Directory of Open Access Journals (Sweden)

    Josef Finsterer

    2017-06-01

    Full Text Available With interest we read the article by Ashrafi et al. about a 14-year-old female who is regarded to have developed Leigh syndrome (LS after traumatic brain injury (TBI. We have the following comments and concerns:We do not agree with the notion that traumatic brain injury was the precipitating factor for LS. The patient had a history of hypoacusis, which is a typical clinical manifestation of a mitochondrial disorder (MID. Hypoacusis obviously had developed long before the TBI. Additionally, the patient was diagnosed with neuropathy of the peripheral nerves two months after TBI. It is rather unlikely that neuropathy was triggered by TBI and more likely it was already present before the trauma. Thus, the initial manifestations of LS in the presented patient were most likely hypoacusis followed by neuropathy and TBI only might have triggered the seizure but not the MID. Why was the patient put on phenytoin, which is well-known to be mitochondrion-toxic? Phenytoin may worsen epilepsy and MID in general and it is conceivable that in fact phenytoin was responsible for worsening of the phenotype and not the TBI. In a 16-year-old female with MELAS syndrome due to the mutation m.3243A>G, phenytoin caused intestinal pseudo-obstruction one month after intravenous phenytoin for status epilepticus. In a patient with Kearns-Sayre syndrome phenytoin decreased cerebrospinal fluid (CSF folate levels. In rat hepatocytes, phenytoin increased reactive oxygen species (ROS formation, decreased intracellular reduced glutathione, increased intracellular oxidised glutathione, and enhanced lipid peroxidation and mitochondrial damage. In a hepatic microsomal system, phenytoin decreased state-3 respiration, ATP synthesis, and the mitochondrial membrane potential. In this model, phenytoin increased state-4 respiration, impaired Ca++-uptake and release, and inhibited Ca++-induced swelling. It would be interesting to know how the GJB2 mutation was detected. Was whole exome or

  12. The social contagion of aspirations

    DEFF Research Database (Denmark)

    Folmann, Birgitte

    2017-01-01

    among young men in Northern Uganda. The potential social contagion of aspirations is unfolded to provide a deeper understanding of social processes not only as dynamics between people but also as processes between people and their surroundings in a society which is subject to rapid change...... succeed, making some progress along this path seems important and fuels their ongoing aspiration for the good life. Having a ‘life style’ means being able to choose and consume, and getting a ‘life style’ reflects an aspiration for social mobility. Taking the emic approach helps to explain how social...... contagion occurs and how health-related practices are formed....

  13. A Gut Gone to Pot: A Case of Cannabinoid Hyperemesis Syndrome due to K2, a Synthetic Cannabinoid

    Directory of Open Access Journals (Sweden)

    Anene Ukaigwe

    2014-01-01

    Full Text Available Cannabinoid Hyperemesis Syndrome (CHS was first described in 2004. Due to its novelty, CHS is often unrecognized by clinicians leading to expensive workup of these patients with cyclical symptoms. It may take up to 9 years to diagnose CHS. CHS is characterized by cyclical nausea and vomiting, abdominal pain, and an unusual compulsion to take hot showers in the presence of chronic use of cannabinoids. Cannabicyclohexanol is a synthetic cannabinoid, popularly known as K2 spice. It is a popular marijuana alternative among teenagers and young adults since it is readily available as herbal incense. Unlike marijuana, many users know that K2 is not detected in conventional urine drug screens, allowing those users to conceal their intake from typical detection methods. Serum or urine gas chromatography mass spectrophotometry is diagnostic, though not widely available. Thus, it is imperative for clinicians to recognize CHS, even with negative UDS, to provide cost-effective care. We present a 38-year-old man with a 10-year history of cannabis, and 1-year history of K2 abuse admitted with 1-week history of episodes of nausea, vomiting of clear fluids, and epigastric discomfort. Symptoms are relieved only by hot showers. Extensive laboratory, radiologic, and endoscopic evaluation was unrevealing. CHS was diagnosed, based on proposed criteria by Simonetti et al.

  14. Evolution of Choroidal Neovascularization due to Presumed Ocular Histoplasmosis Syndrome on Multimodal Imaging including Optical Coherence Tomography Angiography

    Directory of Open Access Journals (Sweden)

    T. Y. Alvin Liu

    2018-01-01

    Full Text Available A 37-year-old Caucasian woman presented with acute decrease in central vision in her right eye and was found to have subfoveal choroidal neovascularization (CNV due to presumed ocular histoplasmosis syndrome (POHS. Her visual acuity improved from 20/70 to 20/20 at her 6-month follow-up, after 3 consecutive monthly intravitreal bevacizumab injections were initiated at her first visit. Although no CNV activity was seen on fluorescein angiography (FA or spectral-domain optical coherence tomography (SD-OCT at her 2-month, 4-month, and 6-month follow-up visits, persistent flow in the CNV lesion was detected on optical coherence tomography angiography (OCTA. OCTA shows persistent vascular flow as well as changes in vascular flow in CNV lesions associated with POHS, indicating the continued presence of patent vessels and changes in these CNV lesions, even when traditional imaging of the lesion with OCT and FA indicates stability of the lesion with no disease activity. Additional cases with longitudinal follow-up are needed to assess how OCTA should be incorporated into clinical practice.

  15. Habits, aspirations and endogenous fertility

    OpenAIRE

    Luciano Fanti

    2012-01-01

    Motivated by the increasing literature on endogenous preferences as well as on endogenous fertility, this paper investigates the implications of the interaction of the endogenous determination of the number of children with habit and aspiration formation in an OLG model. In contrast with the previous literature, we show that greater aspirations may lead to higher savings, and more interestingly, always increase the neoclassical economic growth.

  16. Comparison of the CDC Backpack aspirator and the Prokopack aspirator for sampling indoor- and outdoor-resting mosquitoes in southern Tanzania

    Directory of Open Access Journals (Sweden)

    Mgando Joseph

    2011-06-01

    Full Text Available Abstract Background Resting mosquitoes can easily be collected using an aspirating device. The most commonly used mechanical aspirator is the CDC Backpack aspirator. Recently, a simple, and low-cost aspirator called the Prokopack has been devised and proved to have comparable performance. The following study evaluates the Prokopack aspirator compared to the CDC backpack aspirator when sampling resting mosquitoes in rural Tanzania. Methods Mosquitoes were sampled in- and outdoors of 48 typical rural African households using both aspirators. The aspirators were rotated between collectors and households in a randomized, Latin Square design. Outdoor collections were performed using artificial resting places (large barrel and car tyre, underneath the outdoor kitchen (kibanda roof and from a drop-net. Data were analysed with generalized linear models. Results The number of mosquitoes collected using the CDC Backpack and the Prokopack aspirator were not significantly different both in- and outdoors (indoors p = 0.735; large barrel p = 0.867; car tyre p = 0.418; kibanda p = 0.519. The Prokopack was superior for sampling of drop-nets due to its smaller size. The number mosquitoes collected per technician was more consistent when using the Prokopack aspirator. The Prokopack was more user-friendly: technicians preferred using the it over the CDC backpack aspirator as it weighs considerably less, retains its charge for longer and is easier to manoeuvre. Conclusions The Prokopack proved in the field to be more advantageous than the CDC Backpack aspirator. It can be self assembled using simple, low-cost and easily attainable materials. This device is a useful tool for researchers or vector-control surveillance programs operating in rural Africa, as it is far simpler and quicker than traditional means of sampling resting mosquitoes. Further longitudinal evaluations of the Prokopack aspirator versus the gold standard pyrethrum spray catch for indoor resting

  17. Thalidomide for treatment of gastrointestinal bleedings due to angiodysplasia : a case report in acquired von Willebrand syndrome and review of the literature

    NARCIS (Netherlands)

    Engelen, E T; van Galen, K P M; Schutgens, R E G

    INTRODUCTION: Acquired von Willebrand syndrome is a rare bleeding disorder and treatment of the associated gastrointestinal (GI) bleeding due to angiodysplasia is challenging. AIM: The aim of this study was to present a new case on the successful use of thalidomide in a patient with acquired von

  18. Mycoplasma pneumoniae preceding Lemierre's syndrome due to Fusobacterium nucleatum complicated by acute Epstein-Barr virus (EBV) infectious mononucleosis in an immunocompetent host.

    Science.gov (United States)

    Klein, Natalie C; Petelin, Andrew; Cunha, Burke A

    2013-01-01

    We report an unusual case of Lemierre's syndrome due to a rare species of Fusobacterium, that is, Fusobacterium nucleatum preceded by Mycoplasma pneumoniae pharyngitis and followed later by Epstein-Barr virus infectious mononucleosis. Copyright © 2013 Elsevier Inc. All rights reserved.

  19. Extramedullary plasmacytoma. Fine needle aspiration findings.

    Science.gov (United States)

    Kumar, P V; Owji, S M; Talei, A R; Malekhusseini, S A

    1997-01-01

    To determine the role of fine needle aspiration cytology in the diagnosis of extramedullary plasmacytoma. The study group consisted of 13 patients with palpable masses at various sites. The tumors were aspirated for cytologic study. The smears revealed groups of mature and immature plasma cells at various stages of maturation. Mature plasma cells showed an eccentric nucleus and abundant, deep, basophilic cytoplasm with a paranuclear halo. Plasmablasts (immature plasma cells) showed a prominent, eccentric nucleus with single, large nucleolus and abundant, deep, basophilic cytoplasm with no paranuclear halo. Binucleate and multinucleate forms were also seen quite often. The tumors were excised, and the histologic sections confirmed the cytologic diagnosis. All the patients received radiotherapy. One patient (18 years old) developed recurrence and died due to extensive infiltration into the maxilla and mandible. Two patients (57 and 62 years) developed multiple myeloma one to two years after the excision of tumors, and both died two to three months later. The remaining 10 patients were alive and well at this writing. The smears from all 13 patients were diagnosed as extramedullary plasmacytomas by fine needle aspiration cytology.

  20. Single-Session CT-Guided Percutaneous Microwave Ablation of Bilateral Adrenal Gland Hyperplasia Due to Ectopic ACTH Syndrome

    International Nuclear Information System (INIS)

    Sarma, Asha; Shyn, Paul B.; Vivian, Mark A.; Ng, Ju-Mei; Tuncali, Kemal; Lorch, Jorchen H.; Zaheer, Sarah N.; Gordon, Michael S.; Silverman, Stuart G.

    2015-01-01

    Bilateral adrenalectomy is currently the only available treatment for adrenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome (ectopic ACTH syndrome) that is refractory to pharmacologic therapy. We describe two patients with refractory ectopic ACTH syndrome who were treated with CT-guided percutaneous microwave ablation of both hyperplastic adrenal glands in a single session: One was not a surgical candidate, and the other had undergone unsuccessful surgery. Following the procedure, both patients achieved substantial decreases in serum cortisol, symptomatic improvement, and decreased anti-hypertensive medication requirements

  1. Single-Session CT-Guided Percutaneous Microwave Ablation of Bilateral Adrenal Gland Hyperplasia Due to Ectopic ACTH Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Sarma, Asha, E-mail: ashasarma@gmail.com; Shyn, Paul B., E-mail: pshyn@partners.org [Brigham and Women’s Hospital, Department of Radiology (United States); Vivian, Mark A. [University of Manitoba, Department of Radiology (Canada); Ng, Ju-Mei [Brigham and Women’s Hospital, Department of Anesthesiology (United States); Tuncali, Kemal [Brigham and Women’s Hospital, Department of Radiology (United States); Lorch, Jorchen H. [Dana Farber Cancer Institute, Department of Medicine (United States); Zaheer, Sarah N.; Gordon, Michael S. [Brigham and Women’s Hospital, Department of Endocrinology (United States); Silverman, Stuart G. [Brigham and Women’s Hospital, Department of Radiology (United States)

    2015-10-15

    Bilateral adrenalectomy is currently the only available treatment for adrenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome (ectopic ACTH syndrome) that is refractory to pharmacologic therapy. We describe two patients with refractory ectopic ACTH syndrome who were treated with CT-guided percutaneous microwave ablation of both hyperplastic adrenal glands in a single session: One was not a surgical candidate, and the other had undergone unsuccessful surgery. Following the procedure, both patients achieved substantial decreases in serum cortisol, symptomatic improvement, and decreased anti-hypertensive medication requirements.

  2. Goodpasture's Syndrome due to IgA in a patient with clinical diagnosis of Henoch Schonlein's purpura

    International Nuclear Information System (INIS)

    Restrepo Cesar A

    2005-01-01

    This is a case of a 23 year old woman with an initial clinical syndrome compatible with glomerulonephritis of uncertain origin, who later showed lesions of purpuric rash characteristics of Henoch- Schonlein Purpura and then complicated with a pulmonary hemorrhage and a rapidly progressive glomerulonephritis, with a mixed lung-kidney syndrome. The renal biopsy showed presence of linear deposits of immunoglobulin A and extra capillary proliferative changes. The case was concluded corresponding to Goodpasture's syndrome for antibodies antiglomerular basement membrane of the type of IgA in the context of a Henoch-Schonlein Purpura.

  3. Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene.

    Science.gov (United States)

    Koga, Yasutoshi; Povalko, Nataliya; Katayama, Koujyu; Kakimoto, Noriko; Matsuishi, Toyojiro; Naito, Etsuo; Tanaka, Masashi

    2012-02-01

    Leigh syndrome (LS) is a progressive untreatable degenerating mitochondrial disorder caused by either mitochondrial or nuclear DNA mutations. A patient was a second child of unconsanguineous parents. On the third day of birth, he was transferred to neonatal intensive care units because of severe lactic acidosis. Since he was showing continuous lactic acidosis, the oral supplementation of dichloroacetate (DCA) was introduced on 31st day of birth at initial dose of 50 mg/kg, followed by maintenance dose of 25 mg/kg/every 12 h. The patient was diagnosed with LS due to a point mutation of an A-C at nucleotide 599 in exon 6 in the pyruvate dehydrogenase E1α gene, resulting in the substitution of aspartate for threonine at position 200 (N200T). Although the concentrations of lactate and pyruvate in blood were slightly decreased, his clinical conditions were deteriorating progressively. In order to overcome the mitochondrial or cytosolic energy crisis indicated by lactic acidosis as well as clinical symptoms, we terminated the DCA and administered 0.5 g/kg/day TID of sodium pyruvate orally. We analyzed the therapeutic effects of DCA or sodium pyruvate in the patient, and found that pyruvate therapy significantly decreased lactate, pyruvate and alanine levels, showed no adverse effects such as severe neuropathy seen in DCA, and had better clinical response on development and epilepsy. Though the efficacy of pyruvate on LS will be evaluated by randomized double-blind placebo-controlled study design in future, pyruvate therapy is a possible candidate for therapeutic choice for currently incurable mitochondrial disorders such as LS. Copyright © 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  4. β-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome.

    Science.gov (United States)

    Shang, Linshan; Hua, Haiqing; Foo, Kylie; Martinez, Hector; Watanabe, Kazuhisa; Zimmer, Matthew; Kahler, David J; Freeby, Matthew; Chung, Wendy; LeDuc, Charles; Goland, Robin; Leibel, Rudolph L; Egli, Dieter

    2014-03-01

    Wolfram syndrome is an autosomal recessive disorder caused by mutations in WFS1 and is characterized by insulin-dependent diabetes mellitus, optic atrophy, and deafness. To investigate the cause of β-cell failure, we used induced pluripotent stem cells to create insulin-producing cells from individuals with Wolfram syndrome. WFS1-deficient β-cells showed increased levels of endoplasmic reticulum (ER) stress molecules and decreased insulin content. Upon exposure to experimental ER stress, Wolfram β-cells showed impaired insulin processing and failed to increase insulin secretion in response to glucose and other secretagogues. Importantly, 4-phenyl butyric acid, a chemical protein folding and trafficking chaperone, restored normal insulin synthesis and the ability to upregulate insulin secretion. These studies show that ER stress plays a central role in β-cell failure in Wolfram syndrome and indicate that chemical chaperones might have therapeutic relevance under conditions of ER stress in Wolfram syndrome and other forms of diabetes.

  5. Aortic valve-sparing operation after correction of heart displacement due to pectus excavatum using Nuss procedure in a Marfan syndrome patient.

    Science.gov (United States)

    Fukunaga, Naoto; Yuzaki, Mitsuru; Hamakawa, Hiroshi; Nasu, Michihiro; Takahashi, Yutaka; Okada, Yukikatsu

    2012-01-01

    Cardiovascular surgery in the setting of chest wall deformities is a clinical challenge. Pectus excavatum, for example, can cause heart displacement to the left thoracic cavity, following the poor operative field. This report highlights a case in which a successful aortic valve-sparing operation via conventional median sternotomy after correction of the heart displacement due to pectus excavatum using Nuss procedure in Marfan syndrome. This technique can be one surgical option in Marfan syndrome patients with pectus excavatum and thoracic aortic aneurysm under close follow up.

  6. Hyponatremia in aneurysmal subarachnoid hemorrhage is due to the syndrome of inappropriate antidiuresis and acute glucocorticoid deficiency

    LENUS (Irish Health Repository)

    Hannon, M J

    2011-06-01

    Hyponatraemia is the most common electrolyte abnormality following subarachnoid haemorrhage (SAH) and contributes to increased morbidity and mortality. Retrospective data suggests that the syndrome of inappropriate diuresis (SIAD) is the most common cause of hyponatraemia in SAH, though cerebral salt wasting has been postulated by some workers to be the predominant abnormality. Data which has shown acute glucocorticoid deficiency following SAH has suggested that some cases of euvolaemic hyponatraemia may also be caused by this mechanism.We prospectively studied the hormonal and haemodynamic influences involved in the development of hyponatraemia in 100 patients (61% female, median age 53 (range 16-82)) with non-traumatic aneurysmal SAH. Each patient had plasma sodium (pNa), urea, osmolality, glucose and 0900h cortisol (PC), and urinary sodium and osmolality measured on days 1, 2, 3, 4, 6, 8, 10 and 12 following SAH. Fluid balance and haemodynamic parameters were recorded daily. Results were compared with 15 patients admitted to ITU following vascular surgery. A PC<300nmol\\/L in a patient in ITU was regarded clinically as inappropriately low.49% of patients developed hyponatraemia (pNa<135 mmol\\/L), including 14% who developed clinically significantly hyponatraemia (pNa<130 mmol\\/L). 36\\/49 (73.4%) developed hyponatraemia between days 1 and 3 post SAH. The median duration of hyponatraemia was 3 days (range 1–10 days).In 35\\/49 (71.4%), hyponatraemia was due to SIAD as defined by standard diagnostic criteria. 14% of SAH patients had at least one PC<300nmol\\/L; 5 of these (35.7%) developed hyponatraemia. In 4 patients hyponatraemia was preceded by acute cortisol deficiency and responded to hydrocortisone treatment. In contrast, all controls had PC>500 nmol\\/L on day 1, and >300 nmol on days 3–12. There were no cases of cerebral salt wasting. There was no relationship between the incidence of hyponatraemia and the defined anatomical territory or severity of

  7. Papular-purpuric "gloves and socks" syndrome due to parvovirus B19: report of a case with unusual features

    Directory of Open Access Journals (Sweden)

    PASSONI Luiz Fernando C.

    2001-01-01

    Full Text Available We present a case of papular-purpuric "gloves and socks" syndrome (PPGSS in an adult male with acute parvovirus B19 infection. The patient displayed the classical features of fever, oral lesions, and purpura on hands and feet, but the purpuric lesions on the feet evolved to superficial skin necrosis, a feature not previously described in this syndrome. We believe this is the first reported case of PPGSS occurring in Brazil.

  8. Pulmonary Complications of Gastric Fluid and Bile Salts Aspiration, an Experimental Study in Rat

    OpenAIRE

    Samareh Fekri, Mitra; Poursalehi, Hamid Reza; Najafipour, Hamid; Dabiri, Shahriar; Shokoohi, Mostafa; Siahposht Khacheki, Ali; Shahrokhi, Nader; Malekpour Afshar, Reza; Lashkarizadeh, Mohammad Reza

    2013-01-01

    Objective(s): Gastroesophageal Reflux Disease (GERD) is one of the most common digestive disorders that frequently lead to pulmonary complications due to gastric fluid aspiration. In the present experimental study, chronic aspiration of gastric fluid, its components and bile salts in rat lung was performed to find out the main factor(s) causing pulmonary complications of gastric fluid aspiration. Materials and Methods: Forty eight male rats weighted 250-300 g were selected in six groups. Afte...

  9. Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe).

    Science.gov (United States)

    Finsterer, Josef; Stöllberger, Claudia; Wollmann, Eva; Dertinger, Susanne; Laccone, Franco

    2016-09-01

    Carvajal syndrome is an autosomal dominant or autosomal recessive disorder, manifesting with dilated cardiomyopathy, woolly hair, and palmoplantar keratoma. Additional manifestations can be occasionally found. Carvajal syndrome may be due to mutations in the desmocollin-2, desmoplakin, or plakophilin-2 gene. We report a family with Carvajal syndrome which additionally presented with hypoacusis, noncompaction, recurrent pharyngeal infections, oligodontia, and recurrent diarrhoea. Father and brother were also affected and had died suddenly, the father despite implantation of a cardioverter defibrillator (ICD). Genetic studies revealed the novel pathogenic mutation c.1678A > T in the desmoplakin gene resulting in the amino acid change Ile to Phe at position 560 in the index case and her brother. The index case underwent ICD implantation recently. Phenotypic manifestations of Carvajal syndrome are even broader than so far anticipated, the number of mutations in the desmoplakin gene responsible for Carvajal syndrome is still increasing, and these patients require implantation of an ICD as soon as their diagnosis is established.

  10. Symptom Severity Following Rifaximin and the Probiotic VSL#3 in Patients with Chronic Pelvic Pain Syndrome (Due to Inflammatory Prostatitis) Plus Irritable Bowel Syndrome

    OpenAIRE

    Vicari, Enzo; Salemi, Michele; Sidoti, Giuseppe; Malaguarnera, Mariano; Castiglione, Roberto

    2017-01-01

    This study investigated the effects of long-term treatment with rifaximin and the probiotic VSL#3 on uro-genital and gastrointestinal symptoms in patients with chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) plus diarrhoea-predominant irritable bowel syndrome (D-IBS) compared with patients with D-IBS alone. Eighty-five patients with CP/CPPS (45 with subtype IIIa and 40 with IIIb) plus D-IBS according to the Rome III criteria and an aged-matched control-group of patients with D-IBS ...

  11. Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism.

    Science.gov (United States)

    Dragović, Tamara; Đuran, Zorana; Jelić, Svetlana; Marinković, Dejan; Kiković, Saša; Kuzmić-Janković, Snežana; Hajduković, Zoran

    2016-10-01

    Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH) secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.

  12. Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism

    Directory of Open Access Journals (Sweden)

    Dragović Tamara

    2016-01-01

    Full Text Available Introduction. Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. Case report. We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Conclusion. Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.

  13. A case of osteomalacia due to deranged mineral balance caused by saccharated ferric oxide and short-bowel syndrome: A case report.

    Science.gov (United States)

    Nomoto, Hiroshi; Miyoshi, Hideaki; Nakamura, Akinobu; Nagai, So; Kitao, Naoyuki; Shimizu, Chikara; Atsumi, Tatsuya

    2017-09-01

    Saccharated ferric oxide has been shown to lead to elevation of fibroblast growth factor 23, hypophosphatemia, and, consequently, osteomalacia. Moreover, mineral imbalance is often observed in patients with short-bowel syndrome to some degree. A 62-year-old woman with short-bowel syndrome related with multiple resections of small intestines due to Crohn disease received regular intravenous administration of saccharated ferric oxide. Over the course of treatment, she was diagnosed with tetany, which was attributed to hypocalcemia. Additional assessments of the patient revealed not only hypocalcemia, but also hypophosphatemia, hypomagnesemia, osteomalacia, and a high concentration of fibroblast growth factor 23 (314 pg/mL). We diagnosed her with mineral imbalance-induced osteomalacia due to saccharated ferric oxide and short-bowel syndrome. Magnesium replacement therapy and discontinuation of saccharated ferric oxide alone. These treatments were able to normalize her serum mineral levels and increase her bone mineral density. This case suggests that adequate evaluation of serum minerals, including phosphate and magnesium, during saccharated ferric oxide administration may be necessary, especially in patients with short-bowel syndrome.

  14. Atypical Wernicke′s syndrome sans encephalopathy with acute bilateral vision loss due to post-chiasmatic optic tract edema

    Directory of Open Access Journals (Sweden)

    Soaham Dilip Desai

    2014-01-01

    Full Text Available A middle aged male presented with acute bilateral vision loss, 4 weeks after undergoing gastric bypass surgery for gastric carcinoma. He had normal sensorium, fundoscopy, normal pupillary reaction to light, but had mild opthalmoparesis and nystagmus with ataxia. Magnetic resonance imaging of the brain revealed post-chiasmatic optic tract edema along with other classical features of Wernicke′s syndrome. Thiamine supplementation leads to complete resolution of clinical as well as imaging findings. In appropriate clinical settings, a high index of suspicion and early treatment are essential for managing Wernicke′s syndrome even in patients with atypical clinical and imaging presentation.

  15. [Congenital ectropion of the upper eyelids due to an anomaly of the eyelids in down's syndrome (author's transl)].

    Science.gov (United States)

    Hennighausen, U; Schmidt-Martens, F W; Reim, M

    1978-05-01

    A 5-months-old female baby with Down's Syndrome developed an intermittent spastic ectropion of the upper eyelids. The reasons for this are thought to be the flaccidity of the connective tissue, which is typical in Down's Syndrome, and a little anomaly of the eyelids, the tarsus was too short horizontally and very weak and the upper eyelids were somewhat larger than normal and elongated. Suturing Bangerter's lid-sheets on the upper eyelids for 15 days resulted in a scarring of the tarsus with the lax connective tissue of the upper eyelids. The ectropion disappeared and did not recur.

  16. [Value of aspiration biopsy of subcutaneous fat in amyloidosis].

    Science.gov (United States)

    Ponce, P; Carvalho, F; Coelho, A

    1986-01-01

    Fine-needle aspiration of subcutaneous fat (FNAF) was performed in 24 patients, 12 with previously diagnosed amyloidosis presenting with proteinuria or nephrotic syndrome, and 12 presenting a nephrotic syndrome without amyloidosis on renal biopsy. FNAF was positive in 10 of 12 patients with amyloidosis (sensitivity: 83%) and negative in 12 of 12 patients with non-amyloid nephrotic syndrome (specificity: 100%). Considering a 2.5 to 10% prevalence of amyloidosis in adult patients with proteinuria or nephrotic syndrome, a positive FNAF is diagnostic of amyloidosis, and a negative FNAF rules out the diagnosis with a probability of 98 to 99%. FNAF is a simple and safe method which can be useful in patients who cannot undergo a renal biopsy.

  17. Endotracheal tubes and fluid aspiration: an in vitro evaluation of new cuff technologies.

    Science.gov (United States)

    Mariyaselvam, Maryanne Z; Marsh, Lucy L; Bamford, Sarah; Smith, Ann; Wise, Matt P; Williams, David W

    2017-03-04

    Aspiration of subglottic secretions past the endotracheal tube (ETT) cuff is a prerequisite for developing ventilator-associated pneumonia (VAP). Subglottic secretion drainage (SSD) ETTs reduce aspiration of subglottic secretions and have demonstrated lower VAP rates. We compared the performance of seven SSD ETTs against a non-SSD ETT in preventing aspiration below inflated cuffs. ETTs were positioned vertically in 2 cm diameter cylinders. Four ml of a standard microbial suspension was added above inflated cuffs. After 1 h, aspiration was measured and ETTs demonstrating no leakage were subjected to rotational movement and evaluation over 24 h. Collected aspirated fluid was used to inoculate agar media and incubated aerobically at 37 °C for 24 h. The aspiration rate, volume and number of microorganisms that leaked past the cuff was measured. Experiments were repeated (×10) for each type of ETT, with new ETTs used for each repeat. Best performing ETTs were then tested in five different cylinder diameters (1.6, 1.8, 2.0, 2.2 and 2.4 cm). Experiments were repeated as above using sterile water. Volume and time taken for aspiration past the cuff was measured. Experiments were repeated (×10) for each type of ETT. Results were analysed using non-parametric tests for repeated measures. The PneuX ETT prevented aspiration past the cuff in all experiments. All other ETTs allowed aspiration, with considerable variability in performance. The PneuX ETT was statistically superior in reducing aspiration compared to the SealGuard (p aspiration across the range of diameters compared to the SealGuard (p aspiration, relating to cuff material and design. Variability in performance was likely due to the random manner in which involutional folds form in the inflated ETT cuff. The PneuX ETT was the only ETT able to consistently prevent aspiration past the cuff in all experiments.

  18. Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

    DEFF Research Database (Denmark)

    Ostergaard, Elsebet; Rodenburg, Richard J; van den Brand, Mariël

    2011-01-01

    This study investigated a girl with Leigh syndrome born to first-cousin parents of Pakistani descent with an isolated respiratory chain complex I deficiency in muscle and fibroblasts. Her early development was delayed, and from age 2 years she started losing motor abilities. Cerebral MRI showed...

  19. First case of anti-ganglioside GM1-positive Guillain-Barré syndrome due to hepatitis E virus infection

    NARCIS (Netherlands)

    Maurissen, I.; Jeurissen, A.; Strauven, T.; Sprengers, D.; de Schepper, B.

    2012-01-01

    A 51-year-old previously healthy woman presented with Guillain-Barré syndrome (GBS) and elevated liver enzymes. Further diagnostic investigations showed the presence of an acute hepatitis E infection associated with anti-ganglioside GM1 antibodies. After treatment with intravenous immunoglobulins,

  20. ACTH overexpressing pituitary hyperplasia in a patient with ectopic ACTH-syndrome due to carcinoid of the lung

    Directory of Open Access Journals (Sweden)

    Larisa Konstantinovna Dzeranova

    2015-01-01

    Full Text Available Ectopic ACTH-syndrome is the most diagnostically challenging  variant of endogenous hypercortisolism. Particularly difficult differential diagnosis of this syndrome is from Cushing's disease (CD, as currently there is no single test sufficiently accurate to differentiate accurately ectopic ACTH production from the pituitary. The main functional tests are based on the fact that the vast majority of ectopic ACTH production is autonomous and suppresses one from pituitary. But in some cases this is not observed, and then the data obtained all necessary laboratory and instrumental research evidence in favor of central genesis of CD in a patient with ACTH ectopic secretion, which can lead to inappropriate treatment. If you confirm the ectopic ACTH-syndrome, it may take quite a long time of searching for the pathological focus, as there is no sufficiently precise imaging and diagnostic method for determining the localization of ectopic source of ACTH production. Thus, the differential diagnosis of ACTH-dependent hypercortisolism and localization of the ectopic tumor is the cornerstone of early and radical treatment of patients. We present a difficult clinical case of a patient having a pituitary hyperplasia with excessive ACTH expression with primary ectopic ACTH syndrome caused by lung carcinoid.

  1. Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania

    Directory of Open Access Journals (Sweden)

    Elichilia R. Shao

    2017-01-01

    Full Text Available Obesity, mild intellectual disability, hypotonia, poor sucking, cryptorchidism in males, hypogonadism, and kyphoscoliosis are common features of Prader-Willi syndrome (PWS. We report a case who had severe respiratory complications due to extreme obesity and kyphoscoliosis, which are important causes of morbidity and mortality, and discuss management. Furthermore, this is the first molecularly confirmed PWS case in Sub-Saharan Africa outside South Africa.

  2. Percutaneous aspiration of hydatid cysts

    International Nuclear Information System (INIS)

    Hernandez, G.; Serrano, R.

    1996-01-01

    A perspective study was carried out to assess the efficacy of a combination of percutaneous aspiration plus oral albendazole to assess its efficacy as an alternative to surgery in the treatment of hydatid cyst. We performed percutaneous aspiration followed by injection of 20% hypertonic saline solution into 16 hydatid cysts in 13 patients. All the patients received oral albendazole (400 mg/12 hours) starting 2 days before and lasting until there weeks after the procedure. There were no anaphylactic reactions during or after the procedure. Follow-up included monthly ultrasound over a period ranging between 10 and 36 months. Three cysts disappeared completely; in 10 cases, the cysts cavity was replaced by a complex ultrasonographic findings, with strong signals similar to those of a pseudotumor. In another case, the aspirate was sterile and its morphology remained unchanged. In two cases, infection of the cyst ensued, requiring surgical treatment. We consider that percutaneous aspiration in combination with albendazole may prove to be a good alternative to surgery for the management of hepatic hydatid disease. (Author) 15 refs

  3. Parent and Patient Perceptions of Functional Impairment Due to Tourette Syndrome: Development of a Shortened Version of the Child Tourette Syndrome Impairment Scale.

    Science.gov (United States)

    Barfell, Kara S Francis; Snyder, Ryan R; Isaacs-Cloes, Kelly M; Garris, Jordan F; Roeckner, Alyssa R; Horn, Paul S; Guthrie, Michael D; Wu, Steve W; Gilbert, Donald L

    2017-07-01

    The Child Tourette Syndrome Impairment Scale (CTIM) rates 37 problems in school, social, and home domains separately for tics and for comorbid diagnoses. However, a shorter version would be easier to implement in busy clinics. Using published data from 85 children with Tourette syndrome, 92 controls, and parents, factor analysis was used to generate a "mini-CTIM" composed of 12 items applied to tic and comorbid diagnoses. Child- and parent-rated mini-CTIM scores were compared and correlated across raters and accounting for clinician-rated tic severity and presence of attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD). The mini-CTIM achieved domain Cronbach alphas ranging from 0.71 to 0.94 and intra-item correlation coefficients ranging from 0.84 to 0.96. The resulting scale correlated with clinician-rated tic severity and reflected the presence of ADHD and OCD. The mini-CTIM appears promising as a practical assessment tool for tic- and non-tic-related impairment in children with Tourette syndrome.

  4. A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis

    Directory of Open Access Journals (Sweden)

    Mohammad Al-Haggar

    2017-01-01

    Full Text Available Marfan syndrome (MFS, the founding member of connective tissue disorder, is an autosomal dominant disease; it is caused by a deficiency of the microfibrillar protein fibrillin-1 (FBN1 and characterized by involvement of three main systems; skeletal, ocular, and cardiovascular. More than one thousand mutations in FBN1 gene on chromosome 15 were found to cause MFS. Nephrotic syndrome (NS had been described in very few patients with MFS being attributed to membranoproliferative glomerulonephritis secondary to infective endocarditis. Focal segmental glomerulosclerosis (FSGS had been reported in NS in conjunction with MFS without confirming the diagnosis by mutational analysis of FBN1. We hereby present an Egyptian family with MFS documented at the molecular level; it showed a male proband with NS secondary to FSGS, unfortunately, we failed to make any causal link between FBN dysfunction and FSGS. In this context, we review the spectrum of renal involvements occurring in MFS patients.

  5. Aspirations of Latina adolescent suicide attempters

    OpenAIRE

    Hausmann-Stabile, Carolina; Gulbas, Lauren; Zayas, Luis H.

    2013-01-01

    Parents’ aspirations and expectations are communicated to their offspring. Children internalize their parents’ aspirations and accept some of the expectations while rejecting others, all part of the developmental process and identity-consolidation. When the aspirations and expectations of youth and parents are incongruent, the outcomes in youths’ behavior can be deleterious, such as when adolescents manifest suicidal behaviors. We examined aspirations expressed by 12 Latina adolescent suicide...

  6. Mortality Due to Porcine Reproductive and Respiratory Syndrome Virus in Immunocompromised G?ttingen Minipigs (Sus scrofa domestica)

    OpenAIRE

    Pils, Marina C; Dreckmann, Karla; Jansson, Katharina; Glage, Silke; Held, Nadine; Sommer, Wiebke; L?nger, Florian; Avsar, Murat; Warnecke, Gregor; Bleich, Andr?

    2016-01-01

    Porcine reproductive and respiratory syndrome virus (PRRSV) infection was diagnosed in 6 G?ttingen minipigs (Sus scrofa domestica) with severe interstitial pneumonia. The virus was defined as a North American (NA) subtype virus, which is common in the commercial pig population and might be derived from a widely used attenuated live-virus vaccine in Europe. The ORF5 sequence of the isolated PRRSV was 98% identical to the vaccine virus. The affected pigs were part of a lung transplantation mode...

  7. Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1.

    Science.gov (United States)

    Kim, Ahlee; Fujimoto, Masanobu; Hwa, Vivian; Backeljauw, Philippe; Dauber, Andrew

    2018-01-01

    Cholesterol side-chain cleavage enzyme (P450scc) deficiency is a rare genetic disorder causing primary adrenal insufficiency with or without a 46,XY disorder of sexual development (DSD). Herein, we report a case of the combination of primary adrenal insufficiency, a DSD (testes with female external genitalia in a setting of a 47,XXY karyotype), and Angelman syndrome. Comprehensive genetic analyses were performed, including a single nucleotide polymorphism microarray and whole-exome sequencing. In vitro studies were performed to evaluate the pathogenicity of the novel mutation that was identified by whole-exome sequencing. The patient was found to have segmental uniparental disomy (UPD) of chromosome 15 explaining her diagnosis of Angelman syndrome. Whole-exome sequencing further revealed a novel homozygous intronic variant in CYP11A1, the gene encoding P450scc, found within the region of UPD. In vitro studies confirmed that this variant led to decreased efficiency of CYP11A1 splicing. We report the first case of the combination of 2 rare genetic disorders, Angelman syndrome, and P450scc deficiency. After 20 years of diagnostic efforts, significant advances in genetic diagnostic technology allowed us to determine that these 2 disorders originate from a unified genetic etiology, segmental UPD unmasking a novel recessive mutation in CYP11A1. © 2018 S. Karger AG, Basel.

  8. Comparing effects of Beractant and Poractant alfa in decreasing mortality rate due to respiratory distress syndrome in premature infants

    Directory of Open Access Journals (Sweden)

    Saeidi R

    2011-02-01

    Full Text Available "nBackground: Exogenous natural and synthetic surfactants is a rescue treatment for respiratory distress syndrome (RDS. The goals of the study were to compare the clinical response and side-effects of two frequently used surfactants, poractant alfa (Curosurf and beractant (Survanta, for the treatment of respiratory distress syndrome in preterm infants."n "nMethods: This clinical trial study was performed during a two-year period in the Neonatal Intensive Care Unit of Ghaem Hospital in Mashhad, Iran. Sample size calculated by a 95% confidence and power of 80, included 104 premature neonates, 74 in survanta and 30 in curosurf groups. The level of statistical significance was considered to be < 0.05."n "nResults: There were no statistically significant differences between the infants treated by survanta or cursurf groups regarding their mean gestational age (30.58 Vs. 29.00 weeks and birth weight (1388 Vs. 1330 g, (p=0.3 There were also no significant differences between the two groups regarding incidences of broncho- pulmonary dysplasia (BPD (40.5% Vs. 40%, intraventricular hemorrhage (IVH grades III/IV (13.5% Vs. 13.3%, pneumothorax (both 20%, patent ductus arteriosus (PDA (28/3% Vs. 20% or death (28% Vs. 26.6% on the 28th day postpartum."n "nConclusion: This study showed that survanta and curosurf had similar therapeutic effects in the treatment of neonatal respiratory distress syndrome.

  9. Evaluation of the natural history of patients who aspirate.

    Science.gov (United States)

    Bock, Jonathan M; Varadarajan, Varun; Brawley, Mary C; Blumin, Joel H

    2017-12-01

    The natural clinical progression of aspiration to eventual pulmonary compromise is not well understood. We hypothesized that dietary modification recommendations, Penetration-Aspiration Scale (PAS) score, and dysphagia etiology would be associated with changes in time to first pulmonary event and overall survival for patients with documented aspiration on radiologic testing. This study identified a cohort of patients with detectable unsensed penetration or aspiration on videofluoroscopic swallowing study (VFSS), and followed this cohort over time for development of pulmonary events and death. We then evaluated the association of aspiration severity and dietary modification recommendations on incidence of these endpoints. Retrospective chart review. A total of 2,616 VFSS exam reports were reviewed from our institution performed between January 1, 2009 and December 31, 2010. Aspiration or unsensed penetration (PAS of 5 or greater) was detected in 564 (21.5%) of these patients, who were then included in the study cohort. Medical records were reviewed retrospectively for development of pulmonary events (pneumonia, pneumonitis, or other life-threatening pulmonary illness) and all-cause mortality for up to 54 months after initial VFSS. Univariate Kaplan-Meier analysis and multivariate Cox regression were performed for time to first pulmonary event and survival predicted by recommended diet, PAS score, and dysphagia etiology. Dysphagia etiology was highly associated with increased development of pulmonary events for some patients, especially those with generalized nonspecific dysphagia due to deconditioning or frailty (hazard ratio [HZ] vs. stroke 2.95, 95% confidence interval [CI]: 1.53-5.69, P = .001) and esophageal dysphagia (HZ: 2.66, 95% CI: 1.17-6.02, P = .019). Dysphagia etiology was also associated with increased mortality for patients with generalized nonspecific dysphagia due to deconditioning or frailty (HZ: 3.32, 95% CI: 2.0-5.52, P dysphagia is associated

  10. Desired Mobility or Satisfied Immobility? Migratory Aspirations among Knowledge Workers

    Science.gov (United States)

    Ferro, Anna

    2006-01-01

    Among the aspects discussed within the globalisation process, the international mobility of professional workers assumes considerable relevance. This paper focuses on migratory aspirations among knowledge workers within the context of economic globalisation and market restructuring in Romania. Due to a lack of literature dealing with these issues,…

  11. Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.

    Science.gov (United States)

    Gómez-Laguna, Laura; Martínez-Herrera, Alejandro; Reyes-de la Rosa, Alejandra Del Pilar; García-Delgado, Constanza; Nieto-Martínez, Karem; Fernández-Ramírez, Fernando; Valderrama-Atayupanqui, Tania Yanet; Morales-Jiménez, Ariadna Berenice; Villa-Morales, Judith; Kofman, Susana; Cervantes, Alicia; Morán-Barroso, Verónica Fabiola

    2018-01-01

    The Nance-Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and dental anomalies; most of the cases are due to NHS gene mutations on Xp22.13. Heterozygous carrier females generally present less severe features, and up to 30% of the affected males have intellectual disability. We describe two patients, mother and daughter, manifesting Nance-Horan syndrome. The cytogenetic and molecular analyses demonstrated a 46,X,t(X;1)(p22.13;q22) karyotype in each of them. No copy-number genomic imbalances were detected by high-density microarray analysis. The mother had a preferential inactivation of the normal X chromosome; expression analysis did not detect any mRNA isoform of NHS. This is the first report of Nance-Horan syndrome due to a skewed X chromosome inactivation resulting from a balanced translocation t(X;1) that disrupts the NHS gene expression, with important implications for clinical presentation and genetic counseling.

  12. Toxic shock syndrome due to community-acquired methicillin-resistant Staphylococcus aureus infection: Two case reports and a literature review in Japan.

    Science.gov (United States)

    Sada, Ryuichi; Fukuda, Saori; Ishimaru, Hiroyasu

    2017-01-01

    Community-acquired methicillin-resistant Staphylococcus aureus has been spreading worldwide, including in Japan. However, few cases of toxic shock syndrome caused by Community-acquired methicillin-resistant Staphylococcus aureus have been reported in Japan. We report 2 cases, in middle-aged women, of toxic shock syndrome due to Community-acquired methicillin-resistant Staphylococcus aureus via a vaginal portal of entry. The first patient had used a tampon and the second patient had vaginitis due to a cleft narrowing associated with vulvar lichen sclerosus. Both patients were admitted to our hospital with septic shock and severe acute kidney injury and subsequently recovered with appropriate antibiotic treatment. In our review of the literature, 8 cases of toxic shock syndrome caused by Community-acquired methicillin-resistant Staphylococcus aureus were reported in Japan. In these 8 cases, the main portals of entry were the skin and respiratory tract; however, the portal of entry of Community-acquired methicillin-resistant Staphylococcus aureus from a vaginal lesion has not been reported in Japan previously.

  13. Symptom Severity Following Rifaximin and the Probiotic VSL#3 in Patients with Chronic Pelvic Pain Syndrome (Due to Inflammatory Prostatitis Plus Irritable Bowel Syndrome

    Directory of Open Access Journals (Sweden)

    Enzo Vicari

    2017-11-01

    Full Text Available This study investigated the effects of long-term treatment with rifaximin and the probiotic VSL#3 on uro-genital and gastrointestinal symptoms in patients with chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS plus diarrhoea-predominant irritable bowel syndrome (D-IBS compared with patients with D-IBS alone. Eighty-five patients with CP/CPPS (45 with subtype IIIa and 40 with IIIb plus D-IBS according to the Rome III criteria and an aged-matched control-group of patients with D-IBS alone (n = 75 received rifaximin and VSL#3. The primary endpoints were the response rates of IBS and CP/CPPS symptoms, assessed respectively through Irritable Bowel Syndrome Severity Scoring System (IBS-SSS and The National Institute of Health Chronic Prostatitis Symptom Index (NIH-CPSI, and performed at the start of therapy (V0 and three months after (V3. In IIIa prostatitis patients, the total NIH-CPSI scores significantly (p < 0.05 decreased from a baseline mean value of 21.2 to 14.5 at V3 , as did all subscales, and in the IIIb the total NIH-CPSI score also significantly decreased (from 17.4 to 15.1. Patients with IBS alone showed no significant differences in NIH-CPSI score. At V3, significantly greater improvement in the IBS-SSS and responder rate were found in IIIa patients. Our results were explained through a better individual response at V3 in IIIa prostatitis of urinary and gastrointestinal symptoms, while mean leukocyte counts on expressed prostate secretion (EPS after prostate massage significantly lowered only in IIIa cases.

  14. Symptom Severity Following Rifaximin and the Probiotic VSL#3 in Patients with Chronic Pelvic Pain Syndrome (Due to Inflammatory Prostatitis) Plus Irritable Bowel Syndrome

    Science.gov (United States)

    Salemi, Michele; Sidoti, Giuseppe; Malaguarnera, Mariano; Castiglione, Roberto

    2017-01-01

    This study investigated the effects of long-term treatment with rifaximin and the probiotic VSL#3 on uro-genital and gastrointestinal symptoms in patients with chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) plus diarrhoea-predominant irritable bowel syndrome (D-IBS) compared with patients with D-IBS alone. Eighty-five patients with CP/CPPS (45 with subtype IIIa and 40 with IIIb) plus D-IBS according to the Rome III criteria and an aged-matched control-group of patients with D-IBS alone (n = 75) received rifaximin and VSL#3. The primary endpoints were the response rates of IBS and CP/CPPS symptoms, assessed respectively through Irritable Bowel Syndrome Severity Scoring System (IBS-SSS) and The National Institute of Health Chronic Prostatitis Symptom Index (NIH-CPSI), and performed at the start of therapy (V0) and three months after (V3). In IIIa prostatitis patients, the total NIH-CPSI scores significantly (p < 0.05) decreased from a baseline mean value of 21.2 to 14.5 at V3 , as did all subscales, and in the IIIb the total NIH-CPSI score also significantly decreased (from 17.4 to 15.1). Patients with IBS alone showed no significant differences in NIH-CPSI score. At V3, significantly greater improvement in the IBS-SSS and responder rate were found in IIIa patients. Our results were explained through a better individual response at V3 in IIIa prostatitis of urinary and gastrointestinal symptoms, while mean leukocyte counts on expressed prostate secretion (EPS) after prostate massage significantly lowered only in IIIa cases. PMID:29099760

  15. Empowering change: The effects of energy provision on individual aspirations in slum communities

    International Nuclear Information System (INIS)

    Parikh, Priti; Chaturvedi, Sankalp; George, Gerard

    2012-01-01

    This paper discusses the role of energy provision in influencing the social aspirations of people living in slums. We examine factors that influence the shift in aspirations in five slum settlements using data from 500 interviews conducted in serviced and non-serviced slums from the state of Gujarat in India. The non-serviced slums did not have access to basic services namely water, sanitation, energy, roads, solid waste and rainwater management. We find empirical evidence which suggests that when basic infrastructure provisions are met, slum dwellers shift their focus from lower order aspirations to the higher order aspirations like health, education, housing and land ownership. We argue that energy provision enhances productivity and enables slum dwellers to shift their aspirations upwards. Furthermore, we test the effect of work days lost due to illness on the relationship between higher order aspirations and aspirations for energy provision. When provision of energy is low, higher work day loss dampens higher order aspirations. For policy makers, this study highlights the critical link between the infrastructure services preferred by slum dwellers and their social aspirations for growth. - Highlights: ► We examine the role of energy provision in influencing social aspirations of people living in slums. ► 500 household interviews conducted in five Indian slum settlements used for the analysis. ► Shift in slum dwellers aspirations from non-serviced to serviced conditions examined using Herzberg’s theory. ► Link between energy provision and higher order aspirations established through a regression model. ► Policy recommendation is to encourage investment in infrastructure services as a driver for development.

  16. Effectiveness of manual therapy versus surgery in pain processing due to carpal tunnel syndrome: A randomized clinical trial.

    Science.gov (United States)

    Fernández-de-Las-Peñas, C; Cleland, J; Palacios-Ceña, M; Fuensalida-Novo, S; Alonso-Blanco, C; Pareja, J A; Alburquerque-Sendín, F

    2017-08-01

    People with carpal tunnel syndrome (CTS) exhibit widespread pressure pain and thermal pain hypersensitivity as a manifestation of central sensitization. The aim of our study was to compare the effectiveness of manual therapy versus surgery for improving pain and nociceptive gain processing in people with CTS. The trial was conducted at a local regional Hospital in Madrid, Spain from August 2014 to February 2015. In this randomized parallel-group, blinded, clinical trial, 100 women with CTS were randomly allocated to either manual therapy (n = 50), who received three sessions (once/week) of manual therapies including desensitization manoeuvres of the central nervous system, or surgical intervention (n = 50) group. Outcomes including pressure pain thresholds (PPT), thermal pain thresholds (HPT or CPT), and pain intensity which were assessed at baseline, and 3, 6, 9 and 12 months after the intervention by an assessor unaware of group assignment. Analysis was by intention to treat with mixed ANCOVAs adjusted for baseline scores. At 12 months, 95 women completed the follow-up. Patients receiving manual therapy exhibited higher increases in PPT over the carpal tunnel at 3, 6 and 9 months (all, p < 0.01) and higher decrease of pain intensity at 3 month follow-up (p < 0.001) than those receiving surgery. No significant differences were observed between groups for the remaining outcomes. Manual therapy and surgery have similar effects on decreasing widespread pressure pain sensitivity and pain intensity in women with CTS. Neither manual therapy nor surgery resulted in changes in thermal pain sensitivity. The current study found that manual therapy and surgery exhibited similar effects on decreasing widespread pressure pain sensitivity and pain intensity in women with carpal tunnel syndrome at medium- and long-term follow-ups investigating changes in nociceptive gain processing after treatment in carpal tunnel syndrome. © 2017 European Pain Federation - EFIC®.

  17. Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene.

    Directory of Open Access Journals (Sweden)

    Hans U Luder

    Full Text Available Jalili syndrome denotes a recessively inherited combination of an eye disease (cone-rod dystrophy and a dental disorder (amelogenesis imperfecta, which is caused by mutations in the CNNM4 gene. Whereas the ophthalmic consequences of these mutations have been studied comprehensively, the dental phenotype has obtained less attention. A defective transport of magnesium ions by the photoreceptors of the retina is assumed to account for the progressive visual impairment. Since magnesium is also incorporated in the mineral of dental hard tissues, we hypothesized that magnesium concentrations in defective enamel resulting from mutations in CNNM4 would be abnormal, if a similar deficiency of magnesium transport also accounted for the amelogenesis imperfecta. Thus, a detailed analysis of the dental hard tissues was performed in two boys of Kosovan origin affected by Jalili syndrome. Retinal dystrophy of the patients was diagnosed by a comprehensive eye examination and full-field electroretinography. A mutational analysis revealed a c.1312 dupC homozygous mutation in CNNM4, a genetic defect which had already been identified in other Kosovan families and putatively results in loss-of-function of the protein. The evaluation of six primary teeth using light and scanning electron microscopy as well as energy-dispersive X-ray spectroscopy showed that dental enamel was thin and deficient in mineral, suggesting a hypoplastic/hypomineralized type of amelogenesis imperfecta. The reduced mineral density of enamel was accompanied by decreased amounts of calcium, but significantly elevated levels of magnesium. In dentin, however, a similar mineral deficiency was associated with reduced magnesium and normal calcium levels. It is concluded that the c.1312 dupC mutation of CNNM4 results in mineralization defects of both enamel and dentin, which are associated with significantly abnormal magnesium concentrations. Thus, we could not disprove the hypothesis that a

  18. Systematic reviews of physical and rehabilitation medicine Cochrane contents. Part 1. Disabilities due to spinal disorders and pain syndromes in adults.

    Science.gov (United States)

    Negrini, S; Imperio, G; Villafañe, J H; Negrini, F; Zaina, F

    2013-08-01

    This article is the first in a series presenting the strongest published evidence for physical and rehabilitation medicine (PRM) to date coming from the Cochrane Collaboration. The intent of the series is to stimulate ideas for reviews and research in neglected areas of PRM. To systematically review the rehabilitation contents of the Cochrane Collaboration on disabilities due to spinal disorders or pain syndromes in adults. The Cochrane Database of Systematic Reviews was searched at the end of June 2013 for articles relevant for PRM about disabilities resulting from spinal disorders or pain syndromes in adults. Retrieved papers were classified according to the PRM approach: active therapies, which require active participation by patients to achieve treatment goals, and passive treatments, which rely on the application of external forces. The quality of the reviews was checked against the AMSTAR checklist. Reviews on spinal disorders or pain syndromes were found in the Cochrane Back Group (CBG) and in the Pain, Palliative and Supportive Care Group (CPPSCG). Thirty-eight (42.8%) of 89 Cochrane reviews in the CBG and 7 (2.4%) of 293 Cochrane reviews in the CPPSCG were included. All were of high quality (range, 8-11 points out of 11 on the AMSTAR checklist). The contents of the reviews are given in detail. This review presents an overview of the current evidence for PRM in the treatment of disabilities due to spinal disorders or pain syndromes in adults. Within PRM there is ample space for research in the Cochrane Collaboration and for producing original studies (randomized controlled trials [RCTs]). To apply evidence-based clinical practice, clinicians must be familiar with the current best evidence.

  19. Rhinoplasty via the midface degloving approach for nasal deformity due to nasal polyps: A case report of Woakes’ syndrome

    Directory of Open Access Journals (Sweden)

    Misato Ueda, MD

    2017-09-01

    Full Text Available Nasal polyps are inflammatory proliferative tumors arising from the mucosa of the nasal cavity and paranasal sinuses. Although many cases concerning nasal polyps have been reported, those involving external nasal deformities are rare. We report a case of nasal polyposis filling the nasal cavity and paranasal sinuses, leading to external nasal and facial deformities. The condition above is known as Woakes’ syndrome, which is characterized by severe recurrent nasal polyps with deformity of the nasal pyramid, leading to broadening of the nose. We performed nasal osteotomy and facial bone-shaving via the midface degloving approach, which improved the patient’s facial appearance.

  20. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

    OpenAIRE

    Haack, Tobias B.; Makowski, Christine; Yao, Yoshiaki; Graf, Elisabeth; Hempel, Maja; Wieland, Thomas; Tauer, Ulrike; Ahting, Uwe; Mayr, Johannes A.; Freisinger, Peter; Yoshimatsu, Hiroki; Inui, Ken; Strom, Tim M.; Meitinger, Thomas; Yonezawa, Atsushi

    2012-01-01

    Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy. Mutations in SLC52A3 (formerly C20orf54), coding for riboflavin transporter 2 (hRFT2), have been identified as the molecular genetic correlate in several individuals with BVVLS. Exome sequencing of just one single case revealed that compound heterozygosity for two pathogenic mutations in the SLC52A2 gene coding for riboflavin tran...

  1. Recurrent burner syndrome due to presumed cervical spine osteoblastoma in a collision sport athlete – a case report

    Directory of Open Access Journals (Sweden)

    Goins Maurice L

    2007-06-01

    Full Text Available Abstract We present a case of a 35-year-old active rugby player presenting with a history of recurrent burner syndrome thought secondary to an osteoblastoma involving the posterior arch of the atlas. Radiographically, the lesion had features typical for a large osteoid osteoma or osteoblastoma, including osseous expansion, peripheral sclerosis and bony hypertrophy, internal lucency, and even suggestion of a central nidus. The patient subsequently underwent an en bloc resection of the posterior atlas via a standard posterior approach. The surgery revealed very good clinical results. In this report, we will discuss in detail, the presentation, treatment, and return to play recommendations involving this patient.

  2. Fine needle aspiration cytology of parapharyngeal tumors

    Directory of Open Access Journals (Sweden)

    Mondal Palash

    2009-01-01

    Full Text Available Background: Parapharyngeal tumors are rare and often pose diagnostic difficulties due to their location and plethora of presentations. Objectives: The study was undertaken to study the occurrence in the population and to evaluate the exact nature by fine needle aspiration cytology (FNAC. Materials and Methods: A total of five hundred and six cases of lateral neck lesions were studied over three and half years. Of these 56 suspected parapharyngeal masses were selected by clinical and radiological methods. Cytopathology evaluation was done by fine needle aspiration cytology with computed tomography and ultrasonography guidance wherever necessary. Histopathology confirmation was available in all the cases. Results: On FNAC diagnosis could be established in 54 cases while in two cases the material was insufficient to establish a diagnosis. The tumors encountered were, pleomorphic adenoma (33, schwannoma (3, neurofibroma (11, paraganglioma (5, angiofibroma (1 and adenoid cystic carcinoma (1. Four false positives and two false negative cases were encountered. Overall sensitivity was 96%, with specificity of 99% and accuracy being 98.8%. Conclusions: With proper clinical and radiological assessment, FNAC can be extremely useful in diagnosing most of these lesions except a few which need histopathological and even immunohistochemical confirmation.

  3. Carpal tunnel syndrome due to an atypical deep soft tissue leiomyoma: The risk of misdiagnosis and mismanagement

    Directory of Open Access Journals (Sweden)

    Dimitriou Christos G

    2007-08-01

    Full Text Available Abstract Background Leiomyomas of the deep soft tissue are quite uncommon and occur even more rarely in upper extremity. Case presentation A 32-year old manual laborer man presented with a two-year history of numbness, tingling and burning pain in the palmar surface of the left hand and fingers. His medical history was unremarkable and no trauma episode was reported. According to the clinical examination and the result of median nerve conduction study (NCS the diagnosis of carpal tunnel syndrome was established. Operative release of the transverse carpal ligament was subsequently performed but the patient experienced only temporary relief of his symptoms. MRI examination revealed a deep palmary located mass with well-defined margins and ovoid shape. Intraoperatively, the tumor was in continuity with the flexor digitorum superficialis tendon of the middle finger causing substantial compression to median nerve. Histopathological findings of the resected mass were consistent with leiomyoma. After two years the patient was pain-free without signs of tumor recurrence. Conclusion Despite the fact that reports on deep soft tissue leiomyoma are exceptional, this tumor had to be considered as differential diagnosis in painful non-traumatic hand syndromes especially in young patients.

  4. Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

    Directory of Open Access Journals (Sweden)

    Carlos A. Venegas-Vega

    2013-01-01

    Full Text Available The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH and single-nucleotide polymorphism (SNP microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschhorn syndrome (WHS phenotype. Using high-resolution GTG- and NOR-banding karyotypes, as well as FISH analysis, we characterized a pure 4p deletion in both sibs and a balanced rearrangement in their father, consisting in an insertion of 4p material within a nucleolar organizing region of chromosome 15. Copy number variant (CNV analysis using SNP arrays showed that both siblings have a similar size of 4p deletion (~6.5 Mb. Our results strongly support the need for conventional cytogenetic and FISH analysis, as well as high-density microarray mapping for the optimal characterization of the genetic imbalance in patients with WHS; parents must always be studied for recognizing cryptic balanced chromosomal rearrangements for an adequate genetic counseling.

  5. Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

    Science.gov (United States)

    Venegas-Vega, Carlos A.; Zepeda, Luis M.; Garduño-Zarazúa, Luz M.; Berumen, Jaime; Kofman, Susana; Cervantes, Alicia

    2013-01-01

    The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschhorn syndrome (WHS) phenotype. Using high-resolution GTG- and NOR-banding karyotypes, as well as FISH analysis, we characterized a pure 4p deletion in both sibs and a balanced rearrangement in their father, consisting in an insertion of 4p material within a nucleolar organizing region of chromosome 15. Copy number variant (CNV) analysis using SNP arrays showed that both siblings have a similar size of 4p deletion (~6.5 Mb). Our results strongly support the need for conventional cytogenetic and FISH analysis, as well as high-density microarray mapping for the optimal characterization of the genetic imbalance in patients with WHS; parents must always be studied for recognizing cryptic balanced chromosomal rearrangements for an adequate genetic counseling. PMID:23484094

  6. Controversies in the differential diagnosis of Brown-Sequard syndrome due to cervical spinal disease from stroke: A case series

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    Vaner Koksal, M.D.

    2017-09-01

    Full Text Available Stroke is generally considered to be the first preliminary diagnosis in patients presenting with acute hemiparesia in the emergency department. But rarely in unexpected spontaneous neurological pathologies that may lead to hemiparesis. The data from 8 non-traumatic patients who underwent surgical treatment for brown-sequard syndrome (BSS were reviewed retrospectively. All patients were initially misdiagnosed with strokes. Two of the patients had spinal canal stenosis, two had spinal epidural hematomas, one had an ossified herniated disc and three had soft herniated discs. None of the patients complained of significant pain at the initial presentation. All of the patients had a mild sensory deficit that was initially unrecognized. The pain of the patients began to become evident after hospitalization and, patients transferred to neurosurgery department. Cervical spinal pathologies compressing the corticospinal tract in one-half of the cervical spinal canal may present with only hemiparesis, without neck and radicular pain. If it's too late, permanent neurological damage may become inevitable while it is a correctable pathology. Keywords: Brown-Sequard syndrome, Cervical cord, Herniated disc, Spinal epidural hematoma, Stroke

  7. Phelan-McDermid syndrome due to SHANK3 mutation in an intellectually disabled adult male: successful treatment with lithium.

    Science.gov (United States)

    Egger, Jos I M; Verhoeven, Willem M A; Groenendijk-Reijenga, Renske; Kant, Sarina G

    2017-09-28

    For 30 years, Phelan and co-workers described a syndrome characterised by neonatal hypotonia, global developmental delay, strongly impaired speech, sleep disturbances and hyperreactivity to sensory stimuli. This Phelan-McDermid syndrome (PMS), also presenting with symptoms from the autism spectrum and a higher risk of developing seizure disorders, may be caused by a deletion of chromosome 22q13 or by a mutation in the SHANK3 gene. Its core psychopathological phenotype comprises symptoms from the bipolar spectrum for which generally treatment with a mood-stabilising anticonvulsant in combination with an atypical antipsychotic seems to be most effective. In addition to two elsewhere published adolescent patients, we here describe in detail the history of an adult male patient with PMS caused by a SHANK3 mutation in whom successive treatment regimens with antipsychotics and mood-stabilising anticonvulsants were all ineffective. Ultimately, addition of lithium to existing olanzapine therapy led to enduring stabilisation of mood and behaviour. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  8. Hypopituitarism in a patient with Beckwith-Wiedemann syndrome due to hypomethylation of KvDMR1.

    Science.gov (United States)

    Baiocchi, Michela; Yousuf, Fatimah Sireen; Hussain, Khalid

    2014-04-01

    Beckwith-Wiedemann syndrome (BWS) is caused by dysregulation of imprinted genes on chromosome 11.p15.5. The syndrome includes overgrowth, macroglossia, organomegaly, abdominal wall defects, hypoglycemia, and long-term malignancy risk. No patient who has BWS has been reported with hypopituitarism. We describe a patient who presented at birth with macrosomia, macroglossia, respiratory distress, jaundice, and hypoglycemia, and who was followed for 4.5 years. Genetic test for BWS was performed, which detected loss of maternal methylation on region KvDMR1 (11p15.5). The hypoglycemia was attributable to hyperinsulinism and was treated with diazoxide and chlorothiazide. She responded well, but the hypoglycemia returned after reducing the diazoxide. It was possible to stop the diazoxide after 2.5 years. On routine follow-up she was noted to be developing short stature. Baseline pituitary and growth hormone (GH) stimulation tests detected GH deficiency and secondary hypothyroidism. A brain MRI showed a small anterior pituitary gland. Thereafter, thyroxine and replacement therapy with GH were started, which resulted in a remarkable improvement in growth velocity. This is the first patient to be reported as having hypopituitarism and BWS. It is unclear if the BWS and the hypopituitarism are somehow connected; however, further investigations are necessary. Hypopituitarism explains the protracted hypoglycemia and the short stature. In our patient, GH therapy seems to be safe, but strict follow-up is required given the increased cancer risk related to BWS.

  9. Streptococcal toxic-shock syndrome due to Streptococcus dysgalactiae subspecies equisimilis in breast cancer-related lymphedema: a case report.

    Science.gov (United States)

    Sumazaki, Makoto; Saito, Fumi; Ogata, Hideaki; Yoshida, Miho; Kubota, Yorichika; Magoshi, Syunsuke; Kaneko, Hironori

    2017-07-14

    Breast cancer-related lymphedema often causes cellulitis and is one of the most common complications after breast cancer surgery. Streptococci are the major pathogens underlying such cellulitis. Among the streptococci, the importance of the Lancefield groups C and G is underappreciated; most cases involve Streptococcus dysgalactiae subspecies equisimilis. Despite having a relatively weak toxicity compared with group A streptococci, Streptococcus dysgalactiae subspecies equisimilis is associated with a mortality rate that is as high as that of group A streptococci in cases of invasive infection because Streptococcus dysgalactiae subspecies equisimilis mainly affects elderly individuals who already have various comorbidities. An 83-year-old Japanese woman with breast cancer-related lymphedema in her left upper limb was referred to our hospital with high fever and acute pain with erythema in her left arm. She showed septic shock with disseminated intravascular coagulation. Blood culture showed positive results for Streptococcus dysgalactiae subspecies equisimilis, confirming a diagnosis of streptococcal toxic-shock syndrome. She survived after successful intensive care. To the best of our knowledge, this case represents the first report of Streptococcus dysgalactiae subspecies equisimilis-induced streptococcal toxic-shock syndrome in a patient with breast cancer-related lymphedema. Breast cancer-related lymphedema is a common problem, and we must pay attention to invasive streptococcal soft tissue infections, particularly in elderly patients with chronic disease.

  10. Megakaryocytic alterations in thrombocytopenia: A bone marrow aspiration study

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    Muhury Manas

    2009-10-01

    Full Text Available Context: Dysplastic changes are well documented in myelodysplastic syndromes (MDS. However, they are also observed in non-MDS hematological conditions. Aims: To evaluate the megakaryocytic alterations in the bone marrow aspirations in cases of non-MDS related thrombocytopenia. Setting and Design: A prospective study of 144 bone marrow aspirates was conducted in the department of pathology, Kasturba Medical College, Mangalore. The aspirates were studied to assess the number and morphology of the megakaryocytes in non-MDS related thrombocytopenia and evaluate their significance when compared to changes in MDS. Materials and Methods: The bone marrow aspiration smears were stained with Leishman stain and examined under light microscope. Statistical Analysis Used: Fisher′s exact test. A P value less than 0.05 was considered significant. Sensitivity and specificity was calculated for those features which were significant in the relevant hematological disorders. Results: The sensitivity of immature megakaryocytes, dysplastic forms and micromegakaryocytes in cases of immune thrombocytopenic purpura was 100%, 89% and 42% respectively. The specificity of emperipolesis was 74%. In cases of infection-associated thrombocytopenia, immature megakaryocytes had a sensitivity of 100% and cytoplasmic vacuolization were 86% specific. The sensitivity of the dysplastic forms in megaloblastic anemia was 75%. However, no platelet budding was observed. The presence of micromegakaryocyte had a specificity of 83% in MDS, and was statistically significant when compared to cases of non-MDS conditions (P< 0.05. Conclusions: Careful understanding of the morphological changes of megakaryocytes in bone marrow aspirates can improve the diagnostic accuracy for a wide range of hematological disorders thereby enabling proper therapeutic interventions.

  11. Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis

    NARCIS (Netherlands)

    van Dijk, Fleur S.; Mancini, Grazia M. S.; Maugeri, Alessandra; Cobben, Jan M.

    2017-01-01

    We report two children with Ehlers Danlos, kyphoscoliotic type confirmed by Lysyl Hydroxylase 1 deficiency due to bi-allelic PLOD1 mutations (kEDS-PLOD1) who were initially thought to have either a diagnosis of classical EDS (cEDS) or a neuromuscular disorder due to absence of (congenital)

  12. Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.

    Science.gov (United States)

    Gigante, Laura; Paganini, Irene; Frontali, Marina; Ciabattoni, Serena; Sangiuolo, Federica Carla; Papi, Laura

    2016-01-01

    Rhabdoid tumors are aggressive malignancies that show loss-of-function mutations of SMARCB1 gene, a member of the SWI/SNF chromatin-remodeling complex controlling gene transcription. One-third of patients affected by rhabdoid tumor harbor a germ-line mutation of SMARCB1 defining a rhabdoid tumor predisposition syndrome. The occurrence of a second somatic mutation determines the development of neoplasia in a two-hit model. Most germ-line mutations occur de novo, and few cases of recurrence in a sibship have been described. Here we report on a new Italian family with recurrence of SMARCB1 germ-line deletion in two siblings due to gonadal mosaicism. The deletion was identified in the 9-month-old proband with malignant rhabdoid tumor of the right kidney and disseminated metastases. Testing of both parents confirmed the de novo origin of the mutation, but recurrence was then detected prenatally in a new pregnancy. This is the sixth family with malignant rhabdoid tumor predisposition syndrome with the recurrence of the same germ-line SMARCB1 mutation in the sibship but not in healthy parents, suggesting that gonadal mosaicism is a less rare event than supposed. The clinical outcome in our patient confirms previous data of poorer outcome in patients with rhabdoid tumor predisposition syndrome.

  13. Wolff-Parkinson-White syndrome and noncompaction in Leber's hereditary optic neuropathy due to the variant m.3460G>A.

    Science.gov (United States)

    Finsterer, Josef; Stollberger, Claudia; Gatterer, Edmund

    2018-05-01

    This report describes a 66-year-old Caucasian male who acutely developed severe, bilateral impairment of visual acuity at 24 years of age. Leber's hereditary optic neuropathy (LHON) was suspected but the diagnosis was not genetically confirmed until the age of 49 years when the primary LHON mutation m.3460G>A was detected. Since onset, visual acuity had slightly improved. The family history was positive for LHON (brother, two sisters of mother, female cousin) and genetically confirmed in his brother and one aunt. Since the age of 65 years, he had experienced recurrent vertigo. His cardiological history was positive for arterial hypertension, noncompaction, myocardial thickening, intermittent right bundle-branch-block (RBBB) and Wolff-Parkinson-White (WPW) syndrome. In addition to LHON, he presented with polyneuropathy, hyperCKaemia, carotid artery occlusion, and a history of stroke. Cardiological investigations at 66 years of age revealed mildly reduced systolic function, enlarged atria, and nonsustained ventricular tachycardias. He underwent an electrophysiological investigation, but radiofrequency ablation was ruled out due to a 'bizarre' cardiac conduction system. Instead, an implantable cardioverter defibrillator was proposed but refused by the patient. Since the vertigo did not resolve it was attributed to polyneuropathy. This case demonstrates that LHON may be associated with noncompaction, myocardial thickening, reduced systolic function, enlarged atria, RBBB, WPW syndrome and nonsustained ventricular tachycardias. WPW syndrome in LHON may require invasive antiarrhythmic treatment.

  14. Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

    Science.gov (United States)

    Popp, Bernt; Trollmann, Regina; Büttner, Christian; Caliebe, Almuth; Thiel, Christian T; Hüffmeier, Ulrike; Reis, André; Zweier, Christiane

    2016-10-01

    Williams-Beuren syndrome (WBS) is a relatively common, clinically recognizable microdeletion syndrome. In most cases the typical heterozygous deletion of 1.5 Mb on chromosome 7q11.23 spanning about 26 genes can be identified. Also some larger or smaller atypical deletions have been reported and associated with additional or atypical phenotypic aspects. We report on an individual with typical WBS due to the common deletion and with refractory infantile spasms. Using trio-exome sequencing, we identified a de novo truncating variant c.1200del, p (Lys401Serfs*25) in GABRA1 as the likely cause of the early onset epilepsy. This unique case not only allows to further define the phenotypic spectrum of infantile epileptic encephalopathy associated with rare de novo GABRA1 variants but exemplifies the need for a sensitive review of unclear associations in clinically defined syndromes and for extended diagnostic work-up in individuals with unusual presentations of a genetically confirmed diagnosis. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  15. Delayed diagnosis of Herlyn-Werner-Wunderlich syndrome due to microperforation and pyocolpos in obstructed vaginal canal.

    Science.gov (United States)

    Wozniakowska, Ewa; Torres, Anna; Milart, Pawel; Wozniak, Slawomir; Czuczwar, Piotr; Szkodziak, Piotr; Paszkowski, Tomasz

    2014-08-01

    To present a rare anomaly consisting of uterus didelphys, longitudinal vaginal septum, obstructed hemivagina with pyocolpos, fistula to the open vaginal canal, and ipsilateral renal agenesis, referred as Herlyn-Werner-Wunderlich syndrome (HWWS). A 14-year-old girl with recurring purulent vaginal discharge lasting for a few months. Preoperative examination revealed one vaginal canal with one cervical opening on the right side. There was a fistula leading from the obstructed vaginal canal to the left vagina. Intravaginal ultrasound examination demonstrated a longitudinal vaginal septum and a closed pyocolpos on the right side. The longitudinal vaginal septum was excised by way of electrocauterization under direct vision. HWWS should be considered in the differential diagnosis in patients with uterus didelphys and unusual symptoms such as pyocolpos and vaginal discharge. Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  16. Pleural empyema and streptococcal toxic shock syndrome due to Streptococcus pyogenes in a healthy Spanish traveler in Japan

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    Tetsuya Sakai

    2017-01-01

    Full Text Available Group A Streptococcus (GAS, Streptococcus pyogenes causes invasive infections including streptococcal toxic shock syndrome (STSS and local infections. To our knowledge, this is the first report of a case of an invasive GAS infection with pneumonia and pleural empyema (PE followed by STSS (disseminated intravascular coagulation [DIC] and acute renal insufficiency in a healthy male adult. He received combined supportive therapies of PE drainage, anti-DIC agent, hemodialysis, and antimicrobials and eventually made a clinical recovery. GAS isolated from PE was found to have emm1/speA genes, suggestive of a pathogenic strain. Clinicians should be aware of the possibility of this disease entity (pneumonia, PE, and STSS in healthy male adults as well as children and adult women.

  17. Successful Pregnancies and Deliveries in a Patient With Evolving Hypopituitarism due to Pituitary Stalk Transection Syndrome: Role of Growth Hormone Replacement

    Science.gov (United States)

    Yoshizawa, Miyako; Ieki, Yasuhiko; Takazakura, Eisuke; Fukuta, Kaori; Hidaka, Takao; Wakasugi, Takanobu; Shimatsu, Akira

    2017-01-01

    We herein report a 31-year-old Japanese woman with evolving hypopituitarism due to pituitary stalk transection syndrome. She had a history of short stature treated with growth hormone (GH) in childhood and had hypothyroidism and primary amenorrhea at 20 years old. Levothyroxine replacement and recombinant follicle stimulating hormone-human chorionic gonadotropin (FSH-hCG) therapy for ovulation induction were started. GH replacement therapy (GHRT) was resumed when she was 26 years old. She developed mild adrenocortical insufficiency at 31 years old. She succeeded in becoming pregnant and delivered twice. GHRT was partially continued during pregnancy and stopped at the end of the second trimester without any complications. PMID:28250299

  18. Metabolic syndrome as a risk factor for total hip or knee replacement due to primary osteoarthritis: a prospective cohort study (the HUNT study and the Norwegian Arthroplasty Register).

    Science.gov (United States)

    Hellevik, Alf Inge; Johnsen, Marianne Bakke; Langhammer, Arnulf; Baste, Valborg; Furnes, Ove; Storheim, Kjersti; Zwart, John Anker; Flugsrud, Gunnar Birkeland; Nordsletten, Lars

    2018-01-01

    Biochemical changes associated with obesity may accelerate osteoarthritis beyond the effect of mechanical factors. This study investigated whether metabolic syndrome and its components (visceral obesity, hypertension, dyslipidemia and insulin resistance) were risk factors for subsequent total hip replacement (THR) or total knee replacement (TKR) due to primary osteoarthritis. In this prospective cohort study, data from the second survey of the Nord-Trøndelag Health Study 2 (HUNT2) were linked to the Norwegian Arthroplasty Register for identification of the outcome of THR or TKR. The analyses were stratified by age (<50, 50-69.9 and ≥70 years) and adjusted for gender, body mass index, smoking, physical activity and education. Of the 62,661 participants, 12,593 (20.1%) were identified as having metabolic syndrome, and we recorded 1,840 (2.9%) THRs and 1,111 (1.8%) TKRs during a mean follow-up time of 15.4 years. Cox regression analyses did not show any association between full metabolic syndrome and THR or TKR, except in persons <50 years with metabolic syndrome who had a decreased risk of THR (hazard ratio [HR] 0.58, 95% CI 0.40-0.83). However, when including only participants whose exposure status did not change during follow-up, this protective association was no longer significant. Increased waist circumference was associated with increased risk of TKR in participants <50 years (HR 1.62, 95% CI 1.10-2.39) and 50-69.9 years (HR 1.43, 95% CI 1.14-1.80). Hypertension significantly increased the risk of TKR in participants <50 years (HR 1.38, 95% CI 1.05-1.81), and this risk was greater for men. This study found an increased risk of TKR in men <50 years with hypertension and persons <70 years with increased waist circumference. Apart from this, neither metabolic syndrome nor its components were associated with increased risk of THR or TKR due to primary osteoarthritis.

  19. Compartment syndrome like picture in metaphyseal comminuted fracture of tibia treated by locking plate due to tight closure

    Directory of Open Access Journals (Sweden)

    Prafulla Herode

    2013-01-01

    Full Text Available A 22-year-old male came to casualty on 5 th May 2012 after a fall from motorcycle. He complained of excruciating pain and swelling over right knee. There was an open wound of 7 × 2 cm over supra-patellar region and diffuse swelling over knee joint with severe tenderness over proximal aspect of right tibia. X-ray showed intra-articular fracture of proximal tibia extending to diaphysis classified as type 6 by Schatzker classification for proximal tibia, with fibula shaft transverse fracture. The skin over the fracture was contused. Debridement with primary wound closure was done in emergency. Skeletal traction was applied through a lower tibial Steinman pin. Patient was operated after 15 days when wound healed and swelling subsided. Locking plate was applied on medial aspect using Minimally invasive percutaneous plate osteosysthesis (MIPPO technique. Post-operatively over 4 hours patient developed severe pain and swelling in operated leg which mimicked compartment syndrome. Suture removal was done immediately in the ward from the distal aspect, which relieved the symptoms but lead to exposure of the plate. A rotational flap was done to cover the plate in coordination with a plastic surgeon on the next day.

  20. Beauty parlor stroke syndrome due to a bone fragment from an osteophyte of the atlas: case report.

    Science.gov (United States)

    Kameda, Takuya; Otani, Koji; Tamura, Takamitsu; Konno, Shinichi

    2018-04-01

    Beauty parlor stroke syndrome (BPSS) is a rare condition characterized by mechanical impingement of a vertebral artery (VA) during neck rotation and/or hyperextension followed by vertebrobasilar insufficiency. However, there have been no reports of BPSS in which the cause of mechanical impingement was identified and no cases for which surgical treatment was reported. The authors report the case of a 56-year-old Japanese man who presented with presyncope that occurred during cervical extension. Given the possibility of vertebrobasilar insufficiency, digital subtraction angiography and CT angiography were performed. These studies revealed that the right VA was hypoplastic and the left VA was dominant. Moreover, in the position of cervical extension, the dominant left VA showed constriction caused by a bone fragment of an osteophyte of the atlas. Removal of the bone fragment was performed. Postoperative left vertebral angiography showed improvement of blood flow in the extended position, and the presyncope completely disappeared. The pathomechanism of this case was a bone fragment compressing the left VA in the C-1 groove during neck extension. In BPSS patients with recurrent transient symptoms, the possibility of this mechanism of VA constriction by a free bone fragment should be considered.

  1. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.

    Science.gov (United States)

    Haack, Tobias B; Makowski, Christine; Yao, Yoshiaki; Graf, Elisabeth; Hempel, Maja; Wieland, Thomas; Tauer, Ulrike; Ahting, Uwe; Mayr, Johannes A; Freisinger, Peter; Yoshimatsu, Hiroki; Inui, Ken; Strom, Tim M; Meitinger, Thomas; Yonezawa, Atsushi; Prokisch, Holger

    2012-11-01

    Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy. Mutations in SLC52A3 (formerly C20orf54), coding for riboflavin transporter 2 (hRFT2), have been identified as the molecular genetic correlate in several individuals with BVVLS. Exome sequencing of just one single case revealed that compound heterozygosity for two pathogenic mutations in the SLC52A2 gene coding for riboflavin transporter 3 (hRFT3), another member of the riboflavin transporter family, is also associated with BVVLS. Overexpression studies confirmed that the gene products of both mutant alleles have reduced riboflavin transport activities. While mutations in SLC52A3 cause decreased plasma riboflavin levels, concordant with a role of SLC52A3 in riboflavin uptake from food, the SLC52A2-mutant individual had normal plasma riboflavin concentrations, a finding in line with a postulated function of SLC52A2 in riboflavin uptake from blood into target cells. Our results contribute to the understanding of human riboflavin metabolism and underscore its role in the pathogenesis of BVVLS, thereby providing a rational basis for a high-dose riboflavin treatment.

  2. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy

    Energy Technology Data Exchange (ETDEWEB)

    Cassidy, S.B.; Lai, Li-Wen; Erickson, R.P. (Univ. of Arizona College of Medicine, Tucson, AZ (United States)); Magnuson, L.; Thomas, E.; Herrmann, J. (Great Lakes Genetics, Milwaukee, AZ (United States)); Gendron, R. (Great Lakes Genetics, Kingsport, TN (United States))

    1992-10-01

    Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome (PWS). The authors describe a particularly instructive case which raises important issues concerning the mechanisms producing uniparental disomy and whose evaluation provides evidence that trisomy may precede uniparental disomy in a fetus. Chorionic villus sampling performed for advanced maternal age revealed trisomy 15 in all direct and cultured cells, though the fetus appeared normal. Chromosome analysis of amniocytes obtained at 15 wk was normal in over 100 cells studied. The child was hypotonic at birth, and high-resolution banding failed to reveal the deletion of 15q11-13, a deletion which is found in 50%-70% of patients with PWS. Over time, typical features of PWS developed. Molecular genetic analysis using probes for chromosome 15 revealed maternal disomy. Maternal nondisjunction with fertilization of a disomic egg by a normal sperm, followed by loss of the paternal 15, is a likely cause of confined placental mosaicism and uniparental disomy in this case of PWS, and advanced maternal age may be a predisposing factor. 38 refs., 3 figs., 2 tabs.

  3. Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression.

    Science.gov (United States)

    de Bruyn, Gwendolyn; Casaer, Alexandra; Devolder, Katrien; Van Acker, Geert; Logghe, Hilde; Devriendt, Koen; Cornette, Luc

    2012-03-01

    Non-immune hydrops fetalis may find its origin within genetically determined lymphedema syndromes, caused by mutations in FOXC2 and SOX-18. We describe a newborn girl, diagnosed with non-immune hydrops fetalis at a gestational age of 30 weeks. Family history revealed the presence of an autosomal dominant late-onset form of lymphedema of the lower limbs in her father, associated with an aberrant implantation of the eyelashes in some individuals. The newborn, hydropic girl suffered from severe pulmonary lymphangiectasia, resulting in terminal respiratory failure at the age of 3 months. Genetic analysis in both the father and the newborn girl demonstrated a heterozygous FOXC2 mutation, i.e., c.939C>A, p.Tyr313X. Her two older sisters are currently asymptomatic and the parents decided not to test them for the FOXC2 mutation. Patients with a mutation in the FOXC2 transcription factor usually show lower limb lymphedema with onset at or after puberty, together with distichiasis. However, the eye manifestations can be very mild and easily overlooked. The association between FOXC2 mutation and neonatal hydrops resulting in terminal respiratory failure is not reported so far. Therefore, in sporadic patients diagnosed with non-immune hydrops fetalis, lymphangiogenic genes should be systematically screened for mutations. In addition, all cases of fetal edema must prompt a thorough analysis of the familial pedigree, in order to detect familial patterns and to facilitate adequate antenatal counseling.

  4. Is Efficacy of the Anti-Cd20 Antibody Rituximab Preventing Hemolysis Due to Passenger Lymphocyte Syndrome?

    Science.gov (United States)

    Tsujimura, Kazuma; Ishida, Hideki; Tanabe, Kazunari

    2017-02-01

    Passenger lymphocyte syndrome (PLS) often occurs after ABO-mismatched solid organ and/or bone marrow transplantation between a donor and recipient. Viable donor B-lymphocytes transferred during organ transplantation produce antibodies against recipient red cell antigens, leading to hemolysis. The incidence of PLS has been reported to be around 9% after renal transplantation. A previous report showed that rituximab (Rit) was useful for treatment of PLS in allogeneic stem cell transplantation, bowel transplant and severe cases of hemolysis. However, the effectiveness of Rit in preventing PLS after renal transplantation has not yet been evaluated. The participants in this study were 85 patients who had undergone ABO-mismatched renal transplantation from January 2005 to April 2013. Rit was administered to these patients before transplantation. None of the patients that received Rit treatment developed PLS. Thus administration of Rit before transplantation effectively controlled the production of antibodies by B-lymphocytes, which probably prevented the development of PLS. © 2016 International Society for Apheresis, Japanese Society for Apheresis, and Japanese Society for Dialysis Therapy.

  5. [A case of anaphylaxis due to rose-flavored soft-serve ice cream with pollen food allergy syndrome].

    Science.gov (United States)

    Kitabayashi, Taeru; Sato, Sayuri; Adachi, Mitsuru

    2013-05-01

    We experienced a 10-year-old boy who had anaphylaxis after eating rose-flavored soft-serve ice cream. The patient felt a sense of discomfort in his throat when eating apple, peach, loquat, Japanese pear, and kiwi fruit. Therefore, we measured specific IgE antibodies to allergen components by ImmunoCAP ISAC. Consequently, the patient gave positive results for all PR-10 proteins from birch, alder, hazel, apple, peach, peanut, hazelnut, and soybean, so we diagnosed him with Pollen Food Allergy Syndrome (PFAS) induced by cross reactivity with pollens of birch family and fruits of rose family. When we conducted the skin prick test as is for red rose syrup because of the belief that anaphylaxis was caused by the rose ingredient contained in rose-flavored soft-serve ice cream, the patient gave a strong positive result. However, the results were negative for rose essence and Food Red No. 2 contained. Subsequently, it was found that red rose syrup contained apple juice. Therefore, we conducted the prick-prick test for apple, and the patient was confirmed to be strongly positive to apple. We thus identified apple as the cause of anaphylaxis. Since there is no legal obligation of labeling specific raw materials when directly selling manufactured and processed food products to general consumers, it is possible for general consumers to mistakenly take them in without knowing the containment of allergic substances. It is believed that the labeling method should be improved in the future.

  6. Long-Term Effect of GPi-DBS in a Patient With Generalized Dystonia Due to GLUT1 Deficiency Syndrome

    Directory of Open Access Journals (Sweden)

    Idil Hanci

    2018-05-01

    Full Text Available Treatment outcomes from pallidal deep brain stimulation are highly heterogeneous reflecting the phenotypic and etiologic spectrum of dystonia. Treatment stratification to neurostimulation therapy primarily relies on the phenotypic motor presentation; however, etiology including genetic factors are increasingly recognized as modifiers of treatment outcomes. Here, we describe a 53 year-old female patient with a progressive generalized dystonia since age 25. The patient underwent deep brain stimulation of the globus pallidus internus (GPi-DBS at age 44. Since the clinical phenotype included mobile choreo-dystonic features, we expected favorable therapeutic outcome from GPi-DBS. Although mobile dystonia components were slightly improved in the long-term outcome from GPi-DBS the overall therapeutic response 9 years from implantation was limited when comparing “stimulation off” and “stimulation on” despite of proper electrode localization and sufficient stimulation programming. In order to further understand the reason for this limited motor symptom response, we aimed to clarify the etiology of generalized dystonia in this patient. Genetic testing identified a novel heterozygous pathogenic SLC2A1 mutation as cause of glucose transporter type 1 deficiency syndrome (GLUT1-DS. This case report presents the first outcome of GPi-DBS in a patient with GLUT1-DS, and suggests that genotype relations may increasingly complement phenotype-based therapy stratification of GPi-DBS in dystonia.

  7. MRI Shows that Exhaustion Syndrome Due to Chronic Occupational Stress is Associated with Partially Reversible Cerebral Changes.

    Science.gov (United States)

    Savic, I; Perski, A; Osika, W

    2018-03-01

    The present study investigates the cerebral effects of chronic occupational stress and its possible reversibility. Forty-eight patients with occupational exhaustion syndrome (29 women) and 80 controls (47 women) underwent structural magnetic resonance imaging (MRI) and neuropsychological testing. Forty-four participants (25 patients, 19 controls) also completed a second MRI scan after 1-2 years. Only patients received cognitive therapy. The stressed group at intake had reduced thickness in the right prefrontal cortex (PFC) and left superior temporal gyrus (STG), enlarged amygdala volumes, and reduced caudate volumes. Except for the caudate volume, these abnormalities were more pronounced in females. They were all related to perceived stress, which was similar for both genders. Thickness of the PFC also correlated with an impaired ability to down-modulate negative emotions. Thinning of PFC and reduction of caudate volume normalized in the follow-up. The amygdala enlargement and the left STG thinning remained. Longitudinal changes were not detected among controls. Chronic occupational stress was associated with partially reversible structural abnormalities in key regions for stress processing. These changes were dynamically correlated with the degree of perceived stress, highlighting a possible causal link. They seem more pronounced in women, and could be a substrate for an increased cerebral vulnerability to stress-related psychiatric disorders. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  8. Early surfactant guided by lamellar body counts on gastric aspirate in very preterm infants

    DEFF Research Database (Denmark)

    Verder, Henrik Axel; Ebbesen, Finn Oluf; Fenger-Grøn, Jesper

    2013-01-01

    We have developed a rapid method, based on lamellar body counts (LBC) on gastric aspirate, for identifying newborns who will develop respiratory distress syndrome with a need for surfactant supplementation. Objective: We set out to test whether it was possible to improve the outcome when used in ...

  9. Tracheobronchial Foreign Body Aspiration: Dental Prosthesis

    Directory of Open Access Journals (Sweden)

    Ataman Köse

    2014-01-01

    Full Text Available It is important to extract foreign bodies for avoiding life-threatening complications. They can lead to death if they are not treated. Different signs and symptoms could occur according to the complete or partial airway obstruction. Foreign body aspiration is a rare incident in adults. The organic foreign materials such as foods are found to be aspirated more commonly and are usually settled in the right bronchial system. However, dental prosthesis and teeth aspirations are rare in literature. In our study, a 52-year-old male patient who had aspirated the front part of his lower dental prosthesis accidentally is presented and the foreign body is extracted by using rigid bronchoscopy. There are many causes of aspiration but dental prosthetic aspirations should be kept in mind during sleep. For this reason, dental apparatus must be taken out while asleep.

  10. A Novel Porcine Model of Septic Shock Induced by Acute Respiratory Distress Syndrome due to Methicillin-resistant Staphylococcus aureus

    Directory of Open Access Journals (Sweden)

    Shuo Wang

    2017-01-01

    Conclusions: In the present study, we developed a novel porcine model of septic shock induced by ARDS due to severe MRSA pneumonia with characteristic hyperdynamic and hypodynamic phases in 24 h, which mimicked the hemodynamic changing of septic shock in human.

  11. Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations.

    Science.gov (United States)

    Sumaroka, Alexander; Matsui, Rodrigo; Cideciyan, Artur V; McGuigan, David B; Sheplock, Rebecca; Schwartz, Sharon B; Jacobson, Samuel G

    2016-07-01

    To study transition zones from normal to abnormal retina in Usher syndrome IB (USH1B) caused by myosin 7A (MYO7A) mutations. Optical coherence tomography (OCT) scattering layers in outer retina were segmented in patients (n = 16, ages 2-42; eight patients had serial data, average interval 4.5 years) to quantify outer nuclear layer (ONL) and outer segments (OS) as well as the locus of EZ (ellipsoid zone) edge and its extent from the fovea. Static perimetry was measured under dark-adapted (DA) and light-adapted (LA) conditions. Ellipsoid zone edge in USH1B-MYO7A could be located up to 23° from the fovea. Ellipsoid zone extent constricted at a rate of 0.51°/year with slower rates at smaller eccentricities. A well-defined EZ line could be associated with normal or abnormal ONL and/or OS thickness; detectable ONL extended well beyond EZ edge. At the EZ edge, the local slope of LA sensitivity loss was 2.6 (±1.7) dB/deg for central transition zones. At greater eccentricities, the local slope of cone sensitivity loss was shallower (1.1 ± 0.4 dB/deg for LA) than that of rod sensitivity loss (2.8 ± 1.2 dB/deg for DA). In USH1B-MYO7A, constriction rate of EZ extent depends on the initial eccentricity of the transition. Ellipsoid zone edges in the macula correspond to large local changes in cone vision, but extramacular EZ edges show more pronounced losses on rod-based vision tests. It is advisable to use not only the EZ line but also other structural and functional parameters for estimating natural history of disease and possible therapeutic effects in future clinical trials of USH1B-MYO7A.

  12. End-stage kidney disease due to haemolytic uraemic syndrome – outcomes in 241 consecutive ANZDATA registry cases

    Directory of Open Access Journals (Sweden)

    Tang Wen

    2012-12-01

    Full Text Available Abstract Background The aim of this study was to investigate the characteristics and outcomes of patients receiving renal replacement therapy for end-stage kidney disease (ESKD secondary to haemolytic uraemic syndrome (HUS. Methods The study included all patients with ESKD who commenced renal replacement therapy in Australia and New Zealand between 15/5/1963 and 31/12/2010, using data from the ANZDATA Registry. HUS ESKD patients were compared with matched controls with an alternative primary renal disease using propensity scores based on age, gender and treatment era. Results Of the 58422 patients included in the study, 241 (0.4% had ESKD secondary to HUS. HUS ESKD was independently associated with younger age, female gender and European race. Compared with matched controls, HUS ESKD was not associated with mortality on renal replacement therapy (adjusted hazard ratio [HR] 1.14, 95% CI 0.87-1.50, p = 0.34 or dialysis (HR 1.34, 95% CI 0.93-1.93, p = 0.12, but did independently predict recovery of renal function (HR 54.01, 95% CI 1.45-11.1, p = 0.008. 130 (54% HUS patients received 166 renal allografts. Overall renal allograft survival rates were significantly lower for patients with HUS ESKD at 1 year (73% vs 91%, 5 years (62% vs 85% and 10 years (49% vs 73%. HUS ESKD was an independent predictor of renal allograft failure (HR 2.59, 95% CI 1.70-3.95, p  Conclusions HUS is an uncommon cause of ESKD, which is associated with comparable patient survival on dialysis, an increased probability of renal function recovery, comparable patient survival post-renal transplant and a heightened risk of renal transplant graft failure compared with matched ESKD controls.

  13. Thrombus aspiration catheter is a Dottering balloon

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    D. Sheshagiri Rao

    2016-07-01

    Full Text Available Coronary angiogram in a young man with history of STEMI with delayed presentation revealed subtotal occlusion of left anterior descending artery (LAD with large thrombotic filling defect distal to the critical lesion. PCI was preferred without delay because of ongoing chest pain. Several runs of thrombus aspiration failed to detect any visible thrombus. However, the immediate angiogram after thrombus aspiration showed complete distal embolization of the thrombus which could have been achieved by Dottering or balloon dilatation. In contrary to the general perception, does thrombus aspiration push more thrombus than it can aspirate?

  14. Thrombus aspiration catheter is a Dottering balloon.

    Science.gov (United States)

    Sheshagiri Rao, D; Barik, Ramachandra; Prasad, Akula Siva

    2016-01-01

    Coronary angiogram in a young man with history of STEMI with delayed presentation revealed subtotal occlusion of left anterior descending artery (LAD) with large thrombotic filling defect distal to the critical lesion. PCI was preferred without delay because of ongoing chest pain. Several runs of thrombus aspiration failed to detect any visible thrombus. However, the immediate angiogram after thrombus aspiration showed complete distal embolization of the thrombus which could have been achieved by Dottering or balloon dilatation. In contrary to the general perception, does thrombus aspiration push more thrombus than it can aspirate? Copyright © 2016 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.

  15. CARDIAC STRUCTURAL AND FUNCTIONAL ABNORMALITIES IN FEMALES WITH UNTREATED HYPOPITUITARISM DUE TO SHEEHAN SYNDROME: RESPONSE TO HORMONE REPLACEMENT THERAPY.

    Science.gov (United States)

    Laway, Bashir Ahmad; Ramzan, Mahroosa; Allai, Mohd Sultan; Wani, Arshad Iqbal; Misgar, Raiz Ahmad

    2016-09-01

    = postpartum hemorrhage PWd = posterior wall diameter SS = Sheehan syndrome SV = stroke volume T3 = triiodothyronine T4 = thyroxine TSH = thyroid-stimulating hormone.

  16. Metabolic syndrome as a risk factor for total hip or knee replacement due to primary osteoarthritis: a prospective cohort study (the HUNT study and the Norwegian Arthroplasty Register

    Directory of Open Access Journals (Sweden)

    Hellevik AI

    2018-01-01

    Full Text Available Alf Inge Hellevik,1,2 Marianne Bakke Johnsen,3,4 Arnulf Langhammer,1 Valborg Baste,5 Ove Furnes,6,7 Kjersti Storheim,3,4 John Anker Zwart,3,4 Gunnar Birkeland Flugsrud,2 Lars Nordsletten2,4 1The HUNT Research Centre, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, NTNU, Norwegian University of Science and Technology, Levanger, 2Division of Orthopaedic Surgery, Oslo University Hospital, Oslo, 3Research and Communication Unit for Musculoskeletal Health, Division of Clinical Neuroscience, Oslo University Hospital, Oslo, 4Faculty of Medicine, University of Oslo, Oslo, 5Uni Research Health, Bergen, 6The Norwegian Arthroplasty Register, Department of Orthopedic Surgery, Haukeland University Hospital, Bergen, 7Department of Clinical Medicine, Institute of Medicine and Dentistry, University of Bergen, Bergen, Norway Objective: Biochemical changes associated with obesity may accelerate osteoarthritis beyond the effect of mechanical factors. This study investigated whether metabolic syndrome and its components (visceral obesity, hypertension, dyslipidemia and insulin resistance were risk factors for subsequent total hip replacement (THR or total knee replacement (TKR due to primary osteoarthritis.Design: In this prospective cohort study, data from the second survey of the Nord-Trøndelag Health Study 2 (HUNT2 were linked to the Norwegian Arthroplasty Register for identification of the outcome of THR or TKR. The analyses were stratified by age (<50, 50–69.9 and ≥70 years and adjusted for gender, body mass index, smoking, physical activity and education.Results: Of the 62,661 participants, 12,593 (20.1% were identified as having metabolic syndrome, and we recorded 1,840 (2.9% THRs and 1,111 (1.8% TKRs during a mean follow-up time of 15.4 years. Cox regression analyses did not show any association between full metabolic syndrome and THR or TKR, except in persons <50 years with metabolic syndrome who had a decreased risk

  17. Comparison of retrievable stents and permanent stents for Budd-Chiari syndrome due to obstructive inferior vena cava.

    Science.gov (United States)

    Bi, Yonghua; Chen, Hongmei; Ding, Penxu; Ren, Jianzhuang; Han, Xinwei

    2018-05-30

    To compare long-term outcomes of retrievable stents and permanent stents for BCS due to long-segment obstructive IVC. Between July 2000 and August 2016, 42 patients with BCS due to long-segment obstructive IVC were treated with retrievable stents (RS) and 41 patients were treated with permanent stents (PS). The retrievable stents was removed eventually after thrombus disappeared. Patients were subsequently followed-up by color Doppler sonography or CT scanning. All retrievable stent placements were successfully, and 37 retrievable stents were retrieved 8 to 29 days later. Forty-two stents were implanted in PS Group. One failure retrieval of retrievable stents occurred, and two failures of cannulations were found in PS Group. Two deaths may procedure-related and died from acute pulmonary thromboembolism perioperatively. One patient developed acute cerebral infarction and recovered after treatment. In PS Group, minor complications were found in 3 patients. The length of IVC lesion segment, length and thickness of IVC thrombus decreased significantly, and diameter of retrocaval IVC and diaphragm IVC increased significantly in both groups. During follow up, 3 patients died from liver failure in RS Group and 2 patients died in PS Group. RS Group showed a significantly higher primary patency rate than PS Group. Cumulative 1-, 3-, and 5-year secondary patency rates were 95.2%, 89.6%, 89.6% in RS Group, and 100%, 96.6%, 96.6% in PS Group (p= 0.7109). Retrievable stents is effective for BCS due to long-segment obstructive IVC, with a higher primary patency rate. This article is protected by copyright. All rights reserved.

  18. Reversible acute axonal polyneuropathy associated with Wernicke-Korsakoff syndrome: impaired physiological nerve conduction due to thiamine deficiency?

    Science.gov (United States)

    Ishibashi, S; Yokota, T; Shiojiri, T; Matunaga, T; Tanaka, H; Nishina, K; Hirota, H; Inaba, A; Yamada, M; Kanda, T; Mizusawa, H

    2003-05-01

    Acute axonal polyneuropathy and Wernicke-Korsakoff encephalopathy developed simultaneously in three patients. Nerve conduction studies (NCS) detected markedly decreased compound muscle action potentials (CMAPs) and sensory nerve action potentials (SNAPs) with minimal conduction slowing; sympathetic skin responses (SSRs) were also notably decreased. Sural nerve biopsies showed only mild axonal degeneration with scattered myelin ovoid formation. The symptoms of neuropathy lessened within two weeks after an intravenous thiamine infusion. CMAPs, SNAPs, and SSRs also increased considerably. We suggest that this is a new type of peripheral nerve impairment: physiological conduction failure with minimal conduction delay due to thiamine deficiency.

  19. Endometriome: Aspiration versus Operation // Endometrioma: Aspiration versus Surgery

    Directory of Open Access Journals (Sweden)

    Sommergruber M

    2016-01-01

    Full Text Available Endometriosis is often associated with sterility. In 20–50 % of women with endometriosis the ovaries are affected. Ovarian endometrioma often present with inhomogeneous ultrasound patterns. The differentiation to other ovarian tumors could be difficult. In case of primary diagnosis, histological findings are indicated, all the more as ovarian endometriosis has an increased risk for malignant transformation. Therapeutic surgical intervention should be done in sano.brNevertheless, to affect a compromise in case of infertility, especially in patients with reduced ovarian reserve, laparoscopic aspiration or laser coagulation after fenestration could be a second option with the occurrence of small recurrent endometriomas. A histological diagnosis should be done, too. The surgical procedure should be discussed with the department of reproductive medicine.brThe effect of endometriomas on the reproductive outcome is not clear. Systematic reviews have shown that regarding pregnancy rates, endometriomas do not have to be necessarily removed. Primary ultrasound-guided transvaginal aspiration of endometriomas should be avoided to decrease the risk of infection. If the same is the truth in case of accidental aspiration during the oocyte retrieval, remains unproven. Contaminated follicular fluid by endometrioma content may have an influence on clinical pregnancy and live birth rate. p bKurzfassung: /bEndometriose und Sterilität sind häufig assoziiert. Bei 20–50 % aller Frauen mit Endometriose sind die Ovarien befallen. Ovarielle Endometriome weisen häufig ein typisches echoinhomogenes Schallmuster auf, sind aber nicht immer eindeutig gegenüber anderen Ovarialtumoren abgrenzbar. Eine histologische Abklärung ist daher bei Erstdiagnose indiziert, umso mehr als ein erhöhtes Entartungsrisiko bei ovarieller Endometriose nachgewiesen wurde. Therapeutisch sollte die Resektion in sano erfolgen.brGleichwohl sind dabei wegen des oft gebotenen Erhalts der

  20. ROLE OF BONE MARROW ASPIRATION IN DIAGNOSIS OF HAEMATOLOGICAL DISORDER

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    Poonam Nanwani

    2017-03-01

    Full Text Available BACKGROUND The bone marrow examination is an essential investigation for the diagnosis of disorders of the blood and bone marrow. This simple and relatively safe procedure is important, particularly in resource poor centres since access to adjuvant diagnostic techniques are often lacking or absent. MATERIALS AND METHODS 189 patients of all age groups were studied for haematological and non-haematological disorders by bone marrow aspiration in the Department of Pathology, MGM Medical College during the period of 2014 to 2016. RESULTS Majority of the patients who had bone marrow aspiration were aged 0-15 years. The male-to-female ratio was 1:1.03. Most (97% of the marrow aspirate examined had definitive pathologic features, while 14 (7% were normal marrow elements. Out of 189 cases of bone marrow aspiration, acute leukaemia was the most common haematological disease diagnosed using this procedure. Acute lymphoblastic leukaemia was more common than acute myeloid leukaemia. Aplastic anaemia was seen in 16% cases. Megaloblastic anaemia occurred more commonly than other anaemias. Megaloblastic anaemia was seen in 13 cases (7% and microcytic anaemia was seen in 5 cases (3%. There were 10 cases (5% of Idiopathic Thrombocypenic Purpura. Myelodysplastic syndrome and multiple myeloma was seen in 7% and 2% cases respectively. Storage disorder was seen in 3 cases (2%, out of this 02 cases were Gaucher’s disease and one case was Niemann-Pick’s disease. CONCLUSION Bone marrow examination is an important step to arrive at the confirmatory diagnosis of many haematological disorders. This procedure remains a veritable tool in the diagnosis and management of a wide range of haematological diseases, especially in a resource poor centre.

  1. Successful Percutaneous Coronary Intervention through a Severely Bent Artificial Ascending Aorta Using the DIO Thrombus Aspiration Catheter

    Directory of Open Access Journals (Sweden)

    Akinori Fujikake

    2016-01-01

    Full Text Available A 66-year-old man was admitted to our institute because of chest pain. He had undergone replacement of the ascending aorta due to aortic dissection 9 years previously. We made a diagnosis of acute coronary syndrome, and coronary artery angiography was performed. Although the right coronary artery was successfully cannulated, a severe bend of the artificial aorta made it very difficult to advance the catheter into the left coronary artery. Ultimately, a DIO thrombus aspiration catheter was used to enter the left coronary artery, and a stent was implanted successfully. The DIO catheter is very useful when the selection of a guiding catheter is complicated, such as in the case of severe vessel tortuosity or a bend of the ascending aorta.

  2. Efficacy of aspiration in amebic liver abscess.

    Science.gov (United States)

    Ghosh, Jayant Kumar; Goyal, Sundeep Kumar; Behera, Manas Kumar; Tripathi, Manish Kumar; Dixit, Vinod Kumar; Jain, Ashok Kumar; Shukla, Ramchandra

    2015-01-01

    Amebic liver abscess (ALA) is a common and serious problem in our country. There are only a few controlled trials on the efficacy and advantages of combination therapy with percutaneous needle aspiration and pharmacotherapy, over pharmacotherapy alone for amebic liver abscess. This study was conducted to compare the efficacy of two different treatment modalities i.e. drug treatment alone vs. drug treatment and aspiration of abscess cavity in patients with small (up to 5 cm) and large (5 cm to 10 cm) size ALA. This is one of the largest single center, prospective, randomized studies comparing the efficacy of aspiration in ALA. (i) Mean body temperature, liver tenderness, total leukocyte count (TLC), serum alanine aminotransferase (ALT) and liver span were significantly decreased in the aspiration group on days 8 and 15 as compared to non-aspiration group especially in large abscess (5 cm to 10 cm). (ii) Abscess cavity maximum diameter decreased significantly in aspiration group on days 8 and 15, and 1 month & 3 months in large abscess (5cm to 10 cm). (i) Needle aspiration along with metronidazole hastens clinical improvement especially in large (5 cm up to 10 cm) cavities in patients with ALA. (ii) Aspiration is safe and no major complications occurred. (iii) Hence, combination therapy should be the first choice especially in large ALA (5 cm to 10 cm).

  3. Aspiration Curettage and its Outpatient Usage

    African Journals Online (AJOL)

    Aspiration Curettage and its Outpatient Usage. D. A. G. BARFORD, M, NOTELOVITZ. SUMMARY ... its use on a number of outpatients without anaesthesia is discussed. S. Afr. Med. l., 48, 22 (1974). In order to ... plastic aspiration chamber and suction is applied centrally at the base of the chamber, a cylindrical filter within the.

  4. Shareholders’ expectations, aspiration levels, and mergers

    NARCIS (Netherlands)

    Diecidue, E.; van de Ven, J.; Weitzel, U.

    This paper offers a new explanation of value-reducing mergers and stock market driven takeovers by introducing recent research on aspiration levels and individual decision making under risk. If market valuation constitutes an aspiration level for managers, we show that managers may be tempted to

  5. Riedel thyroiditis: Fine needle aspiration findings of a rare entity.

    Science.gov (United States)

    Weidner, Anna-Sophie; Molina, David; DeSimone, Robert A; Cohen, Marc A; Giorgadze, Tamar; Scognamiglio, Theresa; Hoda, Rana S

    2015-09-01

    Riedel thyroiditis is a rare fibrosing disorder characterized by extension of the fibroinflammatory process beyond the thyroid capsule. Due to the nature of this lesion, fine-needle aspiration often yields scant material and may be interpreted as non-diagnostic. In this report, we describe cytologic features that allow the cytopathologist to favor a diagnosis of Riedel thyroiditis, thereby guiding appropriate further work-up and management. © 2015 Wiley Periodicals, Inc.

  6. Ultrasound-Guided Fine Needle Aspiration Biopsy of the Thyroid

    Science.gov (United States)

    ... Physician Resources Professions Site Index A-Z Ultrasound-Guided Fine Needle Aspiration Biopsy of the Thyroid An ... Aspiration Biopsy of the Thyroid? What is Ultrasound-Guided Fine Needle Aspiration Biopsy of the Thyroid? During ...

  7. Fatal case of hemolytic-uremic syndrome in an adult due to a rare serogroup O91 Entero hemorrhagic Escherichia coli associated with a Clostridium difficile infection. More than meets the eye

    Directory of Open Access Journals (Sweden)

    Thomas Guillard

    2015-08-01

    Full Text Available Hemolytic-uremic syndrome due to enterohemorrhagic Escherichia coli, belonging to serogroup O91 has rarely been described. We report here a case of post-diarrheal HUS due to EHEC O91 in an elderly patient for whom diagnosis was delayed given a previously diagnosed C. difficile infection. This case highlights the usefulness of Shiga-toxin detection.

  8. Aspiration-related organizing pneumonia complicating laparoscopic adjustable gastric banding: A lung cancer mimicker

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    Ahmed A Aljohaney

    2016-01-01

    Full Text Available There are several described pulmonary complications due to laparoscopic adjustable gastric banding. We report a rare case of a 32-year-old male who presented with pulmonary symptoms and a solitary lung mass 12 years after laparoscopic adjustable gastric banding. A bronchoscopic lung biopsy showed organizing pneumonia that was induced by aspiration pneumonia. The atypical radiological appearance of the aspiration pneumonia may pose a diagnostic challenge, and clinicians' awareness regarding such an entity is needed to avoid unnecessary intervention.

  9. Aspirated Compressors for High Altitude Engines, Phase I

    Data.gov (United States)

    National Aeronautics and Space Administration — Aurora Flight Sciences proposes to incorporate aspirated compressor technology into a high altitude, long endurance (HALE) concept engine. Aspiration has been proven...

  10. Aspiration pneumonia in patients with cleft palate

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Seung Hun; Choi, Yo Won; Jeon, Seok Chol; Park, Choong Ki; Uhm, Ki Il [Hanyang University College of Medicine, Seoul (Korea, Republic of)

    2003-03-01

    To assess the incidence of aspiration pneumonia in infants with cleft palate and to compare the incidence between complete and incomplete types of cleft palate. A review of medical records revealed 100 infants who had undergone initial surgery to repair cleft palate in our hospital during a recent three-year period. Aspiration pneumonia was defined as the coexistence of pneumonia at chest radiography with a history of frequent choking during feeding. The anatomic distribution of aspiration pneumonia was analyzed, and the incidences of aspiration pneumonia in infants with complete and incomplete cleft palate were compared. Among 100 children, aspiration pneumonia was found in 35 (35%). Those with complete and incomplete cleft palate showed similar incidences of the condition (27 of 70 [39%] vs 8 of 30 [27%], p=0.36). Pneumonia was most commonly seen in the left lower lobe (11 of 35), followed by the right upper and lower lobes. Aspiration pneumonia is frequently associated with infants with cleft palate. There is no statistical difference in the incidence of aspiration pneumonia between the complete and the incomplete cleft palate group.

  11. Aspiration pneumonia in patients with cleft palate

    International Nuclear Information System (INIS)

    Lee, Seung Hun; Choi, Yo Won; Jeon, Seok Chol; Park, Choong Ki; Uhm, Ki Il

    2003-01-01

    To assess the incidence of aspiration pneumonia in infants with cleft palate and to compare the incidence between complete and incomplete types of cleft palate. A review of medical records revealed 100 infants who had undergone initial surgery to repair cleft palate in our hospital during a recent three-year period. Aspiration pneumonia was defined as the coexistence of pneumonia at chest radiography with a history of frequent choking during feeding. The anatomic distribution of aspiration pneumonia was analyzed, and the incidences of aspiration pneumonia in infants with complete and incomplete cleft palate were compared. Among 100 children, aspiration pneumonia was found in 35 (35%). Those with complete and incomplete cleft palate showed similar incidences of the condition (27 of 70 [39%] vs 8 of 30 [27%], p=0.36). Pneumonia was most commonly seen in the left lower lobe (11 of 35), followed by the right upper and lower lobes. Aspiration pneumonia is frequently associated with infants with cleft palate. There is no statistical difference in the incidence of aspiration pneumonia between the complete and the incomplete cleft palate group

  12. Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.

    Science.gov (United States)

    Barbaro, Vanessa; Nasti, Annamaria Assunta; Raffa, Paolo; Migliorati, Angelo; Nespeca, Patrizia; Ferrari, Stefano; Palumbo, Elisa; Bertolin, Marina; Breda, Claudia; Miceli, Francesco; Russo, Antonella; Caenazzo, Luciana; Ponzin, Diego; Palù, Giorgio; Parolin, Cristina; Di Iorio, Enzo

    2016-08-01

    : Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare autosomal dominant disease caused by mutations in the p63 gene. To date, approximately 40 different p63 mutations have been identified, all heterozygous. No definitive treatments are available to counteract and resolve the progressive corneal degeneration due to a premature aging of limbal epithelial stem cells. Here, we describe a unique case of a young female patient, aged 18 years, with EEC and corneal dysfunction, who was, surprisingly, homozygous for a novel and de novo R311K missense mutation in the p63 gene. A detailed analysis of the degree of somatic mosaicism in leukocytes from peripheral blood and oral mucosal epithelial stem cells (OMESCs) from biopsies of buccal mucosa showed that approximately 80% were homozygous mutant cells and 20% were heterozygous. Cytogenetic and molecular analyses excluded genomic alterations, thus suggesting a de novo mutation followed by an allelic gene conversion of the wild-type allele by de novo mutant allele as a possible mechanism to explain the homozygous condition. R311K-p63 OMESCs were expanded in vitro and heterozygous holoclones selected following clonal analysis. These R311K-p63 OMESCs were able to generate well-organized and stratified epithelia in vitro, resembling the features of healthy tissues. This study supports the rationale for the development of cultured autologous oral mucosal epithelial stem cell sheets obtained by selected heterozygous R311K-p63 stem cells, as an effective and personalized therapy for reconstructing the ocular surface of this unique case of EEC syndrome, thus bypassing gene therapy approaches. This case demonstrates that in a somatic mosaicism context, a novel homozygous mutation in the p63 gene can arise as a consequence of an allelic gene conversion event, subsequent to a de novo mutation. The heterozygous mutant R311K-p63 stem cells can be isolated by means of clonal analysis and given their good regenerative

  13. Oocyte cryopreservation for fertility preservation in postpubertal female children at risk for premature ovarian failure due to accelerated follicle loss in Turner syndrome or cancer treatments.

    Science.gov (United States)

    Oktay, K; Bedoschi, G

    2014-12-01

    To preliminarily study the feasibility of oocyte cryopreservation in postpubertal girls aged between 13 and 15 years who were at risk for premature ovarian failure due to the accelerated follicle loss associated with Turner syndrome or cancer treatments. Retrospective cohort and review of literature. Academic fertility preservation unit. Three girls diagnosed with Turner syndrome, 1 girl diagnosed with germ-cell tumor. and 1 girl diagnosed with lymphoblastic leukemia. Assessment of ovarian reserve, ovarian stimulation, oocyte retrieval, in vitro maturation, and mature oocyte cryopreservation. Response to ovarian stimulation, number of mature oocytes cryopreserved and complications, if any. Mean anti-müllerian hormone, baseline follical stimulating hormone, estradiol, and antral follicle counts were 1.30 ± 0.39, 6.08 ± 2.63, 41.39 ± 24.68, 8.0 ± 3.2; respectively. In Turner girls the ovarian reserve assessment indicated already diminished ovarian reserve. Ovarian stimulation and oocyte cryopreservation was successfully performed in all female children referred for fertility preservation. A range of 4-11 mature oocytes (mean 8.1 ± 3.4) was cryopreserved without any complications. All girls tolerated the procedure well. Oocyte cryopreservation is a feasible technique in selected female children at risk for premature ovarian failure. Further studies would be beneficial to test the success of oocyte cryopreservation in young girls. Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  14. Late changes in barium sulfate aspiration: HRCT features

    International Nuclear Information System (INIS)

    Voloudaki, A.; Ergazakis, N.; Gourtsoyiannis, N.

    2003-01-01

    Aspiration of barium sulfate occurs accidentally. Lung reaction is usually mild in the early phase due to inert character of the substance and long-term reactions or late toxicities are not expected. Little if any fibrotic response is speculated. We present a case with barium aspiration, studied by high-resolution computed tomography (HRCT) 1 year after the event, as late pulmonary sequelae studied by CT have not been described yet, to the best of our knowledge. The HRCT revealed thickened interlobular septa, subpleural lines, subpleural cysts, and centrilobular micronodules along with barium particles in a subpleural distribution. Those findings indicated that barium is capable of producing mild though silent clinically fibrosis. (orig.)

  15. Pneumomediastinum caused by foreign body aspiration in children

    International Nuclear Information System (INIS)

    Burton, E.M.; Riggs, W.W.; Houston, C.S.

    1988-01-01

    In a retrospective review of 155 children with tracheobronchial foreign body aspiration (FBA) at LeBonheur Children's Hospital in Memphis, ten patients had pneumomediastinum (PMD) on an initial chest radiograph. Nine of ten presented with PMD, and one had PMD noted after bronchoscopy. In nine, the aspirated object was a nut. In addition to PMD, atelectasis was present in three patients; associated unilateral hyperinflation was present in three, and pneumothorax was present in one patient. In nine patients, PMD was extensive and was associated with obvious interstitial emphysema extending into the axilla or lower neck. Eight patients were less than 2 years of age. In young children, FBA is the most important cause of PMD, as it is relatively common and completely curable. In a child less than 2 years of age with no history of trauma, the radiographic finding of PMD should be considered to be due to FBA until proved otherwise

  16. Ultrasound guided percutaneous fine needle aspiration biopsy ...

    African Journals Online (AJOL)

    )-guided percutaneous fine needle aspiration biopsy (PFNAB)/US-guided percutaneous needle core biopsy (PNCB) of abdominal lesions is efficacious in diagnosis, is helpful in treatment choice, to evaluate whether various other investigations ...

  17. Combined assessment (aspiration cytology and mammography) of ...

    African Journals Online (AJOL)

    Combined assessment (aspiration cytology and mammography) of clinically suspicious breast masses. W.F. van Wyk, D Dent, E Anne Hacking, Genevieve Learmonth, R.E. Kottler, C Anne Gudgeon, A Tiltman ...

  18. Radiological differential diagnosis in chronic aspiration pneumonia

    International Nuclear Information System (INIS)

    Hannig, C.; Wuttge-Hannig, A.; Hoermann, M.; Herrmann, I.F.; Neurologische Klinik Muenchen Tristanstrasse; Wuerzburg Univ.

    1989-01-01

    6% of all patients suffering from a cerebro-vascular injury die from aspiration pneumonia within the first year. The high temporal resolution of high-speed cineradiography (HFK) (50 frames/sec.) allows the recording of the 0.7 sec. process of pharyngeal swallow. Five case-examples are presented (total number of cases: 95) illustrating the possibility of differentiation between three types of aspiration by means of cineradiography. These types are the so-called pre-, intra- and postdeglutitive aspiration, that is aspiration before or after triggering of the swallowing reflex. This differentiation is of great therapeutic importance. The analysis of disturbances of pharyngo-laryngeal motility and the temporal coordination allows setting up individual surgical and/or conservative programme for rehabilitation. (orig.) [de

  19. Fine needle aspiration cytology of cervicofacial actinomycosis

    Directory of Open Access Journals (Sweden)

    Venkatesh Kusuma

    2008-01-01

    Full Text Available Actinomycosis is a chronic infection caused by Actinomyces israelii, usually seen in immunocompromised patients or in the background of tissue injury. Cervicofacial actinomycosis presenting as a fixed jaw swelling in an elderly individual can mimic malignancy and pose a diagnostic dilemma. We report here a case of cervicofacial actinomycosis diagnosed by fine needle aspiration, along with a review of the relevant literature. A 60 year-old man presented with a gradually increasing 6 x 5 cm swelling in the left side of his jaw. The swelling was fixed, without any apparent sinus or abscess. Fine needle aspiration was diagnostic as it revealed colonies of actinomyces surrounded by polymorphs and chronic inflammatory cells. The histopathological study of the excised specimen confirmed the cytological findings. Fine needle aspiration is an effective tool in the diagnosis of actinomycosis although its documentation is rare. Difficulties in the management can be avoided by early diagnosis using the fine needle aspiration technique.

  20. Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)

    DEFF Research Database (Denmark)

    Yuca, Sevil Ari; Rendtorff, Nanna Dahl; Boulahbel, Houda

    2012-01-01

    Wolfram syndrome, also named "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an inherited association of juvenile-onset diabetes mellitus and optic atrophy as key diagnostic criteria. Renal tract abnormalities and neurodegenerative disorder may occur in the third...... and fourth decade. The wolframin gene, WFS1, associated with this syndrome, is located on chromosome 4p16.1. Many mutations have been described since the identification of WFS1 as the cause of Wolfram syndrome. We identified a new homozygous WFS1 mutation (c.1532T>C; p.Leu511Pro) causing Wolfram syndrome...

  1. Neutrophil extracellular traps contribute to the pathogenesis of acid-aspiration-induced ALI/ARDS.

    Science.gov (United States)

    Li, Haitao; Zhou, Xiaoting; Tan, Hongyi; Hu, Yongbin; Zhang, Lemeng; Liu, Shuai; Dai, Minhui; Li, Yi; Li, Qian; Mao, Zhi; Pan, Pinhua; Su, Xiaoli; Hu, Chengpin

    2018-01-05

    Acute lung injury/acute respiratory distress syndrome (ALI/ARDS) is a manifestation of systemic inflammation in the lungs, but the factors that trigger inflammation in ALI/ARDS are unclear. We hypothesized that neutrophil extracellular traps (NETs) contribute to the pathogenesis of acid aspiration-induced ALI/ARDS. Analysis of bronchial aspirates from ARDS patients showed that NETs were significantly correlated with the degree of ARDS (r = -0.5846, p = 0.0359). NETs in bronchoalveolar lavage fluid of acid-aspiration mice were significantly higher (141.6 ± 23.08) at 3 h after injury than those in the sham group (1234 ± 101.9; p = 0.003, n = 5 per group). Exogenous NETs aggravated lung injury, while alvelestat and DNase markedly attenuated the intensity of ARDS. We investigated whether NETs are involved in the severity of gastric aspiration-induced ARDS. Then, a hydrochloric acid aspiration-induced ALI murine model was used to assess whether NETs are pathogenic and whether targeting NETs is protective. Exogenous NETs were administered to mice. Alvelestat can inhibit neutrophil elastase (NE), which serves an important role in NET formation, so we investigated whether alvelestat could protect against ALI in cell and mouse models. NETs may contribute to ALI/ARDS by promoting tissue damage and systemic inflammation. Targeting NETs by alvelestat may be a potential therapeutic strategy.

  2. Huge bilateral ovarian cysts in adulthood as the presenting feature of Van Wyk Grumbach syndrome due to chronic uncontrolled juvenile hypothyroidism

    Directory of Open Access Journals (Sweden)

    K S Shivaprasad

    2013-01-01

    Full Text Available Juvenile primary hypothyroidism causing cystic ovaries and pseudoprecocious puberty (Van-Wyk Grumbach syndrome (VWGS is well documented in literature. There are only a few reports of primary hypothyroidism presenting as ovarian cysts in adults. Here we present a case of huge bilateral ovarian cysts in adulthood as the presenting feature of VWGS due to chronic uncontrolled juvenile hypothyroidism. Large uniloculor right ovarian cyst (119 × 81 × 90 mm and a multicystic left ovary (55 × 45 × 49 mm were detected in a 24 year lady with secondary amenorrhea, galactorrhea, and palpable abdominal mass with history of neonatal jaundice, delayed milestones, short stature, and precocious menarche at age of 7.5 years age. She had elevated levels of cancer antigen (CA-125 which normalized post levothyroxine supplementation. Elevated CA-125 may lead to misdiagnosis of ovarian carcinoma and inadvertent treatment. Bilateral ovarian cysts in adults are a rare presentation of juvenile hypothyroidism. It is necessary to screen for primary hypothyroidism in patients presenting with bilateral ovarian cysts to prevent unnecessary evaluation and treatment.

  3. Imaging mass spectrometry visualizes ceramides and the pathogenesis of dorfman-chanarin syndrome due to ceramide metabolic abnormality in the skin.

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    Naoko Goto-Inoue

    Full Text Available Imaging mass spectrometry (IMS is a useful cutting edge technology used to investigate the distribution of biomolecules such as drugs and metabolites, as well as to identify molecular species in tissues and cells without labeling. To protect against excess water loss that is essential for survival in a terrestrial environment, mammalian skin possesses a competent permeability barrier in the stratum corneum (SC, the outermost layer of the epidermis. The key lipids constituting this barrier in the SC are the ceramides (Cers comprising of a heterogeneous molecular species. Alterations in Cer composition have been reported in several skin diseases that display abnormalities in the epidermal permeability barrier function. Not only the amounts of different Cers, but also their localizations are critical for the barrier function. We have employed our new imaging system, capable of high-lateral-resolution IMS with an atmospheric-pressure ionization source, to directly visualize the distribution of Cers. Moreover, we show an ichthyotic disease pathogenesis due to abnormal Cer metabolism in Dorfman-Chanarin syndrome, a neutral lipid storage disorder with ichthyosis in human skin, demonstrating that IMS is a novel diagnostic approach for assessing lipid abnormalities in clinical setting, as well as for investigating physiological roles of lipids in cells/tissues.

  4. A Case of Cushing’s Syndrome due to Ectopic Adrenocorticotropic Hormone Secretion from Esthesioneuroblastoma with Long Term Follow-Up after Resection

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    Leslee N. Matheny

    2018-01-01

    Full Text Available We present a case of a 52-year-old male who developed Cushing’s Syndrome due to ectopic adrenocorticotrophic hormone (ACTH secretion from a large esthesioneuroblastoma (ENB of the nasal sinuses. The patient initially presented with polyuria, polydipsia, weakness, and confusion. Computed tomography scan of the head and magnetic resonance imaging showed a 7 cm skull base mass centered in the right cribriform plate without sella involvement. Work-up revealed ACTH-dependent hypercortisolemia, which did not suppress appropriately after high-dose dexamethasone. Subsequent imaging of the chest, abdomen, and pelvis did not reveal other possible ectopic sources of ACTH secretion besides the ENB. His hospital course was complicated by severe hypokalemia and hyperglycemia before successful surgical resection of the tumor, the biopsy of which showed ENB. Postoperatively, his ACTH level dropped below the limit of detection. In the ensuing 4 months, he underwent adjuvant chemoradiation with carboplatin and docetaxel with good response and resolution of hypokalemia and hyperglycemia, with no sign of recurrence as of 30 months postoperatively. His endogenous cortisol production is rising but has not completely recovered.

  5. DRG Spinal Cord Stimulation as Solution for Patients With Severe Pain Due to Anterior Cutaneous Nerve Entrapment Syndrome: A Case Series.

    Science.gov (United States)

    Mol, Frédérique Mathilde Ulrike; Roumen, Rudi M H

    2018-04-01

    Anterior Cutaneous Nerve Entrapment Syndrome (ACNES) is a debilitating neuropathic pain condition. A small portion of patients do not respond to any currently available treatment modalities. These patients, often young women, might benefit from targeted spinal cord stimulation of the dorsal root ganglion (DRG). This retrospective case series describes five ACNES patients who were referred from a Dutch dedicated tertiary referral center to collaborating sites with extensive experience in DRG stimulation to be implanted with a DRG Axium System (St. Jude/Abbott, IL, USA) in the period of 2013-2016. Numeric pain rating scores at routine 6- and 12-month follow-up visits were analyzed. Three patients experienced >50% pain reduction at 12 months follow-up. Four patients experienced device-related complications, such as lead dislocation, lead breakage, pain at the battery site, and overstimulation. This case series suggests DRG spinal cord stimulation can be safe and effective for some patients with persistent pain due to ACNES. © 2017 International Neuromodulation Society.

  6. Unique Preservation of Neural Cells in Hutchinson- Gilford Progeria Syndrome Is Due to the Expression of the Neural-Specific miR-9 MicroRNA

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    Xavier Nissan

    2012-07-01

    Full Text Available One puzzling observation in patients affected with Hutchinson-Gilford progeria syndrome (HGPS, who overall exhibit systemic and dramatic premature aging, is the absence of any conspicuous cognitive impairment. Recent studies based on induced pluripotent stem cells derived from HGPS patient cells have revealed a lack of expression in neural derivatives of lamin A, a major isoform of LMNA that is initially produced as a precursor called prelamin A. In HGPS, defective maturation of a mutated prelamin A induces the accumulation of toxic progerin in patient cells. Here, we show that a microRNA, miR-9, negatively controls lamin A and progerin expression in neural cells. This may bear major functional correlates, as alleviation of nuclear blebbing is observed in nonneural cells after miR-9 overexpression. Our results support the hypothesis, recently proposed from analyses in mice, that protection of neural cells from progerin accumulation in HGPS is due to the physiologically restricted expression of miR-9 to that cell lineage.

  7. Hyperinsulinaemic hypoglycaemia in Beckwith-Wiedemann syndrome (BWS) due to defects in the function of pancreatic ß-cell ATP-sensitive K+ channels

    DEFF Research Database (Denmark)

    Hussain, K; Cosgrove, K E; Shepherd, R M

    2005-01-01

    Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome that is clinically and genetically heterogeneous. Hyperinsulinemic hypoglycemia occurs in about 50% of children with BWS and, in the majority of infants, it resolves spontaneously. However, in a small group of patients...... the hypoglycemia can be persistent and may require pancreatectomy. The mechanism of persistent hyperinsulinemic hypoglycemia in this group of patients is unclear....

  8. Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe

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    Josef Finsterer

    2016-09-01

    Conclusion: Phenotypic manifestations of Carvajal syndrome are even broader than so far anticipated, the number of mutations in the desmoplakin gene responsible for Carvajal syndrome is still increasing, and these patients require implantation of an ICD as soon as their diagnosis is established.

  9. Methotrexate-induced side effects are not due to differences in pharmacokinetics in children with Down syndrome and acute lymphoblastic leukemia

    NARCIS (Netherlands)

    Buitenkamp, Trudy D.; Mathôt, Ron A. A.; de Haas, Valerie; Pieters, Rob; Zwaan, C. Michel

    2010-01-01

    Children with Down syndrome have an increased risk of developing acute lymphoblastic leukemia and a poor tolerance of methotrexate. This latter problem is assumed to be caused by a higher cellular sensitivity of tissues in children with Down syndrome. However, whether differences in pharmacokinetics

  10. Scintigraphic diagnosis of silent aspiration following double-sided lung transplantation; Szintigraphischer Nachweis einer stillen Aspiration nach beidseitiger Lungentransplantation

    Energy Technology Data Exchange (ETDEWEB)

    Toenshoff, G. [Kiel Univ. (Germany). Klinik fuer Nuklearmedizin; Stock, U. [Kiel Univ. (Germany). Klinik fuer Herz- und Gefaesschirurgie; Bohuslavizki, K.H. [Kiel Univ. (Germany). Klinik fuer Nuklearmedizin; Brenner, W. [Kiel Univ. (Germany). Klinik fuer Nuklearmedizin; Costard-Jaeckle, A. [Kiel Univ. (Germany). Klinik fuer Herz- und Gefaesschirurgie; Cremer, J. [Kiel Univ. (Germany). Klinik fuer Herz- und Gefaesschirurgie; Clausen, M. [Kiel Univ. (Germany). Klinik fuer Nuklearmedizin

    1996-08-01

    We present a case of a 25 year old patient who underwent double-sided lung transplantation and suffered from recurrent pneumonia. Silent aspiration was suspected clinically. Aspiration was proved by scintigraphy enabling to discriminate between direct oro-pulmonal aspiration and aspiration after gastro-esophageal reflux. (orig.) [Deutsch] Vorgestellt wird der Fall einer 25jaehrigen Patientin nach beidseitiger Lungentransplantation und rezidivierenden Pneumonien. Klinisch bestand der Verdacht auf eine stille Aspiration. Szintigraphisch gelang sowohl der Aspirationsnachweis als auch eine Differenzierung hinsichtlich der Genese: Direkte oro-pulmonale Aspiration versus Aspiration nach gastrooesophagealem Reflux. (orig.)

  11. Patients with Long QT Syndrome Due to Impaired hERG-encoded Kv11.1 Potassium Channel Have Exaggerated Endocrine Pancreatic and Incretin Function Associated with Reactive Hypoglycemia

    DEFF Research Database (Denmark)

    Hyltén-Cavallius, Louise; Iepsen, Eva W; Wewer Albrechtsen, Nicolai J

    2017-01-01

    Background -Loss-of-function mutations in hERG (encoding the Kv11.1 voltage-gated potassium channel) cause long QT syndrome (LQT2) due to prolonged cardiac repolarization. However, Kv11.1 is also present in pancreatic α and β cells and intestinal L and K cells, secreting glucagon, insulin, and th...

  12. Aspiring and Aspiration Shaming: Primary Schooling, English, and Enduring Inequalities in Liberalizing Kerala (India)

    Science.gov (United States)

    Mathew, Leya

    2018-01-01

    This paper analyzes narratives about the radical socio-economic changes accompanying liberalization in India to consider how English-medium schooling is becoming an aspirational resource for non-elite parents. I suggest that aspiring is a practice of ethics that marginalized mothers mobilize to negotiate memories of deprivation and yearnings for…

  13. Intussusception due to Peutz-Jeghers syndrome - a case report and review of the literature; Sindrome de Peutz-Jeghers e intussuscepcao - relato de um caso e revisao da literatura

    Energy Technology Data Exchange (ETDEWEB)

    Grasso Filho, Luiz Eduardo; Albertotti, Flavio; Carvalho, Claudio Sobral de; Nersessian, Ana Carolina; Docema, Marcos F. Lima; Ogasawara, Aparecida M.; Peng Yong Sheng [Hospital Sirio Libanes, Sao Paulo, SP (Brazil). Centro de Diagnostico por Imagem; Costacurta, Marco Antonio [Hospital Sirio Libanes, Sao Paulo, SP (Brazil). Servico de Radiologia Geral; Albertotti, Cesar Jose [Hospital Sirio Libanes, Sao Paulo, SP (Brazil). Servico de Tomografia Computadorizada; Cerri, Giovanni Guido [Hospital Sirio Libanes, Sao Paulo, SP (Brazil). Servico de Ultra-Som

    2000-02-01

    The authors report a case of a 28-year-old woman with ileocecocolic intussusception due to Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by hamartomatous polyposis of the gastrointestinal tract and mucocutaneous pigmentation. This condition frequently presents complications such as intestinal obstruction due to invagination or hemorrhage. In this patient, the diagnosis of intussusception was made preoperatively. The excised material revealed three large polyps which were considered to be the cause of the intussusception. (author)

  14. Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat.

    Science.gov (United States)

    Matsubara, K; Murakami, N; Fukami, M; Kagami, M; Nagai, T; Ogata, T

    2016-05-01

    Recent studies have suggested that disomic oocyte-mediated uniparental disomy 15 (UPD(15)mat) is increased in patients with Prader-Willi syndrome (PWS) born after medically assisted reproduction (MAR). However, it remains unknown whether the increase is primarily due to MAR procedure itself or advanced maternal childbearing ages as a predisposing factor for the disomic oocyte production. To examine this matter, we studied 122 naturally conceived PWS patients (PWS-NC group) and 13 MAR-conceived patients (PWS-MAR group). The relative frequency of disomic oocyte-mediated UPD(15)mat was significantly higher in PWS-MAR group than in PWS-NC group (7/13 vs 20/122, p = 0.0045), and the maternal childbearing ages were significantly higher in PWS-MAR group than in PWS-NC group [median (range), 38 (26-45) vs 30 (19-42), p = 0.0015]. However, the logistic regression analysis revealed no significant association between the occurrence of disomic oocyte-mediated UPD(15)mat and MAR, after adjusting for childbearing age (p = 0.25). Consistent with this, while the frequency of assisted reproductive technology (ART)-conceived livebirths was higher in the PWS patients than in the Japanese general population (6.4% vs 1.1%, p = 0.00018), the distribution of childbearing ages was significantly skewed to the increased ages in the PWS patients (p < 2.2 × 10(-16) ). These results argue against a positive association of MAR procedure itself with the development of UPD(15)mat. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  15. Aspiration Deaths Among Adults in Istanbul

    Directory of Open Access Journals (Sweden)

    Haşim Asil

    2014-06-01

    Full Text Available Massive aspiration of food is rare, but most common in people under the influence of alcohol or a drug and comatose patients who have impaired functioning of the central nervous system. The finding of small amounts of food material in the airway at autopsy does not indicate the true vital aspiration because of agonal or even early post-mortem overspills. Occlusion of the small airways, mainly the membranous and respiratory bronchioles, partial or total filling of bronchiolar lumen and the alveolar spaces with food or gastric content were typical morphologic findings. In our 10 year retrospective study we presented the data of 21 male and 4 female cases with a final diagnosis of fatal aspiration in age from 23 to 78 years (45.43±14.61 from the records of Morgue Specialization Department of the Council of Forensic Medicine. 13 cases found death at the scene without an eyewitness. All deaths were accidental in manner except one homicide. Toxicological analysis revealed blood alcohol concentration levels between 161 and 339 mg/dL in 7 cases. Morphine metabolites, benzodiazepine and barbituric acid derivatives, toluene and acetone were detected in 5 subjects. Aspirated materials were food in 14 cases, chewing gum in 3 cases, gastric content in 7 cases and a fabric gag in one case. The history, other evidence of external vomit on the clothing or immediate surroundings and toxicological analysis are by no means as significant as autopsy findings especially in cases of aspiration. Key words : adult; aspiration; death; autopsy

  16. Glottal insufficiency with aspiration risk in dysphagia.

    Science.gov (United States)

    Giraldez-Rodriguez, Laureano A; Johns, Michael

    2013-12-01

    Glottal closure is an important part of the mechanism that protects the airway during the normal swallow. Glottal insufficiency disrupts glottal closure and therefore puts patients at risk of aspiration. Treatment of glottal insufficiency can be classified as surgical or nonsurgical. The objective of treating glottal insufficiency is to avoid aspiration or penetration of secretions or food into the airway. Nonsurgical treatment consists of swallowing maneuvers and other measures. Surgical treatment of glottal insufficiency includes injection laryngoplasty, medialization thyroplasty with or without arytenoid adduction or with arytenopexy and cricothyroid subluxation, hypopharyngoplasty, cricopharynx muscle dilation, and cricopharynx myotomy. Copyright © 2013 Elsevier Inc. All rights reserved.

  17. The sweet lung: Chewing gummi bear aspiration.

    Science.gov (United States)

    Tavladaki, Theonimfi; Fitrolaki, Michaela-Diana; Spanaki, Anna-Maria; Ilia, Staurula; Geromarkaki, Elissabet; Briassoulis, George

    2012-07-01

    Inhalation of foreign bodies, a leading cause of accidental death, is most common in preschool children. In this article we report our experience with a 5-year-old Greek girl who presented with a 24-hour history of sore throat, chest pain, and shortness of breath. Emergency bronchoscopy was performed and multiple small chewing gummi bear (HARIBO) particles impacted in the orifices of the right main bronchus and right lobar and segmentalinic bronchi were successfully removed and aspirated. Aspiration of gummi bears, which is for the first time reported, may cause a silent choking episode leading to life-threatening bronchi obstruction at multiple sites, even in children older than 4 years.

  18. Dravets syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention...... to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations. Udgivelsesdato: 2010-Feb-22...

  19. Endogenous Cushing’s Syndrome with Precocious Puberty in an 8-Year-Old Boy due to a Large Unilateral Adrenal Adenoma

    Directory of Open Access Journals (Sweden)

    Muhammad Rajib Hossain

    2013-01-01

    Full Text Available Adrenocortical tumors (ACTs causing Cushing’s syndrome are extremely rare in children and adolescents. Bilateral macronodular adrenocortical disease which is a component of the McCune-Albright syndrome is the most common cause of endogenous Cushing’s syndrome. We report the case of a boy with Cushing’s syndrome who presented with obesity and growth retardation. The child was hypertensive. The biochemical evaluation revealed that his serum cortisol levels were 25.80 g/dL, with a concomitant plasma ACTH level of 10.0 pg/mL and nonsuppressed serum cortisol on high-dose dexamethasone suppression test (HDDST to be 20.38 g/dL. Computed tomography of the abdomen demonstrated a 8 × 6 × 5 cm left adrenal mass with internal calcifications. Following preoperative stabilization, laparotomy was carried out which revealed a lobulated left adrenal mass with intact capsule weighing 120 grams. Histopathological examination revealed a benign cortical neoplastic lesion, suggestive of adrenal adenoma; composed of large polygonal cells with centrally placed nuclei and prominent nucleoli without capsular and vascular invasion. On the seventh postoperative day, cortisol levels were within normal range indicating biochemical remission of Cushing’s syndrome. On followup after three months, the patient showed significant clinical improvement and had lost moderate amount of weight and adrenal imaging was found to be normal.

  20. MELAS and Kearns–Sayre overlap syndrome due to the mtDNA m. A3243G mutation and large-scale mtDNA deletions

    Directory of Open Access Journals (Sweden)

    Nian Yu

    2016-09-01

    Full Text Available This paper reported an unusual manifestation of a 19-year-old Chinese male patient presented with a complex phenotype of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS syndrome and Kearns–Sayre syndrome (KSS. He was admitted to our hospital with the chief complaint of “acute fever, headache and slow reaction for 21 days”. He was initially misdiagnosed as “viral encephalitis”. This Chinese man with significant past medical history of intolerating fatigue presented paroxysmal neurobehavioral attacks that started about 10 years ago. During this span, 3 or 4 attack clusters were described during which several attacks occurred over a few days. The further examination found that the hallmark signs of this patient included progressive myoclonus epilepsy, cerebellar ataxia, hearing loss, myopathic weakness, ophthalmoparesis, pigmentary retinopathy and bifascicular heart block (Wolff–Parkinson–White syndrome. By young age the disease progression is characterized by the addition of migraine, vomiting, and stroke-like episodes, symptoms of MELAS expression, which indicated completion of the MELAS/KSS overlap syndrome. The m. A3243G mitochondrial DNA mutation and single large-scale mtDNA deletions were found in this patient. This mutation has been reported with MELAS, KSS, myopathy, deafness and mental disorder with cognitive impairment. This is the first description with a MELAS/KSS syndrome in Chinese.

  1. Microaspiration Syndrome in Pediatric Practice: Modern Features and Role in Bronchial Obstruction Syndrome Formation

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    S.I. Ilchenko

    2016-10-01

    Full Text Available The paper presents the data on research of aspiration syndrome prevalence among young children treated in the City children’s pulmonary department due to protracted course of obstructive bronchitis. The structure of microaspiration reasons in young children was studied (2010–2015. The most significant reasons of microaspiration syndrome development were revealed depending on children age. Modified questionnaire for the parents was used to collect anamnesis effectively. The children with perinatal impairment of nervous system, preterm children, and the children with morphological and physio­logical nasopharyngeal defects, with muscular dystonia are firstly in risk group for microaspiration syndrome. Microaspiration may manifest with frequent regurgitation, vomiting during cough, meal leaking from the nose, correlation of coughing fit with feeding, exacerbation or development of coughing in prone position, fit of night coughing and asphyxia, long-term hacking after cough attack. Pediatricians are recommended to observe attentively their patients during each feeding as dysphagy could be inconstant. Microaspiration syndrome is a challenging for diagnosis and requires complex approach, as mostly diagnostic procedures are invasive. Timely diagnosis and treatment of microaaspiration syndrome allow decrease respiratory diseases rate in young children and reduce obstructive bronchitis duration.

  2. A Case Associated with Comorbidities Among Cerebral Infarction, Idiopathic Thrombocytopenic Purpura, and Triple X Syndrome

    Directory of Open Access Journals (Sweden)

    Hanjun Kim

    2014-06-01

    Full Text Available A 46-year-old female presented to the emergency room due to the chief complaint of left-sided weakness. By imaging study, she was diagnosed with cerebral infarction. Thrombolytic and antiplatelet agents were not considered due to the “golden hour” for treatment having passed and a low platelet count. The peripheral blood smear, bone marrow biopsy, and aspirate findings were consistent with immune thrombocytopenic purpura. The chromosome analysis revealed the 47,XXX karyotype. To the best of our knowledge, this is the first case report associated with the comorbidities of cerebral infarction, idiopathic thrombocytopenic purpura, and triple X syndrome.

  3. Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.

    Science.gov (United States)

    Ratbi, Ilham; Jaouad, Imane Cherkaoui; Elorch, Hamza; Al-Sheqaih, Nada; Elalloussi, Mustapha; Lyahyai, Jaber; Berraho, Amina; Newman, William G; Sefiani, Abdelaziz

    2016-10-01

    Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It is the mildest form known to date of peroxisome biogenesis disorder caused by hypomorphic mutations of PEX1 and PEX6 genes. We report on a second Moroccan family with Heimler syndrome with early onset, severe visual impairment and important phenotypic overlap with Usher syndrome. The patient carried a novel homozygous missense variant c.3140T > C (p.Leu1047Pro) of PEX1 gene. As standard biochemical screening of blood for evidence of a peroxisomal disorder did not provide a diagnosis in the individuals with HS, patients with SNHL and retinal pigmentation should have mutation analysis of PEX1 and PEX6 genes. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  4. Central Anticholinergic Syndrome due to Hypoxia-Induced Bradycardia in a Child with Difficult Intubation Undergoing Complete Dental Restoration: A Case Report.

    Directory of Open Access Journals (Sweden)

    Mohamad Gharavifard

    2014-10-01

    Full Text Available Central anticholinergic syndrome (CAS following general anesthesia (GA is a well known syndrome in children and adults. Many cases of CAS have been previously reported in the literature. However, there are only two reports of post resuscitation CAS after administration of small doses of atropine. Hereby, we report a case of CAS in a child undergoing complete dental restoration under GA after receiving a small dose of atropine to reverse hypoxia induced bradycardia. Intraoperative events such as hypoxia or cardiac arrest may play a role as triggers for CAS. However, we cannot establish a causal relationship between the occurrence of CAS and such critical events.

  5. Central Anticholinergic Syndrome due to Hypoxia-Induced Bradycardia in a Child with Difficult Intubation Undergoing Complete Dental Restoration: A Case Report.

    Science.gov (United States)

    Gharavifard, Mohamad; Razavi, Majid; Ghandehari Motlagh, Mehdi; Ziyaeifard, Mohsen

    2014-09-01

    Central anticholinergic syndrome (CAS) following general anesthesia (GA) is a well known syndrome in children and adults. Many cases of CAS have been previously reported in the literature. However, there are only two reports of post resuscitation CAS after administration of small doses of atropine. Hereby, we report a case of CAS in a child undergoing complete dental restoration under GA after receiving a small dose of atropine to reverse hypoxia induced bradycardia. Intraoperative events such as hypoxia or cardiac arrest may play a role as triggers for CAS. However, we cannot establish a causal relationship between the occurrence of CAS and such critical events.

  6. Female Aspirants to the Roman Catholic Priesthood.

    Science.gov (United States)

    Celmer, Virginia; Winer, Jane L.

    1990-01-01

    Investigated Holland vocational-personality types, job satisfaction, and psychological dysfunction among 85 parish priests, 55 nonparish priests, and 235 women who aspire to, but are barred from, ordination in the Roman Catholic Church. Found women's Holland-type code was most similar to code of clergy member as assigned by Dictionary of Holland…

  7. Identity talk of aspirational ethical leaders

    NARCIS (Netherlands)

    Koning, J.B.M.; Waistell, J.

    2012-01-01

    This study investigates how business leaders dynamically narrate their aspirational ethical leadership identities. In doing so, it furthers understanding of ethical leadership as a process situated in time and place. The analysis focuses on the discursive strategies used to narrate identity and

  8. FOREIGN BODY ASPIRATION: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Nafia Ozlem Kazanci

    2013-03-01

    Full Text Available Foreign body aspiration (FBA is common under 3 years of age. FBA can cause sudden respiratory failure. Furthermore, it leads to many respiratory system complications. Therefore, FBA is an important cause of mortality and morbidity for this age group. FBA cases are usually followed by diagnoses like pneumonia, bronchitis or bronchial asthma in the late period that history, clinical and laboratory findings suggesting foreign body aspiration can not be detected. We reported a 2-year-old male patient with pneumonia, who were administered various treatments. In thorax CT of this case, an image compatible with foreign body was seen in the right middle lobe-upper lobe separation area. Granulation tissue was detected in the entrance of the right main bronchus by rigid bronchoscopy and marked improvement occured in lung aeration after bronchoscopy. This case was reported to emphasize the importance of early diagnosis of foreign body aspiration because of high mortality and morbidity and the necessity of considering the foreign body aspiration in children with recurrent pulmonary infections. [J Contemp Med 2013; 3(1.000: 58-61

  9. 21 CFR 884.1060 - Endometrial aspirator.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Endometrial aspirator. 884.1060 Section 884.1060 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED... endometrium, and (ii) Contraindications: Pregnancy, history of uterine perforation, or a recent cesarean...

  10. Extrapulmonary tuberculosis: Fine needle aspiration cytology ...

    African Journals Online (AJOL)

    Patients and Methods: This is a consecutive 9-year analysis of patients with peripheral lymphadenopathy. All the patients had fine needle aspiration. Smears were made, fixed in 95% alcohol and stained with hematoxylin and eosin and Zeihl Neelsen stains. Results: 48 patients, 31 males and 17 females, were analyzed.

  11. The Trouble with Doctoral Aspiration Now

    Science.gov (United States)

    Burford, James

    2018-01-01

    This article attends to the affective-political dimensions of doctoral aspiration. It considers why doctoral students continue to hope for an 'academic good life' in spite of the depressed and precarious features of the academic present. The article emerges from 2013 research with ten doctoral students in the Arts and Social Sciences, at a…

  12. Women's Aspirations for Graduate Education in Taiwan

    Science.gov (United States)

    Lin, Meng-Jie

    2011-01-01

    This study investigates female undergraduates' aspirations for master's and doctoral degree programs in Taiwan's universalized and stratified higher education system. It considers the potential effects of economic prospects, parental attitudes, and gender values. First, graduate education is perceived as a means to enhance one's comparative…

  13. Income Aspirations and Cooperation : Experimental Evidence

    NARCIS (Netherlands)

    Dalton, P.S.

    2010-01-01

    This article is the first attempt to study the empirical link between income aspirations and cooperation in a one shot public good game. By combining experimental with survey data, we find evidence that the more frustrated people are with their income, the lower is their propensity to cooperate with

  14. Aspirations and occupational achievements of Dutch fathers and mothers

    NARCIS (Netherlands)

    van der Horst, Mariska; van der Lippe, Tanja; Kluwer, Esther

    2014-01-01

    Purpose - To investigate how work and family aspirations relate to occupational achievements and gender differences herein. Design/methodology/approach - Using data from 2009 we examined the relationship between career and childrearing aspirations and occupational achievements of Dutch parents.

  15. Gender and leadership aspiration: the impact of organizational identification

    NARCIS (Netherlands)

    Fritz, C. (Claudia); D.L. van Knippenberg (Daan)

    2017-01-01

    textabstractPurpose: Although nowadays more women occupy leadership roles, they still are a minority. Because aspiration is a precursor of advancement, examining conditions fostering female leadership aspiration is important. A neglected perspective is the impact of organizational identification.

  16. Aspiration pneumonia and bronchopneumonia in progressive supranuclear palsy treated with qing fei tang: two case reports.

    Science.gov (United States)

    Nozaki, Ichiro; Kato-Motozaki, Yuko; Ikeda, Tokuhei; Takahashi, Kazuya; Tagami, Atsuro; Ishida, Chiho; Komai, Kiyonobu

    2015-03-26

    Qing fei tang, which is used for various respiratory diseases, is useful for reducing relapse of aspiration pneumonia and bronchopneumonia in stroke, but the effect remains unknown in Parkinson's syndrome. We report two cases of Japanese patients with progressive supranuclear palsy and relapsing aspiration pneumonia and bronchopneumonia, which was successfully prevented by qing fei tang. Two Japanese men with progressive supranuclear palsy and receiving total enteral feeding (patient one (66-years-old) and patient two (76-years-old)) had experienced recurrent aspiration pneumonia and bronchopneumonia, which was unresponsive to conventional therapy. The respiratory infection developed twice at intervals of two months in patient one, and nine times at almost monthly intervals in patient two. Thereafter, they were given qing fei tang. After administration of qing fei tang, the respiratory infection reoccurred only once; after 5.5 months for patient one, and six months for patient two. Both of our patients clearly showed a reduced incidence of respiratory infection. Both of our patients clearly showed a reduced incidence of respiratory infection after the administration of qing fei tang. Qing fei tang could be useful for the prevention of recurrent aspiration pneumonia and bronchopneumonia in progressive supranuclear palsy.

  17. Aspiration in injections: should we continue or abandon the practice? [version 3; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Yasir Sepah

    2017-03-01

    Full Text Available Aspiration during any kind of injection is meant to ensure that the needle tip is at the desired location during this blind procedure. While aspiration appears to be a simple procedure, it has generated a lot of controversy concerning the perceived benefits and indications. Advocates and opponents of aspiration both make logically sound claims. However, due to scarcity of available data, there is no evidence that this procedure is truly beneficial or unwarranted. Keeping in view the huge number of injections given worldwide, it is important that we draw attention to key questions regarding aspiration that, up till now, remain unanswered. In this review, we have attempted to gather and present literature on aspiration both from published and non-published sources in order to provide not only an exhaustive review of the subject, but also a starting point for further studies on more specific areas requiring clarification. A literature review was conducted using the US National Institute of Health’s PubMed service (including Medline, Google Scholar and Scopus. Guidelines provided by the World Health Organization, Safe Injection Global Network, International Council of Nursing, Center for Disease Control, US Federal Drug Agency, UK National Health Services, British Medical Association, Europe Nursing and Midwifery Council, Public Health Agency Canada, Pakistan Medical Association and International Organization of Standardization recommendations 7886 parts 1-4 for sterile hypodermics were reviewed for relevant information. In addition, curricula of several medical/nursing schools from India, Nigeria and Pakistan, the US pharmacopeia Data from the WHO Program for International Drug Monitoring network in regard to adverse events as a result of not aspirating prior to injection delivery were reviewed. Curricula of selected major medical/nursing schools in India, Nigeria and Pakistan, national therapeutic formularies, product inserts of most commonly

  18. Meconium aspiration syndrome: identifying obstetric and neonatal risk situations

    Directory of Open Access Journals (Sweden)

    Sheila Duarte Mendonça

    2015-07-01

    Full Text Available Objetivo: identificar as situações de risco obstétricas e neonatais que favoreceram a síndrome da aspiração meconial, bem como as complicações na evolução clínica apresentadas por esses neonatos. Métodos: Estudo quantitativo, retrospectivo e de análise documental, realizado entre janeiro de 2009 a dezembro de 2010. Os dados dos 40 prontuários consultados foram registrados em banco de dados e analisados por meio de software para análise estatística descritiva. Resultados: Quanto às genitoras, 67,5% tiveram menos que seis consultas de pré-natal e 42,5% intercorrências na gestação. Predominou o parto cesáreo em 75%, indicados por sofrimento fetal. Dos neonatos, 90% apresentaram idade gestacional de 37 semanas ou mais; 82,5% tiveram Apgar abaixo de 7, necessitando de reanimação ao nascer e suporte ventilatório. Conclusão: O acompanhamento adequado da gestante em todo ciclo grávido e no trabalho de parto bem como o atendimento preciso do neonato na sala de parto podem reduzir a incidência da síndrome.

  19. Tricky typhus ticks two: A report of two sisters from North India presenting with acute respiratory distress syndrome due to scrub typhus

    Directory of Open Access Journals (Sweden)

    R Pai

    2016-01-01

    Full Text Available Scrub typhus is emerging as an important cause of acute febrile illness in Northern India. This is a report of two sisters presenting concurrently with acute respiratory distress syndrome. A diagnosis of scrub typhus was made in both the patients, and they were successfully treated with doxycycline.

  20. Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism

    OpenAIRE

    Dragović Tamara; Đuran Zorana; Jelić Svetlana; Marinković Dejan; Kiković Saša; Kuzmić-Janković Snežana; Hajduković Zoran

    2016-01-01

    Introduction. Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH) secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceler...

  1. Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro).

    Science.gov (United States)

    Yuca, Sevil Ari; Rendtorff, Nanna Dahl; Boulahbel, Houda; Lodahl, Marianne; Tranebjærg, Lisbeth; Cesur, Yasar; Dogan, Murat; Yilmaz, Cahide; Akgun, Cihangir; Acikgoz, Mehmet

    2012-01-01

    Wolfram syndrome, also named "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an inherited association of juvenile-onset diabetes mellitus and optic atrophy as key diagnostic criteria. Renal tract abnormalities and neurodegenerative disorder may occur in the third and fourth decade. The wolframin gene, WFS1, associated with this syndrome, is located on chromosome 4p16.1. Many mutations have been described since the identification of WFS1 as the cause of Wolfram syndrome. We identified a new homozygous WFS1 mutation (c.1532T>C; p.Leu511Pro) causing Wolfram syndrome in a large inbred Turkish family. The patients showed early onset of IDDM, diabetes insipidus, optic atrophy, sensorineural hearing impairment and very rapid progression to renal failure before age 12 in three females. Ectopic expression of the wolframin mutant in HEK cells results in greatly reduced levels of protein expression compared to wild-type wolframin, strongly supporting that this mutation is disease-causing. The mutation showed perfect segregation with disease in the family, characterized by early and severe clinical manifestations. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  2. Autoaspiration versus manual aspiration in transbronchial needle aspiration in diagnosis of intrathoracic lymphadenopathy.

    Science.gov (United States)

    Boonsarngsuk, Viboon; Pongtippan, Atcharaporn; Juthakarn, Sabaitip; Boonsarngsuk, Wison; Kurimoto, Noriaki

    2009-10-01

    Traditionally, aspiration with high negative pressure is recommended to obtain a specimen in transbronchial needle aspiration (TBNA). Undeniably, however, the assistant experiences difficulty in the generation of the negative pressure and precise control of the syringe while performing the procedure. To evaluate the effectiveness of the autoaspiration method created by our plunger lock in comparison with the conventional manual aspiration in the diagnosis of intrathoracic lymphadenopathy by TBNA. A prospective study was conducted on all patients referred for diagnostic TBNA of enlarged intrathoracic lymph nodes. Both automatic and manual aspiration techniques were performed after the needle had been completely inserted into the nodes. The diagnostic yield and the numbers of diagnostic cells or benign lymphoid cells obtained by each technique were compared in the same node. A total of 31 intrathoracic lymph nodes in 24 patients were prospectively studied. Twenty-four nodes (77.4%) were malignancies whereas 7 nodes (22.6%) were benign disease. Adequate lymph node samples were obtained in 30 targets (96.8%), and TBNA revealed definite diagnosis for 25 nodes (80.6%). Both aspiration techniques showed exactly the same diagnostic yield. However, the autoaspiration technique provided significantly more adequate samples than manual aspiration techniques did (P=0.003). The autoaspiration method using our plunger lock was superior to the manual method in obtaining the numbers of adequate samples in TBNA procedures.

  3. Sequential voluntary cough and aspiration or aspiration risk in Parkinson's disease.

    Science.gov (United States)

    Hegland, Karen Wheeler; Okun, Michael S; Troche, Michelle S

    2014-08-01

    Disordered swallowing, or dysphagia, is almost always present to some degree in people with Parkinson's disease (PD), either causing aspiration or greatly increasing the risk for aspiration during swallowing. This likely contributes to aspiration pneumonia, a leading cause of death in this patient population. Effective airway protection is dependent upon multiple behaviors, including cough and swallowing. Single voluntary cough function is disordered in people with PD and dysphagia. However, the appropriate response to aspirate material is more than one cough, or sequential cough. The goal of this study was to examine voluntary sequential coughing in people with PD, with and without dysphagia. Forty adults diagnosed with idiopathic PD produced two trials of sequential voluntary cough. The cough airflows were obtained using pneumotachograph and facemask and subsequently digitized and recorded. All participants received a modified barium swallow study as part of their clinical care, and the worst penetration-aspiration score observed was used to determine whether the patient had dysphagia. There were significant differences in the compression phase duration, peak expiratory flow rates, and amount of air expired of the sequential cough produced by participants with and without dysphagia. The presence of dysphagia in people with PD is associated with disordered cough function. Sequential cough, which is important in removing aspirate material from large- and smaller-diameter airways, is also impaired in people with PD and dysphagia compared with those without dysphagia. There may be common neuroanatomical substrates for cough and swallowing impairment in PD leading to the co-occurrence of these dysfunctions.

  4. Employment, Academic and Extracurricular Contributors to College Aspirations

    Science.gov (United States)

    McGaha, Valerie; Fitzpatrick, Jacki

    2010-01-01

    Although there have been many studies on college entrance and aspirations, little attention has been paid to post-high school adults (who enter the workworld rather than college). it is possible that post-high school adults still have college aspirations, and it would be valuable to identify the factors that foster such aspirations. This study…

  5. Gender and Leadership Aspiration : The Impact of the Organizational Environment

    NARCIS (Netherlands)

    C. Fritz (Claudia)

    2016-01-01

    markdownabstractSummary The aim of this dissertation is to examine gender differences in leadership aspiration. Although some important work regarding gender-specific aspiration has been done already, conditions fostering leadership aspiration – particularly among women – are not completely

  6. Thin-needle aspiration biopsy of the prostate.

    Science.gov (United States)

    Koss, L G; Woyke, S; Schreiber, K; Kohlberg, W; Freed, S Z

    1984-05-01

    The authors summarize the current status of thin-needle aspiration biopsy of the prostate and evaluate the accomplishments and limitations of this method of diagnosis. Historical developments, indications, technique, contraindications, complications, cytology of aspirates, diagnostic efficacy of aspirates, and grading of prostatic carcinomas are discussed.

  7. Secondary Voice Restoration After Laryngotracheal Separation (LTS) for Dysphagia with Intractable Aspiration.

    Science.gov (United States)

    Bonte, Katrien; Huvenne, Wouter; De Loof, Marie; Deron, Philippe; Viaene, Annick; Duprez, Fréderic; Vermeersch, Hubert

    2015-12-01

    Intractable aspiration is a serious, often life-threatening condition due to its potential impact on pulmonary function. Aspiration requires therapeutic measures, starting with conservative management but often necessitating surgical treatment. The basic surgical principle is to separate the alimentary and respiratory tracts through a variety of procedures which, unfortunately, nearly all result in the loss of phonation, with the exception of total laryngectomy (TL) which includes the placement of an indwelling voice prosthesis. In this study, we present a modified laryngotracheal separation (LTS) technique that, we believe, offers multiple advantages compared to standard TL. After reviewing the medical records of 35 patients with intractable aspiration who have undergone LTS, we describe the surgical technique and present the postoperative result. In a second surgical procedure about two months following LTS, we aimed to achieve voice restoration by placement of an indwelling voice prosthesis. Intractable aspiration was successfully treated in all patients. Placement of an indwelling voice prosthesis during a second operation was successful in 15 patients, representing the largest reported cohort thus far. LTS is a reliable surgical technique to treat intractable aspiration, with restoration of oral intake, thereby improving the general condition and quality of life of these unfortunate patients. Furthermore, voice restoration can be achieved in selected patients, by placement of a voice prosthesis.

  8. Fiberoptic bronchoscopic treatment of blood aspiration and use of sugammadex in a patient with epistaxis

    Science.gov (United States)

    Ryu, Taeha; Kim, Dong Hyuck; Byun, Sung Hye

    2018-01-01

    Abstract Rationale: In patients with oropharyngeal and nasopharyngeal bleeding, blood aspiration can make airway management difficult and lead to severe pulmonary complications. Patient concerns: A 44-year-old male patient with recurrent epistaxis underwent surgery for hemostasis. The patient aspirated blood through the endotracheal tube when he hiccupped during the surgery. Diagnosis: The patient was diagnosed with blood aspiration after intraoperative fiberoptic bronchoscopy revealed a blood clot and viscous mucus in the airways, but no sign of active bleeding. Interventions: Tracheobronchial suctioning and irrigation with normal saline was performed through the bronchoscope to remove the aspirated blood clot. Prior to emergence from anesthesia, sugammadex was administered to induce complete neuromuscular recovery and enable the patient to cough up any blood remaining in the airways. Outcomes: The patient was successfully extubated and fully recovered with no complications. Lessons: Blood aspiration due to oropharyngeal or nasopharyngeal bleeding can be diagnosed and treated by tracheobronchial suctioning via fiberoptic bronchoscopy. In addition, sugammadex can enable patients to recover spontaneous breathing, facilitate extubation, and enable patients to cough up any blood remaining in the airways. PMID:29642212

  9. Improved microscopical detection of acid-fast bacilli by the modified bleach method in lymphnode aspirates

    Directory of Open Access Journals (Sweden)

    Annam Vamseedhar

    2009-07-01

    Full Text Available Objectives: To improve the smear microscopy for detection of acid-fast bacilli (AFB in fine needle aspiration cytology (FNAC of lymph node using the bleach method and also to compare this with cytological diagnosis and the conventional Ziehl-Neelsen (ZN method. Study Design: In 99 consecutive patients with clinical suspicion of tuberculosis (TB presenting with lymphadenopathy, FNACs were performed. Smears from the aspirates were processed for routine cytology and the conventional ZN method. The remaining material in the needle hub and/or the syringe was used for the bleach method. The significance of the bleach method over the conventional ZN method and cytology was analyzed using the χ2 test. Results: Of 99 aspirates, 93 were studied and the remaining six were excluded from the study due to diagnosis of malignancy in 4.04% (4/6 and inadequate aspiration in 2.02% (2/6. Among the 93 aspirates, 33.33% (31/93 were positive for AFB on conventional ZN method, 41.94% (39/93 were indicative of TB on cytology and the smear positivity increased to 63.44% (59/93 on bleach method. Conclusion: The bleach method is simple, inexpensive and potent disinfectant, also limiting the risk of laboratory-acquired infections. The implementation of the bleach method clearly improves microscopic detection and can be a useful contribution to routine cytology.

  10. Measurement of gastric emptying time: a comparative study between nonisotopic aspiration method and new radioisotopic technique

    International Nuclear Information System (INIS)

    Chaudhuri, T.K.; Greenwald, A.J.; Heading, R.C.; Chaudhuri, T.K.

    1975-01-01

    A comparative study between modified conventional saline load test and the more recently introduced radioisotopic method was run in 8 normal volunteers. Each subject underwent at least three studies by each of the two methods: (1) aspiration method Goldstein and Boyle incorporating our modification, and (2) an isotopic method employing a gamma camera with a computer. A liquid metal of isotonic saline was used with or without /sup 99m/Tc-DTPA. The results indicated that the gastric emptying T 1 / 2 (8.8 +- 3.5 min) obtained by saline load test was shorter than that obtained by isotopic method (12 +- 3 min). This discrepancy was most likely due to inherent error (incomplete aspiration of the gastric fluid) in the former method giving rise to a false faster emptying time. Moreover, the variations in T 1 / 2 value in the same individual was much more in the aspiration method than it was in the isotopic method

  11. Efficacy And Non Invasive Treatment Of Sialorrhea In The Goldenhar Syndrome.

    Science.gov (United States)

    Marvulli, R; Gallo, G A; Mastromauro, L; Fiore, P; Ianieri, G; Megna, M

    2018-03-28

    Goldenhar syndrome (ocular-auricular-vertebral syndrome), a rare congenital condition arising from defects in the first and second brachial arches, consists in clinical variety of features ranging from facial abnormalities, ear-eye abnormalities, vertebral defects and congenital heart problems and severe obstructive sleep apnea. Due to craniofacial abnormalities, patients presents mechanical obstructive phenomena and sialorrhea that cause prone position, language's fastening, use of nasopharyngeal cannulas and tracheal intubation. In this article, we report a case of a 16 years old child affected by Goldenhar syndrome and sialorrhea to demonstrate improvement of the daily patient management, through inoculations of botulinum toxin type A. Due to severe sialorrhea which caused tracheobronchial daily aspirations, caregivers used an external aspirators. In the first infiltration (August 2016) the parotid and submandibular glands bilaterally were inoculated with incobotulinum toxin type A (Xeomin®, Merz Pharma) with dosages of 5 UI for each of them, for a total of 20 UI without clinical efficacy (no quantitative and qualitative saliva reducing during 3 months). In the second (November 2016) and third (February 2017) infiltrations each parotid and each submandibular glands were injected with a (dosage of 7 UI and 5 UI respectively (total of 24 UI of incobotulinumtoxin A) with important clinical results (saliva production and tracheo-bronchial aspirations reduced). So, botulinum toxin type A could be a good and non invasive treatment of sialorrhea in Goldenhar syndrome to improve oral hygiene and daily patient management. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  12. Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1.

    Science.gov (United States)

    Kuroda, Yukiko; Ohashi, Ikuko; Naruto, Takuya; Ida, Kazumi; Enomoto, Yumi; Saito, Toshiyuki; Nagai, Jun-Ichi; Kurosawa, Kenji

    2018-03-09

    Ehlers-Danlos syndrome classical type is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and joint hypermobility. The condition typically results from mutations in COL5A1 or COL5A2 leading to the functional haploinsufficiency. Here, we report of a 24-year-old male with mild intellectual disability, dysmorphic features, and a phenotype consistent with Ehlers-Danlos syndrome classical type. A copy number variant-calling algorithm from panel sequencing data identified the deletions exons 2-11 and duplications of exons 12-67 within COL5A1. Array comparative genomic hybridization confirmed a 94 kb deletion at 9q34.3 involving exons 2-11 of COL5A1, and a 3.4 Mb duplication at 9q34.3 involving exons 12-67 of COL5A1. © 2018 Japanese Teratology Society.

  13. Altered Pathogenesis of Porcine Respiratory Coronavirus in Pigs due to Immunosuppressive Effects of Dexamethasone: Implications for Corticosteroid Use in Treatment of Severe Acute Respiratory Syndrome Coronavirus▿

    OpenAIRE

    Jung, Kwonil; Alekseev, Konstantin P.; Zhang, Xinsheng; Cheon, Doo-Sung; Vlasova, Anastasia N.; Saif, Linda J.

    2007-01-01

    The pathogenesis and optimal treatments for severe acute respiratory syndrome (SARS) are unclear, although corticosteroids were used to reduce lung and systemic inflammation. Because the pulmonary pathology of porcine respiratory coronavirus (PRCV) in pigs resembles SARS, we used PRCV as a model to clarify the effects of the corticosteroid dexamethasone (DEX) on coronavirus (CoV)-induced pneumonia. Conventional weaned pigs (n = 130) in one of four groups (PRCV/phosphate-buffered saline [PBS] ...

  14. Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

    Science.gov (United States)

    Balasubramaniam, Shanti; Lewis, B; Mock, D M; Said, H M; Tarailo-Graovac, M; Mattman, A; van Karnebeek, C D; Thorburn, D R; Rodenburg, R J; Christodoulou, J

    2017-01-01

    Leigh syndrome (LS), or subacute necrotizing encephalomyelopathy, is a genetically heterogeneous, relentlessly progressive, devastating neurodegenerative disorder that usually presents in infancy or early childhood. A diagnosis of Leigh-like syndrome may be considered in individuals who do not fulfil the stringent diagnostic criteria but have features resembling Leigh syndrome.We describe a unique presentation of Leigh-like syndrome in a 3-year-old boy with elevated 3-hydroxyisovalerylcarnitine (C5-OH) on newborn screening (NBS). Subsequent persistent plasma elevations of C5-OH and propionylcarnitine (C3) as well as fluctuating urinary markers were suggestive of multiple carboxylase deficiency (MCD). Normal enzymology and mutational analysis of genes encoding holocarboxylase synthetase (HLCS) and biotinidase (BTD) excluded MCD. Biotin uptake studies were normal excluding biotin transporter deficiency. His clinical features at 13 months of age comprised psychomotor delay, central hypotonia, myopathy, failure to thrive, hypocitrullinemia, recurrent episodes of decompensation with metabolic keto-lactic acidosis and an episode of hyperammonemia. Biotin treatment from 13 months of age was associated with increased patient activity, alertness, and attainment of new developmental milestones, despite lack of biochemical improvements. Whole exome sequencing (WES) analysis failed to identify any other variants which could likely contribute to the observed phenotype, apart from the homoplasmic (100%) m.8993T>G variant initially detected by mitochondrial DNA (mtDNA) sequencing.Hypocitrullinemia has been reported in patients with the m.8993T>G variant and other mitochondrial disorders. However, persistent plasma elevations of C3 and C5-OH have previously only been reported in one other patient with this homoplasmic mutation. We suggest considering the m.8993T>G variant early in the diagnostic evaluation of MCD-like biochemical disturbances, particularly when associated with

  15. Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6

    Czech Academy of Sciences Publication Activity Database

    Hartmannová, H.; Piherová, L.; Tauchmannová, Kateřina; Kidd, K.; Acott, P. D.; Crocker, J. F. S.; Oussedik, Y.; Mallet, M.; Hodaňová, K.; Stránecký, V.; Přistoupilová, A.; Barešová, V.; Jedličková, I.; Živná, M.; Sovová, J.; Hůlková, H.; Robins, V.; Vrbacký, Marek; Pecina, Petr; Kaplanová, Vilma; Houštěk, Josef; Mráček, Tomáš; Thibeault, Y.; Bleyer, A. J.; Kmoch, S.

    2016-01-01

    Roč. 25, č. 18 (2016), s. 4062-4079 ISSN 0964-6906 R&D Projects: GA ČR(CZ) GB14-36804G; GA MŠk(CZ) LL1204 Institutional support: RVO:67985823 Keywords : Acadian variant of Fanconi syndrome * mitochondrial complex I deficiency * NDUFAF6 * C8ORF38 * non-coding mutation * alternative splicing variant * protein isoforms Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 5.340, year: 2016

  16. Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?

    Science.gov (United States)

    Segel, Reeval; Levy-Lahad, Ephrat; Pasutto, Francesca; Picard, Elie; Rauch, Anita; Alterescu, Gheona; Schimmel, Michael S

    2009-11-01

    Microphthalmic syndrome 9 (OMIM601186) is a genetically and phenotypically variable condition, comprising anophthalmia, pulmonary hypoplasia, diaphragmatic hernia, and cardiac malformations (PDAC syndrome). Reported cases have all been associated with fetal/neonatal death or developmental delay. Recessive stimulated by retinoic acid gene 6 homolog (STRA6) mutations have recently been identified as the cause of cases of PDAC in which distinct, "bushy" eyebrows have been observed. We describe a patient with clinical anophthalmia, bushy eyebrows, patent ductus arteriosus, and normal development at age 30 months, who is a compound heterozygote for two novel STRA6 missense mutations. This patient's phenotype is consistent with the multisystemic malformations of PDAC syndrome, but is somewhat milder. This is the first living patient with compound heterozygous STRA6 mutations, which may explain her milder phenotype. We conclude that STRA6 analysis should be considered in all patients with clinical anophthalmia. Genetic counseling should be cautious with respect to long-term developmental outcomes. Copyright 2009 Wiley-Liss, Inc.

  17. Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence.

    Science.gov (United States)

    Leshinsky-Silver, Esther; Shuvalov, Ruslan; Inbar, Shani; Cohen, Sarit; Lev, Dorit; Lerman-Sagie, Tally

    2011-04-01

    An increasing number of reports describe mutations in mitochondrial DNA coding regions, especially in mitochondrial DNA- encoded nicotinamide adenine dinucleotide dehydrogenase subunit genes of the respiratory chain complex I, as causing early-onset Leigh syndrome. The authors report the molecular findings in a 24-year-old patient with juvenile-onset Leigh syndrome presenting with optic atrophy, ataxia dystonia, and epilepsy. A brain magnetic resonance imaging revealed bilateral basal ganglia and thalamic hypointensities, and a magnetic resonance spectroscopy revealed an increased lactate peak. The authors identified a T14487C change causing M63V substitution in the mitochondrial ND6 gene. The mutation was heteroplasmic in muscle and blood samples, with different mutation loads, and was absent in the patient's mother's urine and blood samples. They suggest that the T14487C mtDNA mutation should be analyzed in Leigh syndrome, presenting with optic atrophy, ataxia, dystonia, and epilepsy, regardless of age.

  18. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causing...

  19. Aspiration, atelektasis, emphysema with special regard to children and adolescents

    International Nuclear Information System (INIS)

    Reither, M.; Giessen Univ.

    1982-01-01

    The most important factors of acute respiratory diseases in childhood are reported. Above all the characteristic features of airway obstructions in chest films are presented: In newborn suffering from aspiration we find diffuse patchy and illdefined densities combined with atelectasis. In patients with aspiration of foreign bodies a unilaterally localized complete or partial emphysema of the lung in in- and particulary in exspiration followed by mediastinal shifting is pathognomonic. Chest films in in- and exspiration are therefore mandatory. Atelectases are not uncommon in ventilated and operated patients. Emphysemata arise also in such patients; a particular emphysema is the so-called congenital lobar emphysema due to an upper lobe obstruction in most patients. Finally children suffering from spastic bronchitis and asthma present pulmonary emphysema. Generally chest films in different projections and not only in inspiration but also in exspiration allow to establish the correct diagnosis of the most important airway obstructions in children and to give rapid and sure informations for treatment. (orig.) [de

  20. Air Bag Momentum Force Including Aspiration

    Directory of Open Access Journals (Sweden)

    Guy Nusholtz

    1995-01-01

    Full Text Available A gas-jet momentum force drives the air bag into position during a crash. The magnitude of this force can change as a result of aspiration. To determine the potential magnitude of the effect on the momentum force and mass flow rate in an aspirated system, a series of experiments and simulations of those experiments was conducted. The simulation consists of a two-dimensional unsteady isentropic CFD model with special “infinite boundaries”. One of the difficulties in simulating the gas-jet behavior is determining the mass flow rate. To improve the reliability of the mass flow rate input to the simulation, a sampling procedure involving multiple tests was used, and an average of the tests was adopted.

  1. Liver CT-guided aspirative biopsies

    International Nuclear Information System (INIS)

    Santos, Gilda da Cunha; Carvalho, Leda Viegas de; Chojniak, Rubens; Morini, Sandra Regina

    1996-01-01

    Sixty-eight CT-guided aspirative biopsies of hepatic nodules were performed at A.C. Camargo Hospital, Sao Paulo, Brazil, from 1992 to 1995. The cases were distributed as follow: 44(64.7%) with a positive diagnosis for neoplastic cells, 6(8.8%) with a negative diagnosis, and 14 (20.5%) with insufficient material. Of the positive cases (primary neoplasias and metastases), the cytological diagnosis was achieved in 39 cases. There were 36 cases of carcinoma (7 hepato carcinomas, 18 adenocarcinomas, 1 small cell carcinoma and 10 cases of unspecified differentiation), 2 cases of melanoma and 1 case of melanoma and 1 case of sarcoma. The correlation with histopathological exams showed no false positive cases and concordance between cytological and histopathological diagnosis. The results demonstrate that CT-guided aspirative biopsy of hepatic nodules permits a rapid diagnosis of neoplastic lesions, especially for the evaluation of metastases. (author)

  2. Refeeding syndrome: a forgotten and potentially lethal entity.

    Science.gov (United States)

    Aissaoui, Y; Hammi, S; Tagajdid, R; Chkoura, K; Boughalem, M

    2016-05-01

    Refeeding syndrome (RS) is defined as the fluid, electrolyte, metabolic, and clinical disturbances that occur after nutrition of patients who have been undernourished or fasting for a prolonged period. This syndrome has been recognized for several decades but is most often overlooked and underdiagnosed by health professionals. The authors report a RS in a patient subjected to prolonged fasting after being kidnapped by a criminal gang. Refeeding resulted in severe hypophosphatemia, neurological impairments, and hematologic disorders. The patient died due to septic shock with multiple organ failure secondary to aspiration pneumonia. In this case, the failure to recognize RS was decisive in the fatal outcome. Professionals must be aware of this disease to prevent and treat it properly.

  3. Nocturnal weakly acidic reflux promotes aspiration of bile acids in lung transplant recipients.

    Science.gov (United States)

    Blondeau, Kathleen; Mertens, Veerle; Vanaudenaerde, Bart A; Verleden, Geert M; Van Raemdonck, Dirk E; Sifrim, Daniel; Dupont, Lieven J

    2009-02-01

    Gastroesophageal reflux (GER) and aspiration of bile acids have been implicated as non-alloimmune risk factors for the development of bronchiolitis obliterans syndrome (BOS) after lung transplantation. The aim of our study was to investigate the association between GER and gastric aspiration of bile acids and to establish which reflux characteristics may promote aspiration of bile acids into the lungs and may feature as a potential diagnostic tool in identifying lung transplantation (LTx) patients at risk for aspiration. Twenty-four stable LTx recipients were studied 1 year after transplantation. All patients underwent 24-hour ambulatory impedance-pH recording for the detection of acid (pH acidic (pH 4 to 7) reflux. On the same day, bronchoalveolar lavage fluid (BALF) was collected and then analyzed for the presence of bile acids (Bioquant enzymatic assay). Increased GER was detected in 13 patients, of whom 9 had increased acid reflux and 4 had exclusively increased weakly acidic reflux. Sixteen patients had detectable bile acids in the BALF (0.6 [0.4 to 1.5] micromol/liter). The 24-hour esophageal volume exposure was significantly increased in patients with bile acids compared to patients without bile acids in the BALF. Acid exposure and the number of reflux events (total, acid and weakly acidic) were unrelated to the presence of bile acids in the BALF. However, both nocturnal volume exposure and the number of nocturnal weakly acidic reflux events were significantly higher in patients with bile acids in the BALF. Weakly acidic reflux events, especially during the night, are associated with the aspiration of bile acids in LTx recipients and may therefore feature as a potential risk factor for the development of BOS.

  4. Spatially correlated heterogeneous aspirations to enhance network reciprocity

    Science.gov (United States)

    Tanimoto, Jun; Nakata, Makoto; Hagishima, Aya; Ikegaya, Naoki

    2012-02-01

    Perc & Wang demonstrated that aspiring to be the fittest under conditions of pairwise strategy updating enhances network reciprocity in structured populations playing 2×2 Prisoner's Dilemma games (Z. Wang, M. Perc, Aspiring to the fittest and promoted of cooperation in the Prisoner's Dilemma game, Physical Review E 82 (2010) 021115; M. Perc, Z. Wang, Heterogeneous aspiration promotes cooperation in the Prisoner's Dilemma game, PLOS one 5 (12) (2010) e15117). Through numerical simulations, this paper shows that network reciprocity is even greater if heterogeneous aspirations are imposed. We also suggest why heterogeneous aspiration fosters network reciprocity. It distributes strategy updating speed among agents in a manner that fortifies the initially allocated cooperators' clusters against invasion. This finding prompted us to further enhance the usual heterogeneous aspiration cases for heterogeneous network topologies. We find that a negative correlation between degree and aspiration level does extend cooperation among heterogeneously structured agents.

  5. Intake acoustics of naturally aspirated racing engines

    OpenAIRE

    Dolinar, A

    2006-01-01

    The intake system is one of the components on the internal combustion engine most linked with the achievement of the high volumetric efficiency required of naturally aspirated engines. High performance racing engine intake systems have unusual geometry with separate intake pipes (often known as intake trumpets) housed in a common airbox. These intake trumpets are short pipes that are sometimes cylindrical but often conical. The flow within the intake system is ve...

  6. Volvulus and bowel obstruction in ATR-X syndrome-clinical report and review of literature.

    Science.gov (United States)

    Horesh, Nir; Pery, Ron; Amiel, Imri; Shwaartz, Chaya; Speter, Chen; Guranda, Larisa; Gutman, Mordechai; Hoffman, Aviad

    2015-11-01

    Alpha thalassemia-mental retardation, X-linked (ATR-X) syndrome is a rare genetic disorder with a variety of clinical manifestations. Gastrointestinal symptoms described in this syndrome include difficulties in feeding, regurgitation and vomiting which may lead to aspiration pneumonia, abdominal pain, distention, and constipation. We present a 19-year-old male diagnosed with ATR-X syndrome, who suffered from recurrent colonic volvulus that ultimately led to bowel necrosis with severe septic shock requiring emergent surgical intervention. During 1 year, the patient was readmitted four times due to poor oral intake, dehydration and abdominal distention. Investigation revealed partial small bowel volvulus which resolved with non-operative treatment. Small and large bowel volvulus are uncommon and life-threatening gastrointestinal manifestations of ATR-X patients, which may contribute to the common phenomenon of prolonged food refusal in these patients. © 2015 Wiley Periodicals, Inc.

  7. Adult respiratory distress syndrome

    International Nuclear Information System (INIS)

    Murphy, C.H.; Colvin, R.S.

    1987-01-01

    Due to improved emergency resuscitation procedures, and with advancing medical technology in the field of critical care, an increasing number of patients survive the acute phase of shock and catastrophic trauma. Patients who previously died of massive sepsis, hypovolemic or hypotensive shock, multiple fractures, aspiration, toxic inhalation, and massive embolism are now surviving long enough to develop previously unsuspected and unrecognized secondary effects. With increasing frequency, clinicians are recognizing the clinical and radiographic manifestations of pathologic changes in the lungs occurring secondary to various types of massive insult. This paper gives a list of diseases that have been shown to precipitate or predispose to diffuse lung damage. Various terms have been used to describe the lung damage and respiratory failure secondary to these conditions. The term adult respiratory distress syndrome (ARDS) is applied to several cases of sudden respiratory failure in patients with previously healthy lungs following various types of trauma or shock. Numerous investigations and experiments have studied the pathologic changes in ARDS, and, while there is still no clear indication of why it develops, there is now some correlation of the sequential pathologic developments with the clinical and radiographic changes

  8. Turner Syndrome

    Science.gov (United States)

    ... Failure to begin sexual changes expected during puberty Sexual development that "stalls" during teenage years Early end to menstrual cycles not due to pregnancy For most women with Turner syndrome, inability to ...

  9. Is the drug-induced hypersensitivity syndrome (DIHS due to human herpesvirus 6 infection or to allergy-mediated viral reactivation? Report of a case and literature review

    Directory of Open Access Journals (Sweden)

    Borgia Guglielmo

    2010-03-01

    Full Text Available Abstract Background Drug-Induced Hypersensitivity Syndrome (DIHS is a severe and rare systemic reaction triggered by a drug (usually an antiepileptic drug. We present a case of DISH and we review studies on the clinical features and treatment of DIHS, and on its pathogenesis in which two elements (Herpesvirus infection and the drug interact with the immune system to trigger such a syndrome that can lead to death in about 20% of cases. Case presentation We report the case of a 26-year old woman with fever, systemic maculopapular rash, lymphadenopathy, hepatitis and eosinophilic leukocytosis. She had been treated with antibiotics that gave no benefit. She was taking escitalopram and lamotrigine for a bipolar disease 30 days before fever onset. Because the patient's general condition deteriorated, betamethasone and acyclovir were started. This treatment resulted in a mild improvement of symptoms. Steroids were rapidly tapered and this was followed with a relapse of fever and a worsening of laboratory parameters. Human herpesvirus 6 (HHV-6 DNA was positive as shown by PCR. Drug-Induced Hypersensitivity Syndrome (DIHS was diagnosed. Symptoms regressed on prednisone (at a dose of 50 mg/die that was tapered very slowly. The patient recovered completely. Conclusions The search for rare causes of fever led to complete resolution of a very difficult case. As DIHS is a rare disease the most relevant issue is to suspect and include it in differential diagnosis of fevers of unknown origin. Once diagnosed, the therapy is easy (steroidal administration and often successful. However our case strongly confirms that attention should be paid on the steroidal tapering that should be very slow to avoid a relapse.

  10. Spontaneous Retroperitoneal Hemorrhage (Wunderlich Syndrome due to Large Upper Pole Renal Angiomyolipoma: Does Robotic-Assisted Laparoscopic Partial Nephrectomy Have a Role in Primary Treatment?

    Directory of Open Access Journals (Sweden)

    Achilles Ploumidis

    2013-01-01

    Full Text Available Spontaneous rapture with consequent retroperitoneal hemorrhage (Wunderlich’s syndrome is the complication mostly feared from large renal angiomyolipomas (RAMLs. In hemodynamic stable patients, minimal invasive therapies have superseded open surgery as the mainstay of treatment, with contemporary cases mostly treated by selective arterial embolization. Robotic-assisted laparoscopic partial nephrectomy (RALPN is an established minimal access treatment that has been used in the past for benign and malignant lesions of the kidney in the elective setting, but rarely in urgent situations as primary treatment. We present a case of a ruptured RAML in a young female treated effectively by RALPN.

  11. An unusual case of foreign body aspiration mimicking cavitary tuberculosis in adolescent patient: Thread aspiration

    Directory of Open Access Journals (Sweden)

    Cakir Erkan

    2012-05-01

    Full Text Available Abstract Foreign body aspiration continues to be a serious problem in childhood and adolescent period with significant rate of morbidity and rarely mortality. Half of the foreign body aspiration cases have no history of aspiration. The main foreign bodies inhaled are food fragments and different kinds of metallic objects. A 12-year-old girl was referred to the pediatric pulmonology department for chronic cough and hemoptysis. She had persistent infiltration and cavitary lesion mimicking cavitary tuberculosis. There was no contact history with tuberculosis in her family and acid resistant bacillus was not found in the sputum examination. Flexible bronchoscopy was performed for persistent infiltration and hemoptysis and inflamed thread was found in right lower lobe bronchus. This is the first case of thread inhalation mimicking cavitary tuberculosis in an adolescent patient.

  12. Foreign body aspiration in children: clinical aspects, radiological aspects and bronchoscopic treatment

    International Nuclear Information System (INIS)

    Fraga, Andrea de Melo Alexandre; Reis, Marcelo Conrado dos; Zambon, Mariana Porto; Toro, Ivan Contrera; Ribeiro, Jose Dirceu; Baracat, Emilio Carlos Elias

    2008-01-01

    Objective: To describe the clinical manifestations and bronchoscopic treatment of foreign body aspiration in children under 14 years of age, correlating the clinical aspects with the bronchoscopic findings. Methods: A retrospective, descriptive study analyzing data related to children under 14 years of age undergoing bronchoscopy due to clinical suspicion of foreign body aspiration at the State University at Campinas Hospital das Clinicas from January of 2000 to December of 2005. Results: The sample consisted of 69 patients, ranging in age from 8 months to 12 years/7 months (75.4% under 3 years of age), 62.3% of whom were male. The principal complaint was sudden-onset cough (75.4%), auscultation was abnormal in 74%, and dyspnea was observed in 29%. Radiological abnormalities were seen in 88% of the cases. Aspirations were primarily into the right lung (54.8%), and 30.7% of the foreign bodies were of vegetal origin (principally beans and peanuts). In the follow-up period, 29% presented complications (most commonly pneumonia), which were found to be associated with longer aspiration time (p = 0.03). Mechanical ventilation was required in 7 children (10.1%), and multiple bronchoscopies were performed in 5 (7.2%). Conclusions: A history of sudden-onset choking and cough, plus abnormal auscultation and radiological findings, characterizes the profile of foreign body aspiration. In such cases, bronchoscopy is indicated. Longer aspiration time translates to a higher risk of complications. The high prevalence of foreign bodies of vegetal origin underscores the relevance of prevention at children younger than three years of age. (author)

  13. Foreign body aspiration in children: clinical aspects, radiological aspects and bronchoscopic treatment

    Energy Technology Data Exchange (ETDEWEB)

    Fraga, Andrea de Melo Alexandre; Reis, Marcelo Conrado dos; Zambon, Mariana Porto [Universidade Estadual de Campinas (UNICAMP), Campinas, SP (Brazil). Pediatric Emergency Room]. E-mail: andreafrag@gmail.com; Toro, Ivan Contrera [Universidade Estadual de Campinas (UNICAMP), Campinas, SP (Brazil). Dept. of Thoracic Surgery; Ribeiro, Jose Dirceu; Baracat, Emilio Carlos Elias [Universidade Estadual de Campinas (UNICAMP), Campinas, SP (Brazil). Dept. of Pediatric Pulmonology

    2008-02-15

    Objective: To describe the clinical manifestations and bronchoscopic treatment of foreign body aspiration in children under 14 years of age, correlating the clinical aspects with the bronchoscopic findings. Methods: A retrospective, descriptive study analyzing data related to children under 14 years of age undergoing bronchoscopy due to clinical suspicion of foreign body aspiration at the State University at Campinas Hospital das Clinicas from January of 2000 to December of 2005. Results: The sample consisted of 69 patients, ranging in age from 8 months to 12 years/7 months (75.4% under 3 years of age), 62.3% of whom were male. The principal complaint was sudden-onset cough (75.4%), auscultation was abnormal in 74%, and dyspnea was observed in 29%. Radiological abnormalities were seen in 88% of the cases. Aspirations were primarily into the right lung (54.8%), and 30.7% of the foreign bodies were of vegetal origin (principally beans and peanuts). In the follow-up period, 29% presented complications (most commonly pneumonia), which were found to be associated with longer aspiration time (p = 0.03). Mechanical ventilation was required in 7 children (10.1%), and multiple bronchoscopies were performed in 5 (7.2%). Conclusions: A history of sudden-onset choking and cough, plus abnormal auscultation and radiological findings, characterizes the profile of foreign body aspiration. In such cases, bronchoscopy is indicated. Longer aspiration time translates to a higher risk of complications. The high prevalence of foreign bodies of vegetal origin underscores the relevance of prevention at children younger than three years of age. (author)

  14. Use Of Noninvazive Positive Pressure Ventilation in a Case of Diffuse Alveolar Hemorrhage Due to Goodpasture%u2019s Syndrome

    Directory of Open Access Journals (Sweden)

    Bunyamin Sertogullarindan

    2014-03-01

    Full Text Available Antiglomerular basement membrane antibody disease is manifested by progressive glomerulonephritis, intraalveolar hemorrhage and antiglomerular basement membrane antibodies. It is frequently characterized by mortality. We present a case of a 18 year-old  young showing remission by early diagnosis. The patient was admitted to emergency department with symptoms and findings of atypic pneumonia with bloody sputum. Chest radiography detected patchy alveolar opacities (Figure A. An ampric antibacterial treatment was given including macrolide, and bronchodilators because of bronchospasm. The patient was suspected for goodpasture’s syndrome (GPS. Anti-glomerular basement membrane (AGBM antibodies test was send. He developed massive alveolar haemorrhage in the resolution phase of atypic pneumonia. Laboratory examination revealed proteinuria of 20 mg/ dl, anemia Hb of 8 g/dl, hematocrit of 25%, microscopic hematuria of 350 erythrocite /HPF. AGBM antibodies was found as positive. GPS was diagnosed. Early immunosuppressive treatment with pulse methylprednisolone and cyclophosphamide and plazmaferez was started. Noninvasive positive pressure ventilation (NPPV was used for severe hypoxemia. Haemolytic anemia and thrombocytopenia developed under plasmaphresis treatment. Early treatment resulted with remmission. In conclusion, the current case showed that Goodpasture’s syndrome may have a favorable prognosis with early diagnosis and proper treatments including NPPV.

  15. Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3).

    Science.gov (United States)

    Dang, Vy; Surampalli, Abhilasha; Manzardo, Ann M; Youn, Stephanie; Butler, Merlin G; Gold, June-Anne; Kimonis, Virginia E

    2016-01-01

    Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic, and behavioral abnormalities. We report the first case of an unbalanced de novo reciprocal translocation of chromosomes 15 and 19, 45,XY,-15,der(19)t(15;19)(q12;p13.3), resulting in monosomy for the PWS critical chromosome region. Our patient had several typical features of PWS including infantile hypotonia, a poor suck and feeding difficulties, tantrums, skin picking, compulsions, small hands and feet, and food seeking, but not hypopigmentation, a micropenis, cryptorchidism or obesity as common findings seen in PWS at the time of examination at 6 years of age. He had seizures noted from 1 to 3 years of age and marked cognitive delay. High-resolution SNP microarray analysis identified an atypical PWS type I deletion in chromosome 15 involving the proximal breakpoint BP1. The deletion extended beyond the GABRB3 gene but was proximal to the usual distal breakpoint (BP3) within the 15q11q13 region, and GABRA5, GABRG3, and OCA2 genes were intact. No deletion of band 19p13.3 was detected; therefore, the patient was not at an increased risk of tumors from the Peutz-Jeghers syndrome associated with a deletion of the STK11 gene. © 2016 S. Karger AG, Basel.

  16. Aspirations, Expectations and Delinquency: The Moderating Effect of Impulse Control.

    Science.gov (United States)

    Mahler, Alissa; Simmons, Cortney; Frick, Paul J; Steinberg, Laurence; Cauffman, Elizabeth

    2017-07-01

    Although prior research finds a robust link between delinquent behavior and expectations, or an adolescent's perceived likelihood of obtaining one's future goals, fewer studies have evaluated aspirations, or the perceived importance of achieving one's goals. In addition, few studies consider how individual traits such as impulsivity affect the degree to which expectations and aspirations motivate or deter delinquent behavior. We contribute to this body of research by evaluating the independent effects of expectations and aspirations, and the aspiration-expectation gap (i.e., strain) on delinquent behavior during the year following an adolescent's first arrest using a large (N = 1117), racially/ethnically diverse sample of male adolescents (46.55% Latino, 35.81% Black, 14.95% White, and 2.69% Other race). In addition, we considered how impulse control interacts with expectations, aspirations, and strain to motivate behavior. Our results indicated that both aspirations, expectations and strain uniquely influence criminal behavior. Importantly, aspirations interacted with impulse control, such that aspirations affected delinquency only among youth with higher impulse control. Our findings suggest that aspirations may only influence behavior if youth also have the psychosocial capabilities to consider their future aspirations when behaving in the present.

  17. Aspiration of radiation cataract in children of retinoblastoma

    International Nuclear Information System (INIS)

    Kawashima, Hidetoshi; Minoda, Kensei.

    1985-01-01

    We operated on the radiation cataracts of 12 retinoblastoma patients who had been treated by conservative therapeutic means including radiation, cryoapplication, photocoagulation, and cytostatic agents. Before the surgery, we checked that the tumor had disappeared or scarred by means of CT-scan, Ultrasonography, X-ray, and so on. Visual acuity of 1.0 or more was retained in two eyes (17 %). Four eyes (33 %) retained visual acuity of 0.6-0.4, one eye (8 %) retained 0.1 and the remaining five eyes (42 %) had visual acuity of less than 0.1. We experienced no serious complications during or after the surgeries. The reason for poorer visual acuity was either macular involvement of the tumor or radiation retinopathy due to larger dosis of radiation. Therefore, we conclude that aspiration of radiation cataract is an effective treatment of retinoblastoma patients after the tumor has disappeared or scarred. (author)

  18. Efficacy and safety of two doses of Norditropin® (somatropin) in short stature due to Noonan syndrome: a 2-year randomized, double-blind, multicenter trial in Japanese patients.

    Science.gov (United States)

    Ozono, Keiichi; Ogata, Tsutomu; Horikawa, Reiko; Matsubara, Yoichi; Ogawa, Yoshihisa; Nishijima, Keiji; Yokoya, Susumu

    2018-02-26

    This randomized double-blind multicenter trial (NCT01927861) evaluated the growth-promoting effect and safety of Norditropin ® (NN220; somatropin) in Japanese children with short stature due to Noonan syndrome. Prepubertal children aged 3-Noonan syndrome were randomized to receive GH 0.033 mg/kg/day (n = 25, mean age 6.57 years, 11 females) or 0.066 mg/kg/day (n = 26, mean age 6.06 years, eight females) for 104 weeks. Change in height standard deviation score (HSDS) from baseline was analyzed based on an ANCOVA model. Baseline HSDS was -3.24. Estimated change in HSDS [95% CI] after 104 weeks' treatment was 0.84 [0.66, 1.02] and 1.47 [1.29, 1.64] for the lower and higher doses, respectively; estimated mean difference 0.63 [0.38, 0.88], p Noonan syndrome, with a favorable safety profile. The effect was greater with 0.066 mg/kg/day compared with 0.033 mg/kg/day.

  19. Gastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Hammond Sue

    2009-03-01

    Full Text Available Abstract Background Ataxia-Telangiectasia syndrome is characterized by progressive cerebellar dysfunction, conjuctival and cutaneous telangiectasias, severe immune deficiencies, premature aging and predisposition to cancer. Clinical and radiographic evaluation for malignancy in ataxia-telangiectasia patients is usually atypical, leading to delays in diagnosis. Case presentation We report the case of a 20 year old ataxia-telangiectasia patient with gastric adenocarcinoma that presented as complete gastric outlet obstruction. Conclusion A literature search of adenocarcinoma associated with ataxia-telangiectasia revealed 6 cases. All patients presented with non-specific gastrointestinal complaints suggestive of ulcer disease. Although there was no correlation between immunoglobulin levels and development of gastric adenocarcinoma, the presence of chronic gastritis and intestinal metaplasia seem to lead to the development of gastric adenocarcinoma. One should consider adenocarcinoma in any patient with ataxia-telangiectasia who presents with non-specific gastrointestinal complaints, since this can lead to earlier diagnosis.

  20. A global amnesia associated with the specific variant of posterior reversible encephalopathy syndrome (PRES) that developed due to severe preeclampsia and malignant hypertension.

    Science.gov (United States)

    Borovac, Josip Anđelo; Božić, Joško; Žaja, Nikola; Kolić, Krešimir; Hrboka, Vedran

    2016-04-01

    A case is reported of a 26-year-old primiparous woman in the 32nd week of gestation who presented to the emergency department with the symptoms of a severe headache, nausea and vomiting. The patient was diagnosed with preeclampsia that later progressed to eclampsia. This state was characterized by a sudden onset of a headache and diplopia that advanced to cortical blindness and precipitated significant alterations in mental status, most notable being global amnesia that resolved within 48 h. A post-partum magnetic resonance imaging of the brain in FLAIR mode revealed multiple cortico-subcortical areas of hyperintense signals suggestive of edematous lesions that chiefly involved occipital and parietal lobes with additional atypical manifestations. Such radiologic findings suggested a posterior reversible encephalopathy syndrome variant with the global amnesia as an extraordinary constituent. This unique feature should be acknowledged when treating a preeclamptic or hypertensive patient that exhibits neurological symptomatology and vision disturbances.

  1. Bacteremia por Rhodococcus equi em paciente com síndrome da imunodeficiência adquirida: relato de caso Bacteremia due to Rhodococcus equi in a patient with acquired immunodeficiency syndrome: case report

    Directory of Open Access Journals (Sweden)

    Carina Secchi

    2006-12-01

    Full Text Available Rhodococcus equi é um importante agente de infecções zoonóticas, podendo causar sérias infecções em humanos, principalmente em pacientes imunocomprometidos. Neste estudo, nós relatamos o caso de uma bacteremia fatal devido a Rhodococcus equi em paciente com síndrome da imunodeficiência adquirida (HIV positivo.Rhodococcus equi is an important agent for zoonotic infections, and may cause serious infections in humans, especially immunocompromised patients. In this study, a case of fatal bacteremia due to Rhodococcus equi in a patient with acquired immunodeficiency syndrome (HIV positive is reported.

  2. Radiological findings of meconium aspiration of the newborn

    International Nuclear Information System (INIS)

    Lee, Young Seok; Lee, Sung Sik; Lee, Hong Kyu; Kim, Kye Tae; Lee, Soon Il; Yeon, Kyung Mo

    1985-01-01

    Authors reviewed 264 cases of meconium aspiration pneumonia of the newborn at Sohwa Children's Hospital from July 1981 to June 1984. The radiological findings were retrospectively analysed with particular attention to the degree of pulmonic infiltrations. The results were as follows: 1. The male to female ratio was 1.8 : 1 and clinical condition which commonly associated were post-term infants (41.3%), placental dysfunction syndrome (33%) and perinatal asphyxia (11.4%). 2. There were improved (76.9%) and expired cases (12.1%) as clinical course. 3. Radiologic findings were noticed as pulmonic infiltration (68.2%), hyperinflation (35.2%), pneumo-mediastinum (18.6%), pleural effusion (14.4%), pneumothorax (13.3%) and suggestive interstitial emphysema (6.8%). The more the degree of pulmonary infiltration was been severe, the more the incidence of other pulmonary lesions was increased. 4. Pulmonary infiltrations were commonly occurred in both lungs but pneumothorax, pleural effusion and hyperinflation in right. 5. Radiologic findings of 32 expired cases were noticed as pulmonic infiltrations (93.8%), hyperinflation (53.1%), pneumomediastinum (37.5%), pneumothorax (18.8%), suggestive interstitial emphysema (18.8%) and pleural effusion (18.8%)

  3. Radiological findings of meconium aspiration of the newborn

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Young Seok; Lee, Sung Sik; Lee, Hong Kyu; Kim, Kye Tae; Lee, Soon Il [Sohwa Children' s Hospital, Seoul (Korea, Republic of); Yeon, Kyung Mo [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1985-02-15

    Authors reviewed 264 cases of meconium aspiration pneumonia of the newborn at Sohwa Children's Hospital from July 1981 to June 1984. The radiological findings were retrospectively analysed with particular attention to the degree of pulmonic infiltrations. The results were as follows: 1. The male to female ratio was 1.8 : 1 and clinical condition which commonly associated were post-term infants (41.3%), placental dysfunction syndrome (33%) and perinatal asphyxia (11.4%). 2. There were improved (76.9%) and expired cases (12.1%) as clinical course. 3. Radiologic findings were noticed as pulmonic infiltration (68.2%), hyperinflation (35.2%), pneumo-mediastinum (18.6%), pleural effusion (14.4%), pneumothorax (13.3%) and suggestive interstitial emphysema (6.8%). The more the degree of pulmonary infiltration was been severe, the more the incidence of other pulmonary lesions was increased. 4. Pulmonary infiltrations were commonly occurred in both lungs but pneumothorax, pleural effusion and hyperinflation in right. 5. Radiologic findings of 32 expired cases were noticed as pulmonic infiltrations (93.8%), hyperinflation (53.1%), pneumomediastinum (37.5%), pneumothorax (18.8%), suggestive interstitial emphysema (18.8%) and pleural effusion (18.8%)

  4. Glutamine Attenuates Acute Lung Injury Caused by Acid Aspiration

    Directory of Open Access Journals (Sweden)

    Chih-Cheng Lai

    2014-08-01

    Full Text Available Inadequate ventilator settings may cause overwhelming inflammatory responses associated with ventilator-induced lung injury (VILI in patients with acute respiratory distress syndrome (ARDS. Here, we examined potential benefits of glutamine (GLN on a two-hit model for VILI after acid aspiration-induced lung injury in rats. Rats were intratracheally challenged with hydrochloric acid as a first hit to induce lung inflammation, then randomly received intravenous GLN or lactated Ringer’s solution (vehicle control thirty min before different ventilator strategies. Rats were then randomized to receive mechanical ventilation as a second hit with a high tidal volume (TV of 15 mL/kg and zero positive end-expiratory pressure (PEEP or a low TV of 6 mL/kg with PEEP of 5 cm H2O. We evaluated lung oxygenation, inflammation, mechanics, and histology. After ventilator use for 4 h, high TV resulted in greater lung injury physiologic and biologic indices. Compared with vehicle treated rats, GLN administration attenuated lung injury, with improved oxygenation and static compliance, and decreased respiratory elastance, lung edema, extended lung destruction (lung injury scores and lung histology, neutrophil recruitment in the lung, and cytokine production. Thus, GLN administration improved the physiologic and biologic profiles of this experimental model of VILI based on the two-hit theory.

  5. Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs.

    Directory of Open Access Journals (Sweden)

    Thierry Olivry

    Full Text Available In humans, congenital and hereditary skin diseases associated with epidermal cell-cell separation (acantholysis are very rare, and spontaneous animal models of these diseases are exceptional. Our objectives are to report a novel congenital acantholytic dermatosis that developed in Chesapeake Bay retriever dogs. Nine affected puppies in four different litters were born to eight closely related clinically normal dogs. The disease transmission was consistent with an autosomal recessive mode of inheritance. Clinical signs occurred immediately after birth with superficial epidermal layers sloughing upon pressure. At three month of age, dogs exhibited recurrent superficial skin sloughing and erosions at areas of friction and mucocutaneous junctions; their coat was also finer than normal and there were patches of partial hair loss. At birth, histopathology revealed severe suprabasal acantholysis, which became less severe with ageing. Electron microscopy demonstrated a reduced number of partially formed desmosomes with detached and aggregated keratin intermediate filaments. Immunostaining for desmosomal adhesion molecules revealed a complete lack of staining for plakophilin-1 and anomalies in the distribution of desmoplakin and keratins 10 and 14. Sequencing revealed a homozygous splice donor site mutation within the first intron of PKP1 resulting in a premature stop codon, thereby explaining the inability to detect plakophilin-1 in the skin. Altogether, the clinical and pathological findings, along with the PKP1 mutation, were consistent with the diagnosis of ectodermal dysplasia-skin fragility syndrome with plakophilin-1 deficiency. This is the first occurrence of ectodermal dysplasia-skin fragility syndrome in an animal species. Controlled mating of carrier dogs would yield puppies that could, in theory, be tested for gene therapy of this rare but severe skin disease of children.

  6. Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: Detection of a novel FBN1 frameshift mutation.

    Science.gov (United States)

    Wang, Yunyun; Chen, Shu; Wang, Rongshuai; Huang, Sizhe; Yang, Mingzhen; Liu, Liang; Liu, Qian

    2016-04-01

    To investigate the sudden death of a 36-year-old Chinese man, a medicolegal autopsy was performed, combining forensic pathological examinations and genetic sequencing analysis to diagnose the cause of death. Genomic DNA samples were extracted from blood and subjected to high-throughput sequencing. Major findings included a dilated aortic root with a ruptured and dissected aorta and consequent tamponade of the pericardial sac. Moreover, arachnodactyly and other skeletal deformities were noted. By sequencing the fibrillin-1 gene (FBN1), five genetic variations were found, including four previously known single nucleotide polymorphisms (SNPs) and a novel frameshift mutation, leading to the diagnosis of Marfan syndrome. The frameshift mutation (c.4921delG, p.glu1641llysFsX9) detected in exon 40 led to a stop codon after the next 8 amino acids. The four SNPs included a splice site mutation (c.3464-5 G>A, rs11853943), a synonymous mutation (p.Asn625Asn, rs25458), and two missense mutations (p.Pro1148Ala, rs140598; p.Cys472Tyr, rs4775765). Genetic screening was recommended for the relatives as it was reported that the father and brother of the deceased had died at the ages of 40 and 25, respectively, from sudden cardiac failure. The son of the deceased lacked the relevant mutations. This report emphasizes the important contribution of medicolegal postmortem analysis on the molecular pathogenesis study of Marfan syndrome and early diagnosis of at-risk relatives. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  7. Prader-Willi syndrome due to an unbalanced de novo translocation [t(15;19)(q12;p13.3)

    Science.gov (United States)

    Dang, Vy; Surampalli, Abhilasha; Manzardo, Ann M; Youn, Stephanie; Butler, Merlin G; Gold, June-Anne; Kimonis, Virginia

    2018-01-01

    Background and Aims Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic and behavioral abnormalities. We report the first case of an unbalanced de-novo reciprocal translocation of chromosome 15 and 19: 45,XY,-15, der (19)t(15;19)(q12;p13.3) resulting in monosomy for the PWS chromosome critical region. We performed high resolution SNP microarray to characterize the breakpoints. Case report Our patient had several typical features for PWS including infantile hypotonia, a poor suck and feeding difficulties, tantrums, skin picking, compulsions, small hands and feet and food seeking but not hypopigmentation, a micropenis, cryptorchidism or obesity as common findings seen in PWS at the time of examination at 6 years of age. He had seizures noted from 1 to 3 years of age and marked cognitive delay. Results High resolution SNP microarray analysis identified an atypical PWS Type I deletion of chromosome 15 involving proximal breakpoint BP1. The deletion extended beyond the GABRB3 gene but was proximal to the usual distal breakpoint (BP3) within the 15q11-q13 region and GABRA5, GABRG3 and OCA2 genes were intact. Conclusion We report a case with atypical features for PWS associated with an unbalanced de-novo reciprocal translocation resulting in monosomy for the 15q11.1–15q12 with intact GABRA5, GABRG3 and OCA2 genes. No deletion of 19p13.3 band was detected therefore the patient was not at an increased risk of tumors from Peutz-Jeghers syndrome associated with a deletion of the STK11 gene. PMID:27894106

  8. Evaluation of the incidence on insufficient cytology results comparing different ultrasound-guided aspiration techniques for thyroid nodules

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    Kim, Seong Hyng; Park, Jun Hyun; Park, Ji Kang [Dept. of Radiology, Jeju National University Hospital, Jeju National University School of Medicine, Jeju (Korea, Republic of)

    2013-07-15

    We compared the incidence of insufficient thyroid cytology due to blood-stained materials or low cellularity in terms of aspiration technique, especially focusing on the degree of suction pressure and needle size. Three experienced radiologists performed ultrasound-guided aspiration for thyroid nodules in 1174 thyroid nodules consecutively. Three different techniques were used; (A) using a 25 gauge needle with mainly capillary technique in 269 nodules; (B) using a 25 gauge needle with 3 cc syringe and minimal suction pressure in 303 nodules; (C) using a 22-23 gauge needle with 10 cc syringe and aspirator in 602 nodules. The differences of the incidence of the insufficient cytology among the three aspiration techniques and relationships of the incidence and needle size/degree of suction pressure was statistically analyzed using the Mann-Whitney U test and the chi-square test with linear-by-linear association. Overall, the difference in insufficient cytology was significant across the three aspiration technique (p = 0.004), and the incidence tended to increase significantly with increase of needle size and degree of suction pressure (p < 0.001). A pairwise comparison of aspiration techniques found significant differences (p = 0.003) between techniques (A) and (C), and no differences between technique (B) and (C) (p 0.07) and between techniques (A) and (B) (p = 0.10). The incidence of insufficient cytology was significantly low in the capillary technique, and it increased significantly with the increase of needle size and degree of suction pressure.

  9. Evaluation of the incidence on insufficient cytology results comparing different ultrasound-guided aspiration techniques for thyroid nodules

    International Nuclear Information System (INIS)

    Kim, Seong Hyng; Park, Jun Hyun; Park, Ji Kang

    2013-01-01

    We compared the incidence of insufficient thyroid cytology due to blood-stained materials or low cellularity in terms of aspiration technique, especially focusing on the degree of suction pressure and needle size. Three experienced radiologists performed ultrasound-guided aspiration for thyroid nodules in 1174 thyroid nodules consecutively. Three different techniques were used; (A) using a 25 gauge needle with mainly capillary technique in 269 nodules; (B) using a 25 gauge needle with 3 cc syringe and minimal suction pressure in 303 nodules; (C) using a 22-23 gauge needle with 10 cc syringe and aspirator in 602 nodules. The differences of the incidence of the insufficient cytology among the three aspiration techniques and relationships of the incidence and needle size/degree of suction pressure was statistically analyzed using the Mann-Whitney U test and the chi-square test with linear-by-linear association. Overall, the difference in insufficient cytology was significant across the three aspiration technique (p = 0.004), and the incidence tended to increase significantly with increase of needle size and degree of suction pressure (p < 0.001). A pairwise comparison of aspiration techniques found significant differences (p = 0.003) between techniques (A) and (C), and no differences between technique (B) and (C) (p 0.07) and between techniques (A) and (B) (p = 0.10). The incidence of insufficient cytology was significantly low in the capillary technique, and it increased significantly with the increase of needle size and degree of suction pressure.

  10. Stereotactic aspiration for hypertensive pontine hemorrhage

    International Nuclear Information System (INIS)

    Takahama, Hidetoshi; Morii, Ken; Sato, Mitsuya; Sekiguchi, Kentaro; Sato, Susumu

    1989-01-01

    Recently, CT-guided stereotactic aspiration has been attempted as a useful method for hypertensive intracerebral hemorrhage. Since the CT scanner was introduced in our clinic, we have experienced 55 cases with hypertensive pontine hemorrhage. We carried out stereotactic aspiration in nine cases consisting of four men and five women, ranging in age from 34 to 66 years. Operation was performed between 4 and 22 days after the hemorrhage (mean: 7.7 days). On the other hand, 46 cases were conservatively treated. They consisted of 31 men and 15 women, aged from 31 to 79 years, with a mean age of 55.5 years. The purpose of this study is to review the outcome at three months after the onset, and then to evaluate the clinical value of this method for hypertensive pontine hemorrhage. We have analyzed the outcome from the viewpoint of consciousness level, CT classification, and maximum transverse hematoma diameter on CT scan. In the present study, there was a statistically significant correlation between consciousness level and outcome in the conservative group. The outcome in the operated-on group tended to be superior to that in the conservatively treated group. Particularly, in cases of Japan Coma Scale 10 to 100, functionally favorable effects were considered to be obtained by stereotactic aspiration. According to CT classification, operation was considered to have exerted functionally favorable effects on unilateral basis tegmentum type and bilateral tegmentum type. The conservatively treated group showed a statistically significant correlation between maximum transverse hematoma diameter and outcome. A favorable prognosis was considered to be induced by operation in cases of 22 to 28 mm in maximum transverse hematoma diameter. (author)

  11. Correlation of gastroesophageal reflex with aspiration pneumonia after surgery

    International Nuclear Information System (INIS)

    Hirashima, Tokuji; Hashimoto, Hajime; Noro, Toshio; Takahashi, Tadao; Hino, Yasunori; Kuroiwa, Kouzirou

    1996-01-01

    In order to elucidate the correlation of gastroesophageal reflex (GER) with aspiration pneumonia after surgery, 48 patients (mean, 75.6 years) with gastric cancer treated at the hospital from March, 1994 to December, 1994 were subjected to this prospective study. The pharyngeal stimulation test, nutritional assessment, radionuclide esophageal scintigraphy (34 cases) were performed before surgery and relationship between those results and aspiration pneumonia were studied. Aspiration pneumonia occurred in 3 cases, and all of them were in, significantly, poor nutritional status, compared with other. A significant increase in the frequency of GER was observed when a naso-gastric tube (NGT) was placed, but surprisingly, all the patients with aspiration pneumonia were 3 out of 4 patients who had continuous GER without NGT. It is noteworthy, continuous GER without NGT was significantly (p<0.001) affected postoperative aspiration pneumonia and impaired phalyngeal reflex was frequently correlated with development of aspiration pneumonia, when malnutritional status existed. (author)

  12. CT guided puncture aspiration and sclerosing treatment of ovary cyst

    International Nuclear Information System (INIS)

    Peng Yongjun; Du Xiumei; Yuan Jinrong; Chen Chanqing

    2007-01-01

    Objective: To analyze the method and the curative effect with CT guided percutaneous puncture aspiration and sclerosing treatment of ovary cyst. Method: 22 ovary cysts in 22 patients were treated with percutaneous puncture aspiration and underwent repeated sclerotherapy with 99.7% ethanol injection. Among the 22 patients, 18 patients had solitary ovary cyst and was aspirated with an 18-22G gauge aspiration needle. The amount of aspirated fluid varied from 30ml-500ml and 25%-30% cyst volume was replaced by appropriate ethanol Post treatment follow-up were achieved every 3 months. Results All the Punctures were successfully completed. During the 3 months to one year follow-up, 16 ovary cyst disappeared, 6 cysts were small over 50%, without main complication. Conclusion CT guided percutaneous puncture aspiration and sclerosing treatment of ovary cyst is a treatment of choice because of its safety, low complication, and high curative effect. (authors)

  13. Image-guided fine needle cytology with aspiration versus non-aspiration in retroperitoneal masses: is aspiration necessary?

    Science.gov (United States)

    Misra, Rajiv Kumar; Mitra, Shaila; Jain, Rishav Kumar; Vahikar, Shilpa; Bundela, Archana; Misra, Purak

    2015-03-01

    Although using fine needle cytology with aspiration (FNC-A) for establishing diagnoses in the retroperitoneal region has shown promise, there is scant literature supporting a role of non-aspiration cytology (FNC-NA) for this region. We assessed the accuracy and reliability of FNC-A and FNC-NA as tools for preoperative diagnosis of retroperitoneal masses and compared the results of both techniques with each other and with histopathology. Fifty-seven patients with retroperitoneal masses were subjected to FNC-A and FNC-NA. Smears were stained with May-Grunwald Giemsa and hematoxylin and eosin stain. An individual slide was objectively analysed using a point scoring system to enable comparison between FNC-A and FNC-NA. By FNC-A, 91.7% accuracy was obtained in cases of retroperitoneal lymph node lesions followed by renal masses (83.3%). The diagnostic accuracy of other sites by FNC-A varied from 75.0%-81.9%. By FNC-NA, 93.4% diagnostically accurate results were obtained in the kidney, followed by 75.0% in adrenal masses. The diagnostic accuracy of other sites by FNC-NA varied from 66.7%-72.8%. Although both techniques have their own advantages and disadvantages, FNC-NA may be a more efficient adjuvant method of sampling in retroperitoneal lesions.

  14. Abnormal Uterine Bleeding- evaluation by Endometrial Aspiration.

    Science.gov (United States)

    Singh, Pratibha

    2018-01-01

    Endometrial evaluation is generally indicated in cases presenting with abnormal uterine bleeding (AUB), especially in women more than 35 years of age. AUB encompasses a variety of presentation, for example, heavy menstrual bleeding, frequent bleeding, irregular vaginal bleeding, postcoital and postmenopausal bleeding to name a few. Many methods are used for the evaluation of such cases, with most common being sonography and endometrial biopsy with very few cases requiring more invasive approach like hysteroscopy. Endometrial aspiration is a simple and safe office procedure used for this purpose. We retrospectively analyzed cases of AUB where endometrial aspiration with Pipette (Medgyn) was done in outpatient department between January 2015 and April 2016. Case records (both paper and electronic) were used to retrieve data. One hundred and fifteen cases were included in the study after applying inclusion and exclusion criteria. Most cases were between 46 and 50 years of age followed by 41-45 years. No cases were below 25 or more than 65 years of age. Heavy menstrual bleeding was the most common presentation of AUB. Adequate samples were obtained in 86% of cases while 13.9% of cases' sample was inadequate for opinion, many of which were later underwent hysteroscopy and/or dilatation and curettage (D and C) in operation theater; atrophic endometrium was the most common cause for inadequate sample. Uterine malignancy was diagnosed in three cases. Endometrial aspiration has been compared with traditional D and C as well as postoperative histopathology in various studies with good results. Many such studies are done in India as well as in western countries confirming good correlation with histopathology and adequate tissue sample for the pathologist to give a confident diagnosis. No complication or side effect was noted with the use of this device. Endometrial aspiration is a simple, safe, and effective method to sample endometrium in cases of AUB avoiding risk of

  15. Abnormal Uterine Bleeding- evaluation by Endometrial Aspiration

    Directory of Open Access Journals (Sweden)

    Pratibha Singh

    2018-01-01

    Full Text Available Endometrial evaluation is generally indicated in cases presenting with abnormal uterine bleeding (AUB, especially in women more than 35 years of age. AUB encompasses a variety of presentation, for example, heavy menstrual bleeding, frequent bleeding, irregular vaginal bleeding, postcoital and postmenopausal bleeding to name a few. Many methods are used for the evaluation of such cases, with most common being sonography and endometrial biopsy with very few cases requiring more invasive approach like hysteroscopy. Endometrial aspiration is a simple and safe office procedure used for this purpose. Materials and Methods: We retrospectively analyzed cases of AUB where endometrial aspiration with Pipette (Medgyn was done in outpatient department between January 2015 and April 2016. Case records (both paper and electronic were used to retrieve data. Results: One hundred and fifteen cases were included in the study after applying inclusion and exclusion criteria. Most cases were between 46 and 50 years of age followed by 41–45 years. No cases were below 25 or more than 65 years of age. Heavy menstrual bleeding was the most common presentation of AUB. Adequate samples were obtained in 86% of cases while 13.9% of cases' sample was inadequate for opinion, many of which were later underwent hysteroscopy and/or dilatation and curettage (D and C in operation theater; atrophic endometrium was the most common cause for inadequate sample. Uterine malignancy was diagnosed in three cases. Discussion: Endometrial aspiration has been compared with traditional D and C as well as postoperative histopathology in various studies with good results. Many such studies are done in India as well as in western countries confirming good correlation with histopathology and adequate tissue sample for the pathologist to give a confident diagnosis. No complication or side effect was noted with the use of this device. Conclusion: Endometrial aspiration is a simple, safe, and

  16. Scintigraphic Demonstration of Endobronchial Foreign Body Aspiration

    International Nuclear Information System (INIS)

    Lee, Sun Wha

    1986-01-01

    A 2 year-old boy was presented with wheezing, cough and stridor for 1 1/2 months. The analysis of arterial blood sample disclosed PO 2 , 44 mmHg and PCO 2 , 58 mmHg. The diagnostic procedures, chest radiography including inspiratory, expiratory and lateral decubitus views and 99m Tc-MAA lung perfusion scintigraphy, were performed, on the presumptive diagnosis of foreign body aspiration. At bronchoscopy, a foreign body (fish vertebra), partially occluding the left main bronchus from 1 cm below carima, was removed.

  17. Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review Retinopatia pigmentar devido a síndrome de Bardet-Biedl: relato de caso e revisão da literatura

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    Luis Jesuino de Oliveira Andrade

    2009-10-01

    Full Text Available Bardet-Biedl syndrome (BBS is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. The authors present a typical case of pigmentary retinopathy due to Bardet-Biedl syndrome and made a brief commentary about the disease's cardinal manifestations.A síndrome de Bardet-Biedl (BBS é uma desordem autossômica recessiva rara, com heterogeneidade clínica e genética. Esta síndrome foi descrita pela primeira vez por Laurence e Moon em 1866 e outros casos foram descritos por Bardet e Biedl entre 1920 e 1922. As principais características são obesidade, polidactilia, retinopatia pigmentar, dificuldades de aprendizagem, graus de deficiência intelectual diversos, hipogonadismo e anomalias renais. Síndrome de Bardet-Biedl é fenotipicamente e geneticamente heterogêneos. O diagnóstico clínico baseia-se na presença de quatro dos cinco sinais principais da síndrome. Os autores apresentam um caso típico de retinopatia pigmentar devido à síndrome de Bardet-Biedl e fazem uma breve revisão sobre as manifestações da síndrome com especial atenção à retinopatia pigmentar.

  18. Aspirating and Nonaspirating Swallow Sounds in Children: A Pilot Study.

    Science.gov (United States)

    Frakking, Thuy; Chang, Anne; O'Grady, Kerry; David, Michael; Weir, Kelly

    2016-12-01

    Cervical auscultation (CA) may be used to complement feeding/swallowing evaluations when assessing for aspiration. There are no published pediatric studies that compare the properties of sounds between aspirating and nonaspirating swallows. To establish acoustic and perceptual profiles of aspirating and nonaspirating swallow sounds and determine if a difference exists between these 2 swallowing types. Aspiration sound clips were obtained from recordings using CA simultaneously undertaken with videofluoroscopic swallow study. Aspiration was determined using the Penetration-Aspiration Scale. The presence of perceptual swallow/breath parameters was rated by 2 speech pathologists who were blinded to the type of swallow. Acoustic data between groups were compared using Mann Whitney U-tests, while perceptual differences were determined by a test of 2 proportions. Combinations of perceptual parameters of 50 swallows (27 aspiration, 23 no aspiration) from 47 children (57% male) were statistically analyzed using area under a receiver operating characteristic (aROC), sensitivity, specificity, and positive and negative predictive values to determine predictors of aspirating swallows. The combination of post-swallow presence of wet breathing and wheeze and absence of GRS and normal breathing was the best predictor of aspiration (aROC = 0.82, 95% CI, 0.70-0.94). There were no significant differences between these 2 swallow types for peak frequency, duration, and peak amplitude. Our pilot study has shown that certain characteristics of swallow obtained using CA may be useful in the prediction of aspiration. However, further research comparing the acoustic swallowing sound profiles of normal children to children with dysphagia (who are aspirating) on a larger scale is required. © The Author(s) 2016.

  19. Gender and Leadership Aspiration: The Impact of the Organizational Environment

    OpenAIRE

    Fritz, Claudia

    2016-01-01

    markdownabstractSummary The aim of this dissertation is to examine gender differences in leadership aspiration. Although some important work regarding gender-specific aspiration has been done already, conditions fostering leadership aspiration – particularly among women – are not completely understood. Therefore, the focus of this dissertation is on assessing the potential impact of the organizational environment, including formal and informal elements, as well as relevant actors and their re...

  20. Aspirations langagieres: Negociation et apprentissage du francais (Language Aspirations: Negotiation and Learning French).

    Science.gov (United States)

    Lepetit, Daniel; Cichocki, Wladyslaw

    1990-01-01

    A survey of 130 beginning French students at the University of Windsor (Canada) focused on their second language aspirations, expectations, and anticipated needs. Interpersonal relations appear to be the primary motivator, with travel and instrumental motivation secondary. (20 references) (Author/MSE)

  1. A low-hemolysis blood aspirator conserves blood during surgery.

    Science.gov (United States)

    Clague, C T; Blackshear, P L

    1995-01-01

    Blood damage caused by traditional vacuum-operated suction tubes, particularly when air is aspirated along with the blood, usually exceeds damage from all other components. In addition to platelet injury, there is a high degree of hemolysis, which leads to high plasma hemoglobin levels and reduces the number of red blood cells available for reinfusion during cases of blood conservation, such as autologous transfusion and cardiac bypass. This work was undertaken to minimize hemolysis, and the accompanying platelet destruction, during aspiration, with the design of a jet-driven aspirator that separates and removes air from blood immediately within the suction tip. The jet-driven aspirator can suction blood at a range of rates from 100 to at least 700 ml/min, separates and removes 80-100% of aspirated air, operates at any orientation, and generates subatmospheric pressures on the order of only 1 inch H2O. In-vitro hemolysis testing showed a significant reduction in average plasma hemoglobin release, from 19.4 mg/dl to 1.8 mg/dl, when air was removed during blood aspiration. In comparative testing with a conventional vacuum suction tube, the jet-driven aspirator showed significantly less hemolysis than the conventional aspirator at comparable rates of air and blood aspiration.

  2. How useful is gastroesophageal reflux scintigraphy in suspected childhood aspiration

    Energy Technology Data Exchange (ETDEWEB)

    Fawcett, H.D.; Adams, J.C.; Hayden, C.K.; Swischuk, L.E.

    1988-05-01

    It has been suggested that gastroesophageal reflux scintigraphy might be useful in assisting one in determining therapy for patients suspected of aspirating or becoming apneic secondary to gastroesophageal reflux. This, however, has not been our experience and in reviewing 23 patients with recurrent pneumonia and/or apnea who had gastroesophageal reflux scintigraphy, we were able to detect aspiration in only one. This was especially significant since 13 (59%) of these patients had demonstrable reflux, and of these, eight were treated successfully for suspected aspiration even though none was demonstrated isotopically. To be sure, the demonstration of pulmonary aspiration with gastroesophageal reflux scintigraphy had little influence on patient selection and response to therapy. For this reason we feel there is little justification in depending on the GRS for the specific purpose of trying to document pulmonary aspiration in infants and children who are refluxing. One of the more serious complications of gastroesophageal (GE) reflux is aspiration leading to recurrent pulmonary infections and/or apnea. However, it always has been difficult to demonstrate actual aspiration into the lungs, and to be sure, barium studies of the upper GI tract seldom reveal this complication. Recently, however, considerable interest has been generated in gastroesophageal scintigraphy (GRS) as a possible means of documenting such aspiration. Rationale for this stems from the fact that suspected patients can be studied over a longer period of time and in addition, delayed and overnight images can be obtained. However, our experience does not support GRS as being an adequate method for demonstrating aspiration.

  3. Shifts in species interactions due to the evolution of functional differences between endemics and non-endemics: an endemic syndrome hypothesis.

    Directory of Open Access Journals (Sweden)

    Courtney E Gorman

    Full Text Available Species ranges have been shifting since the Pleistocene, whereby fragmentation, isolation, and the subsequent reduction in gene flow have resulted in local adaptation of novel genotypes and the repeated evolution of endemic species. While there is a wide body of literature focused on understanding endemic species, very few studies empirically test whether or not the evolution of endemics results in unique function or ecological differences relative to their widespread congeners; in particular while controlling for environmental variation. Using a common garden composed of 15 Eucalyptus species within the subgenus Symphyomyrtus (9 endemic to Tasmania, 6 non-endemic, here we hypothesize and show that endemic species are functionally and ecologically different from non-endemics. Compared to non-endemics, endemic Eucalyptus species have a unique suite of functional plant traits that have extended effects on herbivores. We found that while endemics occupy many diverse habitats, they share similar functional traits potentially resulting in an endemic syndrome of traits. This study provides one of the first empirical datasets analyzing the functional differences between endemics and non-endemics in a common garden setting, and establishes a foundation for additional studies of endemic/non-endemic dynamics that will be essential for understanding global biodiversity in the midst of rapid species extinctions and range shifts as a consequence of global change.

  4. Identification of distinct genes associated with seawater aspiration-induced acute lung injury by gene expression profile analysis

    Science.gov (United States)

    Liu, Wei; Pan, Lei; Zhang, Minlong; Bo, Liyan; Li, Congcong; Liu, Qingqing; Wang, Li; Jin, Faguang

    2016-01-01

    Seawater aspiration-induced acute lung injury (ALI) is a syndrome associated with a high mortality rate, which is characterized by severe hypoxemia, pulmonary edema and inflammation. The present study is the first, to the best of our knowledge, to analyze gene expression profiles from a rat model of seawater aspiration-induced ALI. Adult male Sprague-Dawley rats were instilled with seawater (4 ml/kg) in the seawater aspiration-induced ALI group (S group) or with distilled water (4 ml/kg) in the distilled water negative control group (D group). In the blank control group (C group) the rats' tracheae were exposed without instillation. Subsequently, lung samples were examined by histopathology; total protein concentration was detected in bronchoalveolar lavage fluid (BALF); lung wet/dry weight ratios were determined; and transcript expression was detected by gene sequencing analysis. The results demonstrated that histopathological alterations, pulmonary edema and total protein concentrations in BALF were increased in the S group compared with in the D group. Analysis of differential gene expression identified up and downregulated genes in the S group compared with in the D and C groups. A gene ontology analysis of the differential gene expression revealed enrichment of genes in the functional pathways associated with neutrophil chemotaxis, immune and defense responses, and cytokine activity. Kyoto Encyclopedia of Genes and Genomes analysis revealed that the cytokine-cytokine receptor interaction pathway was one of the most important pathways involved in seawater aspiration-induced ALI. In conclusion, activation of the cytokine-cytokine receptor interaction pathway may have an essential role in the progression of seawater aspiration-induced ALI, and the downregulation of tumor necrosis factor superfamily member 10 may enhance inflammation. Furthermore, IL-6 may be considered a biomarker in seawater aspiration-induced ALI. PMID:27509884

  5. [A retrospective clinicopathological study of aspiration pneumonia in the elderly].

    Science.gov (United States)

    Pu, Chun; Zhong, Xuefeng; Fang, Fang; Yang, Yimeng; Xu, Xiaomao; Sun, Tieying

    2014-08-01

    To explore the clinicopathological characteristics of aspiration pneumonia in the elderly. The clinical data of 30 cases of autopsy-proven aspiration pneumonia in Beijing Hospital from 1973 to 2002 were reviewed. The patients consisted of 28 males and 2 females, aged from 63 to 103 [mean (83 ± 9)] years. Only 15 cases were clinically diagnosed as aspiration pneumonia before death. Concomitant diseases were severe and complex, mostly coronary disease, cerebrovascular disease, hypertension, COPD, and diabetes mellitus. All the patients suffered from at least 3 concomitant diseases. Long-term bedridden and nasogastric feeding was seen in 11 and 17 patients respectively. The clinical presentation and chest X-ray of aspiration pneumonia in the elderly were nonspecific and variable. Mixed infections were common . The main bacteria isolated were Gram-negative bacilli, in particular Pseudomonas aeruginosa, Stenotrophomonas maltophilia, Escherichia coli and Candida albicans. By pathology, macrophages with foreign bodies were found in all the 30 cases and multiple small abscesses were found in 14 cases. The lesions were adjacent to the bronchioles and in the lung tissue around the bronchioles, mostly multi-lobar and bilateral. Unilateral or bilateral pleural effusion developed in 20 patients. The accordance between radiological and pathological diagnosis of aspiration pneumonia was very poor. The foci of infection detected by X-ray were proven by autopsy in 13 patients, while pleural effusions in X-ray were proven by autopsy in 15 patients. Multi-concomitant diseases, mixed infection and extra-pulmonary presentations were common in elderly patients with aspiration pneumonia. Multiple small abscesses were the pathological characteristics of aspiration pneumonia in the aged. A definite clinical diagnosis of aspiration pneumonia was difficult. Recurrent silent microaspiration was a feature of aspiration in the elderly. The assessment of risk factor of aspiration played an

  6. Aspiration and sclerotherapy versus hydrocoelectomy for treating hydrocoeles.

    Science.gov (United States)

    Shakiba, Behnam; Heidari, Kazem; Jamali, Arsia; Afshar, Kourosh

    2014-11-13

    Hydrocoeles are common cystic scrotal abnormalities, described as a fluid-filled collection between the visceral and parietal layers of the tunica vaginalis of the scrotum. There are two approaches for treatment of hydrocoeles: surgical open hydrocoelectomy and aspiration followed by sclerotherapy.  We compared the benefits and harms of aspiration and sclerotherapy versus hydrocoelectomy for the management of hydrocoeles. We searched the Cochrane Renal Group's Specialised Register to 2 August 2014 through contact with the Trials' Search Co-ordinator using search terms relevant to this review. Randomised controlled trials (RCTs) and quasi-RCTs comparing aspiration and sclerotherapy versus hydrocoelectomy for the management of hydrocoeles. Two authors independently extracted data and assessed risk of bias in the included studies. Random effects meta-analyses were performed using relative risk (RR) for dichotomous outcomes and mean differences (MD) for continuous outcomes, with 95% confidence intervals (CI). We found four small studies that met the inclusion criteria. These studies enrolled 275 patients with 282 hydroceles. Participants were randomised to aspiration and sclerotherapy (155 patients with 159 hydroceles) and surgery (120 patients with 123 hydroceles). All studies were assessed as having low or unclear risk of bias for selection bias, detection bias, attrition bias and selective reporting bias. Blinding was not possible for participants and investigators based on the type of interventions. Blinding for statisticians was not reported in any of included studies.There were no significant difference in clinical cure between the two groups (3 studies, 215 participants: RR 0.45, 95% CI 0.18 to 1.10), however there was significant heterogeneity (I² = 95%). On further investigation one study contributed all of the heterogeneity. This could be due to the agent used or perhaps due to the fact that this is a much older study than the other two studies included in

  7. Standardization of androstenedione and estrone radioimmunoassay and profile of sex steroids, gonadotropins and prolactin - in patients with chronic anovulation due to inappropriate feedback (polycystic ovarian syndrome)

    International Nuclear Information System (INIS)

    Vilanova, Maria do Socorro Veras

    1992-01-01

    Full text. In order to evaluate the profile of the sex steroids gonadotropin and prolactin in polycystic ovarian syndrome (POS), 24 patients with POS were studied and compared with 20 normal women during the early follicular phase of the menstrual cycle. Radioimmunoassay techniques for androstenedione (A) and estrone (E 1 ) were standardized for the purpose of the study. Androstenedione and estrone were extracted from plasma with ethyl ether. The assays were maintained in equilibrium and the labelled hormone-antibody complex was then separated from the free hormone using dextran charcoal. The sensitivity of the method was 6.8 pg/tube for A and 3.7 pg/tube for E 1 . Nonspecific binding ws 3.4 for A and 3.3 for E 1 . The interessay error at the D50 level was 15.6 for A and 8.6 for E 1 . Patients with POS had significantly higher basal levels of LH, A, T E 1 and PRL and similar FSH and DHEA-S levels when compared with normal women. The LH/FSH ratio was significantly elevated and the A/T ratio was significantly decreased. The A/E 1 and T/E 2 ratios were elevated and the E 1 /E 2 was decreased, although the differences were not statistically significant. A positive correlation between A and E 1 was observed in patients with POS. In view of the above data, it was concluded that: the quality control parameters of the radioimmunoassay for A and E 1 standardized in the present study are considered satisfactory, and the assay could be used for diagnosis and research; the patients with POS have a different sex steroid and gonadotropin profile when compared normal women during the early follicular phase of the menstrual cycle

  8. Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4 due to PTRF-CAVIN mutations.

    Directory of Open Access Journals (Sweden)

    Anna Rajab

    2010-03-01

    Full Text Available We investigated eight families with a novel subtype of congenital generalized lipodystrophy (CGL4 of whom five members had died from sudden cardiac death during their teenage years. ECG studies revealed features of long-QT syndrome, bradycardia, as well as supraventricular and ventricular tachycardias. Further symptoms comprised myopathy with muscle rippling, skeletal as well as smooth-muscle hypertrophy, leading to impaired gastrointestinal motility and hypertrophic pyloric stenosis in some children. Additionally, we found impaired bone formation with osteopenia, osteoporosis, and atlanto-axial instability. Homozygosity mapping located the gene within 2 Mbp on chromosome 17. Prioritization of 74 candidate genes with GeneDistiller for high expression in muscle and adipocytes suggested PTRF-CAVIN (Polymerase I and transcript release factor/Cavin as the most probable candidate leading to the detection of homozygous mutations (c.160delG, c.362dupT. PTRF-CAVIN is essential for caveolae biogenesis. These cholesterol-rich plasmalemmal vesicles are involved in signal-transduction and vesicular trafficking and reside primarily on adipocytes, myocytes, and osteoblasts. Absence of PTRF-CAVIN did not influence abundance of its binding partner caveolin-1 and caveolin-3. In patient fibroblasts, however, caveolin-1 failed to localize toward the cell surface and electron microscopy revealed reduction of caveolae to less than 3%. Transfection of full-length PTRF-CAVIN reestablished the presence of caveolae. The loss of caveolae was confirmed by Atomic Force Microscopy (AFM in combination with fluorescent imaging. PTRF-CAVIN deficiency thus presents the phenotypic spectrum caused by a quintessential lack of functional caveolae.

  9. Cost-effectiveness of exercise therapy after corticosteroid injection for moderate to severe shoulder pain due to subacromial impingement syndrome: a trial-based analysis.

    Science.gov (United States)

    Jowett, Sue; Crawshaw, Dickon P; Helliwell, Philip S; Hensor, Elizabeth M A; Hay, Elaine M; Conaghan, Philip G

    2013-08-01

    To perform a cost-effectiveness analysis of subacromial corticosteroid injection combined with exercise compared with exercise alone in patients with moderate to severe shoulder pain from subacromial impingement syndrome. A within-trial cost-effectiveness analysis with 232 patients randomized to physiotherapy-led injection combined with exercise (n = 115) or exercise alone (n = 117). The analysis was from a health care perspective with 24-week follow-up. Resource use information was collected from all patients on interventions, medication, primary and secondary care contacts, private health care use and over-the-counter purchases. The measure of outcome was quality-adjusted life years (QALYs), calculated from EQ-5D responses at baseline and three further time points. An incremental cost-effectiveness analysis was conducted. Mean per patient NHS costs (£255 vs £297) and overall health care costs (£261 vs £318) were lower in the injection plus exercise arm, but this difference was not statistically significant. Total QALYs gained were very similar in the two trial arms (0.3514 vs 0.3494 QALYs), although slightly higher in the injection plus exercise arm, indicating that injection plus exercise may be the dominant treatment option. At a willingness to pay of £20,000 per additional QALY gained, there was a 61% probability that injection plus exercise was the most cost-effective option. Injection plus exercise delivered by therapists may be a cost-effective use of resources compared with exercise alone and lead to lower health care costs and less time off work. International Standard Randomised Controlled Trial Number Register, http://www.controlled-trials.com/isrctn/, ISRCT 25817033.

  10. Pathogenesis of Acute Respiratory Distress Syndrome

    Directory of Open Access Journals (Sweden)

    A. M. Golubev

    2012-01-01

    Full Text Available Acute respiratory distress syndrome (ARDS is a common complication of many diseases. Its polyetiological pattern determines the specific features of lung morphological changes and the clinical course of ARDS. Objective: to analyze the pathogenesis of ARDS in the context of the general pathological processes underlying its development. Material and methods. More than 200 lungs from the people who had died from severe concomitant injury or ARDS-complicated pneumonia were investigated. More than 150 rat experiments simulated various types of lung injury: ventilator-induced lung injury with different ventilation parameters; reperfusion injuries (systemic circulation blockade due to 12-minute vascular fascicle ligation, followed by the recovery of cardiac performance and breathing; microcirculatory disorder (injection of a thromboplastin solution into the jugular vein; blood loss; betaine-pepsin aspiration; and closed chest injury. Different parts of the right and left lungs were histologically examined 1 and 3 hours and 1 and 3 days after initiation of the experiment. Lung pieces were fixed in 10% neutral formalin solution and embedded in paraffin. Histological sections were stained with hematoxylin and eosin and using the van Gieson and Weigert procedures; the Schiff test was used. Results. The influence of aggression factors (trauma, blood loss, aspiration, infection, etc. results in damage to the lung and particularly air-blood barrier structures (endothelium, alveolar epithelium, their basement membrane. In turn the alteration of cellular and extracellular structures is followed by the increased permeability of hemomicrocirculatory bed vessels, leading to the development of non-cardiogenic (interstitial, alveolar pulmonary edema that is a central component in the pathogenesis of ARDS. Conclusion. The diagnosis of the early manifestations of ARDS must account for the nature of an aggression factor, the signs confirming the alteration of the lung

  11. Parathyroid aspiration directed by angiography: an alternative to venous sampling

    International Nuclear Information System (INIS)

    Krudy, A.G.; Doppman, J.L.; Marx, S.J.; Norton, J.A.; Spiegel, A.M.; Santora, A.C. II; Aurbach, G.D.

    1984-01-01

    Not all parathyroid glands can be visualized by CT or ultrasound and, therefore, cannot be aspirated using these techniques. The authors report the localization of a parathyroid gland by arteriography and needle aspiration under fluoroscopic guidance. This technique can be used to confirm a diagnosis of hypervascular parathyroid tissue that cannot otherwise be confirmed

  12. Aspiration af dentalt fremmedlegeme under tandlaegebesøg

    DEFF Research Database (Denmark)

    Omland, Silje Haukali; Lindegaard, Peter; Omland, Øyvind

    2009-01-01

    We present a case of foreign body aspiration, the diagnosis of which was delayed until one and a half month after the event. Usually foreign body aspiration leads to acute symptoms, but these may be absent, especially in elderly patients, which delays and complicates diagnosis. Late complications...

  13. Measurement of membrane elasticity by micro-pipette aspiration

    DEFF Research Database (Denmark)

    Henriksen, Jonas Rosager; Ipsen, John H.

    2004-01-01

    The classical micro-pipette aspiration technique, applied for measuring the membrane bending elasticity, is in the present work reviewed and extended to span the range of pipette aspiration pressures going through the °accid (low pressures) to tense (high pressures) membrane regime. The quality...

  14. Videofluoroscopic Predictors of Penetration-Aspiration in Parkinson's Disease Patients.

    Science.gov (United States)

    Argolo, Natalie; Sampaio, Marília; Pinho, Patrícia; Melo, Ailton; Nóbrega, Ana Caline

    2015-12-01

    Parkinson's disease (PD) patients show a high prevalence of swallowing disorders and tracheal aspiration of food. The videofluoroscopic study of swallowing (VFSS) allows clinicians to visualize the visuoperceptual and temporal parameters associated with swallowing disorders in an attempt to predict aspiration risk. However, this subject remains understudied in PD populations. Our aim was to identify the predictors of penetration-aspiration in PD patients using the VFSS. Consecutive patients were evaluated using VFSS with different consistencies and volumes of food. A speech-language pathologist measured the type of intra-oral bolus organization, loss of bolus control, bolus location at the initiation of the pharyngeal swallow, the presence of multiple swallows, piecemeal deglutition, bolus residue in the pharyngeal recesses and temporal measures. Scores ≥3 on the penetration-aspiration scale (PAS) indicated the occurrence of penetration-aspiration. Using logistic marginal regression, we found that residue in the vallecula, residue in the upper esophageal sphincter and piecemeal deglutition were associated with penetration-aspiration (odds ratio (OR) = 4.09, 2.87 and 3.83; P = 0.0040, 0.0071 and 0.0009, respectively). Penetration/aspiration occurred only with fluids (both of thin and thick consistency), and no significant differences were observed between fluid types or food volumes. The mechanisms underlying dysphagia and penetration/aspiration in PD patients and indications for further studies are discussed.

  15. Study of Educational Aspirations of Preparatory School Students in Yemen.

    Science.gov (United States)

    Edington, Everett D.

    To identify causes for low enrollment in secondary agricultural schools in Yemen, the United States Agency for International Development and the Yemen Ministry of Education surveyed 990 preparatory (junior high) students, examining their educational aspirations, differences between rural and urban youth, major influences on student aspirations,…

  16. Aspirations and occupational achievements of Dutch fathers and mothers

    NARCIS (Netherlands)

    van der Horst, Mariska; van der Lippe, Tanja; Kluwer, Esther

    2014-01-01

    Purpose – The purpose of this paper is to investigate how work and family aspirations relate to occupational achievements and gender differences herein. Design/methodology/approach – Using data from 2009 the authors examined the relationship between career and childrearing aspirations and

  17. Aspirations of young people living in disadvantaged areas in Denmark

    DEFF Research Database (Denmark)

    Frørup, Anna Kathrine; Jensen, Niels Rosendal

    2017-01-01

    how young people's (living in a socially disadvantaged area) possibilities, aspirations and demands are raised, strengthened, transformed or put aside and in what way they feel participating within different local programmes.......how young people's (living in a socially disadvantaged area) possibilities, aspirations and demands are raised, strengthened, transformed or put aside and in what way they feel participating within different local programmes....

  18. Rural Aspirations, Rural Futures: From "Problem" to Possibility

    Science.gov (United States)

    Tieken, Mara Casey; San Antonio, Donna M.

    2016-01-01

    Young people aspire, make choices, and develop within a particular place and historical context. Recently, federal and state governments, policy and research institutes, and advocacy organizations have shown a growing interest in the aspirations and transitions of rural youth--and, in particular, the role that schools play in shaping and…

  19. Diagnosis Of Thyroid Enlargement: Use Of Fine Needle Aspiration ...

    African Journals Online (AJOL)

    One hundred and ten Fine Needle Aspiration Biopsies (FNAC) obtained from 87 patients with thyroid enlargement or nodules were retrospectively reviewed. Aspiration biopsy was accomplished using 21-gauge needle attached with 20-ml plastic syringe. There were 14 males and 73 females involved in the study. Sixty- four ...

  20. Debridement of vaginal radiation ulcers using the surgical Ultrasonic Aspirator

    International Nuclear Information System (INIS)

    Vanderburgh, E.; Nahhas, W.A.

    1990-01-01

    The surgical Ultrasonic Aspirator (USA) is a fairly new surgical instrument used for an increasingly wide range of procedures. This paper introduces a new application: debridement of vulvovaginal necrotic ulcers resulting from intracavitary radiation therapy. The ultrasonic aspirator allowed removal of the soft, necrotic tissue while preserving underlying healthy, firm tissue and blood vessels

  1. Total bilirubin in nasogastric aspirates: A potential new indicator of ...

    African Journals Online (AJOL)

    Background: The aim of our study was to investigate if total bilirubin (T-bil), amylase (Amy), and sodium (Na) in nasogastric (NG) aspirates can refl ect gastrointestinal motility reliably. Materials and Methods: NG aspirates from all laparotomies lasting more than 150 min in children less than 12 months old were studied for 3 ...

  2. Aspiration Pneumonia in Acute Stroke | SALAMI | Sahel Medical ...

    African Journals Online (AJOL)

    Abstract. This was a prospective study that was conducted between July 2000 and September 2001. It was designed to determine the incidence and the risk factor(s) of aspiration pneumonia in patients with acute cerebrovascular accident. Aspiration pneumonia was recorded in 23.5% of the 68 patients that were recruited.

  3. Students' Aspirations, Expectations and School Achievement: What Really Matters?

    Science.gov (United States)

    Khattab, Nabil

    2015-01-01

    Using the Longitudinal Study of Young People in England (LSYPE), this study examines how different combinations of aspirations, expectations and school achievement can influence students' future educational behaviour (applying to university at the age of 17-18). The study shows that students with either high aspirations or high expectations have…

  4. Cognitive Correlates of Adolescents' Aspirations to Leadership: A Developmental Study.

    Science.gov (United States)

    Singer, Ming

    1990-01-01

    Examined age and gender differences in leadership aspirations among adolescents (N=130) by measuring overall leadership aspirations, valence-instrumentality expectancies for leadership outcomes, self-efficacy perceptions, and attributions of effective leadership. Found significant gender differences in valence scores and age differences in…

  5. Discordance Rate between Thyroid Fine Needle Aspiration Cytology ...

    African Journals Online (AJOL)

    Discordance Rate between Thyroid Fine Needle Aspiration Cytology and Histopathologic Diagnosis. Wondwossen Ergete, Daniel Abebe. Abstract. Fine Needle Aspiration (FNA) of the thyroid is a low cost procedure, which can give an accurate diagnosis promptly. The objective of this study was to assess the diagnostic ...

  6. Cold Antimatter Plasmas, and Aspirations for Cold Antihydrogen

    Science.gov (United States)

    2002-06-24

    UNCLASSIFIED Defense Technical Information Center Compilation Part Notice ADP012494 TITLE: Cold Antimatter Plasmas, and Aspirations for Cold...part numbers comprise the compilation report: ADP012489 thru ADP012577 UNCLASSIFIED Cold Antimatter Plasmas, and Aspirations for Cold Antihydrogen G...and positrons. The antiprotons come initially from the new Antiproton Decel- erator facility at CERN. Good control of such cold antimatter plasmas is

  7. 21 CFR 886.4150 - Vitreous aspiration and cutting instrument.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Vitreous aspiration and cutting instrument. 886.4150 Section 886.4150 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN... cutting instrument. (a) Identification. A vitreous aspiration and cutting instrument is an electrically...

  8. Eagle's Syndrome

    OpenAIRE

    Pinheiro,Thaís Gonçalves; Soares,Vítor Yamashiro Rocha; Ferreira,Denise Bastos Lage; Raymundo,Igor Teixeira; Nascimento,Luiz Augusto; Oliveira,Carlos Augusto Costa Pires de

    2013-01-01

    Summary Introduction:?Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is diffic...

  9. Altered pathogenesis of porcine respiratory coronavirus in pigs due to immunosuppressive effects of dexamethasone: implications for corticosteroid use in treatment of severe acute respiratory syndrome coronavirus.

    Science.gov (United States)

    Jung, Kwonil; Alekseev, Konstantin P; Zhang, Xinsheng; Cheon, Doo-Sung; Vlasova, Anastasia N; Saif, Linda J

    2007-12-01

    The pathogenesis and optimal treatments for severe acute respiratory syndrome (SARS) are unclear, although corticosteroids were used to reduce lung and systemic inflammation. Because the pulmonary pathology of porcine respiratory coronavirus (PRCV) in pigs resembles SARS, we used PRCV as a model to clarify the effects of the corticosteroid dexamethasone (DEX) on coronavirus (CoV)-induced pneumonia. Conventional weaned pigs (n = 130) in one of four groups (PRCV/phosphate-buffered saline [PBS] [n = 41], PRCV/DEX [n = 41], mock/PBS [n = 23], and mock/DEX [n = 25]) were inoculated intranasally and intratracheally with the ISU-1 strain of PRCV (1 x 10(7) PFU) or cell culture medium. DEX was administered (once daily, 2 mg/kg of body weight/day, intramuscularly) from postinoculation day (PID) 1 to 6. In PRCV/DEX pigs, significantly milder pneumonia, fewer PRCV-positive cells, and lower viral RNA titers were present in lungs early at PID 2; however, at PID 4, 10, and 21, severe bronchointerstitial pneumonia, significantly higher numbers of PRCV-positive cells, and higher viral RNA titers were observed compared to results for PRCV/PBS pigs. Significantly lower numbers of CD2(+), CD3(+), CD4(+), and CD8(+) T cells were also observed in lungs of PRCV/DEX pigs than in those of PRCV/PBS pigs at PID 8 and 10, coincident with fewer gamma interferon (IFN-gamma)-secreting cells in the tracheobronchial lymph nodes as determined by enzyme-linked immunospot assay. Our results confirm that DEX treatment alleviates PRCV pneumonia early (PID 2) in the infection but continued use through PID 6 exacerbates later stages of infection (PID 4, 10, and 21), possibly by decreasing cellular immune responses in the lungs (IFN-gamma-secreting T cells), thereby creating an environment for more-extensive viral replication. These data have potential implications for corticosteroid use with SARS-CoV patients and suggest a precaution against prolonged use based on their unproven efficacy in humans

  10. Fluid dynamic design and experimental study of an aspirated temperature measurement platform used in climate observation

    International Nuclear Information System (INIS)

    Yang, Jie; Liu, Qingquan; Dai, Wei; Ding, Renhui

    2016-01-01

    Due to the solar radiation effect, current air temperature sensors inside a thermometer screen or radiation shield may produce measurement errors that are 0.8 °C or higher. To improve the observation accuracy, an aspirated temperature measurement platform is designed. A computational fluid dynamics (CFD) method is implemented to analyze and calculate the radiation error of the aspirated temperature measurement platform under various environmental conditions. Then, a radiation error correction equation is obtained by fitting the CFD results using a genetic algorithm (GA) method. In order to verify the performance of the temperature sensor, the aspirated temperature measurement platform, temperature sensors with a naturally ventilated radiation shield, and a thermometer screen are characterized in the same environment to conduct the intercomparison. The average radiation errors of the sensors in the naturally ventilated radiation shield and the thermometer screen are 0.44 °C and 0.25 °C, respectively. In contrast, the radiation error of the aspirated temperature measurement platform is as low as 0.05 °C. This aspirated temperature sensor allows the radiation error to be reduced by approximately 88.6% compared to the naturally ventilated radiation shield, and allows the error to be reduced by a percentage of approximately 80% compared to the thermometer screen. The mean absolute error and root mean square error between the correction equation and experimental results are 0.032 °C and 0.036 °C, respectively, which demonstrates the accuracy of the CFD and GA methods proposed in this research.

  11. Fluid dynamic design and experimental study of an aspirated temperature measurement platform used in climate observation.

    Science.gov (United States)

    Yang, Jie; Liu, Qingquan; Dai, Wei; Ding, Renhui

    2016-08-01

    Due to the solar radiation effect, current air temperature sensors inside a thermometer screen or radiation shield may produce measurement errors that are 0.8 °C or higher. To improve the observation accuracy, an aspirated temperature measurement platform is designed. A computational fluid dynamics (CFD) method is implemented to analyze and calculate the radiation error of the aspirated temperature measurement platform under various environmental conditions. Then, a radiation error correction equation is obtained by fitting the CFD results using a genetic algorithm (GA) method. In order to verify the performance of the temperature sensor, the aspirated temperature measurement platform, temperature sensors with a naturally ventilated radiation shield, and a thermometer screen are characterized in the same environment to conduct the intercomparison. The average radiation errors of the sensors in the naturally ventilated radiation shield and the thermometer screen are 0.44 °C and 0.25 °C, respectively. In contrast, the radiation error of the aspirated temperature measurement platform is as low as 0.05 °C. This aspirated temperature sensor allows the radiation error to be reduced by approximately 88.6% compared to the naturally ventilated radiation shield, and allows the error to be reduced by a percentage of approximately 80% compared to the thermometer screen. The mean absolute error and root mean square error between the correction equation and experimental results are 0.032 °C and 0.036 °C, respectively, which demonstrates the accuracy of the CFD and GA methods proposed in this research.

  12. Fluid dynamic design and experimental study of an aspirated temperature measurement platform used in climate observation

    Energy Technology Data Exchange (ETDEWEB)

    Yang, Jie, E-mail: yangjie396768@163.com [Key Laboratory for Aerosol-Cloud-Precipitation of China Meteorological Administration, Nanjing 210044 (China); School of Atmospheric Physics, Nanjing University of Information Science and Technology, Nanjing 210044 (China); Liu, Qingquan [Jiangsu Key Laboratory of Meteorological Observation and Information Processing, Nanjing 210044 (China); Jiangsu Collaborative Innovation Center on Atmospheric Environment and Equipment Technology, Nanjing 210044 (China); Dai, Wei [School of Atmospheric Physics, Nanjing University of Information Science and Technology, Nanjing 210044 (China); Ding, Renhui [Jiangsu Meteorological Observation Center, Nanjing 210008 (China)

    2016-08-15

    Due to the solar radiation effect, current air temperature sensors inside a thermometer screen or radiation shield may produce measurement errors that are 0.8 °C or higher. To improve the observation accuracy, an aspirated temperature measurement platform is designed. A computational fluid dynamics (CFD) method is implemented to analyze and calculate the radiation error of the aspirated temperature measurement platform under various environmental conditions. Then, a radiation error correction equation is obtained by fitting the CFD results using a genetic algorithm (GA) method. In order to verify the performance of the temperature sensor, the aspirated temperature measurement platform, temperature sensors with a naturally ventilated radiation shield, and a thermometer screen are characterized in the same environment to conduct the intercomparison. The average radiation errors of the sensors in the naturally ventilated radiation shield and the thermometer screen are 0.44 °C and 0.25 °C, respectively. In contrast, the radiation error of the aspirated temperature measurement platform is as low as 0.05 °C. This aspirated temperature sensor allows the radiation error to be reduced by approximately 88.6% compared to the naturally ventilated radiation shield, and allows the error to be reduced by a percentage of approximately 80% compared to the thermometer screen. The mean absolute error and root mean square error between the correction equation and experimental results are 0.032 °C and 0.036 °C, respectively, which demonstrates the accuracy of the CFD and GA methods proposed in this research.

  13. A Clinical Study on Management of Incomplete Abortion by Manual Vacuum Aspiration (MVA

    Directory of Open Access Journals (Sweden)

    Arifa Akter Jahan

    2012-07-01

    Full Text Available Background: Abortion is an important social and public health issue. In Bangladesh complication from unsafe abortion is one of the leading causes of maternal mortality. It is a serious health problem. World Health Organisation estimates that 14% of maternal deaths which occur every year in the countries of South Asia including Bangladesh are due to abortion. Study shows manual vacuum aspiration procedure is safe and effective in incomplete abortion. Very few clinical trials were carried out in Bangladesh to assess the safety and effectivity of manual vacuum aspiration in managing incomplete abortion. Objective: To find out the outcome of manual vacuum aspiration in the management of patients of incomplete abortion. Materials and Methods: This observational descriptive study was conducted in the department of Obstetrics & Gynaecology, Dhaka Medical College & Hospital from June to December, 2004. One hundred cases of diagnosed incomplete abortion up to 12 weeks of gestation were managed by manual vacuum aspiration during this period. A data recording sheet was designed for this purpose. Haemodynamically stable patients with no history of induced abortion and fever were enrolled. Results: Procedure time of manual vacuum aspiration was short, average duration was 7 minutes. Bleeding was minimum (20-30 mL in 67% cases and weighted mean was 29.80 mL. Eighty three percent patients were stable during the procedure and only 3% needed blood transfusion. Nonnarcotic analgesics were used in 59% cases and 33% needed only proper counselling. Average duration of hospital stay was 2 hours. Effectiveness of the procedure was about 98% with very low post procedure complication rate (2%. Conclusion: MVA procedure is a safe and effective technique of uterine evacuation in incomplete abortion. It is quick, less expensive, effective and less painful. Hospital stay and chance of perforation of uterus is less. So this procedure should be considered by health care

  14. [Fine needle aspiration cytology of mammography screening

    DEFF Research Database (Denmark)

    Engvad, B.; Laenkholm, A.V.; Schwartz, Thue W.

    2009-01-01

    INTRODUCTION: In the year 2000 a quality assurance programme for the preoperative breast diagnostics was introduced in Denmark. The programme was based on the "European guidelines for quality assurance in breast cancer screening and diagnosis" where - among other measures - five cytological...... diagnostic classes were introduced. The aim of this study was to evaluate the quality assurance programme in a screening population to determine whether fine needle aspiration cytology (FNAC) as first choice remains a useful tool in the preoperative diagnostics, or if needle core biopsy should be the first...... of 66% of the 783 FNACs had a malignant cytology diagnosis, which in 99% of the cases turned out to be the correct diagnosis. Four lesions were false positives all of which represented benign proliferative breast diseases. The surgical procedures in these cases were either excisional biopsy...

  15. Foreign body aspiration masquerading as difficult asthma

    Directory of Open Access Journals (Sweden)

    Rai S

    2007-01-01

    Full Text Available It is important to assess patients of difficult/therapy resistant asthma carefully in order to identify whether there are any correctable factors that may contribute to their poor control. It is critical to make a diagnosis of asthma and to exclude other airway diseases. A 65-years-old lady presented with repeated acute episodes of dyspnoea and wheezing. She was on regular medication for bronchial asthma for 18 years. There was no history of foreign body aspiration or loss of consciousness. Her chest radiograph was normal. She showed poor response to corticosteroids and bronchodilators. Fibreoptic bronchoscopy (FOB showed intracordal cyst of the left vocal cord and 1cm size irregular piece of betel nut in right main bronchus, which was removed endoscopically with the help of dormia basket, following which her condition improved and asthma was controlled on inhaled bronchodilators.

  16. Religiosity and Migration Aspirations among Mexican Youth.

    Science.gov (United States)

    Hoffman, Steven; Marsiglia, Flavio Francisco; Ayers, Stephanie L

    2015-02-01

    International migration has become an important topic of discussion from a policy and humanitarian perspective. Part of the debate includes a renewed interest in understanding the factors that influence decisions about migration to the US among Mexican youth still residing in their country of origin. The purpose of this study was to advance knowledge specifically about internal and external religiosity and their influence on youths' migration aspirations. The data for this study were collected in 2007 from students enrolled in an alternative high school program located in the state of Guanajuato, Mexico. The findings indicated that as external religiosity increases, the desire to work or live in the USA decreases. Furthermore, as internal religiosity increases, the desire to work or live in the USA and plans to migrate increase. The results are interpreted and discussed in light of previous research on religious and cultural norm adherence.

  17. Gender contentedness in aspirations to become engineers or medical doctors

    Science.gov (United States)

    Koul, Ravinder; Lerdpornkulrat, Thanita; Poondej, Chanut

    2017-11-01

    Medical doctor and engineer are highly esteemed STEM professions. This study investigates academic and motivational characteristics of a sample of high school students in Thailand who aspire to become medical doctors or engineers. We used logistic regression to compare maths performance, gender typicality, gender contentedness, and maths and physics self-concepts among students with aspirations for these two professions. We found that high levels of felt gender contentedness in men had positive association with aspirations for engineering irrespective of the levels of maths or physics self-concept. We found that high levels of felt gender contentedness combined with high levels of maths or physics self-concept in women had positive associations with aspirations to become a medical doctor. These findings are evidence that student views of self are associated with uneven gendered patterns in career aspirations and have implications for the potential for future participation.

  18. Aspiration lung disorders in bovines: A case report and review

    Directory of Open Access Journals (Sweden)

    Anthony S. Shakespeare

    2012-04-01

    Full Text Available Lung aspiration disorders in bovines are invariably diagnosed as infectious aspiration pneumonias. There is a distinct differentiation between aspiration pneumonia and aspiration pneumonitis in humans that can be applied to bovines. The nature and quantity of the aspirate can result in differing pathogeneses which can require differing therapeutic approaches. Whilst blood gases were important in detecting and prognosticating lung problems, changes in barometric pressure with altitude have to be considered when interpreting partial pressures of oxygen. Anatomical differences in the lungs of bovines can explain why this species is more prone to certain pneumonic problems. Pulmonary physiotherapy is important in treating lung disorders in humans and should be considered as an adjunct therapy in bovine respiratory conditions. A case work-up was used to highlight some of the points discussed in this article.

  19. Aspiration lung disorders in bovines: A case report and review

    Directory of Open Access Journals (Sweden)

    Anthony S. Shakespeare

    2012-11-01

    Full Text Available Lung aspiration disorders in bovines are invariably diagnosed as infectious aspiration pneumonias. There is a distinct differentiation between aspiration pneumonia and aspiration pneumonitis in humans that can be applied to bovines. The nature and quantity of the aspirate can result in differing pathogeneses which can require differing therapeutic approaches. Whilst blood gases were important in detecting and prognosticating lung problems, changes in barometric pressure with altitude have to be considered when interpreting partial pressures of oxygen. Anatomical differences in the lungs of bovines can explain why this species is more prone to certain pneumonic problems. Pulmonary physiotherapy is important in treating lung disorders in humans and should be considered as an adjunct therapy in bovine respiratory conditions. A case work-up was used to highlight some of the points discussed in this article.

  20. Comparison of cough reflex test against instrumental assessment of aspiration.

    Science.gov (United States)

    Miles, Anna; Moore, Sara; McFarlane, Mary; Lee, Fiona; Allen, Jacqueline; Huckabee, Maggie-Lee

    2013-06-13

    Silent aspiration is associated with pneumonia and mortality, and is poorly identified by traditional clinical swallowing evaluation (CSE). The aim of this study was to validate cough reflex testing (CRT) for identification of silent aspiration against aspiration confirmed by instrumental assessment. Cough reflex threshold testing was completed on all patients using inhaled, nebulised citric acid. Within an hour, 80 patients underwent videofluoroscopic study of swallowing (VFSS) and 101 patients underwent fibreoptic endoscopic evaluation of swallowing (FEES). All tests were recorded and analysed by two researchers blinded to the result of the alternate test. Significant associations between CRT result and cough response to aspiration on VFSS (X(2) (2)=11.046, p=.003) and FEES (X(2) (2)=34.079, pacid provide a better predictive measure of silent aspiration. Copyright © 2013 Elsevier Inc. All rights reserved.

  1. Aspiration lung disorders in bovines: a case report and review.

    Science.gov (United States)

    Shakespeare, Anthony S

    2012-11-01

    Lung aspiration disorders in bovines are invariably diagnosed as infectious aspiration pneumonias. There is a distinct differentiation between aspiration pneumonia and aspiration pneumonitis in humans that can be applied to bovines. The nature and quantity of the aspirate can result in differing pathogeneses which can require differing therapeutic approaches. Whilst blood gases were important in detecting and prognosticating lung problems, changes in barometric pressure with altitude have to be considered when interpreting partial pressures of oxygen. Anatomical differences in the lungs of bovines can explain why this species is more prone to certain pneumonic problems. Pulmonary physiotherapy is important in treating lung disorders in humans and should be considered as an adjunct therapy in bovine respiratory conditions. A case work-up was used to highlight some of the points discussed in this article.

  2. Due diligence

    International Nuclear Information System (INIS)

    Sanghera, G.S.

    1999-01-01

    The Occupational Health and Safety (OHS) Act requires that every employer shall ensure the health and safety of workers in the workplace. Issues regarding the practices at workplaces and how they should reflect the standards of due diligence were discussed. Due diligence was described as being the need for employers to identify hazards in the workplace and to take active steps to prevent workers from potentially dangerous incidents. The paper discussed various aspects of due diligence including policy, training, procedures, measurement and enforcement. The consequences of contravening the OHS Act were also described

  3. Application of the Virtual Bronchoscopy in Children with Suspected Aspiration of the Foreign Body - Case Report

    Directory of Open Access Journals (Sweden)

    Kostic Gordana

    2016-12-01

    Full Text Available In diagnosing the aspiration of the foreign body (AFB in children most important are: medical history, clinical signs and positive radiography of the lungs. Common dilemmas in the diff erential diagnosis are life-threatening asthma attacks or difficult pneumonia. Conventional rigid bronchoscopy (RB is not recommended as a routine method. Virtual bronchoscopy (VB can be a diagnostic tool for solving dilemmas. Fiber-optic bronchoscopy (FOB has a therapeutic stake in severe cases. Herein, we describe a girl, at the age of 6, who was hospitalized due to rapid bronchoconstriction and based on the anamnesis, clinical symptoms and physical fi ndings the suspicion was that she aspirated the foreign body. Due to the poor general condition and possible sequel, the idea of RB was dropped out. Multidetector computed tomography of the chest and VB was performed and AFB was not found. Due to positive epidemiological situation, virus H1N1 was excluded. FOB established that the foreign body does not exist in the airways. During bronchoscopy numerous castings are aspirated from the peripheral airways which lead to faster final recovery. With additional procedures, the diagnosis of asthma was confirmed and for girl that was the first attack. Along with inhaled corticosteroids as prevention she feels well.

  4. Systematic study of alginate-based microcapsules by micropipette aspiration and confocal fluorescence microscopy.

    Science.gov (United States)

    Kleinberger, Rachelle M; Burke, Nicholas A D; Dalnoki-Veress, Kari; Stöver, Harald D H

    2013-10-01

    Micropipette aspiration and confocal fluorescence microscopy were used to study the structure and mechanical properties of calcium alginate hydrogel beads (A beads), as well as A beads that were additionally coated with poly-L-lysine (P) and sodium alginate (A) to form, respectively, AP and APA hydrogels. A beads were found to continue curing for up to 500 h during storage in saline, due to residual calcium chloride carried over from the gelling bath. In subsequent saline washes, micropipette aspiration proved to be a sensitive indicator of gel weakening and calcium loss. Aspiration tests were used to compare capsule stiffness before and after citrate extraction of calcium. They showed that the initial gel strength is largely due to the calcium alginate gel cores, while the long term strength is solely due to the poly-L-lysine-alginate polyelectrolyte complex (PEC) shells. Confocal fluorescence microscopy showed that calcium chloride exposure after PLL deposition led to PLL redistribution into the hydrogel bead, resulting in thicker but more diffuse and weaker PEC shells. Adding a final alginate coating to form APA capsules did not significantly change the PEC membrane thickness and stiffness, but did speed the loss of calcium from the bead core. © 2013.

  5. Histopathological features of aspirated thrombi after primary percutaneous coronary intervention in patients with ST-elevation myocardial infarction.

    Directory of Open Access Journals (Sweden)

    Miranda C Kramer

    Full Text Available BACKGROUND: Plaque disruption with superimposed thrombus is the predominant mechanism responsible for the onset of acute coronary syndromes. Studies have shown that plaque disruption and thrombotic occlusion are frequently separated in time. We established the histopathological characteristics of material aspirated during primary percutaneous coronary intervention (PCI in a large consecutive ST-elevation myocardial infarction (STEMI population. METHODOLOGY/PRINCIPAL FINDINGS: Thrombus aspiration during primary PCI was performed in 1,362 STEMI patients. Thrombus age was classified as fresh (5 day. Further, the presence of plaque was documented. The histopathological findings were related to the clinical, angiographic, and procedural characteristics. Material could be aspirated in 1,009 patients (74%. Components of plaque were found in 395 of these patients (39%. Fresh thrombus was found in 577 of 959 patients (60% compared to 382 patients (40% with lytic or organized thrombi. Distal embolization was present in 21% of patients with lytic thrombus compared to 12% and 15% of patients with fresh or organized thrombus. CONCLUSIONS/SIGNIFICANCE: Material could be obtained in 74% of STEMI patients treated with thrombus aspiration during primary PCI. In 40% of patients thrombus age is older than 24 h, indicating that plaque disruption and thrombus formation occur significantly earlier than the onset of symptoms in many patients.

  6. What the physician needs to know about Lynch syndrome: an update.

    Science.gov (United States)

    Lynch, Henry T; Lynch, Jane F

    2005-04-01

    The Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]), is the most common form of hereditary colorectal cancer (CRC), accounting for 2% to 7% of all CRC cases. The next most common hereditary CRC syndrome is familial adenomatous polyposis (FAP), which accounts for less than 1% of all CRC. Lynch syndrome is of crucial clinical importance due to the fact that it predicts the lifetime risk for CRC and a litany of extra-CRC cancers (of the endometrium, ovary, stomach, small bowel, hepatobiliary tract, upper uroepithelial tract, and brain) through assessment of a well-orchestrated family history. A Lynch syndrome diagnosis is almost certain when a mutation in a mismatch repair gene--most commonly MSH2, MLHI, or, to a lesser degree, MSH6--is identified. Once diagnosed, the potential for significant reduction in cancer-related morbidity and mortality through highly targeted surveillance may be profound. Particularly important is colonoscopy initiated at an early age (ie, 25 years) and repeated annually due to accelerated carcinogenesis. In women, endometrial aspiration biopsy and transvaginal ultrasound are important given the extraordinarily high risk for endometrial and ovarian carcinoma. These cancer control strategies have a major impact on at-risk family members once they have been counseled and educated thoroughly about Lynch syndrome's natural history and their own hereditary cancer risk.

  7. Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father.

    Science.gov (United States)

    Loupe, Jacob; Sampath, Srirangan; Lacassie, Yves

    2014-10-01

    We report an African-American family that was identified after the proposita was referred for diagnostic evaluation at 4½ months with a history of Hirschsprung and dysmorphic features typical of Waardenburg syndrome (WS). Family evaluation revealed that the father had heterochromidia irides and hypertelorism supporting the clinical diagnosis of WS; however, examination of the mother revealed characteristic facial and digital features of Coffin-Lowry syndrome (CLS). Molecular testing of the mother identified a novel 2 bp deletion (c.865_866delCA) in codon 289 of RPS6KA3 leading to a frame-shift and premature termination of translation 5 codons downstream (NM_004586.2:p.Gln289ValfsX5). This deletion also was identified in the proposita and her three sisters with a clinical suspicion of CLS, all of whom as carriers for this X-linked disorder had very subtle manifestations. The molecular confirmation of WS type 4 (Shah-Waardenburg; WS4) was not as straightforward. To evaluate WS types 1-4, multiple sequential molecular tests were requested, including Sanger sequencing of all exons, and deletion/duplication analysis using MLPA for PAX3, MITF, SOX10, EDN3 and EDNRB. Although sequencing did not identify any disease causing variants, MLPA identified a heterozygous deletion of the entire EDNRB in the father. This deletion was also found in the proposita and the oldest child. Since the heterozygous deletion was the only change identified in EDNRB, this family represents one of the few cases of an autosomal dominant inheritance of WS4 involving the endothelin pathway. Altogether, clinical evaluation of the family revealed one child to be positive for WS4 and two positive for CLS, while two children were positive for both diseases simultaneously (including the proposita) while another pair test negative for either disease. This kinship is an example of the coincidence of two conditions co-segregating in one family, with variable phenotypes requiring molecular testing to

  8. Pre-hospital aspiration is associated with increased pulmonary complications.

    Science.gov (United States)

    Fawcett, Vanessa J; Warner, Keir J; Cuschieri, Joseph; Copass, Michael; Grabinsky, Andreas; Kwok, Heemun; Rea, Thomas; Evans, Heather L

    2015-04-01

    Rates of ventilator-associated pneumonia (VAP) are highest among patients intubated on an emergency basis following trauma. We reported previously a retrospective analysis demonstrating an association between subjective aspiration and VAP after pre-hospital intubation. We hypothesize that by directing paramedics to note features of aspiration at intubation, we will confirm prospectively the association between pre-hospital aspiration and subsequent pneumonia in trauma patients. Paramedics collected data regarding aspiration at the time of intubation. All intubated patients admitted to a level 1 trauma center intensive care unit (ICU) were included. Data comprised a clinical impression of pre-hospital aspiration, as well as the presence and timing of blood and emesis in the airway. Injury severity, co-morbidities, and outcomes were collected from the trauma registry. Healthcare-associated pneumonia (HAP) was identified by medical record review of both bronchoalveolar lavage culture results and discharge diagnosis. Descriptive statistics and univariate analysis of outcomes by aspiration status, as well as covariable adjustment using propensity scores, were performed. Of the 228 patients, 89 (39%) were determined by paramedics to have aspirated. The majority of those who aspirated (84 [94%]) did so prior to intubation. Patients who aspirated had higher Injury Severity Scores than those who did not aspirate (25.0 ± 1.7 vs. 21.9 ± 1.5 points; p=0.04) and lower preintubation Glasgow Coma Scale scores (8.2 ± 0.50 vs. 9.6 ± 0.40; p=0.02). Of the 89 patients who aspirated around the time of intubation, 14 (16%) developed HAP vs. five (3.6%) of those who did not aspirate (paspiration (deaths: 21 [23.6%] vs. 23 [16.6%]; p=0.19; ICU LOS: 5.3 ± 0.9 vs. 4.1 ± 0.5 days; p=0.13; duration of mechanical ventilation: 5.3 ± 1.2 vs. 3.2 ± 0.5 days; p=0.10). Aspiration prior to intubation was reported commonly by paramedics and was associated with a higher risk of HAP.

  9. Peroneal nerve palsy due to compartment syndrome after facial plastic surgery Paralisia de nervo fibular devido a síndrome compartimental após cirurgia plástica da face

    Directory of Open Access Journals (Sweden)

    Clécio O. Godeiro-Júnior

    2007-09-01

    Full Text Available A 25-year-old white man, right after bilateral rhytidoplasty, presented with agitation, necessiting use of haloperidol. Some hours after, he developed severe pain in his legs and a diagnosis of neuroleptic malignant syndrome (NMS was considered. Even with treatment for NMS he still complained of pain. A diagnosis of lower limb compartment syndrome (CS was done only 12 hours after the initial event, being submitted to fasciotomy in both legs, disclosing very pale muscles, due to previous ischemia. This syndrome was not explained only by facial surgery, his position and duration of the procedure. It can be explained by a sequence of events. He had a history of pain in his legs during physical exercises, usually seen in chronic compartment syndrome. He used to take anabolizant and venlafaxine, not previously related, and the agitation could be related to serotoninergic syndrome caused by interaction between venlafaxine and haloperidol. Rhabdomyolisis could lead to oedema and ischmemia in both anterior leg compartment. This report highlights the importance of early diagnosis of compartment syndrome, otherwise, even after fasciotomy, a permanent disability secondary to peripheral nerve compression could occur.Logo após ritidoplastia bilateral, um jovem de 25 anos apresentou agitação, necessitando uso de haloperidol. Algumas horas após, desenvolveu dor intensa em membros inferiores, e o diagnóstico de síndrome neuroléptica maligna foi considerado. Mesmo com o tratamento para tal, persistiu com dor. Após 12 horas do início do quadro, foi realizado o diagnóstico de síndrome compartimental de membros inferiores e o jovem foi submetido a fasciotomia bilateral. Uma seqüência de eventos desencadeou esta síndrome, já que sua ocorrência dificilmente seria justificada pela cirurgia facial e/ou posição do paciente durante o procedimento. O jovem apresentava previamente dor em membros inferiores aos exercícios, sugerindo a ocorrência de uma s

  10. Sildenafil prevents the increase of extravascular lung water and pulmonary hypertension after meconium aspiration in newborn piglets.

    Science.gov (United States)

    Silvera, F E; Blasina, M F; Vaamonde, L; Tellechea, S; Godoy, C; Zabala, S; Mañana, G; Martell, M; Olivera, W

    2011-08-01

    Meconium aspiration syndrome causes respiratory failure after birth and in vivo monitoring of pulmonary edema is difficult. The objective of the present study was to assess hemodynamic changes and edema measured by transcardiopulmonary thermodilution in low weight newborn piglets. Additionally, the effect of early administration of sildenafil (2 mg/kg vo, 30 min after meconium aspiration) on this critical parameter was determined in the meconium aspiration syndrome model. Thirty-eight mechanically ventilated anesthetized male piglets (Sus scrofa domestica) aged 12 to 72 h (1660 ± 192 g) received diluted fresh human meconium in the airway in order to evoke pulmonary hypertension (PHT). Extravascular lung water was measured in vivo with a PiCCO monitor and ex vivo by the gravimetric method, resulting in an overestimate of 3.5 ± 2.3 mL compared to the first measurement. A significant PHT of 15 Torr above basal pressure was observed, similar to that of severely affected humans, leading to an increase in ventilatory support. The vascular permeability index increased 57%, suggesting altered alveolocapillary membrane permeability. Histology revealed tissue vessel congestion and nonspecific chemical pneumonitis. A group of animals received sildenafil, which prevented the development of PHT and lung edema, as evaluated by in vivo monitoring. In summary, the transcardiopulmonary thermodilution method is a reliable tool for monitoring critical newborn changes, offering the opportunity to experimentally explore putative therapeutics in vivo. Sildenafil could be employed to prevent PHT and edema if used in the first stages of development of the disease.

  11. Aspiration in children and adolescents with neurogenic dysphagia: comparison of clinical judgment and fiberoptic endoscopic evaluation of swallowing.

    Science.gov (United States)

    Beer, Sabrina; Hartlieb, Till; Müller, Arnd; Granel, Michael; Staudt, Martin

    2014-12-01

    A total of 30 children and adolescents with dysphagia due to various chronic neurological disorders were assessed for their risk of aspiration. This assessment was performed clinically by experienced speech and swallowing therapists, and verified thereafter by fiberoptic endoscopy. We found the clinical judgment to be correct in only 70% (for aspiration of saliva), 55% (of puree), and 67% (of thin liquids). We conclude that, because of this unacceptably high error rate of clinical assessment, a fiberoptic evaluation of swallowing is a necessary diagnostic step both for the planning of therapy and for the development of feeding strategies in children and adolescents with neurogenic dysphagia. Georg Thieme Verlag KG Stuttgart · New York.

  12. Clinical Presentation Of The Abuse Of Insulin: Hypoglycaemic Coma And Aspiration Pneumonia In Non-Professional Bodybuilders

    Directory of Open Access Journals (Sweden)

    Petrovic Ivica

    2015-12-01

    Full Text Available The use of medications that improve the physical performance of an individual represents a very serious worldwide health problem. The abuse of these medications is increasing. Herein, we describe a patient, at the age of 20, who was hospitalized due to loss of consciousness and difficulty breathing. At admission, the patient was unconsciousness, tahi-dyspnoic, and had a pale complexion and an athletic build. In gas analyses, extremely low saturation was observed, followed by acidosis, heavy hypoxia with normocapnia, higher lactates, hypocalcaemia and severe hypoglycaemia. The patient was treated with a hypertonic solution of glucose and intubated, with the aspiration of sanious content from the respiratory tract. After treatment, the patient woke from coma but was very confused. In the first 6 hours of hospitalization, severe hypoglycaemia occurred several times, despite the continuous administration of glucose. Due to the growth of inflammatory syndrome since the first day of hospitalization, the patient was kept in the hospital for treatment along with the administration of antibiotic treatment. On the fourth day of hospitalization, the patient stated that for the last year, he had been taking testosterone at a dose of 1 g a week, as well as tamoxifen pills and 15 i.j. of fast-acting human insulin (Actrapid® daily for their combined anabolic effect. Hypoglycaemic coma, caused by the abuse of insulin, represents a severe complication in patients, which can be followed by confusion, a slowed thinking process, the weakening of cognitive functions and even death. It is necessary to invest great efforts into the prevention of the purchase of these medications via the Internet or on the black market for purposes of abuse in order to prevent such serious and life-threatening complications.

  13. Eagle syndrome

    International Nuclear Information System (INIS)

    Raina, Deepika; Gothi, Rajesh; Rajan, Sriram

    2009-01-01

    Eagle syndrome occurs due to elongation of the styloid process or calcification of the stylohyoid ligament, which then may produce a pain sensation due the pressure exerted on various structures in the head and neck. When suspected, imaging helps in identifying the abnormally elongated styloid process or the calcified ligament. In recent years, three-dimensional CT (3DCT) has proved to be valuable in these cases. We report the case of a 62-year-old man with this syndrome in whom imaging with 3DCT conclusively established the diagnosis

  14. How useful is gastroesophageal reflux scintigraphy in suspected childhood aspiration?

    International Nuclear Information System (INIS)

    Fawcett, H.D.; Adams, J.C.; Hayden, C.K.; Swischuk, L.E.

    1988-01-01

    It has been suggested that gastroesophageal reflux scintigraphy might be useful in assisting one in determining therapy for patients suspected of aspirating or becoming apneic secondary to gastroesophageal reflux. This, however, has not been our experience and in reviewing 23 patients with recurrent pneumonia and/or apnea who had gastroesophageal reflux scintigraphy, we were able to detect aspiration in only one. This was especially significant since 13 (59%) of these patients had demonstrable reflux, and of these, eight were treated successfully for suspected aspiration even though none was demonstrated isotopically. To be sure, the demonstration of pulmonary aspiration with gastroesophageal reflux scintigraphy had little influence on patient selection and response to therapy. For this reason we feel there is little justification in depending on the GRS for the specific purpose of trying to document pulmonary aspiration in infants and children who are refluxing. One of the more serious complications of gastroesophageal (GE) reflux is aspiration leading to recurrent pulmonary infections and/or apnea. However, it always has been difficult to demonstrate actual aspiration into the lungs, and to be sure, barium studies of the upper GI tract seldom reveal this complication. Recently, however, considerable interest has been generated in gastroesophageal scintigraphy (GRS) as a possible means of documenting such aspiration. Rationale for this stems from the fact that suspected patients can be studied over a longer period of time and in addition, delayed and overnight images can be obtained. However, our experience does not support GRS as being an adequate method for demonstrating aspiration. (orig.)

  15. Cushing's syndrome during pregnancy

    NARCIS (Netherlands)

    Mulder, W. J.; Berghout, A.; Wiersinga, W. M.

    1990-01-01

    Two cases of Cushing's syndrome during pregnancy are reported, both due to an adrenal adenoma. The association of pregnancy and Cushing's syndrome has up to now been described in 48 patients (including our two cases); Cushing's syndrome was ACTH-independent in 59%, ACTH-dependent in 33%, and of

  16. Gastric Dilatation and Abdominal Compartment Syndrome in a Child with Prader-Willi Syndrome.

    Science.gov (United States)

    Blat, Clara; Busquets, Elisenda; Gili, Teresa; Caixàs, Assumpta; Gabau, Elisabeth; Corripio, Raquel

    2017-06-07

    BACKGROUND Prader-Willi syndrome (PWS) is a genetic disorder characterized by initial muscular hypotonia and feeding difficulties, and later an insatiable appetite, hyperphagia and obesity along with mild to moderate intellectual impairment. Affected individuals' food-seeking behavior and suspected delayed gastric emptying can lead to gastric dilatation with subsequent necrosis and perforation. CASE REPORT We present the case of a 5-year-old boy diagnosed with Prader-Willi syndrome at neonatal age due to muscular hypotonia, who started growth hormone therapy at 20 months. He presented with two episodes of a rapidly progressing gastric dilatation that led to abdominal hypertension and secondary shock at the age of 2 and 5. No large amount of food was eaten before any of the episodes, and he had abdominal pain and vomiting on both occasions. On arrival at the emergency room, a nasogastric tube was placed and aspiration of food material was performed. Abdominal X-ray and CT scan revealed massive gastric dilatation. He was admitted at the Pediatric Intensive Care Unit and after a variable period of fasting, tolerated oral intake and could be discharged. CONCLUSIONS Gastric dilatation due to gastroparesis in PWS is a rare complication. However, it is a life-threatening situation and physicians should therefore maintain a high level of suspicion for gastric dilatation when patients present with warning symptoms such as abdominal pain or discomfort and vomiting.

  17. Aspiring to physical health: the role of aspirations for physical health in facilitating long-term tobacco abstinence.

    Science.gov (United States)

    Niemiec, Christopher P; Ryan, Richard M; Deci, Edward L; Williams, Geoffrey C

    2009-02-01

    To assess aspirations for physical health over 18 months. To examine whether maintained importance of aspirations for physical health mediated and/or moderated the effect of an intensive intervention on long-term tobacco abstinence. Participants were randomly assigned to an intervention based on self-determination theory or to community care, and provided data at baseline and at 18 and 30 months post-randomization. Aspirations for physical health were better maintained over 18 months among participants in the intervention (mean change=.05), relative to community care (mean change=-.13), t=2.66, p<.01. Maintained importance of aspirations for physical health partially mediated the treatment condition effects on seven-day point prevalence tobacco abstinence (z'=1.68, p<.01) and the longest number of days not smoking (z'=2.16, p<.01), and interacted with treatment condition to facilitate the longest number of days not smoking (beta=.08, p<.05). Maintained importance of aspirations for physical health facilitated tobacco abstinence. Smokers may benefit from discussing aspirations for physical health within autonomy-supportive interventions. Patients may benefit from discussing aspirations during counseling about therapeutic lifestyle change and medication use.

  18. Fine needle aspiration cytology of dermal cylindroma

    Directory of Open Access Journals (Sweden)

    Parikshaa Gupta

    2014-01-01

    Full Text Available In this paper, we have described fine needle aspiration cytology (FNAC of a rare case of dermal cylindroma. A 40-year-old female presented with a lateral mid-cervical swelling fixed to the skin. FNAC smears showed multiple clusters of small, round to oval cells with hyperchromatic nuclei, inconspicuous nucleoli and scant cytoplasm. In addition, the background showed deposits of basement membrane type material. This was dark magenta colored pinkish globular material. The globules were occasionally surrounded by the basal type of cells. Occasional cells with elongated nuclei were also noted. Cytological diagnosis of skin adnexal tumor possibly cylindroma was offered. Subsequent histopathology of the swelling showed sheets and clusters of cells in a jigsaw puzzle-like fashion. Deposition of abundant basement membrane-like material was noted in between the tumor cells. A diagnosis of cylindorma was offered. FNAC along with the subcutaneous location of the tumor and absence of primary salivary gland tumor may help to diagnose such rare case.

  19. Fine needle aspiration cytology in leprosy

    Directory of Open Access Journals (Sweden)

    Prasad PVS

    2008-01-01

    Full Text Available Background: Laboratory diagnosis of leprosy by slit skin smear and skin biopsy is simple but both techniques have their own limitations. Slit skin smear is negative in paucibacillary cases whereas skin biopsy is an invasive technique. Fine needle aspiration cytology (FNAC from skin lesions in leprosy with subsequent staining with May-Grunwald-Giemsa (MGG stain has been found useful. Aim: To evaluate the possible role of cytology in classifying leprosy patients. Methods: Seventy-five untreated cases of leprosy attending the outpatient department were evaluated. Smears were taken from their skin lesions and stained using the MGG technique. Skin biopsy was also done from the lesions, which was compared with cytology smears. Results: A correlation of clinical features with FNAC was noticed in 87.5% of TT, 92.1% of BT, 81% of BL, and 66% of LL cases. Correlation of clinical with histopathological diagnoses revealed 12.5% specificity in TT leprosy, 55.3% in BT, 52.4% in BL and 50% in LL, and 100% in neuritic and histoid leprosy cases. Both correlations were found to be statistically significant by paired t test analysis. Thus, it was possible to distinguish the tuberculoid types by the presence of epithelioid cells and the lepromatous types by the presence of lymphocytes and foamy macrophages. Conclusion: FNAC may be used to categorize the patients into paucibacillary and multibacillary types, but is not a very sensitive tool to classify the patients across the Ridley-Jopling spectrum.

  20. A Bone Marrow Aspirate and Trephine Simulator.

    Science.gov (United States)

    Yap, Eng Soo; Koh, Pei Lin; Ng, Chin Hin; de Mel, Sanjay; Chee, Yen Lin

    2015-08-01

    Bone marrow aspirate and trephine (BMAT) biopsy is a commonly performed procedure in hematology-oncology practice. Although complications are uncommon, they can cause significant morbidity and mortality. Simulation models are an excellent tool to teach novice doctors basic procedural skills before performing the actual procedure on patients to improve patient safety and well-being. There are no commercial BMAT simulators, and this technical report describes the rationale, technical specifications, and construction of a low-cost, easily constructed, reusable BMAT simulator that reproduced the tactile properties of tissue layers for use as a teaching tool in our resident BMAT simulation course. Preliminary data of learner responses to the simulator were also collected. From April 2013 to November 2013, 32 internal medicine residents underwent the BMAT simulation course. Eighteen (56%) completed the online survey, 11 residents with previous experience doing BMAT and 7 without experience. Despite the difference in operative experience, both experienced and novice residents all agreed or strongly agreed that the model aided their understanding of the BMAT procedure. All agreed or strongly agreed that this enhanced their knowledge of anatomy and 16 residents (89%) agreed or strongly agreed that this model was a realistic simulator. We present a novel, low-cost, easily constructed, realistic BMAT simulator for training novice doctors to perform BMAT.

  1. Comparative study of aspiration and non-aspiration cytology of palpable breast lumps and correlation with histopathology

    Directory of Open Access Journals (Sweden)

    S Koirala

    2014-09-01

    Full Text Available Background: Breast lump is one of the most common presentations in surgical outpatient departments with anxiety regarding a possible malignancy. Hence a quick diagnosis of a lump in the breast is essential. Fine needle aspiration cytology is an ideal initial diagnostic modality in breast lumps. There is an alternative method of performing needle aspiration, known as fine needle capillary cytology where the specimen is obtained using just a needle without aspiration.Materials and Methods: This hospital-based cross sectional analytical study was carried out in Department of Pathology in National Academy of Medical Sciences, Bir Hospital for one year. The objective of this study was to compare aspiration and non-aspiration cytology of palpable breast lumps and correlation with histopathology.Results: The five criteria scored for each technique were background blood, amount of cellular material, cellular degeneration, cellular trauma and architectural preservation. Compared to fine needle aspiration cytology, fine needle capillary cytology yields less bloody smears with minimal degenerative changes and offers more diagnostically superior specimens. Fine needle aspiration cytology, on the other hand, gives a good yield of diagnostic material.Conclusion: Fine needle aspiration cytology and fine needle capillary cytology are quick, easy, safe and cost-effective techniques. . A high sensitivity and specificity of cytological diagnosis in this study proves that it is comparable to final histology report in its diagnostic efficiency. Thus, fine needle aspiration cytology is a very important preliminary diagnostic test in palpable breast lumps and the results show a high degree of correlation with the final histopathology report.DOI: http://dx.doi.org/10.3126/jpn.v4i8.11501 Journal of Pathology of Nepal; Vol.4,No. 8 (2014 639-643

  2. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  3. Transvaginal Ultrasound-Guided Aspiration of Pelvic Abscesses

    Directory of Open Access Journals (Sweden)

    P. J. Corsi

    1999-01-01

    Full Text Available Objective: To assess the utility of a less invasive approach to the care of women with a pelvic abscess, we retrospectively reviewed the outcome of women with pelvic abscesses managed by transvaginal ultrasound-guided aspiration.

  4. Aspirations of young people living in disadvantaged areas in Denmark

    DEFF Research Database (Denmark)

    Frørup, Anna Kathrine; Jensen, Niels Rosendal

    2017-01-01

    how young people's (living in a socially disadvantaged area) possibilities, aspirations and demands are raised, strengthened, transformed or put aside and in what way they feel participating within different local programmes....

  5. Farm practical training and job aspiration of undergraduates of ...

    African Journals Online (AJOL)

    Journal of Agricultural Extension ... The study investigated whether farm practical training (FPT) is significantly associated with job aspiration ... students comparing results of empirical evidence between two Universities in Kwara State, Nigeria.

  6. Micronuclei in breast aspirates. Is scoring them helpful?

    Directory of Open Access Journals (Sweden)

    A Hemalatha

    2014-01-01

    Conclusion: An increase in micronuclei values was seen from fibroadenoma to infiltrating ductal carcinoma. Micronuclei scoring can be used as a biomarker on fine needle aspiration cytology smears of breast carcinoma.

  7. Intravenous flurbiprofen axetil can stabilize the hemodynamic instability due to mesenteric traction syndrome--evaluation with continuous measurement of the systemic vascular resistance index using a FloTrac® sensor.

    Science.gov (United States)

    Takada, Motoshi; Taruishi, Chieko; Sudani, Tomoko; Suzuki, Akira; Iida, Hiroki

    2013-08-01

    Evaluation of the stabilizing effect of intravenous flurbiprofen axetil against hemodynamic instability due to mesenteric traction syndrome (MTS) by continuous measurement of systemic vascular resistance index (SVRI) using a FloTrac(®) sensor was evaluated. Prospective randomized trial. A single-center study performed in an educational hospital. Two prospective studies were carried out, each with 40 patients scheduled for elective open abdominal surgery. Twenty patients received 50 mg of flurbiprofen axetil after the recognition of MTS by the anesthesiologist (group FT). The remaining patients served as controls (groups CP and CT). SVRI data was collected every 20 seconds for 1 hour after starting the laparotomy. The average SVRI prior to skin incision was taken as the baseline. Following 3 values were devised to evaluate MTS: the S-value (sum total of changes in SVRI from baseline), the T-value (period during which SVRI remained 20% or more below baseline), and the M-value (maximum change in SVRI from baseline). In group FP, decrease in SVRI was smaller than in group CP, and statistical differences in the 3 values were found. In group FT, SVRI recovered earlier than in group CT, and statistical differences were found in S-value and T-value. However, the M-value had no statistical differences. Intravenous flurbiprofen axetil can stabilize the hemodynamic instability due to MTS. Copyright © 2013 Elsevier Inc. All rights reserved.

  8. The clinical features of foreign body aspiration into the lower airway in geriatric patients

    Directory of Open Access Journals (Sweden)

    Lin LJ

    2014-09-01

    Full Text Available Lianjun Lin,1 Liping Lv,2,* Yuchuan Wang,1 Xiankui Zha,2 Fei Tang,2 Xinmin Liu1,* 1Geriatric Department, Peking University First Hospital, Beijing, People’s Republic of China; 2Pulmonary Intervention Department, Anhui Chest Hospital, Hefei, People’s Republic of China *These authors contributed equally to this work Purpose: To analyze the clinical features of foreign-body aspiration into the lower airway in geriatric patients. Patients and methods: The clinical data of 17 geriatric patients with foreign-body aspiration were retrospectively analyzed and compared with 26 nongeriatric adult patients. The data were collected from Peking University First Hospital and Anhui Chest Hospital between January 2000 and June 2014.Results: (1 In the geriatric group, the most common symptoms were cough and sputum (15 cases, 88%, dyspnea (six cases, 35%, and hemoptysis (four cases, 24%. Five patients (29% in the geriatric group could supply the history of aspiration on their first visit to doctor, a smaller percentage than in the nongeriatric group (13 cases, 50%. Only three cases in the geriatric group were diagnosed definitely without delay. Another 14 cases were misdiagnosed as pneumonia or lung cancer, and the time of delayed diagnosis ranged from 1 month to 3 years. Complications due to delay in diagnosis included obstructive pneumonitis, atelectasis, lung abscess, and pleural effusion. (2 Chest computed tomography demonstrated the foreign body in three cases (21% in the geriatric group, which was lower than the positive proportion of detection in the nongeriatric group (nine cases, 35%. The most common type of foreign body in the geriatric group was food, such as bone fragments (seven cases, 41% and plants (seven cases, 41%, and the foreign body was most often lodged in the right bronchus tree (eleven cases, 65%, especially the right lower bronchus (seven cases, 41%. Flexible bronchoscopy removed the foreign body successfully in all patients

  9. Travel experiences and aspirations: a case study from Chinese youth

    OpenAIRE

    Xu, Feifei; Brown, Lorraine; Long, Philip

    2016-01-01

    Understanding cultural values is vital in tourism as these influence an individual’s travel experiences and expectations. Students represent an important segment of the international tourist population, and Chinese student tourists are an increasingly significant part of that segment. It is therefore important to understand how cultural values influence Chinese students’experiences and aspirations. Will their past travel experiences influence future aspirations? Using data collected from a fr...

  10. How and when Do Educational Aspirations, Expectations and Achievement Align?

    OpenAIRE

    Nabil Khattab

    2014-01-01

    This paper proposes a new typology of educational aspirations, expectations and achievement. This typology is derived from combinations of aspirations, expectations and achievement, creating eight possible combinations of aligned and irregular profiles. To devise this new typology, data from the Longitudinal Study of Young People in England (LSYPE) panel survey and matching administrative data from the National Pupil Database (NPD) was utilised. These data were collected in 2004 from a sample...

  11. Aspiration dynamics of multi-player games in finite populations.

    Science.gov (United States)

    Du, Jinming; Wu, Bin; Altrock, Philipp M; Wang, Long

    2014-05-06

    On studying strategy update rules in the framework of evolutionary game theory, one can differentiate between imitation processes and aspiration-driven dynamics. In the former case, individuals imitate the strategy of a more successful peer. In the latter case, individuals adjust their strategies based on a comparison of their pay-offs from the evolutionary game to a value they aspire, called the level of aspiration. Unlike imitation processes of pairwise comparison, aspiration-driven updates do not require additional information about the strategic environment and can thus be interpreted as being more spontaneous. Recent work has mainly focused on understanding how aspiration dynamics alter the evolutionary outcome in structured populations. However, the baseline case for understanding strategy selection is the well-mixed population case, which is still lacking sufficient understanding. We explore how aspiration-driven strategy-update dynamics under imperfect rationality influence the average abundance of a strategy in multi-player evolutionary games with two strategies. We analytically derive a condition under which a strategy is more abundant than the other in the weak selection limiting case. This approach has a long-standing history in evolutionary games and is mostly applied for its mathematical approachability. Hence, we also explore strong selection numerically, which shows that our weak selection condition is a robust predictor of the average abundance of a strategy. The condition turns out to differ from that of a wide class of imitation dynamics, as long as the game is not dyadic. Therefore, a strategy favoured under imitation dynamics can be disfavoured under aspiration dynamics. This does not require any population structure, and thus highlights the intrinsic difference between imitation and aspiration dynamics.

  12. [Gastric aspiration therapy is a possible alternative to treatment of obesity

    DEFF Research Database (Denmark)

    Christensen, Marie Møller; Jorsal, Tina; Naver, Lars Peter Skat

    2017-01-01

    Aspiration therapy with AspireAssist is a novel endoscopic obesity treatment. Patients aspirate approximately 30% of an ingested meal through a draining system connected to a percutanous endoscopic gastrostomy tube. AspireAssist was recently approved by the US Food and Drug Administration, and it......-term effects are warranted....

  13. [Gastric aspiration therapy is a possible alternative to treatment of obesity

    DEFF Research Database (Denmark)

    Christensen, Marie Møller; Jorsal, Tina; Naver, Lars Peter Skat

    2017-01-01

    Aspiration therapy with AspireAssist is a novel endoscopic obesity treatment. Patients aspirate approximately 30% of an ingested meal through a draining system connected to a percutanous endoscopic gastrostomy tube. AspireAssist was recently approved by the US Food and Drug Administration...

  14. Cross-Lagged Relationships between Career Aspirations and Goal Orientation in Early Adolescents

    Science.gov (United States)

    Creed, Peter; Tilbury, Clare; Buys, Nick; Crawford, Meegan

    2011-01-01

    We surveyed 217 students (145 girls; average age = 14.6 years) on two occasions, twelve months apart, on measures of career aspirations (job aspirations, job expectations, educational aspirations) and goal orientation (learning, performance-prove, performance-avoid), and tested the causal relationship between goal orientation and aspirations. We…

  15. Scintigraphic diagnosis of silent aspiration following double-sided lung transplantation

    International Nuclear Information System (INIS)

    Toenshoff, G.; Stock, U.; Bohuslavizki, K.H.; Brenner, W.; Costard-Jaeckle, A.; Cremer, J.; Clausen, M.

    1996-01-01

    We present a case of a 25 year old patient who underwent double-sided lung transplantation and suffered from recurrent pneumonia. Silent aspiration was suspected clinically. Aspiration was proved by scintigraphy enabling to discriminate between direct oro-pulmonal aspiration and aspiration after gastro-esophageal reflux. (orig.) [de

  16. Pulmonary Complications of Gastric Fluid and Bile Salts Aspiration, an Experimental Study in Rat

    Directory of Open Access Journals (Sweden)

    Mitra Samareh Fekri

    2013-06-01

    Full Text Available   Objective(s: Gastroesophageal Reflux Disease (GERD is one of the most common digestive disorders that frequently lead to pulmonary complications due to gastric fluid aspiration. In the present experimental study, chronic aspiration of gastric fluid, its components and bile salts in rat lung was performed to find out the main factor(s causing pulmonary complications of gastric fluid aspiration.   Materials and Methods: Forty eight male rats weighted 250-300 g were selected in six groups. After anesthesia and tracheal cannulation, the animals received 0.5 ml/kg normal saline, 0.5 ml/kg of whole gastric fluid, 0.5 ml/kg pepsin (2.5 μg/ml, 0.5 ml/kg hydrochloric acid (pH=1.5 or 0.5 ml/kg bile salts (2.5 μg/ml by injection into their trachea and lungs. In sham group nothing was injected. Results: Parenchymal and airways inflammation and fibrosis of bronchi, bronchioles and parenchyma were significantly more in the test groups compared to saline and sham groups (P

  17. Cushing syndrome due to adrenal tumor

    Science.gov (United States)

    ... include: Backache, which occurs with routine activities Bone pain or tenderness Collection of fat between the shoulders and above the collar bone Rib and spine fractures caused by thinning of the bones Weak muscles, ...

  18. Stroke due to Familial Marfan Syndrome

    Directory of Open Access Journals (Sweden)

    M.Taylan Pekoz

    2013-04-01

    Full Text Available Marfan sendromu iskelet, okuler, kardiyovaskuler, akciger, deri ve dura anormalliklerine yol acan otozomal dominant gecisli multisistem bir hastaliktir. Bu makalede Ailesel Marfan Sendromu tanisi alan ve takip periyodunda inme gelisen bir olgu sunulmustur. . [Cukurova Med J 2013; 38(2.000: 285-289

  19. Aspiration requirements for the transportation of retrievably stored waste in the TRUPACT-2 package

    International Nuclear Information System (INIS)

    Djordjevic, S.; Drez, P.; Murthy, D.; Temus, C.

    1990-01-01

    The Transuranic Package Transporter-II (TRUPACT-II) is the shipping package to be used for the transportation of contact-handled transuranic (CH TRU) waste between the various US Department of Energy (DOE) sites, and to the Waste Isolation Pilot Plant (WIPP) located near Carlsbad, New Mexico. Waste (payload) containers to be transported in the TRUPACT-II package are required to be vented prior to being shipped. ''Venting'' refers to the installation of one or more carbon composite filters in the lid of the container, and the puncturing of a rigid liner (if present). This ensures that there is no buildup of pressure or potentially flammable gas concentrations in the container prior to transport. Payload containers in retrievable storage that have been stored in an unvented condition at the DOE sites, may have generated and accumulated potentially flammable concentrations of gases (primarily due to generation of hydrogen by radiolysis) during the unvented storage period. Such payload containers need to be aspirated for a sufficient period of time until safe pre-transport conditions (acceptably low hydrogen concentrations) are achieved. The period of time for which a payload container needs to be in a vented condition before qualifying for transport in a TRUPACT-II package is defined as the ''aspiration time.'' This paper presents the basis for evaluating the minimum aspiration time for a payload container that has been in unvented storage. Three different options available to the DOE sites for meeting the aspiration requirements are described in this paper. 4 refs., 2 figs

  20. Percutaneous aspiration thrombectomy for the treatment of acute lower extremity deep vein thrombosis: is thrombolysis needed?

    Energy Technology Data Exchange (ETDEWEB)

    Kwon, S.H. [Department of Radiology, Kyung Hee University Medical Center, Seoul (Korea, Republic of); Oh, J.H. [Department of Radiology, Kyung Hee University Medical Center, Seoul (Korea, Republic of)], E-mail: radkwon@dreamwiz.com; Seo, T.-S. [Department of Radiology, Korea University Guro Hospital, Seoul (Korea, Republic of); Ahn, H.J.; Park, H.C. [Department of Surgery, Kyung Hee University Medical Center, Seoul (Korea, Republic of)

    2009-05-15

    Aim: To assess the technical feasibility and initial success of aspiration thrombectomy as a potential alternative to lytic therapy in initial endovascular management of acute lower extremity deep vein thrombosis (DVT). Materials and Methods: From July 2004 to October 2007, a retrospective analysis of 27 patients (male:female 5:22; mean age 59 years) with acute iliofemoral or femoropopliteal DVT of less than 2 weeks was performed. All patients underwent sonography of the lower extremities, and 13 patients underwent computed tomography (CT) venography. All patients received an inferior vena cava (IVC) filter and were initially treated with aspiration thrombectomy using the pullback technique with or without basket thrombus fragmentation. If persistent stenotic portions (>50% luminal narrowing) were noted, balloon angioplasty or stent placement was performed. Successful recanalization was defined as successful restoration of antegrade flow in the treated vein with elimination of any underlying obstructive lesion. Results: The mean procedure time was 65 min (range 40-100 min). Successful initial recanalization was achieved in 24 patients (88.9%) without complications. Urokinase was required for three patients (11.1%) due to a hard thrombus remaining in the iliac vein. Of the 27 patients, 23 had residual venous stenosis in the common iliac vein or external iliac vein. Therefore, balloon angioplasty (n = 23) and stent placement (n = 22) was performed. The remaining four patients were treated using only aspiration thrombectomy without angioplasty or stent placement. Conclusion: Aspiration thrombectomy without catheter-directed thrombolysis is a safe and effective treatment for acute DVT of the lower extremities, and minimizes the risk of haemorrhagic complications.