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Sample records for septum causing severe

  1. Aneurysm of the Membranous Septum Causing Outflow Obstruction of the Venous Ventricle in Corrected Transposition of the Great Arteries

    PubMed Central

    Gunawan, Antonius; Krajcer, Zvonimir; Leachman, Robert D.

    1982-01-01

    A 58 year-old man with clinical and hemodynamic evidence of subpulmonic stenosis was admitted to our hospital. Angiography revealed corrected transposition of the great arteries and an aneurysm of membranous ventricular septum (AVS) that protruded into the venous outflow tract, causing severe subpulmonic obstruction during systole. The diagnosis was confirmed at surgery, and successful repair of the aneurysm was performed. This was an unusual case because the AVS caused such severe obstruction that the venous ventricular pressure was elevated to a value equal to the systemic level. Images PMID:15226819

  2. Lipomatous hypertrophy of the interatrial septum and fibrosing mediastinal lymphadenopathy causing superior vena cava obstruction

    PubMed Central

    Baikoussis, Nikolaos G.; Argiriou, Orestis; Kratimenos, Theodoros; Dedeilias, Panagiotis; Argiriou, Michalis

    2015-01-01

    Lipomatous hypertrophy of the interatrial septum (LHIS) is an uncommon cause of superior vena cava syndrome (SVCS). Fibrosing mediastinal lymphadenopathy is another cause of SVCS. We present a 65-year-old female patient with a history of tuberculosis (TB) and the coexistence of LHIS and fibrosing mediastinitis due to TB of the lung. Fibrosing or sclerosing mediastinitis is a rare entity with few cases published in the western literature. She presented with mild symptomatology of SVCS and she underwent on transthoracic and transesophageal echocardiography, computed tomography scan, magnetic resonance imaging, and venography. Due to the development of an abundant collateral venous system seen on venography and her negation for any treatment, she did not undergo yet on any intervention. To our knowledge, this is the first case reported in the international bibliography in which LHIS and sclerosing lymphadenopathy are simultaneously diagnosed in the same patient. PMID:26440257

  3. ‘Saddle nose’ deformity caused by advanced squamous cell carcinoma of the nasal septum

    PubMed Central

    Graham, Hamish Edward; Connolly, Cara; Pahal, Gurjinderpal S; Stafford, Francis W

    2014-01-01

    Hidden behind their common garden symptoms, malignant tumours of the nasal cavity are typically advanced when detected. Squamous cell carcinoma (SCC) is the most common histological type of these rare tumours which may simply present with epistaxis or a blocked nose. A 79-year-old woman attended our clinic with a 2-year history of progressive nasal collapse resulting in a ‘saddle nose deformity’. Imaging showed a soft tissue mass with absolute destruction of the nasal septum and bones with hard palate and maxillary involvement. Histology confirmed a poorly differentiated SCC. Following discussion at the local head and neck multidisciplinary team meeting, the patient was offered radiotherapy alone due to her advanced presentation. She has had a good response to treatment with no further disease progression. Nasal septal SCC is far more successfully treated in the early stages. A suspicious clinician is the patients best ally. PMID:25096649

  4. Deviated Septum

    MedlinePlus

    ... only when he or she also has a "cold" (an upper respiratory tract infection). In these individuals, ... problems related to the deviated septum. Once the "cold" resolves, and the nasal inflammation subsides, symptoms of ...

  5. A New Perspective for Spreader Graft Use in Severely Deviated Septum: Is Septal Continuity an Obligation for a Stable and Straight Nasal Septum?

    PubMed

    Sirinoglu, Hakan; Yesiloglu, Nebil; Ersoy, Burak

    2016-08-01

    Severe septal deviation is a challenging deformity usually treated using aggressive surgical methods, and extracorporeal septoplasty (ECS) is a commonly used method for this issue. However, this method has severe risks and complications such as the recurrent deformity or nasal saddling. In this article, we present an alternative solution to ECS procedure for the correction of severe septal deviation. Sixteen patients with severe c- or s-shaped septal deviation with a mean age of 26.5 years were included in the study. The entire deviated part of the septal cartilage was resected as a vertical block creating a full-thickness defect between the most cranial and caudal parts of the septal cartilage. After that, two spreader grafts were placed bilaterally facilitating the septal integrity and leaving the full-thickness septal defect unchanged. The surgical results were evaluated using the preoperative and postoperative facial photographs and patient satisfaction was determined using nine relevant questions of DAS-59 scale. The only complication observed in the follow-up period of 19 months was hanging columella deformity which was corrected at the postoperative first year. The mean length of the resected septal segment was 12.4 mm. The mean length of the resultant septal cartilage defect after the vertical resection was 5.9 mm. The mean length of the placed spreader grafts was 25.6 mm. The comparison of the preoperative and postoperative photographs showed significant improvement of the nasal contour and considerable correction of the septal deviation. The statistical evaluation of the answers given to the questions of the DAS-59 scale clearly demonstrates that a significant degree of patient satisfaction was achieved. Severe septal deviation may be successfully corrected by full-thickness resection of the deviated part and reconstruction with bilateral spreader grafts with a low risk of postoperative complications. PMID:27494592

  6. Fat in the ventricular septum

    PubMed Central

    Donaldson, Erin E.; Ko, Jong Mi; Kuiper, Johannes J.; Chamogeorgakis, Themistokles

    2014-01-01

    Described herein is a 68-year-old man who underwent cardiac transplantation for severe chronic heart failure resulting from ischemic cardiomyopathy. Examination of the excised heart showed not only extensive left ventricular scarring but also a huge collection of adipose tissue in the subepicardial region and surprisingly also in the ventricular septum. The finding of fat in the ventricular septum is extremely rare and prompted this report. PMID:24982572

  7. Surgery of the nasal septum.

    PubMed

    Mlynski, Gunter

    2006-11-01

    Long-term results after septoplasty are not satisfactory. Apart from a recurrence of deviation, there are various reasons for this: false preoperative analysis, complete straightening of the septum, and a disturbed nasal cycle. Preoperative functional diagnostics with a combination of rhinoresistometry, acoustic rhinometry, and long-term rhinoflowmetry are necessary for differentiating between "physiological" and "pathological" septal deviations and recognizing other causes for obstruction. The surgical procedure of septoplasty includes approach, mobilization, resection, reposition, and finally reconstruction of all three layers. The goal of the operation should not be complete straightening of the nasal septum. The space between the septum and turbinates is of utmost importance. It should not be enlarged as much as possible; rather, it must be shaped in such a way as to allow freely congestion and decongestion reciprocal on the two sides during the nasal cycle. PMID:17131264

  8. THE AGS ELECTROSTATIC SEPTUM.

    SciTech Connect

    HOCK,J.RUSSO,T.GLEN,J.BROWN,K.

    2003-05-12

    The previous slow beam extraction electro static septum in the AGS was designed in 1981. Research documented at the Fermi Laboratory was used as the base line for this design. The septum consisted of a ground plane of .002 inch diameter wire tungsten-rhenium alloy (75%W 25%Re) with a hollow welded titanium cathode assembly. The vacuum chamber is stationary and the septum is moved with a pair of high vacuum linear feed throughs. After years of beam time, the frequency of failures increased. The vacuum system design was poor by today's standards and resulted in long pump down times after repairs. The failures ranged from broken septum wires to a twisted cathode. In addition to the failures, the mechanical drive system had too much backlash, making the operating position difficult to repeat. The new septum needed to address all of these issues in order to become a more reliable septum.

  9. Deletion of GPIHBP1 causing severe chylomicronemia.

    PubMed

    Rios, Jonathan J; Shastry, Savitha; Jasso, Juan; Hauser, Natalie; Garg, Abhimanyu; Bensadoun, André; Cohen, Jonathan C; Hobbs, Helen H

    2012-05-01

    Lipoprotein lipase (LPL) is a hydrolase that cleaves circulating triglycerides to release fatty acids to the surrounding tissues. The enzyme is synthesized in parenchymal cells and is transported to its site of action on the capillary endothelium by glycophosphatidylinositol (GPI)-anchored high-density lipoprotein-binding protein 1 (GPIHBP1). Inactivating mutations in LPL; in its cofactor, apolipoprotein (Apo) C2; or in GPIHBP1 cause severe hypertriglyceridemia. Here we describe an individual with complete deficiency of GPIHBP1. The proband was an Asian Indian boy who had severe chylomicronemia at 2 months of age. Array-based copy-number analysis of his genomic DNA revealed homozygosity for a 17.5-kb deletion that included GPIHBP1. A 44-year-old aunt with a history of hypertriglyceridemia and pancreatitis was also homozygous for the deletion. A bolus of intravenously administered heparin caused a rapid increase in circulating LPL and decreased plasma triglyceride levels in control individuals but not in two GPIHBP1-deficient patients. Thus, short-term treatment with heparin failed to attenuate the hypertriglyceridemia in patients with GPIHBP1 deficiency. The increasing resolution of copy number microarrays and their widespread adoption for routine cytogenetic analysis is likely to reveal a greater role for submicroscopic deletions in Mendelian conditions. We describe the first neonate with complete GPIHBP1 deficiency due to homozygosity for a deletion of GPIHBP1. PMID:22008945

  10. Severe Vitamin D Deficiency Causing Kyphoscoliosis.

    PubMed

    Singhai, Abhishek; Banzal, Subodh

    2013-01-01

    Vitamin D deficiency is common among Indian population. Women are especially at risk for severe vitamin D deficiency. The risk is higher for those who are multiparous and postmenopausal. Poor exposure to sunlight, higher latitude, winter season, inadequate diet, older age, obesity and malabsorption are also important risk factors. Symptoms of hypovitaminosis D, including diffuse or migratory pain affecting several sites (especially the shoulder, pelvis, ribcage and lower back) have also been misdiagnosed as musculoskeletal disorders, including fibromyalgia, polymyalgia rheumatica and ankylosing spondylitis. Here, we report two cases presented with kyphoscoliosis, diagnosed to have severe vitamin D deficiency. PMID:26664847

  11. Severe Vitamin D Deficiency Causing Kyphoscoliosis

    PubMed Central

    Singhai, Abhishek; Banzal, Subodh

    2013-01-01

    Vitamin D deficiency is common among Indian population. Women are especially at risk for severe vitamin D deficiency. The risk is higher for those who are multiparous and postmenopausal. Poor exposure to sunlight, higher latitude, winter season, inadequate diet, older age, obesity and malabsorption are also important risk factors. Symptoms of hypovitaminosis D, including diffuse or migratory pain affecting several sites (especially the shoulder, pelvis, ribcage and lower back) have also been misdiagnosed as musculoskeletal disorders, including fibromyalgia, polymyalgia rheumatica and ankylosing spondylitis. Here, we report two cases presented with kyphoscoliosis, diagnosed to have severe vitamin D deficiency. PMID:26664847

  12. Severe frostbite caused by Freon gas.

    PubMed

    Wegener, E E; Barraza, K R; Das, S K

    1991-09-01

    We have reported a case of severe frostbite due to direct exposure to liquid Freon gas (monochlorodifluoromethane), a fluorinated hydrocarbon widely used as refrigerants, propellants, and industrial solvents. The patient was treated for severe third- and fourth-degree frostbite to the hand. The severity of the injury was apparently the result of direct through-and-through injury from exposure to the liquid (boiling point -40.5 degrees C) and a possible systemic vasoconstrictive effect on arterial smooth muscle due to inhalation of Freon gas. PMID:1891741

  13. [Severe stomatitis caused by Mycoplasma pneumoniae infection].

    PubMed

    Barfod, T S; Pedersen, C

    1999-11-15

    Mycoplasma pneumoniae infection is sometimes followed by systemic reactions such as erythema multiforme major/Stevens-Johnsons syndrome. In the described case, a 30 year-old man developed severe inflammation of the oral mucous membranes following respiratory infection with Mycoplasma pneumoniae. There was also conjunctivitis and diarrhoea, and a target-like eruption was seen on the penis, but apart from slight perioral erythema and periorbital swelling, no further skin involvement was seen. The patient was treated with macrolide antibiotics for 14 days and gradually recovered. PMID:10611837

  14. Elevated Fra-1 expression causes severe lipodystrophy.

    PubMed

    Luther, Julia; Driessler, Frank; Megges, Matthias; Hess, Andreas; Herbort, Bettina; Mandic, Vice; Zaiss, Mario M; Reichardt, Anne; Zech, Christine; Tuckermann, Jan P; Calkhoven, Cornelis F; Wagner, Erwin F; Schett, Georg; David, Jean-Pierre

    2011-05-01

    A shift from osteoblastogenesis to adipogenesis is one of the underlying mechanisms of decreased bone mass and increased fat during aging. We now uncover a new role for the transcription factor Fra-1 in suppressing adipogenesis. Indeed, Fra1 (Fosl1) transgenic (Fra1tg) mice, which developed progressive osteosclerosis as a result of accelerated osteoblast differentiation, also developed a severe general lipodystrophy. The residual fat of these mice appeared immature and expressed lower levels of adipogenic markers, including the fatty acid transporter Cd36 and the CCAAT/enhancer binding protein Cebpa. Consequently accumulation of triglycerides and free fatty acids were detected in the serum of fasting Fra1tg mice. Fra-1 acts cell autonomously because the adipogenic differentiation of Fra1 transgenic primary osteoblasts was drastically reduced, and overexpression of Fra-1 in an adipogenic cell line blocked their differentiation into adipocytes. Strikingly, Cebpa was downregulated in the Fra-1-overexpressing cells and Fra-1 could bind to the Cebpa promoter and directly suppress its activity. Thus, our data add to the known common systemic control of fat and bone mass, a new cell-autonomous level of control of cell fate decision by which the osteogenic transcription factor Fra-1 opposes adipocyte differentiation by inhibiting C/EBPα. PMID:21486951

  15. Eosinophilic Angiocentric Fibrosis of the Nasal Septum

    PubMed Central

    Li, Yunchuan; Liu, Honggang; Zang, Hongrui; Wang, Tong; Hu, Bin

    2013-01-01

    Background. Eosinophilic angiocentric fibrosis (EAF) is a rare benign condition of unknown aetiology that causes stenosis of the upper respiratory tract. It is most commonly found at the nasal septum and sinus mucosa causing mucosal thickening and nasal obstructive symptoms. The diagnosis is mainly based on characteristic histologic findings. Case Report. A 27-year-old young woman presented with a slow growing mass at her anterior nasal septum for over eight years. She complained of persistent nasal obstruction, epistaxis, sometimes diffused facial pain, and chronic headache. 3 years ago, the tumor was partially resected for ventilation and a nasal septum perforation was left. Imaging findings indicated soft-tissue thickening of the anterior part of septum and adjacent lateral nasal walls. Pathological examination showed numerous inflammatory cells infiltrates containing eosinophils, fibroinflammatory lesion with a whorled appearance fibrosis which typically surrounded vessels. A diagnosis of eosinophilic angiocentric fibrosis was made. All laboratory tests were unremarkable. Skin prick test was positive. The tumor-like lesion was totally resected. Conclusions. EAF is a rare benign and progressive disorder causing destruction. Combined with radiological imaging of EAF historical findings contribute to the diagnosis. It is important to prevent tumor from recurrence by total resection of the lesion. PMID:23634315

  16. Restrictive atrial septum after the Fontan procedure.

    PubMed

    Penford, Gemma; Quandt, Daniel; Stumper, Oliver

    2016-03-01

    In this study, three patients presenting with early or late postoperative Fontan complications were identified to suffer from restriction of the native atrial septum. This caused significant obstruction to pulmonary venous return and elevated systemic venous pressure. Dobutamine stress testing was used in one patient to identify this lesion. Transcatheter stenting was performed in the other two patients. Patients improved after relief of the obstruction. PMID:26175163

  17. Nasal septum perforation in patient with pyoderma gangrenosum

    PubMed Central

    Maia, Camilla Bezerra da Cruz; Felix, Felippe; Paes, Vania; de Azevedo, Julia Alves; Grangeiro, Eliza Raquel Negrão; Riccio, Jonatah Lucas N.; Rito, Helen Cruz

    2012-01-01

    Summary Introduction: The cocaine is obtained from the leaves of the coca (Erythroxylon coca). It can be used in many ways, but the most common is the drug inhalation. The Cocaine also causes vasoconstriction at nasal mucous membrane and its chronic use can cause necrosis and nasal septum perforation. Pyoderma gangrenosum is an uncommon idiopathic disease characterized by ulcerations, usually observed on the legs. Its diagnosis is most common an exclusion of others diseases. So far, there is no specific treatment based on evidence by randomized controlled trials. Objective: Describe the rare association between Pyoderma gangrenosum and cocaine. Case Report: E. A., 27-year-old woman with destruction of nasal septum and palate who has been using a big amount of cocaine, been necessary note the difference from which disease cause de damage. Final Comments: Also there are only three cases of Pyoderma gangrenosum complicated with nasal septum perforation in cocaine users. PMID:25991946

  18. Vaginoscopic resection of vaginal septum.

    PubMed

    Nassif, Joseph; Al Chami, Ali; Abu Musa, Antoine; Nassar, Anwar H; Kurdi, Ahmad; Ghulmiyyah, Labib

    2012-12-01

    We report the resection of a vaginal septum while preserving the virginity of a 12-year-old girl with Herlyn-Werner-Wunderlich Syndrome (HWWS) having a didelphys uterus, obstructed hemivagina, and an ipsilateral renal agenesis with follow-up at 18 months. Successful resection of the vaginal septum with conservation of the hymenal ring and complete drainage of both the hematocolpos and the hematometra were achieved. Cyclic dysmenorrhea and pelvic pain were completely resolved on follow-up visits at 4, 6, and 18 months. Office hysteroscopy performed during the last follow-up visit revealed a patent vaginal vault without evidence of adenosis or recurrence of the vaginal septum. Vaginoscopy is a safe, convenient, and efficient diagnostic and therapeutic modality that can be used in the management of patients with an obstructed hemivagina. It maintains the patient's virginity and it is useful in patients with a restrictive vaginal opening or narrow vaginal canal. Furthermore, the hysteroscopic excision of the vaginal septum offers minimal risk of recurrence of the septal defect. PMID:23315718

  19. [Severe recurrent carbon monoxide poisoning caused by smoking].

    PubMed

    Rasmussen, Daniel Bech; Jacobsen, Villads Bønding

    2015-01-26

    Carbon monoxide (CO) is an odourless, colourless and toxic gas. Sources of CO include car exhaust, charcoal and tobacco smoke. CO binds to haemoglobin forming carboxyhaemoglobin (COHb). Heavy smokers have COHb levels up to 15%. There are reports of COHb levels of 24,2% caused by tobacco use and 28,7% after narghile smoking. A 54-year-old woman with schizophrenia was admitted at the intensive care unit with COHb levels as high as 35% caused by cigarillo smoking. She also presented with severe thiazide-induced hyponatriaemia and high haemoglobin levels. PMID:25612978

  20. Comparative transcriptome analysis of atrial septal defect identifies dysregulated genes during heart septum morphogenesis.

    PubMed

    Wang, Wenju; Niu, Zhaoyi; Wang, Yi; Li, Yaxiong; Zou, Honglin; Yang, Li; Meng, Mingyao; Wei, Chuanyu; Li, Qinrui; Duan, Le; Xie, Yanhua; Zhang, Yayong; Cao, Yu; Han, Shen; Hou, Zongliu; Jiang, Lihong

    2016-01-10

    Congenital heart disease (CHD) is one of most common birth defects, causing fetal loss and death in newborn all over the world. Atrial and ventricular septal defects were the most common CHD subtypes in most districts. During the past decades, several genes were identified to control atrial septum formation, and mutations of these genes can cause cardiac septation defects. However, the pathogenic mechanism of ASD on transcriptional levels has not been well elucidated yet. Herein, we performed comparative transcriptome analysis between normal and atrial septal defect (ASD) patients by Illumina RNA sequencing (RNA-seq). Advanced bioinformatic analyses were employed to identify dysregulated genes in ASD. The results indicated that cardiac specific transcriptional factors (GATA4 and NKX2-5), extracellular signal molecules (VEGFA and BMP10) and cardiac sarcomeric proteins (MYL2, MYL3, MYH7, TNNT1 and TNNT3) were downregulated in ASD which may affect heart atrial septum formation, cardiomyocyte proliferation and cardiac muscle development. Importantly, cell cycle was dominant pathway among downregulated genes, and decreased expression of the proteins included in cell cycle may disturb cardiomyocyte growth and differentiation during atrial septum formation. Our study provided evidences of understanding pathogenic mechanism of ASD and resource for validation of CHD genomic studies. PMID:26375510

  1. Electrostatic septum for kilowatt heavy ion beams

    NASA Astrophysics Data System (ADS)

    Alfredson, S.; Marti, F.; Miller, P.; Poe, D.; Stork, G.

    2001-12-01

    A septum of improved design has replaced the standard tungsten septum with uniform thickness used in the deflector for the K1200 cyclotron at Michigan State University [1]. A V-notch in the leading edge enhanced radiation cooling, and an increased septum thickness away from the median plane enhanced conduction of heat to the water cooled housing. Previously observed degradation of beam transmission attributed to thermally induced deformation of the septum was greatly improved with the new septum. The demonstrated power dissipation with an Ar beam was 900 W.

  2. Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

    PubMed Central

    Grampa, Valentina; Odye, Gweltas; Thomas, Sophie; Elkhartoufi, Nadia; Filhol, Emilie; Niel, Olivier; Silbermann, Flora; Lebreton, Corinne; Collardeau-Frachon, Sophie; Rouvet, Isabelle; Alessandri, Jean-Luc; Devisme, Louise; Dieux-Coeslier, Anne; Cordier, Marie-Pierre; Capri, Yline; Khung-Savatovsky, Suonavy; Sigaudy, Sabine; Salomon, Rémi; Antignac, Corinne; Gubler, Marie-Claire; Benmerah, Alexandre; Terzi, Fabiola; Attié-Bitach, Tania; Jeanpierre, Cécile; Saunier, Sophie

    2016-01-01

    Ciliopathies are a group of genetic multi-systemic disorders related to dysfunction of the primary cilium, a sensory organelle present at the cell surface that regulates key signaling pathways during development and tissue homeostasis. In order to identify novel genes whose mutations would cause severe developmental ciliopathies, >500 patients/fetuses were analyzed by a targeted high throughput sequencing approach allowing exome sequencing of >1200 ciliary genes. NEK8/NPHP9 mutations were identified in five cases with severe overlapping phenotypes including renal cystic dysplasia/hypodysplasia, situs inversus, cardiopathy with hypertrophic septum and bile duct paucity. These cases highlight a genotype-phenotype correlation, with missense and nonsense mutations associated with hypodysplasia and enlarged cystic organs, respectively. Functional analyses of NEK8 mutations in patient fibroblasts and mIMCD3 cells showed that these mutations differentially affect ciliogenesis, proliferation/apoptosis/DNA damage response, as well as epithelial morphogenesis. Notably, missense mutations exacerbated some of the defects due to NEK8 loss of function, highlighting their likely gain-of-function effect. We also showed that NEK8 missense and loss-of-function mutations differentially affect the regulation of the main Hippo signaling effector, YAP, as well as the expression of its target genes in patient fibroblasts and renal cells. YAP imbalance was also observed in enlarged spheroids of Nek8-invalidated renal epithelial cells grown in 3D culture, as well as in cystic kidneys of Jck mice. Moreover, co-injection of nek8 MO with WT or mutated NEK8-GFP RNA in zebrafish embryos led to shortened dorsally curved body axis, similar to embryos injected with human YAP RNA. Finally, treatment with Verteporfin, an inhibitor of YAP transcriptional activity, partially rescued the 3D spheroid defects of Nek8-invalidated cells and the abnormalities of NEK8-overexpressing zebrafish embryos

  3. Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.

    PubMed

    Grampa, Valentina; Delous, Marion; Zaidan, Mohamad; Odye, Gweltas; Thomas, Sophie; Elkhartoufi, Nadia; Filhol, Emilie; Niel, Olivier; Silbermann, Flora; Lebreton, Corinne; Collardeau-Frachon, Sophie; Rouvet, Isabelle; Alessandri, Jean-Luc; Devisme, Louise; Dieux-Coeslier, Anne; Cordier, Marie-Pierre; Capri, Yline; Khung-Savatovsky, Suonavy; Sigaudy, Sabine; Salomon, Rémi; Antignac, Corinne; Gubler, Marie-Claire; Benmerah, Alexandre; Terzi, Fabiola; Attié-Bitach, Tania; Jeanpierre, Cécile; Saunier, Sophie

    2016-03-01

    Ciliopathies are a group of genetic multi-systemic disorders related to dysfunction of the primary cilium, a sensory organelle present at the cell surface that regulates key signaling pathways during development and tissue homeostasis. In order to identify novel genes whose mutations would cause severe developmental ciliopathies, >500 patients/fetuses were analyzed by a targeted high throughput sequencing approach allowing exome sequencing of >1200 ciliary genes. NEK8/NPHP9 mutations were identified in five cases with severe overlapping phenotypes including renal cystic dysplasia/hypodysplasia, situs inversus, cardiopathy with hypertrophic septum and bile duct paucity. These cases highlight a genotype-phenotype correlation, with missense and nonsense mutations associated with hypodysplasia and enlarged cystic organs, respectively. Functional analyses of NEK8 mutations in patient fibroblasts and mIMCD3 cells showed that these mutations differentially affect ciliogenesis, proliferation/apoptosis/DNA damage response, as well as epithelial morphogenesis. Notably, missense mutations exacerbated some of the defects due to NEK8 loss of function, highlighting their likely gain-of-function effect. We also showed that NEK8 missense and loss-of-function mutations differentially affect the regulation of the main Hippo signaling effector, YAP, as well as the expression of its target genes in patient fibroblasts and renal cells. YAP imbalance was also observed in enlarged spheroids of Nek8-invalidated renal epithelial cells grown in 3D culture, as well as in cystic kidneys of Jck mice. Moreover, co-injection of nek8 MO with WT or mutated NEK8-GFP RNA in zebrafish embryos led to shortened dorsally curved body axis, similar to embryos injected with human YAP RNA. Finally, treatment with Verteporfin, an inhibitor of YAP transcriptional activity, partially rescued the 3D spheroid defects of Nek8-invalidated cells and the abnormalities of NEK8-overexpressing zebrafish embryos

  4. Upflow bioreactor with septum and pressure release mechanism

    DOEpatents

    Hansen, Conly L.; Hansen, Carl S.; Pack, Kevin; Milligan, John; Benefiel, Bradley C.; Tolman, C. Wayne; Tolman, Kenneth W.

    2010-04-20

    An upflow bioreactor includes a vessel having an inlet and an outlet configured for upflow operation. A septum is positioned within the vessel and defines a lower chamber and an upper chamber. The septum includes an aperture that provides fluid communication between the upper chamber and lower chamber. The bioreactor also includes means for releasing pressure buildup in the lower chamber. In one configuration, the septum includes a releasable portion having an open position and a closed position. The releasable portion is configured to move to the open position in response to pressure buildup in the lower chamber. In the open position fluid communication between the lower chamber and the upper chamber is increased. Alternatively the lower chamber can include a pressure release line that is selectively actuated by pressure buildup. The pressure release mechanism can prevent the bioreactor from plugging and/or prevent catastrophic damage to the bioreactor caused by high pressures.

  5. [Severe atopic dermatitis caused by rare immunodeficiency in childhood].

    PubMed

    Wolsk, Helene Mygind; Marquart, Hanne V; Laub, Bodil; Gniadecki, Robert; Nysom, Karsten; Ifversen, Marianne

    2015-12-14

    Two children are presented with autosomal recessive hyper IgE syndrome caused by a mutation in the dedicator of cytokinesis 8 gene (DOCK8). The manifestations are typically severe atopic dermatitis, food allergies, elevated serum IgE concentration, viral skin infections and risk of malignancies. DOCK8 deficiency was first reported in 2009, following the death of the oldest sibling. The youngest sibling was cured after allogenic stem cell transplantation. This case report illustrates the need of awareness of primary immunodeficiency in children with atypical manifestation of atopic dermatitis in combination with recurrent infections. PMID:26692033

  6. Primary prostatic haemangiosarcoma causing severe haematuria in a dog.

    PubMed

    Della Santa, D; Dandrieux, J; Psalla, D; Gorgas, D; Lang, J; Geissbuehler, U; Howard, J

    2008-05-01

    A 10-year-old, entire, male, mixed-breed dog was presented for severe haematuria and stranguria. Ultrasound revealed a large intraluminal urinary bladder blood clot and a prostatic space-occupying lesion. Invasion of the lesion into the prostatic urethra was detected ultrasonographically during compression of the urinary bladder. Post-mortem examination revealed primary prostatic haemangiosarcoma infiltrating the urethra. Haemangiosarcoma should be considered as a rare cause of prostatic mass lesions, haematuria or lower urinary tract signs in dogs. PMID:18373542

  7. Severe keloids caused by hydrogen cyanide injury: a case report.

    PubMed

    Jian, Xiangdong; Guo, Guangran; Ruan, Yanjun; Lin, Dawei; Zhao, Bo

    2008-01-01

    The purpose of this study was to report severe keloids caused by hydrogen cyanide injury. Hydrogen cyanide poisoning is still a problem as an occupational disease in China. We report a 37-year-old man with severe hydrogen cyanide poisoning. The patient fell on the floor after inhalation of hydrogen cyanide and was burned on his back by hydrocyanic acid. Sequential treatment included amyl nitrite by inhalation, intravenous sodium nitrite 3%, and intravenous sodium thiosulfate 25%. Other treatment consisted of incision of the trachea, mannitol and furosemide, antibiotics, and nutrient support measures. The patient also received hyperbaric oxygen therapy; during the first treatment, he became apneic and cardiopulmonary resuscitation was supplied in the hyperbaric oxygen chamber. He eventually recovered, but a large amount of keloids developed on his back and buttocks. PMID:18568895

  8. Imaging Septum Formation by Fluorescence Microscopy.

    PubMed

    Ribas, Juan Carlos; Cortés, Juan Carlos G

    2016-01-01

    Fungal cleavage furrow formation during cytokinesis relays in the coordinated contraction of an actomyosin-based ring and the centripetal synthesis of both new plasma membrane and a special wall structure named division septum. Through transmission electron microscopy, the septum exhibits a three-layered structure with a central primary septum, flanked at both sides by the secondary septum. In contrast to the chitinous primary septum present in most of fungi, the fission yeast Schizosaccharomyces pombe does not contain chitin, instead it divides through the formation of a linear β(1,3)glucan-rich primary septum, which has been shown to be specifically stained by the fluorochrome Calcofluor white. Recent findings in S. pombe have revealed the importance of septum synthesis for the steady contraction of the ring during cytokinesis. Therefore, to study the molecular mechanisms that connect the extracellular septum wall with the other components of the cytokinetic machinery located in the plasma membrane and cytoplasm, new experimental approaches are needed. Here we describe the methods developed to image the septum structure by fluorescence microscopy, with a special focus in the analysis of septum progression by the use of time-lapse microscopy. PMID:26519306

  9. Drc1p/Cps1p, a 1,3-beta-glucan synthase subunit, is essential for division septum assembly in Schizosaccharomyces pombe.

    PubMed Central

    Liu, J; Wang, H; McCollum, D; Balasubramanian, M K

    1999-01-01

    Schizosaccharomyces pombe divides by medial fission through the use of an actomyosin-based contractile ring. A division septum is formed centripetally, concomitant with ring constriction. Although several genes essential for cytokinesis have been described previously, enzymes that participate in the assembly of the division septum have not been identified. Here we describe a temperature-sensitive mutation, drc1-191, that prevents division septum assembly and causes mutant cells to arrest with a stable actomyosin ring. Unlike the previously characterized cytokinesis mutants, which undergo multiple mitotic cycles, drc1-191 is the first cytokinesis mutant that arrests with two interphase nuclei. Interestingly, unlike drc1-191, drc1-null mutants proceed through multiple mitotic cycles, leading to the formation of large cells with many nuclei. drc1 is allelic to cps1, which encodes a 1,3-beta-glucan synthase subunit. We conclude that Drc1p/Cps1p is not required for cell elongation and cell growth, but plays an essential role in assembly of the division septum. Furthermore, it appears that constriction of the actomyosin ring might depend on assembly of the division septum. We discuss possible mechanisms that account for the differences in the phenotypes of the drc1-191 and the drc1-null mutants and also reflect the potential links between Drc1p and other cytokinesis regulators. PMID:10545452

  10. MECP2 duplication: possible cause of severe phenotype in females.

    PubMed

    Scott Schwoerer, Jessica; Laffin, Jennifer; Haun, Joanne; Raca, Gordana; Friez, Michael J; Giampietro, Philip F

    2014-04-01

    MECP2 duplication syndrome, originally described in 2005, is an X-linked neurodevelopmental disorder comprising infantile hypotonia, severe to profound intellectual disability, autism or autistic-like features, spasticity, along with a variety of additional features that are not always clinically apparent. The syndrome is due to a duplication (or triplication) of the gene methyl CpG binding protein 2 (MECP2). To date, the disorder has been described almost exclusively in males. Female carriers of the duplication are thought to have no or mild phenotypic features. Recently, a phenotype for females began emerging. We describe a family with ∼290 kb duplication of Xq28 region that includes the MECP2 gene where the proposita and affected family members are female. Twin sisters, presumed identical, presented early with developmental delay, and seizures. Evaluation of the proposita at 25 years of age included microarray comparative genomic hybridization (aCGH) which revealed the MECP2 gene duplication. The same duplication was found in the proposita's sister, who is more severely affected, and the proband's mother who has mild intellectual disability and depression. X-chromosome inactivation studies showed significant skewing in the mother, but was uninformative in the twin sisters. We propose that the MECP2 duplication caused for the phenotype of the proband and her sister. These findings support evidence for varied severity in some females with MECP2 duplications. PMID:24458799

  11. Severe adverse reactions caused by omeprazole: A case report

    PubMed Central

    Yu, Meiling; Qian, Jianghua; Guo, Daohua; Li, Li; Liu, Xiaolin

    2016-01-01

    A 61-year-old female patient was admitted to hospital following development of a whole-body rash for 10 days, diarrhea for 7 days, and unconsciousness and oliguria for 1 day. The patient had developed stomach discomfort following the oral administration of non-steroidal anti-inflammatory drugs, the exact nature of which was unknown, for the treatment of arthritic pain for >1 month. The patient was then prescribed omeprazole enteric-coated tablets (20 mg twice daily) for treatment of this symptom. However, the patient developed a whole-body rash 7 days after administering omeprazole, 10 days prior to admission. This symptom was followed by severe diarrhea with nausea and vomiting after 10 days, then shock. The shock occurred after administering omeprazole for 16 days. The patient developed a whole body rash 7 days after administering omeprazole, then 3 days later (after administering omeprazole for 10 days) severe diarrhea with nausea and vomiting occurred. The shock remained until administering omeprazole on the 16th day, with severe diarrhea with nausea and vomiting occurring 6 days later. The patient's condition did not improve following treatment for allergies, low blood pressure and oliguria in the Intensive Care Unit (ICU) department at Suzhou Municipal Hospital. For further diagnosis and treatment, the patient was admitted to the ICU department of The First Affiliated Hospital of Bengbu Medical College and was given a fluid infusion, antibiotics and phlegm-reducing treatment, a plasma infusion, blood filtration, and anti-diarrheal and anti-allergy treatment. The patient's vital signs were stable, with a normal temperature and hemogram results, and improved kidney function and deflorescence. Genetic screening revealed that the patient poorly metabolized omeprazole. Therefore, severe adverse reactions (allergic shock, rash and diarrhea) experienced by the patient were caused by the accumulation of omeprazole metabolites resulting from its slow metabolism in

  12. Electromagnetic field analysis of septum magnet for APS positron accumulator ring

    SciTech Connect

    Yokoi, Toshiaki; Turner, L.R.

    1995-07-01

    This report consists of three parts. The first part describes a numerical analysis method for the electromagnetic field analysis of a septum magnet. A novel improvement to the treatment of exciting currents in the time-domain is proposed. The second part discusses numerical predictions of the electromagnetic characteristics of the APS PAR septum. The time variations of stray field and eddy currents are shown for three magnet designs. The last part explores how decreasing the septum material conductivity affects the stray field. The decrease of conductivity may be caused by an inadequate manufacturing of the septum material. The significance of a high quality septum, or flat interface between copper and iron, is emphasized from a point of view of stray field. An ideal method for joining two different metals without distortion, called HIP (Hot Isostatic Pressing), is introduced and recommended based on the authors` experience.

  13. The role of glutamatergic pathway between septum and hippocampus in the memory formation

    PubMed Central

    Khakpai, Fatemeh; Zarrindast, Mohammad Reza; Nasehi, Mohammad; Haeri-Rohani, Ali; Eidi, Akram

    2013-01-01

    The N-methyl-D-aspartate (NMDA) receptor is a subtype of glutamate receptor that is presented in highest density in the hippocampus and septum. NMDA receptors of the septum and the hippocampus are involved in cognitive performance, especially in learning and memory processes. The septum nucleus and hippocampal formation are two regions of the limbic system. The septum and the hippocampus are anatomically and functionally connected to each other. These areas made the septo-hippocampal and hippocampo-septal pathways, which are implicated in the cognitive processes. The activity of septal and hippocampal neurons is modulated by several neurotransmitters such as glutamate. Thus, changes in the glutamatergic transmission in the septum and hippocampus may influence learning and memory processes in these pathways.

  14. Missiles caused by severe pressurized-water reactor accidients

    SciTech Connect

    Krieg, R.

    1995-07-01

    For future pressurized-water reactors, which should be designed against core-meltdown accidents, missiles generated inside the containment present a severe problem for its integrity. The masses and geometries of the missiles, as well as their velocities, may vary to a great extent. Therefore a reliable proof of the containment integrity is very difficult. In this article the potential sources of missiles are discussed, and the conclusion was reached that the generation of heavy missiles must be prevented. Steam explosions must not damage the reactor vessel head. Thus fragments of the head cannot become missiles that endanger the containment shell. Furthermore, during a melt-through failure of the reactor vessel under high pressure, the resulting forces must not catapult the whole vessel against the containment shell. Only missiles caused by hydrogen explosions may be tolerable, but shielding structures that protect the containment shell may be required. Further investigations are necessary. Finally, measures are described showing that the generation of heavy missiles can indeed be prevented. Investigations are currently being carried out that will confirm the strength of the reactor vessel head. In addition, a device for retaining the fragments of a failing reactor vessel is discussed.

  15. Foetal therapy: what works? Closed interatrial septum.

    PubMed

    Herberg, Ulrike; Berg, Christoph; Geipel, Annegret; Gembruch, Ulrich; Breuer, Johannes

    2014-10-01

    Hypoplastic left-heart syndrome and critical aortic stenosis with severely restricted or intact foramen ovale are associated with high neonatal mortality and poor long-term outcome. Despite accurate foetal diagnosis and successful postnatal catheter-based and surgical intervention, the 1-month survival rate is about 33%. Changes in pulmonary vascular architecture resulting in pulmonary hypertension result in important long-term morbidity. Prenatal relief of left atrial and pulmonary hypertension may promote normal pulmonary vascular and parenchymal development and improve short- and long-term outcomes. Foetal atrial balloon septostomy, laser perforation, and stenting of the foetal interatrial septum are the current options for foetal therapy. This paper provides an overview of foetal diagnosis, selection of patients for foetal intervention, and interventional techniques, and also reviews the current status of foetal and postnatal outcomes after intrauterine intervention. PMID:25159557

  16. A 77-118 GHz RESONANCE-FREE SEPTUM POLARIZER

    SciTech Connect

    Chen, Yen-Lin; Chiueh, Tzihong; Teng, Hsiao-Feng

    2014-03-01

    Measurements of polarized radiation often reveal specific physical properties of emission sources, such as the strengths and orientations of magnetic fields offered by synchrotron radiation and Zeeman line emission, and the electron density distribution caused by free-free emission. Polarization-capable, millimeter/sub-millimeter telescopes are normally equipped with either septum polarizers or ortho-mode transducers (OMT) to detect polarized radiation. Though the septum polarizer is limited to a significantly narrower bandwidth than the OMT, it possesses advantageous features unparalleled by the OMT when it comes to determining astronomical polarization measurements. We design an extremely wide-band circular waveguide septum polarizer, covering 42% bandwidth, from 77 GHz to 118 GHz, without any undesired resonance, challenging the conventional bandwidth limit. Stokes parameters, constructed from the measured data between 77 GHz and 115 GHz, show that the leakage from I to Q and U is below ±2%, and the Q – U mutual leakage is below ±1%. Such a performance is comparable to other modern polarizers, but the bandwidth of this polarizer can be at least twice as wide. This extremely wide-band design removes the major weakness of the septum polarizer and opens up a new window for future astronomical polarization measurements.

  17. A 77-118 GHz Resonance-free Septum Polarizer

    NASA Astrophysics Data System (ADS)

    Chen, Yen-Lin; Chiueh, Tzihong; Teng, Hsiao-Feng

    2014-03-01

    Measurements of polarized radiation often reveal specific physical properties of emission sources, such as the strengths and orientations of magnetic fields offered by synchrotron radiation and Zeeman line emission, and the electron density distribution caused by free-free emission. Polarization-capable, millimeter/sub-millimeter telescopes are normally equipped with either septum polarizers or ortho-mode transducers (OMT) to detect polarized radiation. Though the septum polarizer is limited to a significantly narrower bandwidth than the OMT, it possesses advantageous features unparalleled by the OMT when it comes to determining astronomical polarization measurements. We design an extremely wide-band circular waveguide septum polarizer, covering 42% bandwidth, from 77 GHz to 118 GHz, without any undesired resonance, challenging the conventional bandwidth limit. Stokes parameters, constructed from the measured data between 77 GHz and 115 GHz, show that the leakage from I to Q and U is below ±2%, and the Q - U mutual leakage is below ±1%. Such a performance is comparable to other modern polarizers, but the bandwidth of this polarizer can be at least twice as wide. This extremely wide-band design removes the major weakness of the septum polarizer and opens up a new window for future astronomical polarization measurements.

  18. An approach to the nasal septum in children.

    PubMed

    Healy, G B

    1986-11-01

    Surgery of the nasal septum has long been discouraged in the pediatric population. Concerns about growth and development of the nose have led surgeons to adopt an extremely cautious attitude toward the correction of nasal septal deformities in childhood. More recently, studies have shown that with proper preservation of septal cartilage, surgery can be safely undertaken in this area. Frequently, however, exposure to the nasal septum is limited in small children due to the size of the nasal vestibule. Sublabial septoplasty has been safely carried out now in ten patients ranging in age from 4 to 9 years. This approach allows for complete access to the nasal septum while avoiding any external cosmetic deformity. The nasal septum has been preserved in all cases through morsalization and repositioning. Growth and development of the nose has been followed for up to 60 months without evidence of deformity or alteration. Sublabial septoplasty would, therefore, appear to be a safe and cosmetically acceptable approach to the correction of severe nasal septal deformities of childhood. PMID:3773624

  19. Severe lymphedema caused by repeated self-injury.

    PubMed

    Mihara, M; Hara, H; Murai, N; Todokoro, T; Iida, T; Narushima, M; Koshima, I

    2011-12-01

    Lymphedema is divided into primary and secondary forms. Primary lymphedema often develops in young people and may be caused by lymphvascular aplasia, hypoplasia, and hyperplasia. The most frequent cause of secondary lymphedema after lymphatic filariasis is regional lymph node dissection for treatment of a malignant tumor, and this complication occurs most frequently in middle aged or older patients. Here, we describe a relatively young patient (27 years old) in whom collecting lymph vessels in the upper limb were disrupted by repeated self-injury, with resultant lymphedema. There have been very few reports on lymphedema caused by self-induced trauma. This case report illustrates that secondary lymphedema should also be considered and evaluated appropriately when diagnosed in a relatively young patient without a history of cancer or infection. PMID:22458120

  20. Ameloblastoma of the Nasal Septum Origin: A Case Report

    PubMed Central

    Zatoński, Tomasz; Roszkowska, Anna; Kręcicki, Tomasz

    2013-01-01

    Background. Ameloblastoma is the most common odontogenic tumor. It represents about 1% of all tumors of the jaw. Extragnathic location of the ameloblastoma is typical and extremely rare. Case Report. We report a case of ameloblastoma of the nasal septum origin, causing nasal obstruction. According to our information, this is the first reported case of ameloblastoma coming from the nasal septum as a primary tumor without maxillary sinus involvement. Conclusions. Ameloblastoma can not only locate in the maxilla and mandible, but also in other regions of the craniofacial. Ameloblastoma should be considered in the differential diagnosis of tumors causing nasal obstruction. Nonspecific clinical features of sinonasal ameloblastoma make it extremely important to perform accurate diagnostic imaging and histopathological examination. PMID:24171127

  1. Hysteroscopic Transcervical Resection of Uterine Septum

    PubMed Central

    Shi, Xiaoyan; Hua, Xiangdong; Gu, Xiaoyan; Yang, Dazhen

    2013-01-01

    Objective: To explore the method of diagnosis for uterine septum and the clinical effect of hysteroscopic transcervical resection of the septum. Methods: One-hundred ninety cases of patients with uterine septum who were diagnosed and treated at our hospital during 2007–2011 were selected, and their general information, perioperative status, postoperative recovery treatment, and postoperative pregnancy rates were statistically analyzed. Results: All 190 patients were cured with one surgery, with an average hysteroscopic operating time of 22.60 ± 10.67 minutes and intraoperative blood loss of 15.74 ± 9.64 mL. There were no complications such as uterine perforation, water intoxication, infection, or heavy bleeding. Among the 115 patients that we followed up, 86 became pregnant and delivered infants, 81 of which were born at term and 5 that were born premature. Conclusion: The combination of hysteroscopy and laparoscopy is still the most reliable method for the diagnosis of uterine septum. With a shorter operative time, less blood loss, a significantly increased postoperative pregnancy rate and live birth rate, and a significantly lower spontaneous abortion rate, transcervical resection of the septum was the preferred method for the treatment of uterine septum, and surgical instruments and skills were critical to the prognosis of uterine septum. PMID:24398191

  2. Severe cochlear dysplasia causing recurrent meningitis: a surgical lesson.

    PubMed

    Stevenson, D S; Proops, D W; Phelps, P D

    1993-08-01

    Meningitis may be the sole presenting sign of a cerebrospinal fluid (CSF) fistula of the temporal bone. An eight-year-old boy suffering from recurrent meningitis was found to have bilateral severe cochlear dysplasia. Bilateral tympanotomies were performed, planning to obliterate each vestibule. In the right ear a stapedectomy was performed, resulting in a torrential 'CSF gusher' and difficulty in packing the vestibule. CSF rhinorrhoea requiring revision surgery and two episodes of gram-negative bacterial meningitis complicated the post-operative management, resulting in a prolonged hospital stay. Subsequently, the left ear was managed in a different fashion, leaving the stapes in situ, with grafts placed to seal the oval window niche. We would recommend this alternative procedure in cases of severe cochlear dysplasia, where abnormalities of the vestibule and basal turn of the cochlea mean that performing a stapedectomy to pack the vestibule may result in a severe 'CSF gusher', by opening directly into the subarachnoid space. PMID:8409727

  3. [Severed musculus rectus internus caused by a dog bite].

    PubMed

    Reese, P D; Judisch, G F

    1988-11-01

    A four-year-old girl sustained facial injuries from multiple dog bites. Although the globe exhibited slight adduction saccades the medial rectus muscle appeared to be intact when examined by computer tomography. However, on surgical exploration of the orbit the muscle parenchyma was found to have been completely severed. PMID:3210647

  4. Umbilical cyst due to patent urachus in a fetus with complete urorectal septum malformation sequence

    PubMed Central

    Kodandapani, Sreelakshmi; Shetty, Jyothi; Kumar, Pratap; Girisha, Katta M.

    2012-01-01

    Urorectal septum malformation sequence is a sporadic malformation due to failure of septation of primitive cloaca with no anal opening. Umbilical cyst can be associated with chromosomal aneuploidy such as trisomy 18 or trisomy 13. We report on a fetus with complete urorectal septum malformation sequence with an umbilical cyst resulting from a patent urachus and with meconium as its content. This report adds to the variety of the causes of umbilical cyst and the spectrum of consequences of urorectal septal defect.

  5. Gelsolin amyloid angiopathy causes severe disruption of the arterial wall.

    PubMed

    Koskelainen, Susanna; Pihlamaa, Tiia; Suominen, Sinikka; Zhao, Fang; Salo, Tuula; Risteli, Juha; Baumann, Marc; Kalimo, Hannu; Kiuru-Enari, Sari

    2016-08-01

    Hereditary gelsolin amyloidosis (HGA) is a dominantly inherited systemic disease reported worldwide. HGA is characterized by ophthalmological, neurological, and dermatological manifestations. AGel amyloid accumulates at basal lamina of epithelial and muscle cells, thus amyloid angiopathy is encountered in nearly every organ. HGA patients have cardiovascular, hemorrhagic, and potentially vascularly induced neurological problems. To clarify pathomechanisms of AGel angiopathy, we performed histological, immunohistochemical, and electron microscopic analyses on facial temporal artery branches from 8 HGA patients and 13 control subjects. We demonstrate major pathological changes in arteries: disruption of the tunica media, disorganization of vascular smooth muscle cells, and accumulation of AGel fibrils in arterial walls, where they associate with the lamina elastica interna, which becomes fragmented and diminished. We also provide evidence of abnormal accumulation and localization of collagen types I and III and an increase of collagen type I degradation product in the tunica media. Vascular smooth muscle cells appear to be morphologically and semi-quantitatively normal, only their basal lamina is often thickened. In conclusion, angiopathy in HGA results in severe disruption of arterial walls, characterized by prominent AGel deposition, collagen derangement and severe elastolysis, and it may be responsible for several, particularly hemorrhagic, disease manifestations in HGA. PMID:27198069

  6. Two new severe mutations causing guanidinoacetate methyltransferase deficiency.

    PubMed

    Carducci, C; Leuzzi, V; Carducci, C; Prudente, S; Mercuri, L; Antonozzi, I

    2000-12-01

    Primary disorders of creatine metabolism have been only recently described. We report new molecular and biochemical findings obtained from a child affected by guanidinoacetate methyltransferase deficiency. This patient presented with neurological regression, epilepsy, and a movement disorder during the first year of life. HPLC analysis showed high concentrations of guanidinoacetic acid in urine, plasma, and CSF. Molecular analyses of cDNA and genomic DNA revealed two novel mutations, a G insertion following nucleotide 491 of the cDNA (c.491insG) in exon 5 and a transversion at nt -3 in intron 5 (IVS5-3C>G). The c.491insG mutation causes a frameshift and a premature stop codon at the end of the exon. The IVS5-3C>G mutation prevents the splicing of the last exon of the gene precluding the complete maturation of the transcript and, most likely, causes rapid degradation of the mRNA. PMID:11136556

  7. A cause of severe thigh injury: Battery explosion

    PubMed Central

    Görgülü, Tahsin; Torun, Merve; Olgun, Abdulkerim

    2015-01-01

    Introduction In parallel with technological improvements, humankind encounter with equipments/devices transforming chemical energy to electrical energy. Especially automobile batteries, watch and mobile phone batteries are the most encountered ones. In the literature, there are mainly facial burn cases due to mobile phone battery explosion. On the other hand very few examples of serious lower limb. injury is present. Presentation of case 12-year-old female patient referred to emergency room with skin and soft tissue injuries on bilateral anteromedial thigh area as a result of battery explosion. The widest axis of skin defect was approximately 16 × 8 cm on the right side, and 17 × 4 cm on the left side. In addition, there were tattooing caused by chemical injury and multiple pin-point like lesions extending to dermal level on anterior region of thigh. Chemically dirty and necrotized dermal and subdermal tissues were debrided and foreign materials were removed from regions with multiple tattooing. Left thigh was closed primarily. In order to close the defect on right anterior thigh, skin flap from right medial thigh is advanced in Y–V fashion. Discussion Battery explosion causing lower extremity tissue defect is a type of injury that is rarely seen in the literature. Regardless of battery size and energy level, they should be considered as potential explosive material and protector masks, clothing should be worn during contact with this type of material. PMID:26862395

  8. [Bartter syndrome--a rare cause of severe polyhydramnios].

    PubMed

    Media, Jean; Hoseth, Gerd Eva

    2006-12-11

    We report a case of a 25-year-old woman, gravida II, Para I, in pregnancy week 26 + 4 with severe polyhydramnios. The amniotic fluid index was about 39. Type 2 scanning showed a large urinary bladder only. Treated in pregnancy with repeated aminodrinage, total 21 litres. In week 33 + 5, a Caesarean section was performed. A girl with Apgar score 10/1, 0/10 was born, weight 1,804 grammes. Immediately after birth the child developed polyuria with diuresis, about 8-10 ml/kg/hour, electrolyte disturbance, and vomiting, treated with Losec, Gaviscon, indometacin, and Vioxx. The diagnosis was Bartter syndrome. PMID:17217871

  9. Severe hepatoxicity caused by aspirin overdose: a case report.

    PubMed

    Cao, Zhuping; Liu, Shiqi; Niu, Jianhua; Wei, Bing; Xu, Jie

    2015-09-01

    We report here the rare case of a 61-year-old man with multiple organ dysfunction caused by an aspirin overdose (4 g orally). The patient presented with a fever that reached 39.2 °C, a peptic ulcer, and massive upper gastrointestinal bleeding. His blood test results were as follows: white blood cell count, 1.8 × 10(9)/L; absolute lymphocytes, 0.4 × 10(9)/L; absolute neutrophils, 1.2 × 10(9)/L; and electrolyte disturbances. A computed tomography (CT) scan showed evidence of bilateral inferior pulmonary infection and acute pancreatitis. Thick dark bile with visible floccule was drawn via a percutaneous transhepatic cholangiodrainage (PTCD). Klebsiella pneumoniae was detected in microbiological bile tests. Two years later, the patient died of chronic liver failure. PMID:26085469

  10. Seawater Immersion Aggravates Burn Injury Causing Severe Blood Coagulation Dysfunction

    PubMed Central

    Yan, Hong; Mao, Qingxiang; Ma, Yongda; Wang, Li; Chen, Xian; Hu, Yi; Ge, Hengjiang

    2016-01-01

    This study aimed to investigate the endothelial function in a canine model of burn injury combined with seawater immersion. The model of burn injury was established. The dogs were randomly divided into four groups including dogs with burn injury (B group), or burn injury combined with seawater immersion (BI group), or only immersion in seawater (I group), or control animals with no injury or immersion (C group). The circulating endothelial cell (CEC) count and coagulation-fibrinolysis parameters were measured. The CEC count in B group increased at 4 h, 7 h, and 10 h after injury and then reduced, whereas it continuously increased to a greater extent in BI group (P < 0.05). The von Willebrand factor (vWF) activity, plasminogen activator inhibitor (PAI-1), and the ratio of thromboxane B2 (TXB2) to 6-keto-prostaglandin F1α (6-K-PGF1α) in BI group had a marked increase after injury, and the tissue-type plasminogen activator (tPA) in the BI group decreased. Microscope observations revealed thrombus formation in lungs of the animals in BI group, but not in C, I, or B groups. Burn injury causes endothelial dysfunction, and seawater immersion lastingly aggravates this injury, leading to a higher risk of developing thrombosis. PMID:26885523

  11. Novel recessive myotilin mutation causes severe myofibrillar myopathy.

    PubMed

    Schessl, Joachim; Bach, Elisa; Rost, Simone; Feldkirchner, Sarah; Kubny, Christiana; Müller, Stefan; Hanisch, Franz-Georg; Kress, Wolfram; Schoser, Benedikt

    2014-08-01

    We identified the first homozygous and hence recessive mutation in the myotilin gene (MYOT) in a family affected by a severe myofibrillar myopathy (MFM). MFM is a rare, progressive and devastating disease of human skeletal muscle with distinct histopathological pattern of protein aggregates and myofibrillar degeneration. So far, only heterozygous missense mutations in MYOT have been associated with autosomal dominant myofibrillar myopathy, limb-girdle muscular dystrophy type 1A and distal myopathy. Myotilin itself is highly expressed in skeletal and cardiac muscle and is localized at the Z-disc and therefore interacts in sarcomere assembly. We performed whole-exome sequencing in a German family clinically diagnosed with MFM and identified a homozygous mutation in exon 2, c.16C > G (p.Arg6Gly). Using laser microdissection followed by quantitative mass spectrometry, we identified the myotilin protein as one component showing the highest increased abundance in the aggregates in the index patient. We suggest that the combined approach has a high potential as a new tool for the confirmation of unclassified variants which are found in whole-exome sequencing approaches. PMID:24928145

  12. Congenital urethrovaginal fistula with transverse vaginal septum.

    PubMed

    Amer, Mohamed Ibrahim; Ahmed, Mortada El-Sayed; Ali, Ali Hagag

    2016-08-01

    Congenital urethrovaginal fistula is an extremely rare genitourinary anomaly. Literature search identified only five reported cases, all of which were associated with urogenital abnormalities. Transverse vaginal septum is another rare condition, resulting from abnormalities in the vertical fusion between the vaginal components of the Mullerian ducts and the urogenital sinus; and associated fistulous connection of the vagina with the urethra is even rarer. Herein we describe the case of a 35-year-old woman who presented with dyspareunia, and a 1-year history of infertility, who was found to have a urethrovaginal fistula with low transverse vaginal septum. The patient was successfully treated with excision of the septum and closure of the urethrovaginal fistula. PMID:27170419

  13. Surgery of the nasal septum and turbinates

    PubMed Central

    Matthias, Christoph

    2008-01-01

    The following article presents nasal septum and turbinate surgery. First an overview with special consideration of the anatomical and physiological background is given followed by indications for surgical procedures. Key steps of the gold standard procedure first described by Cottle and common variations are presented. Furthermore, some techniques dealing with special problems of the septumplasty are discussed followed by an overview on complications and long term results. However, it should be mentioned that studies on surgical procedures of the nasal septum are still not sufficient as higher evidence levels are very rare. Within a separated chapter techniques for closure of septum perforations are presented and indications particularly in the background of the standard procedure of bridge flaps forwarded by Schultz-Coulon are discussed. The second part focusses on turbinate surgery. Accordingly, anatomical and physiological basics are presented followed by indications for surgical procedures and the surgical steps of different procedures as well as postsurgical treatment and long term results. PMID:22073086

  14. Advanced laparoscopic surgery for the removal of rectovaginal septum endometriotic or adenomyotic nodules.

    PubMed

    Donnez, J; Nisolle, M

    1995-12-01

    In the pelvis, three different forms of endometriosis (Donnez et al, 1992) must be considered: (1) peritoneal, (2) ovarian, (3) rectovaginal septum. By evaluation of the mitotic activity and the stromal vascularization, we have recently suggested (Nisolle et al, 1993) that peritoneal red lesions were the most aggressive form of the disease and progress to the so-called typical or black lesion, which must be considered as an enclosed implant surrounded by fibrosis. This type of infiltration must be clearly differentiated from the rectovaginal endometriotic nodule. Koninckx (1993) recently described three types of deep-infiltrating endometriosis: deep-infiltrating endometriosis of type I is a rather large lesion in the peritoneal cavity, infiltrating conically with the deeper parts becoming progressively smaller. It has been suggested that this type of endometriosis is caused by infiltration. In type II lesions, the main feature is that bowel is retracted over the lesion which thus becomes deeply situated in the rectovaginal septum although not actually infiltrating it. Type III lesions are the deepest and most severe. They are spherically shaped, situated deep in the rectovaginal septum, often only visible as a small typical lesion at laparoscopy or often not visible at all. This lesion is often more palpable than visible and is acutely tender if the patient is examined at the time of menstruation, and gives rise to severe dyspareunia. In our experience there are two different types of 'deep-infiltrating endometriosis': 1. True deep-infiltrating endometriosis caused by the invasion of a very active peritoneal lesion deep in the retroperitoneal space. In cases of lateral peritoneal invasion, uterosacral ligaments can be involved as well as the anterior wall of the rectosigmoid bowel junction resulting in a retraction, adhesions and secondary obliteration of the cul-de-sac. 2. Pseudo deep-infiltrating endometriosis or adenomyosis of the rectovaginal septum. This

  15. Septal stapler use during septum surgery.

    PubMed

    Yildirim, Güven; Cingi, Cemal; Kaya, Ercan

    2013-03-01

    Although discussions regarding nasal packing are still ongoing, to eliminate any possible complications, surgeons have used nasal packing for many years. Septoplasty is one of the most frequently performed operations by head and neck surgeons. Any methods to diminish the surgical time or bring comfort to the surgeon will be well appreciated. In this study, we attempted to demonstrate the usefulness of the stapler method by comparing preoperative and postoperative results from the visual analog scale (VAS), nasal obstruction symptom evaluation (NOSE), rhinosinusitis quality of life questionnaire (RQLQ), and acoustic rhinomanometry values. In addition, we evaluated pain scores, postoperative complications, and breathing after nasal packing, stapling, and trans-septal suturing techniques. Patients were divided into three groups. In the first group, deviated cartilage was removed or repositioned and mucoperichondrial flaps were closed with a bioresorbable stapler after septoplasty. Four or five staples were placed on the septum. In the second group, the septum was sutured continuously with 4/0 Pegelak (Doğsan TR). In the third group, Merocel packs were used without any sutures and were kept for 48 h. Nasal packing leads to patient discomfort after septal surgery; however, there is no difference in patient comfort between closing the mucoperichondrial flaps by suturing the septum or using a stapler. After surgery, there were no differences between the groups in terms of successful breathing. This situation was assessed by endoscopic examination and acoustic rhinomanometry. Thus, there was no objective or subjective difference. Stapling increases the doctor's comfort level and surgical time is optimized. Although experienced surgeons can easily suture the septum, less experienced ones have some difficulty; therefore, stapling may provide more benefit to the latter. Further, four staples are sufficient to close the septum. PMID:22926990

  16. The cdc7 protein kinase is a dosage dependent regulator of septum formation in fission yeast.

    PubMed Central

    Fankhauser, C; Simanis, V

    1994-01-01

    Mutation of the Schizosaccharomyces pombe cdc7 gene prevents formation of the division septum and cytokinesis. We have cloned the cdc7 gene and show that it encodes a protein kinase which is essential for cell division. In the absence of cdc7 function, spore germination, DNA synthesis and mitosis are unaffected, but cells are unable to initiate formation of the division septum. Overexpression of p120cdc7 causes cell cycle arrest; cells complete mitosis and then undergo multiple rounds of septum formation without cell cleavage. This phenotype, which is similar to that resulting from inactivation of cdc16 protein, requires the kinase activity of p120cdc7. Mutations inactivating the early septation gene, cdc11, suppress the formation of multiple septa and allow cells to proliferate normally. If formation of the division septum is prevented by inactivation of either cdc14 or cdc15, p120cdc7 overproduction does not interfere with other events in the mitotic cell cycle. Septation is not induced by overexpression of p120cdc7 in G2 arrested cells, indicating that it does not bypass the normal dependency of septation upon initiation of mitosis. These findings indicate that the p120cdc7 protein kinase plays a key role in initiation of septum formation and cytokinesis in fission yeast and suggest that p120cdc7 interacts with the cdc11 protein in the control of septation. Images PMID:8039497

  17. Cavum Septum Pellucidum in Retired American Pro-Football Players.

    PubMed

    Gardner, Raquel C; Hess, Christopher P; Brus-Ramer, Marcel; Possin, Katherine L; Cohn-Sheehy, Brendan I; Kramer, Joel H; Berger, Mitchel S; Yaffe, Kristine; Miller, Bruce; Rabinovici, Gil D

    2016-01-01

    Previous studies report that cavum septum pellucidum (CSP) is frequent among athletes with a history of repeated traumatic brain injury (TBI), such as boxers. Few studies of CSP in athletes, however, have assessed detailed features of the septum pellucidum in a case-control fashion. This is important because prevalence of CSP in the general population varies widely (2% to 85%) between studies. Further, rates of CSP among American pro-football players have not been described previously. We sought to characterize MRI features of the septum pellucidum in a series of retired pro-football players with a history of repeated concussive/subconcussive head traumas compared with controls. We retrospectively assessed retired American pro-football players presenting to our memory clinic with cognitive/behavioral symptoms in whom structural MRI was available with slice thickness ≤2 mm (n=17). Each player was matched to a memory clinic control patient with no history of TBI. Scans were interpreted by raters blinded to clinical information and TBI/football history, who measured CSP grade (0-absent, 1-equivocal, 2-mild, 3-moderate, 4-severe) and length according to a standard protocol. Sixteen of 17 (94%) players had a CSP graded ≥2 compared with 3 of 17 (18%) controls. CSP was significantly higher grade (p<0.001) and longer in players than controls (mean length±standard deviation: 10.6 mm±5.4 vs. 1.1 mm±1.3, p<0.001). Among patients presenting to a memory clinic, long high-grade CSP was more frequent in retired pro-football players compared with patients without a history of TBI. PMID:25970145

  18. Performance improvement of an extraction Lambertson septum magnet in the SNS accumulator ring

    SciTech Connect

    Wang, Jian-Guang

    2009-04-01

    The SNS ring Extraction Lambertson Septum magnet contains a strong skew quadrupole term, which has been identified as the source of causing a beam profile distortion on the target. We have performed 3D computer simulations to study the magnetic field quality in the magnet. The skew quad term is computed with different methods in simulations and is compared to measurement data. The origin of the large skew quad term is thoroughly investigated. The remedy for minimizing the skew quad term by modifying the magnet is proposed. Particle tracking is performed to verify the beam profile evolution through the existing and modified septum. The magnetic interference to the septum performance from an adjacent quadrupole is also assessed.

  19. A Rare Cause of Retinal Artery Occlusion in Severe Hypernatremic Dehydration in Newborns.

    PubMed

    Ozer, Pinar Altiaylik; Kabatas, Emrah Utku; Kurtul, Bengi Ece; Dilli, Dilek; Zenciroglu, Aysegul; Okumus, Nurullah

    2016-05-01

    Neonatal hypernatremia is an important electrolyte disorder that may have serious complications. It may be a rare and underdiagnosed cause of venous and arterial thrombosis, leading to severe brain damage by cerebral edema and intracranial hemorrhage. Here, the authors present a case of bilateral central retinal artery occlusion in a newborn with severe hypernatremic dehydration who is found to be normal in terms of other causes of retinal arterial thromboembolization. [Ophthalmic Surg Lasers Imaging Retina. 2016;47:482-485.]. PMID:27183555

  20. Nasal septum injury in preterm infants using nasal prongs 1

    PubMed Central

    Bonfim, Suely de Fátima Santos Freire; de Vasconcelos, Maria Gorete Lucena; de Sousa, Nayara Francisca Cabral; da Silva, Daiana Vieira Câmara; Leal, Luciana Pedrosa

    2014-01-01

    OBJECTIVE: to assess the incidence and risk factors associated with nasal septum injury in premature infants using reused and new nasal prongs. METHOD: the study was a cohort from an open therapeutic intervention. The sample included 70 infants with a gestational age inferior to 37 weeks, who used nasal prongs and were hospitalized at the neonatal service of a hospital in Recife-PE, in the Northeast of Brazil. The data were collected in patient files through the assessment of the application of the device and of the nasal septum. Multinomial Logistic Regression and Survival analyses were applied. RESULTS: the incidence of nasal injury corresponded to 62.9%. In the multiple analysis, only the length of the infant's treatment was a determinant factor for the occurrence and severity of the injuries. CONCLUSION: the type of nasal prong does not serve as a risk factor for the nasal injury. The high incidence of nasal injury indicates the need to adapt the nursing care with emphasis on prevention. PMID:25493679

  1. A strain of Clover yellow vein virus that causes severe pod necrosis disease in snap bean

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Since 2000, the soybean aphid (Aphis glycines) has been associated with severe virus epidemics in snap bean (Phaseolus vulgaris) in the upper Midwestern states, New York, and Ontario, Canada. The causal agent of a disease causing severe mosaic, apical necrosis stunting and extensive pod necrosis wa...

  2. A Case of Fetal Intestinal Volvulus Without Malrotation Causing Severe Anemia

    PubMed Central

    Nakagawa, Tomoko; Tachibana, Daisuke; Kitada, Kohei; Kurihara, Yasushi; Terada, Hiroyuki; Koyama, Masayasu; Sakae, Yukari; Morotomi, Yoshiki; Nomura, Shiho; Saito, Mika

    2015-01-01

    Fetal intestinal volvulus without malrotation is a rare, life-threatening disease. Left untreated, hemorrhage from necrotic bowel tissue will lead to severe fetal anemia and even intrauterine death. We encountered a case of fetal intestinal volvulus causing severe anemia, which was diagnosed postnatally and successfully treated with surgical intervention. PMID:25628516

  3. Streptoccocus pyogenes: a forgotten cause of severe community-acquired pneumonia.

    PubMed

    Birch, C; Gowardman, J

    2000-02-01

    We report a case of severe community-acquired pneumonia caused by Streptococcus pyogenes (Lancefield Group A streptoccocus) that was complicated by a streptococcal toxic shock syndrome. Although this micro-organism is an uncommon cause of community-acquired pneumonia, previously well individuals may be infected and the clinical course may be fulminant. A household contact was the likely point of infection. Invasive group A streptococcal disease continues to remain an important cause of morbidity and mortality in the community and therefore will continue to be encountered by intensive care physicians. Treatment of Group A streptococcal infection remains penicillin; however, clindamycin should be added in severe infection. PMID:10701045

  4. Do Low Molecular Weight Agents Cause More Severe Asthma than High Molecular Weight Agents?

    PubMed Central

    Meca, Olga; Cruz, María-Jesús; Sánchez-Ortiz, Mónica; González-Barcala, Francisco-Javier; Ojanguren, Iñigo; Munoz, Xavier

    2016-01-01

    Introduction The aim of this study was to analyse whether patients with occupational asthma (OA) caused by low molecular weight (LMW) agents differed from patients with OA caused by high molecular weight (HMW) with regard to risk factors, asthma presentation and severity, and response to various diagnostic tests. Methods Seventy-eight patients with OA diagnosed by positive specific inhalation challenge (SIC) were included. Anthropometric characteristics, atopic status, occupation, latency periods, asthma severity according to the Global Initiative for Asthma (GINA) control classification, lung function tests and SIC results were analysed. Results OA was induced by an HMW agent in 23 patients (29%) and by an LMW agent in 55 (71%). A logistic regression analysis confirmed that patients with OA caused by LMW agents had a significantly higher risk of severity according to the GINA classification after adjusting for potential confounders (OR = 3.579, 95% CI 1.136–11.280; p = 0.029). During the SIC, most patients with OA caused by HMW agents presented an early reaction (82%), while in patients with OA caused by LMW agents the response was mainly late (73%) (p = 0.0001). Similarly, patients with OA caused by LMW agents experienced a greater degree of bronchial hyperresponsiveness, measured as the difference in the methacholine dose-response ratio (DRR) before and after SIC (1.77, range 0–16), compared with patients with OA caused by HMW agents (0.87, range 0–72), (p = 0.024). Conclusions OA caused by LMW agents may be more severe than that caused by HMW agents. The severity of the condition may be determined by the different mechanisms of action of these agents. PMID:27280473

  5. Monitoring Chitin Deposition During Septum Assembly in Budding Yeast.

    PubMed

    Arcones, Irene; Roncero, Cesar

    2016-01-01

    The synthesis of the septum is a critical step during cytokinesis in the fungal cell. Moreover, in Saccharomyces cerevisiae septum assembly depends mostly on the proper synthesis and deposition of chitin and, accordingly, on the timely regulation of chitin synthases. In this chapter, we will see how to follow chitin synthesis by two complementary approaches: monitoring chitin deposition in vivo at the septum by calcofluor staining and fluorescence microscopy, and measuring the chitin synthase activities responsible for this synthesis. PMID:26519305

  6. Acute liver injury with severe coagulopathy in marasmus caused by a somatic delusional disorder.

    PubMed

    Stein, Lance L; Jesudian, Arun B

    2011-01-01

    Marasmus is a severe form of protein-calorie malnutrition characterized by the depletion of fat stores, muscle wasting, and the lack of edema. In developed countries, marasmus is often the result of anorexia nervosa. Abnormal transaminases with liver synthetic dysfunction have rarely been reported with anorexia nervosa. To our knowledge, we report the first detailed case of acute liver injury with severe coagulopathy (INR > 1.5) in a patient with marasmus due to self-induced calorie restriction caused by a somatic delusional disorder. This case highlights the severity of liver injury that may occur with significant weight loss from self-induced calorie restriction and the rapid normalization of this injury with treatment. It is important for clinicians to be aware of patterns of acute liver injury in patients with severe protein-calorie malnutrition, regardless of the underlying cause. PMID:25954537

  7. Ischaemic stroke with intact atrial septum--exclude arteriovenous malformations.

    PubMed

    Doering, Friederike; Eicken, Andreas; Hess, John

    2014-02-01

    A 44-year-old woman was referred to our centre for interventional cardiac catheterisation. The diagnostic work-up after a preceding ischaemic stroke led to the assumption of a patent foramen ovale due to a positive bubble study. Before the planned percutaneous closure of the patent foramen ovale, we performed a second bubble study, which showed an intact atrial septum. However, after two to three heart cycles bubbles could be detected in the left atrium, assuming a right-to-left shunt of an extracardiac origin most likely in the lung. We therefore performed cardiac catheterisation, yielding a pulmonary arteriovenous malformation in the lower lobe of the right lung. This was successfully closed interventionally by placing a Cook coil, as well as several plugs into the malformation and feeding vessels. PMID:23347820

  8. Pneumocephalus in Child Following Bilateral Otomastoiditis and Nasal Septum Infection.

    PubMed

    Soni, Jai Prakash; Choudhary, Sandeep; Makwana, Mohan; Tripathi, Nikita

    2016-07-01

    Pneumocephalus is collection of gas or air within the cranial cavity, commonly associated with trauma, cranial surgery, air embolism, open meningomyelocele; and rarely as a result of central nervous system infections. Asymptomatic pneumocephalus usually recovers spontaneously within few days. Untreated pneumocephalus can progress to tension pneumocephalus, manifesting as severe headache, dizziness, cranial nerve palsy, mental changes, seizure and disorientation. Herein, we report a rare case of pneumocephalus in a 9-month infant with subdural effusion following infection of nasal septum and otomastoiditis. There was no sign of meningitis but CThead showed communication of intracranial dura mater across widened foramen caecum with pre-nasal space, and bilateral otomastoiditis with erosion of anterior and lateral wall of right mastoid bone. The patient was treated successfully and discharged without sequelae. PMID:27504559

  9. Frequency, severity and causes of unexpected allergic reactions to food: a systematic literature review.

    PubMed

    Versluis, A; Knulst, A C; Kruizinga, A G; Michelsen, A; Houben, G F; Baumert, J L; van Os-Medendorp, H

    2015-02-01

    Food allergic patients have to deal with an avoidance diet. Confusing labelling terms or precautionary labels can result in misinterpretation and risk-taking behaviour. Even those patients that strictly adhere to their diet experience (sometimes severe) unexpected allergic reactions to food. The frequency, severity and causes of such reactions are unknown. The objective of this review was to describe the frequency, severity and causes of unexpected allergic reactions to food in food allergic patients aged > 12 years, in order to develop improved strategies to deal with their allergy. A systematic review was carried out by two researchers, in six electronic databases (CINAHL, Cochrane, EMBASE, Medline, Psychinfo and Scopus). The search was performed with keywords relating to the frequency, severity and causes of unexpected allergic reactions to food. This resulted in 24 studies which met the inclusion criteria; 18 observational and six qualitative studies. This review shows that knowledge about the frequency of unexpected reactions is limited. Peanut, nuts, egg, fruit/vegetables and milk are the main causal foods. Severe reactions and even fatalities occur. Most reactions take place at home, but a significant number also take place when eating at friends' houses or in restaurants. Labelling issues, but also attitude and risky behaviour of patients can attribute to unexpected reactions. We conclude that prospective studies are needed to get more insight in the frequency, severity, quantity of unintended allergen ingested and causes of unexpected allergic reactions to food, to be able to optimize strategies to support patients in dealing with their food allergy. Although the exact frequency is not known, unexpected reactions to food occur in a significant number of patients and can be severe. For clinical practice, this means that patient education and dietary instructions are necessary. PMID:24766413

  10. DESIGN OF BEAM-EXTRACTION SEPTUM MAGNET FOR THE SNS.

    SciTech Connect

    TSOUPAS,N.; LEE,Y.Y.; RANK,J.; TUOZZOLO,J.

    2001-06-18

    The beam-extraction process from the SNS accumulator ring [1,2] requires a Lambertson septum magnet. In this paper we discuss the geometrical and magnetic field requirements of the magnet and present results obtained from two and three dimensional magnetic field calculations that shows the field quality in the regions of interest of the septum magnet.

  11. Nonlinear excited waves on the interventricular septum

    NASA Astrophysics Data System (ADS)

    Bekki, Naoaki; Harada, Yoshifumi; Kanai, Hiroshi

    2012-11-01

    Using a novel ultrasonic noninvasive imaging method, we observe some phase singularities in propagating excited waves on a human cardiac interventricular septum (IVS) for a healthy young male. We present a possible physical model explaining one-dimensional dynamics of phase singularities in nonlinearly excited waves on the IVS. We show that at least one of the observed phase singularities in the excited waves on the IVS can be explained by the Bekki-Nozaki hole solution of the complex Ginzburg-Landau equation without any adjustable parameters. We conclude that the complex Ginzburg-Landau equation is such a suitable model for one-dimensional dynamics of cardiac phase singularities in nonlinearly excited waves on the IVS.

  12. Medial septum regulates the hippocampal spatial representation

    PubMed Central

    Mamad, Omar; McNamara, Harold M.; Reilly, Richard B.; Tsanov, Marian

    2015-01-01

    The hippocampal circuitry undergoes attentional modulation by the cholinergic medial septum. However, it is unclear how septal activation regulates the spatial properties of hippocampal neurons. We investigated here what is the functional effect of selective-cholinergic and non-selective septal stimulation on septo-hippocampal system. We show for the first time selective activation of cholinergic cells and their differential network effect in medial septum of freely-behaving transgenic rats. Our data show that depolarization of cholinergic septal neurons evokes frequency-dependent response from the non-cholinergic septal neurons and hippocampal interneurons. Our findings provide vital evidence that cholinergic effect on septo-hippocampal axis is behavior-dependent. During the active behavioral state the activation of septal cholinergic projections is insufficient to evoke significant change in the spiking of the hippocampal neurons. The efficiency of septo-hippocampal processing during active exploration relates to the firing patterns of the non-cholinergic theta-bursting cells. Non-selective septal theta-burst stimulation resets the spiking of hippocampal theta cells, increases theta synchronization, entrains the spiking of hippocampal place cells, and tunes the spatial properties in a timing-dependent manner. The spatial properties are augmented only when the stimulation is applied in the periphery of the place field or 400–650 ms before the animals approached the center of the field. In summary, our data show that selective cholinergic activation triggers a robust network effect in the septo-hippocampal system during inactive behavioral state, whereas the non-cholinergic septal activation regulates hippocampal functional properties during explorative behavior. Together, our findings uncover fast septal modulation on hippocampal network and reveal how septal inputs up-regulate and down-regulate the encoding of spatial representation. PMID:26175674

  13. Osteogenesis imperfecta caused by PPIB mutation with severe phenotype and congenital hearing loss

    PubMed Central

    Rush, Eric T.; Caldwell, Kathleen S.; Kreikemeier, Rose M.; Lutz, Richard E.; Esposito, Paul W.

    2014-01-01

    Osteogenesis imperfecta (OI) is an inherited disorder of connective tissue typically caused by defects in either COL1A1 or COL1A2. A number of other genes causative of this disorder have been found, including PPIB, which forms one subunit of the prolyl 3-hydroxylase enzyme complex. Patients with homozygous or compound heterozygous mutations in this gene have OI with a trend toward lethal or severe phenotype. We present a Native American female with prenatal diagnosis of OI. Long bones were shortened with significant rhizomelia. At birth, fractures were present in ribs, humerii, and femurs. She had significant respiratory disease at birth, and required oxygen throughout her life. She also had recurrent pneumonias, one of which ultimately caused her death at age 16 mo. She also had significant bilateral sensorineural hearing loss. Molecular testing showed that the patient was homozygous for a single nucleotide substitution in PPIB (c. 136-2A>G). Patients with OI caused by PPIB mutations have had variable disease, but with majority of either with perinatal lethality or progressively deforming severe disease. Patients with OI due to PPIB mutation have shown some differences in phenotype. There appears to be a trend toward rhizomelic shortening and less severe bowing of the extremities, as compared to patients with comparably severe OI caused by COL1A1 or COL1A2 mutation. Congenital hearing loss may be an inconsistent feature of this condition, or may have co-occurred in our patient for unrelated reasons. Still, patients with OI caused by PPIB mutation should have appropriate early and regular management of their hearing.

  14. Causes and anatomical site of blindness and severe visual loss in Isfahan, Islamic Republic of Iran.

    PubMed

    Dehghan, A; Kianersi, F; Moazam, E; Ghanbari, H

    2010-02-01

    This study in 2005 evaluated the causes and major anatomical site of blindness and severe visual loss at a school for blind children in Isfahan province, Islamic Republic of Iran. All 211 students were examined according to the modified WHO/PBL eye examination record: 70.4% were blind, 24.3% had severe visual loss and 5.3% were visually impaired. The major causes of abnormality were hereditary factors (42.7%), prenatal/neonatal (18.5%) and unknown etiology (35.5%). The main sites of abnormality were the retina (62.6%), whole globe (17.5%), lens (7.1%) and optic nerve (7.1%). A high proportion of parents were in a consanguineous marriage (49.2%). The pattern of blindness in Isfahan encompasses characteristics of both developed and developing countries. PMID:20799580

  15. Duodenal diverticulum associated with annular pancreas: a rare cause of severe cholangitis.

    PubMed

    Ben Ameur, H; Boujelbene, S; Affes, N; Ghorbel, A; Beyrouti, M I

    2011-06-01

    Duodenal diverticulum is a common occurrence but most are asymptomatic. However, in some cases, they can cause mechanical biliary compression. We report the case of a duodenal diverticulum in a 64-year-old woman revealed by severe cholangitis with septic shock and a liver abscess. Associated annular pancreas was found. We discuss the various investigations to diagnose these two entities as well as the therapeutic strategy in this unique combination of disease. PMID:21715238

  16. Recurrent Acute Decompensated Heart Failure Owing to Severe Iron Deficiency Anemia Caused by Inappropriate Habitual Bloodletting

    PubMed Central

    Lim, Woo-Hyun; Kim, Hack-Lyoung; Kim, Ki-Hwan; Na, Sang Hoon; Lee, Hyun-Jung; Kang, Eun Gyu; Seo, Jae-Bin; Chung, Woo-Young; Zo, Joo-Hee; Hong, Jung Ae; Kim, Kwangyoun; Kim, Myung-A

    2015-01-01

    A 68-year-old woman visited the emergency department twice with symptoms of acute heart failure including shortness of breath, general weakness, and abdominal distension. Laboratory findings showed extremely low level of serum hemoglobin at 1.4 g/dL. Echocardiographic examination demonstrated dilated left ventricular cavity with systolic dysfunction and moderate amount of pericardial effusion. In this patient, acute heart failure due to severe iron deficiency anemia was caused by inappropriate habitual bloodletting. PMID:26755934

  17. Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia.

    PubMed

    Schumacher, Frances-Rose; Siew, Keith; Zhang, Jinwei; Johnson, Clare; Wood, Nicola; Cleary, Sarah E; Al Maskari, Raya S; Ferryman, James T; Hardege, Iris; Yasmin; Figg, Nichola L; Enchev, Radoslav; Knebel, Axel; O'Shaughnessy, Kevin M; Kurz, Thimo

    2015-10-01

    Deletion of exon 9 from Cullin-3 (CUL3, residues 403-459: CUL3(Δ403-459)) causes pseudohypoaldosteronism type IIE (PHA2E), a severe form of familial hyperkalaemia and hypertension (FHHt). CUL3 binds the RING protein RBX1 and various substrate adaptors to form Cullin-RING-ubiquitin-ligase complexes. Bound to KLHL3, CUL3-RBX1 ubiquitylates WNK kinases, promoting their ubiquitin-mediated proteasomal degradation. Since WNK kinases activate Na/Cl co-transporters to promote salt retention, CUL3 regulates blood pressure. Mutations in both KLHL3 and WNK kinases cause PHA2 by disrupting Cullin-RING-ligase formation. We report here that the PHA2E mutant, CUL3(Δ403-459), is severely compromised in its ability to ubiquitylate WNKs, possibly due to altered structural flexibility. Instead, CUL3(Δ403-459) auto-ubiquitylates and loses interaction with two important Cullin regulators: the COP9-signalosome and CAND1. A novel knock-in mouse model of CUL3(WT) (/Δ403-459) closely recapitulates the human PHA2E phenotype. These mice also show changes in the arterial pulse waveform, suggesting a vascular contribution to their hypertension not reported in previous FHHt models. These findings may explain the severity of the FHHt phenotype caused by CUL3 mutations compared to those reported in KLHL3 or WNK kinases. PMID:26286618

  18. Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia

    PubMed Central

    Schumacher, Frances-Rose; Siew, Keith; Zhang, Jinwei; Johnson, Clare; Wood, Nicola; Cleary, Sarah E; Al Maskari, Raya S; Ferryman, James T; Hardege, Iris; Figg, Nichola L; Enchev, Radoslav; Knebel, Axel; O’Shaughnessy, Kevin M; Kurz, Thimo

    2015-01-01

    Deletion of exon 9 from Cullin-3 (CUL3, residues 403–459: CUL3Δ403–459) causes pseudohypoaldosteronism type IIE (PHA2E), a severe form of familial hyperkalaemia and hypertension (FHHt). CUL3 binds the RING protein RBX1 and various substrate adaptors to form Cullin-RING-ubiquitin-ligase complexes. Bound to KLHL3, CUL3-RBX1 ubiquitylates WNK kinases, promoting their ubiquitin-mediated proteasomal degradation. Since WNK kinases activate Na/Cl co-transporters to promote salt retention, CUL3 regulates blood pressure. Mutations in both KLHL3 and WNK kinases cause PHA2 by disrupting Cullin-RING-ligase formation. We report here that the PHA2E mutant, CUL3Δ403–459, is severely compromised in its ability to ubiquitylate WNKs, possibly due to altered structural flexibility. Instead, CUL3Δ403–459 auto-ubiquitylates and loses interaction with two important Cullin regulators: the COP9-signalosome and CAND1. A novel knock-in mouse model of CUL3WT/Δ403–459 closely recapitulates the human PHA2E phenotype. These mice also show changes in the arterial pulse waveform, suggesting a vascular contribution to their hypertension not reported in previous FHHt models. These findings may explain the severity of the FHHt phenotype caused by CUL3 mutations compared to those reported in KLHL3 or WNK kinases. PMID:26286618

  19. Root causes and impacts of severe accidents at large nuclear power plants.

    PubMed

    Högberg, Lars

    2013-04-01

    The root causes and impacts of three severe accidents at large civilian nuclear power plants are reviewed: the Three Mile Island accident in 1979, the Chernobyl accident in 1986, and the Fukushima Daiichi accident in 2011. Impacts include health effects, evacuation of contaminated areas as well as cost estimates and impacts on energy policies and nuclear safety work in various countries. It is concluded that essential objectives for reactor safety work must be: (1) to prevent accidents from developing into severe core damage, even if they are initiated by very unlikely natural or man-made events, and, recognizing that accidents with severe core damage may nevertheless occur; (2) to prevent large-scale and long-lived ground contamination by limiting releases of radioactive nuclides such as cesium to less than about 100 TBq. To achieve these objectives the importance of maintaining high global standards of safety management and safety culture cannot be emphasized enough. All three severe accidents discussed in this paper had their root causes in system deficiencies indicative of poor safety management and poor safety culture in both the nuclear industry and government authorities. PMID:23423737

  20. A severe red tide (Tampa Bay, 2005) causes an anomalous decrease in biological sound

    PubMed Central

    Indeck, Katherine L.; Simard, Peter; Gowans, Shannon; Lowerre-Barbieri, Susan; Mann, David A.

    2015-01-01

    Although harmful algal blooms (HABs) are known to cause morbidity and mortality in marine organisms, their sublethal effects are poorly understood. The purpose of this study was to compare ambient noise levels during a severe HAB event in Tampa Bay, Florida, to those during non-HAB periods. Passive acoustic monitoring was conducted using bottom-mounted autonomous acoustic recorders during a severe HAB in summer 2005, and in summers 2006, 2011 and 2012 (non-severe HAB years). Ambient noise levels were significantly higher during the non-HAB years due to an abundance of snapping shrimp (Alpheidae) sounds and fish chorusing. The difference of sound intensity between the study years is most likely attributable to effects of the HAB on the abundance and/or behaviour of fish and snapping shrimp as a result of mortality and stress-induced behavioural modifications. PMID:26473055

  1. Sepsis Caused by Achromobacter Xylosoxidans in a Child with Cystic Fibrosis and Severe Lung Disease.

    PubMed

    Stobbelaar, Kim; Van Hoorenbeeck, Kim; Lequesne, Monique; De Dooy, Jozef; Ho, Erwin; Vlieghe, Erika; Ieven, Margaretha; Verhulst, Stijn

    2016-01-01

    BACKGROUND Achromobacter xylosoxidans is an aerobic, motile, Gram-negative, opportunistic pathogen that can be responsible for various severe nosocomial and community-acquired infections. It has been found in immunocompromised patients and patients with several other underlying conditions, but the clinical role of this microorganism in cystic fibrosis is unclear. CASE REPORT We describe a case of septic shock caused by A. xylosoxidans in a 10-year-old child with cystic fibrosis and severe lung disease. CONCLUSIONS As the prevalence of A. xylosoxidans in cystic fibrosis patients is rising and patient-to-patient transmission is highly probable, further studies are warranted to determine its role and to document the appropriate treatment strategy for eradication and long-term treatment of this organism. PMID:27498677

  2. A severe red tide (Tampa Bay, 2005) causes an anomalous decrease in biological sound.

    PubMed

    Indeck, Katherine L; Simard, Peter; Gowans, Shannon; Lowerre-Barbieri, Susan; Mann, David A

    2015-09-01

    Although harmful algal blooms (HABs) are known to cause morbidity and mortality in marine organisms, their sublethal effects are poorly understood. The purpose of this study was to compare ambient noise levels during a severe HAB event in Tampa Bay, Florida, to those during non-HAB periods. Passive acoustic monitoring was conducted using bottom-mounted autonomous acoustic recorders during a severe HAB in summer 2005, and in summers 2006, 2011 and 2012 (non-severe HAB years). Ambient noise levels were significantly higher during the non-HAB years due to an abundance of snapping shrimp (Alpheidae) sounds and fish chorusing. The difference of sound intensity between the study years is most likely attributable to effects of the HAB on the abundance and/or behaviour of fish and snapping shrimp as a result of mortality and stress-induced behavioural modifications. PMID:26473055

  3. Sepsis Caused by Achromobacter Xylosoxidans in a Child with Cystic Fibrosis and Severe Lung Disease

    PubMed Central

    Stobbelaar, Kim; Van Hoorenbeeck, Kim; Lequesne, Monique; De Dooy, Jozef; Ho, Erwin; Vlieghe, Erika; Ieven, Margaretha; Verhulst, Stijn

    2016-01-01

    Patient: Female, 10 Final Diagnosis: Sepsis Symptoms: Fever • hypotension • not tollerating enteral feeds • respiratory deterioration Medication: — Clinical Procedure: IV antibiotics • lungtransplantion Specialty: Pediatrics and Neonatology Objective: Unusual clinical course Background: Achromobacter xylosoxidans is an aerobic, motile, Gram-negative, opportunistic pathogen that can be responsible for various severe nosocomial and community-acquired infections. It has been found in immunocompromised patients and patients with several other underlying conditions, but the clinical role of this microorganism in cystic fibrosis is unclear. Case Report: We describe a case of septic shock caused by A. xylosoxidans in a 10-year-old child with cystic fibrosis and severe lung disease. Conclusions: As the prevalence of A. xylosoxidans in cystic fibrosis patients is rising and patient-to-patient transmission is highly probable, further studies are warranted to determine its role and to document the appropriate treatment strategy for eradication and long-term treatment of this organism. PMID:27498677

  4. The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome.

    PubMed

    Brown, Kyla; Selfridge, Jim; Lagger, Sabine; Connelly, John; De Sousa, Dina; Kerr, Alastair; Webb, Shaun; Guy, Jacky; Merusi, Cara; Koerner, Martha V; Bird, Adrian

    2016-02-01

    Rett syndrome is caused by mutations in the X-linked MECP2 gene, which encodes a chromosomal protein that binds to methylated DNA. Mouse models mirror the human disorder and therefore allow investigation of phenotypes at a molecular level. We describe an Mecp2 allelic series representing the three most common missense Rett syndrome (RTT) mutations, including first reports of Mecp2[R133C] and Mecp2[T158M] knock-in mice, in addition to Mecp2[R306C] mutant mice. Together these three alleles comprise ∼25% of all RTT mutations in humans, but they vary significantly in average severity. This spectrum is mimicked in the mouse models; R133C being least severe, T158M most severe and R306C of intermediate severity. Both R133C and T158M mutations cause compound phenotypes at the molecular level, combining compromised DNA binding with reduced stability, the destabilizing effect of T158M being more severe. Our findings contradict the hypothesis that the R133C mutation exclusively abolishes binding to hydroxymethylated DNA, as interactions with DNA containing methyl-CG, methyl-CA and hydroxymethyl-CA are all reduced in vivo. We find that MeCP2[T158M] is significantly less stable than MeCP2[R133C], which may account for the divergent clinical impact of the mutations. Overall, this allelic series recapitulates human RTT severity, reveals compound molecular aetiologies and provides a valuable resource in the search for personalized therapeutic interventions. PMID:26647311

  5. Severe maternal morbidity from direct obstetric causes in West Africa: incidence and case fatality rates.

    PubMed Central

    Prual, A.; Bouvier-Colle, M. H.; de Bernis, L.; Bréart, G.

    2000-01-01

    Data on maternal morbidity make it possible to assess how many women are likely to need essential obstetric care, and permit the organization, monitoring and evaluation of safe motherhood programmes. In the present paper we propose operational definitions of severe maternal morbidity and report the frequency of such morbidity as revealed in a population-based survey of a cohort of 20,326 pregnant women in six West African countries. The methodology and questionnaires were the same in all areas. Each pregnant woman had four contacts with the obstetric survey team: at inclusion, between 32 and 36 weeks of amenorrhoea, during delivery and 60 days postpartum. Direct obstetric causes of severe morbidity were observed in 1215 women (6.17 cases per 100 live births). This ratio varied significantly between areas, from 3.01% in Bamako to 9.05% in Saint-Louis. The main direct causes of severe maternal morbidity were: haemorrhage (3.05 per 100 live births); obstructed labour (2.05 per 100), 23 cases of which involved uterine rupture (0.12 per 100); hypertensive disorders of pregnancy (0.64 per 100), 38 cases of which involved eclampsia (0.19 per 100); and sepsis (0.09 per 100). Other direct obstetric causes accounted for 12.2% of cases. Case fatality rates were very high for sepsis (33.3%), uterine rupture (30.4%) and eclampsia (18.4%); those for haemorrhage varied from 1.9% for antepartum or peripartum haemorrhage to 3.7% for abruptio placentae. Thus at least 3-9% of pregnant women required essential obstetric care. The high case fatality rates of several complications reflected a poor quality of obstetric care. PMID:10859853

  6. Chemoarchitectonic Subdivisions of the Songbird Septum and a Comparative Overview of Septum Chemical Anatomy in Jawed Vertebrates

    PubMed Central

    Goodson, James L.; Evans, Andrew K.; Lindberg, Laura

    2008-01-01

    Available data demonstrate that the avian septal region shares a number of social behavior functions and neurochemical features in common with mammals. However, the structural and functional subdivisions of the avian septum remain largely unexplored. In order to delineate chemoarchitectural zones of the avian septum, we prepared a large dataset of double-, triple- and quadruple-labeled material in a variety of songbird species (finches and waxbills of the family Estrildidae and a limited number of emberizid sparrows) using antibodies against ten neuropeptides and enzymes. Ten septal zones were identified which are placed into lateral, medial, caudocentral and septohippocampal divisions, with the lateral and medial divisions each containing multiple zones. The distributions of numerous immunoreactive substances in the lateral septum closely match those of mammals (i.e., distributions of met-enkephalin, vasotocin, galanin, calcitonin gene-related peptide, tyrosine hydroxylase, vasoactive intestinal polypeptide, substance P, corticotropin-releasing factor, and neuropeptide Y), enabling detailed comparisons with numerous chemoarchitectonic zones of the mammalian lateral septum. Our septohippocampal and caudocentral divisions are topographically comparable to the mammalian septohippocampal and septofimbrial nuclei, respectively, although additional data will be required to establish homology. The present data also demonstrate the presence of a medial septal nucleus that is histochemically comparable to the medial septum of mammals. The avian medial septum is clearly defined by peptidergic markers and choline acetyltransferase immunoreactivity. These findings should provide a useful framework for functional and comparative studies, as they suggest that many features of the septum are highly conserved across vertebrate taxa. PMID:15116393

  7. A comparative study of severe scorpion envenomation in children caused by Tityus bahiensis and Tityus serrulatus.

    PubMed

    Bucaretchi, F; Baracat, E C; Nogueira, R J; Chaves, A; Zambrone, F A; Fonseca, M R; Tourinho, F S

    1995-01-01

    From January 1984 to May 1994, 17 of 239 children under 15 years old stung by Tityus serrulatus (15.1%) or Tityus bahiensis (84.9%) presented severe envenoming. Of these 17 patients (1-11 years old; median = 2 yr) 14 were stung by T. serrulatus and three by T. bahiensis. All of them received scorpion antivenom i.v. at times ranging from 45 min. to 5 h after the accident (median = 2 h). On admission, the main clinical manifestations and laboratory and electrocardiographic changes were: vomiting (17), diaphoresis (15), tachycardia (14), prostration (10), tachypnea (8), arterial hypertension (7), arterial hypotension (5), tremors (5), hypothermia (4), hyperglycemia (17), leukocytosis (16/16), hypokalemia (13/17), increased CK-MB enzyme activity (> 6% of the total CK, 11/12), hyperamylasemia (11/14), sinusal tachycardia (16/17) and a myocardial infarction-like pattern (11/17). Six patients stung by T. serrulatus had depressed left ventricular systolic function assessed by means of echocardiography. Of these, five presented pulmonary edema and four had shock. A child aged two-years old presented severe respiratory failure and died 65 h after being stung by T. serrulatus. Severe envenomations caused by T. serrulatus were 26.2 times more frequent than those caused by T. bahiensis (p < 0.001). PMID:8599062

  8. Clinical Profile and Prognostic Indicators in Adults Hospitalized with Severe Malaria Caused by Different Plasmodium Species

    PubMed Central

    Gupta, Bal Kishan; Gupta, Anjli; Nehra, Hardev Ram; Balotia, Heera Ram; Meena, Shyam Lal; Kumar, Surendra

    2015-01-01

    INTRODUCTION Severe malaria remains a major cause of death and morbidity among adults in the Asiatic tropics. This study was planned to evaluate clinical profile and prognostic indicators of severe malaria in adults so as to improve insight into this highly prevalent disease. MATERIALS AND METHODS This prospective observational study was conducted on 60 confirmed cases of malaria. Cases were divided into two groups: (a) study group: suffering from severe malaria and (b) control group: no severe manifestations. All cases were thoroughly studied for clinical features, laboratory evaluation, and outcome. Prognostic evaluation was also done by different score systems. RESULTS In all, 40 cases suffer from severe malaria (study group), while 20 cases belong to the control group. The majority of our cases were males of age 21–40 years. The most common species of malaria in the study group was vivax (52.5%), followed by falciparum (25%) and mixed malaria species (22.5%). The clinical predictors for severe malaria were rural habitat, longer duration of fever, marked chills, tiredness, giddiness, nausea, vomiting, decreased urine output, jaundice, and altered sensorium. Extreme weakness (80%), jaundice (55%), renal failure (50%), and severe anemia (27.5%) were the most common presenting features in severe malaria. Two patients died of severe mixed malaria. The mortality rate was significantly associated with lower hemoglobin level (P = 0.002); higher total leukocyte count (P = 0.006), blood urea (P < 0.001), serum creatinine (P < 0.001), SGOT (P = 0.001), SGPT (P < 0.007), serum bilirubin (P = 0.003), and parasite density (P = 0.033); lower platelet count (P = 0.043); and those who had more APACHE II score (P = 0.003), SOFA score (P = 0.04), and Multiple Organ Dysfunction Score (P < 0.001) and lower Glasgow Coma Scale (P < 0.001). CONCLUSIONS Manifestations of severe malaria is becoming increasingly more prevalent specifically in vivax and mixed malaria cases. Our study

  9. Beamstrahlung Photon Load on the TESLA Extraction Septum Blade(LCC-0104)

    SciTech Connect

    Seryi, A

    2003-10-02

    This note describes work performed in the framework of the International Linear Collider Technical Review Committee [1] to estimate the power load on the TESLA extraction septum blade due to beamstrahlung photons. It is shown, that under realistic conditions the photon load can be several orders of magnitude higher than what was estimated in the TESLA TDR [2] for the ideal Gaussian beams, potentially representing a serious limitation of the current design.

  10. Spectrum of urorectal septum malformation sequence.

    PubMed

    Shah, Krupa; Nayak, Shalini S; Shukla, Anju; Girisha, Katta M

    2016-05-01

    Urorectal septum malformation sequence (URSMS) is a rare spectrum of malformations involving various organ systems. Here, we present eight cases of URSMS, noted in autopsy, with different degrees of complexity, seven being the complete type and one being the partial type. All cases had gastrointestinal tract malformation in the form of the imperforate anus and indeterminate genitalia. Other gastrointestinal tract anomalies were anal agenesis in two cases, anorectal agenesis in two cases, and malformed lower intestinal tract in four cases. The associated renal abnormality was noted in five cases, which were unilateral renal agenesis, dysplastic kidney, hydronephrosis, horseshoe kidney, and unilateral hypoplastic ectopic kidney. External genital malformation, present in both male and female fetuses, included a knob-like structure at perineum in female fetuses, genital fold hypoplasia and penile aplasia or hypoplasia in male fetuses. Skeletal abnormalities included two cases of sacral agenesis and one case of lumbosacral dysraphism. Other anomalies included a case with alobar holoprosencephaly, truncus arteriosus with hypoplastic lungs in one case, and three cases with abdominal wall defects. It is our attempt to delineate a spectrum of abnormalities associated with URSMS. PMID:26663027

  11. Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.

    PubMed

    Moulson, Casey L; Fong, Loren G; Gardner, Jennifer M; Farber, Emily A; Go, Gloriosa; Passariello, Annalisa; Grange, Dorothy K; Young, Stephen G; Miner, Jeffrey H

    2007-09-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare precocious aging syndrome caused by mutations in LMNA that lead to synthesis of a mutant form of prelamin A, generally called progerin, that cannot be processed to mature lamin A. Most HGPS patients have a recurrent heterozygous de novo mutation in exon 11 of LMNA, c.1824C>T/p.G608G; this synonymous mutation activates a nearby cryptic splice donor site, resulting in synthesis of the mutant prelamin A, progerin, which lacks 50 amino acids within the carboxyl-terminal domain. Abnormal splicing is incomplete, so the mutant allele produces some normally-spliced transcripts. Nevertheless, the synthesis of progerin is sufficient to cause misshapen nuclei in cultured cells and severe disease phenotypes in affected patients. Here we present two patients with extraordinarily severe forms of progeria caused by unusual mutations in LMNA. One had a splice site mutation (c.1968+1G>A; or IVS11+1G>A), and the other had a novel synonymous coding region mutation (c.1821G>A/p.V607V). Both mutations caused very frequent use of the same exon 11 splice donor site that is activated in typical HGPS patients. As a consequence, the ratios of progerin mRNA and protein to wild-type were higher than in typical HGPS patients. Fibroblasts from both patients exhibited nuclear shape abnormalities typical of HGPS, and cells treated with a protein farnesyltransferase inhibitor exhibited fewer misshapen nuclei. Thus, farnesyltransferase inhibitors may prove to be useful even when progerin expression levels are higher than those in typical HGPS patients. PMID:17469202

  12. Low-Velocity Nail-Gun Injuries to the Interventricular Septum: Report of Two Cases, One in a Child

    PubMed Central

    Michalsen, Kara L.; Iguidbashian, John P.; Kyser, James P.

    2015-01-01

    Nail-gun injury to the heart is rare. Nail-gun injury to the interventricular septum is rarer: we could find only 5 reported cases, and none involving a child. We report 2 additional cases, in which nails penetrated the interventricular septum without causing acute pericardial tamponade, heart block, or shunt across the septum. Transesophageal echocardiography provides a dynamic way to evaluate the patient preoperatively, intraoperatively, and postoperatively. In the cases reported here, both the adult with multiple interventricular nails and the child with a single nail underwent foreign-object removal via median sternotomy. The child needed cardiopulmonary bypass for removal of the nail. There were no short-term or long-term sequelae from these interventricular septal injuries. PMID:26413027

  13. First report of Oryctes rhinoceros nudivirus (Coleoptera: Scarabaeidae) causing severe disease in Allomyrina dichotoma in Korea.

    PubMed

    Lee, Seokhyun; Park, Kwan-Ho; Nam, Sung-Hee; Kwak, Kyu-Won; Choi, Ji-Young

    2015-01-01

    Oryctes rhinoceros nudivirus (OrNV) has been known to cause severe disease in coconut palm rhinoceros beetle, Oryctes rhinoceros, in Southeastern Asia and is used as a biological control to reduce the pest population. Here, we report for the first time that the OrNV may have landed on Korea and may be the major pathogen for diseased larvae of Korean horn beetle, Allomyrina dichotoma. After peroral inoculation, over 60% of infected larvae perished in 6 wk. This viral disease spreads very fast in several locations throughout Korea. This threat not only makes economic loss of local farms rearing A. dichotoma larvae but also may disturb the ecosystem by transmitting to wild A. dichotoma. PMID:25765317

  14. Multilobular tumour of the caudal cranium causing severe cerebral and cerebellar compression in a dog

    PubMed Central

    Psychas, Vassilios; Polizopoulou, Zoe S.; Sofianidis, Georgios

    2009-01-01

    Multilobular tumour of bone (MTB) is an uncommon tumour and is usually located in the skull. A 13-year-old mixed breed dog was presented with a two-week history of progressively worsening vestibular dysfunction and cognitive abnormalities; it appeared demented and showed asymmetric ataxia and hypermetria of all limbs. The owner opted to have the animal euthanised. Necropsy revealed a large mass occupying the right occipital, parietal and temporal bones, severely compressing the cerebellum and the right occipital lobe. Histologically, it was characterised by the presence of multiple lobules containing osteoid or cartilage and separated by fibrous septae, features typical of MTB. Lung metastases were evident. To our knowledge, this is the first report of an MTB causing both severe cerebral and cerebellar compression and the second detailed report of an MTB of the occipital bone. MTB should be included in the differential diagnosis of bone tumours as well as in cases with central vestibular disease. PMID:19255529

  15. First Report of Oryctes rhinoceros nudivirus (Coleoptera: Scarabaeidae) Causing Severe Disease in Allomyrina dichotoma in Korea

    PubMed Central

    Lee, Seokhyun; Park, Kwan-Ho; Nam, Sung-Hee; Kwak, Kyu-Won; Choi, Ji-Young

    2015-01-01

    Oryctes rhinoceros nudivirus (OrNV) has been known to cause severe disease in coconut palm rhinoceros beetle, Oryctes rhinoceros, in Southeastern Asia and is used as a biological control to reduce the pest population. Here, we report for the first time that the OrNV may have landed on Korea and may be the major pathogen for diseased larvae of Korean horn beetle, Allomyrina dichotoma. After peroral inoculation, over 60% of infected larvae perished in 6 wk. This viral disease spreads very fast in several locations throughout Korea. This threat not only makes economic loss of local farms rearing A. dichotoma larvae but also may disturb the ecosystem by transmitting to wild A. dichotoma. PMID:25765317

  16. Endophytic Fusarium verticillioides reduces disease severity caused by Ustilago maydis on maize.

    PubMed

    Lee, Keunsub; Pan, Jean J; May, Georgiana

    2009-10-01

    Endophytic fungi represent diverse taxa that inhabit plant hosts without causing disease symptoms. We used endophytic isolates of Fusarium verticillioides (Sacc.) Nirenberg to understand how endophytic fungi interact with pathogens, in this case, the corn smut pathogen, Ustilago maydis DC (Corda). Endophytic F. verticillioides strains were inoculated onto maize seedlings before, simultaneously, or after inoculation with U. maydis, and the effects on smut disease severity and on plant growth were assessed. When F. verticillioides is simultaneously coinoculated with U. maydis, smut disease severity is significantly decreased and plant growth is increased, compared with other treatments. Controls show that F. verticillioides by itself does not have measurable effects on plant growth. Together, our results suggest that a commonly occurring fungal endophyte on maize, F. verticillioides, ameliorates the effects of a host-specific pathogen, U. maydis, by interfering with the early infection process and limiting disease development, resulting in increased plant growth. PMID:19694816

  17. A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia.

    PubMed

    Henningsen, Emil; Svendsen, Mathias Tiedemann; Lildballe, Dorte Launholt; Jensen, Peter Kjestrup Axel

    2014-08-01

    We report on a 2-year-old girl presenting with a severe form of hypohidrotic ectodermal dysplasia (HED). The patient presented with hypotrichosis, anodontia, hypohidrosis, frontal bossing, prominent lips and ears, dry, pale skin, and dermatitis. The patient had chronic rhinitis with malodorous nasal discharge. The girl was the second born child of first-cousin immigrants from Northern Iraq. A novel homozygous mutation (c.84delC) in the EDAR gene was identified. This mutation most likely causes a frameshift in the protein product (p.S29fs*74). This results in abolition of all ectodysplasin-mediated NF-kB signalling. This complete loss-of-function mutation likely accounts for the severe clinical abnormalities in ectodermal structures in the described patient. PMID:24764207

  18. Superior Mesenteric Vein Occlusion Causing Severe Gastrointestinal Haemorrhage in Two Paediatric Cases

    PubMed Central

    Fox, Anna L.; Jones, Matthew; Healey, Andrew; Auth, Marcus K. H.

    2012-01-01

    Reports about superior mesenteric vein thrombosis in childhood are very rare and have not been associated with gastrointestinal bleeding. We describe two cases of severe bleeding from the upper and lower gastrointestinal tract in children who had undergone complex abdominal surgery at considerable time before. The first child had a tracheoesophageal fistula, corrected by division, gastrostomy insertion, and repair of duodenal rupture. The child presented with severe bleeding from the gastrostomy site and was diagnosed with a thrombosis of the proximal superior mesenteric vein. The second child had a gastroschisis and duodenal atresia, and required duodenoplasty, gastrostomy insertion, hemicolectomy, and adhesiolysis. The child presented with intermittent severe lower gastrointestinal bleeding, resulting from collateral vessels at location of the surgical connections. He was diagnosed with a thrombosis of the superior mesenteric vein. In both children, the extensive previous surgery and anastomosis were considered the cause of the mesenteric thrombosis. CT angiography confirmed the diagnosis in both cases, in addition to characteristic findings on endoscopy. Paediatricians should suspect this condition in children with severe gastrointestinal bleeding, particularly in children with previous, complex abdominal surgery. PMID:23198238

  19. Severe hyponatremia caused by nab-paclitaxel-induced syndrome of inappropriate antidiuretic hormone secretion

    PubMed Central

    Neuzillet, Cindy; Babai, Samy; Kempf, Emmanuelle; Pujol, Géraldine; Rousseau, Benoît; Le-Louët, Hervé; Christophe Tournigand

    2016-01-01

    Abstract Incidence of pancreatic ductal adenocarcinoma (PDAC) is increasing. Most patients have advanced disease at diagnosis and therapeutic options in this setting are limited. Gemcitabine plus nab-paclitaxel regimen was demonstrated to increase survival compared with gemcitabine monotherapy and is therefore indicated as first-line therapy in patients with metastatic PDAC and performance status Eastern Cooperative Oncology Group (ECOG) 0-2. The safety profile of gemcitabine and nab-paclitaxel combination includes neutropenia, fatigue, and neuropathy as most common adverse events of grade 3 or higher. No case of severe hyponatremia associated with the use of nab-paclitaxel for the treatment of PDAC has been reported to date. We report the case of a 72-year-old Caucasian man with a metastatic PDAC treated with gemcitabine and nab-paclitaxel regimen, who presented with a severe hyponatremia (grade 4) caused by a documented syndrome of inappropriate antidiuretic hormone secretion (SIADH). This SIADH was attributed to nab-paclitaxel after a rigorous imputability analysis, including a rechallenge procedure with dose reduction. After dose and schedule adjustment, nab-paclitaxel was pursued without recurrence of severe hyponatremia and with maintained efficacy. Hyponatremia is a rare but potentially severe complication of nab-paclitaxel therapy that medical oncologists and gastroenterologists should be aware of. Nab-paclitaxel-induced hyponatremia is manageable upon dose and schedule adaptation, and should not contraindicate careful nab-paclitaxel reintroduction. This is of particular interest for a disease in which the therapeutic options are limited. PMID:27368013

  20. TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis

    PubMed Central

    Yokoi, Setsuri; Ishihara, Naoko; Miya, Fuyuki; Tsutsumi, Makiko; Yanagihara, Itaru; Fujita, Naoko; Yamamoto, Hiroyuki; Kato, Mitsuhiro; Okamoto, Nobuhiko; Tsunoda, Tatsuhiko; Yamasaki, Mami; Kanemura, Yonehiro; Kosaki, Kenjiro; Kojima, Seiji; Saitoh, Shinji; Kurahashi, Hiroki; Natsume, Jun

    2015-01-01

    TUBA1A mutations cause a wide spectrum of lissencephaly and brain malformations. Here, we report two patients with severe cortical dysgeneses, one with an extremely thin cerebral parenchyma apparently looking like hydranencephaly and the other with lissencephaly accompanied by marked hydrocephalus, both harbouring novel de novo missense mutations of TUBA1A. To elucidate how the various TUBA1A mutations affect the severity of the phenotype, we examined the capacity of the mutant protein to incorporate into the endogenous microtubule network in transfected COS7 cells by measuring line density using line extraction in an immunofluorescence study. The mutants responsible for severe phenotypes were found to incorporate extensively into the network. To determine how each mutant alters the microtubule stability, we examined cold-induced microtubule depolymerisation in fibroblasts. The depolymerisation of patients’ fibroblasts occurred earlier than that of control fibroblasts, suggesting that microtubules bearing mutated tubulins are unstable. Both mutations are predicted to participate in lateral interactions of microtubules. Our data suggest that the TUBA1A mutations disrupting lateral interactions have pronounced dominant-negative effects on microtubule dynamics that are associated with the severe end of the lissencephaly spectrum. PMID:26493046

  1. A Rare Case of Lipomatous Hypertrophy of the Interventricular Septum

    PubMed Central

    Matsiras, Sotirios; Vassilikos, Vassilios

    2016-01-01

    Asymmetrical left ventricular hypertrophy secondary to interventricular septum hypertrophy is usually considered a typical phenotype of hypertrophic cardiomyopathy. In rare cases other conditions such as tumors or lipomatous hypertrophy of the interventricular septum may have a similar presentation. We present a case of a male patient who presented for routine cardiology work up and was diagnosed of having ventricular septal hypertrophy secondary to localized lipomatous hypertrophy. PMID:27358712

  2. Pulsed power supply for three APS septum magnets

    SciTech Connect

    McGhee, D.G.

    1991-03-24

    Three septum magnets will be operated at a repetition-rate of 2 Hz. Two of the septum magnets are identical and operate at the same values; these are the synchrotron extraction and the storage ring injection magnets. They are transformer septum magnets, with a primary inductance of 23 {mu}H and resistance of 6.3 m{Omega}, and must be pulsed at a 2 Hz rate to extract beam from the synchrotron and inject beam into the storage ring at 7.7 GeV. The third septum magnet is used to inject electrons into the synchrotron at 650 MeV or positrons at 450 MeV. It is also a transformer septum magnet, with a primary inductance of 21 {mu}H and resistance of 6.7 m{Omega}, and must be pulsed at a 2 Hz rate. A design study was performed of the power supply proposed in the APS Title I design. This supply produces a pulse that is approximately a half-sine-wave with a base width of approximately 1/3 ms; its peakcurrent is adjustable from 470 A to 4.7 kA and is repeatable within {plus_minus}0.05%. The septum steel is reset by a half-sine pulse of reverse polarity a few milliseconds after the forward current pulse. No beam is present during reset. The use of the transformer design minimizes the cost of the capacitors used for energy storage.

  3. Severe Community-Acquired Pneumonia Caused by Human Adenovirus in Immunocompetent Adults: A Multicenter Case Series

    PubMed Central

    Tong, Fei; Yao, Dongqi; Walline, Joseph; Xu, Jun; Yu, Xuezhong

    2016-01-01

    Background Severe community-acquired pneumonia (CAP) caused by human adenovirus (HAdV), especially HAdV type 55 (HAdV-55) in immunocompetent adults has raised increasing concerns. Clinical knowledge of severe CAP and acute respiratory distress syndrome induced by HAdV-55 is still limited, though the pathogen has been fully characterized by whole-genome sequencing. Methods We conducted a multicentre retrospective review of all consecutive patients with severe CAP caused by HAdV in immunocompetent adults admitted to the Emergency Department Intensive Care Unit of two hospitals in Northern China between February 2012 and April 2014. Clinical, laboratory, radiological characteristics, treatments and outcomes of these patients were collected and analyzed. Results A total of 15 consecutive severe CAP patients with laboratory-confirmed adenovirus infections were included. The median age was 30 years and all cases were identified during the winter and spring seasons. HAdV-55 was the most frequently (11/15) detected HAdV type. Persistent high fever, cough and rapid progression of dyspnea were typically reported in these patients. Significantly increased pneumonia severity index (PSI), respiratory rate, and lower PaO2/FiO2, hypersensitive CRP were reported in non-survivors compared to survivors (P = 0.013, 0.022, 0.019 and 0.026, respectively). The rapid development of bilateral consolidations within 10 days after illness onset were the most common radiographic finding, usually accompanied by adjacent ground glass opacities and pleural effusions. Total mortality was 26.7% in this study. Corticosteroids were prescribed to 14 patients in this report, but the utilization rate between survivors and non-survivors was not significant. Conclusions HAdV and the HAdV-55 sub-type play an important role among viral pneumonia pathogens in hospitalized immunocompetent adults in Northern China. HAdV should be tested in severe CAP patients with negative bacterial cultures and a lack of

  4. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

    PubMed

    Stray-Pedersen, Asbjørg; Cobben, Jan-Maarten; Prescott, Trine E; Lee, Sora; Cang, Chunlei; Aranda, Kimberly; Ahmed, Sohnee; Alders, Marielle; Gerstner, Thorsten; Aslaksen, Kathinka; Tétreault, Martine; Qin, Wen; Hartley, Taila; Jhangiani, Shalini N; Muzny, Donna M; Tarailo-Graovac, Maja; van Karnebeek, Clara D M; Lupski, James R; Ren, Dejian; Yoon, Grace

    2016-01-01

    Ion channel proteins are required for both the establishment of resting membrane potentials and the generation of action potentials. Hundreds of mutations in genes encoding voltage-gated ion channels responsible for action potential generation have been found to cause severe neurological diseases. In contrast, the roles of voltage-independent "leak" channels, important for the establishment and maintenance of resting membrane potentials upon which action potentials are generated, are not well established in human disease. UNC80 is a large component of the NALCN sodium-leak channel complex that regulates the basal excitability of the nervous system. Loss-of-function mutations of NALCN cause infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF). We report four individuals from three unrelated families who have homozygous missense or compound heterozygous truncating mutations in UNC80 and persistent hypotonia, encephalopathy, growth failure, and severe intellectual disability. Compared to control cells, HEK293T cells transfected with an expression plasmid containing the c.5098C>T (p.Pro1700Ser) UNC80 mutation found in one individual showed markedly decreased NALCN channel currents. Our findings demonstrate the fundamental significance of UNC80 and basal ionic conductance to human health. PMID:26708751

  5. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

    PubMed Central

    Stray-Pedersen, Asbjørg; Cobben, Jan-Maarten; Prescott, Trine E.; Lee, Sora; Cang, Chunlei; Aranda, Kimberly; Ahmed, Sohnee; Alders, Marielle; Gerstner, Thorsten; Aslaksen, Kathinka; Tétreault, Martine; Qin, Wen; Hartley, Taila; Jhangiani, Shalini N.; Muzny, Donna M.; Tarailo-Graovac, Maja; van Karnebeek, Clara D.M.; Lupski, James R.; Ren, Dejian; Yoon, Grace

    2016-01-01

    Ion channel proteins are required for both the establishment of resting membrane potentials and the generation of action potentials. Hundreds of mutations in genes encoding voltage-gated ion channels responsible for action potential generation have been found to cause severe neurological diseases. In contrast, the roles of voltage-independent “leak” channels, important for the establishment and maintenance of resting membrane potentials upon which action potentials are generated, are not well established in human disease. UNC80 is a large component of the NALCN sodium-leak channel complex that regulates the basal excitability of the nervous system. Loss-of-function mutations of NALCN cause infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF). We report four individuals from three unrelated families who have homozygous missense or compound heterozygous truncating mutations in UNC80 and persistent hypotonia, encephalopathy, growth failure, and severe intellectual disability. Compared to control cells, HEK293T cells transfected with an expression plasmid containing the c.5098C>T (p.Pro1700Ser) UNC80 mutation found in one individual showed markedly decreased NALCN channel currents. Our findings demonstrate the fundamental significance of UNC80 and basal ionic conductance to human health. PMID:26708751

  6. Severe visual impairment and blindness in infants: causes and opportunities for control.

    PubMed

    Gogate, Parikshit; Gilbert, Clare; Zin, Andrea

    2011-04-01

    Childhood blindness has an adverse effect on growth, development, social, and economic opportunities. Severe visual impairment (SVI) and blindness in infants must be detected as early as possible to initiate immediate treatment to prevent deep amblyopia. Although difficult, measurement of visual acuity of an infant is possible. The causes of SVI and blindness may be prenatal, perinatal, and postnatal. Congenital anomalies such as anophthalmos, microphthalmos, coloboma, congenital cataract, infantile glaucoma, and neuro-ophthalmic lesions are causes of impairment present at birth. Ophthalmia neonatorum, retinopathy of prematurity, and cortical visual impairment are acquired during the perinatal period. Leukocoria or white pupillary reflex can be cause by congenital cataract, persistent hyperplastic primary vitreous, or retinoblastoma. While few medical or surgical options are available for congenital anomalies or neuro-ophthalmic disorders, many affected infants can still benefit from low vision aids and rehabilitation. Ideally, surgery for congenital cataracts should occur within the first 4 months of life. Anterior vitrectomy and primary posterior capsulotomy are required, followed by aphakic glasses with secondary intraocular lens implantation at a later date. The treatment of infantile glaucoma is surgery followed by anti-glaucoma medication. Retinopathy of prematurity is a proliferation of the retinal vasculature in response to relative hypoxia in a premature infant. Screening in the first few weeks of life can prevent blindness. Retinoblastoma can be debulked with chemotherapy; however, enucleation may still be required. Neonatologists, pediatricians, traditional birth attendants, nurses, and ophthalmologists should be sensitive to a parent's complaints of poor vision in an infant and ensure adequate follow-up to determine the cause. If required, evaluation under anesthesia should be performed, which includes funduscopy, refraction, corneal diameter

  7. Severe ionosphere disturbances caused by the sudden response of evening subequatorial ionospheres to geomagnetic storms

    SciTech Connect

    Tanaka, T.

    1981-12-01

    By monitoring C band beacon signals from geostationary satellites in Japan, we have observed anomalously strong ionospheric scintillations several times during three years from 1978 to 1980. These severe scinitillations occur associated with geomagnetic storms and accompany sudden and intense ionospheric perturbations in the low-latiude region. Through the analysis of these phenomena we have identified a new type of ionospheric disturbances characterized by intensifications of equatorial anomalies and successive severe ionospheric scintillations that extend to the C band range. The events occur only during a limited local time interval after the sunset, when storm time decreases of midlatitude geomagnetic fields in the same meridan take place during the same time interval. From the viewpoint of ionospheric storms, these disturbances precede the occurrence of midlatitude negative phases and storm time depressions of equatorial anomalies to indicate that the cause of the events is different from distrubed thermospheric circulations. The timing and magnitude of substorms at high-latitudes not always correlate with the events. We have concluded that the phenomena are closely related with penetrations toward low-latitudes of electric fields owing to the partial closure of asymmetrical ring currents.

  8. Staphylococcus aureus seroproteomes discriminate ruminant isolates causing mild or severe mastitis

    PubMed Central

    2011-01-01

    Staphylococcus aureus is a major cause of mastitis in ruminants. In ewe mastitis, symptoms range from subclinical to gangrenous mastitis. S. aureus factors or host-factors contributing to the different outcomes are not completely elucidated. In this study, experimental mastitis was induced on primiparous ewes using two S. aureus strains, isolated from gangrenous (strain O11) or subclinical (strain O46) mastitis. Strains induced drastically distinct clinical symptoms when tested in ewe and mice experimental mastitis. Notably, they reproduced mild (O46) or severe (O11) mastitis in ewes. Ewe sera were used to identify staphylococcal immunoreactive proteins commonly or differentially produced during infections of variable severity and to define core and accessory seroproteomes. Such SERological Proteome Analysis (SERPA) allowed the identification of 89 immunoreactive proteins, of which only 52 (58.4%) were previously identified as immunogenic proteins in other staphylococcal infections. Among the 89 proteins identified, 74 appear to constitute the core seroproteome. Among the 15 remaining proteins defining the accessory seroproteome, 12 were specific for strain O11, 3 were specific for O46. Distribution of one protein specific for each mastitis severity was investigated in ten other strains isolated from subclinical or clinical mastitis. We report here for the first time the identification of staphylococcal immunogenic proteins common or specific to S. aureus strains responsible for mild or severe mastitis. These findings open avenues in S. aureus mastitis studies as some of these proteins, expressed in vivo, are likely to account for the success of S. aureus as a pathogen of the ruminant mammary gland. PMID:21324116

  9. Celiac disease causing severe osteomalacia: an association still present in Morocco!

    PubMed

    Tahiri, Latifa; Azzouzi, Hamida; Squalli, Ghita; Abourazzak, Fatimazahra; Harzy, Taoufik

    2014-01-01

    Celiac disease (CD), a malabsorption syndrome caused by hypersensitivity to gliadin fraction of gluten. CD can manifest with classic symptoms; however, significant myopathy and multiple fractures are rarely the predominant presentation of untreated celiac disease. Osteomalacia complicating celiac disease had become more and more rare. We describe here a case of osteomalacia secondary to a longstanding untreated celiac disease. This patient complained about progressive bone and muscular pain, weakness, fractures and skeletal deformities. Radiological and laboratory findings were all in favor of severe osteomalacia. Improvement of patient's weakness and laboratory abnormalities was obvious after treatment with gluten free diet, vitamin D, calcium and iron. This case affirms that chronic untreated celiac disease, can lead to an important bone loss and irreversible complications like skeletal deformities. PMID:25667705

  10. The Relationship between Large Cavum Septum Pellucidum and Antisocial Behavior, Callous-Unemotional Traits and Psychopathy in Adolescents

    ERIC Educational Resources Information Center

    White, Stuart F.; Brislin, Sarah; Sinclair, Stephen; Fowler, Katherine A.; Pope, Kayla; Blair, R. James R.

    2013-01-01

    Background: The presence of a large cavum septum pellucidum (CSP) has been previously associated with antisocial behavior/psychopathic traits in an adult community sample. Aims: The current study investigated the relationship between a large CSP and symptom severity in disruptive behavior disorders (DBD; conduct disorder and oppositional defiant…

  11. Aging causes collateral rarefaction and increased severity of ischemic injury in multiple tissues

    PubMed Central

    Faber, James E.; Zhang, Hua; Lassance-Soares, Roberta M.; Prabhakar, Pranay; Najafi, Amir H.; Burnett, Mary Susan; Epstein, Stephen E.

    2011-01-01

    Objective Aging is a major risk factor for increased ischemic tissue injury. Whether collateral rarefaction and impaired remodeling contribute to this is unknown. We quantified the number and diameter of native collaterals, and their remodeling in 3-, 16-, 24-, and 31-months-old mice. Methods and Results Aging caused an “age-dose-dependent” greater drop in perfusion immediately after femoral artery ligation, followed by a diminished recovery of flow and increase in tissue injury. These effects were associated with a decline in collateral number, diameter and remodeling. Angiogenesis was also impaired. Mechanistically, these changes were not accompanied by reduced recruitment of T-cells or macrophages to remodeling collaterals. However, eNOS signaling was dysfunctional, as indicated by increased protein nitrosylation and less phosphorylated eNOS and VASP in collateral wall cells. The cerebral circulation exhibited a similar age-dose-dependent loss of collateral number and diameter and increased tortuosity, resulting in an increase in collateral resistance and infarct volume (e.g., 6- and 3-fold, respectively, in 24-months-old mice) after artery occlusion. This was not associated with rarefaction of similarly-sized arterioles. Collateral remodeling was also reduced. Conclusions Our findings demonstrate that aging causes rarefaction and insufficiency of the collateral circulation in multiple tissues, resulting in more severe ischemic tissue injury. PMID:21617137

  12. Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.

    PubMed

    Kubisch, Christian; Schoser, Benedikt G H; von Düring, Monika; Betz, Regina C; Goebel, Hans-Hilmar; Zahn, Susanne; Ehrbrecht, Antje; Aasly, Jan; Schroers, Anja; Popovic, Nikola; Lochmüller, Hanns; Schröder, J Michael; Brüning, Thomas; Malin, Jean-Pierre; Fricke, Britta; Meinck, Hans-Michael; Torbergsen, Torberg; Engels, Hartmut; Voss, Bruno; Vorgerd, Matthias

    2003-04-01

    Heterozygous missense mutations in the caveolin-3 gene (CAV3) cause different muscle disorders. Most patients with CAV3 alterations present with rippling muscle disease (RMD) characterized by signs of increased muscle irritability without muscle weakness. In some patients, CAV3 mutations underlie the progressive limb-girdle muscular dystrophy type 1C (LGMD1C). Here, we report two unrelated patients with novel homozygous mutations (L86P and A92T) in CAV3. Both presented with a more severe clinical phenotype than usually seen in RMD. Immunohistochemical and immunoblot analyses of muscle biopsies showed a strong reduction of caveolin-3 in both homozygous RMD patients similar to the findings in heterozygous RMD. Electron microscopy studies showed a nearly complete absence of caveolae in the sarcolemma in all RMD patients analyzed. Additional plasma membrane irregularities (small plasmalemmal discontinuities, subsarcolemmal vacuoles, abnormal papillary projections) were more pronounced in homozygous than in heterozygous RMD patients. A stronger activation of nitric oxide synthase was observed in both homozygous patients compared with heterozygous RMD. Like in LGMD1C, dysferlin immunoreactivity is reduced in RMD but more pronounced in homozygous as compared with heterozygous RMD. Thus, we further extend the phenotypic variability of muscle caveolinopathies by identification of a severe form of RMD associated with homozygous CAV3 mutations. PMID:12666119

  13. Diagnosing the Causes and Severity of One-sided Message Contention

    SciTech Connect

    Tallent, Nathan R.; Vishnu, Abhinav; van Dam, Hubertus; Daily, Jeffrey A.; Kerbyson, Darren J.; Hoisie, Adolfy

    2015-02-11

    Two trends suggest network contention for one-sided messages is poised to become a performance problem that concerns application developers: an increased interest in one-sided programming models and a rising ratio of hardware threads to network injection bandwidth. Unfortunately, it is difficult to reason about network contention and one-sided messages because one-sided tasks can either decrease or increase contention. We present effective and portable techniques for diagnosing the causes and severity of one-sided message contention. To detect that a message is affected by contention, we maintain statistics representing instantaneous (non-local) network resource demand. Using lightweight measurement and modeling, we identify the portion of a message's latency that is due to contention and whether contention occurs at the initiator or target. We attribute these metrics to program statements in their full static and dynamic context. We characterize contention for an important computational chemistry benchmark on InfiniBand, Cray Aries, and IBM Blue Gene/Q interconnects. We pinpoint the sources of contention, estimate their severity, and show that when message delivery time deviates from an ideal model, there are other messages contending for the same network links. With a small change to the benchmark, we reduce contention up to 50% and improve total runtime as much as 20%.

  14. [A Case of Severe Hyponatremia Caused by Renal Salt Wasting Syndrome in Oropharyngeal Cancer].

    PubMed

    Fujikawa, Taro; Shirakura, Satoru; Hatanaka, Akio; Okano, Wataru; Tokumaru, Takao; Yamada, Masato; Saito, Yoshihiro; Beppu, Takeshi

    2015-08-01

    Hyponatremia is one of the electrolyte abnormalities frequently encountered in cancer therapy. Cisplatin is a well-known drug which can raise various adverse events, including hyponatremia. A male with advanced oropharyngeal cancer is presented in the present report, who was treated with radiotherapy with concurrent administration of cisplatin and who underwent a total of three episodes of severe hyponatremia in the course of therapy. The first two attacks of hyponatremia following cisplatin administration were accompanied by dehydration and excessive urination, and the patient recovered in one week with rehydration and salt supplementation. Excessive loss of salt in urine confirmed that these events were caused by renal salt wasting syndrome after cisplatin administration. On the other hand, the third attack was due to the syndrome of inappropriate antidiuretic hormone secretion after surgery for a bone fracture. Estimation of the extracellular fluid volume and salt intake/output balance is always believed to be necessary for the diagnosis and proper management of severe hyponatremia after chemotherapy-based treatment with cisplatin. PMID:26548098

  15. Partial loss of CovS function in Streptococcus pyogenes causes severe invasive disease

    PubMed Central

    2013-01-01

    Background CovRS (or CsrRS) is a two-component regulatory system that regulates the production of multiple virulence factors in Streptococcus pyogenes. covS mutations are often found in isolates recovered from mice that have been experimentally infected with S. pyogenes and covS mutations enhance bacterial virulence in an invasive infection mouse model. In addition, covS mutations were detected more frequently in a panel of clinical isolates from severe invasive streptococcal infections than those from non-severe infections. Thus, covS mutations may be associated with the onset of severe invasive infections. Results Known covS mutations were divided into two groups: (i) frameshift mutations that caused a deletion of functional regions and (ii) point mutations that caused single (or double) amino acid(s) substitutions. Frameshift mutations are frequent in mouse-passaged isolates, whereas point mutations are frequent in clinical isolates. The functions of CovS proteins with a single amino acid substitution in clinical isolates were estimated based on the streptococcal pyrogenic exotoxin B (SpeB) production and NAD+-glycohydrolase (NADase) activity, which are known to be regulated by the CovRS system. Point mutations partially, but not completely, impaired the function of the covS alleles. We also investigated some of the benefits that a partial loss of function in covS alleles with point mutations might confer on clinical isolates. We found that covS knockout mutants (ΔcovS strains) had an impaired growth ability in a normal atmosphere in Todd Hewitt broth compared with parental isolates having wild-type or point-mutated covS. Conclusions The loss of CovS proteins in S. pyogenes may confer greater virulence, but bacteria may also lose the ability to respond to certain external signals recognized by CovS. Therefore, point mutations that retain the function of CovS and confer hypervirulence may have natural selective advantages. PMID:23537349

  16. Pulmonary Veno-Occlusive Disease: A Newly Recognized Cause of Severe Pulmonary Hypertension in Dogs.

    PubMed

    Williams, K; Andrie, K; Cartoceti, A; French, S; Goldsmith, D; Jennings, S; Priestnall, S L; Wilson, D; Jutkowitz, A

    2016-07-01

    Pulmonary hypertension is a well-known though poorly characterized disease in veterinary medicine. In humans, pulmonary veno-occlusive disease (PVOD) is a rare cause of severe pulmonary hypertension with a mean survival time of 2 years without lung transplantation. Eleven adult dogs (5 males, 6 females; median age 10.5 years, representing various breeds) were examined following the development of severe respiratory signs. Lungs of affected animals were evaluated morphologically and with immunohistochemistry for alpha smooth muscle actin, desmin, CD31, CD3, CD20, and CD204. All dogs had pulmonary lesions consistent with PVOD, consisting of occlusive remodeling of small- to medium-sized pulmonary veins, foci of pulmonary capillary hemangiomatosis (PCH), and accumulation of hemosiderophages; 6 of 11 dogs had substantial pulmonary arterial medial and intimal thickening. Ultrastructural examination and immunohistochemistry showed that smooth muscle cells contributed to the venous occlusion. Increased expression of CD31 was evident in regions of PCH indicating increased numbers of endothelial cells in these foci. Spindle cells strongly expressing alpha smooth muscle actin and desmin co-localized with foci of PCH; similar cells were present but less intensely labeled elsewhere in non-PCH alveoli. B cells and macrophages, detected by immunohistochemistry, were not co-localized with the venous lesions of canine PVOD; small numbers of CD3-positive T cells were occasionally in and around the wall of remodeled veins. These findings indicate a condition in dogs with clinically severe respiratory disease and pathologic features resembling human PVOD, including foci of pulmonary venous remodeling and PCH. PMID:26926086

  17. Will Septal Correction Surgery for Deviated Nasal Septum Improve the Sense of Smell? A Prospective Study

    PubMed Central

    Gupta, Neelima; Singh, P. P.; Bagla, Rahul Kumar

    2015-01-01

    Background and Objectives. Nasal obstruction due to deviated nasal septum is a common problem bringing a patient to an otorhinolaryngologist. Occasionally, these patients may also complain of olfactory impairment. We proposed to study the effect of septal deviation on the lateralised olfactory function and the change in olfaction after surgery of the septum (septoplasty). Methods. Forty-one patients with deviated nasal septum were evaluated for nasal airflow, olfactory score, and nasal symptomatology. Septoplasty was done under local anesthesia. Pre- and postoperative olfactory scores, airflow and olfactory scores, and nasal symptomatology and olfactory scores were compared and correlated. Results. The range of preoperative composite olfactory score (COS) on the side of septal deviation was 4–14 (mean 7.90 ± 2.234) and on the nonobstructed side was 9–18 (mean 14.49 ± 2.378). Severity of deviated nasal septum and preoperative COS of diseased side were correlated and the correlation was found to be significant (rho = −0.690, p = 0.000 (<0.001)). The preoperative mean COS (7.90 ± 2.234) was compared with the postoperative mean COS (12.39 ± 3.687) and the improvement was found to be statistically significant (p = 0.000 (<0.001)). Conclusion. We found improvement in olfactory function in 70.6% patients after surgery, no change in 20.1%, and reduced function in 7.6%. With the limitation of a small sample size and a potential repeat testing bias, we would conclude that correction of nasal septal deviation may lead to improvement in sense of smell. PMID:26491724

  18. Septum Development in Neurospora crassa: The Septal Actomyosin Tangle

    PubMed Central

    Delgado-Álvarez, Diego Luis; Bartnicki-García, Salomón; Seiler, Stephan; Mouriño-Pérez, Rosa Reyna

    2014-01-01

    Septum formation in Neurospora crassa was studied by fluorescent tagging of actin, myosin, tropomyosin, formin, fimbrin, BUD-4, and CHS-1. In chronological order, we recognized three septum development stages: 1) septal actomyosin tangle (SAT) assembly, 2) contractile actomyosin ring (CAR) formation, 3) CAR constriction together with plasma membrane ingrowth and cell wall construction. Septation began with the assembly of a conspicuous tangle of cortical actin cables (SAT) in the septation site >5 min before plasma membrane ingrowth. Tropomyosin and myosin were detected as components of the SAT from the outset. The SAT gradually condensed to form a proto-CAR that preceded CAR formation. During septum development, the contractile actomyosin ring remained associated with the advancing edge of the septum. Formin and BUD-4 were recruited during the transition from SAT to CAR and CHS-1 appeared two min before CAR constriction. Actin patches containing fimbrin were observed surrounding the ingrowing septum, an indication of endocytic activity. Although the trigger of SAT assembly remains unclear, the regularity of septation both in space and time gives us reason to believe that the initiation of the septation process is integrated with the mechanisms that control both the cell cycle and the overall growth of hyphae, despite the asynchronous nature of mitosis in N. crassa. PMID:24800890

  19. Analysis of cardiac interventricular septum motion in different respiratory states

    NASA Astrophysics Data System (ADS)

    Tautz, Lennart; Feng, Li; Otazo, Ricardo; Hennemuth, Anja; Axel, Leon

    2016-03-01

    The interaction between the left and right heart ventricles (LV and RV) depends on load and pressure conditions that are affected by cardiac contraction and respiration cycles. A novel MRI sequence, XD-GRASP, allows the acquisition of multi-dimensional, respiration-sorted and cardiac-synchronized free-breathing image data. In these data, effects of the cardiac and respiratory cycles on the LV/RV interaction can be observed independently. To enable the analysis of such data, we developed a semi-automatic exploration workflow. After tracking a cross-sectional line positioned over the heart, over all motion states, the septum and heart wall border locations are detected by analyzing the grey-value profile under the lines. These data are used to quantify septum motion, both in absolute units and as a fraction of the heart size, to compare values for different subjects. In addition to conventional visualization techniques, we used color maps for intuitive exploration of the variable values for this multi-dimensional data set. We acquired short-axis image data of nine healthy volunteers, to analyze the position and the motion of the interventricular septum in different breathing states and different cardiac cycle phases. The results indicate a consistent range of normal septum motion values, and also suggest that respiratory phase-dependent septum motion is greatest near end-diastolic phases. These new methods are a promising tool to assess LV/RV ventricle interaction and the effects of respiration on this interaction.

  20. Severe Hypoglycemia Caused by Recurrent Sarcomatoid Carcinoma in the Pelvic Cavity

    PubMed Central

    Fang, Chao; Fan, Chuan Wen; Yu, Yong Yang; Wang, Cun; Yang, Lie; Li, Yuan; Mo, Xian Ming; Zhou, Zong Guang

    2015-01-01

    Abstract Nonislet cell tumor hypoglycemia (NICTH) is a paraneoplastic syndrome characterized by persistent, severe hypoglycemia in different tumor types of mesochymal or epithelial origin; however, NICTH is infrequently induced by sarcomatoid carcinoma (SC). Despite some sarcomatoid and epithelioid characteristics in few cases of malignancies from epithelium, NICTH induced by recurrent SC in pelvic cavity in this report is extremely rare. We report a case in which NICTH caused by recurrence and pulmonary metastases from SC in the pelvic cavity, and the computed tomography scan revealed multiple pelvic masses and multiple large masses in the pulmonary fields. During the treatment of intestinal obstruction, the patient presented paroxysmal loss of consciousness and sweating. Her glucose even reached 1.22 mmol/L while the serum glycosylated hemoglobin was normal and previous history of diabetes or use of oral hypoglycemic agents and insulin denied. The laboratory examination showed that the low level of insulin, C-peptide, and growth hormone levels in the course of hypoglycemic episodes suggesting to the diagnosis of hypoglycemia induced by nonislet cell tumor, and the decreased levels of insulin-like growth factor (IGF)-I and IGFBP3 and the high expression of big IGF-II in the serum further confirmed the diagnosis of NICTH. Because of the widely pelvic recurrence and pulmonary metastases were unresected, the patient was discharged from the hospital after 2 weeks treatment with dexamethasone and glucose and unfortunately died 1 week later. NICTH caused by SC in the pelvic cavity is extremely rare case in clinical. The aim of this report was to present the importance to examine big IGF-II expression in patient's serum in order to reach the diagnosis of NICTH in cases of intractable cancer-associated hypoglycemia. PMID:26496258

  1. Brd2 disruption in mice causes severe obesity without Type 2 diabetes.

    PubMed

    Wang, Fangnian; Liu, Hongsheng; Blanton, Wanda P; Belkina, Anna; Lebrasseur, Nathan K; Denis, Gerald V

    2010-01-01

    Certain human subpopulations are metabolically healthy but obese, or metabolically obese but normal weight; such mutations uncouple obesity from glucose intolerance, revealing pathways implicated in Type 2 diabetes. Current searches for relevant genes consume significant effort. We have reported previously a novel double bromodomain protein called Brd2, which is a transcriptional co-activator/co-repressor with SWI/SNF (switch mating type/sucrose non-fermenting)-like functions that regulates chromatin. In the present study, we show that wholebody disruption of Brd2, an unusual MHC gene, causes lifelong severe obesity in mice with pancreatic islet expansion, hyperinsulinaemia, hepatosteatosis and elevated pro-inflammatory cytokines, but, surprisingly, enhanced glucose tolerance, elevated adiponectin, increased weight of brown adipose tissue, heat production and expression of mitochondrial uncoupling proteins in brown adipose tissue, reduced macrophage infiltration in white adipose tissue, and lowered blood glucose, leading to an improved metabolic profile and avoiding eventual Type 2 diabetes. Brd2 is highly expressed in pancreatic beta-cells, where it normally inhibits beta-cell mitosis and insulin transcription. In 3T3-L1 pre-adipocytes, Brd2 normally co-represses PPAR-gamma (peroxisome-proliferator-activated receptor-gamma) and inhibits adipogenesis. Brd2 knockdown protects 3T3-L1 adipocytes from TNF-alpha (tumour necrosis factor-alpha)-induced insulin resistance, thereby decoupling inflammation from insulin resistance. Thus hypomorphic Brd2 shifts energy balance toward storage without causing glucose intolerance and may provide a novel model for obese metabolically healthy humans. PMID:19883376

  2. Iliac arteriovenous fistula due to spinal disk surgery. Causes severe hemodynamic repercussion with pulmonary hypertension.

    PubMed Central

    Machado-Atías, I; Fornés, O; González-Bello, R; Machado-Hernández, I

    1993-01-01

    We present a case of a 46-year-old man with a pulsatile mass in the left inferior abdominal quadrant that irradiated a continuous murmur extending to the left lumbar region. Despite an 8-year history of cardiomegaly, he appeared to be asymptomatic except for the mass and could recollect no traumatic injury or surgery that might have caused it. Near the vertebral column, we found a small scar, the result of spinal disk surgery 11 years before. Following chest radiography and electrocardiography, we located the suspected arteriovenous fistula by selective angiography of the aorta and its branches: a communication of the left iliac artery with the left iliac vein had resulted in a very large left-to-right shunt and a severely dilated inferior vena cava. We then divided and isolated the arterial segment containing the fistula, but left this segment in continuity with the left iliac vein by over-sewing both ends. To avoid injury to surrounding structures, dissection was limited to the area of maximal thrill. Hemodynamic improvement was immediate, and the postoperative course was uneventful. At the present time, almost 3 years postoperatively, the patient is asymptomatic. Images PMID:8508067

  3. Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding

    PubMed Central

    Canault, Matthias; Ghalloussi, Dorsaf; Grosdidier, Charlotte; Guinier, Marie; Perret, Claire; Chelghoum, Nadjim; Germain, Marine; Raslova, Hana; Peiretti, Franck; Morange, Pierre E.; Saut, Noemie; Pillois, Xavier; Nurden, Alan T.; Cambien, François; Pierres, Anne; van den Berg, Timo K.; Kuijpers, Taco W.; Tregouet, David-Alexandre

    2014-01-01

    The nature of an inherited platelet disorder was investigated in three siblings affected by severe bleeding. Using whole-exome sequencing, we identified the culprit mutation (cG742T) in the RAS guanyl-releasing protein-2 (RASGRP2) gene coding for calcium- and DAG-regulated guanine exchange factor-1 (CalDAG-GEFI). Platelets from individuals carrying the mutation present a reduced ability to activate Rap1 and to perform proper αIIbβ3 integrin inside-out signaling. Expression of CalDAG-GEFI mutant in HEK293T cells abolished Rap1 activation upon stimulation. Nevertheless, the PKC- and ADP-dependent pathways allow residual platelet activation in the absence of functional CalDAG-GEFI. The mutation impairs the platelet’s ability to form thrombi under flow and spread normally as a consequence of reduced Rac1 GTP-binding. Functional deficiencies were confined to platelets and megakaryocytes with no leukocyte alteration. This contrasts with the phenotype seen in type III leukocyte adhesion deficiency caused by the absence of kindlin-3. Heterozygous did not suffer from bleeding and have normal platelet aggregation; however, their platelets mimicked homozygous ones by failing to undergo normal adhesion under flow and spreading. Rescue experiments on cultured patient megakaryocytes corrected the functional deficiency after transfection with wild-type RASGRP2. Remarkably, the presence of a single normal allele is sufficient to prevent bleeding, making CalDAG-GEFI a novel and potentially safe therapeutic target to prevent thrombosis. PMID:24958846

  4. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

    PubMed Central

    Hempel, Maja; Cremer, Kirsten; Ockeloen, Charlotte W.; Lichtenbelt, Klaske D.; Herkert, Johanna C.; Denecke, Jonas; Haack, Tobias B.; Zink, Alexander M.; Becker, Jessica; Wohlleber, Eva; Johannsen, Jessika; Alhaddad, Bader; Pfundt, Rolph; Fuchs, Sigrid; Wieczorek, Dagmar; Strom, Tim M.; van Gassen, Koen L.I.; Kleefstra, Tjitske; Kubisch, Christian; Engels, Hartmut; Lessel, Davor

    2015-01-01

    CHAMP1 encodes a protein with a function in kinetochore-microtubule attachment and in the regulation of chromosome segregation, both of which are known to be important for neurodevelopment. By trio whole-exome sequencing, we have identified de novo deleterious mutations in CHAMP1 in five unrelated individuals affected by intellectual disability with severe speech impairment, motor developmental delay, muscular hypotonia, and similar dysmorphic features including short philtrum and a tented upper and everted lover lip. In addition to two frameshift and one nonsense mutations, we found an identical nonsense mutation, c.1192C>T (p.Arg398∗), in two affected individuals. All mutations, if resulting in a stable protein, are predicted to lead to the loss of the functionally important zinc-finger domains in the C terminus of the protein, which regulate CHAMP1 localization to chromosomes and the mitotic spindle, thereby providing a mechanistic understanding for their pathogenicity. We thus establish deleterious de novo mutations in CHAMP1 as a cause of intellectual disability. PMID:26340335

  5. Intrapartum Diagnosis and Treatment of Longitudinal Vaginal Septum

    PubMed Central

    de França Neto, Antonio Henriques; Nóbrega, Bianca Virgolino; Clementino Filho, Jessé; do Ó, Tiago Cavalcanti; de Amorim, Melania Maria Ramos

    2014-01-01

    Longitudinal vaginal septum is a rare Müllerian malformation that may be associated with dyspareunia, dysmenorrhea, primary amenorrhea, and infertility. In this report, the authors present a case of longitudinal vaginal septum in a 15-year-old patient with a full-term pregnancy whose diagnosis was only made during labor following bidigital vaginal and speculum examination. Septoplasty was performed during the second stage of labor. Both mother and child progressed satisfactorily and were discharged from hospital in good health. Six months later, ultrasonography, hysterosalpingography, and hysteroscopy were carried out and no other associated abnormality was found. PMID:24891963

  6. A systematic review of causes of sudden and severe headache (Thunderclap Headache): should lists be evidence based?

    PubMed Central

    2014-01-01

    Background There are many potential causes of sudden and severe headache (thunderclap headache), the most important of which is aneurysmal subarachnoid haemorrhage. Published academic reviews report a wide range of causes. We sought to create a definitive list of causes, other than aneurysmal subarachnoid haemorrhage, using a systematic review. Methods Systematic Review of EMBASE and MEDLINE databases using pre-defined search criteria up to September 2009. We extracted data from any original research paper or case report describing a case of someone presenting with a sudden and severe headache, and summarized the published causes. Results Our search identified over 21,000 titles, of which 1224 articles were scrutinized in full. 213 articles described 2345 people with sudden and severe headache, and we identified 6 English language academic review articles. A total of 119 causes were identified, of which 46 (38%) were not mentioned in published academic review articles. Using capture-recapture analysis, we estimate that our search was 98% complete. There is only one population-based estimate of the incidence of sudden and severe headache at 43 cases per 100,000. In cohort studies, the most common causes identified were primary headaches or headaches of uncertain cause. Vasoconstriction syndromes are commonly mentioned in case reports or case series. The most common cause not mentioned in academic reviews was pneumocephalus. 70 non-English language articles were identified but these did not contain additional causes. Conclusions There are over 100 different published causes of sudden and severe headache, other than aneurysmal subarachnoid haemorrhage. We have now made a definitive list of causes for future reference which we intend to maintain. There is a need for an up to date population based description of cause of sudden and severe headache as the modern epidemiology of thunderclap headache may require updating in the light of research on cerebral

  7. Suppression of severe lesions, myonecrosis and hemorrhage, caused by Protobothrops flavoviridis venom with its serum proteins.

    PubMed

    Chijiwa, Takahito; So, Shuhei; Hattori, Shosaku; Yoshida, Aichi; Oda-Ueda, Naoko; Ohno, Motonori

    2013-12-15

    Protobothrops flavoviridis serum proteins precipitated with ammonium sulfate were chromatographed on a DEAE-Toyopearl 650M column at pH 7.5 with stepwise increase or with linear gradient of NaCl concentration. Peaks 3 and 4 serum proteins, obtained by linear gradient elution and named Fr(de3) and Fr(de4), contained Habu serum factors (HSF) and phospholipase A2 (PLA2) inhibitors (PfPLI), respectively. The serum proteins eluted at 0.2 M NaCl by stepwise elution, named Fr(0.2NaCl), effectively suppressed myonecrosis and hemorrhage caused by P. flavoviridis venom in rat or mouse thigh muscles. The Fr(0.2NaCl) were fractionated by HPLC and the fractions, after SDS-PAGE, underwent far-western blot analysis with PLA2 ([Asp(49)]PLA2) and BPI ([Lys(49)]PLA2) as the probes. Four PfPLIs, namely, PfαPLI-A, PfαPLI-B, PfγPLI-A and PfγPLI-B, were identified together with their selective binding specificities to PLA2 species. In addition, a new 9 kDa protein, which is specifically bound to BPI, was found. Suppression of P. flavoviridis venom-induced severe lesions, such as myonecrosis, hemorrhage and edema, with its serum proteins was histopathologically observed in the present work for the first time. The cooperative use of P. flavoviridis antivenom and its serum proteins as medication for P. flavoviridis snake bites is discussed. PMID:24139850

  8. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.

    PubMed

    Alston, Charlotte L; Compton, Alison G; Formosa, Luke E; Strecker, Valentina; Oláhová, Monika; Haack, Tobias B; Smet, Joél; Stouffs, Katrien; Diakumis, Peter; Ciara, Elżbieta; Cassiman, David; Romain, Nadine; Yarham, John W; He, Langping; De Paepe, Boel; Vanlander, Arnaud V; Seneca, Sara; Feichtinger, René G; Płoski, Rafal; Rokicki, Dariusz; Pronicka, Ewa; Haller, Ronald G; Van Hove, Johan L K; Bahlo, Melanie; Mayr, Johannes A; Van Coster, Rudy; Prokisch, Holger; Wittig, Ilka; Ryan, Michael T; Thorburn, David R; Taylor, Robert W

    2016-07-01

    Complex I deficiency is the most common biochemical phenotype observed in individuals with mitochondrial disease. With 44 structural subunits and over 10 assembly factors, it is unsurprising that complex I deficiency is associated with clinical and genetic heterogeneity. Massively parallel sequencing (MPS) technologies including custom, targeted gene panels or unbiased whole-exome sequencing (WES) are hugely powerful in identifying the underlying genetic defect in a clinical diagnostic setting, yet many individuals remain without a genetic diagnosis. These individuals might harbor mutations in poorly understood or uncharacterized genes, and their diagnosis relies upon characterization of these orphan genes. Complexome profiling recently identified TMEM126B as a component of the mitochondrial complex I assembly complex alongside proteins ACAD9, ECSIT, NDUFAF1, and TIMMDC1. Here, we describe the clinical, biochemical, and molecular findings in six cases of mitochondrial disease from four unrelated families affected by biallelic (c.635G>T [p.Gly212Val] and/or c.401delA [p.Asn134Ilefs(∗)2]) TMEM126B variants. We provide functional evidence to support the pathogenicity of these TMEM126B variants, including evidence of founder effects for both variants, and establish defects within this gene as a cause of complex I deficiency in association with either pure myopathy in adulthood or, in one individual, a severe multisystem presentation (chronic renal failure and cardiomyopathy) in infancy. Functional experimentation including viral rescue and complexome profiling of subject cell lines has confirmed TMEM126B as the tenth complex I assembly factor associated with human disease and validates the importance of both genome-wide sequencing and proteomic approaches in characterizing disease-associated genes whose physiological roles have been previously undetermined. PMID:27374774

  9. A Trans-Acting Protein Effect Causes Severe Eye Malformation in the Mp Mouse

    PubMed Central

    Rainger, Joe; Keighren, Margaret; Keene, Douglas R.; Charbonneau, Noe L.; Rainger, Jacqueline K.; Fisher, Malcolm; Mella, Sebastien; Huang, Jeffrey T-J.; Rose, Lorraine; van't Hof, Rob; Sakai, Lynne Y.; Jackson, Ian J.; FitzPatrick, David R.

    2013-01-01

    Mp is an irradiation-induced mouse mutation associated with microphthalmia, micropinna and hind limb syndactyly. We show that Mp is caused by a 660 kb balanced inversion on chromosome 18 producing reciprocal 3-prime gene fusion events involving Fbn2 and Isoc1. The Isoc1-Fbn2 fusion gene (Isoc1Mp) mRNA has a frameshift and early stop codon resulting in nonsense mediated decay. Homozygous deletions of Isoc1 do not support a significant developmental role for this gene. The Fbn2-Isoc1 fusion gene (Fbn2 Mp) predicted protein consists of the N-terminal Fibrillin-2 (amino acids 1–2646, exons 1–62) lacking the C-terminal furin-cleavage site with a short out-of-frame extension encoded by the final exon of Isoc1. The Mp limb phenotype is consistent with that reported in Fbn2 null embryos. However, severe eye malformations, a defining feature of Mp, are not seen in Fbn2 null animals. Fibrillin-2Mp forms large fibrillar structures within the rough endoplasmic reticulum (rER) associated with an unfolded protein response and quantitative mass spectrometry shows a generalised defect in protein secretion in conditioned media from mutant cells. In the embryonic eye Fbn2 is expressed within the peripheral ciliary margin (CM). Mp embryos show reduced canonical Wnt-signalling in the CM – known to be essential for ciliary body development - and show subsequent aplasia of CM-derived structures. We propose that the Mp “worse-than-null” eye phenotype plausibly results from a failure in normal trafficking of proteins that are co-expressed with Fbn2 within the CM. The prediction of similar trans-acting protein effects will be an important challenge in the medical interpretation of human mutations from whole exome sequencing. PMID:24348270

  10. Divergent Simian Arteriviruses Cause Simian Hemorrhagic Fever of Differing Severities in Macaques

    PubMed Central

    Moncla, Louise H.; Weiler, Andrea M.; Charlier, Olivia; Rojas, Oscar; Byrum, Russell; Ragland, Dan R.; Cohen, Melanie; Sanford, Hannah B.; Qin, Jing

    2016-01-01

    ABSTRACT Simian hemorrhagic fever (SHF) is a highly lethal disease in captive macaques. Three distinct arteriviruses are known etiological agents of past SHF epizootics, but only one, simian hemorrhagic fever virus (SHFV), has been isolated in cell culture. The natural reservoir(s) of the three viruses have yet to be identified, but African nonhuman primates are suspected. Eleven additional divergent simian arteriviruses have been detected recently in diverse and apparently healthy African cercopithecid monkeys. Here, we report the successful isolation in MARC-145 cell culture of one of these viruses, Kibale red colobus virus 1 (KRCV-1), from serum of a naturally infected red colobus (Procolobus [Piliocolobus] rufomitratus tephrosceles) sampled in Kibale National Park, Uganda. Intramuscular (i.m.) injection of KRCV-1 into four cynomolgus macaques (Macaca fascicularis) resulted in a self-limiting nonlethal disease characterized by depressive behavioral changes, disturbance in coagulation parameters, and liver enzyme elevations. In contrast, i.m. injection of SHFV resulted in typical lethal SHF characterized by mild fever, lethargy, lymphoid depletion, lymphoid and hepatocellular necrosis, low platelet counts, increased liver enzyme concentrations, coagulation abnormalities, and increasing viral loads. As hypothesized based on the genetic and presumed antigenic distance between KRCV-1 and SHFV, all four macaques that had survived KRCV-1 injection died of SHF after subsequent SHFV injection, indicating a lack of protective heterotypic immunity. Our data indicate that SHF is a disease of macaques that in all likelihood can be caused by a number of distinct simian arteriviruses, although with different severity depending on the specific arterivirus involved. Consequently, we recommend that current screening procedures for SHFV in primate-holding facilities be modified to detect all known simian arteriviruses. PMID:26908578

  11. LocZ Is a New Cell Division Protein Involved in Proper Septum Placement in Streptococcus pneumoniae

    PubMed Central

    Holečková, Nela; Molle, Virginie; Buriánková, Karolína; Benada, Oldřich; Kofroňová, Olga; Ulrych, Aleš; Branny, Pavel

    2014-01-01

    ABSTRACT How bacteria control proper septum placement at midcell, to guarantee the generation of identical daughter cells, is still largely unknown. Although different systems involved in the selection of the division site have been described in selected species, these do not appear to be widely conserved. Here, we report that LocZ (Spr0334), a newly identified cell division protein, is involved in proper septum placement in Streptococcus pneumoniae. We show that locZ is not essential but that its deletion results in cell division defects and shape deformation, causing cells to divide asymmetrically and generate unequally sized, occasionally anucleated, daughter cells. LocZ has a unique localization profile. It arrives early at midcell, before FtsZ and FtsA, and leaves the septum early, apparently moving along with the equatorial rings that mark the future division sites. Consistently, cells lacking LocZ also show misplacement of the Z-ring, suggesting that it could act as a positive regulator to determine septum placement. LocZ was identified as a substrate of the Ser/Thr protein kinase StkP, which regulates cell division in S. pneumoniae. Interestingly, homologues of LocZ are found only in streptococci, lactococci, and enterococci, indicating that this close phylogenetically related group of bacteria evolved a specific solution to spatially regulate cell division. PMID:25550321

  12. Ectopic Acromegaly Arising from a Pituitary Adenoma within the Bony Intersphenoid Septum of a Patient with Empty Sella Syndrome

    PubMed Central

    Arzamendi, Audrey E.; Shahlaie, Kiarash; Latchaw, Richard E.; Lechpammer, Mirna; Arzumanyan, Hasmik

    2016-01-01

    Objective  To describe the work-up and treatment of rare ectopic acromegaly caused by a biopsy-proven somatotroph pituitary adenoma located within the bony intersphenoid septum of a patient with empty sella syndrome (ESS). Methods  We report the presentation, clinical course, diagnostic work-up, and lesion localization and treatment challenges encountered in a 55-year-old patient, with a brief review of relevant literature. Results  A 55-year-old African-American man presented with acromegaly and ESS. Attempts to definitively localize the causative tumor were unsuccessful, though petrosal sinus sampling supported central growth hormone production and imaging suggested bone-enclosed subsellar pituitary tissue. Endoscopic endonasal transphenoidal exploration was undertaken with resection of a somatotroph pituitary microadenoma, and subsequent clinical improvement and biochemical remission. Retrospective review revealed the patient's pituitary to have been located ectopically within a unique bony intersphenoid septum. Conclusion  This report describes the first known case of an ectopic pituitary adenoma located within the midline bony intersphenoid septum, which we postulate to have resulted from anomalous embryological pituitary migration. Intra-intersphenoid septal tumors should be considered in cases of apparent central acromegaly with ESS or absence of tumor tissue within the paranasal sinuses or other peripheral locations. Indexing  Acromegaly, ESS, pituitary adenoma, sphenoid sinus septum. PMID:27468406

  13. Cooperation between Paxillin-like Protein Pxl1 and Glucan Synthase Bgs1 Is Essential for Actomyosin Ring Stability and Septum Formation in Fission Yeast

    PubMed Central

    G. Cortés, Juan C.; Pujol, Nuria; Sato, Mamiko; Pinar, Mario; Ramos, Mariona; Moreno, Belén; Osumi, Masako; Ribas, Juan Carlos; Pérez, Pilar

    2015-01-01

    In fungal cells cytokinesis requires coordinated closure of a contractile actomyosin ring (CAR) and synthesis of a special cell wall structure known as the division septum. Many CAR proteins have been identified and characterized, but how these molecules interact with the septum synthesis enzymes to form the septum remains unclear. Our genetic study using fission yeast shows that cooperation between the paxillin homolog Pxl1, required for ring integrity, and Bgs1, the enzyme responsible for linear β(1,3)glucan synthesis and primary septum formation, is required for stable anchorage of the CAR to the plasma membrane before septation onset, and for cleavage furrow formation. Thus, lack of Pxl1 in combination with Bgs1 depletion, causes failure of ring contraction and lateral cell wall overgrowth towards the cell lumen without septum formation. We also describe here that Pxl1 concentration at the CAR increases during cytokinesis and that this increase depends on the SH3 domain of the F-BAR protein Cdc15. In consequence, Bgs1 depletion in cells carrying a cdc15ΔSH3 allele causes ring disassembly and septation blockage, as it does in cells lacking Pxl1. On the other hand, the absence of Pxl1 is lethal when Cdc15 function is affected, generating a large sliding of the CAR with deposition of septum wall material along the cell cortex, and suggesting additional functions for both Pxl1 and Cdc15 proteins. In conclusion, our findings indicate that CAR anchorage to the plasma membrane through Cdc15 and Pxl1, and concomitant Bgs1 activity, are necessary for CAR maintenance and septum formation in fission yeast. PMID:26132084

  14. Cooperation between Paxillin-like Protein Pxl1 and Glucan Synthase Bgs1 Is Essential for Actomyosin Ring Stability and Septum Formation in Fission Yeast.

    PubMed

    Cortés, Juan C G; Pujol, Nuria; Sato, Mamiko; Pinar, Mario; Ramos, Mariona; Moreno, Belén; Osumi, Masako; Ribas, Juan Carlos; Pérez, Pilar

    2015-07-01

    In fungal cells cytokinesis requires coordinated closure of a contractile actomyosin ring (CAR) and synthesis of a special cell wall structure known as the division septum. Many CAR proteins have been identified and characterized, but how these molecules interact with the septum synthesis enzymes to form the septum remains unclear. Our genetic study using fission yeast shows that cooperation between the paxillin homolog Pxl1, required for ring integrity, and Bgs1, the enzyme responsible for linear β(1,3)glucan synthesis and primary septum formation, is required for stable anchorage of the CAR to the plasma membrane before septation onset, and for cleavage furrow formation. Thus, lack of Pxl1 in combination with Bgs1 depletion, causes failure of ring contraction and lateral cell wall overgrowth towards the cell lumen without septum formation. We also describe here that Pxl1 concentration at the CAR increases during cytokinesis and that this increase depends on the SH3 domain of the F-BAR protein Cdc15. In consequence, Bgs1 depletion in cells carrying a cdc15ΔSH3 allele causes ring disassembly and septation blockage, as it does in cells lacking Pxl1. On the other hand, the absence of Pxl1 is lethal when Cdc15 function is affected, generating a large sliding of the CAR with deposition of septum wall material along the cell cortex, and suggesting additional functions for both Pxl1 and Cdc15 proteins. In conclusion, our findings indicate that CAR anchorage to the plasma membrane through Cdc15 and Pxl1, and concomitant Bgs1 activity, are necessary for CAR maintenance and septum formation in fission yeast. PMID:26132084

  15. The Causes of Blindness in Childhood; A Study of 776 Children with Severe Visual Handicaps.

    ERIC Educational Resources Information Center

    Fraser, G.R.; Friedman, A.I.

    To investigate causes of blindness in childhood, 776 children (infancy to 20 years old) in special schools were seen in 1963. Examinations, parent questionnaires, and correspondence with health personnel were used to obtain etiological data. Causes of blindness mainly of genetic determination described are choroido-retinal degenerations,…

  16. Disruption of Germination and Seedling Development in Brassica napus by Mutations Causing Severe Seed Hormonal Imbalance.

    PubMed

    Nguyen, Tung C T; Obermeier, Christian; Friedt, Wolfgang; Abrams, Suzanne R; Snowdon, Rod J

    2016-01-01

    The Brassica napus (oilseed rape) accession 1012-98 shows a disturbed germination phenotype that was thought to be associated with its lack of testa pigmentation and thin seed coat. Here, we demonstrate that the disturbed germination and seedling development are actually due to independent mutations that disrupt the balance of hormone metabolites and their regulators in the seeds. High-throughput UPLC-MS/MS hormone profiling of seeds and seedlings before and after germination revealed that 1012-98 has a severely disturbed hormone balance with extremely atypical, excessive quantities of auxin and ABA metabolites. The resulting hypersensitivity to abscisic acid (ABA) and a corresponding increase in dormancy often results in death of the embryo after imbibition or high frequencies of disturbed, often lethal developmental phenotypes, resembling Arabidopsis mutants for the auxin regulatory factor gene ARF10 or the auxin-overproducing transgenic line iaaM-OX. Molecular cloning of Brassica ARF10 orthologs revealed four loci in normal B. napus, two derived from the Brassica A genome and two from the C genome. On the other hand, the phenotypic mutant 1012-98 exhibited amplification of C-genome BnaC.ARF10 copy number along with a chimeric allele originating from recombination between homeologous A and C genome loci which lead to minor increase of Bna.ARF10 transcription on the critical timepoint for seed germination, the indirect regulator of ABI3, the germinative inhibitor. Bna.GH3.5 expression was upregulated to conjugate free auxin to IAA-asp between 2 and 6 DAS. Functional amino acid changes were also found in important DNA binding domains of one BnaC.ARF10 locus, suggesting that regulatory changes in Bna.ARF10 are collectively responsible for the observed phenotpyes in 1012-98. To our knowledge, this study is the first to report disruption of germination and seedling development in Brassica napus caused by the crosstalk of auxin-ABA and the corresponding regulators Bna

  17. Disruption of Germination and Seedling Development in Brassica napus by Mutations Causing Severe Seed Hormonal Imbalance

    PubMed Central

    Nguyen, Tung C. T.; Obermeier, Christian; Friedt, Wolfgang; Abrams, Suzanne R.; Snowdon, Rod J.

    2016-01-01

    The Brassica napus (oilseed rape) accession 1012-98 shows a disturbed germination phenotype that was thought to be associated with its lack of testa pigmentation and thin seed coat. Here, we demonstrate that the disturbed germination and seedling development are actually due to independent mutations that disrupt the balance of hormone metabolites and their regulators in the seeds. High-throughput UPLC-MS/MS hormone profiling of seeds and seedlings before and after germination revealed that 1012-98 has a severely disturbed hormone balance with extremely atypical, excessive quantities of auxin and ABA metabolites. The resulting hypersensitivity to abscisic acid (ABA) and a corresponding increase in dormancy often results in death of the embryo after imbibition or high frequencies of disturbed, often lethal developmental phenotypes, resembling Arabidopsis mutants for the auxin regulatory factor gene ARF10 or the auxin-overproducing transgenic line iaaM-OX. Molecular cloning of Brassica ARF10 orthologs revealed four loci in normal B. napus, two derived from the Brassica A genome and two from the C genome. On the other hand, the phenotypic mutant 1012-98 exhibited amplification of C-genome BnaC.ARF10 copy number along with a chimeric allele originating from recombination between homeologous A and C genome loci which lead to minor increase of Bna.ARF10 transcription on the critical timepoint for seed germination, the indirect regulator of ABI3, the germinative inhibitor. Bna.GH3.5 expression was upregulated to conjugate free auxin to IAA-asp between 2 and 6 DAS. Functional amino acid changes were also found in important DNA binding domains of one BnaC.ARF10 locus, suggesting that regulatory changes in Bna.ARF10 are collectively responsible for the observed phenotpyes in 1012-98. To our knowledge, this study is the first to report disruption of germination and seedling development in Brassica napus caused by the crosstalk of auxin-ABA and the corresponding regulators Bna

  18. Severe Community-Acquired Pneumonia with Bacteremia Caused by Herbaspirillum aquaticum or Herbaspirillum huttiense in an Immune-Competent Adult

    PubMed Central

    Kimball, Joanna; Smith, L. Patrick; Salzer, William

    2015-01-01

    Herbaspirillum spp. are Gram-negative bacteria that inhabit soil and water. Infections caused by these organisms have been reported in immunocompromised hosts. We describe severe community-acquired pneumonia and bacteremia caused by Herbaspirillum aquaticum or H. huttiense in an immunocompetent adult male. PMID:26179298

  19. [Septic shock in 23 year old female patient after surgical correction of the nasal septum effectively treated in the intensive care unit].

    PubMed

    Greberski, Krzysztof; Kilanowska, Magdalena; Bugajski, Paweł; Rzymski, Stanisław; Jarząbek, Radosław; Kalawski, Ryszard

    2015-12-01

    A female patient 23 years old was admitted to the medical intensive care unit due to sudden loss of consciousness and seizures. At the time of admition observed lack of consciousness, seizures and severe critical condition was observed. Meningitis and septic shock were diagnosed. Based on computed tomography performed on the first day--inflammation of the sinuses soft tissues was diagnosed. Suspected cause of infection was performed 6 weeks earlier surgical correction of the nasal septum. In the next stage of treatment on the seventh day after admission the functional endoscopic sinus surgery was performed. Due to massive tissue hypoperfusion the necrosis in the skin of the lower limbs occurred. Due to the lack of effectiveness antimicrobial therapy use of intravenous ceftaroline was administrated. Effective treatment allowed in day 11 to wean the patient from the ventilator. At the day 26 the patient was transferred to a hospital in the place of residence. PMID:26802691

  20. Successful pregnancy outcome in an untreated case of concomitant transverse complete vaginal septum with unicornuate uterus

    PubMed Central

    Kumar, Naina; Tayade, Surekha

    2014-01-01

    Transverse vaginal septum is a result of faulty canalization of embryonic vagina. Septum may be complete but usually has laterally placed tiny hole giving an impression of vaginal vault without cervix. We described a case of untreated transverse vaginal septum with small central aperture diagnosed during labor and unicornuate uterus diagnosed intraoperatively, with successful pregnancy outcome. PMID:25624665

  1. Cephalhematoma Causing Severe Anemia in the Newborn: Report of 2 Cases

    PubMed Central

    Osaghae, DO; Sule, G; Benka-Coker, J

    2011-01-01

    This report describes two newborns with massive Cephalhematoma leading to marked blood loss and severe anemia. The hematocrits were 19% and 13% respectively. The babies were managed with blood transfusion, phototherapy, antibiotics and dexamethasone. PMID:23209978

  2. An unexpected cause of severe and refractory PTH-independent hypercalcemia: case report and literature review.

    PubMed

    Rados, Dimitris Varvaki; Furlanetto, Tania Weber

    2015-06-01

    Hypercalcemia is a common condition in the internal medicine practice. Sometimes its cause is not readily apparent, so extensive investigation is appropriate. Here we report an unexpected cause for hypercalcemia in an elderly woman. The case of an 82-years old woman with PTH-independent hypercalcemia, lymphocytosis, normal serum 1,25 (OH)vitamin D levels, and low serum PTHrp levels, is described. Medical history and complementary investigation were unremarkable, except for increased metabolic activity in the glutei regions, as measured by whole body 18F-FDG PET-CT. Reviewing her medical history, her sister recalled that she had been submitted to intramuscular methylmethacrylate injections, for cosmetic purposes, five years before presentation, which was confirmed by muscle biopsy. Low calcium intake, parenteral bisphosphonates, calcitonin, and glucocorticoids were used to control serum calcium levels. Methylmethacrylate injections, used cosmetically, are a new cause for hypercalcemia, even after many years. Hypercalcemia was probably due to calcitriol overproduction in foreign body granulomas. Persistent reactive lymphocytosis could be a clue for this inflammatory cause of hypercalcemia. PMID:26154099

  3. RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy.

    PubMed

    Aeby, Alec; Prigogine, Cynthia; Vilain, Catheline; Malfilatre, Geneviève; Jaeken, Jaak; Lederer, Damien; Van Bogaert, Patrick

    2016-03-01

    RFT1-congenital disorder of glycosylation (CDG) syndrome, a recessive N-glycosylation disorder caused by mutation in the RFT1 gene, is a very rare subtype of CDG syndrome associated with deafness, developmental delay, and non-specific epilepsy. The aim of this report is to describe the electroclinical presentation of epilepsy associated with this condition. [Published with video sequences online]. PMID:26892341

  4. Smokers Beware: Study Shows Increased Cadmium Levels in the Brain May Cause Severe Neurological Disorders

    ERIC Educational Resources Information Center

    King, Angela G.

    2005-01-01

    Tobacco is one crop that accumulates cadmium, making smokers susceptible to higher levels of the metal in their bodies. The findings suggest that even a low-level exposure to a heavy metal like cadmium is likely to cause a change in the functions of neurons in the brain and the behavioral response to drugs of abuse.

  5. [Massive hookworm infection as a cause of intestinal bleeding and severe anemia].

    PubMed

    Nair, Gayatri V; Cazorla, Ernesto; Choque, Henry; White, A Clinton; Cabada, Miguel M

    2016-01-01

    Overt gastrointestinal bleeding caused by hookworm infection is rarely reported. We present a 34 year old male with lower gastrointestinal bleeding with evidence of massive hookworm infection on colonoscopy and discuss the need to consider hookworm infection as a possible etiology of gastrointestinal bleed in endemic areas. PMID:27131948

  6. Aberrant coagulation causes a hyper-inflammatory response in severe influenza pneumonia

    PubMed Central

    Yang, Yan; Tang, Hong

    2016-01-01

    Influenza A virus (IAV) infects the respiratory tract in humans and causes significant morbidity and mortality worldwide each year. Aggressive inflammation, known as a cytokine storm, is thought to cause most of the damage in the lungs during IAV infection. Dysfunctional coagulation is a common complication in pathogenic influenza, manifested by lung endothelial activation, vascular leak, disseminated intravascular coagulation and pulmonary microembolism. Importantly, emerging evidence shows that an uncontrolled coagulation system, including both the cellular (endothelial cells and platelets) and protein (coagulation factors, anticoagulants and fibrinolysis proteases) components, contributes to the pathogenesis of influenza by augmenting viral replication and immune pathogenesis. In this review, we focus on the underlying mechanisms of the dysfunctional coagulatory response in the pathogenesis of IAV. PMID:27041635

  7. β-Tubulin mutations that cause severe neuropathies disrupt axonal transport

    PubMed Central

    Niwa, Shinsuke; Takahashi, Hironori; Hirokawa, Nobutaka

    2013-01-01

    Microtubules are fundamental to neuronal morphogenesis and function. Mutations in tubulin, the major constituent of microtubules, result in neuronal diseases. Here, we have analysed β-tubulin mutations that cause neuronal diseases and we have identified mutations that strongly inhibit axonal transport of vesicles and mitochondria. These mutations are in the H12 helix of β-tubulin and change the negative charge on the surface of the microtubule. This surface is the interface between microtubules and kinesin superfamily motor proteins (KIF). The binding of axonal transport KIFs to microtubules is dominant negatively disrupted by these mutations, which alters the localization of KIFs in neurons and inhibits axon elongation in vivo. In humans, these mutations induce broad neurological symptoms, such as loss of axons in the central nervous system and peripheral neuropathy. Thus, our data identified the critical region of β-tubulin required for axonal transport and suggest a molecular mechanism for human neuronal diseases caused by tubulin mutations. PMID:23503589

  8. β-Tubulin mutations that cause severe neuropathies disrupt axonal transport.

    PubMed

    Niwa, Shinsuke; Takahashi, Hironori; Hirokawa, Nobutaka

    2013-05-15

    Microtubules are fundamental to neuronal morphogenesis and function. Mutations in tubulin, the major constituent of microtubules, result in neuronal diseases. Here, we have analysed β-tubulin mutations that cause neuronal diseases and we have identified mutations that strongly inhibit axonal transport of vesicles and mitochondria. These mutations are in the H12 helix of β-tubulin and change the negative charge on the surface of the microtubule. This surface is the interface between microtubules and kinesin superfamily motor proteins (KIF). The binding of axonal transport KIFs to microtubules is dominant negatively disrupted by these mutations, which alters the localization of KIFs in neurons and inhibits axon elongation in vivo. In humans, these mutations induce broad neurological symptoms, such as loss of axons in the central nervous system and peripheral neuropathy. Thus, our data identified the critical region of β-tubulin required for axonal transport and suggest a molecular mechanism for human neuronal diseases caused by tubulin mutations. PMID:23503589

  9. Aberrant coagulation causes a hyper-inflammatory response in severe influenza pneumonia.

    PubMed

    Yang, Yan; Tang, Hong

    2016-07-01

    Influenza A virus (IAV) infects the respiratory tract in humans and causes significant morbidity and mortality worldwide each year. Aggressive inflammation, known as a cytokine storm, is thought to cause most of the damage in the lungs during IAV infection. Dysfunctional coagulation is a common complication in pathogenic influenza, manifested by lung endothelial activation, vascular leak, disseminated intravascular coagulation and pulmonary microembolism. Importantly, emerging evidence shows that an uncontrolled coagulation system, including both the cellular (endothelial cells and platelets) and protein (coagulation factors, anticoagulants and fibrinolysis proteases) components, contributes to the pathogenesis of influenza by augmenting viral replication and immune pathogenesis. In this review, we focus on the underlying mechanisms of the dysfunctional coagulatory response in the pathogenesis of IAV. PMID:27041635

  10. Imaging characteristics of disseminated Geosmithia argillacea causing severe diskospondylitis and meningoencephalomyelitis in a dog

    PubMed Central

    Kawalilak, Lukas T; Chen, Annie V; Roberts, Greg R

    2015-01-01

    Key Clinical Message A 4-year-old male castrated Labrador Retriever presented for severe spinal pain. Radiographs and magnetic resonance imaging showed evidence of diskospondylitis and meningoencephalomyelitis. Blood culture revealed a Geosmithia argillacea fungal infection after DNA sequencing, initially misdiagnosed as Penicillium species. Geosmithia argillacea should be considered as a differential for disseminated fungal diskospondylitis. PMID:26576269

  11. A severe nervous disease in fancy pigeons caused by paramyxovirus-1 in Saudi Arabia.

    PubMed

    al Afaleq, A I; Abu Elzein, E M; Gameel, A A; Awaad, M; Hassanein, M M

    1993-01-01

    A severe nervous disease struck fancy pigeons for the first time in Saudi Arabia during February-March, 1992. The morbidity rate was 60% while the case fatality rate was 40%. An avian paramyxovirus-1 was isolated from affected pigeons. The disease was reproduced experimentally in pigeons and the virus was reisolated and identified. PMID:8073168

  12. DID A SEVERE FLOOD IN THE MIDWEST CAUSE AN INCREASE IN THE INCIDENCE OF GASTROINTESTINAL ILLNESS?

    EPA Science Inventory

    Severe flooding occurred in the midwestern United States in 2001. Since November 2000, coincidentally, data on gastrointestinal symptoms had been collected for a drinking water intervention study in a community along the Mississippi River that was affected by the flood. After t...

  13. [Perineural cysts causing severe back pain and pathological fracture of the massa lateralis of the sacrum].

    PubMed

    Buschmann, C; Spies, C K G; Maus, U; Mumme, T; Ohnsorge, J A K

    2009-01-01

    We report on the case of an 81-year-old woman who was hospitalised because of severe pain at the sacro-iliacal joint radiating into the left leg without any accompanying neurological defect. X-rays demonstrated a step in the left massa lateralis of the sacrum, thus CT scans and MRI were performed, and multiple perineural cysts (Tarlov's cysts) were found. The patient underwent microsurgical treatment by fenestration of the cyst wall and evacuation of the fluid content in order to avoid further expansion of the cysts. Under consequent treatment with pain killers, complete mobilisation of the patient could be achieved. Ambulant follow-up by clinical controls and X-rays demonstrated a substantial resolution of the patient's preoperative symptoms. Symptomatic perineural cysts should be included into differential diagnosis of severe low back pain, thus CT or MRI scans should be performed in case of long-lasting or intrackable pain. PMID:19263313

  14. Severe Rhabdomyolysis Caused by Plasmodium vivax Malaria in the Brazilian Amazon

    PubMed Central

    Siqueira, André M.; Alexandre, Márcia A. A.; Mourão, Maria P. G.; Santos, Valquir S.; Nagahashi-Marie, Suely K.; Alecrim, Maria G. C.; Lacerda, Marcus V. G.

    2010-01-01

    Severe rhabdomyolysis (creatine phosphokinase = 29,400U/L) developed in a 16-year-old boy from Manaus, Brazil, after he started treatment with chloroquine for infection with Plasmodium vivax. Treatment led to myoglobinuria and acute renal failure. After hemodialysis, the patient improved and a muscle biopsy specimen showed no myophosphorylase or deaminase deficiency. This case of rhabdomyolysis associated with P. vivax infection showed no comorbidities. The pathogenesis is still unclear. Although rhabdomyolysis is generally reported as a complication of Plasmodium falciparum malaria, leading to metabolic and renal complications,1 it has been reported in a patient with P. vivax infection with myoadenylate deaminase deficiency.2 We report a case in a patient without typical muscle enzyme deficiencies in which severe rhabdomyolysis developed while the patients was being treated with chloroquine for a confirmed P. vivax infection. PMID:20682866

  15. Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy.

    PubMed Central

    Talbot, K; Rodrigues, N; Bernert, G; Bittner, R; Davies, K

    1996-01-01

    Spinal muscular atrophy is an autosomal recessive disease of motor neurone degeneration which shows a variable phenotype. Two candidate genes show deletions in affected subjects but with no distinction between different forms of the disease. We report an unusual family in which mild and severe SMA coexists and patients are deleted for the SMN gene. The father is affected with late onset SMA; therefore this family shows pseudodominant inheritance. When typed using closely linked flanking markers the severely affected son does not share the same haplotype as his sib, who is deleted for SMN but shows no signs yet of SMA. This supports the hypothesis that differences in SMA phenotype can be explained by a multiple allele model. Images PMID:9004135

  16. Labetalol infusion for refractory hypertension causing severe hypotension and bradycardia: an issue of patient safety.

    PubMed

    Fahed, Samir; Grum, Daniel F; Papadimos, Thomas J

    2008-01-01

    Incremental doses of intravenous labetalol are safe and effective and, at times, such therapy may need to be augmented by a continuous infusion of labetalol to control severe hypertension. Continuous infusions of labetalol may exceed the recommended maximum daily dose of 300 mg on occasion. We report a case in which hypertension occurring after an abdominal aortic aneurysm repair, initially responsive to intermittent intravenous beta-blockade, became resistant to this therapy leading to the choice of an intravenous labetalol infusion as the therapeutic option. The labetalol infusion resulted in a profound cardiovascular compromise in this postoperative critically ill patient. While infusions of labetalol have successfully been used, prolonged administration in the intensive care unit requires vigilance and the establishment of a therapeutic rationale/policy for interventions, such as the ready availability of glucagon, beta-agonists, phosphodiesterase inhibitors, insulin, and vasopressin when severe cardiovascular depression occurs. PMID:18505576

  17. Methemoglobinemia due to quinine causing severe acute kidney injury in a child

    PubMed Central

    Kudale, S.; Sethi, S. K.; Dhaliwal, M.; Kher, V.

    2014-01-01

    Congenital methemoglobinemia is a rare condition resulting from a deficiency of nicotinamide adenine dinucleotide-cytochrome b5 reductase. Acquired methemoglobinemia may result due to certain drugs, chemicals and food items. Information on epidemiological determinants from India is sparse. This report describes methemoglobinemia in a 4-year-old child after parenteral administration of quinine causing acute kidney injury. This case emphasizes the need of awareness of potential adverse events of antimalarial drugs. Prompt management of methemoglobinemia is essential to avoid potential life-threatening complications. PMID:25484537

  18. One-stage treatment of acquired facial deformity caused by severe unilateral condylar hyperplasia.

    PubMed

    Butt, Fawzia M A; Guthua, Simon Wangombe; Nganga, Peter; Edalia, Michael; Dimba, Elizabeth A O

    2011-09-01

    Condylar hyperplasia (CH) is a rare and self-limiting process manifesting between the first and third decades of life. It causes facial asymmetry and derangement of occlusion. The management involves resection of the condylar head and orthognathic surgery followed by orthodontic treatment. We present a 33-year-old man with spontaneous onset of CH during a span of 10 years. This was managed with resection of the condyle alone, which dramatically improved facial asymmetry in addition to restoration of the occlusion within a few months of follow-up. Therefore, orthognathic surgery or orthodontic treatment was not needed. PMID:21959484

  19. Carcinoma of the recto-vaginal septum. Comprehensive literature review.

    PubMed

    Lopez, N; Grabowski, J P; De Santiago, J; Zapardiel, I

    2016-05-01

    Carcinoma of the recto-vaginal septum is an extremely rare entity. We performed a MEDLINE-based search on recto-vaginal septum carcinoma, focussing on its management, in order to clarify which are the best treatment options for this disease. In addition an unpublished case report has been added to the review. 34 case reports were included in our review. Surgery and adjuvant chemoradiation therapy seem to be the most common treatment option. However, since primary surgical treatment leads to mutilation by removing a large portion of the vagina and the anal sphincter with a permanent terminal colostomy, primary platinum-based chemoradiation therapy could be considered. In case of extragastrointestinal stromal tumours primary surgical treatment seems to be the best option. Due to the rarity of this entity only limited data is available. Therefore further investigation is necessary. PMID:26467428

  20. Complete bicornuate uterus with complete transverse vaginal septum

    PubMed Central

    Tehrani, Hatav Ghasemi; Hashemi, Leila; Ghasemi, Mojdeh

    2014-01-01

    Bicornuate uterus has two symmetric uterine cavities that are fused caudally and have some degree of communication between two cavities, usually at the uterine isthmus. A complete bicornuate uterus has a seperatory cleft of tissue that is extended to the internal OS. Lesser degree of septation of the two uterine horns has constitution, a partial bicornuate uterus. Bicornuate uterus is a class of four anomaly of American fertility society classification of mullerian anomalies. Here we report a case of a 19-year-old female patient with complaint of abdominal pain and spotting since 4 months ago. In sonography it revealed bicornuate uterus and hematocolpos. The patient underwent general anesthesia and examination that reveal the transverse vaginal septum. Septum removed by resectoscope was successful. PMID:25097613

  1. Echinococcal Cyst of the Interventricular Septum with Right Ventricular Protrusion

    PubMed Central

    Eren, E. Ergin; Aykut, Serap; Kayihan, Attila; Aydogan, Hakki; Dagsali, Sabri

    1989-01-01

    Although echinococcosis (echinococcal hydatidosis) is common in sheep-raising countries such as Turkey, cardiac involvement is rare; the presence of a hydatid cyst in the interventricular septum is rarer still. We report a case of hydatid cyst of the interventricular septum that was first revealed by 2-dimensional echocardiography and then confirmed by right ventricular angiography. The cyst was removed surgically under cardiopulmonary bypass. Within the context of the medical literature concerning this rare lesion, we discuss this case and 10 other cases of cardiac hydatidosis, previously unreported in the world literature, that we have treated from January 1967 through January 1987. (Texas Heart Institute Journal 1989;16:292-5) Images PMID:15227384

  2. Early Stage Relapsing Polychondritis Diagnosed by Nasal Septum Biopsy

    PubMed Central

    Kobayashi, Takaaki; Moody, Sandra; Komori, Masafumi; Jibatake, Akira; Yaegashi, Makito

    2015-01-01

    Relapsing polychondritis is a rare inflammation of cartilaginous tissues, the diagnosis of which is usually delayed by a mean period of 2.9 years from symptom onset. We present the case of a 36-year-old man with nasal pain and fever. Physical examination of the nose was grossly unremarkable, but there was significant tenderness of the nasal bridge. Acute sinusitis was initially diagnosed due to thickened left frontal sinus mucosa on computed tomography (CT); however, there was no improvement after antibiotic intake. Repeat CT showed edematous inflammation of the nasal septum; biopsy of this site demonstrated erosion and infiltration of lymphocytes, plasma cells, eosinophils, and neutrophils in the hyaline cartilage. Relapsing polychondritis was confirmed by the modified McAdam's criteria and can be diagnosed at an early stage by nasal septum biopsy; it should be considered as a differential diagnosis in patients presenting with nasal symptoms alone or persistent sinus symptoms. PMID:26843866

  3. Eikenella corrodens: an unusual cause of severe parapneumonic infection and empyema in immunocompetent patients.

    PubMed Central

    Hoyler, S. L.; Antony, S.

    2001-01-01

    Over the past 25 years, Eikenella corrodens has increasingly been recognized for its pathogenic potential. Previously identified as an organism most likely to cause opportunistic infection in the immunocompromised host, Eikenella more recently has been implicated in a number of clinical infections in non-immunocompromised patients. We report a case of community-acquired pneumonia, caused by Eikenella, in a patient with diabetes mellitus and a past history of testicular cancer. A review of the literature was conducted in order to review other cases of pulmonary infection with Eikenella, in immunocompetent adults. The condition was diagnosed in 15 patients, occurring most often in men with a mean age of 50. Patients most often presented with fever, cough and pleuritic chest pain. Complications often involved parapneumonic effusion, empyema, and necrotic parenchymal disease. Mortality rates appear to be low. Eikenella is most often susceptible to ampicillin and has variable susceptibility to aminoglycosides. The addition of clindamycin in non-immunocompromised patients with Eikenella infection, co-infected with other pathogens, also appears to be useful. Surgical intervention plays an important role in the recovery of these patients. PMID:11446395

  4. Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages

    PubMed Central

    Bär, Harald; Mücke, Norbert; Kostareva, Anna; Sjöberg, Gunnar; Aebi, Ueli; Herrmann, Harald

    2005-01-01

    Desmin is the major intermediate filament (IF) protein of muscle. Recently, mutations of the desmin gene have been reported to cause familial or sporadic forms of human skeletal, as well as cardiac, myopathy, termed desmin-related myopathy (DRM). The impact of any of these mutations on filament assembly and integration into the cytoskeletal network of myocytes is currently not understood, despite the fact that all cause the same histopathological defect, i.e., desmin aggregation. To gain more insight into the molecular basis of this process, we investigated how mutations within the α-helical rod domain of desmin affect both the assembly of the recombinant protein in vitro as well as the filament-forming capacity in cDNA-transfected cells. Whereas 6 of 14 mutants assemble into seemingly normal IFs in the test tube, the other mutants interfere with the assembly process at distinct stages, i.e., tetramer formation, unit-length filament (ULF) formation, filament elongation, and IF maturation. Correspondingly, the mutants with in vitro assembly defects yield dot-like aggregates in transfected cells, whereas the mutants that form IFs constitute a seemingly normal IF cytoskeleton in the cellular context. At present, it is entirely unclear why the latter mutant proteins also lead to aggregate formation in myocytes. Hence, these findings may be a starting point to dissect the contribution of the individual subdomains for desmin pathology and, eventually, the development of therapeutic interventions. PMID:16217025

  5. Urorectal septum malformation sequence in a newborn with VACTERL association.

    PubMed

    Patra, Soumya; Purkait, Radheshyam

    2012-02-01

    Urorectal septum malformation sequence (URSMS) is an extremely rare anomaly, consists of multiple system anomalies including ambiguous genitalia, absence of a perineal opening, an imperforate anus, and urological, colonic and lumbosacral defects. We describe a newborn with characteristic URSMS who also had features of congenital varus deformity of leg, polydactyly, tracheo-oesophageal fistula, cardiac defect, anal atresia and hydronephrosis in antenatal ultrasound characteristic of VACTERL association. PMID:22313652

  6. Partial tearing of the interventricular septum after blunt chest trauma.

    PubMed

    López-Ruiz, Nilson; Ramírez Gil, Lucas

    2015-01-01

    Cardiac trauma after blunt chest trauma is a rare complication of patients arriving alive to an emergency department. We here present the case of patient who had a partial rupture of the interventricular septum after having had a blunt chest trauma in a traffic accident. As there was no ventricular septal defect, conservative management was deemed appropriate. At 3-year follow-up, the patient was free of right heart failure symptoms suggestive of the septal defect progression. PMID:26031362

  7. Severe Lung Lesions Caused by Salmonella Are Prevented by Inhibition of the Contact System

    PubMed Central

    Persson, Kristin; Mörgelin, Matthias; Lindbom, Lennart; Alm, Per; Björck, Lars; Herwald, Heiko

    2000-01-01

    Vascular damage induced by trauma, inflammation, or infection results in an alteration of the endothelium from a nonactivated to a procoagulant, vasoconstrictive, and proinflammatory state, and can lead to life-threatening complications. Here we report that activation of the contact system by Salmonella leads to massive infiltration of red blood cells and fibrin deposition in the lungs of infected rats. These pulmonary lesions were prevented when the infected animals were treated with H-D-Pro-Phe-Arg-chloromethylketone, an inhibitor of coagulation factor XII and plasma kallikrein, suggesting that inhibition of contact system activation could be used therapeutically in severe infectious disease. PMID:11085744

  8. Large Cardiac Hydatid Cyst in the Interventricular Septum

    PubMed Central

    Ipek, Gokhan; Omeroglu, Suat Nail; Goksedef, Deniz; Balkanay, Ozan Onur; Kanbur, Elmas; Engin, Ersoy; Baskurt, Murat; Kucukoglu, Serdar

    2011-01-01

    Cystic hydatid disease results from infection with the larval or adult form of the Echinococcus granulosus tapeworm. Cardiac involvement is seen in 0.5% to 2% of patients with hydatid disease, and involvement of the interventricular septum is even rarer. Herein, we report our surgical treatment of a large cardiac hydatid cyst in the interventricular septum. A 39-year-old woman presented with dyspnea. Transthoracic echocardiography revealed a large cyst in the apical part of the interventricular septum. Thoracic computed tomography showed a cystic lesion in that site, and magnetic resonance imaging confirmed the presence of a 50 × 55-mm mass. The patient was placed on cardiopulmonary bypass. Hypertonic saline solution-soaked sponges were distributed within the pericardial cavity to prevent local invasion of the parasite intraoperatively. Through an incision parallel to the left anterior descending coronary artery, and without opening adjacent cardiac chambers, we aspirated the entire contents of the cyst, removed its germinative membrane, and washed the cavity with 20% hypertonic saline solution. The patient recovered uneventfully. She had begun taking albendazole 5 days preoperatively, and this therapy was continued for 12 weeks postoperatively. In cases of an interventricular cardiac hydatid cyst, the combination of surgical resection, washout of the remaining cavity with hypertonic saline solution, and albendazole therapy typically yields excellent results. PMID:22199447

  9. Design of the PEP-II Interaction Region Septum Quadrupole

    NASA Astrophysics Data System (ADS)

    Osborn, J.; Tanabe, J.; Yee, D.; Younger, F.

    1997-05-01

    The PEP-II QF2 magnet is one of the final focus quadrupoles for the Low-Energy Ring (LER) and utilizes a septum aperture to accommodate the adjacent High-Energy Ring (HER) beamline. The LER lattice design specification calls for an extremely high field quality for this magnet. A conventional water-cooled copper coil and laminated steel core design was selected to allow adjustment in the excitation. The close proximity between the LER and HER beamlines and the required integrated quadrupole strength result in a moderately high current density septum design. The QF2 magnets are imbedded in a confined region at each end of the BaBar detector, thus requiring a small magnet core cross section. Pole face windings are included in the QF2 design to buck the skew octupole term induced by the solenoidal fringe field that leaks out of the detector. Back-leg windings are included to buck a small dipole component induced by the lack of perfect quadrupole symmetry in this septum design. 2D pole contour optimization and 3D end chamfers are used to minimize harmonic errors; a separate permanent-magnet Harmonic Corrector Ring compensates for remaining field errors. The design methods and approach, 2D and 3D analyses, and the resulting expected magnet performance are described in this paper.

  10. Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.

    PubMed

    McNally, E M; Passos-Bueno, M R; Bönnemann, C G; Vainzof, M; de Sá Moreira, E; Lidov, H G; Othmane, K B; Denton, P H; Vance, J M; Zatz, M; Kunkel, L M

    1996-11-01

    Autosomal recessive muscular dystrophy is genetically heterogeneous. One form of this disorder, limb-girdle muscular dystrophy type 2C (LGMD 2C), is prevalent in northern Africa and has been shown to be associated with a single mutation in the gene encoding the dystrophin-associated protein gamma-sarcoglycan. The previous mutation analysis of gamma-sarcoglycan required the availability of muscle biopsies. To establish a mutation assay for genomic DNA, the intron-exon structure of the gamma-sarcoglycan gene was determined, and primers were designed to amplify each of the exons encoding gamma-sarcoglycan. We studied a group of Brazilian muscular dystrophy patients for mutations in the gamma-sarcoglycan gene. These patients were selected on the basis of autosomal inheritance and/or the presence of normal dystrophin and/or deficiency of alpha-sarcoglycan immunostaining. Four of 19 patients surveyed had a single, homozygous mutation in the gamma-sarcoglycan gene. The mutation identified in these patients, all of African-Brazilian descent, is identical to that seen in the North African population, suggesting that even patients of remote African descent may carry this mutation. The phenotype in these patients varied considerably. Of four families with an identical mutation, three have a severe Duchenne-like muscular dystrophy. However, one family has much milder symptoms, suggesting that other loci may be present that modify the severity of the clinical course resulting from gamma-sarcoglycan gene mutations. PMID:8900232

  11. Neutrophil Extracellular Trap-Related Extracellular Histones Cause Vascular Necrosis in Severe GN.

    PubMed

    Kumar, Santhosh V R; Kulkarni, Onkar P; Mulay, Shrikant R; Darisipudi, Murthy N; Romoli, Simone; Thomasova, Dana; Scherbaum, Christina R; Hohenstein, Bernd; Hugo, Christian; Müller, Susanna; Liapis, Helen; Anders, Hans-Joachim

    2015-10-01

    Severe GN involves local neutrophil extracellular trap (NET) formation. We hypothesized a local cytotoxic effect of NET-related histone release in necrotizing GN. In vitro, histones from calf thymus or histones released by neutrophils undergoing NETosis killed glomerular endothelial cells, podocytes, and parietal epithelial cells in a dose-dependent manner. Histone-neutralizing agents such as antihistone IgG, activated protein C, or heparin prevented this effect. Histone toxicity on glomeruli ex vivo was Toll-like receptor 2/4 dependent, and lack of TLR2/4 attenuated histone-induced renal thrombotic microangiopathy and glomerular necrosis in mice. Anti-glomerular basement membrane GN involved NET formation and vascular necrosis, whereas blocking NET formation by peptidylarginine inhibition or preemptive anti-histone IgG injection significantly reduced all aspects of GN (i.e., vascular necrosis, podocyte loss, albuminuria, cytokine induction, recruitment or activation of glomerular leukocytes, and glomerular crescent formation). To evaluate histones as a therapeutic target, mice with established GN were treated with three different histone-neutralizing agents. Anti-histone IgG, recombinant activated protein C, and heparin were equally effective in abrogating severe GN, whereas combination therapy had no additive effects. Together, these results indicate that NET-related histone release during GN elicits cytotoxic and immunostimulatory effects. Furthermore, neutralizing extracellular histones is still therapeutic when initiated in established GN. PMID:25644111

  12. Mild and severe muscular dystrophy caused by a single {gamma}-sarcoglycan mutation

    SciTech Connect

    McNally, E.M.; Boennemann, C.G.; Lidov, H.G.W.

    1996-11-01

    Autosomal recessive muscular dystrophy is genetically heterogeneous. One form of this disorder, limb-girdle muscular dystrophy type 2C (LGMD 2C), is prevalent in northern Africa and has been shown to be associated with a single mutation in the gene encoding the dystrophin-associated protein {gamma}-sarcoglycan. The previous mutation analysis of {gamma}-sarcoglycan required the availability of muscle biopsies. To establish a mutation assay for genomic DNA, the intron-exon structure of the {gamma}-sarcoglycan gene was determined, and primers were designed to amplify each of the exons encoding {gamma}-sarcoglycan. We studied a group of Brazilian muscular dystrophy patients for mutations in the {gamma}-sarcoglycan gene. These patients were selected on the basis of autosomal inheritance and/or the presence of normal dystrophin and/or deficiency of {alpha}-sarcoglycan immunostaining. Four of 19 patients surveyed had a single, homozygous mutation in the {gamma}-sarcoglycan gene. The mutation identified in these patients, all of African-Brazilian descent, is identical to that seen in the North African population, suggesting that even patients of remote African descent may carry this mutation. The phenotype in these patients varied considerably. Of four families with an identical mutation, three have a severe Duchenne-like muscular dystrophy. However, one family has much milder symptoms, suggesting that other loci may be present that modify the severity of the clinical course resulting from {gamma}-sarcoglycan gene mutations. 19 refs., 5 figs., 3 tabs.

  13. Severe Abdominal Pain Caused by Lead Toxicity without Response to Oral Chelators: A Case Report

    PubMed Central

    Vossoughinia, Hassan; Pourakbar, Ali; Esfandiari, Samaneh; Sharifianrazavi, Masoud

    2016-01-01

    A 19-year-old woman was referred to the Emergency Surgery Department with severe abdominal pain, icterus, and anemia. The patient’s clinical and paraclinical findings in addition to her occupational and social history, convinced us to assay blood lead level (BLL), which was 41/5 μg/dL. Therefore toxicology consult was performed to treat lead toxicity. Recheck of the BLL showed the level as 53/7 μg/dL. So oral chelator with succimer was started. Despite consumption of oral chelator, there was no response and the pain continued. Because our repeated evaluations were negative, we decided to re-treat lead poisoning by intravenous and intramuscular chelators. Dimercaprol (BAL) + calcium EDTA was started, and after 5 days, the pain relieved dramatically and the patient was discharged. We recommend more liberal lead poisoning therapy in symptomatic patients, and also suggest parenteral chelator therapy, which is more potent, instead of oral chelators in patients with severe symptoms. PMID:26933485

  14. Root causes for late presentation of severe neonatal hyperbilirubinaemia in Egypt.

    PubMed

    Iskander, I; Gamaleldin, R; Kabbani, M

    2012-08-01

    This study aimed to understand the reasons for late presentation of cases of severe neonatal hyperbilirubinaemia. We administered a questionnaire to parents of 130 infants with severe jaundice admitted to Cairo University Children's Hospital neonatal intensive care unit at age > or = 6 days over an 18-month period. Although 125 infants (96.2%) were delivered in a health care facility, no discharge physical examination was performed in 99/125 cases (79.2%). No parent was given instructions about neonatal jaundice and no follow-up appointments were scheduled. Parents of 109 infants sought medical advice prior to hospital readmission; most babies were assessed clinically, but serum bilirubin was measured in only one-quarter of cases (28/109). Medical advice included placing the infant under a neon lamp at home (87/109 cases), advice to supplement breastfeeding (75/109) and prescribed medications, including vitamins (15/109). Increasing the availability of inexpensive point-of-care diagnostic instruments and phototherapy units in health care facilities are urgently needed. PMID:23057379

  15. Absence of Dap12 and the αvβ3 integrin causes severe osteopetrosis

    PubMed Central

    Zou, Wei

    2015-01-01

    In vitro, ligand occupancy of αvβ3 integrin induces phosphorylation of Dap12, which is essential for osteoclast function. Like mice deleted of only αvβ3, Dap12−/− mice exhibited a slight increase in bone mass, but Dap12−/− mice, lacking another ITAM protein, FcRγ, were severely osteopetrotic. The mechanism by which FcRγ compensates for Dap12 deficiency is unknown. We find that co-deletion of FcRγ did not exacerbate the skeletal phenotype of β3−/− mice. In contrast, β3/Dap12 double-deficient (DAP/β3−/−) mice (but not β1/Dap12 double-deficient mice) were profoundly osteopetrotic, reflecting severe osteoclast dysfunction relative to those lacking αvβ3 or Dap12 alone. Activation of OSCAR, the FcRγ co-receptor, rescued Dap12−/− but not DAP/β3−/−osteoclasts. Thus, the absence of αvβ3 precluded compensation for Dap12 deficiency by FcRγ. In keeping with this, Syk phosphorylation did not occur in OSCAR-activated DAP/β3−/− osteoclasts. Thus, FcRγ requires the osteoclast αvβ3 integrin to normalize the Dap12-deficient skeleton. PMID:25547154

  16. An unlikely cause of severe malnutrition in a 3-year-old girl with previous gastroschisis

    PubMed Central

    Ashton, J J; Blackburn, S; Burge, D; Beattie, R M

    2014-01-01

    A 3-year-old girl with previous gastroschisis associated with jejunal and colonic atresia presented with severe oedema, abdominal pain and diarrhoea. Clinically she was malnourished. Serum albumin and concentrations of micronutrients were low. A barium meal examination showed jejunal dilation. A stricture was suspected and the patient was taken to theatre where an 8 cm length of bowel was resected including a jejunal stricture at the point of previous atresia repair. Inside the proximal dilated jejunum was a large trichobezoar (hairball), thought to be acting as a ball valve inside the bowel. This girl made a rapid recovery after surgery. Her nutritional state improved, symptoms resolved and serum biochemistry normalised. She remains well at follow-up with normal blood results, normal albumin and no diarrhoea. PMID:25183805

  17. [Rare infection--prolonged A. naeslundii bacteremia caused by severe caries].

    PubMed

    Abozaid, Said; Peretz, Avi; Nasser, Wael; Zarfin, Yehoshua

    2013-07-01

    Actinomyces is an anaerobic, gram positive, rod shape bacteria that doesn't create spores. Actinomyces is part of the mouth, intestines, vagina and upper respiratory system flora. The infection appears mostly on the face, neck, abdomen and pelvis in cases of mucosa injury and most common in immunosuppressed patients. The spread of Actinomyces through the blood system is rare. In this article we present a 9 year old male patient with no history of diseases who was diagnosed with prolonged bacteremia of A. naeslundii without specific infection excluding severe caries. Characterization of bacteria from the blood culture was performed by molecular biology and the patient was treated with Ampicillin and tooth extraction that led to the disappearance of the bacteremia. PMID:23957079

  18. An unlikely cause of severe malnutrition in a 3-year-old girl with previous gastroschisis.

    PubMed

    Ashton, J J; Blackburn, S; Burge, D; Beattie, R M

    2014-01-01

    A 3-year-old girl with previous gastroschisis associated with jejunal and colonic atresia presented with severe oedema, abdominal pain and diarrhoea. Clinically she was malnourished. Serum albumin and concentrations of micronutrients were low. A barium meal examination showed jejunal dilation. A stricture was suspected and the patient was taken to theatre where an 8 cm length of bowel was resected including a jejunal stricture at the point of previous atresia repair. Inside the proximal dilated jejunum was a large trichobezoar (hairball), thought to be acting as a ball valve inside the bowel. This girl made a rapid recovery after surgery. Her nutritional state improved, symptoms resolved and serum biochemistry normalised. She remains well at follow-up with normal blood results, normal albumin and no diarrhoea. PMID:25183805

  19. An outbreak in 1965 of severe respiratory illness caused by the Legionnaires' disease bacterium.

    PubMed

    Thacker, S B; Bennett, J V; Tsai, T F; Fraser, D W; McDade, J E; Shepard, C C; Williams, K H; Stuart, W H; Dull, H B; Eickhoff, T C

    1978-10-01

    In January 1977 an unsolved outbreak of infection at St. Elizabeth's Hospital (Washington, D.C.) that occurred in 1965 was linked with Legionnaires' disease. The link was made by fluorescent antibody testing with the bacterium isolated from tissues of persons with Legionnaires' disease in the 1976 outbreak in Philadelphia. In July and August 1965, an epidemic of severe respiratory disease characterized by abrupt onset of high fever, weakness, malaise, and nonproductive cough, frequently accompanied by radiographic evidence of pneumonia, affected at least 81 patients at St. Elizabeth's Hospital, a general psychiatric hospital. Fourteen (17%) of the affected patients died. Intensive epidemiologic and laboratory investigations in 1965 did not determine the etiology. The etiologic organism may have become airborne from sites of soil excavation. PMID:361897

  20. A case of Tannerite(®) target mixture causing severe blast injury.

    PubMed

    Rebowe, Ryan E; Harbour, Patrick; Carter, Jeffrey E; Molnar, Joseph Andrew

    2016-06-01

    Tannerite(®) is a proprietary blend of an oxidizer, ammonium nitrate, and aluminum powder catalyst used to make homemade exploding targets. While it is currently approved for unrestricted sale in the United States, it can be used to form devices capable of inflicting major blast injury. We present here a case of close proximity exposure to detonation of the mixed Tannerite(®) blend. In our patient, the exposure lead to injuries typical of blast injury, such as tympanic membrane rupture, globe injury, and severe burns. We review here the sequelae of blast injuries that one must consider when treating a patient with close proximity exposure to Tannerite, with considerations unique to this product. PMID:26906669

  1. Accessory Cavitated Uterine Mass: A Rare Cause of Severe Dysmenorrhea in Young Women.

    PubMed

    Paul, P G; Chopade, Gaurav; Das, Tanuka; Dhivya, N; Patil, Saurabh; Thomas, Manju

    2015-01-01

    We present 3 case reports of a rare Müllerian anomaly called accessory and cavitated uterine mass (ACUM), which is found in young women >30 years of age. They presented with severe dysmenorrhea refractory to medical treatment. The patients were 17, 19, and 25 years old. The patients had the classic Müllerian anomalies. The hysteroscopic examination was normal in all 3 cases, and laparoscopic examination showed a 3- to 4-cm ill-defined mass on the right half of the uterus, without any communication to the uterine cavity. The chocolate-colored material was drained in all of the cases, during excision of the mass. The myometrial defect was sutured laparoscopically. On histological examination, the mass was found to be a cystic cavity, lined by endometrial glands and stroma, which confirmed the diagnosis of ACUM. PMID:26093186

  2. Dilated aortic root and severe aortic regurgitation causing dilated cardiomyopathy in classic Ehlers-Danlos syndrome.

    PubMed

    Zainal, Abir; Hamad, Mahmoud Nidal; Naqvi, Syed Yaseen

    2016-01-01

    Ehlers-Danlos syndrome (EDS) is a group of heritable disorders characterised by vast clinical heterogeneity ranging from the classic constellation of symptoms including skin hyperextensibility, joint hypermobility and skin fragility to the exceedingly critical consequences of arterial rupture and visceral perforation. We describe the case of a 65-year-old male with a history of classic EDS who reported of dyspnoea on exertion, orthopnoea, fatigue and palpitations. He was found to have dilated cardiomyopathy with an ejection fraction of 35%, aortic root dilation and severe aortic valve regurgitation. The authors intend to draw attention to the rare cardiac manifestations of this condition and the therapeutic challenges involved in managing such patients. PMID:27413024

  3. Gingival overgrowth caused by vitamin C deficiency associated with metabolic syndrome and severe periodontal infection: a case report.

    PubMed

    Omori, Kazuhiro; Hanayama, Yoshihisa; Naruishi, Koji; Akiyama, Kentaro; Maeda, Hiroshi; Otsuka, Fumio; Takashiba, Shogo

    2014-12-01

    It has been suggested that vitamin C deficiency/scurvy is associated with gingival inflammatory changes; however, the disorder is very infrequently encountered in the modern era. Here, we report a case of extensive gingival overgrowth caused by vitamin C deficiency associated with metabolic syndrome and severe periodontal infection. PMID:25548632

  4. NK cells are intrinsically functional in pigs with Severe Combined Immunodeficiency (SCID) caused by spontaneous mutations in the Artemis gene

    Technology Transfer Automated Retrieval System (TEKTRAN)

    We have identified Severe Combined Immunodeficiency (SCID) in a line of Yorkshire pigs at Iowa State University. These SCID pigs lack B-cells and T-cells, but possess Natural Killer (NK) cells. This SCID phenotype is caused by recessive mutations in the Artemis gene. Interestingly, two human tumor c...

  5. A nairovirus isolated from African bats causes haemorrhagic gastroenteritis and severe hepatic disease in mice.

    PubMed

    Ishii, Akihiro; Ueno, Keisuke; Orba, Yasuko; Sasaki, Michihito; Moonga, Ladslav; Hang'ombe, Bernard M; Mweene, Aaron S; Umemura, Takashi; Ito, Kimihito; Hall, William W; Sawa, Hirofumi

    2014-01-01

    Bats can carry important zoonotic pathogens. Here we use a combination of next-generation sequencing and classical virus isolation methods to identify novel nairoviruses from bats captured from a cave in Zambia. This nairovirus infection is highly prevalent among giant leaf-nosed bats, Hipposideros gigas (detected in samples from 16 individuals out of 38). Whole-genome analysis of three viral isolates (11SB17, 11SB19 and 11SB23) reveals a typical bunyavirus tri-segmented genome. The strains form a single phylogenetic clade that is divergent from other known nairoviruses, and are hereafter designated as Leopards Hill virus (LPHV). When i.p. injected into mice, the 11SB17 strain causes only slight body weight loss, whereas 11SB23 produces acute and lethal disease closely resembling that observed with Crimean-Congo Haemorrhagic Fever virus in humans. We believe that our LPHV mouse model will be useful for research on the pathogenesis of nairoviral haemorrhagic disease. PMID:25451856

  6. A nairovirus isolated from African bats causes haemorrhagic gastroenteritis and severe hepatic disease in mice

    PubMed Central

    Ishii, Akihiro; Ueno, Keisuke; Orba, Yasuko; Sasaki, Michihito; Moonga, Ladslav; Hang’ombe, Bernard M.; Mweene, Aaron S.; Umemura, Takashi; Ito, Kimihito; Hall, William W.; Sawa, Hirofumi

    2014-01-01

    Bats can carry important zoonotic pathogens. Here we use a combination of next-generation sequencing and classical virus isolation methods to identify novel nairoviruses from bats captured from a cave in Zambia. This nairovirus infection is highly prevalent among giant leaf-nosed bats, Hipposideros gigas (detected in samples from 16 individuals out of 38). Whole-genome analysis of three viral isolates (11SB17, 11SB19 and 11SB23) reveals a typical bunyavirus tri-segmented genome. The strains form a single phylogenetic clade that is divergent from other known nairoviruses, and are hereafter designated as Leopards Hill virus (LPHV). When i.p. injected into mice, the 11SB17 strain causes only slight body weight loss, whereas 11SB23 produces acute and lethal disease closely resembling that observed with Crimean–Congo Haemorrhagic Fever virus in humans. We believe that our LPHV mouse model will be useful for research on the pathogenesis of nairoviral haemorrhagic disease. PMID:25451856

  7. [Severe myocardial damage caused by leptospirosis. Report of a fatal case in Mexico].

    PubMed

    Velasco-Castrejón, Oscar; Rivas-Sánchez, Beatriz; Soriano-Rosas, Juan; Rivera-Reyes, Héctor Hugo

    2009-01-01

    Chagasic cardiomyopathy is a common disease in Latin America, however similar clinical pictures exist that can be confused with this, as they give negative results to the tests that detects T. cruzi, like non Chagasic rural endemic chronic cardiopathy, highly common in Venezuela. Using histopathology techniques, "idiopathic cardiomyopathy" is frequently found as the cause of death when the etiology of this disease is not known. This paper presents the case of a man of 26-years-old who died of dilated cardiomyopathy secondary to leptospirosis. Clinically, in addition to the cardiac failure, jaundice, hyperbilirubinemia, transaminases increase, proteinuria and hematuria were present. Initially it was suspected Chagasic cardiomyopathy but the epidemiologic background and the parasitologic and serologic tests for T. cruzi gave negative results. The dark field microscopy videorecording of blood and urine samples, argentic impregnation and immunohistochemistry tests as well as haemoculture in EMJH medium were positive for L. interrogans serovar Pomona. Postmortem we confirmed the presence of leptospira in different tissues through of histopathology, argentic impregnation, indirect immunofluorescence and immunohistochemistry. PMID:20191987

  8. Outcome of Severe Dengue Viral Infection-caused Acute Liver Failure in Thai Children.

    PubMed

    Laoprasopwattana, Kamolwish; Jundee, Puthachat; Pruekprasert, Pornpimol; Geater, Alan

    2016-06-01

    To determine clinical course and outcomes of liver functions in children with dengue viral infection-caused acute liver failure (ALF), the records of patients aged <15 years attending our institution during 1989-2011 were reviewed. Of the 41 ALF patients, 2, 6 and 33 patients had dengue hemorrhagic fever grade II, III and IV, respectively. Multiorgan failure including respiratory failure, massive bleeding and acute kidney injury occurred in 80.0%, 96.0% and 84.0% of the ALF cases, respectively, with an overall fatality rate of 68.3%. Aspartate aminotransferase (AST) and alanine aminotransferase (ALT) levels were highest on the day that the patient developed ALF. Lactate dehydrogenase levels had positive correlations with AST (r = 0.95) and ALT (r = 0.87) (all p < 0.01). The median (interquartile range) days before the AST and ALT levels returned to lower than 200 U/L after the ALF were 10.5 (8.8, 12.8) and 10.5 (7.8, 14.0) days, respectively. PMID:26851434

  9. Severe liver fibrosis caused by Schistosoma mansoni: management and treatment with a transjugular intrahepatic portosystemic shunt.

    PubMed

    Richter, Joachim; Bode, Johannes G; Blondin, Dirk; Kircheis, Gerald; Kubitz, Ralf; Holtfreter, Martha C; Müller-Stöver, Irmela; Breuer, Matthias; Hüttig, Falk; Antoch, Gerald; Häussinger, Dieter

    2015-06-01

    Liver diseases are common in inhabitants and migrants of tropical countries, where the liver can be exposed not only to toxins but also to many viral, bacterial, fungal, and parasitic infections. Schistosomiasis--a common parasitic infection that affects at least 240 million people worldwide, mostly in Africa--is regarded as the most frequent cause of liver fibrosis worldwide. We present a case of a 19-year-old male refugee from Guinea with recurrent oesophageal variceal bleeding due to schistosomal liver fibrosis refractory to endoscopic therapy. This case was an indication for portosystemic surgery, which is a highly invasive non-reversible intervention. An alternative, less invasive, reversible radiological procedure, used in liver cirrhosis, is the placement of a transjugular intrahepatic portosystemic shunt (TIPS). After thorough considerations of all therapeutic options we placed a TIPS in our patient. In more than 3 years of observation, he is clinically well apart from one episode of hepatic encephalopathy related to an acute episode of viral gastroenteritis. Bleeding from oesophageal varices has not recurred. In this Grand Round, we review the diagnostic approaches and treatment options for portal hypertension due to schistosomal liver fibrosis. PMID:25769268

  10. [Sulfite oxidase activity deficiency caused by cofactor molybdenum deficiency: A case of early severe encephalopathy].

    PubMed

    Durousset, C; Gay, C; Magnin, S; Acquaviva, C; Patural, H

    2016-03-01

    Neonatal seizure incidence is approximately 3.5/1000 live births. Inborn metabolic diseases account for approximately 1-4% of neonatal seizure cases. Among them, the catabolism anomaly of sulfite to sulfate caused by sulfite oxidase or cofactor molybdenum deficiency (MoCD) is a rare metabolic disorder in which neurological damage is similar to that found in neonatal asphyxia. We report the case of a newborn child with a MoCD. Born of related parents, this child had intrauterine growth retardation predominating on size diagnosed in the third trimester of pregnancy. After an uneventful birth, he presented convulsions at the 12th hour of life, confirmed by an electroencephalogram. Anticonvulsants and adjuvant treatments were ineffective; the child then required intubation at day 5 of life. The initial biological assessment found an elevated blood lactate level and the chromatography of amino acids showed a significant decrease of cystine and the abnormal presence of sulfocysteine, suggestive of a lack of sulfite oxidase activity. The uric acid level measured secondarily was low, suggesting a MoCD. Brain MRI was performed at day 5 for diffuse ischemic injury of different ages. After limiting acute care, the child died at day 14 of life. The genetic study of the child found a homozygous mutation c.564+1G>A in the MOCS2 gene, confirming the diagnosis of MoCD, present in the heterozygous state in both parents. Investigations in a logical sequence quickly suggested the MoCD diagnosis in presence of a low plasma concentration of cysteine, the abnormal presence of sulfocysteine, and low uric acid levels. The diagnosis of sulfite oxidase deficiency was made. Until now, no treatment has proven effective but a new treatment appears to be effective in cases with a MOCS1 mutation. PMID:26775885

  11. Beneficial effect of cibenzoline on left ventricular pressure gradient with sigmoid septum.

    PubMed

    Konishi, Chika; Shiraishi, Jun; Muraguchi, Naoko; Ohtsuki, Katsuichi; Inoue, Miho; Tatsumi, Tetsuya; Azuma, Akihiro; Matsubara, Hiroaki

    2004-10-01

    An 83-year-old woman with hypertension was admitted to hospital with episodes of dyspnea on effort after having breakfast. Physical examination revealed a systolic murmur at the left sternal border in the third to fourth intercostal space. Cross-sectional echocardiography showed a sigmoid-shaped interventricular septum markedly protruding into the left ventricle, concentric left ventricular hypertrophy, systolic anterior motion of the mitral valve, and a resultant left ventricular outflow tract obstruction with a pressure gradient of 121.8 mmHg. She began daily treatment with 60 mg metoprolol. However, the chest symptoms were not relieved and the left ventricular outflow tract obstruction was still visible on echocardiography. She was then given 200 mg daily of cibenzoline, in addition to 40 mg metoprolol, and the left ventricular pressure gradient significantly decreased and she was free of symptoms without any complications. This case shows that cibenzoline may be useful in the treatment of left ventricular outflow tract obstruction caused by sigmoid septum. PMID:15459474

  12. A rare genetic disorder causing persistent severe neonatal hypoglycaemia the diagnostic workup.

    PubMed

    Francescato, Gaia; Salvatoni, Alessandro; Persani, Luca; Agosti, Massimo

    2012-01-01

    We report a case of familial glucocorticoid deficiency (FGD), a rare genetic autosomal-recessive disorder with typical hyperpigmentation of the skin and mucous membranes, severe hypoglycaemia, occasionally leading to seizures and coma, feeding difficulties, failure to thrive and infections. A newborn child was admitted, on his second day of life, to our neonatal intensive care unit because of seizures and respiratory insufficiency. Hyperpigmentation was not evident due to his Senegalese origin. The clinical presentation led us to consider a wide range of diagnostic hypothesis. Laboratory findings brought us to the diagnosis of FGD that was confirmed by molecular analysis showing an MC2R:p.Y254C mutation previously reported as causative of type 1 FGD and two novel heterozygous non-synonymous single-nucleotide polymorphisms in exon 2 and 3 of melanocortin 2 receptor accessory protein-α, whose role in the disease is currently unknown. The importance of an early collection and storage of blood samples during hypoglycaemic event is emphasised. PMID:22814974

  13. Lighter Ingestion as an Uncommon Cause of Severe Vomiting in a Schizophrenia Patient

    PubMed Central

    Cagin, Yasir Furkan; Erdogan, Mehmet Ali; Bilgic, Yılmaz; Bestas, Remzi; Seckin, Yüksel

    2016-01-01

    Background. Foreign bodies in the gastrointestinal tract are important morbid and mortal clinical conditions. Particularly, emergency treatment is required for cutting and drilling bodies. The majority of ingested foreign bodies (80–90%) leave gastrointestinal tract without creating problems. In 10–20% of cases, intervention is absolutely required. Less than 1% of cases need surgery. In this paper, we present a schizophrenia patient who swallowed multiple lighters. Case. A 21-year-old male schizophrenic patient who uses psychotic drugs presented to the emergency department with the complaints of abdominal pain, severe vomiting, and inability to swallow for a week. His physical examination revealed epigastric tenderness. A plain radiograph of the abdomen revealed multiple tiny metallic densities. Gastroscopy was performed. The lighters were not allowing the passage, and some of them had penetrated the gastric mucosa, and bezoars were observed. One lighter was extracted with the help of the polypectomy snare. Other lighters as a bezoar were removed by surgery. Conclusion. Excessive vomiting of swallowed foreign bodies in the etiology of psychotic patients should be kept in mind. Endoscopic therapy can be performed in the early stages in these patients, but in the late stage surgery is inevitable. PMID:27525133

  14. Systemic PPARγ deletion causes severe disturbance in fluid homeostasis in mice.

    PubMed

    Zhou, Li; Panasiuk, Alexandra; Downton, Maicy; Zhao, Daqiang; Yang, Baoxue; Jia, Zhanjun; Yang, Tianxin

    2015-11-01

    The pharmacological action of peroxisome proliferator-activated receptor (PPAR)γ in promoting sodium and water retention is well documented as highlighted by the major side-effect of body weight gain and edema associated with thiazolidinedione use. However, a possible physiological role of PPARγ in regulation of fluid metabolism has not been reported by previous studies. Here we analyzed fluid metabolism in inducible whole-body PPARγ knockout mice. The null mice developed severe polydipsia and polyuria, reduced urine osmolality, and modest hyperphagia. The phenomenon persisted during 3 days of pair feeding and pair drinking, accompanied by progressive weight loss. After 24 h water deprivation, the null mice had a lower urine osmolality, a higher urine volume, a greater weight loss, and a greater rise in hematocrit than the floxed control. Urinary vasopressin (AVP) excretion was not different between the genotypes under basal condition or after WD. The response of urine osmolality to acute and chronic 1-desamino-8-D-arginine vasopressin treatment was attenuated in the null mice, but the total abundance or phosphorylation of aquaporin 2 (AQP2) in the kidney or AVP-induced cAMP production in inner medullary collecting duct suspensions was unaffected. Overall, PPARγ participates in physiological control of fluid homeostasis through an unknown mechanism involving cAMP/AQP2-independent enhancement of AVP response. PMID:26330489

  15. Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy

    PubMed Central

    Risson, Valérie; Mazelin, Laetitia; Roceri, Mila; Sanchez, Hervé; Moncollin, Vincent; Corneloup, Claudine; Richard-Bulteau, Hélène; Vignaud, Alban; Baas, Dominique; Defour, Aurélia; Freyssenet, Damien; Tanti, Jean-François; Le-Marchand-Brustel, Yannick; Ferrier, Bernard; Conjard-Duplany, Agnès; Romanino, Klaas; Bauché, Stéphanie; Hantaï, Daniel; Mueller, Matthias; Kozma, Sara C.; Thomas, George; Rüegg, Markus A.; Ferry, Arnaud; Pende, Mario; Bigard, Xavier; Koulmann, Nathalie

    2009-01-01

    Mammalian target of rapamycin (mTOR) is a key regulator of cell growth that associates with raptor and rictor to form the mTOR complex 1 (mTORC1) and mTORC2, respectively. Raptor is required for oxidative muscle integrity, whereas rictor is dispensable. In this study, we show that muscle-specific inactivation of mTOR leads to severe myopathy, resulting in premature death. mTOR-deficient muscles display metabolic changes similar to those observed in muscles lacking raptor, including impaired oxidative metabolism, altered mitochondrial regulation, and glycogen accumulation associated with protein kinase B/Akt hyperactivation. In addition, mTOR-deficient muscles exhibit increased basal glucose uptake, whereas whole body glucose homeostasis is essentially maintained. Importantly, loss of mTOR exacerbates the myopathic features in both slow oxidative and fast glycolytic muscles. Moreover, mTOR but not raptor and rictor deficiency leads to reduced muscle dystrophin content. We provide evidence that mTOR controls dystrophin transcription in a cell-autonomous, rapamycin-resistant, and kinase-independent manner. Collectively, our results demonstrate that mTOR acts mainly via mTORC1, whereas regulation of dystrophin is raptor and rictor independent. PMID:20008564

  16. [3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency as a cause of severe neurological damage].

    PubMed

    Dodelson de Kremer, R; Kelley, R I; Depetris de Boldini, C; Paschini de Capra, A; Corbella, L; Givogri, I; Giner de Ayala, A; Albarenque, M

    1992-01-01

    This paper describes the first Argentine case of 3-hydroxy-3-methylglutaric aciduria, a genetic defect of ketogenesis and leucine catabolism step. At the age of 4 months, the patient presented a life-threatening episode of hypoglucemia, metabolic acidosis and hyperammonemia resembling Reye syndrome. The lack of urinary ketone bodies, normal levels of plasma aminoacids and normal urinary excretion of p-hydroxyphenolic acids, led us to look for a ketogenic defect. An abnormal profile of urinary organic acids detected by thin layer chromatography and later characterized and quantified by gas chromatography-mass spectrometry (Figs. 1, 2; Table 1), showed a marked increase in the acidic metabolites typical of the 3-hydroxy-3-methylglutaric aciduria: 3-hydroxy-3-methylglutaric, 3-methylglutaconic, 3-methylglutaric and 3-hydroxyisovaleric acids. The activity of 3-hydroxy-3-methylglutaryl coenzyme A lyase was absent in white cell pellets and between 2-5% of the control values in skin fibroblasts (Table 2). Treatment of the disorder, mainly restricted leucine or low-protein diet and addition of L-carnitine had no significant effect on the severe neurological injuries present since the first illness. MRI of the brain, at the age of 1 year and 8 months, showed images in T1 suggestive of marked cerebral atrophy and in T2 hyperintensive images predominating in the right frontal and posterior parietal areas and of the punctiform lesions in the basal ganglia, particularly in the heads of both caudate nuclei.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:1302289

  17. Gene disruption of dematin causes precipitous loss of erythrocyte membrane stability and severe hemolytic anemia.

    PubMed

    Lu, Yunzhe; Hanada, Toshihiko; Fujiwara, Yuko; Nwankwo, Jennifer O; Wieschhaus, Adam J; Hartwig, John; Huang, Sha; Han, Jongyoon; Chishti, Athar H

    2016-07-01

    Dematin is a relatively low abundance actin binding and bundling protein associated with the spectrin-actin junctions of mature erythrocytes. Primary structure of dematin includes a loosely folded core domain and a compact headpiece domain that was originally identified in villin. Dematin's actin binding properties are regulated by phosphorylation of its headpiece domain by cyclic adenosine monophosphate-dependent protein kinase. Here, we used a novel gene disruption strategy to generate the whole body dematin gene knockout mouse model (FLKO). FLKO mice, while born at a normal Mendelian ratio, developed severe anemia and exhibited profound aberrations of erythrocyte morphology and membrane stability. Having no apparent effect on primitive erythropoiesis, FLKO mice show significant enhancement of erythroblast enucleation during definitive erythropoiesis. Using membrane protein analysis, domain mapping, electron microscopy, and dynamic deformability measurements, we investigated the mechanism of membrane instability in FLKO erythrocytes. Although many membrane and cytoskeletal proteins remained at their normal levels, the major peripheral membrane proteins spectrin, adducin, and actin were greatly reduced in FLKO erythrocytes. Our results demonstrate that dematin plays a critical role in maintaining the fundamental properties of the membrane cytoskeleton complex. PMID:27073223

  18. Bacteremic Urinary Tract Infection Caused by Multidrug-Resistant Enterobacteriaceae Are Associated With Severe Sepsis at Admission

    PubMed Central

    Lee, Yi-Chien; Hsiao, Chih-Yen; Hung, Miao-Chiu; Hung, Sheng-Che; Wang, Hung-Ping; Huang, Yun-Jhong; Wang, Jann-Tay

    2016-01-01

    Abstract The purpose of this study is to compare the clinical features and treatment outcomes among patients with bacteremic urinary tract infection (UTI) caused by multidrug-resistant (MDR) and non-MDR Enterobacteriaceae and to identify whether MDR pathogens were independently associated with severe sepsis or septic shock at presentation. The clinical data of adult patients visiting and being treated at Chia-Yi Christian Hospital due to bacteremic UTI caused by Enterobacteriaceae from January 2006 to August 2015 were retrospectively analyzed. A total of 585 patients were enrolled. Among them, 220 (37.6%) were caused by the MDR Enterobacteriaceae. A total of 206 patients (35.2%) developed severe sepsis or septic shock at presentation. Patients in the MDR group tend to be male and have a past history of gout, recurrent UTI, prior hospitalization, hydronephrosis, renal stone, ureteral stone, indwelling urinary catheter, newly development of renal dysfunction, severe sepsis or septic shock, intensive care unit (ICU) admission, receipt of ineffective empirical therapy, longer hospital stay, and higher in-hospital mortality (2.7% vs 1.9%, P = 0.569). Using multivariate logistic regression analysis, it is revealed that independent predictors associated with severe sepsis or septic shock at presentation were liver cirrhosis (OR 2.868; 95% CI 1.439–5.716; P = 0.003), indwelling urinary catheter (OR 1.936; 95% CI 1.238–3.027; P = 0.004), and MDR Enterobacteriaceae (OR 1.447; 95% CI 1.002–2.090; P = 0.049). Multidrug resistance was associated with the development of severe sepsis or septic shock upon presentation among patients with bacteremic UTI caused by Enterobacteriaceae. Therefore, empirical antibiotics therapy for patients with UTI presented with severe sepsis and/or septic shock should be more broad-spectrum to effectively cover MDR Enterobacteriaceae. PMID:27196480

  19. Mycoplasma ovipneumoniae - A Primary Cause of Severe Pneumonia Epizootics in the Norwegian Muskox (Ovibos moschatus) Population

    PubMed Central

    Handeland, Kjell; Tengs, Torstein; Kokotovic, Branko; Vikøren, Turid; Ayling, Roger D.; Bergsjø, Bjarne; Sigurðardóttir, Ólöf G.; Bretten, Tord

    2014-01-01

    The Norwegian muskox (Ovibos moschatus) population lives on the high mountain plateau of Dovre and originates from animals introduced from Greenland. In the late summers of 2006 and 2012, severe outbreaks of pneumonia with mortality rates of 25-30% occurred. During the 2012 epidemic high quality samples from culled sick animals were obtained for microbiological and pathological examinations. High throughput sequencing (pyrosequencing) of pneumonic lung tissue revealed high concentrations of Mycoplasma ovipneumoniae in all six animals examined by this method and Pasteurella multocida subsp. multocida in four animals, whereas no virus sequences could be identified. Mycoplasma ovipneumoniae and P. multocida multocida were also isolated by culture. Using real time PCR on lung swabs, M. ovipneumoniae was detected in all of the 19 pneumonic lungs examined. Gross pathological examination revealed heavy consolidations primarily in the cranial parts of the lungs and it also identified one case of otitis media. Histologically, lung lesions were characterized as acute to subacute mixed exudative and moderately proliferative bronchoalveolar pneumonia. Immunohistochemical (IHC) examination revealed high load of M. ovipneumoniae antigens within lung lesions, with particularly intensive staining in the neutrophils. Similar IHC finding were observed in archived lung tissue blocks from animals examined during the 2006 epidemic. An M. ovipneumoniae specific ELISA was applied on bio-banked muskox sera from stray muskoxen killed in the period 2004–2013 and sick muskoxen culled, as well as sera from wild reindeer (Rangifer tarandus tarandus) on Dovre and muskoxen from Greenland. Serology and mycoplasma culturing was also carried out on sheep that had been on pasture in the muskox area during the outbreak in 2012. Our findings indicated separate introductions of M. ovipneumoniae infection in 2006 and 2012 from infected co-grazing sheep. Salt licks shared by the two species were a

  20. Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

    PubMed Central

    Vuillaumier-Barrot, Sandrine; Bouchet-Séraphin, Céline; Chelbi, Malika; Devisme, Louise; Quentin, Samuel; Gazal, Steven; Laquerrière, Annie; Fallet-Bianco, Catherine; Loget, Philippe; Odent, Sylvie; Carles, Dominique; Bazin, Anne; Aziza, Jacqueline; Clemenson, Alix; Guimiot, Fabien; Bonnière, Maryse; Monnot, Sophie; Bole-Feysot, Christine; Bernard, Jean-Pierre; Loeuillet, Laurence; Gonzales, Marie; Socha, Koryna; Grandchamp, Bernard; Attié-Bitach, Tania; Encha-Razavi, Férechté; Seta, Nathalie

    2012-01-01

    Cobblestone lissencephaly is a peculiar brain malformation with characteristic radiological anomalies. It is defined as cortical dysplasia that results when neuroglial overmigration into the arachnoid space forms an extracortical layer that produces agyria and/or a “cobblestone” brain surface and ventricular enlargement. Cobblestone lissencephaly is pathognomonic of a continuum of autosomal-recessive diseases characterized by cerebral, ocular, and muscular deficits. These include Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama muscular dystrophy. Mutations in POMT1, POMT2, POMGNT1, LARGE, FKTN, and FKRP identified these diseases as alpha-dystroglycanopathies. Our exhaustive screening of these six genes, in a cohort of 90 fetal cases, led to the identification of a mutation in only 53% of the families, suggesting that other genes might also be involved. We therefore decided to perform a genome-wide study in two multiplex families. This allowed us to identify two additional genes: TMEM5 and ISPD. Because TMEM has a glycosyltransferase domain and ISPD has an isoprenoid synthase domain characteristic of nucleotide diP-sugar transferases, these two proteins are thought to be involved in the glycosylation of dystroglycan. Further screening of 40 families with cobblestone lissencephaly identified nonsense and frameshift mutations in another four unrelated cases for each gene, increasing the mutational rate to 64% in our cohort. All these cases displayed a severe phenotype of cobblestone lissencephaly A. TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies. PMID:23217329

  1. Phosphorylation of Bni4 by MAP kinases contributes to septum assembly during yeast cytokinesis.

    PubMed

    Pérez, Jacqueline; Arcones, Irene; Gómez, Alberto; Casquero, Verónica; Roncero, César

    2016-09-01

    Previous work has shown that the synthetic lethality of the slt2Δrim101Δ mutant results from a combination of factors, including improper functioning of the septum assembly machinery. Here, we identify new multicopy suppressors of this lethality including Kss1, Pcl1 and Sph1, none of which seems to be linked to the upregulation of chitin synthesis. Characterization of the suppression mediated by Kss1 showed that it is independent of the transcriptional response of the CWI signaling response, but efficiently restores the Bni4 localization defects produced by the absence of Slt2. Accordingly, Bni4 interacts physically with both kinases, and its levels of phosphorylation are reduced in the slt2Δ mutant but increased after Kss1 overexpression. Using an assay based on hypersensitive cells of the cdc10-11 mutant, we have pinpointed several MAP kinase phosphorylatable residues required for Bni4 function. Our results, together with a genetic correlation analysis, strongly support a functional model linking Slt2 MAP kinase and Pcl1, a Pho85 cyclin-dependent kinase, in septum assembly through Bni4. This model, based on the coordinated phosphorylation of Bni4 by both kinases, would be able to integrate cellular signals rapidly to maintain cell integrity during cytokinesis. PMID:27400980

  2. CyDiv, a Conserved and Novel Filamentous Cyanobacterial Cell Division Protein Involved in Septum Localization

    PubMed Central

    Mandakovic, Dinka; Trigo, Carla; Andrade, Derly; Riquelme, Brenda; Gómez-Lillo, Gabriela; Soto-Liebe, Katia; Díez, Beatriz; Vásquez, Mónica

    2016-01-01

    Cell division in bacteria has been studied mostly in Escherichia coli and Bacillus subtilis, model organisms for Gram-negative and Gram-positive bacteria, respectively. However, cell division in filamentous cyanobacteria is poorly understood. Here, we identified a novel protein, named CyDiv (Cyanobacterial Division), encoded by the all2320 gene in Anabaena sp. PCC 7120. We show that CyDiv plays a key role during cell division. CyDiv has been previously described only as an exclusive and conserved hypothetical protein in filamentous cyanobacteria. Using polyclonal antibodies against CyDiv, we showed that it localizes at different positions depending on cell division timing: poles, septum, in both daughter cells, but also in only one of the daughter cells. The partial deletion of CyDiv gene generates partial defects in cell division, including severe membrane instability and anomalous septum localization during late division. The inability to complete knock out CyDiv strains suggests that it is an essential gene. In silico structural protein analyses and our experimental results suggest that CyDiv is an FtsB/DivIC-like protein, and could therefore, be part of an essential late divisome complex in Anabaena sp. PCC 7120. PMID:26903973

  3. Nasal septum changes in adolescent patients treated with rapid maxillary expansion

    PubMed Central

    Aziz, Tehnia; Wheatley, Francis Carter; Ansari, Kal; Lagravere, Manuel; Major, Michael; Flores-Mir, Carlos

    2016-01-01

    Objective: To analyze cone-beam computed tomography (CBCT) scans to measure changes in nasal septal deviation (NSD) after rapid maxillary expansion (RME) treatment in adolescent patients. Methods: This retrospective study involved 33 patients presenting with moderate to severe nasal septum deviation as an incidental finding. Out of these 33 patients, 26 were treated for transverse maxillary constriction with RME and seven, who did not undergo RME treatment, were included in the study as control group. CBCT scans were taken before appliance insertion and after appliance removal. These images were analyzed to measure changes in nasal septum deviation (NSD). Analysis of variance for repeated measures (ANOVA) was used. Results: No significant changes were identified in NSD regardless of the application or not of RME treatment and irrespective of the baseline deviation degree. Conclusion: This study did not provide strong evidence to suggest that RME treatment has any effect on NSD in adolescent patients; however, the results should be interpreted with caution, due to the small sample size and large variation amongst individual patient characteristics. PMID:27007761

  4. Severe starvation-induced hepatocyte autophagy as a cause of acute liver injury in anorexia nervosa: a case report.

    PubMed

    Restellini, S; Spahr, L; Rubbia Brandt, L

    2013-01-01

    Introduction. Mild elevation of transaminase may be observed in anorexia nervosa, but acute liver injury is uncommon. A complex programmed cell death in response to starvation, called autophagy, has been described in experimental and human studies. Case Presentation. A 24-year-old woman suffering from anorexia nervosa was hospitalized for severe malnutrition. At admission, there were biological signs of acute liver injury but no electrolytic imbalance. After having ruled out the most common causes of liver injury, the patient was carefully refed. As liver tests remained abnormal, liver biopsy was performed. At histology and electron microscopy, numerous signs suggestive of starvation-induced hepatocyte autophagy were found. Discussion. Severe starvation can be associated with acute liver injury that is slowly reversible with careful enteral nutrition. In this clinical situation, profound hepatic glycogen depletion in association with autophagy appears as the leading cause of liver injury. PMID:25379300

  5. Is severe progressive liver disease caused by alpha-1-antitrypsin deficiency more common in children or adults?

    PubMed

    Chu, Andrew S; Chopra, Kapil B; Perlmutter, David H

    2016-07-01

    The classical form of alpha-1-antitrypsin deficiency (A1ATD) is known to cause liver disease in children and adults, but there is relatively little information about the risk of severe, progressive liver disease and the need for liver transplantation. To better understand how newly evolving pharmacological, genetic, and cellular therapies may be targeted according to risk for progressive liver disease, we sought to determine the age distribution of A1ATD as a cause of severe liver disease, as defined by the need for liver transplantation. Using 3 US liver transplantation databases for the period 1991-2012, we found 77.2% of 1677 liver transplants with a reported diagnosis of A1ATD were adults. The peak age range was 50-64 years. Using 2 of the databases which included specific A1AT phenotypes, we found that many of these adults who undergo liver transplantation with A1ATD as the diagnosis are heterozygotes and have other potential causes of liver disease, most notably obesity and ethanol abuse. However, even when these cases are excluded and only ZZ and SZ phenotypes are considered, severe liver disease requiring transplantation is more than 2.5 times as likely in adults. The analysis also showed a markedly increased risk for males. In the pediatric group, almost all of the transplants are done in children less than 5 years of age. In conclusion, A1ATD causes progressive liver disease most commonly in adults with males in the highest risk category. In the pediatric group, children less than 5 years of age are highest in risk. These results suggest that A1ATD most commonly causes liver disease by mechanisms similar to age-dependent degenerative diseases and more rarely in children by powerful modifiers. Liver Transplantation 22 886-894 2016 AASLD. PMID:26946192

  6. Surgical treatment of severe chronic venous insufficiency caused by pulsatile varicose veins in a patient with tricuspid regurgitation.

    PubMed

    Casian, D; Gutsu, E; Culiuc, V

    2009-04-01

    A case of severe chronic venous insufficiency caused by pulsatile varicose veins in a 46-year-old man with tricuspid regurgitation is presented. Active venous leg ulcer complicated with recurrent venous bleeding and inefficacy of conservative management serve as indications for surgical treatment. This case demonstrates the possibility of radical surgical correction of pathological venous reflux by means of saphenofemoral ligation, foam sclerotherapy and subfascial endoscopic perforator surgery. PMID:19299276

  7. Late-onset dysphagia caused by severe spastic peristalsis of a free jejunal graft in a case of hypopharyngeal cancer.

    PubMed

    Imai, Takayuki; Goto, Takahiro; Matsumoto, Ko; Kurosawa, Koreyuki; Asada, Yukinori; Saijo, Shigeru; Matsuura, Kazuto

    2016-12-01

    Free jejunal transfer is the main technique used for reconstructing a circumferential defect caused by total pharyngo-laryngo-cervical-esophagectomy in certain cancer cases. We report a rare case of severe late-onset dysphagia caused by autonomous spastic peristalsis, which led to complete obstruction of the free jejunal route. A 70-year-old man underwent treatment for hypopharyngeal cancer involving total pharyngolaryngectomy with free jejunal transfer. After uneventful peri- and postoperative recovery, he developed sudden-onset severe dysphagia 22 months later. Gastrografin fluoroscopy revealed abnormal peristalsis and contraction of the transferred jejunum, leading to complete obstruction. Nutritional treatment, application of depressants of peristalsis, and xylocaine injection into the outer space of the jejunal mucosa all failed to alleviate the dysphagia. Surgical treatment involving a longitudinal incision of the jejunal graft, and interposing a cutaneous flap, as a fixed wall, between the incised jejunal margins to prevent obstruction was performed. After further reconstructive surgery involving using a pectoralis major musculocutaneous flap and a split-thickness skin graft to close a refractory jejunum-skin fistula, the dysphagia was permanently alleviated. To our knowledge, this is the first report of severe dysphagia caused by peristalsis of a free jejunal graft. PMID:27068782

  8. Control and readout of the extraction septum of AmPS

    NASA Astrophysics Data System (ADS)

    Vanes, J. T.; Luigjes, G.; Vantrigt, J. H.

    The electronics used for the septum translation-rotation control system and for the control of the 100 kV power supply of the electrostatic septum of the storage ring AmPS (Amsterdam Pulse Stretcher) are described. The translation and rotation of the septum are performed by stepping motors controlled by LVDT's (Linear Variable Differential Transformers), which are controlled by a bitbus module which also controls the high voltage power supply.

  9. Incidence, causes and severity of injuries in Aquitaine, France: a community-based study of hospital admissions and deaths.

    PubMed Central

    Tiret, L; Garros, B; Maurette, P; Nicaud, V; Thicoipe, M; Hatton, F; Erny, P

    1989-01-01

    This paper reports the results of a study of injuries conducted during a one-year period within a defined geographic population of 2.7 million persons (Aquitaine, France). Cases were defined as unintentional or intentional injuries, either resulting in immediate death before reaching hospital or requiring hospital admission. During the one-year period, 1,181 deaths were registered and 8,190 hospital admissions occurred during the sample periods. The three leading causes of injury were falls (40 per cent), traffic accidents (27 per cent), and poisonings (15 per cent). The overall incidence of injuries was 136 per 10,000 person years. Incidence by sex and age was assessed for the main external causes. The ratios of nonfatal to fatal cases were calculated by sex and age and by external cause. The origin of the injury was suicide in 14 per cent of cases and assault or homicide in 3 per cent. The severity of injuries, assessed using an automatic computation of the Injury Severity Score (ISS), ranged from 1 to 66 with a mean of 6.9. Substantial variations of ISS were observed according to external cause. At the 8th day following admission, 31 per cent of hospital-treated patients were still hospitalized and 0.8 per cent had died in hospital. The outcome correlated well with the ISS. PMID:2916718

  10. Identification of the cause of severe skin infection by Fournier transform infrared spectroscopy: a case of Fournier's gangrene caused by fish bone.

    PubMed

    Shimizu, Takae; Harada, Kazutoshi; Akazawa, Satoshi; Yamaguchi, Miyuki; Inozume, Takashi; Kawamura, Tatsuyoshi; Shibagaki, Naotaka; Momosawa, Akira; Shimada, Shinji

    2014-06-01

    Fournier's gangrene (FG) is an infrequent but highly lethal infection. Here we report a 74-year-old man who presented with genital swelling and severe malaise. Based on the physical and imaging examination results, the diagnosis of FG was confirmed. Intraoperative findings showed dirty necrosis of soft tissue, and a splinter-shaped foreign body was found in the perirectal region. The foreign body was thought to be the cause of the condition, and it was analyzed using Fourier transform infrared spectroscopy. We found that the foreign body was a mixture of calcium phosphate and protein, suggesting that the splinter was a bone. Moreover, during the medical interview, the patient mentioned about intake of fish around the time of onset of symptoms. Therefore, to confirm the results of the analysis, DNA was extracted from the foreign body, and genomic PCR with subsequent sequence analysis was performed. The DNA sequence was identical to that of Oncorhynchus kisutch, a salmon that is a very popular food in Japan. On the basis of these findings, we concluded that FG in this case was caused by the penetration into the rectum of an accidentally ingested fish bone. Although some cases of intra-abdominal abscess due to accidental ingestion of fish bone have been reported, FG caused by fish bone is extremely rare. PMID:24909217

  11. Echocardiographic Discovery of Doubled Interatrial Septum: An Incidental Finding.

    PubMed

    Kumar, Priya A; Martinelli, Susan M; Kyle, Robert W; Arora, Harendra

    2016-09-01

    A double-walled interatrial septum is a rare congenital cardiac anomaly characterized by a distinct echolucent cavity between the atria formed by 2 separate interatrial septae. It may be a variant of other well-recognized cardiac anomalies such as persistent venous valve of the sinus venosus or cor triatriatum. Although uncommon, it may be associated with thromboembolic disease due to stagnant flow in the septal cavity. Awareness of this rare entity and its clinical significance along with a thorough echocardiographic examination to rule out similarly presenting or coexisting conditions are the key to an accurate diagnosis and appropriate management. PMID:25934559

  12. Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.

    PubMed

    van de Pol, Laura A; Wolf, Nicole I; van Weissenbruch, Mirjam M; Stam, Cornelie J; Weiss, Janneke M; Waisfisz, Quinten; Kevelam, Sietske H; Bugiani, Mariana; van de Kamp, Jiddeke M; van der Knaap, Marjo S

    2015-12-01

    A variety of pathologies can underlie early-onset severe encephalopathy with epilepsy. To aid the diagnostic process in such patients we present an overview of causes, including the rapidly expanding list of genes involved. When no explanation is found, whole-exome sequencing (WES) can be used in an attempt to identify gene defects in patients suspected to suffer from a genetic form. We describe three siblings, born to consanguineous parents, with a lethal severe epileptic encephalopathy with early-infantile onset, including their magnetic resonance imaging, electroencephalography and, in one case, neuropathological findings. Using WES a homozygous frameshift mutation in the BRAT1 gene, c.638dup p.(Val214Glyfs*189), was identified. We present our cases in the context of all published cases with mutations in the BRAT1 gene and conclude that BRAT1 should be added to the growing list of genes related to early-onset severe encephalopathy with epilepsy. PMID:26535877

  13. Ischemic Colitis Is a Common Cause of Severe Hematochezia and Patient Outcomes Are Worse Than with Other Colonic Diagnoses

    PubMed Central

    Chavalitdhamrong, Disaya; Jensen, Dennis M.; Kovacs, Thomas O.G.; Jutabha, Rome; Dulai, Gareth; Ohning, Gordon; Machicado, Gustavo A.

    2013-01-01

    Background Outcomes of severe hematochezia from ischemic colitis vs. other colonic diagnoses have not been well studied. Objective Our purposes were: 1) to compare demographics and outcomes of patients hospitalized with severe hematochezia from ischemic colitis vs. other colonic diagnoses, 2) to compare inpatient vs. outpatient start of bleeding from ischemic colitis, 3) to describe potential risk factors. Design Prospective cohort study. Setting Tertiary referral academic centers. Patients Patients referred for gastroenterology consultation about severe hematochezia. Interventions Colonoscopic therapy was provided as indicated. Main outcome measurements Rebleeding, surgery and length of hospital stay Results Of 550 patients in the last 12 years with severe colonic hematochezia, 65 were caused by ischemia. Major 30 day outcomes of ischemic colitis patients were significantly worse than patients with other colonic diagnoses. Patients with inpatient (vs. outpatient) ischemic colitis had significantly more and severe comorbidities at baseline and significantly higher rates of rebleeding, surgery & more hospital & intensive care unit days. Limitations Two-center study Conclusions Ischemic colitis was found more often in females and patients with anticoagulant usage, severe lung disease, higher creatinine, higher glucose, & more fresh frozen plasma transfused. Five patients with focal lesions had colonoscopic hemostasis. Major 30 day outcomes of ischemic colitis patients were significantly worse than patients with other colonic diagnoses. Comparing outpatient vs. inpatient start of ischemic colitis, inpatients had significantly worse outcomes. PMID:21839438

  14. Vitamin B12 and vitamin d deficiencies: an unusual cause of Fever, severe hemolytic anemia and thrombocytopenia.

    PubMed

    Mishra, Vikas A; Harbada, Rishit; Sharma, Akhilesh

    2015-01-01

    The array of diagnostic workup for pyrexia of unknown origin (PUO) generally revolves in searching for infections, inflammatory/autoimmune, and endocrine etiologies. A differential diagnosis of fever, hemolytic anemia, and thrombocytopenia can have etiologies varying from infections like malaria, dengue, cytomegalovirus, Ebstein barr virus, Parvovirus, infective endocarditis, to autoimmune disorder (systemic lupus erythromatosis), vasculitis, hemolytic uremic syndrome, thrombotic thrombocytopenic purpura (TTP), autoimmune hemolytic anemia/Evan's syndrome, paroxysmal nocturnal hemoglobinuri (PNH), or drugs. Nutritional deficiencies (especially vitamin B12 deficiency) as a cause of fever, hemolytic anemia, and thrombocytopenia are very rare and therefore rarely thought of. Severe vitamin B12 deficiency may cause fever and if accompanied by concurrent hyper-homocysteinemia and hypophosphatemia can sometimes lead to severe hemolysis mimicking the above-mentioned conditions. We present a case that highlights vitamin B12 and vitamin D deficiency as an easily treatable cause of PUO, hemolytic anemia, and thrombocytopenia, which should be actively looked for and treated before proceeding with more complicated and expensive investigation or starting empiric treatments. PMID:25811010

  15. Vitamin B12 and Vitamin D Deficiencies: An Unusual Cause of Fever, Severe Hemolytic Anemia and Thrombocytopenia

    PubMed Central

    Mishra, Vikas A.; Harbada, Rishit; Sharma, Akhilesh

    2015-01-01

    The array of diagnostic workup for pyrexia of unknown origin (PUO) generally revolves in searching for infections, inflammatory/autoimmune, and endocrine etiologies. A differential diagnosis of fever, hemolytic anemia, and thrombocytopenia can have etiologies varying from infections like malaria, dengue, cytomegalovirus, Ebstein barr virus, Parvovirus, infective endocarditis, to autoimmune disorder (systemic lupus erythromatosis), vasculitis, hemolytic uremic syndrome, thrombotic thrombocytopenic purpura (TTP), autoimmune hemolytic anemia/Evan's syndrome, paroxysmal nocturnal hemoglobinuri (PNH), or drugs. Nutritional deficiencies (especially vitamin B12 deficiency) as a cause of fever, hemolytic anemia, and thrombocytopenia are very rare and therefore rarely thought of. Severe vitamin B12 deficiency may cause fever and if accompanied by concurrent hyper-homocysteinemia and hypophosphatemia can sometimes lead to severe hemolysis mimicking the above-mentioned conditions. We present a case that highlights vitamin B12 and vitamin D deficiency as an easily treatable cause of PUO, hemolytic anemia, and thrombocytopenia, which should be actively looked for and treated before proceeding with more complicated and expensive investigation or starting empiric treatments. PMID:25811010

  16. Characterizing Septum Inhibition in Mycobacterium tuberculosis for Novel Drug Discovery

    SciTech Connect

    Respicio,L.; Nair, P.; Huang, Q.; Anil, B.; Tracz, S.; Truglio, J.; Kisker, C.; Raleigh, D.; Ojima, I.; et al

    2008-01-01

    A temperature sensitive mutation in the cell division protein FtsZ was used in combination with transcriptional analysis to identify biomarkers for inhibition of septum formation. Crystallography and modeling revealed that the glycine for aspartate substitution at amino acid 210 was located in helix 8 of the protein, adjacent to the T7 synergy loop. To verify the molecular behavior of FtsZD210G, the in vitro activity and structural stability were evaluated as a function of temperature. These analyses confirmed that the FtsZD210G mutant had reduced GTPase and polymerization activity compared to wild-type FtsZ, and CD spectroscopy demonstrated that both FtsZD210G and wild-type FtsZ had similar structure and stability. Significantly, the FtsZD210G merodiploid strain of M. tuberculosis had compromised growth at 37 C, substantiating the suitability of FtsZD210G as a molecular tool for global analysis in response to improper FtsZ polymerization and septum inhibition. Advanced model-based bioinformatics and transcriptional mapping were used to identify high-content multiple features that provide biomarkers for the development of a rational drug screening platform for discovering novel chemotherapeutics that target cell division.

  17. A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia.

    PubMed

    Soufi, Muhidien; Rust, Stephan; Walter, Michael; Schaefer, Juergen R

    2013-05-25

    Familial hypercholesterolemia (FH) results from impaired catabolism of plasma low density lipoproteins (LDL), thus leading to high cholesterol, atherosclerosis, and a high risk of premature myocardial infarction. FH is commonly caused by defects of the LDL receptor or its main ligand apoB, together mediating cellular uptake and clearance of plasma LDL. In some cases FH is inherited by mutations in the genes of PCSK9 and LDLRAP1 (ARH) in a dominant or recessive trait. The encoded proteins are required for LDL receptor stability and internalization within the LDLR pathway. To detect the underlying genetic defect in a family of Turkish descent showing unregular inheritance of severe FH, we screened the four candidate genes by denaturing gradient gel electrophoresis (DGGE) mutation analysis. We identified different combinatory mixtures of LDLR- and LDLRAP1-gene defects as the cause for severe familial hypercholesterolemia in this family. We also show for the first time that a heterozygous LDLR mutation combined with a homozygous LDLRAP1 mutation produces a more severe hypercholesterolemia phenotype in the same family than a homozygous LDLR mutation alone. PMID:23510778

  18. Pregnancy-related severe pelvic girdle pain caused by unilateral noninfectious sacroiliitis. A case report and literature review.

    PubMed

    Mahovic, D; Laktasic-Zerjavic, N; Tudor, K I; Mercep, I; Prutki, M; Anic, B

    2014-09-01

    Pelvic girdle pain during and after pregnancy is the clinical syndrome of persistent musculoskeletal pain localized in the posterior and/or anterior aspect of the pelvis originating from sacroiliac joints and/or pubic symphysis due to dynamic instability. We report the case of severe and disabling postpartum pelvic girdle pain caused by unilateral noninfectious sacroiliitis which resolved after 2 months by nonsteroidal anti-inflammatory drug and physical therapy. A short literature review is given on epidemiology, etiology, clinical presentation, therapy, and prognosis of pregnancy-related pelvic girdle pain. PMID:24549922

  19. Assessment of Functional Disturbances in the Central Nervous System Caused by Severe Carbon Monoxide Poisoning in Rats.

    PubMed

    Tolkach, P G; Basharin, V A; Grebenyuk, A N

    2016-02-01

    An experimental model was developed for assessment of disturbances in CNS functions of laboratory animals caused by severe carbon monoxide poisoning. Normalization of the state of experimental rats after acute poisoning was accompanied by the development of cognitive abnormalities. Disturbances in the long-term memory were observed on days 1 and 14 after CO poisoning, while abnormalities in the short-term memory developed on days 1, 7, and 14. Learning impairment were recorded on day 8, while the training course began on day 7. PMID:26906199

  20. Repeated Low-Dose Influenza Virus Infection Causes Severe Disease in Mice: a Model for Vaccine Evaluation

    PubMed Central

    Song, Yufeng; Wang, Xiang; Zhang, Hongbo; Tang, Xinying; Li, Min; Yao, Jufang; Jin, Xia; Ertl, Hildegund C. J.

    2015-01-01

    ABSTRACT Influenza infection causes severe disease and death in humans. In traditional vaccine research and development, a single high-dose virus challenge of animals is used to evaluate vaccine efficacy. This type of challenge model may have limitations. In the present study, we developed a novel challenge model by infecting mice repeatedly in short intervals with low doses of influenza A virus. Our results show that compared to a single high-dose infection, mice that received repeated low-dose challenges showed earlier morbidity and mortality and more severe disease. They developed higher vial loads, more severe lung pathology, and greater inflammatory responses and generated only limited influenza A virus-specific B and T cell responses. A commercial trivalent influenza vaccine protected mice against a single high and lethal dose of influenza A virus but was ineffective against repeated low-dose virus challenges. Overall, our data show that the repeated low-dose influenza A virus infection mouse model is more stringent and may thus be more suitable to select for highly efficacious influenza vaccines. IMPORTANCE Influenza epidemics and pandemics pose serious threats to public health. Animal models are crucial for evaluating the efficacy of influenza vaccines. Traditional models based on a single high-dose virus challenge may have limitations. Here, we describe a new mouse model based on repeated low-dose influenza A virus challenges given within a short period. Repeated low-dose challenges caused more severe disease in mice, associated with higher viral loads and increased lung inflammation and reduced influenza A virus-specific B and T cell responses. A commercial influenza vaccine that was shown to protect mice from high-dose challenge was ineffective against repeated low-dose challenges. Overall, our results show that the low-dose repeated-challenge model is more stringent and may therefore be better suited for preclinical vaccine efficacy studies. PMID

  1. Dissociated Roles for the Lateral and Medial Septum in Elemental and Contextual Fear Conditioning

    ERIC Educational Resources Information Center

    Calandreau, Ludovic; Jaffard, Robert; Desmedt, Aline

    2007-01-01

    Extensive evidence indicates that the septum plays a predominant role in fear learning, yet the direction of this control is still a matter of debate. Increasing data suggest that the medial (MS) and lateral septum (LS) would be differentially required in fear conditioning depending on whether a discrete conditional stimulus (CS) predicts, or not,…

  2. Quinine allergy causing acute severe systemic illness: report of 4 patients manifesting multiple hematologic, renal, and hepatic abnormalities

    PubMed Central

    2003-01-01

    Quinine is widely used for the common symptom of leg cramps. Quinine tablets require a prescription, but quinine and the product from which it is derived, cinchona, are also available without prescription. They are components of over-the-counter remedies for many common symptoms, of nutrition products, and of beverages such as tonic water and bitter lemon. Although quinine has been used for centuries, initially as an extract from the bark of the cinchona tree, allergic reactions to quinine can be severe and can affect multiple organs. These allergic reactions can cause thrombocytopenia, neutropenia, anemia, disseminated intravascular coagulation, acute renal failure, liver toxicity, and neurological abnormalities. Because quinine use is often intermittent, defining quinine as a cause of an acute disorder may be difficult. Moreover, since quinine use is often self-regulated, patients may not mention it in response to direct questions about medication use, adding to diagnostic difficulty. The diversity and severity of quinine-associated disorders and the difficulties of diagnosis are illustrated by the presentation of 4 case histories. Awareness of the variety of potential quinine-associated reactions is important for accurate diagnosis and critical for prevention of recurrent illness. PMID:16278718

  3. Severe respiratory illness caused by a novel coronavirus, in a patient transferred to the United Kingdom from the Middle East, September 2012.

    PubMed

    Bermingham, A; Chand, M A; Brown, C S; Aarons, E; Tong, C; Langrish, C; Hoschler, K; Brown, K; Galiano, M; Myers, R; Pebody, R G; Green, H K; Boddington, N L; Gopal, R; Price, N; Newsholme, W; Drosten, C; Fouchier, R A; Zambon, M

    2012-01-01

    Coronaviruses have the potential to cause severe transmissible human disease, as demonstrated by the severe acute respiratory syndrome (SARS) outbreak of 2003. We describe here the clinical and virological features of a novel coronavirus infection causing severe respiratory illness in a patient transferred to London, United Kingdom, from the Gulf region of the Middle East. PMID:23078800

  4. Cavum Septum Pellucidum in Monozygotic Twins Discordant for Combat Exposure: Relationship to Posttraumatic Stress Disorder

    PubMed Central

    May, Flavia S.; Chen, Q. Cece; Gilbertson, Mark W.; Shenton, Martha E.; Pitman, Roger K.

    2009-01-01

    Background Abnormally large cavum septum pellucidum has been reported in posttraumatic stress disorder; however, the origin of this association is uncertain. Methods We utilized magnetic resonance imaging to measure cavum septum pellucidum in pairs of identical twins discordant for combat exposure in Vietnam. Results Presence of abnormal cavum septum pellucidum was significantly correlated between exposed and unexposed twins, indicating that it is partially determined by heredity and/or shared environment. There was a greater proportion of cavum septum pellucidum in combat-exposed twins with posttraumatic stress disorder and their noncombat-exposed co-twins. Conclusions The presence of abnormally large cavum septum pellucidum is a familial vulnerability factor for posttraumatic stress disorder. PMID:15013837

  5. LG2 Agrin Mutation Causing Severe Congenital Myasthenic Syndrome Mimics Functional Characteristics of Non-neural (z−) Agrin

    PubMed Central

    Maselli, Ricardo A.; Fernandez, Jose M.; Arredondo, Juan; Navarro, Carmen; Ngo, Maian; Beeson, David; Cagney, Órla; Williams, D. Colette; Wollmann, Robert L.; Yarov-Yarovoy, Vladimir; Ferns, Michael J

    2016-01-01

    We describe a severe form of congenital myasthenic syndrome (CMS) caused by two heteroallelic mutations: a nonsense and a missense mutation in the gene encoding agrin (AGRN). The identified mutations, Q353X and V1727F, are located at the N-terminal and at the second laminin G-like (LG2) domain of agrin respectively. A motor-point muscle biopsy demonstrated severe disruption of the architecture of the neuromuscular junction (NMJ), including: dispersion and fragmentation of endplate areas with normal expression of acetylcholinesterase; simplification of postsynaptic membranes; pronounced reduction of the axon terminal size; widening of the primary synaptic cleft; and, collection of membranous debris material in the primary synaptic cleft and in the subsynaptic cytoplasm. Expression studies in heterologous cells revealed that the Q353X mutation abolished expression of full-length agrin. Moreover, the V1727F mutation decreased agrin-induced clustering of the AChR in cultured C2 muscle cells by >100-fold, and phosphorylation of the MuSK receptor and AChR beta subunit by ~10-fold. Surprisingly, the V1727F mutant also displayed increased binding to α-dystroglycan but decreased binding to a neural (z+) agrin-specific antibody. Our findings demonstrate that agrin mutations can associate with a severe form of CMS and cause profound distortion of the architecture and function of the NMJ. The impaired ability of V1727F agrin to activate MuSK and clusters AChRs, together with its increased affinity to α-dystroglycan, mimics non-neural (z−) agrin and are important determinants of the pathogenesis of the disease. PMID:22205389

  6. A 10-bp deletion in the apolipoprotein epsilon gene causing apolipoprotein E deficiency and severe type III hyperlipoproteinemia.

    PubMed Central

    Feussner, G.; Dobmeyer, J.; Gröne, H. J.; Lohmer, S.; Wohlfeil, S.

    1996-01-01

    Type III hyperlipoproteinemia (HLP) is usually associated with homozygosity for apolipoprotein (apo) E2. We identified a 30-year-old male German of Hungarian ancestry with severe type III HLP and apo E deficiency. The disease was expressed in an extreme phenotype with multiple cutaneous xanthomas. Apo E was detectable only in trace amounts in plasma but not in the different lipoprotein fractions. Direct sequencing of PCR-amplified segments of the apo epsilon gene identified a 10-bp deletion in exon 4 (bp 4037-4046 coding for amino acids 209-212 of the mature protein). The mutation is predictive for a reading frameshift introducing a premature stop codon (TGA) at amino acid 229. By western blot analysis, we found small amounts of a truncated apo E in the patient's plasma. Family analysis revealed that the proband was homozygous--and 10 of 24 relatives were heterozygous--for the mutation. Heterozygotes had, as compared to unaffected family members, significantly higher triglycerides (TG), very low-density lipoprotein (VLDL) cholesterol and a significantly higher VLDL cholesterol-to-serum TG ratio, which is indicative of a delayed remnant catabolism. We propose that the absence of a functionally active apo E is the cause of the severe type III HLP in the patient and that the mutation, even in a single dose in heterozygotes, predisposes in variable severity to the phenotypic expression of the disease. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 PMID:8571954

  7. Community-Associated Methicillin-Resistant Staphylococcus aureus Lacking PVL, as a Cause of Severe Invasive Infection Treated with Linezolid

    PubMed Central

    Gavino, Alexandra; Miragaia, Maria; Varandas, Luis; de Lencastre, Herminia; Brito, Maria Joao

    2013-01-01

    Community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) is an emerging public health problem worldwide. Severe invasive infections have been described, mostly associated with the presence of Panton-Valentine leukocidin (PVL). In Portugal limited information exists regarding CA-MRSA infections. In this study we describe the case of a previously healthy 12-year-old female, sport athlete, who presented to the hospital with acetabulofemoral septic arthritis, myositis, fasciitis, acetabulum osteomyelitis, and pneumonia. The MRSA isolated from blood and synovial fluid was PVL negative and staphylococcal enterotoxin type P (SEP) and type L (SEL) positive, with a vancomycin MIC of 1.0 mg/L and resistant to clindamycin and ciprofloxacin. The patient was submitted to multiple surgical drainages and started on vancomycin, rifampicin, and gentamycin. Due to persistence of fever and no microbiological clearance, linezolid was started with improvement. This is one of the few reported cases of severe invasive infection caused by CA-MRSA in Portugal, which was successfully treated with linezolid. In spite of the severity of infection, the MRSA isolate did not produce PVL. PMID:23509655

  8. Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

    PubMed

    Vulto-van Silfhout, Anneke T; Rajamanickam, Shivakumar; Jensik, Philip J; Vergult, Sarah; de Rocker, Nina; Newhall, Kathryn J; Raghavan, Ramya; Reardon, Sara N; Jarrett, Kelsey; McIntyre, Tara; Bulinski, Joseph; Ownby, Stacy L; Huggenvik, Jodi I; McKnight, G Stanley; Rose, Gregory M; Cai, Xiang; Willaert, Andy; Zweier, Christiane; Endele, Sabine; de Ligt, Joep; van Bon, Bregje W M; Lugtenberg, Dorien; de Vries, Petra F; Veltman, Joris A; van Bokhoven, Hans; Brunner, Han G; Rauch, Anita; de Brouwer, Arjan P M; Carvill, Gemma L; Hoischen, Alexander; Mefford, Heather C; Eichler, Evan E; Vissers, Lisenka E L M; Menten, Björn; Collard, Michael W; de Vries, Bert B A

    2014-05-01

    Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1, which encodes a transcription factor with an important role in embryonic development. To ascertain whether these mutations in DEAF1 are causative for the ID phenotype, we performed targeted resequencing of DEAF1 in an additional cohort of over 2,300 individuals with unexplained ID and identified two additional individuals with de novo mutations in this gene. All four individuals had severe ID with severely affected speech development, and three showed severe behavioral problems. DEAF1 is highly expressed in the CNS, especially during early embryonic development. All four mutations were missense mutations affecting the SAND domain of DEAF1. Altered DEAF1 harboring any of the four amino acid changes showed impaired transcriptional regulation of the DEAF1 promoter. Moreover, behavioral studies in mice with a conditional knockout of Deaf1 in the brain showed memory deficits and increased anxiety-like behavior. Our results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1. PMID:24726472

  9. Hemangioma of the Interatrial Septum: CT and MRI Features

    SciTech Connect

    Hrabak-Paar, Maja; Huebner, Marisa; Stern-Padovan, Ranka; Lusic, Mario

    2011-02-15

    Hemangioma of the heart is a rare primary benign tumor mainly appearing as enhancing, homogenous, well-circumscribed mass. We report a case of a 61-year-old asymptomatic woman, whose echocardiography showed a cardiac mass, which was described as the atypical myxoma of the right atrium. For further imaging, contrast-enhanced computed tomography and cardiac magnetic resonance imaging were undertaken, which showed a tumor located in the interatrial septum with imaging characteristics of hemangioma. In the literature, cardiac hemangioma is usually described as an intensely enhancing mass. In our opinion, early peripheral puddling of contrast material with filling in on delayed images is a typical pattern of its enhancement. This characteristic, in addition to high signal intensity on T2-weighted images, allows differentiation of a hemangioma from other benign and malignant tumors.

  10. Design, tests and commissioning of the EMMA injection septum

    NASA Astrophysics Data System (ADS)

    Marinov, K.; Clarke, J. A.; Marks, N.; Tzenov, S.

    2013-02-01

    The paper describes the main steps taken during the design and commissioning stages of the EMMA injection and extraction septum magnets. A preliminary analysis of the problem is presented first followed by a discussion of the results obtained through finite element magnetic modeling and design optimization. The measures taken to suppress the stray field generated by the magnet are discussed in detail. Two sets of tests are performed on the magnet: magnetic field measurement resulting in a three-dimensional magnetic field map and measurement of the electron beam bending angle as a function of the magnet current. The values of the effective magnetic length resulting from the two sets of measurement are found to be in excellent agreement.

  11. Pediatric frontal mucocele secondary to a bifid frontal sinus septum.

    PubMed

    Plikaitis, Christina M; Purzycki, Adam R; Couture, Daniel; David, Lisa R

    2010-09-01

    A mucocele is a mucus-containing sac lined with epithelium that arises within a sinus when its drainage is compromised. The frontal sinus is the most common location, with frontal mucocele development occurring when the nasofrontal duct becomes obstructed because of polyps, bone tumors, prior surgery, sinusitis, trauma, or anatomic variation. We report an unusual case of a sterile pediatric frontal mucocele presenting as a slowly enlarging forehead mass due to a bifid frontal sinus septum. A 9-year-old girl presented to the craniofacial clinic for evaluation of a right frontal mass that had been slowly growing over the past year. She was otherwise healthy and had no history of previous trauma or sinus infections. Computed tomography (CT) scan results revealed a localized frontal fluid collection with protrusion and thinning of the anterior frontal bone between 2 midline bony septii. Surgical cranialization of the frontal sinus was performed. The anatomy of her lesion seen both on CT scan and intraoperatively likely explains this unusual case presentation. Instead of the usual inciting event of an intact frontal sinus drainage system becoming blocked, this patient seemed to have a primary developmental lack of any drainage system that led to her mucocele. During formation of her frontal sinus, she developed a bifid septum within the midline that excluded a portion of her frontal sinus from the lateral nasofrontal ducts. With mucus-producing epithelium trapped within these bony confines, pressure began to mount with expansion and thinning of the bone both anteriorly and posteriorly. The lack of any infectious symptoms and sterile culture results may support that this space developed primarily and was never in continuity with the external drainage system. Only 4 other patients have been reported with asymptomatic forehead swelling as the only presenting symptom, with the age ranging from 33 to 79 years. This patient represents the first clinical report of a congenital

  12. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

    PubMed

    Zaharieva, Irina T; Thor, Michael G; Oates, Emily C; van Karnebeek, Clara; Hendson, Glenda; Blom, Eveline; Witting, Nanna; Rasmussen, Magnhild; Gabbett, Michael T; Ravenscroft, Gianina; Sframeli, Maria; Suetterlin, Karen; Sarkozy, Anna; D'Argenzio, Luigi; Hartley, Louise; Matthews, Emma; Pitt, Matthew; Vissing, John; Ballegaard, Martin; Krarup, Christian; Slørdahl, Andreas; Halvorsen, Hanne; Ye, Xin Cynthia; Zhang, Lin-Hua; Løkken, Nicoline; Werlauff, Ulla; Abdelsayed, Mena; Davis, Mark R; Feng, Lucy; Phadke, Rahul; Sewry, Caroline A; Morgan, Jennifer E; Laing, Nigel G; Vallance, Hilary; Ruben, Peter; Hanna, Michael G; Lewis, Suzanne; Kamsteeg, Erik-Jan; Männikkö, Roope; Muntoni, Francesco

    2016-03-01

    Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological features on muscle biopsy. The phenotype ranges from foetal akinesia resulting in in utero or neonatal mortality, to milder disorders that are not life-limiting. Over the past decade, more than 20 new congenital myopathy genes have been identified. Most encode proteins involved in muscle contraction; however, mutations in ion channel-encoding genes are increasingly being recognized as a cause of this group of disorders. SCN4A encodes the α-subunit of the skeletal muscle voltage-gated sodium channel (Nav1.4). This channel is essential for the generation and propagation of the muscle action potential crucial to muscle contraction. Dominant SCN4A gain-of-function mutations are a well-established cause of myotonia and periodic paralysis. Using whole exome sequencing, we identified homozygous or compound heterozygous SCN4A mutations in a cohort of 11 individuals from six unrelated kindreds with congenital myopathy. Affected members developed in utero- or neonatal-onset muscle weakness of variable severity. In seven cases, severe muscle weakness resulted in death during the third trimester or shortly after birth. The remaining four cases had marked congenital or neonatal-onset hypotonia and weakness associated with mild-to-moderate facial and neck weakness, significant neonatal-onset respiratory and swallowing difficulties and childhood-onset spinal deformities. All four surviving cohort members experienced clinical improvement in the first decade of life. Muscle biopsies showed myopathic features including fibre size variability, presence of fibrofatty tissue of varying severity, without specific structural abnormalities. Electrophysiology suggested a myopathic process, without myotonia. In vitro functional assessment in HEK293 cells of the impact of the identified SCN4A

  13. Assessing factors causing severe injuries in crashes of high-deck buses in long-distance driving on freeways.

    PubMed

    Chu, Hsing-Chung

    2014-01-01

    High-deck buses that have a higher center of gravity traveling at an excessive speed have a higher likelihood of causing serious and fatal accidents when drivers lose control of the vehicle. In addition, drivers who suffer from fatigue in long-distance driving increase the likelihood of serious accident. This paper examines the effects of risk factors contributing to severe crashes associated with high-deck buses used for long-distance driving on freeways. An ordered logit and latent class models are used to examine significant factors on the severity of injuries in crashes related to high-deck buses. Driver fatigue, drivers or passengers not wearing a seat belt, reckless driving, drunk driving, crashes occurred between midnight and dawn, and crashes occurred at interchange ramps were found to significantly affect the severity of injuries in crashes involving high-deck buses. Safety policies to prevent severe injuries in crashes involving high deck buses used for long-distance runs on freeways include: (1) restricting drivers from exceeding the limit of daily driving hours and mandating sufficient rest breaks; (2) installing an automatic sleep-warning device in the vehicle; (3) drivers with obstructive sleep apnea syndrome or sleep disorders should be tested and treated before they are allowed to perform long hours of driving tasks; (4) educating the public or even amending the seatbelt legislation to require all passengers to wear a seat belt and thus reduce the chance of ejection from a high-deck bus and prevent serious injuries in a crash while traveling at a higher speed on freeways. PMID:24144498

  14. Hysteroscopy- and laparoscopy-based diagnosis and treatment of girls with unbroken hymen with an obstructing uterine septum: two case reports

    PubMed Central

    2014-01-01

    Introduction Obstructing uterine septum is a rare uterine malformation. Patients with obstructing uterine septum are usually treated with laparouterotomy, causing obvious injury to both the uterus and body of the patients. Therefore, using the natural channel of the vagina is undoubtedly the best way to carry out the surgery. However, obstructing uterine septum usually occurs in puberty in girls without a history of sexual intercourse, thus iatrogenic damage to the hymen during the diagnosis and treatment cannot probably be avoided. However, Chinese people traditionally tend to use hymen intactness as a standard to judge whether an unmarried woman is chaste. Therefore, in China, to protect the hymen from damage during hysteroscopic diagnosis and treatment is of special significance for girls and women with unbroken hymens. None of the previously reported cases were treated with electrosurgical obstructing uterine septum excision based on B-ultrasound-guided hymen-protecting hysteroscopy and laparoscopy. Case presentation Case 1 patient was a virgo intacta 13-year-old Chinese girl. She was admitted due to an 8-day post-menstruation lower abdominal pain. With the guidance of B-ultrasound, we observed a 30mm×20mm mixed echogenicity mass in her uterine cavity. Case 2 patient was a virgo intacta 14-year-old Chinese girl. She was admitted to our hospital more than 6 months after secondary dysmenorrhea and 6 days after B-ultrasound-diagnosed uterine malformations. We observed a 30mm×25mm mixed echoic area in her uterine cavity with the guidance of B-ultrasound. Both patients were surgically treated without hymen damage with B-ultrasound-guided combined therapy of hysteroscopy and laparoscopy. A needle electrode with an 8mm diameter was placed into their uterine cavities under hysteroscopy. After obstructing uterine septum removal, their uterine cavities showed normal morphology. To protect their hymens, misoprostol was placed into their rectums to soften their cervices

  15. Fusarium Wilt of Banana Is Caused by Several Pathogens Referred to as Fusarium oxysporum f. sp. cubense.

    PubMed

    Ploetz, Randy C

    2006-06-01

    ABSTRACT Fusarium wilt of banana (also known as Panama disease) is caused by Fusarium oxysporum f. sp. cubense. Where susceptible cultivars are grown, management is limited to the use of pathogen-free planting stock and clean soils. Resistant genotypes exist for some applications, but resistance is still needed in other situations. Progress has been made with this recalcitrant crop by traditional and nontraditional improvement programs. The disease was first reported in Australia in 1876, but did the greatest damage in export plantations in the western tropics before 1960. A new variant, tropical race 4, threatens the trades that are now based on Cavendish cultivars, and other locally important types such as the plantains. Phylogenetic studies indicate that F. oxysporum f. sp. cubense had several independent evolutionary origins. The significance of these results and the future impact of this disease are discussed. PMID:18943184

  16. Cause-specific mortality in individuals with severe alpha 1-antitrypsin deficiency in comparison with the general population in Sweden

    PubMed Central

    Tanash, Hanan A; Ekström, Magnus; Wagner, Philippe; Piitulainen, Eeva

    2016-01-01

    Background Severe alpha 1-antitrypsin deficiency (PiZZ) predisposes to morbidity and mortality due to early-onset emphysema and liver disease. The risk of death from other causes, including cardiovascular disease and cancer, has not been well investigated. We aimed to analyze cause-specific mortality in PiZZ individuals compared with the general Swedish population. Methods Data on 1,561 PiZZ individuals from the Swedish National AAT Deficiency Register, prospectively followed from 1991 to 2014, were analyzed. Causes of death according to the Swedish National Causes of Death Register for the study group were compared with those for the general Swedish population matched for age, sex, and calendar year, with the excess mortality expressed as standardized mortality ratios (SMRs) with 95% confidence intervals (CIs). Results There were 524 deaths during the follow-up period. PiZZ individuals had excess all-cause mortality compared with the Swedish general population (SMR 3.6, 95% CI 3.3–3.9). SMR for ischemic heart disease (IHD) was 0.5 (95% CI 0.3–0.8) and was similar for never and ever-smokers, and in males and females. SMR for lung cancer was 0.9 (95% CI 0.4–1.7). PiZZ individuals had increased mortality compared with the general population for the following diseases: respiratory disease, SMR 48.4 (95% CI 43.0–54.5); primary liver carcinoma, SMR 90.0 (95% CI 59.3–130.9); complicated colon diverticulitis, SMR 20.8 (95% CI 6.7–48.6); and pulmonary embolism, SMR 6.9 (95% CI 3.3–12.7). Conclusion PiZZ individuals had a reduced mortality risk of IHD. Mortality due to respiratory, hepatic disease, diverticulitis, and pulmonary embolism was markedly increased compared with the age- and sex-matched Swedish population. PMID:27555756

  17. Trimethoprim-sulfamethoxazole versus vancomycin for severe infections caused by meticillin resistant Staphylococcus aureus: randomised controlled trial

    PubMed Central

    Bishara, Jihad; Yahav, Dafna; Goldberg, Elad; Neuberger, Ami; Ghanem-Zoubi, Nesrin; Dickstein, Yaakov; Nseir, William; Dan, Michael; Leibovici, Leonard

    2015-01-01

    Objective To show non-inferiority of trimethoprim-sulfamethoxazole compared with vancomycin for the treatment of severe infections due to meticillin resistant Staphylococcus aureus (MRSA). Design Parallel, open label, randomised controlled trial. Setting Four acute care hospitals in Israel. Participants Adults with severe infections caused by MRSA susceptible to trimethoprim-sulfamethoxazole and vancomycin. Patients with left sided endocarditis, meningitis, chronic haemodialysis, and prolonged neutropenia were excluded. Interventions Trimethoprim-sulfamethoxazole 320 mg/1600 mg twice daily versus vancomycin 1 g twice daily for a minimum of seven days and then by indication. Main outcome measures The primary efficacy outcome was treatment failure assessed at day 7, consisting of death, persistence of haemodynamic instability or fever, stable or worsening Sequential Organ Failure Assessment score, and persistence of bacteraemia. The primary safety outcome was all cause mortality at day 30. Non-inferiority was defined by a difference of less than 15% for treatment failure. Results 252 patients were included in the trial, of whom 91 (36%) had bacteraemia. No significant difference in treatment failure was seen for trimethoprim-sulfamethoxazole (51/135, 38%) versus vancomycin (32/117, 27%)—risk ratio 1.38 (95% confidence interval 0.96 to 1.99). However, trimethoprim-sulfamethoxazole did not meet the non-inferiority criterion—absolute difference 10.4% (95% confidence interval −1.2% to 21.5%). For patients with bacteraemia, the risk ratio was 1.40 (0.91 to 2.16). In a multivariable logistic regression analysis, trimethoprim-sulfamethoxazole was significantly associated with treatment failure (adjusted odds ratio 2.00, 1.09 to 3.65). The 30 day mortality rate was 32/252 (13%), with no significant difference between arms. Among patients with bacteraemia, 14/41 (34%) treated with trimethoprim-sulfamethoxazole and 9/50 (18%) with vancomycin died (risk ratio 1.90, 0

  18. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

    PubMed

    Abou Jamra, Rami; Philippe, Orianne; Raas-Rothschild, Annick; Eck, Sebastian H; Graf, Elisabeth; Buchert, Rebecca; Borck, Guntram; Ekici, Arif; Brockschmidt, Felix F; Nöthen, Markus M; Munnich, Arnold; Strom, Tim M; Reis, Andre; Colleaux, Laurence

    2011-06-10

    Intellectual disability inherited in an autosomal-recessive fashion represents an important fraction of severe cognitive-dysfunction disorders. Yet, the extreme heterogeneity of these conditions markedly hampers gene identification. Here, we report on eight affected individuals who were from three consanguineous families and presented with severe intellectual disability, absent speech, shy character, stereotypic laughter, muscular hypotonia that progressed to spastic paraplegia, microcephaly, foot deformity, decreased muscle mass of the lower limbs, inability to walk, and growth retardation. Using a combination of autozygosity mapping and either Sanger sequencing of candidate genes or next-generation exome sequencing, we identified one mutation in each of three genes encoding adaptor protein complex 4 (AP4) subunits: a nonsense mutation in AP4S1 (NM_007077.3: c.124C>T, p.Arg42(∗)), a frameshift mutation in AP4B1 (NM_006594.2: c.487_488insTAT, p.Glu163_Ser739delinsVal), and a splice mutation in AP4E1 (NM_007347.3: c.542+1_542+4delGTAA, r.421_542del, p.Glu181Glyfs(∗)20). Adaptor protein complexes (AP1-4) are ubiquitously expressed, evolutionarily conserved heterotetrameric complexes that mediate different types of vesicle formation and the selection of cargo molecules for inclusion into these vesicles. Interestingly, two mutations affecting AP4M1 and AP4E1 have recently been found to cause cerebral palsy associated with severe intellectual disability. Combined with previous observations, these results support the hypothesis that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning and demonstrate the existence of a clinically recognizable syndrome due to deficiency of the AP4 complex. PMID:21620353

  19. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

    PubMed Central

    Zaharieva, Irina T.; Thor, Michael G.; Oates, Emily C.; van Karnebeek, Clara; Hendson, Glenda; Blom, Eveline; Witting, Nanna; Rasmussen, Magnhild; Gabbett, Michael T.; Ravenscroft, Gianina; Sframeli, Maria; Suetterlin, Karen; Sarkozy, Anna; D’Argenzio, Luigi; Hartley, Louise; Matthews, Emma; Pitt, Matthew; Vissing, John; Ballegaard, Martin; Krarup, Christian; Slørdahl, Andreas; Halvorsen, Hanne; Ye, Xin Cynthia; Zhang, Lin-Hua; Løkken, Nicoline; Werlauff, Ulla; Abdelsayed, Mena; Davis, Mark R.; Feng, Lucy; Phadke, Rahul; Sewry, Caroline A.; Morgan, Jennifer E.; Laing, Nigel G.; Vallance, Hilary; Ruben, Peter; Hanna, Michael G.; Lewis, Suzanne; Kamsteeg, Erik-Jan; Männikkö, Roope

    2016-01-01

    See Cannon (doi:10.1093/brain/awv400) for a scientific commentary on this article. Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological features on muscle biopsy. The phenotype ranges from foetal akinesia resulting in in utero or neonatal mortality, to milder disorders that are not life-limiting. Over the past decade, more than 20 new congenital myopathy genes have been identified. Most encode proteins involved in muscle contraction; however, mutations in ion channel-encoding genes are increasingly being recognized as a cause of this group of disorders. SCN4A encodes the α-subunit of the skeletal muscle voltage-gated sodium channel (Nav1.4). This channel is essential for the generation and propagation of the muscle action potential crucial to muscle contraction. Dominant SCN4A gain-of-function mutations are a well-established cause of myotonia and periodic paralysis. Using whole exome sequencing, we identified homozygous or compound heterozygous SCN4A mutations in a cohort of 11 individuals from six unrelated kindreds with congenital myopathy. Affected members developed in utero- or neonatal-onset muscle weakness of variable severity. In seven cases, severe muscle weakness resulted in death during the third trimester or shortly after birth. The remaining four cases had marked congenital or neonatal-onset hypotonia and weakness associated with mild-to-moderate facial and neck weakness, significant neonatal-onset respiratory and swallowing difficulties and childhood-onset spinal deformities. All four surviving cohort members experienced clinical improvement in the first decade of life. Muscle biopsies showed myopathic features including fibre size variability, presence of fibrofatty tissue of varying severity, without specific structural abnormalities. Electrophysiology suggested a myopathic process, without myotonia. In vitro

  20. The 80 kV electrostatic wire septum for AmPS

    NASA Astrophysics Data System (ADS)

    Vanderlinden, A.; Bijleveld, J. H. M.; Rookhuizen, H. Boer; Bruinsma, P. J. T.; Heine, E.; Lassing, P.; Prins, E.

    The characteristics of the wire septum for the Amsterdam Pulse Stretcher (AmPS) are summarized. In the extraction process of the AmPS the extracted beam is intercepted from the circulating beam by the 1 m long electrostatic wire septum. For a bending angle of 4.4 mrad, the maximum anode voltage is 80 kV. The system developed consists of a wire spacing of 0.65 mm between tungsten wires of 50 micrometers diameter. Stainless steel spring wires, bent in a half cylindrical carrier, stretch the septum wires two by two. Prototype tests were successful up to an anode voltage of 120 kV.

  1. Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

    PubMed

    Chong, Jessica X; Caputo, Viviana; Phelps, Ian G; Stella, Lorenzo; Worgan, Lisa; Dempsey, Jennifer C; Nguyen, Alina; Leuzzi, Vincenzo; Webster, Richard; Pizzuti, Antonio; Marvin, Colby T; Ishak, Gisele E; Ardern-Holmes, Simone; Richmond, Zara; Bamshad, Michael J; Ortiz-Gonzalez, Xilma R; Tartaglia, Marco; Chopra, Maya; Doherty, Dan

    2016-04-01

    Infantile encephalopathies are a group of clinically and biologically heterogeneous disorders for which the genetic basis remains largely unknown. Here, we report a syndromic neonatal encephalopathy characterized by profound developmental disability, severe hypotonia, seizures, diminished respiratory drive requiring mechanical ventilation, brain atrophy, dysgenesis of the corpus callosum, cerebellar vermis hypoplasia, and facial dysmorphism. Biallelic inactivating mutations in TBCK (TBC1-domain-containing kinase) were independently identified by whole-exome sequencing as the cause of this condition in four unrelated families. Matching these families was facilitated by the sharing of phenotypic profiles and WES data in a recently released web-based tool (Geno2MP) that links phenotypic information to rare variants in families with Mendelian traits. TBCK is a putative GTPase-activating protein (GAP) for small GTPases of the Rab family and has been shown to control cell growth and proliferation, actin-cytoskeleton dynamics, and mTOR signaling. Two of the three mutations (c.376C>T [p.Arg126(∗)] and c.1363A>T [p.Lys455(∗)]) are predicted to truncate the protein, and loss of the major TBCK isoform was confirmed in primary fibroblasts from one affected individual. The third mutation, c.1532G>A (p.Arg511His), alters a conserved residue within the TBC1 domain. Structural analysis implicated Arg511 as a required residue for Rab-GAP function, and in silico homology modeling predicted impaired GAP function in the corresponding mutant. These results suggest that loss of Rab-GAP activity is the underlying mechanism of disease. In contrast to other disorders caused by dysregulated mTOR signaling associated with focal or global brain overgrowth, impaired TBCK function results in progressive loss of brain volume. PMID:27040692

  2. A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

    PubMed

    Alston, Charlotte L; Ceccatelli Berti, Camilla; Blakely, Emma L; Oláhová, Monika; He, Langping; McMahon, Colin J; Olpin, Simon E; Hargreaves, Iain P; Nolli, Cecilia; McFarland, Robert; Goffrini, Paola; O'Sullivan, Maureen J; Taylor, Robert W

    2015-08-01

    Succinate dehydrogenase (SDH) is a crucial metabolic enzyme complex that is involved in ATP production, playing roles in both the tricarboxylic cycle and the mitochondrial respiratory chain (complex II). Isolated complex II deficiency is one of the rarest oxidative phosphorylation disorders with mutations described in three structural subunits and one of the assembly factors; just one case is attributed to recessively inherited SDHD mutations. We report the pathological, biochemical, histochemical and molecular genetic investigations of a male neonate who had left ventricular hypertrophy detected on antenatal scan and died on day one of life. Subsequent postmortem examination confirmed hypertrophic cardiomyopathy with left ventricular non-compaction. Biochemical analysis of his skeletal muscle biopsy revealed evidence of a severe isolated complex II deficiency and candidate gene sequencing revealed a novel homozygous c.275A>G, p.(Asp92Gly) SDHD mutation which was shown to be recessively inherited through segregation studies. The affected amino acid has been reported as a Dutch founder mutation p.(Asp92Tyr) in families with hereditary head and neck paraganglioma. By introducing both mutations into Saccharomyces cerevisiae, we were able to confirm that the p.(Asp92Gly) mutation causes a more severe oxidative growth phenotype than the p.(Asp92Tyr) mutant, and provides functional evidence to support the pathogenicity of the patient's SDHD mutation. This is only the second case of mitochondrial complex II deficiency due to inherited SDHD mutations and highlights the importance of sequencing all SDH genes in patients with biochemical and histochemical evidence of isolated mitochondrial complex II deficiency. PMID:26008905

  3. Successful use of N-acetylcysteine to treat severe hepatic injury caused by a dietary fitness supplement.

    PubMed

    El Rahi, Cynthia; Thompson-Moore, Nathaniel; Mejia, Patricia; De Hoyos, Patricio

    2015-06-01

    In the absence of adequate premarketing efficacy and safety evaluations, adverse events from over-the-counter supplements are emerging as a public health concern. Specifically, bodybuilding products are being identified as a frequent cause of drug-induced liver injury. We present a case of a 20-year-old Hispanic male who presented with acute nausea and vomiting accompanied by severe right upper quadrant abdominal pain, shivering, and shortness of breath. Laboratory data pointed to mixed cholestatic and hepatocellular damage, and after exclusion of known alternate etiologies, the patient was diagnosed with acute drug-induced liver injury secondary to the use of "Friction," a bodybuilding supplement. Treatment with N-acetylcysteine (NAC) 20% oral solution was initiated empirically at a dose of 4000 mg [DOSAGE ERROR CORRECTED] (70 mg/kg) every 4 hours and was continued once the diagnosis was made. Within 48 hours of admission to our hospital, the patient began to show clinical resolution of right abdominal pain and tolerance to oral diet associated with a significant decline toward normal in his liver function tests and coagulopathy. The WHO-UMC causality assessment system suggested a "certain causality" between exposure to the supplement and the acute liver injury. In the event of suspected drug-induced liver injury, treatment with NAC should be considered given its favorable risk-benefit profile. PMID:25823877

  4. Key Molecular Mechanisms of Chaiqinchengqi Decoction in Alleviating the Pulmonary Albumin Leakage Caused by Endotoxemia in Severe Acute Pancreatitis Rats.

    PubMed

    Wu, Wei; Luo, Ruijie; Lin, Ziqi; Xia, Qing; Xue, Ping

    2016-01-01

    To reveal the key molecular mechanisms of Chaiqinchengqi decoction (CQCQD) in alleviating the pulmonary albumin leakage caused by endotoxemia in severe acute pancreatitis (SAP) rats. Rats models of SAP endotoxemia-induced acute lung injury were established, the studies in vivo provided the important evidences that the therapy of CQCQD significantly ameliorated the increases in plasma levels of lipopolysaccharide (LPS), sCd14, and Lbp, the elevation of serum amylase level, the enhancements of systemic and pulmonary albumin leakage, and the depravation of airways indicators, thus improving respiratory dysfunction and also pancreatic and pulmonary histopathological changes. According to the analyses of rats pulmonary tissue microarray and protein-protein interaction network, c-Fos, c-Src, and p85α were predicted as the target proteins for CQCQD in alleviating pulmonary albumin leakage. To confirm these predictions, human umbilical vein endothelial cells were employed in in vitro studies, which provide the evidences that (1) LPS-induced paracellular leakage and proinflammatory cytokines release were suppressed by pretreatment with inhibitors of c-Src (PP1) or PI3K (LY294002) or by transfection with siRNAs of c-Fos; (2) fortunately, CQCQD imitated the actions of these selective inhibitions agents to inhibit LPS-induced high expressions of p-Src, p-p85α, and c-Fos, therefore attenuating paracellular leakage and proinflammatory cytokines release. PMID:27413385

  5. A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia

    PubMed Central

    Johansson, Joel; Sahin, Christofer; Pestoff, Rebecka; Ignatova, Simone; Forsberg, Pia; Edsjö, Anders; Ekstedt, Mattias; Stenmark Askmalm, Marie

    2015-01-01

    Juvenile polyposis syndrome (JPS) is a rare genetic disorder characterized by juvenile polyps of the gastrointestinal tract. We present a new pathogenic mutation of the SMAD4 gene and illustrate the need for a multidisciplinary health care approach to facilitate the correct diagnosis. The patient, a 47-year-old Caucasian woman, was diagnosed with anaemia at the age of 12. During the following 30 years, she developed numerous gastrointestinal polyps. The patient underwent several operations, and suffered chronic abdominal pain, malnutrition, and multiple infections. Screening of the SMAD4 gene revealed a novel, disease-causing mutation. In 2012, the patient suffered hypoalbuminemia and a large polyp in the small bowel was found. Gamma globulin was given but the patient responded with fever and influenza-like symptoms and refused more treatment. The patient underwent surgery in 2014 and made an uneventful recovery. At follow-up two months later albumin was 38 g/L and IgG was 6.9 g/L. Accurate diagnosis is essential for medical care. For patients with complex symptomatology, often with rare diseases, this is best provided by multidisciplinary teams including representatives from clinical genetics. Patients with a SMAD4 mutation should be followed up both for JPS and haemorrhagic hereditary telangiectasia and may develop protein loosing enteropathy and immunodeficiency. PMID:25705527

  6. NK cells are intrinsically functional in pigs with Severe Combined Immunodeficiency (SCID) caused by spontaneous mutations in the Artemis gene.

    PubMed

    Powell, Ellis J; Cunnick, Joan E; Knetter, Susan M; Loving, Crystal L; Waide, Emily H; Dekkers, Jack C M; Tuggle, Christopher K

    2016-07-01

    We have identified Severe Combined Immunodeficiency (SCID) in a line of Yorkshire pigs at Iowa State University. These SCID pigs lack B-cells and T-cells, but possess Natural Killer (NK) cells. This SCID phenotype is caused by recessive mutations in the Artemis gene. Interestingly, two human tumor cell lines, PANC-1 and A375-SM, survived after injection into these SCID pigs, but, as we demonstrate here, these cells, as well as K562 tumor cells, can be lysed in vitro by NK cells from SCID and non-SCID pigs. NK cells from both SCID and non-SCID pigs required activation in vitro with either recombinant human IL-2 or the combination of recombinant porcine IL-12 and IL-18 to kill tumor targets. We also showed that SCID NK cells could be activated to produce perforin, and perforin production was greatly enhanced in NK cells from both SCID and non-SCID pigs after IL-2 cytokine treatment. While CD16+, CD172- NK cells constituted an average of only 4% in non-SCID pigs, NK cells averaged 27% of the peripheral blood mononuclear cell population in SCID pigs. We found no significant differences in killing activity per NK cell between SCID and non-SCID pigs. We conclude that survival of human cancer cells in these SCID pigs is not due to an intrinsic defect in NK cell killing ability. PMID:27269786

  7. Key Molecular Mechanisms of Chaiqinchengqi Decoction in Alleviating the Pulmonary Albumin Leakage Caused by Endotoxemia in Severe Acute Pancreatitis Rats

    PubMed Central

    Wu, Wei; Luo, Ruijie; Lin, Ziqi; Xia, Qing

    2016-01-01

    To reveal the key molecular mechanisms of Chaiqinchengqi decoction (CQCQD) in alleviating the pulmonary albumin leakage caused by endotoxemia in severe acute pancreatitis (SAP) rats. Rats models of SAP endotoxemia-induced acute lung injury were established, the studies in vivo provided the important evidences that the therapy of CQCQD significantly ameliorated the increases in plasma levels of lipopolysaccharide (LPS), sCd14, and Lbp, the elevation of serum amylase level, the enhancements of systemic and pulmonary albumin leakage, and the depravation of airways indicators, thus improving respiratory dysfunction and also pancreatic and pulmonary histopathological changes. According to the analyses of rats pulmonary tissue microarray and protein-protein interaction network, c-Fos, c-Src, and p85α were predicted as the target proteins for CQCQD in alleviating pulmonary albumin leakage. To confirm these predictions, human umbilical vein endothelial cells were employed in in vitro studies, which provide the evidences that (1) LPS-induced paracellular leakage and proinflammatory cytokines release were suppressed by pretreatment with inhibitors of c-Src (PP1) or PI3K (LY294002) or by transfection with siRNAs of c-Fos; (2) fortunately, CQCQD imitated the actions of these selective inhibitions agents to inhibit LPS-induced high expressions of p-Src, p-p85α, and c-Fos, therefore attenuating paracellular leakage and proinflammatory cytokines release. PMID:27413385

  8. NUDT15 R139C causes thiopurine-induced early severe hair loss and leukopenia in Japanese patients with IBD.

    PubMed

    Kakuta, Y; Naito, T; Onodera, M; Kuroha, M; Kimura, T; Shiga, H; Endo, K; Negoro, K; Kinouchi, Y; Shimosegawa, T

    2016-06-01

    The efficacy of thiopurines, including azathioprine (AZA) and 6-mercaptopurine (6MP), has been demonstrated for the treatment of inflammatory bowel disease (IBD). The most common and serious adverse event of treatment with thiopurines altered by doctors is leukopenia. Hair loss is also a serious event that could be a critical reason for patients to decline thiopurine treatment. Thiopurine-induced severe hair loss causes cosmetic problems, and it takes a long time to recover. In a recent study, NUDT15 R139C was strongly associated with thiopurine-induced leukopenia in Korean and Caucasian populations. In this study, we performed an association study to investigate and replicate the association of R139C with adverse events of thiopurines in Japanese patients. A total of 142 Japanese patients with IBD, with histories of thiopurine treatment, were examined. NUDT15 R139C was genotyped using a custom TaqMan genotyping assay. Adverse events including leukopenia were reviewed from medical records. The 6MP dose was adjusted to AZA equivalents by multiplying with 2 as a thiopurine dose. Five patients developed severe hair loss and all of them were risk homozygous (T/T) for R139C. No early severe hair loss was observed in patients with the C/T or C/C genotype (P=3.82 × 10(-16), odds ratio=212). The association of R139C with early (<8 weeks) leukopenia (white blood cells<3000 mm(-3)), which was previously reported in Korean patients, was replicated in our Japanese IBD cohort (P=1.92 × 10(-16), odds ratio=28.4). However, we could not confirm the association with late leukopenia in the Japanese subjects. Patients with the C/T genotype discontinued treatment or required thiopurine dose reduction significantly earlier than patients with the C/C genotype (P=1.45 × 10(-4)); however, on manipulating the doses, there was no significant difference in the thiopurine continuation rates between the groups. In the maintenance period, the frequencies of 6MP usage were higher, and the

  9. Hypoplastic left heart syndrome with intact atrial septum: case report

    PubMed Central

    Cester, Maddalena; Nanhorngue, Kimta; Pascoli, Irene; Garofano, Greta; Surico, Nicola; Paternoster, Delia Maria

    2007-01-01

    Summary Objectives Hypoplastic left heart syndrome (HLHS) with an intact atrial septum (IAS) is a rare finding, reported in only 1% of pathologic specimens with hypoplasia of the aortic tract complex. In newborns with left heart obstruction, the existence of an interatrial communication is very important for oxygenated blood to be distributed to the body and to prevent pulmonary congestion. The ability to predict prenatally restriction of the atrial defect may allow earlier surgery to be planned. Methods We report a case of prenatal diagnosis of HLHS with a complete premature closure of the foramen ovale that was not detected by prenatal echocardiography. Results and conclusion The management of neonates with HLHS in the first days of life is crucial to the results of the first stage of the Norwood procedure. We suggest that delivery of the mother close to surgical centre and avoiding neonatal transfer improve the results, but stabilisation with prostaglandins and balancing of the systemic and pulmonary resistances are also important. A restrictive or closed atrial septal defect may contribute to haemodynamic instability in the first days of life. The ability to predict this complication prenatally may help in the immediate postnatal management of the affected infant. PMID:22470823

  10. Deviated nasal septum hinders intranasal sprays: A computer simulation study

    PubMed Central

    Frank, Dennis O.; Kimbell, Julia S.; Cannon, Daniel; Pawar, Sachin S.; Rhee, John S.

    2013-01-01

    Background This study investigates how deviated nasal septum affects the quantity and distribution of spray particles, and examines the effects of inspiratory airflow and head position on particle transport. Methods Deposition of spray particles was analysed using a three-dimensional computational fluid dynamics model created from a computed tomography scan of a human nose with leftward septal deviation and a right inferior turbinate hypertrophy. Five simulations were conducted using Fluent™ software, with particle sizes ranging from 20-110μm, a spray speed of 3m/s, plume angle of 68°, and with steady state inspiratory airflow either present (15.7L/min) or absent at varying head positions. Results With inspiratory airflow present, posterior deposition on the obstructed side was approximately four times less than the contralateral side, regardless of head position, and was statistically significant (p<0.05). When airflow was absent, predicted deposition beyond the nasal valve on the left and right sides were between 16% and 69% lower and positively influenced by a dependent head position. Conclusions Simulations predicted that septal deviation significantly diminished drug delivery on the obstructed side. Furthermore, increased particle penetration was associated with presence of nasal airflow. Head position is an important factor in particle deposition patterns when inspiratory airflow is absent. PMID:22888490

  11. Hemivaginal septum resection in a patient with a rare variant of Herlyn-Werner-Wunderlich syndrome.

    PubMed

    Pereira, Nigel; Anderson, Sharon H; Verrecchio, Elizabeth S; Brown, M Allyson; Glassner, Michael J

    2014-01-01

    Herlyn-Werner-Wunderlich syndrome is characterized by a triad of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. The syndrome should be suspected in any young woman with abdominal pain or cyclic dysmenorrhea, and radiologic evidence of müllerian duct and renal anomalies. Herein is presented the case of a 25-year-old woman with a rare variant of Herlyn-Werner-Wunderlich syndrome, characterized by an anomalous connection between the 2 endocervical canals, who underwent hemivaginal septum resection to relieve progressively worsening dysmenorrhea. The right hemivaginal septum was resected medially from the left cervix and laterally off the right vaginal wall. Hydrodissection between the hemivaginal septum and right cervix facilitated surgical resection. After resection of the hemivaginal septum there was complete resolution of dysmenorrhea and no recurrence of hematometra or hematocolpos. PMID:24858986

  12. The case of a cyst hydatid localized within the interatrial septum.

    PubMed

    Karabay, Ozalp; Onen, Ahmet; Yildiz, Fidan; Yilmaz, Erkan; Erdal, Cenk A; Sanli, Aydin; Kilci, Göksel; Algin, Ibrahim; Itil, Oya; Açikel, Unal

    2004-07-01

    The ratio of cardiac involvement of Echinoccocus granulosus is 0.02-2% and although seen rarely, involvement of the interatrial septum has also been reported in the published literature. The present case was a 19-year-old male university student admitted to hospital with complaints of headache and dizziness. Computerized tomography of the cranium revealed a cystic mass located at the frontal region and enucleation of the cyst was performed during surgery. A cystic lesion 5 x 4 cm in size was detected within the interatrial septum on two-dimensional transthoracic echocardiography during the postoperative period and the patient was referred to our clinic. Open heart surgery was performed and a hydatid cyst that involved the interatrial septum was enucleated. The cyst wall was sutured to the interatrial septum. No complications developed during the postoperative period. The patient was discharged on the fifth day of hospitalization and medical therapy was started with albendazole. PMID:15353883

  13. Ecology of the Tick-Borne Phlebovirus Causing Severe Fever with Thrombocytopenia Syndrome in an Endemic Area of China

    PubMed Central

    Hu, Jianli; Liu, Wendong; Wang, Xiaochen; Zhang, Lei; Ji, Zhengmin; Feng, Zhi; Li, Luxun; Shen, Aihua; Liu, Xuejian; Zhao, Hongjun; Tan, Wenwen; Zhou, Jiangang; Qi, Xian; Zhu, Yefei; Tang, Fenyang; Cardona, Carol J.; Xing, Zheng

    2016-01-01

    Background Severe fever with thrombocytopenia syndrome (SFTS) is caused by SFTS virus (SFTSV), a tick-borne phlebovirus in family Bunyaviridae. Studies have found that humans, domestic and wildlife animals can be infected by SFTSV. However, the viral ecology, circulation, and transmission remain largely unknown. Methodology/Principal Findings Sixty seven human SFTS cases were reported and confirmed by virus isolation or immunofluorescence assay between 2011 and 2014. In 2013–2014 we collected 9,984 ticks from either vegetation or small wild mammals in the endemic area in Jiangsu, China, and detected SFTSV-RNA by real-time RT-PCR in both questing and feeding Haemaphysalis longicornis and H. flava. Viral RNA was identified in larvae of H. longicornis prior to a first blood meal, which has never been confirmed previously in nature. SFTSV-RNA and antibodies were also detected by RT-PCR and ELISA, respectively, in wild mammals including Erinaceus europaeus and Sorex araneus. A live SFTSV was isolated from Erinaceus europaeus captured during the off tick-feeding season and with a high SFTSV antibody titer. Furthermore, SFTSV antibodies were detected in the migratory birds Anser cygnoides and Streptopelia chinensis using ELISA. Conclusions/Significance The detection of SFTSV-RNA in non-engorged larvae indicated that vertical transmission of SFTSV in H. longicornis might occur in nature, which suggests that H. longicornis is a putative reservoir host of SFTSV. Small wild mammals such as Erinaceus europaeus and Sorex araneus could be infected by SFTSV and may serve as natural amplifying hosts. Our data unveiled that wild birds could be infected with SFTSV or carry SFTSV-infected ticks and thus might contribute to the long-distance spread of SFTSV via migratory flyways. These findings provide novel insights for understanding SFTSV ecology, reservoir hosts, and transmission in nature and will help develop new measures in preventing its rapid spread both regionally and

  14. [Septum formation and cytomorphogenesis in Micrasterias denticulata after the action of ethanol].

    PubMed

    Kiermayer, O

    1966-12-01

    Cells of Micrasterias denticulata were treated with ethanol during the stage of septum formation. After this, cells were transferred into nutrient solutions and here the further development was studied. The following effects were observed: 1. A one-hour treatment of the cells with 10% ethanol lead to an irreversible inhibition of the septum growth. Because cell-elongation (bulbus-formation) remained uneffected, binuclear "double-cells" with a teratogenic "middle section" were formed. 2. The degree of differentiation of this "middle section" depends on the extent of septum formation. Thus a direct relationship between the degree of differentiation of the "middle section" and septum formation exists. 3. The experiments seem to indicate that the septum carries the prospective pattern of differentiation in a template-like manner. This fact is in good agreement with the hypothesis on a "septum-initial-pattern" in Micrasterias which we recently advanced. 4. It could be observed that in most cases the teratogenic "middle section" forms additional 3-dimensional lobes. A remarkable relationship exists between the differentiation of these lobes and the degree of lobe formation of the "middle section". PMID:24554105

  15. The contractile ring coordinates curvature-dependent septum assembly during fission yeast cytokinesis

    PubMed Central

    Zhou, Zhou; Munteanu, Emilia Laura; He, Jun; Ursell, Tristan; Bathe, Mark; Huang, Kerwyn Casey; Chang, Fred

    2015-01-01

    The functions of the actin-myosin–based contractile ring in cytokinesis remain to be elucidated. Recent findings show that in the fission yeast Schizosaccharomyces pombe, cleavage furrow ingression is driven by polymerization of cell wall fibers outside the plasma membrane, not by the contractile ring. Here we show that one function of the ring is to spatially coordinate septum cell wall assembly. We develop an improved method for live-cell imaging of the division apparatus by orienting the rod-shaped cells vertically using microfabricated wells. We observe that the septum hole and ring are circular and centered in wild-type cells and that in the absence of a functional ring, the septum continues to ingress but in a disorganized and asymmetric manner. By manipulating the cleavage furrow into different shapes, we show that the ring promotes local septum growth in a curvature-dependent manner, allowing even a misshapen septum to grow into a more regular shape. This curvature-dependent growth suggests a model in which contractile forces of the ring shape the septum cell wall by stimulating the cell wall machinery in a mechanosensitive manner. Mechanical regulation of the cell wall assembly may have general relevance to the morphogenesis of walled cells. PMID:25355954

  16. Severe and fatal central nervous system disease in humans caused by Baylisascaris procyonis, the common roundworm of raccoons: a review of current literature.

    PubMed

    Wise, Matthew E; Sorvillo, Frank J; Shafir, Shira C; Ash, Lawrence R; Berlin, O George

    2005-02-01

    Baylisascaris procyonis, a parasitic infection of raccoons, causes severe neurologic disease in humans when infective eggs from raccoon feces are ingested. Definitive diagnosis is challenging, but can be made by isolation of larvae in brain biopsy or exclusion of other potential causes of eosinophilic meningoencephalitis. Prevention efforts are critical due to the lack of effective treatment. PMID:15715975

  17. Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother.

    PubMed

    Gripp, K W; Barr, M; Anadiotis, G; McDonald-McGinn, D M; Zderic, S A; Zackai, E H

    1999-02-19

    A male patient with aphallia, anal stenosis, tetralogy of Fallot, multiple vertebral anomalies including sacral agenesis and central nervous system (CNS) malformations was born after a pregnancy complicated by poorly controlled maternal diabetes. Aphallia is an extremely rare abnormality and can be part of the urorectal septum malformation sequence (URSMS). While aphallia has not been reported in infants of diabetic mothers, urogenital malformations are known to occur with increased frequency. Two female products of pregnancies complicated by diabetes presented with multiple malformations including anal atresia and recto-vaginal fistula consistent with the diagnosis of URSMS. The three patients share CNS, cardiac, and vertebral anomalies, abnormalities secondary to abnormal blastogenesis and characteristic of diabetic embryopathy. URSMS is also caused by abnormal blastogenesis. Therefore, this particular malformation should be viewed in the context of the multiple blastogenetic abnormalities in the cases reported here. The overlap of findings of URSMS in our cases with other abnormalities of blastogenesis, such as VATER association or sacral agenesis is not surprising, as these associations are known to lack clear diagnostic boundaries. PMID:10069704

  18. Draft Genome Sequence of Vibrio parahaemolyticus Strain M0605, Which Causes Severe Mortalities of Shrimps in Mexico

    PubMed Central

    Soto-Rodríguez, Sonia; Lozano, Rodolfo; Betancourt-Lozano, Miguel

    2014-01-01

    Acute hepatopancreatic necrosis disease (AHPND), also known as early mortality syndrome (EMS), causes high mortalities in cultured shrimps in Asia (L. Tran et al., Dis. Aquat. Organ. 105:45–55, 2013, http://dx.doi.org/10.3354/dao02621). Here, we report the draft genome sequence of one Mexican strain of Vibrio parahaemolyticus that causes similar clinical signs in diseased shrimps. PMID:24604636

  19. Draft Genome Sequence of Vibrio parahaemolyticus Strain M0605, Which Causes Severe Mortalities of Shrimps in Mexico.

    PubMed

    Gomez-Gil, Bruno; Soto-Rodríguez, Sonia; Lozano, Rodolfo; Betancourt-Lozano, Miguel

    2014-01-01

    Acute hepatopancreatic necrosis disease (AHPND), also known as early mortality syndrome (EMS), causes high mortalities in cultured shrimps in Asia (L. Tran et al., Dis. Aquat. Organ. 105:45-55, 2013, http://dx.doi.org/10.3354/dao02621). Here, we report the draft genome sequence of one Mexican strain of Vibrio parahaemolyticus that causes similar clinical signs in diseased shrimps. PMID:24604636

  20. Human respiratory syncytial virus Memphis 37 grown in HEp-2 cells causes more severe disease in lambs than virus grown in vero cells

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Respiratory syncytial virus (RSV) is the most common cause of bronchiolitis in infants and young children. A small percentage of these individuals develop severe and even fatal disease. To better understand the pathogenesis of severe disease and develop therapies unique to the less-developed infan...

  1. Variation in the Developmental and Morphological Interaction Between the Nasal Septum and Facial Skeleton.

    PubMed

    Foster, Austin; Holton, Nathan

    2016-06-01

    While the nasal septum exerts a morphogenetic influence on the facial skeleton, there is evidence that this relationship is highly variable. To better appreciate the precise role of the septum, it is important understand the variable interaction between the septum and surrounding skeleton during ontogeny. Here we analyzed nasal septal and facial skeletal postnatal phenotypic variation using cross-sectional samples of C3H/HeJ and C57BL/6J mice. Initial observations indicated between-strain variation in the magnitude of septal deviation, suggesting differences in septal and facial skeletal interaction. We examined whether variation in septal deviation is due to ontogenetic differences in septal size, or whether variation in facial skeletal growth imposes spatial constraints on the septum. Using microCT we quantified septal size and deviation, and collected coordinate landmark data, which we analyzed using geometric morphometrics. C3H/HeJ mice were significantly more deviated than C57BL/6J during development. We found no differences in septal size between the two strains. However, while both strains exhibited an ontogenetic increase in snout length, C3H/HeJ mice exhibited a non-allometric reduction in nasal bone length. This appears to be influenced by between-strain variation in the spatial relationship between the nasal septum and nasofrontal suture. Unlike C57BL/6J mice, the C3H/HeJ nasal septum is positioned anterior to the nasofrontal suture potentially limiting an early direct influence of septal growth (e.g., through interstitial expansion) on sutural growth. Ultimately, our results underscore that while the septum is a key facial growth center, its precise influence on facial growth varies even in narrow morphological and taxonomic ranges. Anat Rec, 299:730-740, 2016. © 2016 Wiley Periodicals, Inc. PMID:26940849

  2. Acute life-threatening arrhythmias caused by severe hyperkalemia after induction of anesthesia in an infant with methylmalonic acidemia.

    PubMed

    Chao, Pei-Wen; Chang, Wen-Kuei; Lai, I-Wen; Liu, Chinsu; Chan, Kwok-Hon; Tsao, Cheng-Ming

    2012-05-01

    Methylmalonic acidemia (MMA) is a very rare genetic disease of metabolism that progressively leads to neurological and renal sequelae. This report describes an unusual case of a patient with MMA who developed severe hyperkalemia and severe dysrhythmia during anesthesia. A 13-month-old male infant with MMA underwent urgent insertion of a port-a-cath under general anesthesia. A life-threatening arrhythmia suddenly occurred, with severe hyperkalemia (up to 7.4 mmol/L), immediately following induction of anesthesia. Emergent resuscitation was successfully carried out, with a complete neurological recovery after 7 days after surgery. Although MMA is a rare complication, the possibility of severe hyperkalemia should be considered in the differential diagnosis of patients with MMA presenting with wide QRS complex tachycardia. The management and intraoperative complications of this disorder are reported here, and the available literature is reviewed. PMID:22632992

  3. Antimicrobial Resistance and Virulence Characterization among Escherichia coli Clinical Isolates Causing Severe Obstetric Infections in Pregnant Women

    PubMed Central

    Guiral, Elisabet; Sáez-López, Emma; Bosch, Jordi; Goncé, Anna; López, Marta; Sanz, Sergi; Vila, Jordi

    2015-01-01

    The virulence markers and the antimicrobial resistance profiles of 78 Escherichia coli isolates causing obstetric infections accompanied by sepsis or not were studied. Adhesion-related virulence factors were the most prevalent markers. Low rates of resistance to the antimicrobial agents used as first-line therapy suggest their correct implementation in stewardship guidelines. PMID:25740771

  4. A rare cause of severe periorbital edema and dermonecrotic ulcer of the eyelid in a child: brown recluse spider bite.

    PubMed

    Taşkesen, Mustafa; Akdeniz, Sedat; Taş, Taşkin; Keklikçi, Uğur; Taş, Mehmet Ali

    2011-01-01

    Spider bites are a worldwide problem. Brown recluse spider bites can lead to severe local or systemic clinical effects, such as edema, necrotic ulcer, rashes, fever, chills, nausea, vomiting, malaise, arthralgia, myalgia, hemolysis, leukocytosis, disseminated intravascular coagulation, renal failure, and death. Eyelid bites from brown recluse spiders are rare. We report a child with severe facial edema and a dermonecrotic ulcer on the eyelid. Upon laboratory examination, leukocytosis with a significant left shift was detected. The patient was treated with antibiotics, systemic corticosteroid and conservative therapy that included saline compresses and ocular lubrication. No surgical excision was required. Vision was not impaired. A dermonecrotic ulcer is a severe complication of brown recluse spider bites. Since the diagnosis is difficult, clinical and epidemiological findings and a detailed history are important for an accurate diagnosis. PMID:21534346

  5. [Severe atopy and allergy--rare hyper-IgE syndrome caused by the DOCK8 mutation as underlying condition].

    PubMed

    Koskenvuo, Minna; Kainulainen, Leena; Vanto, Timo; Lukkarinen, Heikki; Lähteenmäki, Päivi; Ruuskanen, Olli

    2015-01-01

    The DOCK8 hyperimmunoglobulin E syndrome is an autosomal recessive primary combined immunological deficiency. Severe atopic eczema having its onset in infancy, food allergies, chronic viral infections of the skin, and recurrent pneumonias are central symptoms. Serum IgE level is high and eosinophilia is found in the blood. In addition, abnormalities in the number and function of lymphocytes can be detected. The disease may be difficult to distinguish from severe allergic eczema and asthma. The diagnosis is made through a gene test. We describe a 13-year-old boy, whose disease was cured with allogenic stem cell transplantation. PMID:26237897

  6. Airway Management in a Patient with Severe Ankylosing Spondylitis Causing Bamboo Spine: Use of Aintree Intubation Catheter.

    PubMed

    Ul Haq, Muhammad Irfan; Shamim, Faisal; Lal, Shankar; Shafiq, Faraz

    2015-12-01

    Management of a case of ankylosing spondylitis can be very challenging as the airway and the central neuraxial blockade are extremely difficult to handle. Fiberoptic intubation may lead to predictable success in the face of difficult airway. We are presenting a new technique of fiberoptic intubation in a young patient, suffering from severe ankylosing spondylitis, came for total hip replacement surgery. There was anticipated difficult airway due to severe limitation in neck movement and it was successfully managed by using Aintree Intubation Catheter (AIC) with intubating fiberoptic bronchoscope. PMID:26691367

  7. De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

    PubMed Central

    Popp, Bernt; Støve, Svein I; Endele, Sabine; Myklebust, Line M; Hoyer, Juliane; Sticht, Heinrich; Azzarello-Burri, Silvia; Rauch, Anita; Arnesen, Thomas; Reis, André

    2015-01-01

    Recent studies revealed the power of whole-exome sequencing to identify mutations in sporadic cases with non-syndromic intellectual disability. We now identified de novo missense variants in NAA10 in two unrelated individuals, a boy and a girl, with severe global developmental delay but without any major dysmorphism by trio whole-exome sequencing. Both de novo variants were predicted to be deleterious, and we excluded other variants in this gene. This X-linked gene encodes N-alpha-acetyltransferase 10, the catalytic subunit of the NatA complex involved in multiple cellular processes. A single hypomorphic missense variant p.(Ser37Pro) was previously associated with Ogden syndrome in eight affected males from two different families. This rare disorder is characterized by a highly recognizable phenotype, global developmental delay and results in death during infancy. In an attempt to explain the discrepant phenotype, we used in vitro N-terminal acetylation assays which suggested that the severity of the phenotype correlates with the remaining catalytic activity. The variant in the Ogden syndrome patients exhibited a lower activity than the one seen in the boy with intellectual disability, while the variant in the girl was the most severe exhibiting only residual activity in the acetylation assays used. We propose that N-terminal acetyltransferase deficiency is clinically heterogeneous with the overall catalytic activity determining the phenotypic severity. PMID:25099252

  8. Variables Associated with Severity of Bacterial Canker and Wilt Caused by Clavibacter michiganensis subsp. michiganensis in Tomato Greenhouses.

    PubMed

    Blank, L; Cohen, Y; Borenstein, M; Shulhani, R; Lofthouse, M; Sofer, M; Shtienberg, D

    2016-03-01

    Clavibacter michiganensis subsp. michiganensis, the causal agent of bacterial canker and wilt of tomato, is considered to be one of the most important bacterial pathogens worldwide. In the year 2000 there was an increase in the number of infected greenhouses and in the severity of the disease in Israel. As part of the effort to cope with the disease, a comprehensive survey was conducted. Scouts recorded disease severity monthly in 681 production units. At the end of the season the scouts met with the growers and together recorded relevant details about the crop and cultural practices employed. The results suggested an absence of anisotropy pattern in the study region. Global Moran's I analysis showed that disease severity had significant spatial autocorrelation. The strongest spatial autocorrelation occurred within a 1,500 m neighborhood, which is comparable to the distance between production units maintained by one grower (Farm). Next, we tested three groups of variables including or excluding the Farm as a variable. When the Farm was included the explained variation increased in all the studied models. Overall, results of this study demonstrate that the most influential factor on bacterial canker severity was the Farm. This variable probably encompasses variation in experience, differences in agricultural practices between growers, and the quality of implementation of management practices. PMID:26623996

  9. Anesthetic management of a patient with sustained severe metabolic alkalosis and electrolyte abnormalities caused by ingestion of baking soda.

    PubMed

    Soliz, Jose; Lim, Jeffrey; Zheng, Gang

    2014-01-01

    The use of alternative medicine is prevalent worldwide. However, its effect on intraoperative anesthetic care is underreported. We report the anesthetic management of a patient who underwent an extensive head and neck cancer surgery and presented with a severe intraoperative metabolic alkalosis from the long term ingestion of baking soda and other herbal remedies. PMID:25180100

  10. Anesthetic Management of a Patient with Sustained Severe Metabolic Alkalosis and Electrolyte Abnormalities Caused by Ingestion of Baking Soda

    PubMed Central

    Lim, Jeffrey

    2014-01-01

    The use of alternative medicine is prevalent worldwide. However, its effect on intraoperative anesthetic care is underreported. We report the anesthetic management of a patient who underwent an extensive head and neck cancer surgery and presented with a severe intraoperative metabolic alkalosis from the long term ingestion of baking soda and other herbal remedies. PMID:25180100

  11. Impact of IL-8-251A/T gene polymorphism on severity of disease caused by enterovirus 71 infection.

    PubMed

    Xu, Daoyan; Li, Jian; Huang, Xiangjuan; Lin, Aiwei; Gai, Zhongtao; Chen, Zongbo

    2016-01-01

    The study was performed in EV71-infected patients, with 97 mild cases and 80 severe cases. IL-8251A/T genotypes were determined by the polymerase chain reaction restriction fragment length polymorphism technique. Severe cases had a significantly higher frequency of the IL8-251 AT and TT genotypes than mild cases (52.5 % vs. 49.5 % and 42.5 % vs. 30.9 %, respectively; p = 0.024). The frequency of IL-8-251T alleles among the severe cases was also significantly higher than that of mild cases (68.7 % vs. 55.7 %, OR = 1.8, 95 % CI = 1.1-2.7, p = 0.012). There were significant differences in gender, age, fever days, WBC, CRP and BG concentration, and IL-8 levels among genotypes of IL-8251A/T in EV71-infected patients, but there were no significant differences in ALT, AST, CK-MB and EV71 loads. These findings suggested that the IL-8-251T allele is associated with susceptibility to severe disease in Chinese patients infected with EV71. PMID:26497182

  12. [Personal experiences with extended frontolateral laryngectomy and simultaneous reconstruction using a cartilage/mucous membrane transplant from the nasal septum].

    PubMed

    Szmeja, Z; Szyfter, W; Wójtowicz, J; Kruk-Zagajewska, A

    1994-04-01

    From 1979 to 1992, 219 extended frontolateral laryngectomies were performed in Poznań with simultaneous reconstruction of the larynx using a mucochondral nasal septum flap. During following examinations local recurrences were observed in 7 cases and metastases to regional lymph nodes were found in 3 cases. Complete healing of the flap was seen in 172 patients. In these cases the laryngeal lumen was found to be wide and the transplanted mucosa was normal. In 14 patients there appeared to be partial rotation of the flap, narrowing the reconstructed lumen. Among the causes of failure were the use of a too flexible, thin septal cartilage and wound infection. Detailed acoustic recordings of postoperative voices are presented as examples of successful surgery. PMID:8021157

  13. Perceived causes of severe mental disturbance and preferred interventions by the Borana semi-nomadic population in southern Ethiopia: a qualitative study

    PubMed Central

    2012-01-01

    Background Culture affects the way people conceptualize causes of severe mental disturbance which may lead to a variation in the preferred intervention methods. There is a seemingly dichotomous belief regarding what causes severe mental disturbance: people living in western countries tend to focus mainly on biological and psychosocial risk factors; whereas, in non-western countries the focus is mainly on supernatural and religious factors. These belief systems about causation potentially dictate the type of intervention preferred. Studying such belief systems in any society is expected to help in planning and implementation of appropriate mental health services. Methods A qualitative study was conducted among the Borana semi-nomadic population in southern Ethiopia to explore perceived causes of severe mental disturbance and preferred interventions. We selected, using purposive sampling, key informants from three villages and conducted a total of six focus group discussions: three for males and three for females. Results The views expressed regarding the causes of mental disturbance were heterogeneous encompassing supernatural causes such as possession by evil spirits, curse, bewitchment, ‘exposure to wind’ and subsequent attack by evil spirit in postnatal women and biopsychosocial causes such as infections (malaria), loss, ‘thinking too much’, and alcohol and khat abuse. The preferred interventions for severe mental disturbance included mainly indigenous approaches, such as consulting Borana wise men or indigenous healers, prayer, holy water treatment and seeking modern mental health care as a last resort. Conclusions These findings will be of value for health care planners who wish to expand modern mental health care to this population, indicating the need to increase awareness about the causes of severe mental disturbance and their interventions and collaborate with influential people and indigenous healers to increase acceptability of modern mental

  14. Giant cardiac hydatid cyst in the interventricular septum protruding to right ventricular epicardium☆

    PubMed Central

    Besir, Yuksel; Gucu, Arif; Surer, Suleyman; Rodoplu, Orhan; Melek, Mehmet; Tetik, Omer

    2013-01-01

    Cardiac hydatid cyst is a rare condition, and the location of a hydatid cyst in the interventricular septum is exceptional. A 54-year-old female was admitted to our hospital with complaints of chest pain, shortness of breath and malaise. Transthoracic echocardiography defined a cystic mass lesion of 50 × 59 mm originating from apex of the heart protruding into and compressing the interventricular septum. The cyst was excised surgically and the patient was discharged on the 8th postoperative day without symptoms. In our case, localization of the cystic mass was within interventricular septum which is an uncommon site. It limited both ventricular volumes significantly. In addition, this cyst was extensively protruding to the right ventricular epicardium. PMID:23438618

  15. DC septum magnets for the damping rings of the SLC SLAC Linear Collider

    SciTech Connect

    Bijleveld, J.; Peterson, J.M.; Jensen, D.

    1986-07-01

    The injection/extraction systems of the 1.21 GeV Stanford Linear Collider (SLC) damping rings uses four pairs of water cooled septum magnets. Each pair consists of a thin-septum, low-field (3 mm, 3 kilogauss) magnet plus a thick-septum, high-field (12 mm, 8 kilogauss) model. In the latest design cooling reliability was improved by using stainless-steel tubing imbedded in the copper. The operating current in each is 2600 amperes, at a density of up to 120 amperes per mmS. Plasma-sprayed alumina is used to provide electrical insulation. The magnet system is compatible with 10 Z torr ultra-high vacuum. The magnet design, fabrication, and measurements are described.

  16. Upflow bioreactor having a septum and an auger and drive assembly

    DOEpatents

    Hansen, Carl S.; Hansen, Conly L.

    2007-11-06

    An upflow bioreactor includes a vessel having an inlet and an outlet configured for upflow operation. A septum is positioned within the vessel and defines a lower chamber and an upper chamber. The septum includes an aperture that provides fluid communication between the upper chamber and lower chamber. The bioreactor also includes an auger positioned in the aperture of the septum. The vessel includes an opening in the top for receiving the auger. The auger extends from a drive housing, which is position over the opening and provides a seal around the opening. The drive housing is adjustable relative to the vessel. The position of the auger in the aperture can be adjusted by adjusting the drive housing relative to the vessel. The auger adjustment mechanism allows the auger to be accurately positioned within the aperture. The drive housing can also include a fluid to provide an additional seal around the shaft of the auger.

  17. Laser reshaping of nasal septum cartilage: clinical results for 40 patients

    NASA Astrophysics Data System (ADS)

    Sobol, Emil N.; Sviridov, Alexander P.; Bagratashvili, Victor N.; Omelchenko, Alexander I.; Ovchinnikov, Yuriy M.; Shekhter, Anatoliy B.; Svistushkin, Valeriy M.; Shinaev, Alexander N.

    2000-05-01

    Clinical results on sparing laser reshaping of nasal septum cartilage are reported for the first time. Forty patients have been treated with holmium laser to correct a deformed cartilage. The laser reshaping is a bloodless, painless procedure which takes few minutes to straighten nasal septum. The stability of the new shape and possible side effects have been examined during twelve months. The headache and other negative symptoms have disappeared, as a result of laser treatment for the most of patients. Rhinoscopic examination show an excellent long-term reshaping effects for nasal septum of 23 patients, and, also, good results for other 12 patients. For 5 patients only a little effect takes place. Our rhinomanometric examinations demonstrate a pronounced improvement of the breathing for 35 patients. No visible undesirable side effects were observed for all patients underwent to laser reshaping procedure.

  18. A rare cause of severe diarrhoea diagnosed by urine metabolic screening: aromatic L-amino acid decarboxylase deficiency.

    PubMed

    Lee, L K; Cheung, K M; Cheng, W W; Ko, C H; Lee, Hencher H C; Ching, C K; Mak, Chloe M

    2014-04-01

    A 15-year-old Chinese male with infantile-onset hypotonia, developmental delay, ptosis, and oculogyric episodes presented with a history of chronic diarrhoea since the age of 5 years. At presentation, he had an exacerbation of diarrhoeal symptoms resulting in dehydration and malnutrition with a concurrent severe chest infection. In view of his infantile-onset hypotonia, oculogyric crises, and protracted diarrhoea, an autonomic disturbance related to neurotransmitters was suspected. Urine organic acid profiling was compatible with aromatic L-amino acid decarboxylase deficiency. The diagnosis was confirmed based on cerebrospinal fluid analysis and genetic mutation analysis. The patient was treated with a combination of bromocriptine, selegiline, and pyridoxine; a satisfactory reduction in diarrhoea ensued. Our report highlights the importance of urine organic acid screening in infantile-onset hypotonia, especially when accompanied by oculogyric crises, and severe diarrhoea which could manifest as a result of autonomic disturbance. PMID:24714172

  19. Novel α-spectrin mutation in trans with α-spectrin causing severe neonatal jaundice from hereditary spherocytosis.

    PubMed

    Nussenzveig, Roberto H; Christensen, Robert D; Prchal, Josef T; Yaish, Hassan M; Agarwal, Archana M

    2014-01-01

    We evaluated a neonate with severe jaundice but a negative family history. Spherocytes were present and suspected hereditary spherocytosis was confirmed by osmotic fragility and eosin-5-maleimide erythrocyte staining. We found he was a compound heterozygote for two pathogenic mutations in the gene encoding α-spectrin: a previously reported α(LEPRA) inherited from his asymptomatic mother, and a novel α-spectrin mutation in intron 45 +1 disrupting the consensus splice site, from his asymptomatic father. PMID:25277063

  20. Primary blast causes mild, moderate, severe and lethal TBI with increasing blast overpressures: Experimental rat injury model

    NASA Astrophysics Data System (ADS)

    Mishra, Vikas; Skotak, Maciej; Schuetz, Heather; Heller, Abi; Haorah, James; Chandra, Namas

    2016-06-01

    Injury severity in blast induced Traumatic Brain Injury (bTBI) increases with blast overpressure (BOP) and impulse in dose-dependent manner. Pure primary blast waves were simulated in compressed gas shock-tubes in discrete increments. Present work demonstrates 24 hour survival of rats in 0–450 kPa (0–800 Pa•s impulse) range at 10 discrete levels (60, 100, 130, 160, 190, 230, 250, 290, 350 and 420 kPa) and determines the mortality rate as a non-linear function of BOP. Using logistic regression model, predicted mortality rate (PMR) function was calculated, and used to establish TBI severities. We determined a BOP of 145 kPa as upper mild TBI threshold (5% PMR). Also we determined 146–220 kPa and 221–290 kPa levels as moderate and severe TBI based on 35%, and 70% PMR, respectively, while BOP above 290 kPa is lethal. Since there are no standards for animal bTBI injury severity, these thresholds need further refinements using histopathology, immunohistochemistry and behavior. Further, we specifically investigated mild TBI range (0–145 kPa) using physiological (heart rate), pathological (lung injury), immuno-histochemical (oxidative/nitrosative and blood-brain barrier markers) as well as blood borne biomarkers. With these additional data, we conclude that mild bTBI occurs in rats when the BOP is in the range of 85–145 kPa.

  1. Acquired multiple acyl-CoA dehydrogenase deficiency and marked selenium deficiency causing severe rhabdomyolysis in a horse

    PubMed Central

    Gomez, Diego E.; Valberg, Stephanie J.; Magdesian, K. Gary; Hanna, Paul E.; Lofstedt, Jeanne

    2015-01-01

    This report describes a case of severe rhabdomyolysis in a pregnant mare associated with histopathologic and biochemical features of both selenium deficiency and acquired multiple acyl-CoA dehydrogenase deficiency (MADD) due to seasonal pasture myopathy (SPM). This case highlights the importance of assessing plasma selenium levels in horses with clinical signs of pasture myopathy as this deficiency may be a contributing or exacerbating factor. PMID:26538673

  2. Primary blast causes mild, moderate, severe and lethal TBI with increasing blast overpressures: Experimental rat injury model.

    PubMed

    Mishra, Vikas; Skotak, Maciej; Schuetz, Heather; Heller, Abi; Haorah, James; Chandra, Namas

    2016-01-01

    Injury severity in blast induced Traumatic Brain Injury (bTBI) increases with blast overpressure (BOP) and impulse in dose-dependent manner. Pure primary blast waves were simulated in compressed gas shock-tubes in discrete increments. Present work demonstrates 24 hour survival of rats in 0-450 kPa (0-800 Pa∙s impulse) range at 10 discrete levels (60, 100, 130, 160, 190, 230, 250, 290, 350 and 420 kPa) and determines the mortality rate as a non-linear function of BOP. Using logistic regression model, predicted mortality rate (PMR) function was calculated, and used to establish TBI severities. We determined a BOP of 145 kPa as upper mild TBI threshold (5% PMR). Also we determined 146-220 kPa and 221-290 kPa levels as moderate and severe TBI based on 35%, and 70% PMR, respectively, while BOP above 290 kPa is lethal. Since there are no standards for animal bTBI injury severity, these thresholds need further refinements using histopathology, immunohistochemistry and behavior. Further, we specifically investigated mild TBI range (0-145 kPa) using physiological (heart rate), pathological (lung injury), immuno-histochemical (oxidative/nitrosative and blood-brain barrier markers) as well as blood borne biomarkers. With these additional data, we conclude that mild bTBI occurs in rats when the BOP is in the range of 85-145 kPa. PMID:27270403

  3. Primary blast causes mild, moderate, severe and lethal TBI with increasing blast overpressures: Experimental rat injury model

    PubMed Central

    Mishra, Vikas; Skotak, Maciej; Schuetz, Heather; Heller, Abi; Haorah, James; Chandra, Namas

    2016-01-01

    Injury severity in blast induced Traumatic Brain Injury (bTBI) increases with blast overpressure (BOP) and impulse in dose-dependent manner. Pure primary blast waves were simulated in compressed gas shock-tubes in discrete increments. Present work demonstrates 24 hour survival of rats in 0–450 kPa (0–800 Pa∙s impulse) range at 10 discrete levels (60, 100, 130, 160, 190, 230, 250, 290, 350 and 420 kPa) and determines the mortality rate as a non-linear function of BOP. Using logistic regression model, predicted mortality rate (PMR) function was calculated, and used to establish TBI severities. We determined a BOP of 145 kPa as upper mild TBI threshold (5% PMR). Also we determined 146–220 kPa and 221–290 kPa levels as moderate and severe TBI based on 35%, and 70% PMR, respectively, while BOP above 290 kPa is lethal. Since there are no standards for animal bTBI injury severity, these thresholds need further refinements using histopathology, immunohistochemistry and behavior. Further, we specifically investigated mild TBI range (0–145 kPa) using physiological (heart rate), pathological (lung injury), immuno-histochemical (oxidative/nitrosative and blood-brain barrier markers) as well as blood borne biomarkers. With these additional data, we conclude that mild bTBI occurs in rats when the BOP is in the range of 85–145 kPa. PMID:27270403

  4. Depletion of Phagocytic Cells during Nonlethal Plasmodium yoelii Infection Causes Severe Malaria Characterized by Acute Renal Failure in Mice.

    PubMed

    Terkawi, Mohamad Alaa; Nishimura, Maki; Furuoka, Hidefumi; Nishikawa, Yoshifumi

    2016-03-01

    In the current study, we examined the effects of depletion of phagocytes on the progression of Plasmodium yoelii 17XNL infection in mice. Strikingly, the depletion of phagocytic cells, including macrophages, with clodronate in the acute phase of infection significantly reduced peripheral parasitemia but increased mortality. Moribund mice displayed severe pathological damage, including coagulative necrosis in liver and thrombi in the glomeruli, fibrin deposition, and tubular necrosis in kidney. The severity of infection was coincident with the increased sequestration of parasitized erythrocytes, the systematic upregulation of inflammation and coagulation, and the disruption of endothelial integrity in the liver and kidney. Aspirin was administered to the mice to minimize the risk of excessive activation of the coagulation response and fibrin deposition in the renal tissue. Interestingly, treatment with aspirin reduced the parasite burden and pathological lesions in the renal tissue and improved survival of phagocyte-depleted mice. Our data imply that the depletion of phagocytic cells, including macrophages, in the acute phase of infection increases the severity of malarial infection, typified by multiorgan failure and high mortality. PMID:26755155

  5. A giant phyllodes tumor causing ulceration and severe breast disfigurement: case report and review of giant phyllodes

    PubMed Central

    Sbeih, Mohammed A.; Engdahl, Ryan; Landa, Marina; Ojutiku, Oreoluwa; Morrison, Norman; Depaz, Hector

    2015-01-01

    Phyllodes tumors are rare fibroepithelial tumors that account for <1% of the breast tumors in women. These tumors are often benign unilateral lesions of the female breast (70%). Less common are malignant phyllodes, which have the potential for hematogenous spread. Phyllodes tumors can be seen in all age groups, and the median age of presentation is 45 years. Surgery is the main form of treatment. Wide excisions with margins of 1cm are suggested. While smaller and moderate size phyllodes may typically be seen, gigantic ones are very rare. These may be seen in neglected tumors. By definition, a giant phyllodes tumor is one larger than 10 cm in diameter. We report a gigantic phyllodes tumor that grew over 7 years period causing significant ulceration and disfigurement and review features of these tumors and management. PMID:26703928

  6. A giant phyllodes tumor causing ulceration and severe breast disfigurement: case report and review of giant phyllodes.

    PubMed

    Sbeih, Mohammed A; Engdahl, Ryan; Landa, Marina; Ojutiku, Oreoluwa; Morrison, Norman; Depaz, Hector

    2015-01-01

    Phyllodes tumors are rare fibroepithelial tumors that account for <1% of the breast tumors in women. These tumors are often benign unilateral lesions of the female breast (70%). Less common are malignant phyllodes, which have the potential for hematogenous spread. Phyllodes tumors can be seen in all age groups, and the median age of presentation is 45 years. Surgery is the main form of treatment. Wide excisions with margins of 1cm are suggested. While smaller and moderate size phyllodes may typically be seen, gigantic ones are very rare. These may be seen in neglected tumors. By definition, a giant phyllodes tumor is one larger than 10 cm in diameter. We report a gigantic phyllodes tumor that grew over 7 years period causing significant ulceration and disfigurement and review features of these tumors and management. PMID:26703928

  7. Severe coagulation factor VII deficiency caused by a novel homozygous mutation (p. Trp284Gly) in loop 140s.

    PubMed

    Hao, Xiuping; Cheng, XiaoLi; Ye, Jiajia; Wang, Yingyu; Yang, LiHong; Wang, Mingshan; Jin, Yanhui

    2016-06-01

    Congenital coagulation factor VII (FVII) deficiency is a rare disorder caused by mutation in F7 gene. Herein, we reported a patient who had unexplained hematuria and vertigo with consanguineous parents. He has been diagnosed as having FVII deficiency based on the results of reduced FVII activity (2.0%) and antigen (12.8%). The thrombin generation tests verified that the proband has obstacles in producing thrombin. Direct sequencing analysis revealed a novel homozygous missense mutation p.Trp284Gly. Also noteworthy is the fact that the mutational residue belongs to structurally conserved loop 140s, which majorly undergo rearrangement after FVII activation. Model analysis indicated that the substitution disrupts these native hydrophobic interactions, which are of great importance to the conformation in the activation domain of FVIIa. PMID:26761581

  8. Thyroid hormone receptor α mutation causes a severe and thyroxine-resistant skeletal dysplasia in female mice.

    PubMed

    Bassett, J H Duncan; Boyde, Alan; Zikmund, Tomas; Evans, Holly; Croucher, Peter I; Zhu, Xuguang; Park, Jeong Won; Cheng, Sheue-yann; Williams, Graham R

    2014-09-01

    A new genetic disorder has been identified that results from mutation of THRA, encoding thyroid hormone receptor α1 (TRα1). Affected children have a high serum T3:T4 ratio and variable degrees of intellectual deficit and constipation but exhibit a consistently severe skeletal dysplasia. In an attempt to improve developmental delay and alleviate symptoms of hypothyroidism, patients are receiving varying doses and durations of T4 treatment, but responses have been inconsistent so far. Thra1(PV/+) mice express a similar potent dominant-negative mutant TRα1 to affected individuals, and thus represent an excellent disease model. We hypothesized that Thra1(PV/+) mice could be used to predict the skeletal outcome of human THRA mutations and determine whether prolonged treatment with a supraphysiological dose of T4 ameliorates the skeletal abnormalities. Adult female Thra1(PV/+) mice had short stature, grossly abnormal bone morphology but normal bone strength despite high bone mass. Although T4 treatment suppressed TSH secretion, it had no effect on skeletal maturation, linear growth, or bone mineralization, thus demonstrating profound tissue resistance to thyroid hormone. Despite this, prolonged T4 treatment abnormally increased bone stiffness and strength, suggesting the potential for detrimental consequences in the long term. Our studies establish that TRα1 has an essential role in the developing and adult skeleton and predict that patients with different THRA mutations will display variable responses to T4 treatment, which depend on the severity of the causative mutation. PMID:24914936

  9. Implementing hospital-based surveillance for severe acute respiratory infections caused by influenza and other respiratory pathogens in New Zealand

    PubMed Central

    Baker, Michael; McArthur, Colin; Roberts, Sally; Williamson, Deborah; Grant, Cameron; Trenholme, Adrian; Wong, Conroy; Taylor, Susan; LeComte, Lyndsay; Mackereth, Graham; Bandaranayake, Don; Wood, Tim; Bissielo, Ange; Se, Ruth; Turner, Nikki; Pierse, Nevil; Thomas, Paul; Webby, Richard; Gross, Diane; Duque, Jazmin; Thompson, Mark; Widdowson, Marc-Alain

    2014-01-01

    Background Recent experience with pandemic influenza A(H1N1)pdm09 highlighted the importance of global surveillance for severe respiratory disease to support pandemic preparedness and seasonal influenza control. Improved surveillance in the southern hemisphere is needed to provide critical data on influenza epidemiology, disease burden, circulating strains and effectiveness of influenza prevention and control measures. Hospital-based surveillance for severe acute respiratory infection (SARI) cases was established in New Zealand on 30 April 2012. The aims were to measure incidence, prevalence, risk factors, clinical spectrum and outcomes for SARI and associated influenza and other respiratory pathogen cases as well as to understand influenza contribution to patients not meeting SARI case definition. Methods/Design All inpatients with suspected respiratory infections who were admitted overnight to the study hospitals were screened daily. If a patient met the World Health Organization’s SARI case definition, a respiratory specimen was tested for influenza and other respiratory pathogens. A case report form captured demographics, history of presenting illness, co-morbidities, disease course and outcome and risk factors. These data were supplemented from electronic clinical records and other linked data sources. Discussion Hospital-based SARI surveillance has been implemented and is fully functioning in New Zealand. Active, prospective, continuous, hospital-based SARI surveillance is useful in supporting pandemic preparedness for emerging influenza A(H7N9) virus infections and seasonal influenza prevention and control. PMID:25077034

  10. Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2

    SciTech Connect

    Wang, Mei; Godfrey, M.; Clericuzio, C.L.

    1996-11-01

    Genetic linkage studies have linked congenital contractual arachnodactyly (CCA), a usually mild heritable connective-tissue disorder, to FBN2, the fibrillin gene on chromosome 5. Recently, FBN2 mutations in two patients with CCA have been described. Here we report an A{r_arrow}T transversion at the -2 position of the consensus acceptor splice site, resulting in the missplicing of exon 34, a calcium-binding epidermal growth factor-like repeat in fibrillin-2 in a mother and daughter with CCA. Significantly, the mother exhibited a classic CCA phenotype with arachnodactyly, joint contractures, and abnormal pinnae, whereas her daughter exhibited a markedly more severe CCA phenotype, which included cardiovascular and gastrointestinal anomalies that led to death in infancy. Analysis of cloned fibroblasts showed that the mother is a somatic mosaic for the exon 34 missplicing mutation, whereas all the daughter`s cells harbored the mutation. 48 refs., 6 figs., 2 tabs.

  11. A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family.

    PubMed

    Behlouli, Asma; Bonnet, Crystel; Abdi, Samia; Hasbellaoui, Mokhtar; Boudjenah, Farid; Hardelin, Jean-Pierre; Louha, Malek; Makrelouf, Mohamed; Ammar-Khodja, Fatima; Zenati, Akila; Petit, Christine

    2016-08-01

    Congenital deafness is certainly one of the most common monogenic diseases in humans, but it is also one of the most genetically heterogeneous, which makes molecular diagnosis challenging in most cases. Whole-exome sequencing in two out of three Algerian siblings affected by recessively-inherited, moderate to severe sensorineural deafness allowed us to identify a novel splice donor site mutation (c.5272+1G > A) in the gene encoding α-tectorin, a major component of the cochlear tectorial membrane. The mutation was present at the homozygous state in the three affected siblings, and at the heterozygous state in their unaffected, consanguineous parents. To our knowledge, this is the first reported TECTA mutation leading to the DFNB21 form of hearing impairment among Maghrebian individuals suffering from congenital hearing impairment, which further illustrates the diversity of the genes involved in congenital deafness in the Maghreb. PMID:27368438

  12. Increasing severity of damage caused by floods in the Spanish Mediterranean coast (1960-2014), climate change or vulnerability?

    NASA Astrophysics Data System (ADS)

    Perez, Alfredo; Gil, Salvador; Lopez, Francisco; Barriendos, Mariano

    2016-04-01

    In recent decades, there has been an increase in physical and economic losses (WMO, CRED and UCL, 2014) that raises serious concerns in society. Climate change projections may explain the rise in flood losses; however, these shouldn't be considered yet (Bouwer, 2011). According to IPCC (2014), there is low confidence in anthropogenic climate change affecting the frequency and magnitude of fluvial floods on a global scale. In other words, this increase in flood events is not completely related to the higher frequency of heavy rainfall. To illustrate the aforementioned, a spatial example can be seen in the study area. In the Spanish Mediterranean coast, we see an increase in economic losses within the last 50 years due to flood events (Gil et al., 2014). It seems that the socio-economic growth and the rise of housing construction (Gaja, 2008) have led to an increase in vulnerability and exposure which are mainly responsible for those losses and the increase in severity of flood events (Pérez et al., 2015). Furthermore, this situation will probably become more precarious if some climate forecasts are met [IPCC, 2014; AEMET, 2015], and if the economic model fails to adopt efficient adaptive measures. Therefore, it is interesting to focus attention on social factors either within the present or future scenario in order to minimise the potential consequences and improve the adaptation. The main objective of this work focuses on the study of the evolution of the severity of the floods in the Spanish Mediterranean coast for the period (1960-2015). To do that, a statistical analysis of the data base [Gil et al., 2014; extended to the entire Spanish Mediterranean coast (MEDIFLOOD)] and a multiscale mapping (local, provincial and regional level) of the frequency of these events will take place in order to make comparisons and show spatiotemporal patterns according to the severity events evolution. Preliminary results show some interesting statistically significant

  13. Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

    PubMed Central

    Whibley, Annabel; Urquhart, Jill; Dore, Jonathan; Willatt, Lionel; Parkin, Georgina; Gaunt, Lorraine; Black, Graeme; Donnai, Dian; Raymond, F Lucy

    2010-01-01

    Monoamine oxidases (MAO-A and MAO-B) have a key role in the degradation of amine neurotransmitters, such as dopamine, norepinephrine and serotonin. We identified an inherited 240 kb deletion on Xp11.3–p11.4, which encompasses both monoamine oxidase genes but, unlike other published reports, does not affect the adjacent Norrie disease gene (NDP). The brothers who inherited the deletion, and thus have no monoamine oxidase function, presented with severe developmental delay, intermittent hypotonia and stereotypical hand movements. The clinical features accord with published reports of larger microdeletions and selective MAO-A and MAO-B deficiencies in humans and mouse models and suggest considerable functional compensation between MAO-A and MAO-B under normal conditions. PMID:20485326

  14. A new type of lesion associated with severe fur damage in Canadian ranch foxes and an investigation of possible causes.

    PubMed Central

    Hardy, M H; Tackaberry, L E; Goldberg, M T

    1991-01-01

    In the silver fox, as in its wild ancestor, the red fox (Vulpes vulpes L.), the annual growing phase (anagen) of guard hair follicles occupies at least four months. Severe damage to the hair coat near the end of this growing period was reported in 1985 on many ranches in New Brunswick and Nova Scotia. A histological analysis of serial sections of skin biopsies showed a marked increase in nuclear aberrations in the hair matrix of anagen guard hair follicles. These nuclear aberrations indicated that cells were undergoing apoptosis, a controlled form of cell death. Tissues from affected and unaffected foxes for histological and toxicological analysis, as well as other data, were obtained during visits to 26 ranches in 1986 and 34 ranches in 1987. Histological sections of the 1987 skin samples showed the mean percentage of nuclear aberrations in 43 unaffected foxes to be 0.08 +/- 0.01 (SEM), while that for 49 affected foxes was 0.51 +/- 0.23. The four foxes with the most severe coat damage also had the highest incidences of guard hair matrix cells with nuclear aberrations, ranging from 20 to 100 times greater than the mean for unaffected foxes. The mitotic index of the hair matrix, which normally remains fairly constant during the hair growth phase, was similar for unaffected and affected foxes (1.83 +/- 0.06 and 1.97 +/- 0.07 respectively). Although our analyses of field data have not established a specific environmental factor associated with increased nuclear aberrations, the possible involvement of toxic agents in follicle damage may warrant further investigation. Images Fig. 1. Fig. 3. PMID:1884287

  15. Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family.

    PubMed

    Liu, Ying; Yu, Xiaoyan; Wang, Lei; Li, Chang; Archacki, Stephen; Huang, Changzheng; Liu, Jing Yu; Wang, Qing; Liu, Mugen; Tang, Zhaohui

    2012-01-10

    X-linked recessive hypohidrotic ectodermal dysplasia (XLHED) is characterized by the defective morphogenesis of teeth, hair, and eccrine sweat glands. It is associated with mutations in the EDA gene. Up to now, more than 100 mutations in the EDA gene have been reported to cause XLHED. The product of EDA gene is a trimeric type II transmembrane protein that belongs to the tumor necrosis factor (TNF) family of ligands. In this study, we identified a Chinese family with XLHED. Direct DNA sequencing of the whole coding region of EDA revealed a novel missense mutation, p.Leu354Pro in a patient affected with XLHED. This mutation was not found in either unaffected male individuals of the family or 168 normal controls. The substitution of Leu354 with Pro was found to be located in the TNF-like domain of EDA and may influence the epithelial signaling pathway required for the normal ectodermal development through altering the topology of EDA. Our finding broadens the spectrum of EDA mutations and may help to understand the molecular basis of XLHED and aid genetic counseling. PMID:22008666

  16. Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay

    PubMed Central

    Al-Sayed, Moeenaldeen D.; Al-Zaidan, Hamad; Albakheet, AlBandary; Hakami, Hana; Kenana, Rosan; Al-Yafee, Yusra; Al-Dosary, Mazhor; Qari, Alya; Al-Sheddi, Tarfa; Al-Muheiza, Muhammed; Al-Qubbaj, Wafa; Lakmache, Yamina; Al-Hindi, Hindi; Ghaziuddin, Muhammad; Colak, Dilek; Kaya, Namik

    2013-01-01

    Sodium leak channel, nonselective (NALCN) is a voltage-independent and cation-nonselective channel that is mainly responsible for the leaky sodium transport across neuronal membranes and controls neuronal excitability. Although NALCN variants have been conflictingly reported to be in linkage disequilibrium with schizophrenia and bipolar disorder, to our knowledge, no mutations have been reported to date for any inherited disorders. Using linkage, SNP-based homozygosity mapping, targeted sequencing, and confirmatory exome sequencing, we identified two mutations, one missense and one nonsense, in NALCN in two unrelated families. The mutations cause an autosomal-recessive syndrome characterized by subtle facial dysmorphism, variable degrees of hypotonia, speech impairment, chronic constipation, and intellectual disability. Furthermore, one of the families pursued preimplantation genetic diagnosis on the basis of the results from this study, and the mother recently delivered healthy twins, a boy and a girl, with no symptoms of hypotonia, which was present in all the affected children at birth. Hence, the two families we describe here represent instances of loss of function in human NALCN. PMID:24075186

  17. Role of lateral septum glucagon-like peptide 1 receptors in food intake.

    PubMed

    Terrill, Sarah J; Jackson, Christine M; Greene, Hayden E; Lilly, Nicole; Maske, Calyn B; Vallejo, Samantha; Williams, Diana L

    2016-07-01

    Hindbrain glucagon-like peptide 1 (GLP-1) neurons project to numerous forebrain areas, including the lateral septum (LS). Using a fluorescently labeled GLP-1 receptor (GLP-1R) agonist, Exendin 4 (Ex4), we demonstrated GLP-1 receptor binding throughout the rat LS. We examined the feeding effects of Ex4 and the GLP-1R antagonist Exendin (9-39) (Ex9) at doses subthreshold for effect when delivered to the lateral ventricle. Intra-LS Ex4 suppressed overnight chow and high-fat diet (HFD) intake, and Ex9 increased chow and HFD intake relative to vehicle. During 2-h tests, intra-LS Ex9 significantly increased 0.25 M sucrose and 4% corn oil. Ex4 can cause nausea, but intra-LS administration of Ex4 did not induce pica. Furthermore, intra-LS Ex4 had no effect on anxiety-like behavior in the elevated plus maze. We investigated the role of LS GLP-1R in motivation for food by examining operant responding for sucrose on a progressive ratio (PR) schedule, with and without a nutrient preload to maximize GLP-1 neuron activation. The preload strongly suppressed PR responding, but blockade of GLP-1R in the intermediate subdivision of the LS did not affect motivation for sucrose under either load condition. The ability of the nutrient load to suppress subsequent chow intake was significantly attenuated by intermediate LS Ex9 treatment. By contrast, blockade of GLP-1R in the dorsal subdivision of the LS increased both PR responding and overnight chow intake. Together, these studies suggest that endogenous activity of GLP-1R in the LS influence feeding, and dLS GLP-1Rs, in particular, play a role in motivation. PMID:27194565

  18. Oak forest exploitation and black-locust invasion caused severe shifts in epiphytic lichen communities in Northern Italy.

    PubMed

    Nascimbene, Juri; Marini, Lorenzo

    2010-10-15

    In the last two centuries, native European oak forests have undergone a dramatic decline related to increasing human pressure for agriculture and urbanization. Oak forests were either completely eradicated and transformed into agricultural landscapes or replaced by second-growth formations. Intensive forest management and the replacement of native forests with production forests or arable lands are recognized amongst the main threats to many lichens in Europe. In this study, we used historical information on the epiphytic lichen biota which was hosted in a native oak-dominated forest of Northern Italy to identify shifts of lichen communities due to the changes in land use which occurred during the last two centuries. We also compared the epiphytic lichen communities inhabiting remnant oak forests with those found in the habitats that have replaced native forests: black-locust forests and agrarian landscapes. Almost all the species sampled during the 19th century are now extinct. The loss of native habitat and the subsequent invasion by black locust were probably the most influential factors which affected the composition of lichen communities, causing the local extinction of most of the species historically recorded. Despite the fact that oak remnants host only a few species which were historically recorded, and that they currently are the lichen poorest habitat in the study region, they host lichen assemblages differing from those of black-locust forests and agrarian stands. In these habitats lichen assemblages are mainly composed of species adapted to well-lit, dry conditions and tolerating air pollution and eutrophication. This pattern is likely to be common also in other lowland and hilly regions throughout Northern Italy where oak forests are targeted among the habitats of conservation concern at the European level. For this reason, a national strategy for biodiversity conservation and monitoring of lowlands forests should provide the framework for local

  19. Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.

    PubMed

    Shaheen, Ranad; Hashem, Amal; Abdel-Salam, Ghada M H; Al-Fadhli, Fatima; Ewida, Nour; Alkuraya, Fowzan S

    2016-10-01

    Primary microcephaly is a clinical phenotype in which the head circumference is significantly reduced at birth due to abnormal brain development, primarily at the cortical level. Despite the marked genetic heterogeneity, most primary microcephaly-linked genes converge on mitosis regulation. Two consanguineous families segregating the phenotype of severe primary microcephaly, spasticity and failure to thrive had overlapping autozygomes in which exome sequencing identified homozygous splicing variants in CIT that segregate with the phenotype within each family. CIT encodes citron, an effector of the Rho signaling that is required for cytokinesis specifically in proliferating neuroprogenitors, as well as for postnatal brain development. In agreement with the critical role assigned to the kinase domain in effecting these biological roles, we show that both splicing variants predict variable disruption of this domain. The striking phenotypic overlap between CIT-mutated individuals and the knockout mice and rats that are specifically deficient in the kinase domain supports the proposed causal link between CIT mutation and primary microcephaly in humans. PMID:27503289

  20. Severe vitamin D deficiency in a case of primary hyperparathyroidism caused by parathyroid lipoadenoma, effect of 25OHD3 treatment.

    PubMed

    Coen, G; Bondatti, F; de Matteis, A; Ballanti, P; Mazzaferro, S; Sardella, D; Smacchi, A

    1989-01-01

    This report describes the case of a 60-year-old woman with severe metabolic bone disease and fractures due to vitamin D deficiency and hyperparathyroidism. 25OHDH3 and 1,25(OH)2D3 serum levels were undetectable and increased immediately following 25OHD3 oral administration. Serum 1,25(OH)2D3 following vitamin D repletion reached values above the normal range, and remained elevated with strict dependence on the serum 25OHD3 levels. Parathyroid hormone and alkaline phosphatase decreased during treatment, without reaching normality during 1 year of observation. Bone biopsies before and after 8-month 25OHD3 treatment showed disappearance of the osteomalacic and hyperparathyroid lesions. During treatment an increase in serum and urine calcium and formation of renal stones were observed. The patient underwent neck exploration with the finding and removal of a lipoadenoma, a rare parathyroid tumor, followed by complete and permanent remission of the disease. In conclusion, this case is suggestive of the key role played by the long-term vitamin D status in the clinical expression of primary hyperparathyroidism. PMID:2615720

  1. Lipoxin Inhibits Fungal Uptake by Macrophages and Reduces the Severity of Acute Pulmonary Infection Caused by Paracoccidioides brasiliensis

    PubMed Central

    Ribeiro, Laura R. R.; Loures, Flávio V.; de Araújo, Eliseu F.; Feriotti, Cláudia; Costa, Tânia A.; Serezani, Carlos Henrique; Jancar, Sonia; Calich, Vera L. G.

    2015-01-01

    Cysteinyl leukotrienes (CysLTs) and lipoxins (LXs) are lipid mediators that control inflammation, with the former inducing and the latter inhibiting this process. Because the role played by these mediators in paracoccidioidomycosis was not investigated, we aimed to characterize the role of CysLT in the pulmonary infection developed by resistant (A/J) and susceptible (B10.A) mice. 48 h after infection, elevated levels of pulmonary LTC4 and LXA4 were produced by both mouse strains, but higher levels were found in the lungs of susceptible mice. Blocking the CysLTs receptor by MTL reduced fungal loads in B10.A, but not in A/J mice. In susceptible mice, MLT treatment led to reduced influx of PMN leukocytes, increased recruitment of monocytes, predominant synthesis of anti-inflammatory cytokines, and augmented expression of 5- and 15-lipoxygenase mRNA, suggesting a prevalent LXA4 activity. In agreement, MTL-treated macrophages showed reduced fungal burdens associated with decreased ingestion of fungal cells. Furthermore, the addition of exogenous LX reduced, and the specific blockade of the LX receptor increased the fungal loads of B10.A macrophages. This study showed for the first time that inhibition of CysLTs signaling results in less severe pulmonary paracoccidioidomycosis that occurs in parallel with elevated LX activity and reduced infection of macrophages. PMID:26635449

  2. Severe postoperative dyspnea caused by neglected massive intraperitoneal fluid collection during laser enucleation and morcellation of the prostate: a case report

    PubMed Central

    Kim, Sung-Hoon; Son, Hyo-Jung; Kim, Jae-Won; Kong, Yu-Gyeong; Hwang, Jai-Hyun

    2016-01-01

    Laser enucleation and morcellation of the prostate is an increasingly used surgical management of benign prostatic hyperplasia. However, it can cause several complications including capsular perforation, ureteral orifice injury, and bladder mucosal morcellation injury. Herein, we report a case of severe postoperative dyspnea caused by neglected massive intraperitoneal fluid collection during laser surgery of the prostate. The patient experienced massive abdominal distension and severe respiratory difficulty after the procedure. Although immediate postoperative cystogram showed no leakage of contrast dye, the computed tomography scan of the abdomen and pelvis showed massive fluid collection in the abdominal pelvic cavity suggesting bladder wall injury. After percutaneous drainage of intraperitoneal fluid, abdominal distention and dyspnea were relieved. PMID:27066210

  3. Formation of the central canal and dorsal glial septum in the spinal cord of the domestic cat.

    PubMed Central

    Böhme, G

    1988-01-01

    Development of the neural tube results in a relative reduction of its lumen accompanied by an increasing thickness of its wall. The central canal measures only about one fifth of that of the former neural canal. This has been said to be the result of an obliteration or fusion of a part of the lumen. This transformation of the central canal takes place between fetal days 28 and 34 in the cat and is characterised by an elongation and shifting of the dorsal ependymal matrix cells and by an apposition of the lateral walls in the same region. It is suggested that the increase in size of the dorsal funiculi causes the elongation of the ependymal cells, the basal processes of which remain to form the dorsal glial septum. The proliferation of neurons and the resultant growth of the dorsal grey horns is believed to be responsible for the narrowing of the lumen. The lumen-contacting matrix cells are displaced from the former surface. These 'blast' cells develop into neurons or glial cells. Until two or three months after birth there is a small wedge-shaped area in the dorsal wall of the central canal which consists of fetal matrix cells with long tapering basal processes extending into the glial septum. After this date the matrix is exhausted and the ependyma forms the complete lining of the surface of the central canal. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 Fig. 7 Fig. 8 Fig. 9 Fig. 11 Fig. 12 PMID:3248971

  4. Bacteremic Urinary Tract Infection Caused by Multidrug-Resistant Enterobacteriaceae Are Associated With Severe Sepsis at Admission: Implication for Empirical Therapy.

    PubMed

    Lee, Yi-Chien; Hsiao, Chih-Yen; Hung, Miao-Chiu; Hung, Sheng-Che; Wang, Hung-Ping; Huang, Yun-Jhong; Wang, Jann-Tay

    2016-05-01

    The purpose of this study is to compare the clinical features and treatment outcomes among patients with bacteremic urinary tract infection (UTI) caused by multidrug-resistant (MDR) and non-MDR Enterobacteriaceae and to identify whether MDR pathogens were independently associated with severe sepsis or septic shock at presentation.The clinical data of adult patients visiting and being treated at Chia-Yi Christian Hospital due to bacteremic UTI caused by Enterobacteriaceae from January 2006 to August 2015 were retrospectively analyzed.A total of 585 patients were enrolled. Among them, 220 (37.6%) were caused by the MDR Enterobacteriaceae. A total of 206 patients (35.2%) developed severe sepsis or septic shock at presentation. Patients in the MDR group tend to be male and have a past history of gout, recurrent UTI, prior hospitalization, hydronephrosis, renal stone, ureteral stone, indwelling urinary catheter, newly development of renal dysfunction, severe sepsis or septic shock, intensive care unit (ICU) admission, receipt of ineffective empirical therapy, longer hospital stay, and higher in-hospital mortality (2.7% vs 1.9%, P = 0.569). Using multivariate logistic regression analysis, it is revealed that independent predictors associated with severe sepsis or septic shock at presentation were liver cirrhosis (OR 2.868; 95% CI 1.439-5.716; P = 0.003), indwelling urinary catheter (OR 1.936; 95% CI 1.238-3.027; P = 0.004), and MDR Enterobacteriaceae (OR 1.447; 95% CI 1.002-2.090; P = 0.049).Multidrug resistance was associated with the development of severe sepsis or septic shock upon presentation among patients with bacteremic UTI caused by Enterobacteriaceae. Therefore, empirical antibiotics therapy for patients with UTI presented with severe sepsis and/or septic shock should be more broad-spectrum to effectively cover MDR Enterobacteriaceae. PMID:27196480

  5. Phylogenetic evidence for intratypic recombinant events in a novel human adenovirus C that causes severe acute respiratory infection in children

    PubMed Central

    Wang, Yanqun; Li, Yamin; Lu, Roujian; Zhao, Yanjie; Xie, Zhengde; Shen, Jun; Tan, Wenjie

    2016-01-01

    Human adenoviruses (HAdVs) are prevalent in hospitalized children with severe acute respiratory infection (SARI). Here, we report a unique recombinant HAdV strain (CBJ113) isolated from a HAdV-positive child with SARI. The whole-genome sequence was determined using Sanger sequencing and high-throughput sequencing. A phylogenetic analysis of the complete genome indicated that the CBJ113 strain shares a common origin with HAdV-C2, HAdV-C6, HAdV-C1, HAdV-C5, and HAdV-C57 and formed a novel subclade on the same branch as other HAdV-C subtypes. BootScan and single nucleotide polymorphism analyses showed that the CBJ113 genome has an intra-subtype recombinant structure and comprises gene regions mainly originating from two circulating viral strains: HAdV-1 and HAdV-2. The parental penton base, pVI, and DBP genes of the recombinant strain clustered with the HAdV-1 prototype strain, and the E1B, hexon, fiber, and 100 K genes of the recombinant clustered within the HAdV-2 subtype, meanwhile the E4orf1 and DNA polymerase genes of the recombinant shared the greatest similarity with those of HAdV-5 and HAdV-6, respectively. All of these findings provide insight into our understanding of the dynamics of the complexity of the HAdV-C epidemic. More extensive studies should address the pathogenicity and clinical characteristics of the novel recombinant. PMID:26960434

  6. Phylogenetic evidence for intratypic recombinant events in a novel human adenovirus C that causes severe acute respiratory infection in children.

    PubMed

    Wang, Yanqun; Li, Yamin; Lu, Roujian; Zhao, Yanjie; Xie, Zhengde; Shen, Jun; Tan, Wenjie

    2016-01-01

    Human adenoviruses (HAdVs) are prevalent in hospitalized children with severe acute respiratory infection (SARI). Here, we report a unique recombinant HAdV strain (CBJ113) isolated from a HAdV-positive child with SARI. The whole-genome sequence was determined using Sanger sequencing and high-throughput sequencing. A phylogenetic analysis of the complete genome indicated that the CBJ113 strain shares a common origin with HAdV-C2, HAdV-C6, HAdV-C1, HAdV-C5, and HAdV-C57 and formed a novel subclade on the same branch as other HAdV-C subtypes. BootScan and single nucleotide polymorphism analyses showed that the CBJ113 genome has an intra-subtype recombinant structure and comprises gene regions mainly originating from two circulating viral strains: HAdV-1 and HAdV-2. The parental penton base, pVI, and DBP genes of the recombinant strain clustered with the HAdV-1 prototype strain, and the E1B, hexon, fiber, and 100 K genes of the recombinant clustered within the HAdV-2 subtype, meanwhile the E4orf1 and DNA polymerase genes of the recombinant shared the greatest similarity with those of HAdV-5 and HAdV-6, respectively. All of these findings provide insight into our understanding of the dynamics of the complexity of the HAdV-C epidemic. More extensive studies should address the pathogenicity and clinical characteristics of the novel recombinant. PMID:26960434

  7. Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.

    PubMed

    Weis, M A; Wilkin, D J; Kim, H J; Wilcox, W R; Lachman, R S; Rimoin, D L; Cohn, D H; Eyre, D R

    1998-02-20

    Type II collagen mutations have been identified in a phenotypic continuum of chondrodysplasias that range widely in clinical severity. They include achondrogenesis type II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita, spondyloepimetaphyseal dysplasia, Kniest dysplasia, and Stickler syndrome. We report here results that define the underlying genetic defect and consequent altered structure of assembled type II collagen in a neonatal lethal form of Kniest dysplasia. Electrophoresis of a cyanogen bromide (CNBr) (CB) digest of sternal cartilage revealed an alpha1(II)CB11 peptide doublet and a slightly retarded mobility for all major CB peptides, which implied post-translational overmodification. Further peptide mapping and sequence analysis of CB11 revealed equal amounts of a normal alpha1(II) sequence and a chain lacking the 18 residues (361-378 of the triple helical domain) corresponding to exon 24. Sequence analysis of an amplified genomic DNA fragment identified a G to A transition in the +5 position of the splice donor consensus sequence of intron 24 in one allele. Cartilage matrix analysis showed that the short alpha1(II) chain was present in collagen molecules that had become cross-linked into fibrils. Trypsin digestion of the pepsin-extracted native type II collagen selectively cleaved the normal length alpha1(II) chains within the exon 24 domain. These findings support a hypothesis that normal and short alpha-chains had combined to form heterotrimeric molecules in which the chains were in register in both directions from the deletion site, accommodated effectively by a loop out of the normal chain exon 24 domain. Such an accommodation, with potential overall shortening of the helical domain and hence misalignment of intermolecular relationships within fibrils, offers a common molecular mechanism by which a group of different mutations might act to produce the Kniest phenotype. PMID:9468540

  8. Mycoplasma ovipneumoniae--a primary cause of severe pneumonia epizootics in the Norwegian Muskox (Ovibos moschatus) population.

    PubMed

    Handeland, Kjell; Tengs, Torstein; Kokotovic, Branko; Vikøren, Turid; Ayling, Roger D; Bergsjø, Bjarne; Sigurðardóttir, Olöf G; Bretten, Tord

    2014-01-01

    The Norwegian muskox (Ovibos moschatus) population lives on the high mountain plateau of Dovre and originates from animals introduced from Greenland. In the late summers of 2006 and 2012, severe outbreaks of pneumonia with mortality rates of 25-30% occurred. During the 2012 epidemic high quality samples from culled sick animals were obtained for microbiological and pathological examinations. High throughput sequencing (pyrosequencing) of pneumonic lung tissue revealed high concentrations of Mycoplasma ovipneumoniae in all six animals examined by this method and Pasteurella multocida subsp. multocida in four animals, whereas no virus sequences could be identified. Mycoplasma ovipneumoniae and P. multocida multocida were also isolated by culture. Using real time PCR on lung swabs, M. ovipneumoniae was detected in all of the 19 pneumonic lungs examined. Gross pathological examination revealed heavy consolidations primarily in the cranial parts of the lungs and it also identified one case of otitis media. Histologically, lung lesions were characterized as acute to subacute mixed exudative and moderately proliferative bronchoalveolar pneumonia. Immunohistochemical (IHC) examination revealed high load of M. ovipneumoniae antigens within lung lesions, with particularly intensive staining in the neutrophils. Similar IHC finding were observed in archived lung tissue blocks from animals examined during the 2006 epidemic. An M. ovipneumoniae specific ELISA was applied on bio-banked muskox sera from stray muskoxen killed in the period 2004-2013 and sick muskoxen culled, as well as sera from wild reindeer (Rangifer tarandus tarandus) on Dovre and muskoxen from Greenland. Serology and mycoplasma culturing was also carried out on sheep that had been on pasture in the muskox area during the outbreak in 2012. Our findings indicated separate introductions of M. ovipneumoniae infection in 2006 and 2012 from infected co-grazing sheep. Salt licks shared by the two species were a

  9. Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism.

    PubMed

    Tristán-Noguero, Alba; Díez, Héctor; Jou, Cristina; Pineda, Mercè; Ormazábal, Aida; Sánchez, Aurora; Artuch, Rafael; Garcia-Cazorla, Àngels

    2016-06-01

    Tyrosine hydroxylase (TH) deficiency is an inborn error of dopamine synthesis. Two clinical phenotypes have been described. The THD "B" phenotype produces a severe encephalopathy of early-onset with sub-optimal L-Dopa response, whereas the "A" phenotype has a better L-Dopa response and outcome. The objective of the study is to describe the expression of key synaptic proteins and neurodevelopmental markers in a fetal brain of THD "B" phenotype. The brain of a 16-week-old miscarried human fetus was dissected in different brain areas and frozen until the analysis. TH gene study revealed the p.R328W/p.T399M mutations, the same mutations that produced a B phenotype in her sister. After protein extraction, western blot analyses were performed to assess protein expression. The results were compared to an age-matched control. We observed a decreased expression in TH and in other dopaminergic proteins, such as VMAT 1 and 2 and dopamine receptors, especially D2DR. GABAergic and glutamatergic proteins such as GABA VT, NMDAR1 and calbindin were also altered. Developmental markers for synapses, axons and dendrites were decreased whereas markers of neuronal volume were preserved. Although this is an isolated case, this brain sample is unique and corresponds to the first reported study of a THD brain. It provides interesting information about the influence of dopamine as a regulator of other neurotransmitter systems, brain development and movement disorders with origin at the embryological state. This study could also contribute to a better understanding of the pathophysiology of THD at early fetal stages. PMID:26686676

  10. A Homozygous B3GAT3 Mutation Causes a Severe Syndrome with Multiple Fractures, Extending the Number of Linkeropathy Syndromes

    PubMed Central

    Jones, Kelly L.; Schwarze, Ulrike; Adam, Margaret P.; Byers, Peter H.; Mefford, Heather C.

    2015-01-01

    Linkeropathies are a group of syndromes characterized by short stature, radio-ulnar synostosis, decreased bone density, congenital contractures and dislocations, joint laxity, broad digits, brachycephaly, small mouth, prominent eyes, short or webbed neck, congenital heart defects and mild developmental delay. Linkeropathies are due to enzymatic defects in the synthesis of the common linker region that joins the core proteins to their glycosaminoglycan side chains. The enzyme glucuronyltransferase 1, encoded by B3GAT3, adds the last of the four saccharides that comprise the linker region. Mutations in B3GAT3 have been reported in two unrelated families with the same homozygous mutation (c.830G>A, p.Arg277Gln). We report a patient with a novel homozygous B3GAT3 (c.667G>A, p.Gly223Ser) mutation and a history of multiple fractures, blue sclerae, and glaucoma. Our patient is a 12 month old boy born to consanguineous parents and, like previously reported patients, he has bilateral radio-ulnar synostosis, severe osteopenia, an increased gap between first and second toes, bilateral club feet, and atrial and ventricular septal defects. He also the additional features of bilateral glaucoma, hypertelorism, upturned nose with anteverted nares, a small chest, a diaphragmatic hernia, multiple fractures, arachnodactyly, overlapping fingers with ulnar deviation, lymphedema, hypotonia, hearing loss, and perinatal cerebral infarction with bilateral supra- and infratentorial subdural hematomas. We provide a clinical report to highlight the extended phenotypic range of B3GAT3 mutations and a comparative overview of the phenotypic features of the linkeropathies associated with mutations in XYLT1, B4GALT7, B3GALT6, and B3GAT3. PMID:26086840

  11. A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability.

    PubMed

    Figueiredo, T; Melo, U S; Pessoa, A L S; Nobrega, P R; Kitajima, J P; Rusch, H; Vaz, F; Lucato, L T; Zatz, M; Kok, F; Santos, S

    2016-08-01

    The genetic basis of intellectual disability (ID) is extremely heterogeneous and relatively little is known about the role of autosomal recessive traits. In a field study performed in a highly inbred area of Northeastern Brazil, we identified and investigated a large consanguineous family with nine adult members affected by severe ID associated with disruptive behavior. The Genome-Wide Human SNP Array 6.0 microarray was used to determine regions of homozygosity by descent from three affected and one normal family member. Whole-exome sequencing (WES) was performed in one affected patient using the Nextera Rapid-Capture Exome kit and Illumina HiSeq2500 system to identify the causative mutation. Potentially deleterious variants detected in regions of homozygosity by descent and not present in either 59 723 unrelated individuals from the Exome Aggregation Consortium (Browser) or 1484 Brazilians were subject to further scrutiny and segregation analysis by Sanger sequencing. Homozygosity-by-descent analysis disclosed a 20.7-Mb candidate region at 8q12.3-q21.2 (lod score: 3.11). WES identified a homozygous deleterious variant in inositol monophosphatase 1 (IMPA1) (NM_005536), consisting of a 5-bp duplication (c.489_493dupGGGCT; chr8: 82,583,247; GRCh37/hg19) leading to a frameshift and a premature stop codon (p.Ser165Trpfs*10) that cosegregated with the disease in 26 genotyped family members. The IMPA1 gene product is responsible for the final step of biotransformation of inositol triphosphate and diacylglycerol, two second messengers. Despite its many physiological functions, no clinical phenotype has been assigned to this gene dysfunction to date. Additionally, IMPA1 is the main target of lithium, a drug that is at the forefront of treatment for bipolar disorder. PMID:26416544

  12. Intensive care adult patients with severe respiratory failure caused by Influenza A (H1N1)v in Spain

    PubMed Central

    2009-01-01

    Introduction Patients with influenza A (H1N1)v infection have developed rapidly progressive lower respiratory tract disease resulting in respiratory failure. We describe the clinical and epidemiologic characteristics of the first 32 persons reported to be admitted to the intensive care unit (ICU) due to influenza A (H1N1)v infection in Spain. Methods We used medical chart reviews to collect data on ICU adult patients reported in a standardized form. Influenza A (H1N1)v infection was confirmed in specimens using real-time reverse transcriptase-polymerase-chain-reaction (RT PCR) assay. Results Illness onset of the 32 patients occurred between 23 June and 31 July, 2009. The median age was 36 years (IQR = 31 - 52). Ten (31.2%) were obese, 2 (6.3%) pregnant and 16 (50%) had pre-existing medical complications. Twenty-nine (90.6%) had primary viral pneumonitis, 2 (6.3%) exacerbation of structural respiratory disease and 1 (3.1%) secondary bacterial pneumonia. Twenty-four patients (75.0%) developed multiorgan dysfunction, 7 (21.9%) received renal replacement techniques and 24 (75.0%) required mechanical ventilation. Six patients died within 28 days, with two additional late deaths. Oseltamivir administration delay ranged from 2 to 8 days after illness onset, 31.2% received high-dose (300 mg/day), and treatment duration ranged from 5 to 10 days (mean 8.0 ± 3.3). Conclusions Over a 5-week period, influenza A (H1N1)v infection led to ICU admission in 32 adult patients, with frequently observed severe hypoxemia and a relatively high case-fatality rate. Clinicians should be aware of pulmonary complications of influenza A (H1N1)v infection, particularly in pregnant and young obese but previously healthy persons. PMID:19747383

  13. Normal development of the muscular region of the interventricular septum. II. The importance of myocardial proliferation.

    PubMed

    Contreras-Ramos, A; Sánchez-Gómez, C; Fierro-Pastrana, R; González-Márquez, H; Acosta-Vazquez, F; Arellano-Galindo, J

    2009-06-01

    In a first paper, we concluded that the muscular region of the interventricular septum is developed by the trabecular branches and showed evidence that the developing interventricular septum elongates in a direction opposite to that of atria. Nevertheless, to date the literature is lacking precise information on the importance of myocardial proliferation not only in this process but also in the morphogenesis of the ventricular cavities. The aim of this study was to determine the spatial and temporal distribution of high-intensity foci of cycling myocytes in the ventricular region of the heart of chicken embryos during cardiac septation. Histological studies, detection of the proliferating cell nuclear antigen by light and confocal microscopy and flow cytometric analysis were carried out. The results corroborate that the developing interventricular septum grows in a direction opposite to that of atria. A remoulding mechanism that results in fenestrated trabecular sheets and trabecular branching is discussed. Our findings allowed us to summarize the normal morphogenesis of the muscular region of the interventricular septum in a way that is different from that suggested by other researchers. PMID:19469768

  14. Cavum septum pellucidum in a case of schizophrenia presenting with self-mutilating behavior

    PubMed Central

    Umesh, Shreekantiah; Bose, Swarnali; Khanra, Sourav; Das, Basudeb; Nizamie, S. Haque

    2015-01-01

    Cavum septum pellucidum (CSP) is a neurodevelopmental anomaly, which is commonly reported in schizophrenia patients. Various symptoms of schizophrenia, including thought disturbances have been associated with CSP. We present a rare case of undifferentiated schizophrenia with CSP who presented with self-mutilating behaviors. PMID:26257488

  15. Clinical and morphologic features of lipomatous hypertrophy ("massive fatty deposits") of the interatrial septum.

    PubMed

    Gay, J D; Guileyardo, J M; Townsend-Parchman, J K; Ross, K

    1996-03-01

    Lipomatous hypertrophy of the interatrial septum ("massive fatty deposits in the atrial septum") may represent an incidental autopsy finding or may be associated with atrial arrhythmias, obstructive symptoms, or sudden death. Antemortem diagnosis is becoming much more common. In a literature review and in a review of our 12 cases, this condition was found to occur more frequently in obese middle-aged or elderly subjects, who frequently demonstrated atherosclerotic coronary artery disease. The unencapsulated mass generally occurred anterior or superior to the fossa ovalis, and histologically was characterized by mature fat with varying quantities of fetal fat, inflammation and fibrosis, and entrapment of myocardial fibers with cytologic atypia. Cases were included that had a minimum atrial septal thickness of 1.0 cm. The septum ranged up to 7.0 cm in maximum thickness (2.6 cm average). In our cases, no deaths were directly attributed to this disorder. It is important that forensic pathologists become more generally aware of this condition. To further delineate the true pathological significance, the atrial septum should be routinely examined by palpation and sectioning to determine its thickness and fat content. PMID:8838469

  16. Compact fluorescent lamp using horizontal and vertical insulating septums and convective venting geometry

    DOEpatents

    Siminovitch, M.

    1998-02-10

    A novel design is described for a compact fluorescent lamp, including a lamp geometry which will increase light output and efficacy of the lamp in a base down operating position by providing horizontal and vertical insulating septums positioned in the ballast compartment of the lamp to provide a cooler coldspot. Selective convective venting provides additional cooling of the ballast compartment. 9 figs.

  17. Compact fluorescent lamp using horizontal and vertical insulating septums and convective venting geometry

    DOEpatents

    Siminovitch, Michael

    1998-01-01

    A novel design for a compact fluorescent lamp, including a lamp geometry which will increase light output and efficacy of the lamp in a base down operating position by providing horizontal and vertical insulating septums positioned in the ballast compartment of the lamp to provide a cooler coldspot. Selective convective venting provides additional cooling of the ballast compartment.

  18. LIFETIME MEASUREMENT WITH PSEUDO MOVEABLE SEPTUM IN NSLS X-RAY RING

    SciTech Connect

    Wang, G.M.; Choi; J.; Kramer; S.; Shaftan; T.; Heese; R.; Yang; X.

    2011-03-28

    The National Synchrotron Light Source II (NSLS-II) is a state of the art 3 GeV third generation light source currently under construction at Brookhaven National Laboratory and starts to commission in 2014. The beam injection works with two septa and four fast kicker magnets in an injection section. To improve the injection stability and reproducibility, we plan to implement a slow local bump on top of the fast bump so that the fast kicker strength is reduced. This bump works as a pseudo movable septum. We can also use this 'movable' septum to measure the storage ring beam partial lifetime resulting from the septum edge and possibly increasing the lifetime by moving the stored beam orbit away from the edge. We demonstrate the feasibility of this idea, by implementing DC bump in NSLS X-ray ring. We report the results of beam lifetime measurements as a function of the amplitude of this bumped orbit relative to the septum and the idea of a slow bump that could reduce the fast bump magnet strengths.

  19. In vitro evaluation of nasal mucociliary clearance using excised rat nasal septum.

    PubMed

    Inoue, Daisuke; Furubayashi, Tomoyuki; Ogawara, Ken-ichi; Kimura, Toshikiro; Higaki, Kazutaka; Katsumi, Hidemasa; Sakane, Toshiyasu; Yamamoto, Akira; Higashi, Yutaka

    2012-01-01

    Mucus on the nasal mucosa is translocated to the pharynx by ciliary beating, which is an important nonspecific defense mechanism called mucociliary clearance (MC). MC is one of the important factors determining the rate and extent of drug absorption after nasal application. The purpose of this study is to evaluate MC using rat nasal septum under physiological condition in an in vitro system. The nasal septum was excised from rats anesthetized with urethane and the movement of fluorescent microspheres (FMS) applied on the nasal septum was observed with a fluorescence microscope. FMS were transported at a constant velocity in the same direction for a few minutes, but addition of 4% mucin solution on the nasal septum maintained MC for at least 90 min after excision. With our evaluation system established by modifying the method of Saldiva, MC was determined to be around 1 mm/min. Furthermore, the ciliostatic effect of benzalkonium chloride was observed, and it was confirmed that β-adrenergic antagonists and a cholinergic antagonist decreased MC, and that β-adrenergic agonists and a cholinergic agonist tended to increase MC, indicating that our system is valid and useful for evaluating MC function and the effect of drugs and pharmaceutical additives for nasal application on MC. PMID:22687480

  20. Human Respiratory Syncytial Virus Memphis 37 Grown in HEp-2 Cells Causes more Severe Disease in Lambs than Virus Grown in Vero Cells

    PubMed Central

    Derscheid, Rachel J.; van Geelen, Albert; McGill, Jodi L.; Gallup, Jack M.; Cihlar, Tomas; Sacco, Randy E.; Ackermann, Mark R.

    2013-01-01

    Respiratory syncytial virus (RSV) is the most common cause of bronchiolitis in infants and young children. A small percentage of these individuals develop severe and even fatal disease. To better understand the pathogenesis of severe disease and develop therapies unique to the less-developed infant immune system, a model of infant disease is needed. The neonatal lamb pulmonary development and physiology is similar to that of infants, and sheep are susceptible to ovine, bovine, or human strains of RSV. RSV grown in Vero (African green monkey) cells has a truncated attachment G glycoprotein as compared to that grown in HEp-2 cells. We hypothesized that the virus grown in HEp-2 cells would cause more severe clinical symptoms and cause more severe pathology. To confirm the hypothesis, lambs were inoculated simultaneously by two different delivery methods (intranasal and nebulized inoculation) with either Vero-grown or HEp-2-grown RSV Memphis 37 (M37) strain of virus to compare viral infection and disease symptoms. Lambs infected with HEp-2 cell-derived virus by either intranasal or nebulization inoculation had significantly higher levels of viral RNA in lungs as well as greater clinical disease including both gross and histopathologic lesions compared to lambs similarly inoculated with Vero-grown virus. Thus, our results provide convincing in vivo evidence for differences in viral infectivity that corroborate previous in vitro mechanistic studies demonstrating differences in the G glycoprotein expression by RSV grown in Vero cells. PMID:24284879

  1. Three-Dimensional Evaluation of Implant Positioning in the Maxillary Sinus Septum: A Retrospective Study

    PubMed Central

    Dragan, Eliza; Guillaume, Odri A.; Haba, Danisia; Olszewski, Raphael

    2015-01-01

    Background The aim of this study was to simulate implant placement in the maxillary sinus septum, as a potential alternative site to avoid sinus grafting. Material/Methods One hundred partially or completely edentulous patients, with their maxillary sinus septum present in the edentulous region, were selected from the database of the Department of Maxillofacial Surgery, Cliniques Universitaires Saint Luc, Bruxelles, Belgium. Three-dimensional (3D) reconstructions were created using 3D planning software. 3D reconstructions were performed for each maxillary sinus. Using the software implant library, the implants that presented the best fit with the maxillary sinus septum and that followed the established inclusion criteria were selected. Results All of the implants were inserted in premolar and molar regions. Most implants were inserted in the position of the second molar (21 of 55) or in the position of the first molar (17 of 55). In all sites the most frequently used implant was 4 mm in diameter and 7 mm in height. The mean coronal angle for the implant was 80.19±17.13 degrees and the mean sagittal angle was 94.83±9.94 degrees. The septal height represents 38.13% of the total available bone height (ABH). The mean percentage of the septum used to insert the implants was 47.33±2.47%. The septum increased the available bone height by a mean value of 2.18±1.47 mm. In 45 cases, the septa did not permit implant placement. Conclusions In completely edentulous patients, inserting implants in sinus septa does not exclude the need for sinus grafting, but in partially edentulous patients, this minimally invasive technique is an alternative to subantral augmentation. PMID:26363865

  2. Severe Legionnaire's disease caused by Legionella longbeachae in a long-term renal transplant patient: the importance of safe living strategies after transplantation.

    PubMed

    Wright, A J; Humar, A; Gourishankar, S; Bernard, K; Kumar, D

    2012-08-01

    Legionella species are intracellular gram-negative bacilli that require specific culture media for growth. Transplant recipients with impaired cellular immunity are at particular risk for infection with this pathogen. Most human disease is caused by Legionella pneumophila; disease caused by non-L. pneumophila species is reported mainly in immunosuppressed patients with the exception of Legionella longbeachae. L. longbeachae is a common cause of Legionnaires' disease in Australia and New Zealand, and is associated with exposure to potting soil. We report the case of a patient, 26 years post kidney transplant, who presented with severe and rapidly progressive respiratory illness. L. longbeachae serogroup 1 was isolated from respiratory cultures. Further investigation revealed that she had significant soil exposure before the onset of illness. We highlight the importance of following safe living strategies to prevent exposure-related illness even in long-term transplant recipients. PMID:22686947

  3. Pseudodementia caused by severe depression

    PubMed Central

    Tobe, Edward

    2012-01-01

    The diagnosis of pseudodementia may be difficult in a patient with a history of major depressive disorder. Clinical case history. A 70-year-old man with a history of major depressive disorder, in remission for 3 years, presented with confusion, agitation and cognitive disorder. The differential diagnosis included depression with pseudodementia, drug-induced dementia or Alzheimer disease. Mild cognitive improvement was noted after discontinuation of simvastatin. After 9 months of treatment for depression, the patient had remission that was sustained for >1 year, with mild residual difficulty remembering words of songs. The differential diagnosis of dementia includes major depressive disorder and adverse events from simvastatin. PMID:23242083

  4. Enterovirus 71 Infection Causes Severe Pulmonary Lesions in Gerbils, Meriones unguiculatus, Which Can Be Prevented by Passive Immunization with Specific Antisera

    PubMed Central

    Xia, Yong; Qian, Lei; Yang, Zhang-Nv; Xie, Rong-Hui; Sun, Yi-Sheng; Lu, Hang-Jing; Miao, Zi-Ping; Li, Chan; Li, Xiao; Liang, Wei-Feng; Huang, Xiao-Xiao; Xia, Shi-Chang; Chen, Zhi-Ping; Jiang, Jian-Min; Zhang, Yan-Jun; Mei, Ling-Ling; Liu, She-Lan; Gu, Hua; Xu, Zhi-Yao; Fu, Xiao-Fei; Zhu, Zhi-Yong; Zhu, Han-Ping

    2015-01-01

    Neurogenic pulmonary edema caused by severe brainstem encephalitis is the leading cause of death in young children infected by Enterovirus 71 (EV71). However, no pulmonary lesions have been found in EV71-infected transgenic or non-transgenic mouse models. Development of a suitable animal model is important for studying EV71 pathogenesis and assessing effect of therapeutic approaches. We had found neurological disorders in EV71-induced young gerbils previously. Here, we report severe pulmonary lesions characterized with pulmonary congestion and hemorrhage in a gerbil model for EV71 infection. In the EV71-infected gerbils, six 21-day-old or younger gerbils presented with a sudden onset of symptoms and rapid illness progression after inoculation with 1×105.5 TCID50 of EV71 via intraperitoneal (IP) or intramuscular (IM) route. Respiratory symptoms were observed along with interstitial pneumonia, pulmonary congestion and extensive lung hemorrhage could be detected in the lung tissues by histopathological examination. EV71 viral titer was found to be peak at late stages of infection. EV71-induced pulmonary lesions, together with severe neurological disorders were also observed in gerbils, accurately mimicking the disease process in EV71-infected patients. Passive transfer with immune sera from EV71 infected adult gerbils with a neutralizing antibody (GMT=89) prevented severe pulmonary lesion formation after lethal EV71 challenge. These results establish this gerbil model as a useful platform for studying the pathogenesis of EV71-induced pulmonary lesions, immunotherapy and antiviral drugs. PMID:25767882

  5. Atypical radiological and intraoperative findings of acute cerebral hemorrhage caused by ruptured cerebral aneurysm in a patient with severe chronic anemia.

    PubMed

    Matano, Fumihiro; Murai, Yasuo; Nakagawa, Shunsuke; Kato, Taisei; Kitamura, Takayuki; Sekine, Tetsuro; Takagi, Ryo; Teramoto, Akira

    2014-01-01

    Acute intracerebral hemorrhage (ICH) associated with mild anemia is commonly observed on radiological examination, and there are several reports of ruptured aneurysms occurring with ICH but without accompanying subarachnoid hemorrhage. However, the relationship among computed tomography (CT), magnetic resonance imaging (MRI), and intraoperative findings of ICH caused by ruptured cerebral aneurysm in patients with severe chronic anemia has been rarely reported and is poorly understood. Here, we report atypical radiological and intraoperative findings of acute ICH caused by ruptured cerebral aneurysm in a patient with severe chronic anemia. A 64-year-old man with anemia was admitted to our hospital after he experienced left hemiparesis and a disturbance of consciousness. At a referring institution, he showed evidence of macrocytic anemia (white blood cell count, 9,000/μL; red blood cell count, 104×10(4)/μL; hemoglobin, 4.0 g/dL; hematocrit, 12.2%; and platelet count, 26.6×10(4)/μL). Both CT and MRI showed a right frontal ICH. The outer ring of the hematoma appeared as low-density area on CT, a low-intensity area on T1-weighted MRI, and a high-intensity area on T2-weighted MRI with a serous component. The patient received a blood transfusion and underwent surgical removal of the hematoma the following day. The white serous effusion visualized with CT and MRI was identified as a blood clot in the hematoma cavity. The blood that leaks from blood vessels appears as a high-intensity area on CT because it undergoes plasma absorption in a solidification shrinkage process, and is, therefore, concentrated. Although we did not examine the white effusion to determine if serous components were present, we speculated that the effusion may have contained serous components. Therefore, we removed the part of the effusion that appeared as a low-density area on CT. The presence of ICH without subarachnoid hemorrhage suggested the possible adhesion and rupture of a previous

  6. [The application of the nanostructured bioplastic material for the plastic reconstruction of perforations in the nasal septum].

    PubMed

    Grigor'eva, M V; Akimov, A V; Bagautdinov, A A

    2014-01-01

    The objective of the present work was to estimate the effectiveness of the application of the nanostructured bioplastic material for the plastic reconstruction of perforations in the nasal septum. A total of 80 patients were recruited for the study. Half of them underwent plastic reconstruction of perforations in the nasal septum with the application of the nanostructured bioplastic material. Forty patients were treated using no biotransplants. The functional state of nasal cavity mucosa was evaluated before and after surgery. It is concluded that the nanostructured bioplastic material used in the present study ensures efficacious reconstruction of nasal septum integrity after plastic correction of septal perforations. PMID:25588475

  7. Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

    PubMed

    Webb, Tom R; Parfitt, David A; Gardner, Jessica C; Martinez, Ariadna; Bevilacqua, Dalila; Davidson, Alice E; Zito, Ilaria; Thiselton, Dawn L; Ressa, Jacob H C; Apergi, Marina; Schwarz, Nele; Kanuga, Naheed; Michaelides, Michel; Cheetham, Michael E; Gorin, Michael B; Hardcastle, Alison J

    2012-08-15

    X-linked retinitis pigmentosa (XLRP) is genetically heterogeneous with two causative genes identified, RPGR and RP2. We previously mapped a locus for a severe form of XLRP, RP23, to a 10.71 Mb interval on Xp22.31-22.13 containing 62 genes. Candidate gene screening failed to identify a causative mutation, so we adopted targeted genomic next-generation sequencing of the disease interval to determine the molecular cause of RP23. No coding variants or variants within or near splice sites were identified. In contrast, a variant deep within intron 9 of OFD1 increased the splice site prediction score 4 bp upstream of the variant. Mutations in OFD1 cause the syndromic ciliopathies orofaciodigital syndrome-1, which is male lethal, Simpson-Golabi-Behmel syndrome type 2 and Joubert syndrome. We tested the effect of the IVS9+706A>G variant on OFD1 splicing in vivo. In RP23 patient-derived RNA, we detected an OFD1 transcript with the insertion of a cryptic exon spliced between exons 9 and 10 causing a frameshift, p.N313fs.X330. Correctly spliced OFD1 was also detected in patient-derived RNA, although at reduced levels (39%), hence the mutation is not male lethal. Our data suggest that photoreceptors are uniquely susceptible to reduced expression of OFD1 and that an alternative disease mechanism can cause XLRP. This disease mechanism of reduced expression for a syndromic ciliopathy gene causing isolated retinal degeneration is reminiscent of CEP290 intronic mutations that cause Leber congenital amaurosis, and we speculate that reduced dosage of correctly spliced ciliopathy genes may be a common disease mechanism in retinal degenerations. PMID:22619378

  8. Solid Right Ventricular Compression by Intraventricular Septum-Hematoma Induced after Percutaneous Coronary Intervention

    PubMed Central

    El-Battrawy, Ibrahim; Akin, Ibrahim; Münz, Benedikt; Leistner, David Manuel; Behnes, Michael; Henzler, Thomas; Haubenreisser, Holger; Papavassiliu, Theano; Borggrefe, Martin; Lehmann, Ralf

    2016-01-01

    Intraventricular septum-hematoma is a rare complication following percutaneous coronary intervention (PCI). This complication may represent a challenge for accurate diagnosis and treatment. This case report is about a 60-year-old male patient being admitted with an acute coronary syndrome. Despite successful PCI with drug eluting stent implantation into the right coronary artery (RCA) the patient complained about recurrent angina pectoris according to Canadian Cardiovascular Society (CCS) class IV. Cardiac magnetic resonance imaging and transthoracic echocardiography revealed a massive 4.9 × 9.2 cm sized end-diastolic septum-hematoma, which compromised right ventricular cavity. Emergent recoronary angiography ruled out further contrast extravasation from the RCA. Conservative treatment was intended after discussion in the “heart-team.” The patient completely recovered with nearly complete resolution of the hematoma after 6 months. PMID:27119029

  9. [A Rare Case of Subependymoma of the Septum Pellucidum as Intratumoral Hemorrhage].

    PubMed

    Kawahara, Ichiro; Fujimoto, Takashi; Hirose, Makoto; Toba, Tamotsu

    2015-12-01

    Subependymomas (SEs) are rare, benign, noninvasive, slow-growing tumors located anywhere along the ventricular walls. They arise most frequently in the fourth ventricle followed by the lateral ventricle, and less frequently in the septum pellucidum, third ventricle, and spinal cord. Most SEs are found incidentally at autopsy, but some may produce clinical symptoms. Tumor-related hemorrhage represents an extremely rare presentation sign. We describe a rare case of septum pellucidum SE as tumoral hemorrhage. The tumor was totally removed via an interhemispheric transcallosal approach. Histological examination found typical SE. Although the patient had transient memory impairment, he had a good postoperative course and was discharged on the twenty-first postoperative day. PMID:26646177

  10. Treatment of Virgin OHVIRA Syndrome with Haematometrocolpos by Complete Incision of Vaginal Septum without Hymenotomy

    PubMed Central

    Tug, Niyazi; Çelik, Ayhan; Alp, Turgut; Yenidede, Ilter

    2015-01-01

    Mullerian malformations result from defective fusion of the Mullerian ducts during development of the female reproductive system and have an incidence of 2-3%. The American Fertility Society classification of Mullerian anomalies is the most commonly utilized standardized classification. The least common form of these malformations is Herlyn-Werner-Wunderlich syndrome characterized by obstructed hemivagina and ipsilateral renal anomaly (OHVIRA). This syndrome has been described with case reports since 1922. Early diagnosis and surgery that include drainage of fluid and resection of the vaginal septum is necessary for OHVIRA to prevent late complications (i.e. pyocolpos, chronic cryptomenorrhea). Here in we report a case of Herlyn-Werner-Wunderlich syndrome that hymen has been preserved during the operation of non-fenestrated transverse vaginal septum resection with hysteroscopy. PMID:26676254

  11. Treatment of Virgin OHVIRA Syndrome with Haematometrocolpos by Complete Incision of Vaginal Septum without Hymenotomy.

    PubMed

    Tug, Niyazi; Sargin, Mehmet Akif; Çelik, Ayhan; Alp, Turgut; Yenidede, Ilter

    2015-11-01

    Mullerian malformations result from defective fusion of the Mullerian ducts during development of the female reproductive system and have an incidence of 2-3%. The American Fertility Society classification of Mullerian anomalies is the most commonly utilized standardized classification. The least common form of these malformations is Herlyn-Werner-Wunderlich syndrome characterized by obstructed hemivagina and ipsilateral renal anomaly (OHVIRA). This syndrome has been described with case reports since 1922. Early diagnosis and surgery that include drainage of fluid and resection of the vaginal septum is necessary for OHVIRA to prevent late complications (i.e. pyocolpos, chronic cryptomenorrhea). Here in we report a case of Herlyn-Werner-Wunderlich syndrome that hymen has been preserved during the operation of non-fenestrated transverse vaginal septum resection with hysteroscopy. PMID:26676254

  12. Severe craniocerebral trauma with sequelae caused by Flash-Ball® shot, a less-lethal weapon: Report of one case and review of the literature.

    PubMed

    Hiquet, Jean; Gromb-Monnoyeur, Sophie

    2016-07-01

    The use of Flash-Ball® as a non-lethal weapon by several special units within the police and police forces started in France in 1995. Little literature is available concerning injuries caused by Flash-Ball® shooting. However, we report the case of a healthy 34-year-old male victim of a Flash-Ball® shooting during a riot following a sports event. This young man presented serious craniocerebral injuries with a left temporal fracture, moderate cerebral oedema, fronto-temporal haemorrhagic contusion along with an extra-dural hematoma and subarachnoid hemorrhage requiring neurological and rehabilitation care for two months leaving important sequelae. Although the risk is obviously lower than with firearms, Flash-Ball® is nonetheless potentially lethal and may cause serious physical injuries, particularly after a shot to the head. PMID:26130748

  13. Iron yoke eddy current induced losses with application to the ALS septum magnets

    SciTech Connect

    Schlueter, R.D.

    1991-08-16

    The theoretical development of relations governing the eddy current induced losses in iron electromagnet yokes is reviewed. A baseline laminated electromagnet design is analyzed and a parametric study illustrates the sensitivity of core losses to perturbations of various geometrical, material, and excitation parameters. Core losses and field gradients for the ALS septum magnets are calculated. Design modifications capable of eliminating transverse and longitudinal field gradients are discussed.

  14. Lupus vulgaris leading to perforation of nasal septum in a child.

    PubMed

    Singal, Archana; Arora, Rahul; Pandhi, Deepika

    2015-01-01

    Lupus vulgaris (LV) is a common form of cutaneous tuberculosis in India, mostly involving the lower half of the body. Facial involvement is uncommon. Untreated disease may lead to significant morbidity due to atrophic scarring, mutilation, and deformity. We report a case of multi-focal LV in a 10-year-old boy affecting the nose and cheek that resulted in perforation of the nasal septum, a rarely reported complication. PMID:26009716

  15. Laser valvotomy with balloon valvoplasty for pulmonary atresia with intact ventricular septum: five years' experience.

    PubMed Central

    Gibbs, J. L.; Blackburn, M. E.; Uzun, O.; Dickinson, D. F.; Parsons, J. M.; Chatrath, R. R.

    1997-01-01

    OBJECTIVE: To assess immediate and medium term results of transcatheter laser valvotomy with balloon valvoplasty in selected infants with pulmonary atresia and intact ventricular septum. DESIGN: Prospective study. SETTING: Tertiary cardiac unit. PATIENTS: All infants with pulmonary atresia and intact septum with no more than minor tricuspid valve hypoplasia referred between November 1990 and June 1995. Laser valvotomy was attempted in nine infants of median age 4-5 days and median weight 3.6 kg. INTERVENTION: The pulmonary valve was perforated using a 0.018 inch fibreoptic guidewire attached to a NdYag laser and introduced through a catheter positioned beneath the valve. After perforation the valve was dilated with progressively larger balloons. MAIN OUTCOME MEASURES: Successful laser valvotomy and balloon dilatation, complications, pulse oximetry, right ventricular outflow velocities, and need for surgical treatment. RESULTS: Valvotomy was successful in all but one case, the failure being due to laser breakdown. After perforation the valve was dilated to 6-8 mm diameter. Prostaglandin E was withdrawn immediately in six of the eight duct dependent infants, and 28 and 49 days later in two. No patient required an aortopulmonary shunt. Two patients had repeat valvoplasty at 20 days and three months of age, respectively; one required infundibular resection and closure of the atrial septum at age four and one is awaiting similar treatment. CONCLUSIONS: Laser valvotomy with balloon valvoplasty is safe and effective treatment for selected patients with pulmonary atresia and intact ventricular septum and should be considered as first line treatment in place of surgical valvotomy. Images PMID:9093038

  16. Severe Soft Tissue Infection Caused by a Non-Beta-Hemolytic Streptococcus pyogenes Strain Harboring a Premature Stop Mutation in the sagC Gene

    PubMed Central

    Gerlach, Roman G.; Ensser, Armin; Dahesh, Samira; Popp, Isabel; Heeg, Christiane; Bleiziffer, Oliver; Merz, Thomas; Schulz, Theresia; Horch, Raymund E.; Bogdan, Christian; Nizet, Victor; van der Linden, Mark

    2013-01-01

    We recovered a non-beta-hemolytic Streptococcus pyogenes strain from a severe soft tissue infection. In this isolate, we detected a premature stop codon within the sagC gene of the streptolysin S (SLS) biosynthetic operon. Reintroduction of full-length sagC gene on a plasmid vector restored the beta-hemolytic phenotype to our clinical isolate, indicating that the point mutation in sagC accounted for loss of hemolytic activity. To the best of our knowledge, this is the first report to demonstrate that a severe soft tissue infection can be caused by a non-beta-hemolytic S. pyogenes strain lacking a functional SagC. PMID:23515542

  17. Managing severe dermatitis caused by ileal peristomal leakage using a mushroom-type (de Pezzer) catheter in infants: a case series.

    PubMed

    Banani, Seyed Abbas; Banani, Seyed Javad

    2013-12-01

    Skin damage secondary to peristomal leakage is a fairly common complication of ileostomies in infants. Traditional conservative measures, including skin barriers, ointments, and agents to reduce bowel movements, initially may be helpful but not in all patients. The purpose of this case series was to describe a new and relatively simple procedure to temporarily manage severe peristomal dermatitis caused by ileal peristomal leakage in infants. After obtaining informed consent from the parents, a mushroom-type (de Pezzer) catheter was inserted into the ileostomy of 11 1- to 4-month-old infants (seven males, four females) with severe peristomal dermatitis. Eight had total aganglionic colon (TAC), two had meconium ileus (cystic fibrosis), and one had meconium peritonitis due to bowel perforation proximal to ileal atresia. The severity of the peristomal dermatitis improved remarkably in all patients after 2 to 3 days. In eight patients, minimal (if any) dermatitis was noted within 5 to 7 days after tube insertion. Six patients who initially had poor weight gain (mean 345 g/month) developed acceptable weight gain (mean 648 g/month) (P <0.03) within 2 to 4 months. In seven patients with TAC, the tube was maintained for 2 to 4 months until definitive pull-through procedure; in four other patients, the tube remained in place for 3 to 7 days as a step for preoperative build-up. None of the patients developed any complications. The procedure requires the presence of a pediatric or trained surgeon, and care must be taken to prevent iatrogenic damage. In this case series, an appropriate-size, mushroom-type (de Pezzer) catheter placed within the ileostomy was a practical mode for temporary control of ileal peristomal leakage that causes severe peristomal dermatitis in infants, particularly in those not responding to medical therapy. Larger studies are needed to develop evidence-based protocols of care for the prevention and management of ileostoma complications in infants. PMID

  18. Severe hyponatremia caused by nab-paclitaxel-induced syndrome of inappropriate antidiuretic hormone secretion: A case report in a patient with metastatic pancreatic adenocarcinoma.

    PubMed

    Neuzillet, Cindy; Babai, Samy; Kempf, Emmanuelle; Pujol, Géraldine; Rousseau, Benoît; Le-Louët, Hervé; Christophe Tournigand

    2016-06-01

    Incidence of pancreatic ductal adenocarcinoma (PDAC) is increasing. Most patients have advanced disease at diagnosis and therapeutic options in this setting are limited. Gemcitabine plus nab-paclitaxel regimen was demonstrated to increase survival compared with gemcitabine monotherapy and is therefore indicated as first-line therapy in patients with metastatic PDAC and performance status Eastern Cooperative Oncology Group (ECOG) 0-2. The safety profile of gemcitabine and nab-paclitaxel combination includes neutropenia, fatigue, and neuropathy as most common adverse events of grade 3 or higher. No case of severe hyponatremia associated with the use of nab-paclitaxel for the treatment of PDAC has been reported to date.We report the case of a 72-year-old Caucasian man with a metastatic PDAC treated with gemcitabine and nab-paclitaxel regimen, who presented with a severe hyponatremia (grade 4) caused by a documented syndrome of inappropriate antidiuretic hormone secretion (SIADH). This SIADH was attributed to nab-paclitaxel after a rigorous imputability analysis, including a rechallenge procedure with dose reduction. After dose and schedule adjustment, nab-paclitaxel was pursued without recurrence of severe hyponatremia and with maintained efficacy.Hyponatremia is a rare but potentially severe complication of nab-paclitaxel therapy that medical oncologists and gastroenterologists should be aware of. Nab-paclitaxel-induced hyponatremia is manageable upon dose and schedule adaptation, and should not contraindicate careful nab-paclitaxel reintroduction. This is of particular interest for a disease in which the therapeutic options are limited. PMID:27368013

  19. Sever's Disease

    MedlinePlus

    ... Tests How do I know if my child's heel pain is caused by Sever's disease? In Sever's disease, heel pain can be in one or both heels. It ... cut down or stop any activity that causes heel pain. Apply ice to the injured heel for 20 ...

  20. Mesodermal expression of Moz is necessary for cardiac septum development.

    PubMed

    Vanyai, Hannah K; Thomas, Tim; Voss, Anne K

    2015-07-01

    Ventricular septal defects (VSDs) are the most commonly occurring congenital heart defect. They are regularly associated with complex syndromes, including DiGeorge syndrome and Holt-Oram syndrome, which are characterised by haploinsufficiency for the T-box transcription factors TBX1 and TBX5, respectively. The histone acetyltransferase monocytic leukaemia zinc finger protein, MOZ (MYST3/KAT6A), is required for the expression of the Tbx1 and Tbx5 genes. Homozygous loss of MOZ results in DiGeorge syndrome-like defects including VSD. The Moz gene is expressed in the ectodermal, mesodermal and endodermal aspects of the developing pharyngeal apparatus and heart; however it is unclear in which of these tissues MOZ is required for heart development. The role of MOZ in the activation of Tbx1 would suggest a requirement for MOZ in the mesoderm, because deletion of Tbx1 in the mesoderm causes VSDs. Here, we investigated the tissue-specific requirements for MOZ in the mesoderm. We demonstrate that Mesp1-cre-mediated deletion of Moz results in high penetrance of VSDs and overriding aorta and a significant decrease in MOZ-dependant Tbx1 and Tbx5 expression. Together, our data suggest that the molecular pathogenesis of VSDs in Moz germline mutant mice is due to loss of MOZ-dependant activation of mesodermal Tbx1 and Tbx5 expression. PMID:25912687

  1. Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.

    PubMed

    Palmio, Johanna; Jonson, Per Harald; Evilä, Anni; Auranen, Mari; Straub, Volker; Bushby, Kate; Sarkozy, Anna; Kiuru-Enari, Sari; Sandell, Satu; Pihko, Helena; Hackman, Peter; Udd, Bjarne

    2015-11-01

    DNAJB6 is the causative gene for limb-girdle muscular dystrophy 1D (LGMD1D). Four different coding missense mutations, p.F89I, p.F93I, p.F93L, and p.P96R, have been reported in families from Europe, North America and Asia. The previously known mutations cause mainly adult-onset proximal muscle weakness with moderate progression and without respiratory involvement. A Finnish family and a British patient have been studied extensively due to a severe muscular dystrophy. The patients had childhood-onset LGMD, loss of ambulation in early adulthood and respiratory involvement; one patient died of respiratory failure aged 32. Two novel mutations, c.271T > A (p.F91I) and c.271T > C (p.F91L), in DNAJB6 were identified by whole exome sequencing as a cause of this severe form of LGMD1D. The results were confirmed by Sanger sequencing. The anti-aggregation effect of the mutant DNAJB6 was investigated in a filter-trap based system using transient transfection of mammalian cell lines and polyQ-huntingtin as a model for an aggregation-prone protein. Both novel mutant proteins show a significant loss of ability to prevent aggregation. PMID:26338452

  2. Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.

    PubMed

    Delmaghani, Sedigheh; Aghaie, Asadollah; Bouyacoub, Yosra; El Hachmi, Hala; Bonnet, Crystel; Riahi, Zied; Chardenoux, Sebastien; Perfettini, Isabelle; Hardelin, Jean-Pierre; Houmeida, Ahmed; Herbomel, Philippe; Petit, Christine

    2016-06-01

    By genetic linkage analysis in a large consanguineous Iranian family with eleven individuals affected by severe to profound congenital deafness, we were able to define a 2.8 Mb critical interval (at chromosome 1p21.2-1p21.1) for an autosomal-recessive nonsyndromic deafness locus (DFNB). Whole-exome sequencing allowed us to identify a CDC14A biallelic nonsense mutation, c.1126C>T (p.Arg376(∗)), which was present in the eight clinically affected individuals still alive. Subsequent screening of 115 unrelated individuals affected by severe or profound congenital deafness of unknown genetic cause led us to identify another CDC14A biallelic nonsense mutation, c.1015C>T (p.Arg339(∗)), in an individual originating from Mauritania. CDC14A encodes a protein tyrosine phosphatase. Immunofluorescence analysis of the protein distribution in the mouse inner ear showed a strong labeling of the hair cells' kinocilia. By using a morpholino strategy to knockdown cdc14a in zebrafish larvae, we found that the length of the kinocilia was reduced in inner-ear hair cells. Therefore, deafness caused by loss-of-function mutations in CDC14A probably arises from a morphogenetic defect of the auditory sensory cells' hair bundles, whose differentiation critically depends on the proper growth of their kinocilium. PMID:27259055

  3. Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

    PubMed

    Heuertz, Solange; Le Merrer, Martine; Zabel, Bernhard; Wright, Michael; Legeai-Mallet, Laurence; Cormier-Daire, Valérie; Gibbs, Linda; Bonaventure, Jacky

    2006-12-01

    Achondroplasia (ACH) and hypochondroplasia (HCH) are two autosomal-dominant skeletal disorders caused by recurrent missense FGFR3 mutations in the transmembrane (TM) and tyrosine kinase 1 (TK1) domains of the receptor. Although 98% of ACH cases are accounted for by a single G380R substitution in the TM, a common mutation (N540K) in the TK1 region is detected in only 60-65% of HCH cases. The aim of this study was to determine whether the frequency of mutations in patients with HCH was the result of incomplete mutation screening or genetic heterogeneity. Eighteen exons of the FGFR3 gene were entirely sequenced in a cohort of 25 HCH and one ACH patients in whom common mutations had been excluded. Seven novel missense FGFR3 mutations were identified, one causing ACH and six resulting in HCH. Six of these substitutions were located in the extracellular region and four of them creating additional cysteine residues, were associated with severe phenotypes. No mutations were detected in 19 clinically diagnosed HCH patients. Our results demonstrate that the spectrum of FGFR3 mutations causing short-limb dwarfism is wider than originally recognised and emphasise the requirement for complete screening of the FGFR3 gene if appropriate genetic counselling is to be offered to patients with HCH or ACH lacking the most common mutations and their families. PMID:16912704

  4. Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

    PubMed

    Brockschmidt, Antje; Todt, Unda; Ryu, Soojin; Hoischen, Alexander; Landwehr, Christina; Birnbaum, Stefanie; Frenck, Wilhelm; Radlwimmer, Bernhard; Lichter, Peter; Engels, Hartmut; Driever, Wolfgang; Kubisch, Christian; Weber, Ruthild G

    2007-06-15

    Pitt-Hopkins syndrome (PHS) is a rare syndromic mental disorder, which is mainly characterized by severe motor and mental retardation including absent language development, a characteristic facial gestalt and episodes of hyperventilation. We report on a female patient with PHS showing severe mental retardation with absent speech, pronounced muscular hypotonia, ataxia, distinctive facial features, such as a coarse face, a broad nasal bridge and a wide mouth, and hyperventilation attacks. In this patient, genomic profiling by array-based comparative genomic hybridization and fluorescence in situ hybridization studies detected and confirmed a de novo 0.5 Mb deletion in 18q21.2 containing a single gene, the basic helix-loop-helix transcription factor TCF4. cDNA and genomic analyses in the patient and her parents demonstrated TCF4 haploinsufficiency as the underlying cause of the disease. Analysis of the embryonal expression pattern of the Danio rerio ortholog, tcf4, by whole-mount in situ hybridization showed a highly specific expression domain in the pallium of the telencephalon during late somitogenesis, when the patterning of the zebrafish brain is advanced and neural differentiation commences. Later expression domains were restricted to several regions in the central nervous system, including continued expression in the pallium of the telencephalon, and starting expression in the diencephalon (thalamus, ventral thalamus and posterior tuberculum), the midbrain tegmentum, the hindbrain and the branchial arches. This expression pattern correlates with the clinical phenotype. Our results show that haploinsufficiency of TCF4 causes PHS and suggest that D. rerio is a valuable model to study the molecular pathogenesis of PHS and the role of TCF4 in brain development. PMID:17478476

  5. Garvicin A, a Novel Class IId Bacteriocin from Lactococcus garvieae That Inhibits Septum Formation in L. garvieae Strains

    PubMed Central

    Cárdenas, Nivia; Martínez, Beatriz; Ruiz-Barba, José Luis; Fernández-Garayzábal, José F.; Rodríguez, Juan M.; Gibello, Alicia

    2013-01-01

    Lactococcus garvieae 21881, isolated in a human clinical case, produces a novel class IId bacteriocin, garvicin A (GarA), which is specifically active against other L. garvieae strains, including fish- and bovine-pathogenic isolates. Purification from active supernatants, sequence analyses, and plasmid-curing experiments identified pGL5, one of the five plasmids found in L. garvieae [M. Aguado-Urda et al., PLoS One 7(6):e40119, 2012], as the coding plasmid for the structural gene of GarA (lgnA), its putative immunity protein (lgnI), and the ABC transporter and its accessory protein (lgnC and lgnD). Interestingly, pGL5-cured strains were still resistant to GarA. Other putative bacteriocins encoded by the remaining plasmids were not detected during purification, pointing to GarA as the main inhibitor secreted by L. garvieae 21881. Mode-of-action studies revealed a potent bactericidal activity of GarA. Moreover, transmission microscopy showed that GarA seems to act by inhibiting septum formation in L. garvieae cells. This potent and species-specific inhibition by GarA holds promise for applications in the prevention or treatment of infections caused by pathogenic strains of L. garvieae in both veterinary and clinical settings. PMID:23666326

  6. Infection with a Mouse-Adapted Strain of the 2009 Pandemic Virus Causes a Highly Severe Disease Associated with an Impaired T Cell Response

    PubMed Central

    Meunier, Isabelle; Morisseau, Olivier; Garneau, Émilie; Marois, Isabelle; Cloutier, Alexandre; Richter, Martin V.

    2015-01-01

    Despite a relatively low fatality rate, the 2009 H1N1 pandemic virus differed from other seasonal viruses in that it caused mortality and severe pneumonia in the young and middle-aged population (18–59 years old). The mechanisms underlying this increased disease severity are still poorly understood. In this study, a human isolate of the 2009 H1N1 pandemic virus was adapted to the mouse (MAp2009). The pathogenicity of the MAp2009 virus and the host immune responses were evaluated in the mouse model and compared to the laboratory H1N1 strain A/Puerto Rico/8/1934 (PR8). The MAp2009 virus reached consistently higher titers in the lungs over 14 days compared to the PR8 virus, and caused severe disease associated with high morbidity and 85% mortality rate, contrasting with the 0% death rate in the PR8 group. During the early phase of infection, both viruses induced similar pathology in the lungs. However, MAp2009-induced lung inflammation was sustained until the end of the study (day 14), while there was no sign of inflammation in the PR8-infected group by day 10. Furthermore, at day 3 post-infection, MAp2009 induced up to 10- to 40-fold more cytokine and chemokine gene expression, respectively. More importantly, the numbers of CD4+ T cells and virus-specific CD8+ T cells were significantly lower in the lungs of MAp2009-infected mice compared to PR8-infected mice. Interestingly, there was no difference in the number of dendritic cells in the lung and in the draining lymph node. Moreover, mice infected with PR8 or MAp2009 had similar numbers of CCR5 and CXCR3-expressing T cells, suggesting that the impaired T cell response was not due to a lack of chemokine responsiveness or priming of T cells. This study demonstrates that a mouse-adapted virus from an isolate of the 2009 pandemic virus interferes with the adaptive immune response leading to a more severe disease. PMID:26381265

  7. Sex Differences in Somatotrope Dependency on Leptin Receptors in Young Mice: Ablation of LEPR Causes Severe Growth Hormone Deficiency and Abdominal Obesity in Males.

    PubMed

    Allensworth-James, Melody L; Odle, Angela; Haney, Anessa; Childs, Gwen

    2015-09-01

    Leptin receptor (LEPR) signaling controls appetite and energy expenditure. Somatotrope-specific deletion of the LEPRb signaling isoform causes GH deficiency and obesity. The present study selectively ablated Lepr exon 1 in somatotropes, which removes the signal peptide, causing the loss of all isoforms of LEPR. Excision of Lepr exon 1 was restricted to the pituitary, and mutant somatotropes failed to respond to leptin. Young (2-3 mo) males showed a severe 84% reduction in serum GH levels and more than 60% reduction in immunolabeled GH cells compared with 41%-42% reductions in GH and GH cells in mutant females. Mutant males (35 d) and females (45 d) weighed less than controls and males had lower lean body mass. Image analysis of adipose tissue by magnetic resonance imaging showed that young males had a 2-fold increase in abdominal fat mass and increased adipose tissue density. Young females had only an overall increase in adipose tissue. Both males and females showed lower energy expenditure and higher respiratory quotient, indicating preferential carbohydrate burning. Young mutant males slept less and were more restless during the dark phase, whereas the opposite was true of females. The effects of a Cre-bearing sire on his non-Cre-recombinase bearing progeny are seen by increased respiratory quotient and reduced litter sizes. These studies elucidate clear sex differences in the extent to which somatotropes are dependent on all isoforms of LEPR. These results, which were not seen with the ablation of Lepr exon 17, highlight the severe consequences of ablation of LEPR in male somatotropes. PMID:26168341

  8. Severe glomerular disease in juvenile grey snapper Lutjanus griseus L. in the Gulf of Mexico caused by the myxozoan Sphaerospora motemarini n. sp.

    PubMed Central

    Holzer, Astrid S.; Pecková, Hanka; Patra, Sneha; Brennan, Nathan P.; Yanes-Roca, Carlos; Main, Kevan L.

    2013-01-01

    In the eastern Gulf of Mexico, off the coast of Florida, grey snapper, Lutjanus griseus was found to be infected with the myxozoan parasite Sphaerospora motemarini n. sp., with high prevalence (83%) and intensity of infection occuring in age-0 fish, and with parasite levels decreasing with age (age-1 snapper 40%; age-2 snapper 0%). The morphological, molecular and phylogenetic characterisation of the myxozoan showed that it is a member of the typically marine, polysporoplasmid Sphaerospora spp. which form a subclade within the Sphaerospora sensu stricto clade of myxozoans, which is characterised by large expansion segments in their SSU rDNA sequences. Presporogonic stages of S. motemarini n. sp. were detected in the blood, using PCR. Pseudoplasmodia and spores were found to develop in the renal corpuscles of the host, causing their massive expansion. Macroscopic and histopathological changes were observed in age-0 fish and show that S. motemarini n. sp. causes severe glomerulonephritis in L. griseus leading to a compromised host condition, which makes it more susceptible to stress (catch-and-release, predators, water quality) and can result in mortalities. These results are discussed in relation to the exploitation of grey snapper populations by commercial and recreational fisheries and with the observed increased mortalities with temperature along the coast of Florida. In the future, we would like to determine prevalence and intensity of infection with S. motemarini n. sp. in juvenile L. griseus in different areas of the Gulf of Mexico in order to be able to estimate the temperature dependence of S. motemarini n. sp. proliferation and to be able to predict its distribution and severity during climatic changes in the Gulf. PMID:24533325

  9. Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

    PubMed Central

    McAleer, Maeve A.; Pohler, Elizabeth; Smith, Frances J.D.; Wilson, Neil J.; Cole, Christian; MacGowan, Stuart; Koetsier, Jennifer L.; Godsel, Lisa M.; Harmon, Robert M.; Gruber, Robert; Crumrine, Debra; Elias, Peter M.; McDermott, Michael; Butler, Karina; Broderick, Annemarie; Sarig, Ofer; Sprecher, Eli; Green, Kathleen J.; McLean, W.H. Irwin; Irvine, Alan D.

    2015-01-01

    Background Severe dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome is a recently recognized syndrome caused by mutations in the desmoglein 1 gene (DSG1). To date, only 3 families have been reported. Objective We studied a new case of SAM syndrome known to have no mutations in DSG1 to detail the clinical, histopathologic, immunofluorescent, and ultrastructural phenotype and to identify the underlying molecular mechanisms in this rare genodermatosis. Methods Histopathologic, electron microscopy, and immunofluorescent studies were performed. Whole-exome sequencing data were interrogated for mutations in desmosomal and other skin structural genes, followed by Sanger sequencing of candidate genes in the patient and his parents. Results No mutations were identified in DSG1; however, a novel de novo heterozygous missense c.1757A>C mutation in the desmoplakin gene (DSP) was identified in the patient, predicting the amino acid substitution p.His586Pro in the desmoplakin polypeptide. Conclusions SAM syndrome can be caused by mutations in both DSG1 and DSP. Knowledge of this genetic heterogeneity is important for both analysis of patients and genetic counseling of families. This condition and these observations reinforce the importance of heritable skin barrier defects, in this case desmosomal proteins, in the pathogenesis of atopic disease. PMID:26073755

  10. Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency.

    PubMed Central

    Filosa, S.; Giacometti, N.; Wangwei, C.; De Mattia, D.; Pagnini, D.; Alfinito, F.; Schettini, F.; Luzzatto, L.; Martini, G.

    1996-01-01

    X-chromosome inactivation in mammals is regarded as an essentially random process, but the resulting somatic-cell mosaicism creates the opportunity for cell selection. In most people with red-blood-cell glucose-6-phosphate dehydrogenase (G6PD) deficiency, the enzyme-deficient phenotype is only moderately expressed in nucleated cells. However, in a small subset of hemizygous males who suffer from chronic nonspherocytic hemolytic anemia, the underlying mutations (designated class I) cause more-severe G6PD deficiency, and this might provide an opportunity for selection in heterozygous females during development. In order to test this possibility we have analyzed four heterozygotes for class I G6PD mutations: two with G6PD Portici (1178G-->A) and two with G6PD Bari (1187C-->T). We found that in fractionated blood cell types (including erythroid, myeloid, and lymphoid cell lineages) there was a significant excess of G6PD-normal cells. The significant concordance that we have observed in the degree of imbalance in the different blood-cell lineages indicates that a selective mechanism is likely to operate at the level of pluripotent blood stem cells. Thus, it appears that severe G6PD deficiency affects adversely the proliferation or the survival of nucleated blood cells and that this phenotypic characteristic is critical during hematopoiesis. Images Figure 1 Figure 3 Figure 4 Figure 5 Figure 6 PMID:8808605

  11. Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism.

    PubMed

    Milger, Katrin; Holdt, Lesca Miriam; Teupser, Daniel; Huber, Rudolf Maria; Behr, Jürgen; Kneidinger, Nikolaus

    2015-01-01

    Deficiency in the serine protease inhibitor, alpha-1 antitrypsin (AAT), is known to cause emphysema and liver disease. Other manifestations, including airway disease or skin disorders, have also been described. A 44-year-old woman presented to our emergency department with dyspnea and respiratory insufficiency. She had never smoked, and had been diagnosed with COPD 9 years earlier. Three months previously, she had suffered a pulmonary embolism. Chest computed tomography scan revealed severe cystic bronchiectasis with destruction of the lung parenchyma. The sweat test was normal and there was no evidence of the cystic fibrosis transmembrane conductance regulator (CFTR) mutation. Capillary zone electrophoresis showed a decrease of alpha-1 globin band and AAT levels were below the quantification limit (<25 mg/dL). No S or Z mutation was identified, but sequencing analysis found a homozygous cytosine and adenine (CA) insertion in exon 2 of the SERPINA-1 gene, probably leading to a dysfunctional protein (PI Null/Null). This mutation has not been previously identified. The atypical presentation of the patient, with severe cystic bronchiectasis, highlights AAT deficiency as a differential diagnosis in bronchiectasis. Further, awareness should be raised regarding a possible increased risk of thromboembolism associated with AAT deficiency. PMID:26005342

  12. Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency

    SciTech Connect

    Filosa, S.; Giacometti, N.; Wangwei, C.; Martini, G.

    1996-10-01

    X-chromosome inactivation in mammals is regarded as an essentially random process, but the resulting somatic-cell mosaicism creates the opportunity for cell selection. In most people with red-blood-cell glucose-6-phosphate dehydrogenase (G6PD) deficiency, the enzyme-deficient phenotype is only moderately expressed in nucleated cells. However, in a small subset of hemizygous males who suffer from chronic nonspherocytic hemolytic anemia, the underlying mutations (designated class I) cause more-severe G6PD deficiency, and this might provide an opportunity for selection in heterozygous females during development. In order to test this possibility we have analyzed four heterozygotes for class I G6PD mutations: two with G6PD Portici (1178G{r_arrow}A) and two with G6PD Bari (1187C{r_arrow}T). We found that in fractionated blood cell types (including erythroid, myeloid, and lymphoid cell lineages) there was a significant excess of G6PD-normal cells. The significant concordance that we have observed in the degree of imbalance in the different blood-cell lineages indicates that a selective mechanism is likely to operate at the level of pluripotent blood stem cells. Thus, it appears that severe G6PD deficiency affects adversely the proliferation or the survival of nucleated blood cells and that this phenotypic characteristic is critical during hematopoiesis. 65 refs., 6 figs., 3 tabs.

  13. Bekki--Nozaki Hole in Traveling Excited Waves on Human Cardiac Interventricular Septum

    NASA Astrophysics Data System (ADS)

    Bekki, Naoaki; Harada, Yoshifumi; Kanai, Hiroshi

    2012-07-01

    We observe some phase singularities in traveling excited waves noninvasively measured by a novel ultrasonic method, on a human cardiac interventricular septum (IVS) for a healthy young male. We present a possible physical model explaining a part of one-dimensional cardiac dynamics of the observed phase defects on the IVS. We show that at least one of the observed phase singularities in the excited waves on the IVS can be explained by the Bekki--Nozaki hole solution in the complex Ginzburg--Landau equation, although the creation and annihilation of phase singularities on the IVS give birth to a variety of complex patterns.

  14. Pulmonary atresia with intact ventricular septum and hypoplastic right ventricle in an Arabian foal.

    PubMed

    Krüger, M U; Wünschmann, A; Ward, C; Stauthammer, C D

    2016-09-01

    Pulmonary atresia with intact ventricular septum, rudimentary tricuspid valve, hypoplastic right ventricle, and right-to-left atrial shunting were identified in a four-day-old, male Arabian foal with clinical signs of cyanotic heart disease. Pulmonary blood flow was apparently derived from a ductus arteriosus. Echocardiographic evaluation revealed the majority of cardiac abnormalities and also findings compatible with right-sided congestive heart failure. Congenital cardiac defects have a high incidence in this breed, and this is the first description of this combination of congenital cardiac defects. PMID:27283083

  15. A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement

    PubMed Central

    Symoens, Sofie; Malfait, Fransiska; Vlummens, Philip; Hermanns-Lê, Trinh; Syx, Delfien; De Paepe, Anne

    2011-01-01

    Background The Ehlers-Danlos Syndrome (EDS) is a heritable connective tissue disorder characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. The classic subtype of EDS is caused by mutations in one of the type V collagen genes (COL5A1 and COL5A2). Most mutations affect the type V collagen helical domain and lead to a diminished or structurally abnormal type V collagen protein. Remarkably, only two mutations were reported to affect the extended, highly conserved N-propeptide domain, which plays an important role in the regulation of the heterotypic collagen fibril diameter. We identified a novel COL5A1 N-propeptide mutation, resulting in an unusual but severe classic EDS phenotype and a remarkable splicing outcome. Methodology/Principal Findings We identified a novel COL5A1 N-propeptide acceptor-splice site mutation (IVS6-2A>G, NM_000093.3_c.925-2A>G) in a patient with cutaneous features of EDS, severe progressive scoliosis and eye involvement. Two mutant transcripts were identified, one with an exon 7 skip and one in which exon 7 and the upstream exon 6 are deleted. Both transcripts are expressed and secreted into the extracellular matrix, where they can participate in and perturb collagen fibrillogenesis, as illustrated by the presence of dermal collagen cauliflowers. Determination of the order of intron removal and computational analysis showed that simultaneous skipping of exons 6 and 7 is due to the combined effect of delayed splicing of intron 7, altered pre-mRNA secondary structure, low splice site strength and possibly disturbed binding of splicing factors. Conclusions/Significance We report a novel COL5A1 N-propeptide acceptor-splice site mutation in intron 6, which not only affects splicing of the adjacent exon 7, but also causes a splicing error of the upstream exon 6. Our findings add further insights into the COL5A1 splicing order and show for the first time that a single COL5A1 acceptor-splice site mutation can perturb

  16. Aerosol Exposure to Rift Valley Fever Virus Causes Earlier and More Severe Neuropathology in the Murine Model, which Has Important Implications for Therapeutic Development

    PubMed Central

    Reed, Christopher; Lin, Kenny; Wilhelmsen, Catherine; Friedrich, Brian; Nalca, Aysegul; Keeney, Ashley; Donnelly, Ginger; Shamblin, Joshua; Hensley, Lisa E.; Olinger, Gene; Smith, Darci R.

    2013-01-01

    Rift Valley fever virus (RVFV) is an important mosquito-borne veterinary and human pathogen that can cause severe disease including acute-onset hepatitis, delayed-onset encephalitis, retinitis and blindness, or a hemorrhagic syndrome. Currently, no licensed vaccine or therapeutics exist to treat this potentially deadly disease. Detailed studies describing the pathogenesis of RVFV following aerosol exposure have not been completed and candidate therapeutics have not been evaluated following an aerosol exposure. These studies are important because while mosquito transmission is the primary means for human infection, it can also be transmitted by aerosol or through mucosal contact. Therefore, we directly compared the pathogenesis of RVFV following aerosol exposure to a subcutaneous (SC) exposure in the murine model by analyzing survival, clinical observations, blood chemistry, hematology, immunohistochemistry, and virus titration of tissues. Additionally, we evaluated the effectiveness of the nucleoside analog ribavirin administered prophylactically to treat mice exposed by aerosol and SC. The route of exposure did not significantly affect the survival, chemistry or hematology results of the mice. Acute hepatitis occurred despite the route of exposure. However, the development of neuropathology occurred much earlier and was more severe in mice exposed by aerosol compared to SC exposed mice. Mice treated with ribavirin and exposed SC were partially protected, whereas treated mice exposed by aerosol were not protected. Early and aggressive viral invasion of brain tissues following aerosol exposure likely played an important role in ribavirin's failure to prevent mortality among these animals. Our results highlight the need for more candidate antivirals to treat RVFV infection, especially in the case of a potential aerosol exposure. Additionally, our study provides an account of the key pathogenetic differences in RVF disease following two potential exposure routes and

  17. Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.

    PubMed

    Larsen, Mirjam; Rost, Simone; El Hajj, Nady; Ferbert, Andreas; Deschauer, Marcus; Walter, Maggie C; Schoser, Benedikt; Tacik, Pawel; Kress, Wolfram; Müller, Clemens R

    2015-06-01

    Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder with a wide clinical variability. Contractions of the D4Z4 macrosatellite repeat on chromosome 4q35 are the molecular basis of the pathophysiology. Recently, in a subset of patients without D4Z4 repeat contractions, variants in the SMCHD1 gene have been identified that lead to hypomethylation of D4Z4 and thus DUX4 transcription, which causes FSHD type 2. In this study, we have screened 55 FSHD1-negative and 40 FSHD1-positive patients from unrelated families for potentially pathogenic variants in SMCHD1 by next-generation sequencing (NGS). We identified variants in SMCHD1 in 11 index patients, including missense, splice site and non-sense mutations. We developed a pyrosequencing assay to determine the methylation status of the D4Z4 repeat array and found significantly lower methylation levels for FSHD2 patients than for healthy controls and FSHD1 patients. Two out of eleven SMCHD1 mutation carriers had moderately contracted D4Z4 alleles thus these patients are suffering from FSHD1 and 2. Comparing the phenotype of patients, all FSHD2 patients were relatively mildly affected while patients with FSHD1+2 were much more severely affected than expected from their D4Z4 copy number. Our findings confirm the role of SMCHD1 mutations in FSHD2 and as a modifier of disease severity. With SMCHD1 variants found in 16.4% of phenotypic FSHD patients without D4Z4 repeat contractions, the incidence of FSHD2 is rather high and hence we suggest including sequencing of SMCHD1, haplotyping and methylation analysis in the workflow of molecular FSHD diagnostics. PMID:25370034

  18. Antibody to severe acute respiratory syndrome (SARS)-associated coronavirus spike protein domain 2 cross-reacts with lung epithelial cells and causes cytotoxicity

    PubMed Central

    Lin, Y S; Lin, C F; Fang, Y T; Kuo, Y M; Liao, P C; Yeh, T M; Hwa, K Y; Shieh, C C K; Yen, J H; Wang, H J; Su, I J; Lei, H Y

    2005-01-01

    Both viral effect and immune-mediated mechanism are involved in the pathogenesis of severe acute respiratory syndrome-associated coronavirus (SARS-CoV) infection. In this study, we showed that in SARS patient sera there were autoantibodies (autoAbs) that reacted with A549 cells, the type-2 pneumocytes, and that these autoAbs were mainly IgG. The autoAbs were detectable 20 days after fever onset. Tests of non-SARS-pneumonia patients did not show the same autoAb production as in SARS patients. After sera IgG bound to A549 cells, cytotoxicity was induced. Cell cytotoxicity and the anti-epithelial cell IgG level were positively correlated. Preabsorption and binding assays indicated the existence of cross-reactive epitopes on SARS-CoV spike protein domain 2 (S2). Furthermore, treatment of A549 cells with anti-S2 Abs and IFN-γ resulted in an increase in the adherence of human peripheral blood mononuclear cells to these epithelial cells. Taken together, we have demonstrated that the anti-S2 Abs in SARS patient sera cause cytotoxic injury as well as enhance immune cell adhesion to epithelial cells. The onset of autoimmune responses in SARS-CoV infection may be implicated in SARS pathogenesis. PMID:16045740

  19. A series of abnormal climatic conditions caused the most severe outbreak of first-generation adults of the meadow moth (Loxostege sticticalis L.) in China

    NASA Astrophysics Data System (ADS)

    Chen, Xiao; Zeng, Juan; Zhai, Baoping

    2015-10-01

    The meadow moth, Loxostege sticticalis L., is a destructive migratory pest in the northern temperate zone. The outbreak mechanism of first-generation adults in China remains unclear. In 2008, the density of first-generation larvae was very low or even negligible in most sites in China. However, a great number of first-generation adults appeared unexpectedly in late July, and their offspring caused the most severe infestation on record. The present study aims to determine where the large influx of immigrant adults originated from and how this unprecedented population was established. Source areas were explored by trajectory analysis, and climatic patterns related to the population increase were investigated. Results showed that the outbreak population mainly immigrated from Northeast Mongolia and the Chita State of Russia, and the buildup of such a large population could be attributed to an exceptional northward migration of overwintered adults from North China to East Mongolia in the spring of 2007 and unusually favourable climatic conditions in the next two growth seasons. These results indicated that the population dynamics of meadow moth in Northeast Asia would be difficult to predict when only considering local climatic factors and population size within one country. International joint monitoring and information sharing related to this pest between China, Mongolia and Russia should be implemented.

  20. T−B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3ζ subunit of the T-cell antigen receptor complex

    PubMed Central

    Lauritsen, Jens Peter H.; Cooney, Myriah; Parrott, Roberta E.; Sajaroff, Elisa O.; Win, Chan M.; Keller, Michael D.; Carpenter, Jeffery H.; Carabana, Juan; Krangel, Michael S.; Sarzotti, Marcella; Zhong, Xiao-Ping; Wiest, David L.; Buckley, Rebecca H.

    2007-01-01

    CD3ζ is a subunit of the T-cell antigen receptor (TCR) complex required for its assembly and surface expression that also plays an important role in TCR-mediated signal transduction. We report here a patient with T−B+NK+ severe combined immunodeficiency (SCID) who was homozygous for a single C insertion following nucleotide 411 in exon 7 of the CD3ζ gene. The few T cells present contained no detectable CD3ζ protein, expressed low levels of cell surface CD3ε, and were nonfunctional. CD4+CD8−CD3εlow, CD4−CD8+CD3εlow, and CD4−CD8−CD3εlow cells were detected in the periphery, and the patient also exhibited an unusual population of CD56−CD16+ NK cells with diminished cytolytic activity. Additional studies demonstrated that retrovirally transduced patient mutant CD3ζ cDNA failed to rescue assembly of nascent complete TCR complexes or surface TCR expression in CD3ζ-deficient MA5.8 murine T-cell hybridoma cells. Nascent transduced mutant CD3ζ protein was also not detected in metabolically labeled MA5.8 cells, suggesting that it was unstable and rapidly degraded. Taken together, these findings provide the first demonstration that complete CD3ζ deficiency in humans can cause SCID by preventing normal TCR assembly and surface expression. PMID:17170122

  1. Toxic epidermal necrolysis caused by acetaminophen featuring almost 100% skin detachment: Acetaminophen is associated with a risk of severe cutaneous adverse reactions.

    PubMed

    Watanabe, Hideaki; Kamiyama, Taisuke; Sasaki, Shun; Kobayashi, Kae; Fukuda, Kenichiro; Miyake, Yasufumi; Aruga, Tohru; Sueki, Hirohiko

    2016-03-01

    Toxic epidermal necrolysis (TEN) is an adverse reaction that can be induced by various drugs; the associated mortality rate is 20-25%. A previous report showed a weak association between TEN and acetaminophen. Recently, the US Food and Drug Administration declared that acetaminophen is associated with a risk of serious skin reactions, including TEN. Here, we describe the case of a 43-year-old Japanese woman with TEN caused by acetaminophen. She had poorly controlled ulcerative colitis and was treated with high doses of prednisolone, infliximab, acetaminophen and lansoprazole. Nine days after administrating acetaminophen, targetoid erythematous and bullous lesions appeared on the patient's trunk, palms and the soles of her feet. The skin lesions expanded rapidly; within 3 weeks, skin detachment was detected across nearly 100% of the patient's body. However, no mucosal involvement of the eyes, oral cavity or genitalia was found. We performed lymphocyte transformation tests using various drugs; however, a high stimulation index was obtained only with acetaminophen. The patient recovered following treatment with plasmapheresis, i.v. immunoglobulin therapy, topical medication and supportive therapy. Acetaminophen is included in many prescription and over-the-counter products; thus, clinicians should monitor their patients for severe drug reactions, including TEN. PMID:26362011

  2. A series of abnormal climatic conditions caused the most severe outbreak of first-generation adults of the meadow moth (Loxostege sticticalis L.) in China.

    PubMed

    Chen, Xiao; Zeng, Juan; Zhai, Baoping

    2016-06-01

    The meadow moth, Loxostege sticticalis L., is a destructive migratory pest in the northern temperate zone. The outbreak mechanism of first-generation adults in China remains unclear. In 2008, the density of first-generation larvae was very low or even negligible in most sites in China. However, a great number of first-generation adults appeared unexpectedly in late July, and their offspring caused the most severe infestation on record. The present study aims to determine where the large influx of immigrant adults originated from and how this unprecedented population was established. Source areas were explored by trajectory analysis, and climatic patterns related to the population increase were investigated. Results showed that the outbreak population mainly immigrated from Northeast Mongolia and the Chita State of Russia, and the buildup of such a large population could be attributed to an exceptional northward migration of overwintered adults from North China to East Mongolia in the spring of 2007 and unusually favourable climatic conditions in the next two growth seasons. These results indicated that the population dynamics of meadow moth in Northeast Asia would be difficult to predict when only considering local climatic factors and population size within one country. International joint monitoring and information sharing related to this pest between China, Mongolia and Russia should be implemented. PMID:26438055

  3. A series of abnormal climatic conditions caused the most severe outbreak of first-generation adults of the meadow moth ( Loxostege sticticalis L.) in China

    NASA Astrophysics Data System (ADS)

    Chen, Xiao; Zeng, Juan; Zhai, Baoping

    2016-06-01

    The meadow moth, Loxostege sticticalis L., is a destructive migratory pest in the northern temperate zone. The outbreak mechanism of first-generation adults in China remains unclear. In 2008, the density of first-generation larvae was very low or even negligible in most sites in China. However, a great number of first-generation adults appeared unexpectedly in late July, and their offspring caused the most severe infestation on record. The present study aims to determine where the large influx of immigrant adults originated from and how this unprecedented population was established. Source areas were explored by trajectory analysis, and climatic patterns related to the population increase were investigated. Results showed that the outbreak population mainly immigrated from Northeast Mongolia and the Chita State of Russia, and the buildup of such a large population could be attributed to an exceptional northward migration of overwintered adults from North China to East Mongolia in the spring of 2007 and unusually favourable climatic conditions in the next two growth seasons. These results indicated that the population dynamics of meadow moth in Northeast Asia would be difficult to predict when only considering local climatic factors and population size within one country. International joint monitoring and information sharing related to this pest between China, Mongolia and Russia should be implemented.

  4. Enhanced chondrogenesis of human nasal septum derived progenitors on nanofibrous scaffolds.

    PubMed

    Shafiee, Abbas; Seyedjafari, Ehsan; Sadat Taherzadeh, Elham; Dinarvand, Peyman; Soleimani, Masoud; Ai, Jafar

    2014-07-01

    Topographical cues can be exploited to regulate stem cell attachment, proliferation, differentiation and function in vitro and in vivo. In this study, we aimed to investigate the influence of different nanofibrous topographies on the chondrogenic differentiation potential of nasal septum derived progenitors (NSP) in vitro. Aligned and randomly oriented Ploy (l-lactide) (PLLA)/Polycaprolactone (PCL) hybrid scaffolds were fabricated via electrospinning. First, scaffolds were fully characterized, and then NSP were seeded on them to study their capacity to support stem cell attachment, proliferation and chondrogenic differentiation. Compared to randomly oriented nanofibers, aligned scaffolds showed a high degree of nanofiber alignment with much better tensile strength properties. Both scaffolds supported NSP adhesion, proliferation and chondrogenic differentiation. Despite the higher rate of cell proliferation on random scaffolds, a better chondrogenic differentiation was observed on aligned nanofibers as deduced from higher expression of chondrogenic markers such as collagen type II and aggrecan on aligned scaffolds. These findings demonstrate that electrospun constructs maintain NSP proliferation and differentiation, and that the aligned nanofibrous scaffolds can significantly enhance chondrogenic differentiation of nasal septum derived progenitors. PMID:24857513

  5. [Rupture of the interventricular septum after the blunt trauma of thorax].

    PubMed

    Smejkal, K; Parízková, R; Harrer, J; Lukes, A; Koudelka, J; Zvák, I

    2008-02-01

    Authors present the case of little patient with the dissection, pseudoaneurysm and finally a rupture of the interventricular septum after the blunt thracic injury. The patient was smitten as a pedestrian by a car and during the whole period of her stay in the hospital she was showing signs of circulatory instability. Due to the current intraabdominal injuries this circulatory decompensation was first assigned to hemoperitoneum, for which the girl was operated on about 3 hours after admission. Nevertheless, even after the abdminal cavity check, after the treatment of supreficial liver lacerations and intensive volume resuscitation the patient showed signs of insufficiency. Diagnosis was finally determined on the base of the transthoracic echocardiography (TTE), which proved the traumatic rupture of interventricular septum. The operation followed correcting the defect, which was performed with a good result according to the TTE postoperatively. Nevertheless, 27 hours after the admission the patient died due to the electromechanical dissociation. In the discussion the authors then evoke a number of papers concerning the same topic. PMID:18380159

  6. Pacing the right ventricular outflow tract septum: time to embrace the future.

    PubMed

    Hillock, Richard J; Mond, Harry G

    2012-01-01

    Transvenous pacing has revolutionized the management of patients with potentially life-threatening bradycardias and at its most basic level ensures rate support to maintain cardiac output. However, we have known for at least a decade that pacing from the right ventricle (RV) apex can induce left ventricle (LV) dysfunction, atrial fibrillation, heart failure, and maybe an increased mortality. Although pacemaker manufacturers have developed successful pacing algorithms designed to minimize unnecessary ventricular pacing, it cannot be avoided in a substantial proportion of pacemaker-dependent patients. Just as there is undoubted evidence that RV apical pacing is injurious, there is emerging evidence that pacing from the RV septum is associated with a shorter duration of activation, improved haemodynamics, and less LV remodelling. The move from traditional RV apical pacing to RV septal pacing requires a change in mindset for many practitioners. The anatomical landmarks and electrocardiograph features of RV septal pacing are well described and easily recognized. While active fixation is required to place the lead on the septum, shaped stylets are now available to assist the implanter. In addition, concerns about the stability and longevity of steroid-eluting active fixation leads have proven to be unfounded. We therefore encourage all implanters to adopt RV septal pacing to minimize the potential of harm to their patients. PMID:21846639

  7. Regulation of septum formation by the Bud3-Rho4 GTPase module in Aspergillus nidulans.

    PubMed

    Si, Haoyu; Justa-Schuch, Daniela; Seiler, Stephan; Harris, Steven D

    2010-05-01

    The ability of fungi to generate polarized cells with a variety of shapes likely reflects precise temporal and spatial control over the formation of polarity axes. The bud site selection system of Saccharomyces cerevisiae represents the best-understood example of such a morphogenetic regulatory system. However, the extent to which this system is conserved in the highly polarized filamentous fungi remains unknown. Here, we describe the functional characterization and localization of the Aspergillus nidulans homolog of the axial bud site marker Bud3. Our results show that AnBud3 is not required for polarized hyphal growth per se, but is involved in septum formation. In particular, our genetic and biochemical evidence implicates AnBud3 as a guanine nucleotide exchange factor for the GTPase Rho4. Additional results suggest that the AnBud3-Rho4 module acts downstream of the septation initiation network to mediate recruitment of the formin SepA to the site of contractile actin ring assembly. Our observations provide new insight into the signaling pathways that regulate septum formation in filamentous fungi. PMID:20176976

  8. Interaction of a vasopressin antagonist with vasopressin receptors in the septum of the rat brain

    SciTech Connect

    Dorsa, D.M.; Brot, M.D.; Shewey, L.M.; Meyers, K.M.; Szot, P.; Miller, M.A.

    1988-01-01

    The ability of d(CH2)5-Tyr(Me)-arginine-8-vasopressin, an antagonist of peripheral pressoric (V1-type) vasopressin receptors, to label vasopressin binding sites in the septum of the rat brain was evaluated. Using crude membrane preparations from the septum, /sup 3/H-arginine-8-vasopressin (AVP) specifically labels a single class of binding sites with a Kd of 2.9 nM and maximum binding site concentration of 19.8 fmole/mg protein. /sup 3/H-Antag also labels a single class of membrane sites but with higher affinity (Kd = 0.47 nM) and lower capacity (10.1 fmole/mg protein) than /sup 3/H-AVP. The rank order of potency of various competitor peptides for /sup 3/H-AVP and /sup 3/H-Antag binding was similar. Oxytocin was 100-1,000 fold less potent than AVP in competing for binding with both ligands. /sup 3/H-AVP and /sup 3/H-Antag showed similar labeling patterns when incubated with septal tissue slices. Unlabeled Antag also effectively antagonized vasopressin-stimulated phosphatidylinositol hydrolysis in septal tissue slices.

  9. Environmental conditions that contribute to development and severity of Sugar Beet Fusarium Yellows caused by Fusarium oxysporum f. sp. betae: temperature

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Fusarium yellows in sugar beet, caused by Fusarium oxysporum f. sp. betae, continues to cause significant problems to sugar beet production by causing considerable reductions in root yield, sucrose percentage, and juice purity in affected sugar beets. Environment plays a critical role in pathogen i...

  10. Molecular composition and size distribution of sugars, sugar-alcohols and carboxylic acids in airborne particles during a severe urban haze event caused by wheat straw burning

    NASA Astrophysics Data System (ADS)

    Wang, Gehui; Chen, Chunlei; Li, Jianjun; Zhou, Bianhong; Xie, Mingjie; Hu, Shuyuan; Kawamura, Kimitaka; Chen, Yan

    2011-05-01

    Molecular compositions and size distributions of water-soluble organic compounds (WSOC, i.e., sugars, sugar-alcohols and carboxylic acids) in particles from urban air of Nanjing, China during a severe haze event caused by field burning of wheat straw were characterized and compared with those in the summer and autumn non-haze periods. During the haze event levoglucosan (4030 ng m -3) was the most abundant compound among the measured WSOC, followed by succinic acid, malic acid, glycerol, arabitol and glucose, being different from those in the non-haze samples, in which sucrose or azelaic acid showed a second highest concentration, although levoglucosan was the highest. The measured WSOC in the haze event were 2-20 times more than those in the non-hazy days. Size distribution results showed that there was no significant change in the compound peaks in coarse mode (>2.1 μm) with respect to the haze and non-haze samples, but a large difference in the fine fraction (<2.1 μm) was found with a sharp increase during the hazy days mostly due to the increased emissions of wheat straw burning. Molecular compositions of organic compounds in the fresh smoke particles from wheat straw burning demonstrate that sharply increased concentrations of glycerol and succinic and malic acids in the fine particles during the haze event were mainly derived from the field burning of wheat straw, although the sources of glucose and related sugar-alcohols whose concentrations significantly increased in the fine haze samples are unclear. Compared to that in the fresh smoke particles of wheat straw burning an increase in relative abundance of succinic acid to levoglucosan during the haze event suggests a significant production of secondary organic aerosols during transport of the smoke plumes.

  11. Severe Psychological Distress of Evacuees in Evacuation Zone Caused by the Fukushima Daiichi Nuclear Power Plant Accident: The Fukushima Health Management Survey

    PubMed Central

    Kunii, Yasuto; Suzuki, Yuriko; Shiga, Tetsuya; Yabe, Hirooki; Yasumura, Seiji; Maeda, Masaharu; Niwa, Shin-ichi; Otsuru, Akira; Mashiko, Hirobumi; Abe, Masafumi

    2016-01-01

    Background Following the Great East Japan Earthquake on March 11, 2011, the nuclear disaster at the Fukushima Daiichi Nuclear Power Plant has continued to affect the mental health status of residents in the evacuation zone. To examine the mental health status of evacuee after the nuclear accident, we conducted the Mental Health and Lifestyle Survey as part of the ongoing Fukushima Health Management Survey. Methods We measured mental health status using the Kessler 6-item psychological distress scale (K6) in a total of 73,569 (response rate: 40.7%) evacuees aged 15 and over who lived in the evacuation zone in Fukushima Prefecture. We then dichotomized responders using a 12/13 cutoff on the K6, and compared the proportion of K6 scores ≥13 and ≤12 in each risk factor including demographic information, socioeconomic variables, and disaster-related variables. We also performed bivariate analyses between mental health status and possible risk factors using the chi-square test. Furthermore, we performed multivariate regression analysis using modified Poisson regression models. Results The median K6 score was 5 (interquartile range: 1–10). The number of psychological distress was 8,717 (14.6%). We found that significant differences in the prevalence of psychological distress by almost all survey items, including disaster-related risk factors, most of which were also associated with increased Prevalence ratios (PRs). Additionally, we found that psychological distress in each evacuation zone was significantly positively associated with the radiation levels in their environment (r = 0.768, p = 0.002). Conclusion The earthquake, tsunami and subsequent nuclear accident likely caused severe psychological distress among residents in the evacuation zone in Fukushima Prefecture. The close association between psychological distress and the radiation levels shows that the nuclear accident seriously influenced the mental health of the residents, which might be exacerbated by

  12. Effect of Elevated Atmospheric CO2 and Temperature on the Disease Severity of Rocket Plants Caused by Fusarium Wilt under Phytotron Conditions

    PubMed Central

    Chitarra, Walter; Siciliano, Ilenia; Ferrocino, Ilario; Gullino, Maria Lodovica; Garibaldi, Angelo

    2015-01-01

    The severity of F. oxysporum f.sp. conglutinans on rocket plants grown under simulated climate change conditions has been studied. The rocket plants were cultivated on an infested substrate (4 log CFU g-1) and a non-infested substrate over three cycles. Pots were placed in six phytotrons in order to simulate different environmental conditions: 1) 400–450 ppm CO2, 18–22°C; 2) 800–850 ppm CO2, 18–22°C; 3) 400–450 ppm CO2, 22–26°C, 4) 800–850 ppm CO2, 22–26°C, 5) 400–450 ppm CO2, 26–30°C; 6) 800–850 ppm CO2, 26–30°C. Substrates from the infested and control samples were collected from each phytotron at 0, 60 and 120 days after transplanting. The disease index, microbial abundance, leaf physiological performances, root exudates and variability in the fungal profiles were monitored. The disease index was found to be significantly influenced by higher levels of temperature and CO2. Plate counts showed that fungal and bacterial development was not affected by the different CO2 and temperature levels, but a significant decreasing trend was observed from 0 up to 120 days. Conversely, the F. oxysporum f.sp. conglutinans plate counts did not show any significantly decrease from 0 up to 120 days. The fungal profiles, evaluated by means of polymerase chain reaction denaturing gradient gel electrophoresis (PCR-DGGE), showed a relationship to temperature and CO2 on fungal diversity profiles. Different exudation patterns were observed when the controls and infested plants were compared, and it was found that both CO2 and temperature can influence the release of compounds from the roots of rocket plants. In short, the results show that global climate changes could influence disease incidence, probably through plant-mediated effects, caused by soilborne pathogens. PMID:26469870

  13. Effect of Elevated Atmospheric CO2 and Temperature on the Disease Severity of Rocket Plants Caused by Fusarium Wilt under Phytotron Conditions.

    PubMed

    Chitarra, Walter; Siciliano, Ilenia; Ferrocino, Ilario; Gullino, Maria Lodovica; Garibaldi, Angelo

    2015-01-01

    The severity of F. oxysporum f.sp. conglutinans on rocket plants grown under simulated climate change conditions has been studied. The rocket plants were cultivated on an infested substrate (4 log CFU g-1) and a non-infested substrate over three cycles. Pots were placed in six phytotrons in order to simulate different environmental conditions: 1) 400-450 ppm CO2, 18-22°C; 2) 800-850 ppm CO2, 18-22°C; 3) 400-450 ppm CO2, 22-26°C, 4) 800-850 ppm CO2, 22-26°C, 5) 400-450 ppm CO2, 26-30°C; 6) 800-850 ppm CO2, 26-30°C. Substrates from the infested and control samples were collected from each phytotron at 0, 60 and 120 days after transplanting. The disease index, microbial abundance, leaf physiological performances, root exudates and variability in the fungal profiles were monitored. The disease index was found to be significantly influenced by higher levels of temperature and CO2. Plate counts showed that fungal and bacterial development was not affected by the different CO2 and temperature levels, but a significant decreasing trend was observed from 0 up to 120 days. Conversely, the F. oxysporum f.sp. conglutinans plate counts did not show any significantly decrease from 0 up to 120 days. The fungal profiles, evaluated by means of polymerase chain reaction denaturing gradient gel electrophoresis (PCR-DGGE), showed a relationship to temperature and CO2 on fungal diversity profiles. Different exudation patterns were observed when the controls and infested plants were compared, and it was found that both CO2 and temperature can influence the release of compounds from the roots of rocket plants. In short, the results show that global climate changes could influence disease incidence, probably through plant-mediated effects, caused by soilborne pathogens. PMID:26469870

  14. Characterization of a lily anther-specific gene encoding cytoskeleton-binding glycoproteins and overexpression of the gene causes severe inhibition of pollen tube growth.

    PubMed

    Wang, Bing-Jyun; Hsu, Yi-Feng; Chen, Yun-Chu; Wang, Co-Shine

    2014-09-01

    This work characterizes an anther/pollen-specific gene that encodes potential intermediate filament (IF)-binding glycoproteins in lily (Lilium longiflorum Thunb. cv. Snow Queen) anthers during the development and pollen germination. LLP13 is a single gene that encodes a polypeptide of 807 amino acids, and a calculated molecular mass of 91 kDa. The protein contains a predicted transmembrane domain at the N-terminus and a conserved domain of unknown function (DUF)593 at the C-terminal half of the polypeptide. Sequence analysis revealed that LLP13 shares significant identity (37-41 %) with two intermediate filament antigen-binding proteins, representing a unique subgroup of DUF593 domain proteins from known rice and Arabidopsis species. The expression of LLP13 gene is anther-specific, and the transcript accumulates only at the stage of pollen maturation. Both premature drying and abscisic acid (ABA) treatment of developing pollen indicated that LLP13 was not induced by desiccation and ABA, but by other developmental cues. Antiserum was raised against the overexpressed LLP13C fragment of the protein in Escherichia coli and affinity-purified antibodies were prepared. Immunoblot analyses revealed that the LLP13 protein was a heterogeneous, anther-specific glycoprotein that accumulated only at the stage of pollen maturation. The protein is not heat-soluble. The level of LLP13 protein remained for 24 h during germination in vitro. Overexpression of LLP13-GFP or GFP-LLP13 in lily pollen tubes caused severe inhibition of tube elongation. The LLP13 protein codistributed with mTalin in growing tubes, suggesting that it apparently decorates actin cytoskeleton and is likely a cytoskeleton-binding protein that binds with IFs that potentially exist in pollen tubes. PMID:24944111

  15. Aortopulmonary window: a rare mechanism of inter-circulatory mixing and prepared left ventricle in transposition of the great arteries with intact ventricular septum.

    PubMed

    Gopalan Nair, Rajesh; Kalathingathodika, Sajeer; Bastian, Cicy

    2014-08-01

    Transposition of the great arteries with intact ventricular septum and aortopulmonary window is an extremely rare anatomic combination associated with high morbidity and mortality. We report a case of a 3-month-old baby with d-transposition of the great arteries with intact ventricular septum and a large aortopulmonary window as a mechanism of inter-circulatory mixing. PMID:24020981

  16. GABAA Receptor Activation in the Lateral Septum Reduces the Expression of Conditioned Defeat and Increases Aggression in Syrian Hamsters

    PubMed Central

    McDonald, Mark M.; Markham, Chris M.; Norvelle, Alisa; Albers, H. Elliot; Huhman, Kim L.

    2012-01-01

    Exposure to social stressors can cause profound changes in an individual’s physiology and behavior. In Syrian hamsters, even a single social defeat results in conditioned defeat, which includes an abolishment of territorial aggression and the emergence of high levels of submissive behavior. The purpose of the current study was to determine whether the lateral septum (LS) is a component of the putative neural circuit underlying conditioned defeat. Experiment 1 explored the possibility that plasticity in the LS is necessary for the induction of conditioned defeat. Infusions of the protein synthesis inhibitor, anisomycin, prior to defeat training, however, failed to alter conditioned defeat during testing on the following day, suggesting that synaptic plasticity in the LS is not critical for defeat-induced suppression of aggression. Experiment 2 tested whether the LS is necessary for the expression of conditioned defeat. Infusions of the GABAA agonist muscimol into the LS prior to testing significantly increased aggression and decreased submission in previously defeated animals suggesting that the LS is an important component of the neural circuit mediating the expression of both aggression and submission in conditioned defeat. Experiment 3 examined whether the effects of muscimol on aggression were dependent on prior social defeat. Non-defeated animals receiving muscmol infusions prior to testing with a non-aggressive intruder displayed significantly more aggression than did hamsters receiving control injections. Thus, these data suggest that the activation of GABAA receptors in the LS increases aggression regardless of whether or not a hamster has previously experienced social defeat. PMID:22265703

  17. Early life stress impairs social recognition due to a blunted response of vasopressin release within the septum of adult male rats.

    PubMed

    Lukas, Michael; Bredewold, Remco; Landgraf, Rainer; Neumann, Inga D; Veenema, Alexa H

    2011-07-01

    Early life stress poses a risk for the development of psychopathologies characterized by disturbed emotional, social, and cognitive performance. We used maternal separation (MS, 3h daily, postnatal days 1-14) to test whether early life stress impairs social recognition performance in juvenile (5-week-old) and adult (16-week-old) male Wistar rats. Social recognition was tested in the social discrimination test and defined by increased investigation by the experimental rat towards a novel rat compared with a previously encountered rat. Juvenile control and MS rats demonstrated successful social recognition at inter-exposure intervals of 30 and 60 min. However, unlike adult control rats, adult MS rats failed to discriminate between a previously encountered and a novel rat after 60 min. The social recognition impairment of adult MS rats was accompanied by a lack of a rise in arginine vasopressin (AVP) release within the lateral septum seen during social memory acquisition in adult control rats. This blunted response of septal AVP release was social stimulus-specific because forced swimming induced a rise in septal AVP release in both control and MS rats. Retrodialysis of AVP (1 μg/ml, 3.3 μl/min, 30 min) into the lateral septum during social memory acquisition restored social recognition in adult MS rats at the 60-min interval. These studies demonstrate that MS impairs social recognition performance in adult rats, which is likely caused by blunted septal AVP activation. Impaired social recognition may be linked to MS-induced changes in other social behaviors like aggression as shown previously. PMID:21185124

  18. Atrial septum defect closure device in a beating heart, from the perspective of a researcher in artificial organs.

    PubMed

    Tomizawa, Yasuko

    2012-12-01

    Transcatheter closure of atrial septum defect (ASD) with a closure device is increasing, but the history of clinical use of this procedure is still short, and the efficacy and long-term safety remain unproved. The total number of closure devices implanted throughout the world has not been counted accurately. Therefore, the probability of complications occurring after implantation is uncertain. Device-related complications that occur suddenly late after implantation are life-threatening, and quite often necessitate emergency surgical intervention. In Japanese medical journals, authors reporting closure devices have mentioned no complications and problems in their facilities. Detailed studies of device-related complications and device removal have not been reported in Japan. In fact, this literature search found an unexpectedly large number of reports of various adverse events from many overseas countries. When follow-up duration is short and the number of patients is small, the incidence of complications cannot be determined. Rare complications may emerge in a large series with a long observation period. Consequently, the actual number of incidents related to ASD closure devices is possibly several times higher than the number reported. Guidelines for long-term patient management for patients with an implanted closure device are necessary and post-marketing surveillance is appropriate. Development of a national database, a worldwide registration system, and continuous information disclosure will improve the quality of treatment. The devices currently available are not ideal in view of reports of late complications requiring urgent surgery and the need for life-long follow-up. An ideal device should be free from complications during life, and reliability is indispensable. PMID:22729293

  19. Our experience with transcanalicular laser-assisted endoscopic dacryocystorhinostomy (TCLADCR) in patients of chronic dacryocystitis with deviated nasal septum.

    PubMed

    Goel, Ruchi; Nagpal, Smriti; Kumar, Sushil; Kamal, Saurabh; Dangda, Sonal; Bodh, Sonam Angmo

    2015-12-01

    The purpose of this study is to study the operative difficulties and success rate of transcanalicular laser-assisted endoscopic dacryocystorhinostomy in patients of chronic dacryocystitis with deviated nasal septum (DNS). A prospective interventional clinical study of 36 consecutive patients suffering from chronic dacryocystitis with nasolacrimal duct obstruction with DNS undergoing primary TCLADCR from March to June 2011 was carried out. Diode laser was used to create a 16-mm(2) ostium which was enlarged to 64 mm(2) using Blakesley's forceps. Success was defined as anatomical patency and absence of symptoms at 12 months of follow-up. Out of the 36 patients, 25 were females with ages 20-72 years, and 19 were left sided. There were 12 high, 12 mid and 12 basal DNS towards the side of surgery, mild to moderate in severity. Intraoperatively there was difficulty in visualising the aiming beam in the nose, tedious manipulation of endoscope and excessive bleeding in 3 patients. Increased bleeding and failures were significantly higher in high DNS (Fisher exact test-2 tailed: 0.0045). The procedure was successful in 94.4 % cases with average ostium size of 21.94 mm(2) at 12 months and no statistically significant difference in success rates between mild and moderate DNS (Fisher exact test-2 tailed: 1.000). Also there was no difference in the complication rate between mild and moderate DNS (Fisher exact test-2 tailed: 0.0841). TCLADCR is an effective procedure in patients with mild to moderate mid and basal DNS and obviates the need for multiple procedures and a cutaneous scar. PMID:25702037

  20. Injury to endoscopic personnel from tripping over exposed cords, wires, and tubing in the endoscopy suite: a preventable cause of potentially severe workplace injury.

    PubMed

    Cappell, Mitchell S

    2010-04-01

    BACKGROUND The endoscopy unit before remediation may be a high-risk area for slip and fall injuries due to a large number of exposed above-the-floor wires in the endoscopy rooms, dimmed lighting during endoscopic procedures, and staff inattention to obstacles due to preoccupation with the endoscopic patient. AIM To describe a novel, previously unappreciated workplace hazard to endoscopic personnel: Exposed wires in the endoscopy unit.METHODS This study is a retrospective review of 110,000 endoscopic procedures performed during the last 5 years at an academic, teaching hospital with a high-volume endoscopy unit. All significant orthopedic injuries to endoscopic personnel from slips, twists, and falls from tripping over exposed cords in the endoscopy unit were reviewed. The severity of injury was documented based on roentgenographic findings, number of days of missed work, number of days with a modified work schedule, and requirement for orthopedic surgery. The number of potentially exposed cords per endoscopy room was determined. RESULTS During the 5-year study period, three endoscopic personnel suffered significant orthopedic injuries from slips, twists, and falls from tripping over cords, wires, or tubing lying exposed over the floor in the endoscopy suite: The resulting injuries consisted of fourth and fifth metacarpal hand fractures due to a fall after tripping on oxygen tubing; a rib fracture due to tripping on electrical wires trailing from an endoscopy cart; and a grade II ankle sprain due to the foot becoming entangled in oxygen tubing. All injuries resulted in lost days of work [mean 9.3 +/- 11.0 (SD) days] and in additional days of restricted work (mean 41.7 +/- 31.8 days). One injury required orthopedic surgery. Hospital review revealed a mean of 35.3 +/- 7.5 cords, wires, or tubing per endoscopy procedure room, the majority of which were exposed above the floor before remediation (n = 10 rooms). Remediation of exposed wires included: bundling related

  1. An excitatory ventral hippocampus to lateral septum circuit that suppresses feeding.

    PubMed

    Sweeney, Patrick; Yang, Yunlei

    2015-01-01

    Previous research has focused on feeding circuits residing in the hindbrain and midbrain that govern homeostatic or hedonic control of food intake. However, the feeding circuits controlling emotional or cognitive aspects of food intake are largely unknown. Here we use chemical genetics and optogenetic techniques to dissect appetite control circuits originating from ventral hippocampus (vHPC), a brain region implicated in emotion and cognition. We find that the vHPC projects functional glutamatergic synaptic inputs to the lateral septum (LS) and optogenetic activation of vHPC projections in LS reduces food intake. Consistently, food intake is suppressed by chemogenetic activation of glutamatergic neurons in the vHPC that project to the LS and inactivation of LS neurons blunts vHPC-induced suppression of feeding. Collectively, our results identify an anorexigenic neural circuit originating from vHPC to LS in the brain, revealing a potential therapeutic target for the treatment of anorexia or other appetite disorders. PMID:26666960

  2. Extensive Chondrosarcoma of the Nasal Septum: Endoscopic Resection and Long-Term Follow-Up.

    PubMed

    Alqudah, Mohammad; Odat, Haitham; Issa, Ibrahim; Al-Qudah, Mohannad

    2016-06-01

    Chondrosarcoma of the nasal septum is extremely rare slow growing malignant tumor of nonepithelial origin. Preoperative differentiation between low-grade chondrosarcoma and benign cartilaginous tumors such as chondroma may be difficult. Surgical excision is the treatment of choice. Radiotherapy is reserved for residual or recurrent patients. Recent advance in endoscopic sinus surgery has allowed successful, noninvasive excision of many sinonasal tumors with low morbidity.The authors herein report, what we believe, the most extensive case of posterior nasal septal chondrosarcoma with the longest follow-up period that was completely excised endoscopically with no evidence of local or systemic recurrence after 5 years. The authors also discuss its relevant clinical presentation, diagnosis, and management. PMID:27192653

  3. Cardiac lipoma and lipomatous hypertrophy of the interatrial septum: cardiac magnetic resonance imaging findings.

    PubMed

    Salanitri, John C; Pereles, F Scott

    2004-01-01

    Cardiac lipomas are uncommon, usually asymptomatic benign primary tumors of the heart that may incidentally be discovered during computed tomography (CT) or magnetic resonance imaging (MRI). Although the finding of a low-attenuation mass with density similar to fat on CT is pathognomonic, the MRI appearances of fatty cardiac masses are variable depending on the sequences employed. The MRI findings of 4 patients with cardiac lipomas or lipomatous hypertrophy of the interatrial septum are presented. All patients had lesions with characteristic low-signal-intensity margins and high central signal intensity on "bright-blood" balanced gradient-echo cardiac MRI sequences with very low repetition and echo times. It is proposed that this appearance results from intravoxel phase cancellation effects occurring at the fat/tissue interface and is sufficiently characteristic to obviate the need for confirmatory CT. PMID:15538164

  4. Partial urorectal septum malformation sequence in a kitten with disorder of sexual development.

    PubMed

    Reynolds, Brice S; Pain, Amélie; Meynaud-Collard, Patricia; Nowacka-Woszuk, Joanna; Szczerbal, Izabela; Switonski, Marek; Chastant-Maillard, Sylvie

    2014-12-01

    A 2-month-old kitten exhibited simultaneously an imperforate anus, hypospadias, rectourethral fistula and genital dysgenesis (penis restricted to the glans, absence of prepuce and bifid scrotum). Surgical correction consisted of separation of the urinary and digestive tracts, perineal urethrostomy and connection of the rectum to the newly made anal opening. Pathological examination of the testes, conventionally removed at 9 months of age, showed no mature spermatozoa and underdevelopment of germ and Leydig cells. In humans, the absence of an anal opening in association with abnormal sexual development defines the urorectal septum malformation sequence. Here, we describe the first case of this syndrome in a kitten with a normal male karyotype (38,XY) and a normal coding sequence for the SRY gene. Both the rectourethral fistula and observed genital abnormalities might have been induced by a disturbance in the hedgehog signalling pathway. However, although four polymorphic sites were identified by DHH gene sequencing, none cosegregated with the malformation. PMID:24718294

  5. Theta oscillations regulate the speed of locomotion via a hippocampus to lateral septum pathway

    PubMed Central

    Bender, Franziska; Gorbati, Maria; Cadavieco, Marta Carus; Denisova, Natalia; Gao, Xiaojie; Holman, Constance; Korotkova, Tatiana; Ponomarenko, Alexey

    2015-01-01

    Hippocampal theta oscillations support encoding of an animal's position during spatial navigation, yet longstanding questions about their impact on locomotion remain unanswered. Combining optogenetic control of hippocampal theta oscillations with electrophysiological recordings in mice, we show that hippocampal theta oscillations regulate locomotion. In particular, we demonstrate that their regularity underlies more stable and slower running speeds during exploration. More regular theta oscillations are accompanied by more regular theta-rhythmic spiking output of pyramidal cells. Theta oscillations are coordinated between the hippocampus and its main subcortical output, the lateral septum (LS). Chemo- or optogenetic inhibition of this pathway reveals its necessity for the hippocampal regulation of running speed. Moreover, theta-rhythmic stimulation of LS projections to the lateral hypothalamus replicates the reduction of running speed induced by more regular hippocampal theta oscillations. These results suggest that changes in hippocampal theta synchronization are translated into rapid adjustment of running speed via the LS. PMID:26455912

  6. Theta oscillations regulate the speed of locomotion via a hippocampus to lateral septum pathway.

    PubMed

    Bender, Franziska; Gorbati, Maria; Cadavieco, Marta Carus; Denisova, Natalia; Gao, Xiaojie; Holman, Constance; Korotkova, Tatiana; Ponomarenko, Alexey

    2015-01-01

    Hippocampal theta oscillations support encoding of an animal's position during spatial navigation, yet longstanding questions about their impact on locomotion remain unanswered. Combining optogenetic control of hippocampal theta oscillations with electrophysiological recordings in mice, we show that hippocampal theta oscillations regulate locomotion. In particular, we demonstrate that their regularity underlies more stable and slower running speeds during exploration. More regular theta oscillations are accompanied by more regular theta-rhythmic spiking output of pyramidal cells. Theta oscillations are coordinated between the hippocampus and its main subcortical output, the lateral septum (LS). Chemo- or optogenetic inhibition of this pathway reveals its necessity for the hippocampal regulation of running speed. Moreover, theta-rhythmic stimulation of LS projections to the lateral hypothalamus replicates the reduction of running speed induced by more regular hippocampal theta oscillations. These results suggest that changes in hippocampal theta synchronization are translated into rapid adjustment of running speed via the LS. PMID:26455912

  7. Division genes in Escherichia coli are expressed coordinately to cell septum requirements by gearbox promoters.

    PubMed

    Aldea, M; Garrido, T; Pla, J; Vicente, M

    1990-11-01

    The cell division ftsQAZ cluster and the ftsZ-dependent bolA morphogene of Escherichia coli are found to be driven by gearboxes, a distinct class of promoters characterized by showing an activity that is inversely dependent on growth rate. These promoters contain specific sequences upstream from the mRNA start point, and their -10 region is essential for the inverse growth rate dependence. Gearbox promoters are essential for driving ftsQAZ and bolA gene expression so that the encoded products are synthesized at constant amounts per cell independently of cell size. This mode of regulation would be expected for the expression of proteins that either play a regulatory role in cell division or form a stoichiometric component of the septum, a structure that, independently of cell size and growth rate, is produced once per cell cycle. PMID:1698623

  8. A simple and fast technique for radiofrequency-assisted perforation of the atrial septum in congenital heart disease

    PubMed Central

    Sandoval, Juan Pablo; Chaturvedi, Rajiv R

    2016-01-01

    Radiofrequency (RF) assisted perforation of the atrial septum was performed successfully in three infants using a 0.035” RF wire deployed through a Williams right posterior catheter. Balloon atrial septoplasty was performed over the 0.035” RF wire in two of them, shortening the procedural time. PMID:27011690

  9. A simple and fast technique for radiofrequency-assisted perforation of the atrial septum in congenital heart disease.

    PubMed

    Sandoval, Juan Pablo; Chaturvedi, Rajiv R

    2016-01-01

    Radiofrequency (RF) assisted perforation of the atrial septum was performed successfully in three infants using a 0.035" RF wire deployed through a Williams right posterior catheter. Balloon atrial septoplasty was performed over the 0.035" RF wire in two of them, shortening the procedural time. PMID:27011690

  10. The presence of pacemaker HCN channels identifies theta rhythmic GABAergic neurons in the medial septum

    PubMed Central

    Varga, Viktor; Hangya, Balázs; Kránitz, Kinga; Ludányi, Anikó; Zemankovics, Rita; Katona, István; Shigemoto, Ryuichi; Freund, Tamás F; Borhegyi, Zsolt

    2008-01-01

    The medial septum (MS) is an indispensable component of the subcortical network which synchronizes the hippocampus at theta frequency during specific stages of information processing. GABAergic neurons exhibiting highly regular firing coupled to the hippocampal theta rhythm are thought to form the core of the MS rhythm-generating network. In recent studies the hyperpolarization-activated, cyclic nucleotide-gated non-selective cation (HCN) channel was shown to participate in theta synchronization of the medial septum. Here, we tested the hypothesis that HCN channel expression correlates with theta modulated firing behaviour of MS neurons by a combined anatomical and electrophysiological approach. HCN-expressing neurons represented a subpopulation of GABAergic cells in the MS partly overlapping with parvalbumin (PV)-containing neurons. Rhythmic firing in the theta frequency range was characteristic of all HCN-expressing neurons. In contrast, only a minority of HCN-negative cells displayed theta related activity. All HCN cells had tight phase coupling to hippocampal theta waves. As a group, PV-expressing HCN neurons had a marked bimodal phase distribution, whereas PV-immunonegative HCN neurons did not show group-level phase preference despite significant individual phase coupling. Microiontophoretic blockade of HCN channels resulted in the reduction of discharge frequency, but theta rhythmic firing was perturbed only in a few cases. Our data imply that HCN-expressing GABAergic neurons provide rhythmic drive in all phases of the hippocampal theta activity. In most MS theta cells rhythm genesis is apparently determined by interactions at the level of the network rather than by the pacemaking property of HCN channels alone. PMID:18565991

  11. [Comparison of long-term results of arterial switch and Senning procedure in transposition of great vessels with intact ventricular septum].

    PubMed

    Sousa Uva, M; Lacour-Gayet, F; Touchot-Koné, A; Serraf, A; Bruniaux, J; Losay, J; Houyel, L; Petit, J; Binet, J P; Planché, C

    1993-05-01

    One hundred and five survivors after the 30th day of complete cure of transposition of the great arteries with intact ventricular septum between 1980 and 1985 were followed up. Fifty-four had an arterial switch (AS) in a single stage at an average age of 10 +/- 9 days and 51 had Senning's procedure (S) at an average age of 4 +/- 2.5 months. The average follow-up (97% of patients) was 5.8 +/- 1.1 years for the AS group and 9.3 +/- 2.3 years for the S group. The actuarial survival at 5 years was 100% in the AS group and 85.8% in the S group (p < 0.01) (8 late deaths). In the AS group, 3 patients were reoperated for stenosis of the pulmonary artery and, in the S group, 4 patients underwent 6 reoperations. All but 3 patients in the S group and all but 1 patient in the AS group are in functional Class I of the NYHA classification. Doppler echocardiographic studies have shown mild to severe dysfunction of the systemic ventricle in 2% of the AS group and 26% of the S group (p < 0.001). Holter monitoring, performed in 70% of patients in the S group showed sinus node dysfunction in 60% and sinus rhythm in 40% of cases. In conclusion, good functional results were observed at over 5 years in both groups. However, the absence of late mortality and the minimal incidence of systemic ventricular dysfunction in the AS group confirm the authors' choice of indication of arterial switch for the treatment of transposition of the great arteries with intact ventricular septum. PMID:8257269

  12. Reproductive outcome after IVF following hysteroscopic division of incomplete uterine septum/arcuate uterine anomaly in women with primary infertility

    PubMed Central

    Abuzeid, M.; Ghourab, G.; Abuzeid, O.; Mitwally, M.; Ashraf, M.; Diamond, M.

    2014-01-01

    Objective: To determine reproductive outcome after in-vitro fertilization/embryo transfer (IVF-ET) in women with primary infertility following hysteroscopic septoplasty of incomplete uterine septum or arcuate uterine anomaly. Methods: This is a historical cohort study. The study group consisted of 156 consecutive patients who underwent a total of 221 cycles of IVF/ET following hysteroscopic septoplasty of an incomplete uterine septum or arcuate anomaly (Group 1). The control group included 196 consecutive patients with normal endometrial cavity on hysteroscopy who underwent a total of 369 cycles of IVF/ET (Group 2). The reproductive outcome after the first cycle of IVF-ET and the best reproductive outcome of all the cycles the patient underwent were calculated. In addition, we compared the reproductive outcome in the study group based on the type of the anomalies (septum versus arcuate). Results: In the first fresh cycle, following septoplasty, there were significantly higher clinical pregnancy and delivery rates in Group 1 (60.3% and 51.3% respectively) compared to Group 2 (38.8% and 33.2% respectively). However, there was no significant difference between the two groups in the clinical pregnancy (74.4% vs. 67.3%) or in the delivery (65.4% vs. 60.2%) rates per patient, respectively. There was no significant difference in the reproductive outcome after IVF-ET between patients who previously had arcuate uterine anomaly versus incomplete uterine septum. Conclusion: Reproductive outcome of IVF-ET after hysteroscopic correction of incomplete uterine septum/arcuate uterine anomaly in women with primary infertility is no different from women with normal uterine cavity. PMID:25593694

  13. Alcohol May Not Cause Partner Violence but It Seems to Make It Worse: A Cross National Comparison of the Relationship between Alcohol and Severity of Partner Violence

    ERIC Educational Resources Information Center

    Graham, Kathryn; Bernards, Sharon; Wilsnack, Sharon C.; Gmel, Gerhard

    2011-01-01

    This study assesses whether severity of physical partner aggression is associated with alcohol consumption at the time of the incident, and whether the relationship between drinking and aggression severity is the same for men and women and across different countries. National or large regional general population surveys were conducted in 13…

  14. Chronic rhino-orbital mucormycosis caused by Mucor irregularis (Rhizomucor variabilis) in India

    Technology Transfer Automated Retrieval System (TEKTRAN)

    We describe a chronic case of rhino-orbital zygomycosis caused by Mucor irregularis, formerly known as Rhizomucor variabilis var. variabilis, a rare mycotic agent in humans. The infection caused progressive destruction of the nasal septum, soft and hard palate, leading to collapse of the nose bridge...

  15. Sustained Oxidative Stress Causes Late Acute Renal Failure via Duplex Regulation on p38 MAPK and Akt Phosphorylation in Severely Burned Rats

    PubMed Central

    Cai, Xiaoqing; Wang, Dexin; Wu, Kaimin; Chen, Hongli; Li, Jia; Lei, Wei

    2013-01-01

    Background Clinical evidence indicates that late acute renal failure (ARF) predicts high mortality in severely burned patients but the pathophysiology of late ARF remains undefined. This study was designed to test the hypothesis that sustained reactive oxygen species (ROS) induced late ARF in a severely burned rat model and to investigate the signaling mechanisms involved. Materials and Methods Rats were exposed to 100°C bath for 15 s to induce severe burn injury (40% of total body surface area). Renal function, ROS generation, tubular necrosis and apoptosis, and phosphorylation of MAPK and Akt were measured during 72 hours after burn. Results Renal function as assessed by serum creatinine and blood urea nitrogen deteriorated significantly at 3 h after burn, alleviated at 6 h but worsened at 48 h and 72 h, indicating a late ARF was induced. Apoptotic cells and cleavage caspase-3 in the kidney went up slowly and turned into significant at 48 h and 72 h. Tubular cell ROS production shot up at 6 h and continuously rose during the 72-h experiment. Scavenging ROS with tempol markedly attenuated tubular apoptosis and renal dysfunction at 72 h after burn. Interestingly, renal p38 MAPK phosphorylation elevated in a time dependent manner whereas Akt phosphorylation increased during the first 24 h but decreased at 48 h after burn. The p38 MAPK specific inhibitor SB203580 alleviated whereas Akt inhibitor exacerbated burn-induced tubular apoptosis and renal dysfunction. Furthermore, tempol treatment exerted a duplex regulation through inhibiting p38 MAPK phosphorylation but further increasing Akt phosphorylation at 72 h postburn. Conclusions These results demonstrate that sustained renal ROS overproduction induces continuous tubular cell apoptosis and thus a late ARF at 72 h after burn in severely burned rats, which may result from ROS-mediated activation of p38 MAPK but a late inhibition of Akt phosphorylation. PMID:23349934

  16. Prenatal choline deficiency increases choline transporter expression in the septum and hippocampus during postnatal development and in adulthood in rats.

    PubMed

    Mellott, Tiffany J; Kowall, Neil W; Lopez-Coviella, Ignacio; Blusztajn, Jan Krzysztof

    2007-06-01

    Supplementation of maternal diet with the essential nutrient, choline, during the second half of pregnancy in rats causes long-lasting improvements in spatial memory in the offspring and protects them from the memory decline characteristic of old age. In contrast, prenatal choline deficiency is associated with poor performance in certain cognitive tasks. The mechanism by which choline influences learning and memory remains unclear; however, it may involve changes to the hippocampal cholinergic system. Previously, we showed that the hippocampi of prenatally [embryonic days (E) 11-17] choline-deficient animals have increased synthesis of acetylcholine (ACh) from choline transported by the high-affinity choline transporter (CHT) and reduced ACh content relative to the control and to the E11-17 choline-supplemented rats. In the current study, we found that, during postnatal period [postnatal days (P) 18-480], prenatal choline deficiency increased the expression of CHT mRNA in the septum and CHT mRNA and protein levels in the hippocampus and altered the pattern of CHT immunoreactivity in the dentate gyrus. CHT immunoreactivity was more prominent in the inner molecular layer in prenatally choline-deficient rats compared to controls and prenatally choline-supplemented animals. In addition, in all groups, we observed a population of hilar interneurons that were CHT-immunoreactive. These neurons are the likely source of the hippocampal CHT mRNA as their number correlated with the levels of this mRNA. The abundance of hippocampal CHT mRNA rose between P1 and P24 and then declined reaching 60% of the P1 value by P90. These data show that prenatal availability of choline alters its own metabolism (i.e., CHT expression). While the upregulated CHT expression during the period of prenatal choline deficiency may be considered as a compensatory mechanism that could enhance ACh synthesis when choline supply is low, the persistent upregulation of CHT expression subsequent to the

  17. Extracardiac septum transversum/proepicardial endothelial cells pattern embryonic coronary arterio-venous connections.

    PubMed

    Cano, Elena; Carmona, Rita; Ruiz-Villalba, Adrián; Rojas, Anabel; Chau, You-Ying; Wagner, Kay D; Wagner, Nicole; Hastie, Nicholas D; Muñoz-Chápuli, Ramón; Pérez-Pomares, José M

    2016-01-19

    Recent reports suggest that mammalian embryonic coronary endothelium (CoE) originates from the sinus venosus and ventricular endocardium. However, the contribution of extracardiac cells to CoE is thought to be minor and nonsignificant for coronary formation. Using classic (Wt1(Cre)) and previously undescribed (G2-Gata4(Cre)) transgenic mouse models for the study of coronary vascular development, we show that extracardiac septum transversum/proepicardium (ST/PE)-derived endothelial cells are required for the formation of ventricular coronary arterio-venous vascular connections. Our results indicate that at least 20% of embryonic coronary arterial and capillary endothelial cells derive from the ST/PE compartment. Moreover, we show that conditional deletion of the ST/PE lineage-specific Wilms' tumor suppressor gene (Wt1) in the ST/PE of G2-Gata4(Cre) mice and in the endothelium of Tie2(Cre) mice disrupts embryonic coronary transmural patterning, leading to embryonic death. Taken together, our results demonstrate that ST/PE-derived endothelial cells contribute significantly to and are required for proper coronary vascular morphogenesis. PMID:26739565

  18. Visualization and functional dissection of coaxial paired SpoIIIE channels across the sporulation septum

    DOE PAGESBeta

    Shin, Jae Yen; Lopez-Garrido, Javier; Lee, Sang-Hyuk; Diaz-Celis, Cesar; Fleming, Tinya; Bustamante, Carlos; Pogliano, Kit

    2015-05-07

    SpoIIIE is a membrane-anchored DNA translocase that localizes to the septal midpoint to mediate chromosome translocation and membrane fission during Bacillus subtilis sporulation. Here we use cell-specific protein degradation and quantitative photoactivated localization microscopy in strains with a thick sporulation septum to investigate the architecture and function of the SpoIIIE DNA translocation complex in vivo. We were able to visualize SpoIIIE complexes with approximately equal numbers of molecules in the mother cell and the forespore. Cell-specific protein degradation showed that only the mother cell complex is required to translocate DNA into the forespore, whereas degradation in either cell reversesmore » membrane fission. Our data suggest that SpoIIIE assembles a coaxially paired channel for each chromosome arm comprised of one hexamer in each cell to maintain membrane fission during DNA translocation. We show that SpoIIIE can operate, in principle, as a bi-directional motor that exports DNA.« less

  19. Interventricular Septum Hydatid Cyst: Successful Seven-Year Follow Up- Case Report

    PubMed Central

    MIRZAIE, Asadollah; ERFANIAN-TAGHVAEI, Majid Reza; MIRZAIE, Maryam; SHARIFI-NOGHABI, Reza

    2014-01-01

    Abstract Hydatid cyst disease should be considered in differential diagnosis in many doubtful clinical situations as can present with non-specific symptoms especially in the endemic areas. Cardiac involvement should be considered in patients with history of previous hydatid cyst disease.. Cardiac hydatid cysts account for less than 2% of all hydatid diseases. In this report we aimed to present a case of 14-year-old boy with the diagnosis of occlusion of artery of the right lower extremity. Surgical exploration of the femoral artery revealed multiple hydatid cysts. Echocardiography showed a mobile mixed mass lesion. Complete resection of the mass was done from interventricular septum. Histo-pathological examination of the removed tissue revealed a complicated hydatid cyst and complete mass excision was confirmed. In this case a 7 year clinical and serological tests evaluation follow-up after surgical treatment showed no evidence of recurrence. The finding of this case emphasizes that in endemic countries, primary cardiovascular echino-coccosis should be considered in differential diagnosis. PMID:26175985

  20. Adhesio interthalamica and cavum septum pellucidum in mesial temporal lobe epilepsy.

    PubMed

    Trzesniak, Clarissa; Linares, Ila M; Coimbra, Érica R; Júnior, Alexandre Veriano; Velasco, Tonicarlo R; Santos, Antonio C; Hallak, Jaime E; Sakamoto, Americo C; Busatto, Geraldo F; Crippa, José A

    2016-09-01

    The absence of the adhesio interthalamica (AI; also called interthalamic adhesion or massa intermedia) and the presence of a large cavum septum pellucidum (CSP) later in life have been related to neurodevelopmental alterations and have not been systematically investigated in epilepsy to date. This study carried out a MRI evaluation of the AI and CSP in a large sample with mesial temporal lobe epilepsy (MTLE). A total of 179 patients, classified according to the side of the epileptogenic focus, and 156 age- and sex-balanced healthy controls were assessed. Between-group comparisons of the prevalence and length of both AI and CSP were conducted. Neuropsychological assessments were also performed in 160 MTLE patients. The patients exhibited reduction in the AI prevalence (P < 0.05; FDR-uncorrected) and length (P < 0.05; FDR-corrected) when compared to controls. Patients without AI showed lower scores in a proportion of neuropsychological tests than patients with AI. No CSP differences were found between MTLE patients and controls. These results support that AI anomalies have clinical significance in MTLE, as well as indicate that neurodevelopmental alterations may be implicated in this disorder. PMID:26497889

  1. Novel technique for injecting and extracting beams in a circular hadron accelerator without using septum magnets

    NASA Astrophysics Data System (ADS)

    Franchi, Andrea; Giovannozzi, Massimo

    2015-07-01

    With a few exceptions, all on-axis injection and extraction schemes implemented in circular particle accelerators, synchrotrons, and storage rings, make use of magnetic and electrostatic septa with systems of slow-pulsing dipoles acting on tens of thousands of turns and fast-pulsing dipoles on just a few. The dipoles create a closed orbit deformation around the septa, usually referred to as an orbit bump. A new approach is presented which obviates the need for the septum deflectors. Fast-pulsing elements are still required, but their strength can be minimized by choosing appropriate local accelerator optics. This technique should increase the beam clearance and reduce the usually high radiation levels found around the septa and also reduce the machine impedance introduced by the fast-pulsing dipoles. The basis of the technique is the creation of stable islands around stable fixed points in horizontal phase space. The trajectories of these islands may then be adjusted to match the position and angle of the incoming or outgoing beam.

  2. Platypnea-Orthodeoxia Syndrome Two Decades after Definitive Surgical Repair of Pulmonary Atresia with Intact Ventricular Septum

    PubMed Central

    Chiu, Ing-Sh

    2016-01-01

    A 20-year-old female had undergone definitive surgical repair for pulmonary atresia with intact ventricular septum soon after birth. She was referred to our institution with the chief complaint of clubbing fingers. A thorough examination revealed platypnea-orthodeoxia syndrome due to an interatrial right-to-left shunt through a secundum atrial septal defect. Percutaneous closure with an Amplatzer Septal Occluder resulted in resolution of the syndrome. PMID:26996585

  3. Nasal tip support: A finite element analysis of the role of the caudal septum during tip depression

    PubMed Central

    Manuel, Cyrus T.; Leary, Ryan; Protsenko, Dmitriy E.; Wong, Brian J.F.

    2014-01-01

    Objective/Hypothesis Although minor and major tip support mechanisms have been described in detail, no quantitative models exist to provide support for the relative contributions of the structural properties of the major alar cartilage, the fibrous attachments to surrounding structures, and the rigid support structures in an objective manner. Study Design The finite element method was used to compute the stress distribution in the nose during simple tip compression, and then identify the specific anatomic structures that resist deformation and thus contribute to “tip support”. Additionally, the impact of caudal septal resection on nasal tip support was examined. Method The computer models consisted of three tissue components with anatomically correct geometries for skin and bone derived from CT data. Septum, upper lateral cartilages, and major alar cartilages were fitted within the model using 3D CAD software. 5mm nasal tip compression was performed on the models with caudal septal resection (3mm and 5 mm) and without resection to simulate palpation, then the resulting spatial distribution of stress and displacement was calculated. Results The von Mises stress in the normal model was primarily concentrated along medial crural angle. As caudal septum length was reduced, stress was redistributed to adjacent soft tissue and bone, resulting in less force acting on the septum. In all models, displacement was greatest near the intermediate crura. Conclusions These models are the first step in the comprehensive mechanical analysis of nasal tip dynamics. Our model supports the concept of the caudal septum and major alar cartilage as providing the majority of critical load-bearing support. Level of Evidence N/A PMID:23878007

  4. Echocardiography-guided percutaneous per-ventricular laser ablation of ventricular septum: in vivo study in a canine model.

    PubMed

    He, Guangbin; Sun, Chao; Zhang, Xiangkong; Zuo, Lei; Qin, Haiying; Zheng, Minjuan; Zhou, Xiaodong; Liu, Liwen

    2016-05-01

    Surgical myectomy and ethanol ablation are established intervention strategies for left ventricular outflow obstruction in hypertrophic cardiomyopathy. Safety and efficacy limitations of these interventions call for a minimally invasive, potentially safer, and more efficacious strategy. In this study, we aimed to evaluate the feasibility of echocardiography-guided percutaneous per-ventricular laser ablation of a ventricular septum in a canine model. Six domestic dogs were chosen for the study. A 21G needle was inserted into the right ventricle with its tip reaching the targeted basal to mid-septum, after which laser ablation was performed as follows: 1-W laser for 3 min (180 J) at the basal segment and 5 min (300 J) at middle segment of the septum, respectively. Echocardiography, blood chemistry tests, and pathology examination were performed to assess the results of laser ablation. No death or major complications, i.e., tamponade, pericardial effusion, or ventricular fibrillation, occurred. The laser-ablated areas were well demarcated in the results of the pathological examination. The diameters of the ablated regions were 4.42 ± 0.57 and 5.28 ± 0.83 mm for 3 and 5 min ablation, respectively. Pre-ablation and post-ablation, cardiac enzymes were found to increase significantly while no significant differences were found among M-mode, 2D (LVEF), pulsed-wave (PW) Doppler, and tissue Doppler imaging (TDI) measurements. Contrast echocardiography confirmed the perfusion defects in the ablated regions. Microscopically, the ablated myocardium showed coagulative changes and a sparse distribution of disappearing nuclei and an increase in eosinophil number were observed. Our study suggests that percutaneous and per-ventricular laser ablation of the septum is feasible, potentially safe and efficacious, and warrants further investigation and validation. PMID:26861985

  5. Increased metabolic activity in the septum and habenula during stress is linked to subsequent expression of learned helplessness behavior

    PubMed Central

    Mirrione, Martine M.; Schulz, Daniela; Lapidus, Kyle A. B.; Zhang, Samuel; Goodman, Wayne; Henn, Fritz A.

    2013-01-01

    Uncontrollable stress can have a profound effect on an organism's ability to respond effectively to future stressful situations. Behavior subsequent to uncontrollable stress can vary greatly between individuals, falling on a spectrum between healthy resilience and maladaptive learned helplessness. It is unclear whether dysfunctional brain activity during uncontrollable stress is associated with vulnerability to learned helplessness; therefore, we measured metabolic activity during uncontrollable stress that correlated with ensuing inability to escape future stressors. We took advantage of small animal positron emission tomography (PET) and 2-deoxy-2[18F]fluoro-D-glucose (18FDG) to probe in vivo metabolic activity in wild type Sprague Dawley rats during uncontrollable, inescapable, unpredictable foot-shock stress, and subsequently tested the animals response to controllable, escapable, predictable foot-shock stress. When we correlated metabolic activity during the uncontrollable stress with consequent behavioral outcomes, we found that the degree to which animals failed to escape the foot-shock correlated with increased metabolic activity in the lateral septum and habenula. When used a seed region, metabolic activity in the habenula correlated with activity in the lateral septum, hypothalamus, medial thalamus, mammillary nuclei, ventral tegmental area, central gray, interpeduncular nuclei, periaqueductal gray, dorsal raphe, and rostromedial tegmental nucleus, caudal linear raphe, and subiculum transition area. Furthermore, the lateral septum correlated with metabolic activity in the preoptic area, medial thalamus, habenula, interpeduncular nuclei, periaqueductal gray, dorsal raphe, and caudal linear raphe. Together, our data suggest a group of brain regions involved in sensitivity to uncontrollable stress involving the lateral septum and habenula. PMID:24550809

  6. Report of 15 injuries caused by lionfish (pterois volitans) in aquarists in Brazil: a critical assessment of the severity of envenomations.

    PubMed

    Haddad, Vidal; Stolf, Hamilton Ometto; Risk, José Yamin; França, Francisco Os; Cardoso, João Luiz Costa

    2015-01-01

    Lionfish are venomous fish that belong to the Scorpaenidae family. Individuals of this family and those of the Synanceiidae family comprise most of the existing venomous fish in the world. Lionfish are originally found in the Indo-Pacific, but they have received special attention in the last years for their dissemination in the Atlantic Ocean, with the emergence of large populations in the USA, Caribbean and South America. Because of its beauty, this fish has always been present in private and commercial aquariums around the world. Herein, we describe 15 envenomations in aquarists registered in a period of eighteen years (1997-2014). The stings caused excruciating pain and marked inflammation, with local erythema, edema, heat, paleness and cyanosis. In one case, it was possible to observe vesicles and blisters. There were no skin necroses or marked systemic manifestations. We discuss the possible coming of the fish to South America and the circumstances and clinical impact of the envenomations. PMID:25810712

  7. Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease

    PubMed Central

    Joshi, Mugdha; Anselm, Irina; Shi, Jiahai; Bale, Tejus A.; Towne, Meghan; Schmitz-Abe, Klaus; Crowley, Laura; Giani, Felix C.; Kazerounian, Shideh; Markianos, Kyriacos; Lidov, Hart G.; Folkerth, Rebecca; Sankaran, Vijay G.; Agrawal, Pankaj B.

    2016-01-01

    We describe a large Lebanese family with two affected members, a young female proband and her male cousin, who had multisystem involvement including profound global developmental delay, severe hypotonia and weakness, respiratory insufficiency, blindness, and lactic acidemia—findings consistent with an underlying mitochondrial disorder. Whole-exome sequencing was performed on DNA from the proband and both parents. The proband and her cousin carried compound heterozygous mutations in the PMPCA gene that encodes for α-mitochondrial processing peptidase (α-MPP), a protein likely involved in the processing of mitochondrial proteins. The variants were located close to and postulated to affect the substrate binding glycine-rich loop of the α-MPP protein. Functional assays including immunofluorescence and western blot analysis on patient's fibroblasts revealed that these variants reduced α-MPP levels and impaired frataxin production and processing. We further determined that those defects could be rescued through the expression of exogenous wild-type PMPCA cDNA. Our findings link defective α-MPP protein to a severe mitochondrial disease. PMID:27148589

  8. [Hypopotassemia and prolongation of the Q-T interval in a patient with severe malnutrition caused by bulimia and post-prandial vomiting].

    PubMed

    Contaldo, F; Di Paolo, M R; Mazzacano, C; Di Biase, G; Giumetti, D

    1990-04-01

    Patient L.A. (f., 20 yrs), affected by bulimia and self-induced vomiting, was hospitalized because of severe malnutrition (BMI 13.1), hypopotassemia (2.8 mEq/l) and prolonged QTc interval (0.469"). Intensive care treatment aimed to normalize mineral balance mainly serum potassium, consisted of administering e.v. potassium (mg 2346/day), magnesium (mg 72/day), calcium (mg 80/day), phosphorus (mg 769/day), chloride (mg 710/day), iron (mg 40/day). Dietary treatment was deliberately chosen to be slightly above minimum energy requirements in order to avoid possible side effects of forced hyperalimentation. The patient, immediately after hospitalization, interrupted vomiting and 2 wks later weight increased by 5 kg (from 34.9 kg to 40.0 kg). On the other hand normalization of serum potassium levels was slow and QTc interval reached normal range only after the 10th day of treatment (0.447"). This case supports the hypothesis that major ECG abnormalities may be present in severe malnutrition due to anorexia nervosa or bulimia with self-induced vomiting. The dangers of these complications were substantiated by the fact that intensive care treatment allowed prompt body weight recovery but normalization of electrolytic balance and cardiac function was very slow. For such patients, electrocardiographic monitoring should be routine. PMID:2377804

  9. Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency.

    PubMed

    van Wijk, Richard; van Solinge, Wouter W; Nerlov, Claus; Beutler, Ernest; Gelbart, Terri; Rijksen, Gert; Nielsen, Finn C

    2003-02-15

    We established the molecular basis for pyruvate kinase (PK) deficiency in a white male patient with severe nonspherocytic hemolytic anemia. The paternal allele exhibited the common PKLR cDNA sequence (c.) 1529G>A mutation, known to be associated with PK deficiency. On the maternal allele, 3 in cis mutations were identified in the erythroid-specific promoter region of the gene: one deletion of thymine -248 and 2 single nucleotide substitutions, nucleotide (nt) -324T>A and nt -83G>C. Analysis of the patient's RNA demonstrated the presence of only the 1529A allele, indicating severely reduced transcription from the allele linked to the mutated promoter region. Transfection of promoter constructs into erythroleukemic K562 cells showed that the most upstream -324T>A and -248delT mutations were nonfunctional polymorphisms. In contrast, the -83G>C mutation strongly reduced promoter activity. Site-directed mutagenesis of the promoter region revealed the presence of a putative regulatory element (PKR-RE1) whose core binding motif, CTCTG, is located between nt -87 and nt -83. Electrophoretic mobility shift assay using K562 nuclear extracts indicated binding of an as-yet-unidentified trans-acting factor. This novel element mediates the effects of factors necessary for regulation of pyruvate kinase gene expression during red cell differentiation and maturation. PMID:12393511

  10. Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.

    PubMed

    Joshi, Mugdha; Anselm, Irina; Shi, Jiahai; Bale, Tejus A; Towne, Meghan; Schmitz-Abe, Klaus; Crowley, Laura; Giani, Felix C; Kazerounian, Shideh; Markianos, Kyriacos; Lidov, Hart G; Folkerth, Rebecca; Sankaran, Vijay G; Agrawal, Pankaj B

    2016-05-01

    We describe a large Lebanese family with two affected members, a young female proband and her male cousin, who had multisystem involvement including profound global developmental delay, severe hypotonia and weakness, respiratory insufficiency, blindness, and lactic acidemia-findings consistent with an underlying mitochondrial disorder. Whole-exome sequencing was performed on DNA from the proband and both parents. The proband and her cousin carried compound heterozygous mutations in the PMPCA gene that encodes for α-mitochondrial processing peptidase (α-MPP), a protein likely involved in the processing of mitochondrial proteins. The variants were located close to and postulated to affect the substrate binding glycine-rich loop of the α-MPP protein. Functional assays including immunofluorescence and western blot analysis on patient's fibroblasts revealed that these variants reduced α-MPP levels and impaired frataxin production and processing. We further determined that those defects could be rescued through the expression of exogenous wild-type PMPCA cDNA. Our findings link defective α-MPP protein to a severe mitochondrial disease. PMID:27148589

  11. Orthodontic Treatment of Maxillary Incisors with Severe Root Resorption Caused by Bilateral Canine Impaction in a Class II Division 1 Patient.

    PubMed

    Chang, Na-Young; Park, Jae Hyun; Lee, Mi-Young; Cho, Jin-Woo; Cho, Jin-Hyoung; An, Ki-Yong; Chae, Jong-Moon

    2016-01-01

    This case report shows the successful alignment of bilateral impacted maxillary canines. A 12-year-old male with the chief complaint of the protrusion of his maxillary anterior teeth happened to have bilateral maxillary canine impaction on the labial side of his maxillary incisors. Four maxillary incisors showed severe root resorption because of the impacted canines. The patient was diagnosed as skeletal Class II malocclusion with proclined maxillary incisors. The impacted canine was carefully retracted using sectional buccal arch wires to avoid further root resorption of the maxillary incisors. To distalize the maxillary dentition, two palatal miniscrews were used. After 25 months of treatment, the maxillary canines were well aligned without any additional root resorption of the maxillary incisors. PMID:26950820

  12. Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

    PubMed Central

    Van Maldergem, Lionel; Hou, Qingming; Kalscheuer, Vera M.; Rio, Marlène; Doco-Fenzy, Martine; Medeira, Ana; de Brouwer, Arjan P.M.; Cabrol, Christelle; Haas, Stefan A.; Cacciagli, Pierre; Moutton, Sébastien; Landais, Emilie; Motte, Jacques; Colleaux, Laurence; Bonnet, Céline; Villard, Laurent; Dupont, Juliette; Man, Heng-Ye

    2013-01-01

    Existence of a discrete new X-linked intellectual disability (XLID) syndrome due to KIAA2022 deficiency was questioned by disruption of KIAA2022 by an X-chromosome pericentric inversion in a XLID family we reported in 2004. Three additional families with likely pathogenic KIAA2022 mutations were discovered within the frame of systematic parallel sequencing of familial cases of XLID or in the context of routine array-CGH evaluation of sporadic intellectual deficiency (ID) cases. The c.186delC and c.3597dupA KIAA2022 truncating mutations were identified by X-chromosome exome sequencing, while array CGH discovered a 70 kb microduplication encompassing KIAA2022 exon 1 in the third family. This duplication decreased KIAA2022 mRNA level in patients' lymphocytes by 60%. Detailed clinical examination of all patients, including the two initially reported, indicated moderate-to-severe ID with autistic features, strabismus in all patients, with no specific dysmorphic features other than a round face in infancy and no structural brain abnormalities on magnetic resonance imaging (MRI). Interestingly, the patient with decreased KIAA2022 expression had only mild ID with severe language delay and repetitive behaviors falling in the range of an autism spectrum disorder (ASD). Since little is known about KIAA2022 function, we conducted morphometric studies in cultured rat hippocampal neurons. We found that siRNA-mediated KIAA2022 knockdown resulted in marked impairment in neurite outgrowth including both the dendrites and the axons, suggesting a major role for KIAA2022 in neuron development and brain function. PMID:23615299

  13. A Severe Accident Caused by an Ocellate River Stingray (Potamotrygon motoro) in Central Brazil: How Well Do We Really Understand Stingray Venom Chemistry, Envenomation, and Therapeutics?

    PubMed Central

    da Silva, Nelson Jorge; Clementino Ferreira, Kalley Ricardo; Leite Pinto, Raimundo Nonato; Aird, Steven Douglas

    2015-01-01

    Freshwater stingrays cause many serious human injuries, but identification of the offending species is uncommon. The present case involved a large freshwater stingray, Potamotrygon motoro (Chondrichthyes: Potamotrygonidae), in the Araguaia River in Tocantins, Brazil. Appropriate first aid was administered within ~15 min, except that an ice pack was applied. Analgesics provided no pain relief, although hot compresses did. Ciprofloxacin therapy commenced after ~18 h and continued seven days. Then antibiotic was suspended; however, after two more days and additional tests, cephalosporin therapy was initiated, and proved successful. Pain worsened despite increasingly powerful analgesics, until debridement of the wound was performed after one month. The wound finally closed ~70 days after the accident, but the patient continued to have problems wearing shoes even eight months later. Chemistry and pharmacology of Potamotrygon venom and mucus, and clinical management of freshwater stingray envenomations are reviewed in light of the present case. Bacterial infections of stingray puncture wounds may account for more long-term morbidity than stingray venom. Simultaneous prophylactic use of multiple antibiotics is recommended for all but the most superficial stingray wounds. Distinguishing relative contributions of venom, mucus, and bacteria will require careful genomic and transcriptomic investigations of stingray tissues and contaminating bacteria. PMID:26094699

  14. Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse.

    PubMed

    Curtin, John A; Quint, Elizabeth; Tsipouri, Vicky; Arkell, Ruth M; Cattanach, Bruce; Copp, Andrew J; Henderson, Deborah J; Spurr, Nigel; Stanier, Philip; Fisher, Elizabeth M; Nolan, Patrick M; Steel, Karen P; Brown, Steve D M; Gray, Ian C; Murdoch, Jennifer N

    2003-07-01

    We identified two novel mouse mutants with abnormal head-shaking behavior and neural tube defects during the course of independent ENU mutagenesis experiments. The heterozygous and homozygous mutants exhibit defects in the orientation of sensory hair cells in the organ of Corti, indicating a defect in planar cell polarity. The homozygous mutants exhibit severe neural tube defects as a result of failure to initiate neural tube closure. We show that these mutants, spin cycle and crash, carry independent missense mutations within the coding region of Celsr1, encoding a large protocadherin molecule [1]. Celsr1 is one of three mammalian homologs of Drosophila flamingo/starry night, which is essential for the planar cell polarity pathway in Drosophila together with frizzled, dishevelled, prickle, strabismus/van gogh, and rhoA. The identification of mouse mutants of Celsr1 provides the first evidence for the function of the Celsr family in planar cell polarity in mammals and further supports the involvement of a planar cell polarity pathway in vertebrate neurulation. PMID:12842012

  15. Muscle-specific overexpression of lipoprotein lipase causes a severe myopathy characterized by proliferation of mitochondria and peroxisomes in transgenic mice.

    PubMed Central

    Levak-Frank, S; Radner, H; Walsh, A; Stollberger, R; Knipping, G; Hoefler, G; Sattler, W; Weinstock, P H; Breslow, J L; Zechner, R

    1995-01-01

    In extrahepatic tissues lipoprotein lipase (LPL) hydrolyzes triglycerides thereby generating FFA for tissue uptake and metabolism. To study the effects of increased FFA uptake in muscle tissue, transgenic mouse lines were generated with a human LPL minigene driven by the promoter of the muscle creatine kinase gene. In these mice human LPL was expressed in skeletal muscle and cardiac muscle, but not in other tissues. In proportion to the level of LPL overexpression, decreased plasma triglyceride levels, elevated FFA uptake by muscle tissue, weight loss, and premature death were observed in three independent transgenic mouse lines. The animals developed a severe myopathy characterized by muscle fiber degeneration, fiber atrophy, glycogen storage, and extensive proliferation of mitochondria and peroxisomes. This degree of proliferation suggests that FFA play an important role in the biogenesis of these organelles. Our experiments indicate that LPL is rate limiting for the supply of muscle tissue with triglyceride-derived FFA. Improper regulation of muscle LPL can lead to major pathological changes and may be important in the pathogenesis of some human myopathies. Muscle-specific LPL transgenic mouse lines will serve as a useful animal model for the investigation of myopathies and the biogenesis of mitochondria and peroxisomes. Images PMID:7635990

  16. The quantum yield of CO2 fixation is reduced for several minutes after prior exposure to darkness. Exploration of the underlying causes.

    PubMed

    Kirschbaum, M U F; Oja, V; Laisk, A

    2005-01-01

    Previous work has shown that the apparent quantum yield of CO2 fixation can be reduced for up to several minutes after prior exposure to darkness. In the work reported here, we investigated this phenomenon more fully and have deduced information about the underlying processes. This was done mainly by concurrent measurements of O2 and CO2 exchange in an oxygen-free atmosphere. Measurements of O2 evolution indicated that photochemical efficiency was not lost through dark adaptation, and that O2 evolution could proceed immediately at high rates provided that there were reducible pools of photosynthetic intermediates. Part of the delay in reaching the full quantum yield of CO2 fixation could be attributed to the need to build up pools of photosynthetic intermediates to high enough levels to support steady rates of CO2 fixation. There was no evidence that Rubisco inactivation contributed towards delayed CO2 uptake (under measurement conditions of low light). However, we obtained evidence that an enzyme in the reaction path between triose phosphates and RuBP must become completely inactivated in the dark. As a consequence, in dark-adapted leaves, a large amount of triose phosphates were exported from the chloroplast over the first minute of light rather than being converted to RuBP for CO2 fixation. That pattern was not observed if the pre-incubation light level was increased to just 3-5 micromol quanta m(-2) s(-1). The findings from this work underscore that there are fundamental differences in enzyme activation between complete darkness and even a very low light level of only 3-5 micromol quanta m(-2) s(-1) which predispose leaves to different gas exchange patterns once leaves are transferred to higher light levels. PMID:15666215

  17. Spectrum of Etiologies Causing Hydrometrocolpos

    PubMed Central

    Kurt, Gökmen; Sahin, Ceyhan; Cici, Inanç

    2013-01-01

    Background: Hydrometrocolpos (HMC) develops as a result of vaginal outflow obstruction and the accumulation of secretions. It might be secondary to persistent cloaca, urogenital sinus, some syndromes, presence of the vaginal septum, vaginal atresia, and imperforate hymen. Each of them has different treatment options and follow-up protocols. This study was performed to identify the etiology and the related management of patients with HMC. Materials and Methods: A descriptive series of patients with HMC managed in our hospital between 2004 and 2011 is being presented. The medical record of these patients was analyzed for etiology, management, and outcome. Results: Eight patients with HMC were managed during 7 years at our department. Underlying etiologies included urogenital sinus (n=3), and 1 each of imperforate hymen, transverse vaginal septum, Herlyn-Werner-Wunderlich syndrome, persistent cloaca, and a variant of the cloaca. Four patients were prenatally diagnosed. The patient with imperforate hymen was managed successfully with incision and drainage. Abdominal vaginostomy was done in three patients with urogenital sinus as initial procedure. In patient with persistent cloaca, a colostomy and abdominal vaginostomy were performed. Patient with cloaca variant died due to persistent acidosis and salt wasting. Conclusion: HMC may have different etiological factors which may dictate different surgical management. Etiology of HMC can be as simple as imperforate hymen to the most severe cloacal malformations. PMID:26023425

  18. Neuroanatomy and sex differences of the lordosis-inhibiting system in the lateral septum

    PubMed Central

    Tsukahara, Shinji; Kanaya, Moeko; Yamanouchi, Korehito

    2014-01-01

    Female sexual behavior in rodents, termed lordosis, is controlled by facilitatory and inhibitory systems in the brain. It has been well demonstrated that a neural pathway from the ventromedial hypothalamic nucleus (VMN) to the midbrain central gray (MCG) is essential for facilitatory regulation of lordosis. The neural pathway from the arcuate nucleus to the VMN, via the medial preoptic nucleus, in female rats mediates transient suppression of lordosis, until female sexual receptivity is induced. In addition to this pathway, other regions are involved in inhibitory regulation of lordosis in female rats. The lordosis-inhibiting systems exist not only in the female brain but also in the male brain. The systems contribute to suppression of heterotypical sexual behavior in male rats, although they have the potential ability to display lordosis. The lateral septum (LS) exerts an inhibitory influence on lordosis in both female and male rats. This review focuses on the neuroanatomy and sex differences of the lordosis-inhibiting system in the LS. The LS functionally and anatomically links to the MCG to exert suppression of lordosis. Neurons of the intermediate part of the LS (LSi) serve as lordosis-inhibiting neurons and project axons to the MCG. The LSi-MCG neural connection is sexually dimorphic, and formation of the male-like LSi-MCG neural connection is affected by aromatized testosterone originating from the testes in the postnatal period. The sexually dimorphic LSi-MCG neural connection may reflect the morphological basis of sex differences in the inhibitory regulation of lordosis in rats. PMID:25278832

  19. Septum and medial frontal cortex contribution to spatial problem-solving.

    PubMed

    Poucet, B; Herrmann, T

    1990-03-26

    An attempt was made to contrast the effects of lesions to the medial frontal cortex and septum in two spatial tasks. In the fixed-goal (FG) task, the food was located on the same table throughout testing, and the start table was randomly varied from day to day. In the variable-goal (VG) task, the start table remained constant but the food was randomly distributed on one or the other of the two remaining tables. In both tasks, normal animals performed better than frontal and septal rats whose performance, however, improved over days in the FG, but not in the VG, task. In both tasks, significant improvement within days was found in medial frontal animals, but not in septal animals. Additional analyses revealed that septal animals had a general pattern of disrupted exploration and a tendency to use a response strategy (i.e. to repeat the same response both within and between days) which decreased over days in the FG task. In contrast, medial frontal animals did not demonstrate disrupted exploration nor any response tendency. It is concluded that both septal and medial frontal cortical damage produce a common spatial working memory impairment. However, there is some evidence to suggest that this common memory impairment could result from disruption of distinct mechanisms in septal and frontal animals. It is proposed that medial frontal lesions could affect some specific mechanism related either to attentional processes or to the ability to anticipate future events, whereas septal damage would interfere with the building of comprehensive and flexible spatial memories. PMID:2340101

  20. Maternal defense is modulated by beta adrenergic receptors in lateral septum in mice.

    PubMed

    Scotti, Melissa-Ann L; Lee, Grace; Gammie, Stephen C

    2011-06-01

    Maternal defense (offspring protection) is a critical and highly conserved component of maternal care in mammalian systems that involves dramatic shifts in a female's behavioral response to social cues. Numerous changes occur in neuronal signaling and connectivity in the postpartum female, including decreases in norepinephrine (NE) signaling in subregions of the CNS. In this study using a strain of mice selected for maternal defense, we examined whether possible changes in NE signaling in the lateral septum (LS) could facilitate expression of maternal aggression. In separate studies that utilized a repeated measures design, mice were tested for maternal defense following intra-LS injections of either the β-adrenergic receptor agonist isoproterenol (10 μg or 30 μg) or vehicle (Experiment 1), the β-adrenergic receptor antagonist propranolol (2 μg) or vehicle (Experiment 2), or the β1-receptor antagonist, atenolol (Experiment 3). Mice were also evaluated for light-dark performance and pup retrieval. Thirty micrograms of the agonist isoproterenol significantly decreased number of attacks and time aggressive relative to vehicle without affecting pup retrieval or light-dark box performance. In contrast, the antagonist propranolol significantly increased maternal aggression (lowered latency to attack and increased total attack time) without altering light-dark box test. The β1-specific antagonist, atenolol, significantly decreased latency to attack (1 μg vs. vehicle) without altering other measures. Although the findings were identified in a unique strain of mice, the results of these studies support the hypothesis that changes in NE signaling in LS during the postpartum period contribute to the expression of offspring protection. PMID:21480688

  1. The Modulatory Role of the Lateral Septum on Neuroendocrine and Behavioral Stress Responses

    PubMed Central

    Singewald, Georg M; Rjabokon, Alesja; Singewald, Nicolas; Ebner, Karl

    2011-01-01

    The lateral septum (LS) has been shown to have a key role in emotional processes and stress responses. However, the exact role of the LS on stress modulation is not clear, as previous lesion studies mostly used electrolytic lesions, thereby destroying the whole septal area, including medial components and/or fibers of passage. The aim of the present study was therefore, to investigate the effects of selective excitotoxic ablation of the LS on neuroendocrine and behavioral stress responses in rats. Bilateral ibotenic acid lesions of the LS increased hypothalamo–pituitary–adrenocortical (HPA) axis responses to forced swim stress indicated by enhanced plasma ACTH and corticosterone responses and higher stress-induced c-Fos-like immunoreactivity in the paraventricular hypothalamic nucleus. Moreover, LS-lesioned animals showed a more passive coping style in the forced swim test indicated by increased floating and reduced struggling/swimming behavior compared with sham-lesioned controls. Interestingly, intraseptal corticosteroid receptor blockade modulated behavioral stress coping but failed to change HPA axis stress responses. Further experiments aimed at elucidating underlying neurochemical mechanisms revealed that intraseptal administration of the selective 5-HT1A receptor antagonist WAY-100635 increased and prolonged stress-induced ACTH and corticosterone levels mimicking lesion effects, while the agonist 8-OH-DPAT suppressed HPA axis activity facilitating the inhibitory role of the LS. In addition, 8-OH-DPAT-injected animals showed increased active and decreased passive coping strategies during forced swimming suggesting antidepressant efficacy. Taken together, our data suggest that the LS promotes active stress coping behavior and is involved in a HPA-inhibitory mechanism that is at least in part mediated by septal 5-HT1A receptors and does not involve a glucocorticoid mediated feedback mechanism. PMID:21160468

  2. Antiplatelet effects of clopidogrel and aspirin after interventional patent foramen ovale/ atrium septum defect closure.

    PubMed

    Polzin, Amin; Dannenberg, Lisa; Sophia Popp, Valérie-; Kelm, Malte; Zeus, Tobias

    2016-06-01

    The optimal antiplatelet therapy after patent foramen ovale (PFO)/ atrium septum defect (ASD) closure is a matter of discussion. It is challenging as inter-individual responses to antiplatelet medication vary significantly and common complications are bleeding and ischemic events. In this study, we aimed to analyze the incidence of high on-treatment platelet reactivity (HTPR) to antiplatelet medication in patients undergoing PFO/ASD closure as well as clinical complications and thrombus formation on the occluder during six-month follow-up. This hypothesis generating pilot study was observed, which included 140 patients undergoing PFO/ASD closure. The primary endpoint was pharmacodynamic response to antiplatelet medication. A composite of death, myocardial infarction, bleeding, stroke and thrombus formation on the occluder during six-month follow-up was the secondary endpoint. HTPR to clopidogrel was analyzed using the vasodilator-stimulated protein phosphorylation (VASP), HTPR to aspirin by light-transmission aggregometry (LTA). In 71% of patients HTPR to clopidogrel was detected, HTPR to aspirin in only 4%. We observed 12 complications, 9 bleeding events (including 3 major bleeding events) and 3 transient ischemic attacks. No stroke and no thrombus formation on the occluder occurred. The primary endpoint was not associated with the secondary endpoint. The incidence of HTPR to clopidogrel in PFO/ASD closure patients is very high. Despite this high incidence, no stroke or thrombus formation on the occluder occurred at all. This leads to the hypothesis, that the benefit of additional clopidogrel medication is questionable and has to be investigated in large-scale clinical trials. PMID:26556101

  3. Glutamic acid decarboxylase isoform distribution in transgenic mouse septum: an anti-GFP immunofluorescence study.

    PubMed

    Verimli, Ural; Sehirli, Umit S

    2016-09-01

    The septum is a basal forebrain region located between the lateral ventricles in rodents. It consists of lateral and medial divisions. Medial septal projections regulate hippocampal theta rhythm whereas lateral septal projections are involved in processes such as affective functions, memory formation, and behavioral responses. Gamma-aminobutyric acidergic neurons of the septal region possess the 65 and 67 isoforms of the enzyme glutamic acid decarboxylase. Although data on the glutamic acid decarboxylase isoform distribution in the septal region generally appears to indicate glutamic acid decarboxylase 67 dominance, different studies have given inconsistent results in this regard. The aim of this study was therefore to obtain information on the distributions of both of these glutamic acid decarboxylase isoforms in the septal region in transgenic mice. Two animal groups of glutamic acid decarboxylase-green fluorescent protein knock-in transgenic mice were utilized in the experiment. Brain sections from the region were taken for anti-green fluorescent protein immunohistochemistry in order to obtain estimated quantitative data on the number of gamma-aminobutyric acidergic neurons. Following the immunohistochemical procedures, the mean numbers of labeled cells in the lateral and medial septal nuclei were obtained for the two isoform groups. Statistical analysis yielded significant results which indicated that the 65 isoform of glutamic acid decarboxylase predominates in both lateral and medial septal nuclei (unpaired two-tailed t-test p < 0.0001 for LS, p < 0.01 for MS). This study is the first to reveal the dominance of glutamic acid decarboxylase isoform 65 in the septal region in glutamic acid decarboxylase-green fluorescent protein transgenic mice. PMID:26643381

  4. Electrophysiological and autoradiographical evidence of V1 vasopressin receptors in the lateral septum of the rat brain

    SciTech Connect

    Raggenbass, M.; Tribollet, E.; Dreifuss, J.J.

    1987-11-01

    Extracellular recordings were obtained from single neurons located in the lateral septum, an area known to receive a vasopressinergic innervation in the rat brain. Approximately half of the neurons tested responded to 8-L-arginine vasopressin (AVP) by a marked increase in firing rate at concentrations greater than 1 nM. The effect of vasopressin was blocked by synthetic structural analogues possessing antagonistic properties on peripheral vasopressin and oxytocin receptors. Oxytocin was much less potent than vasopressin in firing septal neurons, and a selective oxytocic agonist was totally ineffective. The action of vasopressin on neuronal firing was mimicked by the vasopressor agonist (2-phenylalanine,8-ornithine)vasotocin but not by the selective antidiuretic agonist 1-deamino(8-D-arginine)vasopressin. In a parallel study, sites that bind (/sup 3/H)AVP at low concentration (1.5 nM) were found by in vitro autoradiography in the lateral septum. Adjacent sections were also incubated with 1.5 mM (/sup 3/H)AVP and, in addition, with 100 nM (2-phenylalanine,8-ornithine)vasotocin or 1-deamino(8-D-arginine)vasopressin--i.e., the same compounds as those used for the electrophysiological study. Results showed that the vasopressor agonist, but not the antidiuretic agonist, displaced (/sup 3/H)AVP, thus indicating that the vasopressin binding sites detected by autoradiography in the septum were V1 (vasopressor type) rather than V2 (antidiuretic type) receptors. Based on the electrophysiological evidence, we conclude that these receptors, when occupied, lead to increased firing of lateral septal neurons.

  5. Electrophysiological and autoradiographical evidence of V1 vasopressin receptors in the lateral septum of the rat brain.

    PubMed Central

    Raggenbass, M; Tribollet, E; Dreifuss, J J

    1987-01-01

    Extracellular recordings were obtained from single neurons located in the lateral septum, an area known to receive a vasopressinergic innervation in the rat brain. Approximately half of the neurons tested responded to 8-L-arginine vasopressin (AVP) by a marked increase in firing rate at concentrations greater than 1 nM. The effect of vasopressin was blocked by synthetic structural analogues possessing antagonistic properties on peripheral vasopressin and oxytocin receptors. Oxytocin was much less potent than vasopressin in firing septal neurons, and a selective oxytocic agonist was totally ineffective. The action of vasopressin on neuronal firing was mimicked by the vasopressor agonist [2-phenylalanine,8-ornithine]vasotocin but not by the selective antidiuretic agonist 1-deamino[8-D-arginine]vasopressin. In a parallel study, sites that bind [3H]AVP at low concentration (1.5 nM) were found by in vitro autoradiography in the lateral septum. Adjacent sections were also incubated with 1.5 mM [3H]AVP and, in addition, with 100 nM [2-phenylalanine,8-ornithine]vasotocin or 1-deamino[8-D-arginine]vasopressin--i.e., the same compounds as those used for the electrophysiological study. Results showed that the vasopressor agonist, but not the antidiuretic agonist, displaced [3H]AVP, thus indicating that the vasopressin binding sites detected by autoradiography in the septum were V1 (vasopressor type) rather than V2 (antidiuretic type) receptors. Based on the electrophysiological evidence, we conclude that these receptors, when occupied, lead to increased firing of lateral septal neurons. Images PMID:2959962

  6. Gene Expression Changes in the Septum: Possible Implications for MicroRNAs in Sculpting the Maternal Brain

    PubMed Central

    Zhao, Changjiu; Saul, Michael C.; Driessen, Terri; Gammie, Stephen C.

    2012-01-01

    The transition from the non-maternal to the maternal state is characterized by a variety of CNS alterations that support the care of offspring. The septum (including lateral and medial portions) is a brain region previously linked to various emotional and motivational processes, including maternal care. In this study, we used microarrays (PLIER algorithm) to examine gene expression changes in the septum of postpartum mice and employed gene set enrichment analysis (GSEA) to identify possible regulators of altered gene expression. Genes of interest identified as differentially regulated with microarray analysis were validated with quantitative real-time PCR. We found that fatty acid binding protein 7 (Fabp7) and galanin (Gal) were downregulated, whereas insulin-like growth factor binding protein 3 (Igfbp3) was upregulated in postpartum mice compared to virgin females. These genes were previously found to be differentially regulated in other brain regions during lactation. We also identified altered expression of novel genes not previously linked to maternal behavior, but that could play a role in postpartum processes, including glutamate-ammonia ligase (Glul) and somatostatin receptor 1 (Sstr1) (both upregulated in postpartum). Genes implicated in metabolism, cell differentiation, or proliferation also exhibited altered expression. Unexpectedly, enrichment analysis revealed a high number of microRNAs, transcription factors, or conserved binding sites (177 with corrected P-value <0.05) that were significantly linked to maternal upregulated genes, while none were linked to downregulated genes. MicroRNAs have been linked to placenta and mammary gland development, but this is the first indication they may also play a key role in sculpting the maternal brain. Together, this study provides new insights into genes (along with possible mechanisms for their regulation) that are involved in septum-mediated adaptations during the postpartum period. PMID:22701680

  7. MicroRNA expression is altered in lateral septum across reproductive stages.

    PubMed

    Saul, M C; Zhao, C; Driessen, T M; Eisinger, B E; Gammie, S C

    2016-01-15

    MicroRNAs (miRNAs) inhibit RNA targets and may contribute to postpartum central nervous system (CNS) gene expression changes, although this has never been tested. In the present study, we directly evaluated miRNA levels using RNA sequencing during reproduction in female mice in the lateral septum (LS). We found the reliable and robust changes of miRNAs away from the virgin stage at the three other stages, namely pregnant, day 1 postpartum, and day 8 postpartum. For a given miRNA that was significantly different from the virgin condition in more than one group, the direction of change was always the same. Overall, we identified 32 upregulated miRNAs and 25 downregulated miRNAs that were consistently different from the virgin state. 'Arm switching' occurs for miR-433-3 and miR-7b. Unexpectedly, a third of upregulated miRNAs (relative to virgin) were highly localized within the 12qF1 region of chromosome 12 that includes the Dlk1-Dio3 gene cluster implicated in stem cell and neuronal differentiation. Over 1500 genes were targeted by multiple upregulated miRNAs with about 100 genes targeted by five or more miRNAs. Over 1000 genes were targeted by multiple downregulated miRNAs with about 50 genes targeted by five or more miRNAs. Half of the target genes were regulated by up and downregulated miRNAs, indicating homeostatic regulation. Transcriptional regulation was the most enriched pathway for genes linked to up or down regulated miRNAs. Other enriched pathways included protein kinase activity (e.g., MAP kinase), CNS development, axon guidance, neurotrophin signaling, neuron development/differentiation, and neurogenesis. Previously published postpartum LS gene expression changes were enrichment for LS miRNA targets, as expected. Surprisingly, postpartum gene expression changes from other regions were also enriched against LS miRNA targets, suggesting a core group of miRNAs may act across the CNS during reproduction. Together, we directly examine miRNAs and find

  8. The effect of ploidy and incubation temperature on survival and the prevalence of aplasia of the septum transversum in Atlantic salmon, Salmo salar L.

    PubMed

    Fraser, T W K; Fleming, M S; Poppe, T T; Hansen, T; Fjelldal, P G

    2014-03-01

    Heart deformities are a concern in aquaculture and are linked to egg incubation temperature. Diploid and triploid Atlantic salmon, Salmo salar L., were incubated at 6, 8 and 10 °C and analysed for aplasia of the septum transversum (n = 150 ploidy⁻¹ incubation temperature⁻¹). Heart morphology (size and shape) was assessed in fish incubated at 6 °C and in fish with and without aplasia of the septum transversum (n = 9 group⁻¹) incubated at 10 °C. Egg mortality was significantly higher in triploids than in diploids at all incubation temperatures, and increased egg incubation temperatures increased mortality in both ploidy. Triploids grew quicker than diploids after egg incubation at 10 °C, but not at 6 °C. Aplasia of the septum transversum occurred only in triploid fish after incubation at 6 °C and 8 °C (0.7% and 3.3%, respectively) and was significantly greater (P ≤ 0.05) in triploids after incubation at 10 °C compared with diploids (30% and 18%, respectively). Aplasia of the septum transversum significantly increased heart mass and resulted in a long flat ventricle compared with fish displaying a septum transversum. The results suggest triploid salmon should be incubated below 8 °C. PMID:23488808

  9. Dysembryoplastic Neuroepithelial Tumor of the Septum Pellucidum and the Supratentorial Midline: Histopathologic, Neuroradiologic, and Molecular Features of 7 Cases.

    PubMed

    Gessi, Marco; Hattingen, Elke; Dörner, Evelyn; Goschzik, Tobias; Dreschmann, Verena; Waha, Andreas; Pietsch, Torsten

    2016-06-01

    Dysembryoplastic neuroepithelial tumors (DNTs) are one of the most common epilepsy-associated low-grade glioneuronal tumors of the central nervous system. Although most DNTs occur in the cerebral cortex, DNT-like tumors with unusual intraventricular or periventricular localizations have been reported. Most of them involve the septum pellucidum and the foramen of Monro. In this study, we have described the neuroradiologic, histopathologic, and molecular features of 7 cases (4 female and 3 male; patient age range, 3 to 34 y; mean age, 16.7 y). The tumors, all localized near the supratentorial midline structures in proximity to the foramen of Monro and septum pellucidum, appeared in magnetic resonance imaging as well-delimited cystic lesions with cerebrospinal fluid-like signal on T1-weighted and T2-weighted images, some of them with typical fluid-attenuated inversion recovery ring sign. Histologically, they shared features with classic cortical DNTs but did not display aspects of multinodularity. From a molecular point of view the cases investigated did not show KIAA1549-BRAF fusions or FGFR1 mutations, alterations otherwise observed in pilocytic astrocytomas, or MYB and MYBL1 alterations that have been identified in a large group of pediatric low-grade gliomas. Moreover, BRAF mutations, which so far represent the most common molecular alteration found in cortical DNTs, were absent in this group of rare periventricular tumors. PMID:26796505

  10. Normal development of the muscular region of the interventricular septum--I. The significance of the ventricular trabeculations.

    PubMed

    Contreras-Ramos, A; Sánchez-Gómez, C; García-Romero, H L; Cimarosti, L O

    2008-10-01

    The structures that participate in normal ventricular septation, and to what extent they do so, are questions not yet clarified. Even less is known about how much each of the embryonic structures contributes to the topography of the mature interventricular septum (IVS). The aim of the present paper is to investigate the significance of ventricular trabeculations in the normal development of the muscular region (the middle and apical thirds) of the IVS and to determine the direction in which it grows during cardiac septation. Anatomical studies and in vivo labelling were carried out in chicken embryo hearts at stage 18HH, tracing the labels up to stage 36HH. We analysed the results by measuring the distance between the labelled structures at the beginning and end of the experiments. We demonstrate that the muscular region of the septum originates by the fusion of the ventricular trabeculations with evidence that during cardiac development, the IVS as well as the ventricular cavities grow in opposite direction to the atria. PMID:18460050

  11. Distinct roles of Rho1, Cdc42, and Cyk3 in septum formation and abscission during yeast cytokinesis

    PubMed Central

    Onishi, Masayuki; Ko, Nolan; Nishihama, Ryuichi

    2013-01-01

    In yeast and animal cytokinesis, the small guanosine triphosphatase (GTPase) Rho1/RhoA has an established role in formation of the contractile actomyosin ring, but its role, if any, during cleavage-furrow ingression and abscission is poorly understood. Through genetic screens in yeast, we found that either activation of Rho1 or inactivation of another small GTPase, Cdc42, promoted secondary septum (SS) formation, which appeared to be responsible for abscission. Consistent with this hypothesis, a dominant-negative Rho1 inhibited SS formation but not cleavage-furrow ingression or the concomitant actomyosin ring constriction. Moreover, Rho1 is temporarily inactivated during cleavage-furrow ingression; this inactivation requires the protein Cyk3, which binds Rho1-guanosine diphosphate via its catalytically inactive transglutaminase-like domain. Thus, unlike the active transglutaminases that activate RhoA, the multidomain protein Cyk3 appears to inhibit activation of Rho1 (and thus SS formation), while simultaneously promoting cleavage-furrow ingression through primary septum formation. This work suggests a general role for the catalytically inactive transglutaminases of fungi and animals, some of which have previously been implicated in cytokinesis. PMID:23878277

  12. A sporulation-specific, sigF-dependent protein, SspA, affects septum positioning in Streptomyces coelicolor

    PubMed Central

    Tzanis, Angelos; Dalton, Kate A; Hesketh, Andrew; den Hengst, Chris D; Buttner, Mark J; Thibessard, Annabelle; Kelemen, Gabriella H

    2014-01-01

    The RNA polymerase sigma factor SigF controls late development during sporulation in the filamentous bacterium Streptomyces coelicolor. The only known SigF-dependent gene identified so far, SCO5321, is found in the biosynthetic cluster encoding spore pigment synthesis. Here we identify the first direct target for SigF, the gene sspA, encoding a sporulation-specific protein. Bioinformatic analysis suggests that SspA is a secreted lipoprotein with two PepSY signature domains. The sspA deletion mutant exhibits irregular sporulation septation and altered spore shape, suggesting that SspA plays a role in septum formation and spore maturation. The fluorescent translational fusion protein SspA–mCherry localized first to septum sites, then subsequently around the surface of the spores. Both SspA protein and sspA transcription are absent from the sigF null mutant. Moreover, in vitro transcription assay confirmed that RNA polymerase holoenzyme containing SigF is sufficient for initiation of transcription from a single sspA promoter. In addition, in vivo and in vitro experiments showed that sspA is a direct target of BldD, which functions to repress sporulation genes, including whiG, ftsZ and ssgB, during vegetative growth, co-ordinating their expression during sporulation septation. PMID:24261854

  13. In vitro study on the disinfectability of two split-septum needle-free connection devices using different disinfection procedures

    PubMed Central

    Engelhart, Steffen; Exner, Martin; Simon, Arne

    2015-01-01

    This in vitro study investigated the external disinfection of two needle-free connection devices (NFC) using Octeniderm® (spraying and wiping technique) vs. Descoderm® pads (wiping technique). The split-septum membrane of the NFC was contaminated with >105 CFU K. pneumoniae or S. epidermidis. The efficacy of the disinfection at 30 sec. exposure time was controlled by taking a swab sample and by flushing the NFC with sterile 0.9% sodium chloride solution. Disinfection with octenidine dihydrochloride 0.1 g, 1-Propanol 30.0 g, and 2-Propanol 45.0 g in 100 g solution was highly effective (CFU reduction ≥4 log) against both microorganisms, whereas the use of 63.1 g 2-Propanol in 100 ml solution led to residual contamination with S. epidermidis. Our investigation underlines that (i) in clinical practice disinfection of NFCs before use is mandatory, and that (ii) details of disinfection technique are of utmost importance regarding their efficacy. Our investigation revealed no significant differences between both split-septum NFC types. Clinical studies are needed to confirm a possible superiority of disinfectants with long-lasting residual antimicrobial activity. PMID:26693394

  14. Ovariectomy-associated changes in interradicular septum and in tibia metaphysis in different observation periods in rats.

    PubMed

    Esteves, Carina M; Moraes, Renata M; Gomes, Francine C; Marcondes, Meryenn S; Lima, Gabriela M G; Anbinder, Ana Lia

    2015-02-01

    In order to standardize an experimental model to study the effects of absence of ovarian hormones in maxillary bones compared with long bones, the aim of this research was to analyze the influence of ovariectomy (OVX) on rat alveolar bone and tibiae, in different observation periods. Thirty-six female rats were ovariectomized or sham operated. After 60, 90 or 120 days, the animals were sacrificed and their hemimandibles, maxillae and tibiae were removed and routinely prepared for hematoxylin and eosin staining. The percentage of bone matrix area in bone septum in the first molar furcation region, and in tibial metaphysis was calculated, and data were submitted to statistical analysis (p<0.05). As regards the histomorphometrical analysis in jaw bones, there was no statistical difference between groups, while the effects of ovariectomy on tibiae were seen as early as 60 days. According to the methods used, there was no significant influence of absence of ovarian hormones on interradicular septum of mandibular or maxillary first molars in the periods studied, despite the reduction in bone matrix area in tibia metaphysis as early as 60 days. PMID:25532670

  15. Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

    PubMed

    Zweier, Markus; Gregor, Anne; Zweier, Christiane; Engels, Hartmut; Sticht, Heinrich; Wohlleber, Eva; Bijlsma, Emilia K; Holder, Susan E; Zenker, Martin; Rossier, Eva; Grasshoff, Ute; Johnson, Diana S; Robertson, Lisa; Firth, Helen V; Ekici, Arif B; Reis, André; Rauch, Anita

    2010-06-01

    The etiology of mental retardation remains elusive in the majority of cases. Microdeletions within chromosomal bands 5q14.3q15 were recently identified as a recurrent cause of severe mental retardation, epilepsy, muscular hypotonia, and variable minor anomalies. By molecular karyotyping we identified two novel 2.4- and 1.5-Mb microdeletions of this region in patients with a similar phenotype. Both deletions contained the MEF2C gene, which is located proximally to the previously defined smallest region of overlap. Nevertheless, due to its known role in neurogenesis, we considered MEF2C as a phenocritical candidate gene for the 5q14.3q15 microdeletion phenotype. We therefore performed mutational analysis in 362 patients with severe mental retardation and found two truncating and two missense de novo mutations in MEF2C, establishing defects in this transcription factor as a novel relatively frequent autosomal dominant cause of severe mental retardation accounting for as much as 1.1% of patients. In these patients we found diminished MECP2 and CDKL5 expression in vivo, and transcriptional reporter assays indicated that MEF2C mutations diminish synergistic transactivation of E-box promoters including that of MECP2 and CDKL5. We therefore conclude that the phenotypic overlap of patients with MEF2C mutations and atypical Rett syndrome is due to the involvement of a common pathway. PMID:20513142

  16. Nail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology

    PubMed Central

    Konrads, Christian; Reppenhagen, Stephan; Plumhoff, Piet; Rudert, Maximilian; Steinert, Andre; Barthel, Thomas

    2016-01-01

    Introduction: Nail-patella-syndrome (NPS) is a rare autosomal-dominant inherited disease with pathologies of nails, skeleton, kidneys, and eyes. Linkage to a mutated gene was found. It codes for the transcription-factor LMX1B. In most cases knees are symptomatic. Patients have hypoplastic patellae, which are laterally subluxated. In those individuals a sagittal trochlear fibrous septum was found, dividing the anterior knee-joint-space. In the literature the etiology and clinical significance of this anatomic abnormality is unclear. Based on clinical and intraoperative findings we developed a theory regarding knee pathology in nail-patella-syndrome. Successful treatment via early resection of the septum with sustained good outcome is presented. Methods: In a symptomatic six-year-old boy with nail-patella-syndrome we resected the fibrous sagittal septum adherent to the trochlea femoris and we balanced the patella via lateral release and medial plication in both knee joints. We analyzed the clinical outcome of this procedure prospectively over 10 years. Results: Postoperatively the hypoplastic patellae stayed centered and stable during further skeletal development. The patient was still pain free with normal range of motion of both operated knee joints after 10 years of follow-up. Discussion: In patients with nail-patella-syndrome and a subluxated or dislocated patella we recommend diagnostics with magnetic-resonance-imaging and early surgical treatment via resection of the trochlear septum and soft-tissue-balancing of the patella. When the septum displaces the patella and prevents physiological articulation of the patella with the trochlea femoris, early septum resection is likely to be important for a good functional outcome and proper development of the patellofemoral joint during growth. PMID:27247258

  17. Extramedullary Pulmonary Hematopoiesis Causing Pulmonary Hypertension and Severe Tricuspid Regurgitation Detected by Technetium-99m Sulfur Colloid Bone Marrow Scan and Single-Photon Emission Computed Tomography/CT

    PubMed Central

    Clarke, Michael John; Kannivelu, Anbalagan; Chinchure, Dinesh; Srinivasan, Sivasubramanian

    2014-01-01

    Extramedullary pulmonary hematopoiesis is a rare entity with a limited number of case reports in the available literature only. We report the case of a 66-year-old man with known primary myelofibrosis, in whom a Technetium-99m sulfur colloid bone marrow scan with single-photon emission computed tomography (SPECT)/CT revealed a pulmonary hematopoiesis as the cause of pulmonary hypertension and severe tricuspid regurgitation. To the best of our knowledge, this is the first description of Technetium-99m sulfur colloid SPECT/CT imaging in this rare condition. PMID:24843243

  18. The role of carbon dioxide (and intracellular pH) in the pathomechanism of several mental disorders. Are the diseases of civilization caused by learnt behaviour, not the stress itself?

    PubMed

    Sikter, András; Faludi, Gábor; Rihmer, Zoltán

    2009-09-01

    The role of carbon dioxide (CO2) is underestimated in the pathomechanism of neuropsychiatric disorders, though it is an important link between psyche and corpus. The actual spiritual status also influences respiration (we start breathing rarely, frequently, irregularly, etc.) causing pH alteration in the organism; on the other hand the actual cytosolic pH of neurons is one of the main modifiers of Ca2+-conductance, hence breathing directly, quickly, and effectively influences the second messenger system through Ca2+-currents. (Decreasing pCO2 turns pH into alkalic direction, augments psychic arousal, while increasing pCO2 turns pH acidic, diminishes arousal.) One of the most important homeostatic function is to maintain or restore the permanence of H+-concentration, hence the alteration of CO2 level starts cascades of contraregulation. However it can be proved that there is no perfect compensation, therefore compensational mechanisms may generate psychosomatic disorders causing secondary alterations in the "milieu interieur". Authors discuss the special physico-chemical features of CO2, the laws of interweaving alterations of pCO2 and catecholamine levels (their feedback mechanism), the role of acute and chronic hypocapnia in several hyperarousal disorders (delirium, panic disorder, hyperventilation syndrome, generalized anxiety disorder, bipolar disorder), the role of "locus minoris resistentiae" in the pathomechanism of psychosomatic disorders. It is supposed that the diseases of civilization are caused not by the stress itself but the lack of human instinctive reaction to it, and this would cause long-lasting CO2 alteration. Increased brain-pCO2, acidic cytosol pH and/or increased basal cytosolic Ca2+ level diminish inward Ca2+-current into cytosol, decrease arousal--they may cause dysthymia or depression. This state usually co-exists with ATP-deficiency and decreased cytosolic Mg2+ content. This energetical- and ion-constellation is also typical of ageing

  19. A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect

    PubMed Central

    Niu, Dau‐Ming; Hwang, Betau; Hwang, Han‐Wei; Wang, Nana H; Wu, Jer‐Yuarn; Lee, Pi‐Chang; Chien, Jen‐Chung; Shieh, Ru‐Chi

    2006-01-01

    The SCN5A mutations have been associated with a variety of arrhythmic disorders, including type 3 long QT syndrome (LQT3), Brugada syndrome and inherited cardiac conduction defects. The relationship between genotype and phenotype in SCN5A mutations is complex. Some SCN5A mutations may cause death or severe manifestations in some people and may not cause any symptoms or arrhythmias in others. The causes of these unpredictable clinical manifestations remain incompletely understood. The molecular basis of a four‐generation family with cardiac conduction abnormalities was studied and whether variants in the SCN5A gene could account for the cardiac phenotypic variability observed in this family was determined. A novel mutation (W1421X) of SCN5A was identified in a four‐generation family with cardiac conduction abnormalities and several cases of sudden death. Most family members who carry this W1421X mutation have developed major clinical manifestations or electrocardiographic abnormalities, both of which became more prominent as the patients grew older. However, the 73‐year‐old grandfather, who carried both the W1421X and R1193Q mutations, had thus far remained healthy and presented with only subtle electrocardiographic abnormalities, whereas most of his offspring, who carried a single mutation (W1421X), had died early or had major disease manifestations. This observation suggests that the R1193Q mutation has a complementary role in alleviating the deleterious effects conferred by W1421X in the function of the SCN5A gene. This report provides a good model to explain the mechanism of penetrance of genetic disorders. PMID:16707561

  20. Characterization of Cognitive Deficits in Rats Overexpressing Human Alpha-Synuclein in the Ventral Tegmental Area and Medial Septum Using Recombinant Adeno-Associated Viral Vectors

    PubMed Central

    Hall, Hélène; Jewett, Michael; Landeck, Natalie; Nilsson, Nathalie; Schagerlöf, Ulrika; Leanza, Giampiero; Kirik, Deniz

    2013-01-01

    Intraneuronal inclusions containing alpha-synuclein (a-syn) constitute one of the pathological hallmarks of Parkinson's disease (PD) and are accompanied by severe neurodegeneration of A9 dopaminergic neurons located in the substantia nigra. Although to a lesser extent, A10 dopaminergic neurons are also affected. Neurodegeneration of other neuronal populations, such as the cholinergic, serotonergic and noradrenergic cell groups, has also been documented in PD patients. Studies in human post-mortem PD brains and in rodent models suggest that deficits in cholinergic and dopaminergic systems may be associated with the cognitive impairment seen in this disease. Here, we investigated the consequences of targeted overexpression of a-syn in the mesocorticolimbic dopaminergic and septohippocampal cholinergic pathways. Rats were injected with recombinant adeno-associated viral vectors encoding for either human wild-type a-syn or green fluorescent protein (GFP) in the ventral tegmental area and the medial septum/vertical limb of the diagonal band of Broca, two regions rich in dopaminergic and cholinergic neurons, respectively. Histopathological analysis showed widespread insoluble a-syn positive inclusions in all major projections areas of the targeted nuclei, including the hippocampus, neocortex, nucleus accumbens and anteromedial striatum. In addition, the rats overexpressing human a-syn displayed an abnormal locomotor response to apomorphine injection and exhibited spatial learning and memory deficits in the Morris water maze task, in the absence of obvious spontaneous locomotor impairment. As losses in dopaminergic and cholinergic immunoreactivity in both the GFP and a-syn expressing animals were mild-to-moderate and did not differ from each other, the behavioral impairments seen in the a-syn overexpressing animals appear to be determined by the long term persisting neuropathology in the surviving neurons rather than by neurodegeneration. PMID:23705016

  1. A case report of aphallia with urorectal septum malformation sequence in a newborn: a very rarely seen condition

    PubMed Central

    Sharma, Deepak; Singh, Ravinder; Shastri, Sweta

    2015-01-01

    Aphallia (absence of penis) is an extremely rare abnormality which has rarely been described in medical literature and can be part of the urorectal septum malformation sequence (URSMS). URSMS has hardly been reported in medical literature and includes the absence of perineal and anal openings in association with ambiguous genitalia and urogenital, colonic, and lumbosacral anomalies. This case report tells the importance of detailed examination of infants that are diagnosed with aphallia. We report a case of a newborn who was diagnosed as aphallia with the URSMS syndrome after birth. The neonate had an endocardial cushion defect (atrial septal defect and ventricular septal defect) and bilateral agenesis of the kidney. The neonate succumbed to death secondary to hypoplastic lung leading to respiratory failure. PMID:26673776

  2. Mycobacterium tuberculosis Proteins Involved in Mycolic Acid Synthesis and Transport Localize Dynamically to the Old Growing Pole and Septum

    PubMed Central

    Cantaloube, Sylvain; Bonne, Mélanie; Diagne, Cheikh T.; Laval, Françoise; Daffé, Mamadou; Zerbib, Didier

    2014-01-01

    Understanding the mechanism that controls space-time coordination of elongation and division of Mycobacterium tuberculosis (Mtb), the causative agent of tuberculosis (TB), is critical for fighting the tubercle bacillus. Most of the numerous enzymes involved in the synthesis of Mycolic acid - Arabinogalactan-Peptidoglycan complex (MAPc) in the cell wall are essential in vivo. Using a dynamic approach, we localized Mtb enzymes belonging to the fatty acid synthase-II (FAS-II) complexes and involved in mycolic acid (MA) biosynthesis in a mycobacterial model of Mtb: M. smegmatis. Results also showed that the MA transporter MmpL3 was present in the mycobacterial envelope and was specifically and dynamically accumulated at the poles and septa during bacterial growth. This localization was due to its C-terminal domain. Moreover, the FAS-II enzymes were co-localized at the poles and septum with Wag31, the protein responsible for the polar localization of mycobacterial peptidoglycan biosynthesis. The dynamic localization of FAS-II and of the MA transporter with Wag31, at the old-growing poles and at the septum suggests that the main components of the mycomembrane may potentially be synthesized at these precise foci. This finding highlights a major difference between mycobacteria and other rod-shaped bacteria studied to date. Based on the already known polar activities of envelope biosynthesis in mycobacteria, we propose the existence of complex polar machinery devoted to the biogenesis of the entire envelope. As a result, the mycobacterial pole would represent the Achilles' heel of the bacillus at all its growing stages. PMID:24817274

  3. Left ventricular outflow tract obstruction in complete transposition of the great arteries with intact ventricular septum. A cross sectional echocardiography study.

    PubMed Central

    Robinson, P J; Wyse, R K; Macartney, F J

    1985-01-01

    The roles of posterior bulging of the interventricular septum (septal bulge) and of systolic septal mitral apposition in patients with simple transposition of the great arteries are not known. Cross sectional echocardiograms of 40 such patients were reviewed (after exclusion of those with fixed left ventricular outflow tract obstruction) and haemodynamic findings were compared with long and short axis measurements within the left ventricle. There was no significant correlation between the degree of septal bulge and systolic gradient across the left ventricular outflow tract, but septal bulge correlated weakly with systolic right ventricular pressure and inversely with pulmonary arteriolar resistance index. Systolic left ventricular outflow gradient was inversely related to the minimum systolic distance between the anterior mitral leaflet and interventricular septum. No patients without complete systolic apposition of the anterior mitral leaflet and interventricular septum had a left ventricular outflow gradient greater than 20 mm Hg. Conversely, even when cross sectional echocardiography showed apparently total obstruction of the left ventricular outflow tract at some time in systole there was often no significant gradient detected during haemodynamic study. In the short axis cuts closeness of the papillary muscles to the interventricular septum or to each other was unrelated to systolic gradient. This study shows that (a) cross sectional echocardiography can identify fixed obstruction of the left ventricular outflow tract in simple transposition of the great arteries; (b) the degree of septal bulge, unless complicated by fibrous thickening of the anterior mitral leaflet and interventricular septum, is unrelated to the gradient across the left ventricular outflow tract; (c) the absence of systolic septal/mitral apposition excludes a significant gradient at that site across the left ventricular outflow tract; and (d) papillary muscle geometry is unrelated to dynamic

  4. A marginal structural model for multiple-outcome survival data:assessing the impact of injection drug use on several causes of death in the Canadian Co-infection Cohort.

    PubMed

    Moodie, Erica E M; Stephens, David A; Klein, Marina B

    2014-04-15

    It is often the case that interest lies in the effect of an exposure on each of several distinct event types. For example, we are motivated to investigate in the impact of recent injection drug use on deaths due to each of cancer, end-stage liver disease, and overdose in the Canadian Co-infection Cohort (CCC). We develop a marginal structural model that permits estimation of cause-specific hazards in situations where more than one cause of death is of interest. Marginal structural models allow for the causal effect of treatment on outcome to be estimated using inverse-probability weighting under the assumption of no unmeasured confounding; these models are particularly useful in the presence of time-varying confounding variables, which may also mediate the effect of exposures. An asymptotic variance estimator is derived, and a cumulative incidence function estimator is given. We compare the performance of the proposed marginal structural model for multiple-outcome data to that of conventional competing risks models in simulated data and demonstrate the use of the proposed approach in the CCC. PMID:24272681

  5. Severe Weather

    ERIC Educational Resources Information Center

    Forde, Evan B.

    2004-01-01

    Educating the public about safety issues related to severe weather is part of the National Oceanic and Atmospheric Administration's (NOAA) mission. This article deals with a poster entitled, "Severe Weather," that has been created by NOAA to help educate the public about hazardous weather conditions. The four types of severe weather highlighted in…

  6. Severe Weather

    ERIC Educational Resources Information Center

    Forde, Evan B.

    2004-01-01

    Educating the public about safety issues related to severe weather is part of the National Oceanic and Atmospheric Administration's (NOAA) mission. This month's insert, Severe Weather, has been created by NOAA to help educate the public about hazardous weather conditions. The four types of severe weather highlighted in this poster are hurricanes,…

  7. Carolacton Treatment Causes Delocalization of the Cell Division Proteins PknB and DivIVa in Streptococcus mutans in vivo

    PubMed Central

    Reck, Michael; Wagner-Döbler, Irene

    2016-01-01

    The small inhibitory molecule Carolacton has been shown to cause chain formation and bulging in Streptococci, suggesting a defect in cell division, but it is not known how cell division is impaired on a molecular level. Fluorescent fusion proteins have successfully been applied to visualize protein localization and dynamics in vivo and have revolutionized our understanding of cell wall growth, cell division, chromosome replication and segregation. However, in Streptococci the required vectors are largely lacking. We constructed vectors for chromosomal integration and inducible expression of fluorescent fusion proteins based on GFP+ in S. mutans. Their applicability was verified using four proteins with known localization in the cell. We then determined the effect of Carolacton on the subcellular localization of GFP+ fusions of the cell division protein DivIVa and the serine-threonine protein kinase PknB. Carolacton caused a significant delocalization of these proteins from midcell, in accordance with a previous study demonstrating the Carolacton insensitive phenotype of a pknB deletion strain. Carolacton treated cells displayed an elongated phenotype, increased septum formation and a severe defect in daughter cell separation. GFP+ fusions of two hypothetical proteins (SMU_503 and SMU_609), that had previously been shown to be the most strongly upregulated genes after Carolacton treatment, were found to be localized at the septum in midcell, indicating their role in cell division. These findings highlight the importance of PknB as a key regulator of cell division in streptococci and indicate a profound impact of Carolacton on the coordination between peripheral and septal cell wall growth. The established vector system represents a novel tool to study essential steps of cellular metabolism. PMID:27242711

  8. Severe gastrointestinal bleeding.

    PubMed

    Isaacs, K L

    1994-02-01

    Severe gastrointestinal bleeding is a common cause of admission of the elderly to intensive care units. Differentiation between upper and lower gastrointestinal bleeding is made on the basis of history, physical examination, and diagnostic tests. Therapy is based in part on the severity of the bleeding episode and on the cause of the hemorrhage. Therapeutic intervention may involve medical therapy, endoscopic therapy, angiographic therapy, and surgery. Patient outcome is often related to other underlying disease states. PMID:8168017

  9. Severe Sarcoidosis.

    PubMed

    Kouranos, Vasileios; Jacob, Joe; Wells, Athol U

    2015-12-01

    In sarcoidosis, reduction in mortality and the prevention of disability due to major organ involvement are treatment goals. Thus, it is important to recognize severe disease and identify patients at higher risk of progression to severe disease. In this article, fibrotic lung disease and cardiac sarcoidosis are reviewed as the major contributors to sarcoidosis mortality and morbidity. In the absence of a standardized definition of severe pulmonary disease, a multidisciplinary approach to clinical staging is suggested, based on symptoms, pulmonary function tests, and imaging findings at presentation, integrated with the duration of disease and longitudinal disease behavior during early follow-up. PMID:26593144

  10. Medial Septum-Diagonal Band of Broca (MSDB) GABAergic Regulation of Hippocampal Acetylcholine Efflux Is Dependent on Cognitive Demands

    PubMed Central

    Roland, Jessica J.; Stewart, Amanda L.; Janke, Kellie L.; Gielow, Matthew R.; Kostek, John A.; Savage, Lisa M.; Servatius, Richard J.

    2014-01-01

    The septohippocampal pathway contains cholinergic, GABAergic, and glutamatergic projections and has an established role in learning, memory, and hippocampal theta rhythm. Both GABAergic and cholinergic neurons in the medial septum-diagonal band of Broca (MSDB) have been associated with spatial memory, but the relationship between the two neuronal populations is not fully understood. The present study investigated the effect of selective GABAergic MSDB lesions on hippocampal acetylcholine (ACh) efflux and spatial memory during tasks that varied in memory demand. Male Sprague Dawley rats were given GABAergic lesions of the MSDB using GAT1-saporin (GAT1-SAP) and examined on spontaneous exploration (Experiment 1) and non-matching to position without (NMTP; Experiment 2) and with a delay (DNMTP; Experiment 3), while concurrently using in vivo microdialysis to measure hippocampal ACh efflux. Intraseptal GAT1-SAP treatment did not alter baseline or behaviorally stimulated hippocampal ACh efflux or maze exploration (Experiment 1). Moreover, GAT1-SAP did not alter evoked hippocampal ACh efflux related to NMTP nor did it impair working memory in NMTP (Experiment 2). In contrast, both ACh efflux and performance in DNMTP were impaired by intraseptal GAT1-SAP. Thus, GABAergic MSDB neurons are important for spatial working memory and modulate hippocampal ACh efflux under conditions of high memory load. The relationship between the septohippocampal cholinergic and GABAergic systems and working memory will be discussed. PMID:24403150

  11. Loss of medial septum cholinergic neurons in THY-Tau22 mouse model: what links with tau pathology?

    PubMed

    Belarbi, K; Burnouf, S; Fernandez-Gomez, F-J; Desmercières, J; Troquier, L; Brouillette, J; Tsambou, L; Grosjean, M-E; Caillierez, R; Demeyer, D; Hamdane, M; Schindowski, K; Blum, D; Buée, L

    2011-09-01

    Alzheimer's disease (AD) is a neurodegenerative disorder histologically defined by the cerebral accumulation of amyloid deposits and neurofibrillary tangles composed of hyperphosphorylated tau proteins. Loss of basal forebrain cholinergic neurons is another hallmark of the disease thought to contribute to the cognitive dysfunctions. To this date, the mechanisms underlying cholinergic neurons degeneration remain uncertain. The present study aimed to investigate the relationship between neurofibrillary degeneration and cholinergic defects in AD using THY-Tau22 transgenic mouse model exhibiting a major hippocampal AD-like tau pathology and hyperphosphorylated tau species in the septohippocampal pathway. Here, we report that at a time THY-Tau22 mice display strong reference memory alterations, the retrograde transport of fluorogold through the septohippocampal pathway is altered. This impairment is associated with a significant reduction in the number of choline acetyltransferase (ChAT)-immunopositive cholinergic neurons in the medial septum. Analysis of nerve growth factor (NGF) levels supports an accumulation of the mature neurotrophin in the hippocampus of THY-Tau22 mice, consistent with a decrease of its uptake or retrograde transport by cholinergic terminals. Finally, our data strongly support that tau pathology could be instrumental in the cholinergic neuronal loss observed in AD. PMID:21605043

  12. [Anesthesia Management of a Patient with Pulmonary Atresia, Intact Ventricular Septum, Major Aortopulmonary Collateral Artery and Tetralogy of Fallot].

    PubMed

    Hitosugi, Takashi; Tsukamoto, Masanori; Ishii, Kentaro; Kadowaki, Masanori; Fujiwara, Shigeki; Yokoyama, Takeshi

    2016-03-01

    The patient was a 6-year-old girl with pulmonary atresia, intact ventricular septum and major aortopulmonary collateral artery with tetralogy of Fallot Her Sp(O2) was around 60% under room air, and she could not walk long. She underwent dental treatment under general anesthesia. Invasive monitoring using pulmonary artery catheter should have been avoided, since the risk of monitoring greatly exceeds that of the treatment. The patient entered the operating room with her mother, and anesthesia was induced with intravenous midazolam, propofol and vecuronium. She was intubated orally first and impedance cardiography monitoring was started. FI(O2) was maintained at 0.5-1.0. Increases in airway pressure and Pa(CO2) were appropriately avoided. Dental treatment is important for infants with cardiac disease not only to reduce their pain, but also to reduce the risk of infection. It often requires general anesthesia. We have to conduct it with less invasiveness and less stress. PMID:27097511

  13. Vasopressin cells in the medial amygdala of the rat project to the lateral septum and ventral hippocampus.

    PubMed

    Caffé, A R; van Leeuwen, F W; Luiten, P G

    1987-07-01

    The rat brain contains a large number of vasopressin (VP) immunoreactive fibers, the sites of origin of which have not yet been established completely. For instance, the sources of VP fiber systems in the amygdala, ventral hippocampus (VH), mediodorsal thalamic nucleus, ventral tegmental area, and dorsal raphe yet remain obscure. These VP fibers may originate in any of the recently described extrahypothalamic VP cell groups, viz., medial amygdaloid nucleus (AME), dorsomedial hypothalamic nucleus, or locus coeruleus, since VP efferents from these cells still remain to be demonstrated. In search of AME VP efferents three approaches were followed: (1) the Phaseolus vulgaris anterograde tracing method, (2) immunocytochemistry after AME lesioning, and (3) retrograde transport of a fluorescent dye in combination with immunofluorescence. The results demonstrate that VP cells in the AME project to (1) the lateral septum (LS) by the ventral amygdalofugal pathway and (2) the VH via the amygdalohippocampal transition zone. In addition, the VP projection from the bed nucleus of the stria terminalis (BST) to the LS was confirmed. There was no indication that VP cells in the AME project through the amygdalotegmental pathway to the medulla oblongata and spinal cord. The results support the possibility that the BST and AME are an anatomical entity that may be part of the central loci controlling sexual processes in the rat. PMID:3305600

  14. Sever's Disease

    MedlinePlus

    ... Are Reading Upsetting News Reports? What to Say Vaccines: Which Ones & When? Smart School Lunches Emmy-Nominated Video "Cerebral Palsy: Shannon's Story" 5 Things to Know About Zika & Pregnancy Sever's Disease KidsHealth > ...

  15. Assessment of the effect of deviated nasal septum on the structure of nasal cavity.

    PubMed

    Wang, Junguo; Dou, Xin; Liu, Dingding; Song, Panpan; Qian, Xiaoyun; Wang, Shoulin; Gao, Xia

    2016-06-01

    The present study was aimed to investigate the effects of DNS on the structure of nasal cavity. The paranasal sinus coronal view CT of 108 patients with DNS and 129 hospitalized patients without DNS was retrospectively analyzed. The transverse diameter of nasal cavity (a), transverse diameter of nasal cavity and paranasal sinus (b), angle between maxillary and palatal bone, interalveolar distance, and maxillary rotation distance were measured. The ratio of a/b in experimental group was 0.367 ± 0.006 which was significantly (P = 0.0023) less than that in control group (0.391 ± 0.005). For the angle between maxillary and palatal bone, there was no significant difference found between DNS and control group for both right and left sides. The interalveolar distance was 40.75 mm in experimental group, and 38.8 mm in control (P = 0.0002). For the maxillary rotation distance, findings were considered as significant (P < 0.0001) in experimental group (11.25 mm) compared with control (10.1 mm). The present study demonstrates that long-term DNS affects the development of nasal cavity and paranasal sinus, as well as increases the interalveolar distance and maxillary rotation distance. These influences may be caused by the alteration of airflow inside the nasal cavities. PMID:26370235

  16. Theta-rhythmic drive between medial septum and hippocampus in slow-wave sleep and microarousal: a Granger causality analysis.

    PubMed

    Kang, D; Ding, M; Topchiy, I; Shifflett, L; Kocsis, B

    2015-11-01

    Medial septum (MS) plays a critical role in controlling the electrical activity of the hippocampus (HIPP). In particular, theta-rhythmic burst firing of MS neurons is thought to drive lasting HIPP theta oscillations in rats during waking motor activity and REM sleep. Less is known about MS-HIPP interactions in nontheta states such as non-REM sleep, in which HIPP theta oscillations are absent but theta-rhythmic burst firing in subsets of MS neurons is preserved. The present study used Granger causality (GC) to examine the interaction patterns between MS and HIPP in slow-wave sleep (SWS, a nontheta state) and during its short interruptions called microarousals (a transient theta state). We found that during SWS, while GC revealed a unidirectional MS→HIPP influence over a wide frequency band (2-12 Hz, maximum: ∼8 Hz), there was no theta peak in the hippocampal power spectra, indicating a lack of theta activity in HIPP. In contrast, during microarousals, theta peaks were seen in both MS and HIPP power spectra and were accompanied by bidirectional GC with MS→HIPP and HIPP→MS theta drives being of equal magnitude. Thus GC in a nontheta state (SWS) vs. a theta state (microarousal) primarily differed in the level of HIPP→MS. The present findings suggest a modification of our understanding of the role of MS as the theta generator in two regards. First, a MS→HIPP theta drive does not necessarily induce theta field oscillations in the hippocampus, as found in SWS. Second, HIPP theta oscillations entail bidirectional theta-rhythmic interactions between MS and HIPP. PMID:26354315

  17. Significance of Late Gadolinium Enhancement at Right Ventricular Attachment to Ventricular Septum in Patients With Hypertrophic Cardiomyopathy.

    PubMed

    Chan, Raymond H; Maron, Barry J; Olivotto, Iacopo; Assenza, Gabriele E; Haas, Tammy S; Lesser, John R; Gruner, Christiane; Crean, Andrew M; Rakowski, Harry; Rowin, Ethan; Udelson, James; Lombardi, Massimo; Tomberli, Benedetta; Spirito, Paolo; Formisano, Francesco; Marra, Martina P; Biagini, Elena; Autore, Camillo; Manning, Warren J; Appelbaum, Evan; Roberts, William C; Basso, Cristina; Maron, Martin S

    2015-08-01

    Cardiovascular magnetic resonance (CMR) with extensive late gadolinium enhancement (LGE) is a novel marker for increased risk for sudden death (SD) in patients with hypertrophic cardiomyopathy (HC). Small focal areas of LGE confined to the region of right ventricular (RV) insertion to ventricular septum (VS) have emerged as a frequent and highly visible CMR imaging pattern of uncertain significance. The aim of this study was to evaluate the prognostic significance of LGE confined to the RV insertion area in patients with HC. CMR was performed in 1,293 consecutive patients with HC from 7 HC centers, followed for 3.4 ± 1.7 years. Of 1,293 patients (47 ± 14 years), 134 (10%) had LGE present only in the anterior and/or inferior areas of the RV insertion to VS, occupying 3.7 ± 2.9% of left ventricular myocardium. Neither the presence nor extent of LGE in these isolated areas was a predictor of adverse HC-related risk, including SD (adjusted hazard ratio 0.82, 95% confidence interval 0.45 to 1.50, p = 0.53; adjusted hazard ratio 1.16/10% increase in LGE, 95% confidence interval 0.29 to 4.65, p = 0.83, respectively). Histopathology in 20 HC hearts show the insertion areas of RV attachment to be composed of a greatly expanded extracellular space characterized predominantly by interstitial-type fibrosis and interspersed disorganized myocyte patterns and architecture. In conclusion, LGE confined to the insertion areas of RV to VS was associated with low risk of adverse events (including SD). Gadolinium pooling in this region of the left ventricle does not reflect myocyte death and repair with replacement fibrosis or scarring. PMID:26026863

  18. Functional cooperation between the hippocampal subregions and the medial septum in unreinforced and reinforced spatial memory tasks.

    PubMed

    Okada, Kana; Okaichi, Hiroshige

    2010-06-19

    Anatomical connections between the medial septum (MS) and hippocampus (Hipp) via the fimbria-fornix suggest that functional cooperation between these structures may be important for the acquisition and use of spatial reference memories. The present study examined the extent to which this was true for both an unreinforced learning task (object exploration task) and a reinforced learning task (Morris water maze task). In Experiment 1, we compared the performance of MS/Hipp contralateral- and MS/Hipp ipsilateral-lesioned rats. MS/Hipp contralateral-lesioned rats exhibited deficient performance in both the object exploration and Morris water maze tasks. In Experiment 2, we examined the task performance of MS/CA1 contralateral-, MS/CA1 ipsilateral-, MS/CA3 contralateral- and MS/CA3 ipsilateral-lesioned rats. Contralateral MS/CA3 and MS/CA1 lesions were respectively associated with deficient performance at the spatial recognition test and object recognition test in the object exploration task. None of the lesioned rats performed deficiently in the Morris water maze task. These results indicate the importance of spatial reference memory of a functional cooperation between the MS and Hipp as a whole, irrespective of reward contingency. In contrast, functional cooperation between the MS and each of CA1 and CA3 played an important role in the performance of the unreinforced voluntary task, but not in the reinforced task. Further, the functional cooperation of both MS/CA3 and MA/CA1 were important in the spatial reference memory with the unreinforced task. PMID:20144657

  19. A randomized comparison of fluoroscopic techniques for implanting pacemaker lead on the right ventricular outflow tract septum.

    PubMed

    Chen, Dongli; Wei, Huiqiang; Tang, Jiaojiao; Liu, Lie; Wu, Shulin; Lin, Chunying; Zhang, Qianhuan; Liang, Yuanhong; Chen, Silin

    2016-05-01

    Right ventricular outflow tract (RVOT) septal pacing is commonly performed under the standard fluoroscopic positions during procedure. The aim of the prospective, randomized study was to evaluate the accuracy of the combination of standard fluoroscopic and left lateral (LL) fluoroscopic views for determination of RVOT septal position compared with standard fluoroscopic views alone. We prospectively enrolled patients who had indications for implantation of a permanent pacemaker. Patients were randomly assigned into two groups based on intraoperative fluoroscopic views as follows: LL group (three standard fluoroscopic views + LL fluoroscopic view) or standard group (three standard fluoroscopic views). Transthoracic echocardiography (TTE) determination of pacing sites was applied in all patients 3 days after pacemaker implantation. The implantation success rate of RVOT septal pacing was compared between groups. A total of 143 patients (59 males, mean age 57.6 ± 16.3 years) with symptomatic bradyarrhythmia were studied, of whom, 72 patients were randomized to LL group and 71 to standard group. TTE determination of pacing sites was compared with two groups. In the LL group, 60 patients (83 %) were achieved in RVOT septal position. In the standard group, however, the position of RVOT septum was only observed in 48 patients (68 %). The success rate of RVOT septal position in LL group was significantly higher than standard group (p = 0.029). Comparing to traditional views, combining LL view in the procedure will approve the accuracy of RVOT septal pacing site. PMID:26797500

  20. Ontong Java volcanism initiated long-term climate warming that caused substantial changes in terrestrial vegetation several tens of thousand years before the onset of OAE1a (Early Aptian, Cretaceous)

    NASA Astrophysics Data System (ADS)

    Keller, Christina E.; Hochuli, Peter A.; Giorgioni, Martino; Garcia, Therese I.; Bernasconi, Stefano M.; Weissert, Helmut

    2010-05-01

    During Cretaceous times, several intense volcanic episodes are proposed as trigger for episodic climate warming, for changes in marine circulation patterns and for elevated marine productivity, which resulted in the widespread black shale deposits of the Oceanic Anoxic Events (OAE). In the sediments underlying the early Aptian OAE1a black shales, a prominent negative carbon isotope excursion is recorded. Its origin had long been controversial (e.g. Arthur, 2000; Jahren et al., 2001) before recent studies attributed it to the Ontong Java volcanism (Méhay et al., 2009; Tejada et al., 2009). Volcanic outgassing results in an increased pCO2 and should lead to a rise in global temperatures. We therefore investigated if the volcanically-induced increase in pCO2 at the onset of OAE1a in the early Aptian led to a temperature rise that was sufficient to affect terrestrial vegetation assemblages. In order to analyse changes in terrestrial palynomorph assemblages, we examined 15 samples from 12 black shale horizons throughout the early Aptian negative C-isotope spike interval of the Pusiano section (Maiolica Formation; N-Italy). These sediments were deposited at the southern continental margin of the alpine Tethys Ocean and have been bio- and magnetostratigraphically dated by Channell et al. (1995). In order to obtain a continuous palynological record of the negative C-isotope spike interval and the base of OAE1a, we combined this pre-OAE1a interval of Pusiano with the OAE1a interval of the nearby Cismon section (Hochuli et al., 1999). The sporomorph assemblages at the base of this composite succession feature abundant bisaccate pollen, which reflects a warm-temperate climate. Rather arid conditions are inferred from low trilete spore percentages. Several tens of thousand years before the onset of OAE1a, C-isotope values started to decrease. Some thousand years later, bisaccate pollen began to decrease, whereas an increase of Classopollis spp. and Araucariacites spp

  1. [Severe asthma].

    PubMed

    González, Claudio D

    2016-01-01

    The objectives of this work were to investigate the frequency of severe asthma (SA) according to WHO definition and to compare SA patients' characteristics with those of non-severe asthma (NSA); secondly, to investigate the level of control reached throughout a period of regular treatment. Between 1-1-2005 and 12-31-2014, 471 medical records from patients with bronchial asthma assisted in Buenos Aires City were analyzed. SA frequency was 40.1% (189/471), being significantly higher among patients from the public health system (47.7%, 108/226 vs. 33%, 81/245, p = 0.001). SA patients were older than NSA ones (51.3 ± 17.4 vs. 42.6 ± 17.1 years, p = 0.000), presented longer time since onset of the disease (median 30 vs. 20 years, p = 0.000), lower educational levels (secondary level or higher 41.7% vs. 58.1%, p = 0.000), lower frequency of rhinitis (47% vs. 60.6%, p = 0.004), more severe levels of airway obstruction (FEV% 50.2 ± 13.7 vs. 77.7 ± 12.4, p = 0.000), more frequent antecedents of Near Fatal Asthma (11.1% vs. 2.8%, p = 0.000), higher levels of serum IgE (median of 410 vs. 279 UI/l, p = 0.01) and higher demand of systemic steroids requirements and hospitalizations (68.7% vs. 50.7%, p = 0.000 and 37.5% vs. 15.9%, p = 0.000, respectively). A 30.6% of SA patients (58/189) reached a follow-up period of 12 months, 13 (22.5%) of whom reached the controlled asthma level. The frequency of SA found seems to be considerable. Multicenter studies to investigate the levels of control reached by SA patients with access to proper treatment are recommended. PMID:26826988

  2. Suckling induces a daily rhythm in the preoptic area and lateral septum but not in the bed nucleus of the stria terminalis in lactating rabbit does.

    PubMed

    Meza, Enrique; Aguirre, Juan; Waliszewski, Stefan; Caba, Mario

    2015-01-01

    Maternal behavior in the rabbit is restricted to a brief nursing period every day. Previously, we demonstrated that this event induces daily rhythms of Period1 (PER1) protein, the product of the clock gene Per1, in oxytocinergic and dopaminergic populations in the hypothalamus of lactating rabbit does. This is significant for the periodic production and ejection of milk, but the activation of other areas of the brain has not been explored. Here, we hypothesised that daily suckling would induce a rhythm in the preoptic area, lateral septum, and bed nucleus of the stria terminalis, which are important areas for the expression of maternal behavior in mammals, including the rabbit. To this end, we analysed PER1 expression in those areas through a complete 24-h cycle at lactation day 7. Does were scheduled to nurse during either the day at 10:00 h [zeitgeber time (ZT)03] or the night at 02:00 h (ZT19). Non-pregnant, non-lactating females were used as controls. In contrast to control females, lactating does showed a clear, significant rhythm of PER1 that shifted in parallel with the timing of nursing in the preoptic area and lateral septum. We determined that the maximal expression of PER1 at 8 h after scheduled nursing decreased significantly at 24 and 48 h after the absence of suckling. This effect was more pronounced in the lateral septum than in the preoptic area. We conclude that daily suckling is a powerful stimulus inducing rhythmic activity in brain structures in the rabbit that appear to form part of a maternal entrainable circuit. PMID:25370159

  3. Successful Repair of Hypoplastic Left Heart Syndrome With Intact Atrial Septum, Congenital Diaphragm Hernia, and Anomalous Origin of Coronary Artery: Defying the Odds.

    PubMed

    Sathanandam, Shyam; Kumar, T K Susheel; Feliz, Alexander; Knott-Craig, Christopher J

    2016-07-01

    We report a case of an infant who was postnatally diagnosed with hypoplastic left heart syndrome and an intact atrial septum who underwent emergent atrial decompression followed by the Norwood operation. She was also found to have a congenital diaphragmatic hernia on the left side and a congenital eventration of the right diaphragm, both requiring surgical repair. She was later found to have an anomalous origin of the left circumflex coronary artery from the right pulmonary artery that was ligated at the time of the bilateral bidirectional Glenn operation. She is currently thriving at home, defying all odds. PMID:27343534

  4. Preferential Pathway Pacing within the Aortic Sinus of Valsalva: Strong Evidence for the Existence of Preferential Conduction with Different Exit Sites Traversing the Ventricular Septum.

    PubMed

    Shirai, Yasuhiro; Goya, Masahiko; Isobe, Mitsuaki; Hirao, Kenzo

    2015-07-01

    A 57-year-old male who presented with frequent ventricular premature contraction (VPC) was referred for catheter ablation. Two different QRS morphologies (VPC1 and VPC2) were recorded. Pace mapping at the right ventricular outflow (RVOT) was identical to VPC1 without latency. During the mapping within the right sinus of Valsalva where the RF applications were successful for elimination of VPC, discrete prepotential was recorded and the pace mapping produced both VPC1 and VPC2 morphology with different latency. These electrophysiological findings were thought to prove the existence of preferential pathway traversing the ventricular outflow septum with different exit sites. PMID:25809791

  5. Complete Atrioventricular Block Complicating Mitral Infective Endocarditis Caused by Streptococcus Agalactiae.

    PubMed

    Arai, Masaru; Nagashima, Koichi; Kato, Mahoto; Akutsu, Naotaka; Hayase, Misa; Ogura, Kanako; Iwasawa, Yukino; Aizawa, Yoshihiro; Saito, Yuki; Okumura, Yasuo; Nishimaki, Haruna; Masuda, Shinobu; Hirayama, Astushi

    2016-01-01

    BACKGROUND Infective endocarditis (IE) involving the mitral valve can but rarely lead to complete atrioventricular block (CAVB). CASE REPORT A 74-year-old man with a history of infective endocarditis caused by Streptococcus gordonii (S. gordonii) presented to our emergency room with fever and loss of appetite, which had lasted for 5 days. On admission, results of serologic tests pointed to severe infection. Electrocardiography showed normal sinus rhythm with first-degree atrioventricular block and incomplete right bundle branch block, and transthoracic echocardiography and transesophageal echocardiography revealed severe mitral regurgitation caused by posterior leaflet perforation and 2 vegetations (5 mm and 6 mm) on the tricuspid valve. The patient was initially treated with ceftriaxone and gentamycin because blood and cutaneous ulcer cultures yielded S. agalactiae. On hospital day 2, however, sudden CAVB requiring transvenous pacing occurred, and the patient's heart failure and infection worsened. Although an emergent surgery is strongly recommended, even in patients with uncontrolled heart failure or infection, surgery was not performed because of the Child-Pugh class B liver cirrhosis. Despite intensive therapy, the patient's condition further deteriorated, and he died on hospital day 16. On postmortem examination, a 2×1-cm vegetation was seen on the perforated posterior mitral leaflet, and the infection had extended to the interventricular septum. Histologic examination revealed extensive necrosis of the AV node. CONCLUSIONS This rare case of CAVB resulting from S. agalactiae IE points to the fact that in monitoring patients with IE involving the mitral valve, clinicians should be aware of the potential for perivalvular extension of the infection, which can lead to fatal heart block. PMID:27604147

  6. Modifications of the falciform process in the eye of beloniformes (Teleostei: Atherinomorpha): evolution of a curtain-like septum in the eye.

    PubMed

    Reckel, Frank; Melzer, Roland R

    2004-04-01

    In order to comparatively analyze curtain-like septa in the eyes of visually orientated "close-to-surface-predators" among atherinomorph teleosts, we examined the eyes of 24 atherinomorph species under a binocular microscope with regard to the falciform process and related structures in the vitreous cavity. Additionally, falciform process samples were analyzed by transmission electron microscopy. All the studied representatives of the Cyprinodontiformes and Atheriniformes, and of one of the beloniform suborder, Adrianichthyioidei, possess a "typical" processus falciformis. In the eyes of the representatives of the other beloniform suborder, Belonoidei, however, pigmented structures that originate in the region of the optic disc and protrude into the vitreous cavity were noted. In the Hemiramphidae (halfbeaks) and Exocoetidae (flying fishes) these pigmented structures have a more cone-like shape, whereas in the Belonidae (needlefishes) and Scomberesocidae (sauries) horizontally oriented heavily pigmented curtain-like septa occur that divide the vitreous cavity dorsoventrally. It is suggested that the "typical" processus falciformis represents a plesiomorphic feature within the Atherinomorpha, whereas the pigmented modifications of the falciform process must be seen as a synapomorphic character state of the Belonoidei. The curtain-like septum of the Belonidae and Scomberesocidae might have evolved from the cone-like structures that are found in the Exocoetoidea. The functional significance of the pigmented structures in the eye is as yet not clear, except for the curtain-like septum found in Belonidae. It might play a role in visual orientation near the water surface at Snell's window. PMID:15052593

  7. MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

    PubMed Central

    Le Meur, Nathalie; Holder-Espinasse, Muriel; Jaillard, Sylvie; Goldenberg, Alice; Joriot, Sylvie; Amati-Bonneau, Patrizia; Guichet, Agnès; Barth, Magalie; Charollais, Aude; Journel, Hubert; Auvin, Stéphane; Boucher, Cécile; Kerckaert, Jean-Pierre; David, Véronique; Manouvrier-Hanu, Sylvie; Saugier-Veber, Pascale; Frébourg, Thierry; Dubourg, Christèle; Andrieux, Joris; Bonneau, Dominique

    2010-01-01

    Over the last few years, array-CGH has remarkably improved the ability to detect cryptic unbalanced rearrangements in patients presenting with syndromic mental retardation. Using whole genome oligonucleotide array-CGH, we detected 5q14.3 microdeletions ranging from 216 kb to 8.8 Mb in 5 unrelated patients showing phenotypic similarities, namely severe mental retardation with absent speech, hypotonia and stereotypic movements. Most of the patients presented also with facial dysmorphic features, epilepsy and/or cerebral malformations. The minimal common deleted region of these 5q14 microdeletions encompassed only MEF2C, known to act in brain as a neurogenesis effector which regulates excitatory synapse number. In a patient presenting a similar phenotype, we subsequently identified a MEF2C nonsense mutation. Taken together, these results strongly suggest that haploinsufficiency of MEF2C is responsible for severe mental retardation with stereotypic movements, seizures and/or cerebral malformations. PMID:19592390

  8. [VIRAL INFECTIONS: HUMAN PAPILLOMAVIRUS AND GENITAL HERPES TYPE 1 AND TYPE 2 AS A CAUSE OF CHRONIC RECURRENT CYSTITIS WITH SEVERE DYSURIA IN WOMEN WITH URETHRAL HYPERMOBILITY AND HYPOSPADIAS].

    PubMed

    Derevjanko, T I; Ryzhkov, V V

    2015-01-01

    Female hypospadias presenting as a misplaced urethral opening is a common cause of chronic recurrent cystitis. Cystitis occurs when urogenital infection and anaerobic bacteria enter the urethra and bladder from the vagina. The authors argue that chronic infections of the lower urinary tract in women with hypospadias should be treated surgically by meatal transposition. They present a study confirming the role of the antiviral drug Panavir in prevention of inflammatory complications in the postoperative period in patients with a history of viral infection (human papillomavirus and herpes). PMID:26665761

  9. Analysis of the causes of spawning of large-scale, severe malarial epidemics and their rapid total extinction in western Provence, historically a highly endemic region of France (1745–1850)

    PubMed Central

    2014-01-01

    Background The two main puzzles of this study are the onset and then sudden stopping of severe epidemics in western Provence (a highly malaria-endemic region of Mediterranean France) without any deliberate counter-measures and in the absence of significant population flux. Methods Malaria epidemics during the period from 1745 to 1850 were analysed against temperature and rainfall records and several other potentially relevant factors. Results Statistical analyses indicated that relatively high temperatures in early spring and in September/October, rainfall during the previous winter (principally December) and even from November to September and epidemics during the previous year could have played a decisive role in the emergence of these epidemics. Moreover, the epidemics were most likely not driven by other parameters (e.g., social, cultural, agricultural and geographical). Until 1776, very severe malarial epidemics affected large areas, whereas after this date, they were rarer and generally milder for local people and were due to canal digging activities. In the latter period, decreased rainfall in December, and more extreme and variable temperatures were observed. It is known that rainfall anomalies and temperature fluctuations may be detrimental to vector and parasite development. Conclusion This study showed the particular characteristics of malaria in historical Provence. Contrary to the situation in most other Mediterranean areas, Plasmodium falciparum was most likely not involved (during the years with epidemics, the mean temperature during the months of July and August, among other factors, did not play a role) and the population had no protective mutation. The main parasite species was Plasmodium vivax, which was responsible for very severe diseases, but contrary to in northern Europe, it is likely that transmission occurred only during the period where outdoor sporogony was possible, and P. vivax sporogony was always feasible, even during colder summers

  10. Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.

    PubMed Central

    Wallis, G A; Rash, B; Sykes, B; Bonaventure, J; Maroteaux, P; Zabel, B; Wynne-Davies, R; Grant, M E; Boot-Handford, R P

    1996-01-01

    Type X collagen is a homotrimer of alpha 1 (X) chains encoded by the COL10A1 gene. It is synthesised specifically and transiently by hypertrophic chondrocytes at sites of endochondral ossification. Point mutations and deletions in the region of the COL10A1 gene encoding the alpha 1 (X) carboxyl-terminal (NC1) domain have previously been identified in subjects with metaphyseal chondrodysplasia type Schmid (MCDS). To determine whether mutations in other regions of the gene caused MCDS or comparable phenotypes, we used PCR followed by SSCP to analyse the coding and promoter regions of the COL10A1 gene, as well as the intron/exon boundaries of five further subjects with MCDS, one subject with atypical MCDS, and nine subjects with other forms of metaphyseal chondrodysplasia. Using this approach, three of the subjects with MCDS were found to be heterozygous for the deletions 1864delACTT, 1956delT, and 2029delAC in the region of COL10A1 encoding the NC1 domain. These deletions would lead to alterations in the reading frame, premature stop codons, and the translation of truncated protein products. A fourth subject with MCDS was found to be heterozygous for a single base pair transition, T1894C, that would lead to the substitution of the amino acid residue serine at position 600 by proline within the NC1 domain. We did not, however, detect mutations in the coding and non-coding regions of COL10A1 in one subject with MCDS, the subject with atypical MCDS, and in the nine subjects with other forms of metaphyseal chondrodysplasia. We propose that the nature and distribution of mutations within the NC1 domain of COL10A1 causing MCDS argues against the hypothesis that the phenotype arises simply through haploinsufficiency but that an, as yet, unexplained mutation mechanism underlies this phenotype. Images PMID:8782043

  11. Jaundice causes

    MedlinePlus

    ... liver is unable to properly move into the digestive tract. Conditions that can cause jaundice include: Infections of the liver from a virus ( hepatitis A , hepatitis B , hepatitis C , hepatitis D , ...

  12. Severe sepsis during pregnancy.

    PubMed

    Pacheco, Luis D; Saade, George R; Hankins, Gary D V

    2014-12-01

    Severe sepsis is a major cause of mortality among critically ill patients. Early recognition accompanied by early initiation of broad-spectrum antibiotics with source control and fluid resuscitation improves outcomes. Hemodynamic resuscitation starts with fluid therapy followed by vasopressors if necessary. Cases refractory to first-line vasopressors (norepinephrine) will require second-line vasopressors (epinephrine or vasopressin) and low-dose steroid therapy. Resuscitation goals should include optimization of central venous oxygenation and serum lactate. PMID:25286297

  13. Epidemiology of severe trauma.

    PubMed

    Alberdi, F; García, I; Atutxa, L; Zabarte, M

    2014-12-01

    Major injury is the sixth leading cause of death worldwide. Among those under 35 years of age, it is the leading cause of death and disability. Traffic accidents alone are the main cause, fundamentally in low- and middle-income countries. Patients over 65 years of age are an increasingly affected group. For similar levels of injury, these patients have twice the mortality rate of young individuals, due to the existence of important comorbidities and associated treatments, and are more likely to die of medical complications late during hospital admission. No worldwide, standardized definitions exist for documenting, reporting and comparing data on severely injured trauma patients. The most common trauma scores are the Abbreviated Injury Scale (AIS), the Injury Severity Score (ISS) and the Trauma and Injury severity Score (TRISS). Documenting the burden of injury also requires evaluation of the impact of post-trauma impairments, disabilities and handicaps. Trauma epidemiology helps define health service and research priorities, contributes to identify disadvantaged groups, and also facilitates the elaboration of comparable measures for outcome predictions. PMID:25241267

  14. Causes of Acute Hospitalization in Adolescence: Burden and Spectrum of HIV-Related Morbidity in a Country with an Early-Onset and Severe HIV Epidemic: A Prospective Survey

    PubMed Central

    Ferrand, Rashida A.; Bandason, Tsitsi; Musvaire, Praise; Larke, Natasha; Nathoo, Kusum; Mujuru, Hilda; Ndhlovu, Chiratidzo E.; Munyati, Shungu; Cowan, Frances M.; Gibb, Diana M.; Corbett, Elizabeth L.

    2010-01-01

    Background Survival to older childhood with untreated, vertically acquired HIV infection, which was previously considered extremely unusual, is increasingly well described. However, the overall impact on adolescent health in settings with high HIV seroprevalence has not previously been investigated. Methods and Findings Adolescents (aged 10–18 y) systematically recruited from acute admissions to the two public hospitals in Harare, Zimbabwe, answered a questionnaire and underwent standard investigations including HIV testing, with consent. Pre-set case-definitions defined cause of admission and underlying chronic conditions. Participation was 94%. 139 (46%) of 301 participants were HIV-positive (median age of diagnosis 12 y: interquartile range [IQR] 11–14 y), median CD4 count = 151; IQR 57–328 cells/µl), but only four (1.3%) were herpes simplex virus-2 (HSV-2) positive. Age (median 13 y: IQR 11–16 y) and sex (57% male) did not differ by HIV status, but HIV-infected participants were significantly more likely to be stunted (z-score<−2: 52% versus 23%, p<0.001), have pubertal delay (15% versus 2%, p<0.001), and be maternal orphans or have an HIV-infected mother (73% versus 17%, p<0.001). 69% of HIV-positive and 19% of HIV-negative admissions were for infections, most commonly tuberculosis and pneumonia. 84 (28%) participants had underlying heart, lung, or other chronic diseases. Case fatality rates were significantly higher for HIV-related admissions (22% versus 7%, p<0.001), and significantly associated with advanced HIV, pubertal immaturity, and chronic conditions. Conclusion HIV is the commonest cause of adolescent hospitalisation in Harare, mainly due to adult-spectrum opportunistic infections plus a high burden of chronic complications of paediatric HIV/AIDS. Low HSV-2 prevalence and high maternal orphanhood rates provide further evidence of long-term survival following mother-to-child transmission. Better recognition of this growing phenomenon is

  15. Modified Apolipoprotein (apo) A-I by Artificial Sweetener Causes Severe Premature Cellular Senescence and Atherosclerosis with Impairment of Functional and Structural Properties of apoA-I in Lipid-Free and Lipid-Bound State

    PubMed Central

    Jang, Wookju; Jeoung, Nam Ho; Cho, Kyung-Hyun

    2011-01-01

    Long-term consumption of artificial sweeteners (AS) has been the recent focus of safety concerns. However, the potential risk of the AS in cardiovascular disease and lipoprotein metabolism has not been investigated sufficiently. We compared the influence of AS (aspartame, acesulfame K, and saccharin) and fructose in terms of functional and structural correlations of apolipoprotein (apo) A-I and high-density lipoproteins (HDL), which have atheroprotective effects. Long-term treatment of apoA-I with the sweetener at physiological concentration (3 mM for 168 h) resulted in loss of antioxidant and phospholipid binding activities with modification of secondary structure. The AS treated apoA-I exhibited proteolytic cleavage to produce 26 kDa-fragment. They showed pro-atherogenic properties in acetylated LDL phagocytosis of macrophages. Each sweetener alone or sweetener-treated apoA-I caused accelerated senescence in human dermal fibroblasts. These results suggest that long-term consumption of AS might accelerate atherosclerosis and senescence via impairment of function and structure of apoA-I and HDL. PMID:21533907

  16. Modified apolipoprotein (apo) A-I by artificial sweetener causes severe premature cellular senescence and atherosclerosis with impairment of functional and structural properties of apoA-I in lipid-free and lipid-bound state.

    PubMed

    Jang, Wookju; Jeoung, Nam Ho; Cho, Kyung-Hyun

    2011-05-01

    Long-term consumption of artificial sweeteners (AS) has been the recent focus of safety concerns. However, the potential risk of the AS in cardiovascular disease and lipoprotein metabolism has not been investigated sufficiently. We compared the influence of AS (aspartame, acesulfame K, and saccharin) and fructose in terms of functional and structural correlations of apolipoprotein (apo) A-I and high-density lipoproteins (HDL), which have atheroprotective effects. Long-term treatment of apoA-I with the sweetener at physiological concentration (3 mM for 168 h) resulted in loss of antioxidant and phospholipid binding activities with modification of secondary structure. The AS treated apoA-I exhibited proteolytic cleavage to produce 26 kDa-fragment. They showed pro-atherogenic properties in acetylated LDL phagocytosis of macrophages. Each sweetener alone or sweetener-treated apoA-I caused accelerated senescence in human dermal fibroblasts. These results suggest that long-term consumption of AS might accelerate atherosclerosis and senescence via impairment of function and structure of apoA-I and HDL. PMID:21533907

  17. Multicentre open-label randomised controlled trial to compare colistin alone with colistin plus meropenem for the treatment of severe infections caused by carbapenem-resistant Gram-negative infections (AIDA): a study protocol

    PubMed Central

    Dickstein, Yaakov; Leibovici, Leonard; Yahav, Dafna; Eliakim-Raz, Noa; Daikos, George L; Skiada, Anna; Antoniadou, Anastasia; Carmeli, Yehuda; Nutman, Amir; Levi, Inbar; Adler, Amos; Durante-Mangoni, Emanuele; Andini, Roberto; Cavezza, Giusi; Mouton, Johan W; Wijma, Rixt A; Theuretzbacher, Ursula; Friberg, Lena E; Kristoffersson, Anders N; Zusman, Oren; Koppel, Fidi; Dishon Benattar, Yael; Altunin, Sergey; Paul, Mical

    2016-01-01

    Introduction The emergence of antibiotic-resistant bacteria has driven renewed interest in older antibacterials, including colistin. Previous studies have shown that colistin is less effective and more toxic than modern antibiotics. In vitro synergy studies and clinical observational studies suggest a benefit of combining colistin with a carbapenem. A randomised controlled study is necessary for clarification. Methods and analysis This is a multicentre, investigator-initiated, open-label, randomised controlled superiority 1:1 study comparing colistin monotherapy with colistin–meropenem combination therapy for infections caused by carbapenem-resistant Gram-negative bacteria. The study is being conducted in 6 centres in 3 countries (Italy, Greece and Israel). We include patients with hospital-associated and ventilator-associated pneumonia, bloodstream infections and urosepsis. The primary outcome is treatment success at day 14, defined as survival, haemodynamic stability, stable or improved respiratory status for patients with pneumonia, microbiological cure for patients with bacteraemia and stability or improvement of the Sequential Organ Failure Assessment (SOFA) score. Secondary outcomes include 14-day and 28-day mortality as well as other clinical end points and safety outcomes. A sample size of 360 patients was calculated on the basis of an absolute improvement in clinical success of 15% with combination therapy. Outcomes will be assessed by intention to treat. Serum colistin samples are obtained from all patients to obtain population pharmacokinetic models. Microbiological sampling includes weekly surveillance samples with analysis of resistance mechanisms and synergy. An observational trial is evaluating patients who met eligibility requirements but were not randomised in order to assess generalisability of findings. Ethics and dissemination The study was approved by ethics committees at each centre and informed consent will be obtained for all patients. The

  18. Claviceps cyperi, a new cause of severe ergotism in dairy cattle consuming maize silage and teff hay contaminated with ergotised Cyperus esculentus (nut sedge) on the Highveld of South Africa.

    PubMed

    Naudè, T W; Botha, C J; Vorster, J H; Roux, C; Van der Linde, E J; Van der Walt, S I; Rottinghaus, G E; Van Jaarsveld, L; Lawrence, A N

    2005-03-01

    resulted in mature, heavily ergotised nut sedge being cut with the silage. Claviceps cyperi sclerotia, collected on the affected fields in the following autumn contained 3600-4000 ppm ergocryptine. That the dominant alkaloid produced by this particular fungus was indeed ergocryptine, was confirmed by negative ion chemical ionization MS/MS. In one further outbreak in another Holstein herd, teff hay contaminated with ergotised nut sedge and containing 1200 ppb alkaloids, was incriminated as the cause of the condition. This is the first report of bovine ergotism not associated with the Poaceae infected with Claviceps purpureum or endophytes but with the family Cyperaceae and this particular fungal phytopathogen. PMID:15991703

  19. Sepsis Caused by Extended-Spectrum Beta-Lactamase (ESBL)-Positive K. pneumoniae and E. coli: Comparison of Severity of Sepsis, Delay of Anti-Infective Therapy and ESBL Genotype.

    PubMed

    Sakellariou, Christian; Gürntke, Stephan; Steinmetz, Ivo; Kohler, Christian; Pfeifer, Yvonne; Gastmeier, Petra; Schwab, Frank; Kola, Axel; Deja, Maria; Leistner, Rasmus

    2016-01-01

    Infections with extended-spectrum beta-lactamase-producing Enterobacteriaceae (ESBL-E) are associated with increased mortality. Outcome differences due to various species of ESBL-E or ESBL genotypes are not well investigated. We conducted a cohort study to assess risk factors for mortality in cases of ESBL-E bacteremia (K. pneumoniae or E. coli) and the risk factors for sepsis with organ failure. All consecutive patients of our institution from 2008 to 2011 with bacteremia due to ESBL-E were included. Basic epidemiological data, underlying comorbidities, origin of bacteremia, severity of sepsis and delay of appropriate anti-infective treatment were collected. Isolates were PCR-screened for the presence of ESBL genes and plasmid-mediated AmpC β-lactamases. Cox proportional hazard regression on mortality and multivariable logistic regression on risk factors for sepsis with organ failure was conducted. 219 cases were included in the analysis: 73.1% due to E. coli, 26.9% due to K. pneumoniae. There was no significant difference in hospital mortality (ESBL-E. coli, 23.8% vs. ESBL-K. pneumoniae 27.1%, p = 0.724). However, the risk of sepsis with organ failure was associated in cases of K. pneumoniae bacteremia (OR 4.5, p<0.001) and patients with liver disease (OR 3.4, p = 0.004) or renal disease (OR 6.8, p<0.001). We found significant differences in clinical presentation of ESBL-E bacteremia due to K. pneumoniae compared to E. coli. As K. pneumoniae cases showed a more serious clinical presentation as E. coli cases and were associated with different risk factors, treatment and prevention strategies should be adjusted accordingly. PMID:27442425

  20. Sepsis Caused by Extended-Spectrum Beta-Lactamase (ESBL)-Positive K. pneumoniae and E. coli: Comparison of Severity of Sepsis, Delay of Anti-Infective Therapy and ESBL Genotype

    PubMed Central

    Steinmetz, Ivo; Kohler, Christian; Pfeifer, Yvonne; Gastmeier, Petra; Schwab, Frank; Kola, Axel; Deja, Maria; Leistner, Rasmus

    2016-01-01

    Infections with extended-spectrum beta-lactamase-producing Enterobacteriaceae (ESBL-E) are associated with increased mortality. Outcome differences due to various species of ESBL-E or ESBL genotypes are not well investigated. We conducted a cohort study to assess risk factors for mortality in cases of ESBL-E bacteremia (K. pneumoniae or E. coli) and the risk factors for sepsis with organ failure. All consecutive patients of our institution from 2008 to 2011 with bacteremia due to ESBL-E were included. Basic epidemiological data, underlying comorbidities, origin of bacteremia, severity of sepsis and delay of appropriate anti-infective treatment were collected. Isolates were PCR-screened for the presence of ESBL genes and plasmid-mediated AmpC β-lactamases. Cox proportional hazard regression on mortality and multivariable logistic regression on risk factors for sepsis with organ failure was conducted. 219 cases were included in the analysis: 73.1% due to E. coli, 26.9% due to K. pneumoniae. There was no significant difference in hospital mortality (ESBL-E. coli, 23.8% vs. ESBL-K. pneumoniae 27.1%, p = 0.724). However, the risk of sepsis with organ failure was associated in cases of K. pneumoniae bacteremia (OR 4.5, p<0.001) and patients with liver disease (OR 3.4, p = 0.004) or renal disease (OR 6.8, p<0.001). We found significant differences in clinical presentation of ESBL-E bacteremia due to K. pneumoniae compared to E. coli. As K. pneumoniae cases showed a more serious clinical presentation as E. coli cases and were associated with different risk factors, treatment and prevention strategies should be adjusted accordingly. PMID:27442425

  1. Expression of c-Fos protein in medial septum/diagonal band of Broca and CA3 region, associated with the temporary inactivation of the supramammillary area.

    PubMed

    Aranda, Lourdes

    2016-07-01

    The supramammillary (SuM) area is part of the diencephalic nuclei comprising the mammillary bodies, and is a key structure in the memory and spatial learning processes. It is a critical region in the modulation/generation of hippocampal theta rhythm. In addition, many papers have recently shown a clear involvement of this structure in the processes of spatial learning and memory in animal models, although it is still not known how it modulates spatial navigation and response emotional. The aim of the present research was to study the effect of the temporary inactivation of the SuM area on synaptic plasticity of crucial structures in the formation of spatial memory and emotional response. Sprague-Dawley rats were asigned in three groups: a control group where the animals were not subjected to any treatment, and two groups where the rats received microinjections of tetrodotoxin (TTX) in the SuM area (5ng diluted in 0.5μl of saline) or saline (0.5μl). The microinjections were administered 90min before the perfusion. Later, cellular activity in medial septum/diagonal band of Broca (MS/DBB) and CA3 region of the dorsal hippocampus was assessed, by measuring the immediate early gene c-fos. The results show a clear hiperactivity cellular in medial septum/diagonal band of Broca and a clear hypoactivity cellular in the CA3 region of the hippocampus when there was a functional inactivation of the SuM area. It suggests that the SuM area seems to be part of the connection and information input pathways to CA3 region of the hippocampal formation, key for proper functioning in spatial memory and emotional response. PMID:26802745

  2. Effects of neural androgen receptor disruption on aggressive behavior, arginine vasopressin and galanin systems in the bed nucleus of stria terminalis and lateral septum.

    PubMed

    Marie-Luce, Clarisse; Raskin, Kalina; Bolborea, Matei; Monin, Marion; Picot, Marie; Mhaouty-Kodja, Sakina

    2013-07-01

    In the present study, we investigated the role of the androgen receptor (AR) in the nervous system in the regulation of aggressive behavior and arginine vasopressin and galanin systems by testosterone. For this purpose, we used a conditional mouse line selectively lacking AR gene in the nervous system, backcrossed onto the C57BL/6J strain. Adult males were gonadectomized and supplemented with similar amounts of testosterone. When tested on two consecutive days in the resident intruder paradigm, fewer males of the mutant group exhibited aggressive behavior compared to their control littermates. In addition, a high latency to the first offensive attack was observed for the few animals that exhibited fighting behavior. This alteration was associated with a normal anogenital chemoinvestigation of intruder males. In olfactory discrimination tasks, sexual experience enhanced preference towards female-soiled bedding rather than male-soiled bedding and estrus females rather than intact males, regardless of genotype. This indicated that the behavioral alteration induced by neural AR mutation occurs in brain areas located downstream from the olfactory bulb. Quantification of the sexually dimorphic cell populations expressing preprovasopressin and galanin mRNAs in the bed nucleus of stria terminalis (BNST) and vasopressin-neurophysin 2 and galanin immunoreactivity in the lateral septum showed no significant differences between the two genotypes. The present findings indicate that the neural AR is required in the expression of aggressive behavior but not in the sexual differentiation of AVP and galanin cell number in the BNST and fiber immunoreactivity in the lateral septum. They also suggest that AR in the nervous system could mediate activational effects of testosterone in the regulation of aggressive behavior during adulthood. PMID:23583766

  3. A case of nasal septal abscess caused by medication related osteonecrosis in breast cancer patient.

    PubMed

    Maeda, Mayuka; Matsunobu, Takeshi; Kurioka, Takaomi; Kurita, Akihiro; Shiotani, Akihiro

    2016-02-01

    Antiresorptive drugs have been widely used to treat patients with hypercalcemia caused by malignancy, bone metastasis, multiple myeloma, and osteoporosis. However, it is well known that antiresorptive drugs can cause osteonecrosis of the jaw (ONJ). Herein, we report a rare case of nasal septal abscess caused by medication related osteonecrosis of the jaw (MRONJ) in a breast cancer patient. A 69-year-old woman was referred to our clinic for evaluation of nasal obstruction. Physical examination revealed a cherry-like swelling of the nasal mucosa emanating from the septum that obstructed both nasal cavities and a fistulous tract showing pus discharge after extraction of the bilateral maxillary central incisors (MCI) and the right maxillary lateral incisor (MLI). Computed tomography and panoramic radiography revealed extensive osteonecrosis of the maxilla and swelling of the nasal mucosa. The clinical diagnosis was nasal septal abscess caused by osteonecrosis of the maxilla. Surgical procedure was undertaken for this case. An indwelling drain was placed in the oral cavity, and sequestrectomy was performed with incision and drainage of the anterior portion of left nasal septum. The patient was doing well at the 7-month follow-up. The patient had a medical history of breast cancer with bone, lung, liver metastases, and had received intravenous bisphosphonate, which is one of the antiresorptive medicines, over the past 4 years. We suspect that this history played an important role in MRONJ induced nasal septal abscess. PMID:26775849

  4. Daily rhythms of radiosensitivity of animals and several determining causes

    NASA Technical Reports Server (NTRS)

    Druzhinin, Y. P.; Malyutina, T. S.; Seraya, V. M.; Rodina, G. P.; Vatsek, A.; Rakova, A.

    1974-01-01

    Daily rhythms of radiosensitivity in rats and mice were determined by survival rates after acute total radiation at the same dosage at different times of the day. Radiosensitivity differed in animals of different species and varieties. Inbred mice exhibited one or two increases in radiosensitivity during the dark, active period of the day. These effects were attributed to periodic changes in the state of stem hematopoietic cells.

  5. [Severe sepsis after dog bite caused by Capnocytophaga canimorsus].

    PubMed

    Dobosz, Paweł; Martyna, Danuta; Stefaniuk, Elżbieta; Szczypa, Katarzyna; Hryniewicz, Waleria

    2015-10-01

    We describe a case of a life-threatening septicemia resulting from a previous dog bite wound. The isolated bacterium was Capnocytophaga canimorsus, a slow-growing Gram-negative bacillus commonly found in dog saliva. Known risk factors for invasive C. canimorsus infections are alcohol abuse, cigarette smoking, splenectomy or other forms of immunosuppression. Any clinician seeing patients with a history of a dog bite should consider this pathogen as a causative agent and take detailed history regarding exposure to animals. PMID:26608488

  6. Witnessing traumatic events causes severe behavioral impairments in rats.

    PubMed

    Patki, Gaurav; Solanki, Naimesh; Salim, Samina

    2014-12-01

    Witnessing a traumatic event but not directly experiencing it can be psychologically quite damaging. In North America alone, ∼30% of individuals who witness a traumatic event develop post-traumatic stress disorder (PTSD). While effects of direct trauma are evident, consequences of indirect or secondary trauma are often ignored. Also unclear is the role of social support in the consequences of these experiences. The social defeat paradigm, which involves aggressive encounters by a large Long-Evans male rat (resident) towards a smaller Sprague-Dawley male rat (intruder), is considered a rodent model of PTSD. We have modified this model to create a trauma witness model (TWM) and have used our TWM model to also evaluate social support effects. Basically, when an intruder rat is placed into the home cage of a resident rat, it encounters an agonistic behavior resulting in intruder subordination. The socially defeated intruder is designated the SD rat. A second rat, the cage mate of the SD, is positioned to witness the event and is the trauma witnessing (TW) rat. Experiments were performed in two different experimental conditions. In one, the SD and TW rats were cagemates and acclimatized together. Then, one SD rat was subjected to three sessions of social defeat for 7 d. TW rat witnessed these events. After each social defeat exposure, the TW and SD rats were housed together. In the second, the TW and SD rats were housed separately starting after the first defeat. At the end of each protocol, depression-anxiety-like behavior and memory tests were conducted on the SD and TW rats, blood withdrawn and specific organs collected. Witnessing traumatic events led to depression- and anxiety-like behavior and produced memory deficits in TW rats associated with elevated corticosterone levels. PMID:24887568

  7. Hyperprolactinaemia: a cause of severe postoperative complication after reduction mammaplasty.

    PubMed

    Mestak, Ondrej; Mestak, Jan; Borsky, Jiri

    2014-12-01

    Galactorrhoea is a rare complication of wound healing after breast reduction and its association with necrosis of the areolar skin in women with no recent history of breast feeding has to our knowledge never been described. Galactorrhoea is common and there are many differential diagnoses. We report a case of a 46-year-old woman who had bilateral reductions of the breast and developed hyperprolactinaemia and galactorrhoea six weeks postoperatively. Subsequently she developed dry necrosis of both areolas. All radiographic and laboratory findings were within the reference ranges except for of prolactin. PMID:25399958

  8. A rare infectious cause of severe neonatal skin lesions.

    PubMed

    Demeulemeester, Veronique; Voeten, Michiel; Jacquemyn, Yves; Mahieu, Ludo

    2015-01-01

    We present a case of a preterm infant of 28 weeks' gestation with unique cutaneous lesions characteristic of a congenital herpes simplex virus (HSV) type 1 infection. The infant was prematurely delivered due to intractable labour. The mother had no history or clinical signs of genital infection before or during pregnancy. The infant's skin lesions were described as rough white-yellow plaques; a skin biopsy demonstrated calcified plaques and absent epidermis. HSV type 1 was later determined using PCR on the infant's skin biopsy and cerebral spinal fluid as well as the mother's vaginal swab and the placenta. Calcifications have already been described by Allee et al, alongside a diagnosis of HSV type 2. As is well known, the morbidity and mortality of congenital herpes infections are very high. PMID:26452409

  9. Witnessing traumatic events causes severe behavioral impairments in rats

    PubMed Central

    Patki, Gaurav; Solanki, Naimesh; Salim, Samina

    2015-01-01

    Witnessing a traumatic event but not directly experiencing it can be psychologically quite damaging. In North America alone, ~30% of individuals who witness a traumatic event develop post-traumatic stress disorder (PTSD). While effects of direct trauma are evident, consequences of indirect or secondary trauma are often ignored. Also unclear is the role of social support in the consequences of these experiences. The social defeat paradigm, which involves aggressive encounters by a large Long–Evans male rat (resident) towards a smaller Sprague–Dawley male rat (intruder), is considered a rodent model of PTSD. We have modified this model to create a trauma witness model (TWM) and have used our TWM model to also evaluate social support effects. Basically, when an intruder rat is placed into the home cage of a resident rat, it encounters an agonistic behavior resulting in intruder subordination. The socially defeated intruder is designated the SD rat. A second rat, the cage mate of the SD, is positioned to witness the event and is the trauma witnessing (TW) rat. Experiments were performed in two different experimental conditions. In one, the SD and TW rats were cagemates and acclimatized together. Then, one SD rat was subjected to three sessions of social defeat for 7 d. TW rat witnessed these events. After each social defeat exposure, the TW and SD rats were housed together. In the second, the TW and SD rats were housed separately starting after the first defeat. At the end of each protocol, depression-anxiety-like behavior and memory tests were conducted on the SD and TW rats, blood withdrawn and specific organs collected. Witnessing traumatic events led to depression- and anxiety-like behavior and produced memory deficits in TW rats associated with elevated corticosterone levels. PMID:24887568

  10. [Hypothyroid cardiomyopathy--an underdiagnosed cause of heart failure].

    PubMed

    Gundersen, T; Paulsen, A Q; Gallefoss, F; Aslaksen, B B

    1990-06-10

    20 patients with hypothyroid cardiomyopathy were evaluated by M-mode echocardiography. The mean interventricular septum (IVSd) thickness was 1.94 cm before treatment and was reduced to 1.21 cm after 4-6 months of thyroxin therapy. The mean left ventricular posterior wall (LVPWd) thickness was 1.14 cm before and 1.05 cm after treatment. The IVS/LVPW ratio decreased from 1.7 to 1.15 within 4-6 months. Pericardial effusion was demonstrated in 15 of the patients, but disappeared during thyroxin therapy. The study confirms the importance of examining for hypothyreoidism in the case of patients with symptoms of heart failure of unknown cause, and of patients with echocardiographic evidence of asymmetric septal hypertrophy (ASH) and idiopathic hypertrophic subaortic stenosis (IHSS). PMID:2141958

  11. Secondary causes of dyslipidemia.

    PubMed

    Vodnala, Deepthi; Rubenfire, Melvyn; Brook, Robert D

    2012-09-15

    The causes of the lipid disorders in patients referred to specialty clinics for difficult-to-treat dyslipidemias are likely multifactorial. However, the importance of evaluating for secondary causes is unclear. The investigators performed a chart review of new patients referred to the University of Michigan Lipid Clinic from January 2004 to June 2011 (n = 824) to evaluate for the prevalence of several secondary causes of dyslipidemia. In addition to lipoproteins, new patients were assessed for secondary dyslipidemias by a standardized protocol consisting of laboratory testing, a nutritional evaluation, and medical history. These data were evaluated to determine the prevalence of several secondary causes of dyslipidemia. A total of 363 separate factors were identified in the 824 patients that were thought to be potential secondary causes of dyslipidemia. Because some patients (n = 83 [10%]) had multiple conditions, there were 230 (28% of the cohort) with ≥1 potential secondary dyslipidemias. The most common conditions were excessive alcohol intake (n = 82 [10%]), uncontrolled diabetes mellitus (n = 68 [8%]), and overt albuminuria. Although other causes occurred less frequently (each individually found in <5% of patients), altogether they were present in a substantial portion of patients (n = 102 [12%]). In conclusion, nearly 1/3 of patients referred to a specialty clinic had identifiable secondary conditions plausibly contributing to their dyslipidemia. Numerous disorders were identified, with diabetes mellitus and excessive alcohol being the most common. PMID:22658245

  12. Transcriptional Switch On of ssgA by A-Factor, Which Is Essential for Spore Septum Formation in Streptomyces griseus

    PubMed Central

    Yamazaki, Haruka; Ohnishi, Yasuo; Horinouchi, Sueharu

    2003-01-01

    A-factor (2-isocapryloyl-3R-hydroxymethyl-γ-butyrolactone) triggers morphological development and secondary metabolism in Streptomyces griseus. A transcriptional activator (AdpA) in the A-factor regulatory cascade switches on a number of genes required for both processes. AdBS11 was identified in a library of the DNA fragments that are bound by AdpA and mapped upstream of ssgA, which is essential for septum formation in aerial hyphae. Gel mobility shift assays and DNase I footprinting revealed three AdpA-binding sites at nucleotide positions about −235 (site 1), −110 (site 2), and +60 (site 3) with respect to the transcriptional start point, p1, of ssgA. ssgA had two transcriptional start points, one starting at 124 nucleotides (p1) and the other starting at 79 nucleotides (p2) upstream of the start codon of ssgA. Of the three binding sites, only sites 1 and 2 were required for transcriptional activation of p1 and p2 by AdpA. The transcriptional switch on of ssgA required the extracytoplasmic function sigma factor, σAdsA, in addition to AdpA. However, it was unlikely that σAdsA recognized the two ssgA promoters, since their −35 and −10 sequences were not similar to the promoter sequence motifs recognized by σBldN, a σAdsA homologue of Streptomyces coelicolor A3(2). An ssgA disruptant formed aerial hyphae, but did not form spores, irrespective of the carbon source of the medium, which indicated that ssgA is a member of the whi genes. Transcriptional analysis of ssfR, located just upstream of ssgA and encoding an IclR-type transcriptional regulator, suggested that no read-through from ssfR into ssgA occurred, and ssgA was transcribed in the absence of ssfR. ssgA was thus found to be controlled by AdpA and not by SsfR to a detectable extent. SsfR appeared to regulate spore septum formation independently of SsgA or through interaction with SsgA in some unknown way, because an ssfR disruptant also showed a whi phenotype. PMID:12562798

  13. Acute Urinary Retention in a 47-month-old Girl Caused by the Giant Fecaloma

    PubMed Central

    Park, Ji Sook; Park, Tae-Jin; Hwa, Jung Seok; Park, Chan-Hoo; Youn, Hee-Shang

    2013-01-01

    We present a case of a 47-month-old female suffering from acute urinary bladder neck obstruction and bilateral hydronephrosis secondary to a fecaloma. Fecaloma is defined as an accumulation of inspissated feces in the colon or rectum giving the appearance of an abdominal mass. A fecaloma can be developed by diverse causes and the causes of the fecaloma in this case were septum reformation after the Duhamel procedure and long-term constipation. Chronic constipation is very common at outpatient clinic. However, acute urinary retention and voiding difficulty caused by fecaloma in the giant Duhamel pouch has never been reported in Korea. We would like to present our case with acute urinary retention due to a fecaloma and suggest that fecaloma might be considered as one of the causes for acute urinary retention, especially in cases with previous Duhamel operation for repair of Hischsprung disease. PMID:24224155

  14. Common Cause Failure Modes

    NASA Technical Reports Server (NTRS)

    Wetherholt, Jon; Heimann, Timothy J.; Anderson, Brenda

    2011-01-01

    High technology industries with high failure costs commonly use redundancy as a means to reduce risk. Redundant systems, whether similar or dissimilar, are susceptible to Common Cause Failures (CCF). CCF is not always considered in the design effort and, therefore, can be a major threat to success. There are several aspects to CCF which must be understood to perform an analysis which will find hidden issues that may negate redundancy. This paper will provide definition, types, a list of possible causes and some examples of CCF. Requirements and designs from NASA projects will be used in the paper as examples.

  15. Artemether for severe malaria

    PubMed Central

    Esu, Ekpereonne; Effa, Emmanuel E; Opie, Oko N; Uwaoma, Amirahobu; Meremikwu, Martin M

    2014-01-01

    Background In 2011 the World Health Organization (WHO) recommended parenteral artesunate in preference to quinine as first-line treatment for people with severe malaria. Prior to this recommendation, many countries, particularly in Africa, had begun to use artemether, an alternative artemisinin derivative. This review evaluates intramuscular artemether compared with both quinine and artesunate. Objectives To assess the efficacy and safety of intramuscular artemether versus any other parenteral medication in treating severe malaria in adults and children. Search methods We searched the Cochrane Infectious Diseases Group Specialized Register, CENTRAL (The Cochrane Library), MEDLINE, EMBASE and LILACS, ISI Web of Science, conference proceedings and reference lists of articles. We also searched the WHO clinical trial registry platform, ClinicalTrials.gov and the metaRegister of Controlled Trials (mRCT) for ongoing trials up to 9 April 2014. Selection criteria Randomized controlled trials (RCTs) comparing intramuscular artemether with intravenous or intramuscular antimalarial for treating severe malaria. Data collection and analysis The primary outcome was all-cause death.Two authors independently assessed trial eligibility, risk of bias and extracted data. We summarized dichotomous outcomes using risk ratios (RR) and continuous outcomes using mean differences (MD), and presented both measures with 95% confidence intervals (CI). Where appropriate, we combined data in meta-analyses and assessed the quality of the evidence using the GRADE approach. Main results We included 18 RCTs, enrolling 2662 adults and children with severe malaria, carried out in Africa (11) and in Asia (7). Artemether versus quinine For children in Africa, there is probably little or no difference in the risk of death between intramuscular artemether and quinine (RR 0.96, 95% CI 0.76 to 1.20; 12 trials, 1447 participants, moderate quality evidence). Coma recovery may be about five hours shorter with

  16. Effects of nasal septum perforation repair surgery on three-dimensional airflow: an evaluation using computational fluid dynamics.

    PubMed

    Nomura, Tsutomu; Ushio, Munetaka; Kondo, Kenji; Yamasoba, Tatsuya

    2015-11-01

    The purpose of this research is to determine the cause of nasal perforation symptoms and to predict post-operative function after nasal perforation repair surgery. A realistic three-dimensional (3D) model of the nose with a septal perforation was reconstructed using a computed tomography (CT) scan from a patient with nasal septal defect. The numerical simulation was carried out using ANSYS CFX V13.0. Pre- and post-operative models were compared by their velocity, pressure gradient (PG), wall shear (WS), shear strain rate (SSR) and turbulence kinetic energy in three plains. In the post-operative state, the crossflows had disappeared, and stream lines bound to the olfactory cleft area had appeared. After surgery, almost all of high-shear stress areas were disappeared comparing pre-operative model. In conclusion, the effects of surgery to correct nasal septal perforation were evaluated using a three-dimensional airflow evaluation. Following the surgery, crossflows disappeared, and WS, PG and SSR rate were decreased. A high WS.PG and SSR were suspected as causes of nasal perforation symptoms. PMID:25503100

  17. Cholinergic neuronal lesions in the medial septum and vertical limb of the diagonal bands of Broca induce contextual fear memory generalization and impair acquisition of fear extinction.

    PubMed

    Knox, Dayan; Keller, Samantha M

    2016-06-01

    Previous research has shown that the ventral medial prefrontal cortex (vmPFC) and hippocampus (Hipp) are critical for extinction memory. Basal forebrain (BF) cholinergic input to the vmPFC and Hipp is critical for neural function in these substrates, which suggests BF cholinergic neurons may be critical for extinction memory. In order to test this hypothesis, we applied cholinergic lesions to different regions of the BF and observed the effects these lesions had on extinction memory. Complete BF cholinergic lesions induced contextual fear memory generalization, and this generalized fear was resistant to extinction. Animals with complete BF cholinergic lesions could not acquire cued fear extinction. Restricted cholinergic lesions in the medial septum and vertical diagonal bands of Broca (MS/vDBB) mimicked the effects that BF cholinergic lesions had on contextual fear memory generalization and acquisition of fear extinction. Cholinergic lesions in the horizontal diagonal band of Broca and nucleus basalis (hDBB/NBM) induced a small deficit in extinction of generalized contextual fear memory with no accompanying deficits in cued fear extinction. The results of this study reveal that MS/vDBB cholinergic neurons are critical for inhibition and extinction of generalized contextual fear memory, and via this process, may be critical for acquisition of cued fear extinction. Further studies delineating neural circuits and mechanisms through which MS/vDBB cholinergic neurons facilitate these emotional memory processes are needed. © 2015 Wiley Periodicals, Inc. PMID:26606423

  18. Swallowing-Induced Atrial Tachyarrhythmias Successfully Ablated at the Left Posterior Interatrial Septum in Patient with Wolff-Parkinson-White Syndrome

    PubMed Central

    Ban, Ji-Eun; Lee, Hyun-Soo; Choi, Jong-Il; Kim, Young-Hoon

    2015-01-01

    We reported a case of a 55-year-old patient who presented with palpitation after swallowing. Initial surface electrocardiogram revealed ventricular preexcitation utilizing a left lateral bypass tract. The orthodromic atrioventricular reentrant tachycardia (AVRT) was induced during electrophysiologic studies. After successful ablation of the AVRT utilizing a left lateral free wall bypass tract, 2 different atrial tachycardias (ATs) were induced under isoproterenol infusion. When the patient swallowed saliva or drank water, 2 consecutive beats of atrial premature complexes (APCs) preceded another non-sustained AT repeatedly, which was coincident with the patient's symptom. The preceding APC couplet had the same activation sequence with one induced AT, and the subsequent non-sustained AT had the same activation sequence with the other induced AT, respectively. We first targeted the preceding 2 consecutive APCs at the left posterior interatrial septum. The following non-sustained AT was also eliminated following ablation of the APCs. After ablation, the patient remained free from the swallowing-induced atrial tachyarrhythmias during the one year follow-up. PMID:26023316

  19. Increased D-alanylation of lipoteichoic acid and a thickened septum are main determinants in the nisin resistance mechanism of Lactococcus lactis.

    PubMed

    Kramer, Naomi E; Hasper, Hester E; van den Bogaard, Patrick T C; Morath, Siegfried; de Kruijff, Ben; Hartung, Thomas; Smid, Eddy J; Breukink, Eefjan; Kok, Jan; Kuipers, Oscar P

    2008-06-01

    Nisin is a post-translationally modified antimicrobial peptide produced by Lactococcus lactis which binds to lipid II in the membrane to form pores and inhibit cell-wall synthesis. A nisin-resistant (Nis(R)) strain of L. lactis, which is able to grow at a 75-fold higher nisin concentration than its parent strain, was investigated with respect to changes in the cell wall. Direct binding studies demonstrated that less nisin was able to bind to lipid II in the membranes of L. lactis Nis(R) than in the parent strain. In contrast to vancomycin binding, which showed ring-like binding, nisin was observed to bind in patches close to cell-division sites in both the wild-type and the Nis(R) strains. Comparison of modifications in lipoteichoic acid of the L. lactis strains revealed an increase in d-alanyl esters and galactose as substituents in L. lactis Nis(R), resulting in a less negatively charged cell wall. Moreover, the cell wall displays significantly increased thickness at the septum. These results indicate that shielding the membrane and thus the lipid II molecule, thereby decreasing abduction of lipid II and subsequent pore-formation, is a major defence mechanism of L. lactis against nisin. PMID:18524930

  20. On Lateral Septum-Like Characteristics of Outputs From the Accumbal Hedonic “Hotspot” of Peciña and Berridge With Commentary on the Transitional Nature of Basal Forebrain “Boundaries”

    PubMed Central

    Zahm, Daniel S.; Parsley, Kenneth P.; Schwartz, Zachary M.; Cheng, Anita Y.

    2014-01-01

    Peciña and Berridge (2005; J Neurosci 25:11777–11786) observed that an injection of the μ-opioid receptor agonist DAMGO (D-ala2-N-Me-Phe4-Glycol5-enkephalin) into the rostrodorsal part of the accumbens shell (rdAcbSh) enhances expression of hedonic “liking” responses to the taste of an appetitive sucrose solution. Insofar as the connections of this hedonic “hotspot” were not singled out for special attention in the earlier neuroanatomical literature, we undertook to examine them. We observed that the patterns of inputs and outputs of the rdAcbSh are not qualitatively different from those of the rest of the Acb, except that outputs from the rdAcbSh to the lateral preoptic area and anterior and lateral hypothalamic areas are anomalously robust and overlap extensively with those of the lateral septum. We also detected reciprocal interconnections between the rdAcbSh and lateral septum. Whether and how these connections subserve hedonic impact remains to be learned, but these observations lead us to hypothesize that the rdAcbSh represents a basal forebrain transition area, in the sense that it is invaded by neurons of the lateral septum, or possibly transitional neuronal forms sharing properties of both structures. We note that the proposed transition zone between lateral septum and rdAcbSh would be but one of many in the basal forebrain and conclude by reiterating the longstanding argument that the transitional nature of such boundary areas has functional importance, of which the precise nature will remain elusive until the neurophysiological and neuropharmacological implications of such zones of transition are more generally acknowledged and better addressed. PMID:22628122